ENSP00000000233 103188 OMIM gene: ADP-RIBOSYLATION FACTOR 5; ARF5 Gene map locus 7q31.3 (link from Ensembl BioMart) ENSP00000000412 154540 OMIM gene: MANNOSE 6-PHOSPHATE RECEPTOR, CATION-DEPENDENT; M6PR Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000000442 601998 OMIM gene: ESTROGEN-RELATED RECEPTOR, ALPHA; ESRRA Gene map locus 11q12 (link from Ensembl BioMart) ENSP00000001008 600611 OMIM gene: FK506-BINDING PROTEIN 4; FKBP4 (link from Ensembl BioMart) ENSP00000001146 605207 OMIM gene: CYTOCHROME P450, SUBFAMILY XXVIB, POLYPEPTIDE 1; CYP26B1 (link from Ensembl BioMart) ENSP00000001380 164940 OMIM gene: GARDNER-RASHEED FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; FGR Gene map locus 1p36.2-p36.1 (link from Ensembl BioMart) ENSP00000001567 134370 OMIM gene: COMPLEMENT FACTOR H; CFH FACTOR H-LIKE 1, INCLUDED; FHL1, INCLUDED Gene map locus 1q32 (link from Ensembl BioMart) ENSP00000001567 235400 OMIM phenotype: HEMOLYTIC-UREMIC SYNDROME; HUS Gene map locus 1q32 (link from Ensembl BioMart) ENSP00000001567 603075 OMIM phenotype: MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Gene map locus 1q32, 1q24-q25, 10q25.3-q26.2 (link from Ensembl BioMart) ENSP00000001567 609496 OMIM phenotype: NEPHROPATHY, CHRONIC HYPOCOMPLEMENTEMIC (link from Ensembl BioMart) ENSP00000001585 603503 OMIM gene: DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1 Gene map locus 20q13.13 (link from Ensembl BioMart) ENSP00000001585 608799 OMIM phenotype: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie Gene map locus 20q13.13 (link from Ensembl BioMart) ENSP00000002165 136820 OMIM gene: FUCOSIDASE, ALPHA-L, 2; FUCA2 FUCOSIDASE, PLASMA, LOW, INCLUDED Gene map locus 6q25-qter (link from Ensembl BioMart) ENSP00000002594 313470 OMIM gene: CD99 ANTIGEN; CD99 MSK5X, INCLUDED Gene map locus Xpter-p22.32 (link from Ensembl BioMart) ENSP00000002594 450000 OMIM gene: MIC2 SURFACE ANTIGEN, Y-CHROMOSOMAL; MIC2Y Gene map locus Ypter-p11.2 (link from Ensembl BioMart) ENSP00000002596 603244 OMIM gene: HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 1; HS3ST1 (link from Ensembl BioMart) ENSP00000002829 601124 OMIM gene: SEMAPHORIN 3F; SEMA3F Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000003084 219700 OMIM phenotype: CYSTIC FIBROSIS; CF Gene map locus 19q13.1, 7q31.2 (link from Ensembl BioMart) ENSP00000003084 277180 OMIM phenotype: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD Gene map locus 7q31.2 (link from Ensembl BioMart) ENSP00000003084 602421 OMIM gene: CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR Gene map locus 7q31.2 (link from Ensembl BioMart) ENSP00000003100 601637 OMIM gene: CYTOCHROME P450, FAMILY 51, SUBFAMILY A, POLYPEPTIDE 1; CYP51A1 Gene map locus 7q21.2-q21.3 (link from Ensembl BioMart) ENSP00000003603 300191 OMIM gene: TETRASPANIN 6; TSPAN6 Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000003616 300459 OMIM gene: TENOMODULIN (link from Ensembl BioMart) ENSP00000003834 607732 OMIM gene: STERILE ALPHA AND HEAT/ARMADILLO MOTIFS-CONTAINING PROTEIN Gene map locus 17q11 (link from Ensembl BioMart) ENSP00000004531 601872 OMIM gene: SOLUTE CARRIER FAMILY 7, MEMBER 2; SLC7A2 Gene map locus 8p22 (link from Ensembl BioMart) ENSP00000004672 608192 OMIM gene: PROTEIN ASSOCIATED WITH THE C-TERMINAL DOMAIN OF EZRIN Gene map locus 1q23.3 (link from Ensembl BioMart) ENSP00000004921 603757 OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 18; CCL18 Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000005082 602187 OMIM gene: ZINC FINGER PROTEIN 195; ZNF195 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000005113 300102 OMIM gene: PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 4; PNPLA4 Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000005178 602527 OMIM gene: PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 4; PDK4 Gene map locus 7q21.3-q22.1 (link from Ensembl BioMart) ENSP00000005180 604697 OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 26; CCL26 Gene map locus 7q11.2 (link from Ensembl BioMart) ENSP00000005198 600136 OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 9; MAP3K9 Gene map locus 14q24.3-q31 (link from Ensembl BioMart) ENSP00000005226 605242 OMIM gene: USH1C GENE; USH1C Gene map locus 11p15.1 (link from Ensembl BioMart) ENSP00000005257 179550 OMIM gene: V-RAL SIMIAN LEUKEMIA VIRAL ONCOGENE HOMOLOG A; RALA Gene map locus 7p22-p15 (link from Ensembl BioMart) ENSP00000005279 607291 OMIM gene: ADAPTOR-RELATED PROTEIN COMPLEX 1 GAMMA SUBUNIT-BINDING PROTEIN 1; AP1GBP1 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000005284 606403 OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-3 SUBUNIT; CACNG3 Gene map locus 16p13.1-p12 (link from Ensembl BioMart) ENSP00000005340 602151 OMIM gene: DISHEVELLED 2; DVL2 (link from Ensembl BioMart) ENSP00000005545 300215 OMIM phenotype: LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG HYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED Gene map locus Xp22.13 (link from Ensembl BioMart) ENSP00000005545 300382 OMIM gene: ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX Gene map locus Xp22.13 (link from Ensembl BioMart) ENSP00000005545 300419 OMIM phenotype: MENTAL RETARDATION, X-LINKED 54; MRX54 Gene map locus Xp22.13 (link from Ensembl BioMart) ENSP00000005545 300432 OMIM phenotype: EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY Gene map locus Xp22.13 (link from Ensembl BioMart) ENSP00000005545 308350 OMIM phenotype: INFANTILE SPASM SYNDROME, X-LINKED Gene map locus Xp22.13 (link from Ensembl BioMart) ENSP00000005545 309510 OMIM phenotype: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS Gene map locus Xp22.13 (link from Ensembl BioMart) ENSP00000005558 603502 OMIM gene: INTERFERON-RELATED DEVELOPMENTAL REGULATOR 1; IFRD1 Gene map locus 7q22-q31 (link from Ensembl BioMart) ENSP00000005587 605215 OMIM gene: SKAP55-RELATED PROTEIN Gene map locus 7p21-p15 (link from Ensembl BioMart) ENSP00000005593 300150 OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER A5; SLC25A5 Gene map locus Xq24-q26 (link from Ensembl BioMart) ENSP00000005995 608159 OMIM gene: PROTEASE, SERINE, 21; PRSS21 (link from Ensembl BioMart) ENSP00000006015 142958 OMIM gene: HOMEOBOX A11; HOXA11 Gene map locus 7p15-p14.2 (link from Ensembl BioMart) ENSP00000006053 601880 OMIM gene: CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1 Gene map locus 16q (link from Ensembl BioMart) ENSP00000006251 609406 OMIM gene: PROLINE-RICH PROTEIN 5 Gene map locus 22q13.31 (link from Ensembl BioMart) ENSP00000006342 120260 OMIM gene: COLLAGEN, TYPE IX, ALPHA-2; COL9A2 Gene map locus 1p33-p32.2 (link from Ensembl BioMart) ENSP00000006342 600204 OMIM phenotype: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2 Gene map locus 1p33-p32.2 (link from Ensembl BioMart) ENSP00000006342 603932 OMIM phenotype: INTERVERTEBRAL DISC DISEASE; IDD LUMBAR DISC DISEASE, INCLUDED; LDD, INCLUDED Gene map locus 20q13.3, 15q22, 1p33-p32.2 (link from Ensembl BioMart) ENSP00000006750 147245 OMIM gene: CD79B ANTIGEN; CD79B Gene map locus 17q23 (link from Ensembl BioMart) ENSP00000006839 168300 OMIM phenotype: PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC PARALYSIS PERIODICA PARAMYOTONIA, INCLUDED Gene map locus 17q23.1-q25.3 (link from Ensembl BioMart) ENSP00000006839 170400 OMIM phenotype: HYPOKALEMIC PERIODIC PARALYSIS; HOKPP Gene map locus 17q23.1-q25.3, 1q32, 11q13-q14 (link from Ensembl BioMart) ENSP00000006839 170500 OMIM phenotype: HYPERKALEMIC PERIODIC PARALYSIS; HYPP NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED Gene map locus 17q23.1-q25.3 (link from Ensembl BioMart) ENSP00000006839 603967 OMIM gene: SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A MYASTHENIC SYNDROME DUE TO MUTATION IN SCN4A, INCLUDED Gene map locus 17q23.1-q25.3 (link from Ensembl BioMart) ENSP00000006839 608390 OMIM phenotype: MYOTONIA, POTASSIUM-AGGRAVATED Gene map locus 17q23.1-q25.3 (link from Ensembl BioMart) ENSP00000006941 171900 OMIM gene: PHOSPHOGLUCOMUTASE 1; PGM1 Gene map locus 1p31 (link from Ensembl BioMart) ENSP00000006951 247200 OMIM phenotype: MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000006951 601545 OMIM gene: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT; PAFAH1B1 Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000006951 607432 OMIM phenotype: LISSENCEPHALY I; LIS1 SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED; SCLH, INCLUDED Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000007403 272430 OMIM phenotype: COLD-INDUCED SWEATING SYNDROME; CISS Gene map locus 19p12 (link from Ensembl BioMart) ENSP00000007403 604237 OMIM gene: CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1 Gene map locus 19p12 (link from Ensembl BioMart) ENSP00000007414 606735 OMIM gene: OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 7; OSBPL7 Gene map locus 17q21.2 (link from Ensembl BioMart) ENSP00000007516 603836 OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA/BETA SUBCOMPLEX, 1; NDUFAB1 Gene map locus 16p12.3-p12.1 (link from Ensembl BioMart) ENSP00000007633 600466 OMIM gene: ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B1; ALDH3B1 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000007660 600030 OMIM gene: DISTAL-LESS HOMEOBOX 6; DLX6 Gene map locus 7q22 (link from Ensembl BioMart) ENSP00000007708 602525 OMIM gene: PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 2; PDK2 (link from Ensembl BioMart) ENSP00000007722 605025 OMIM gene: INTEGRIN, ALPHA-3; ITGA3 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000007735 602761 OMIM gene: KERATIN, HAIR, ACIDIC, 3A; KRTHA3A Gene map locus 17q12-q21 (link from Ensembl BioMart) ENSP00000007752 309060 OMIM gene: LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2 Gene map locus Xq24 (link from Ensembl BioMart) ENSP00000008180 606001 OMIM gene: INTERLEUKIN 32; IL32 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000008311 603231 OMIM gene: ZINC FINGER PROTEIN 200; ZNF200 Gene map locus 16p13 (link from Ensembl BioMart) ENSP00000008527 601933 OMIM gene: CRYPTOCHROME 1; CRY1 Gene map locus 12q23-q24.1 (link from Ensembl BioMart) ENSP00000008553 136132 OMIM gene: FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3 Gene map locus 1q23-q25 (link from Ensembl BioMart) ENSP00000008553 602079 OMIM phenotype: TRIMETHYLAMINURIA Gene map locus 1q23-q25 (link from Ensembl BioMart) ENSP00000008938 604963 OMIM gene: PEPTIDOGLYCAN RECOGNITION PROTEIN 1; PGLYRP1 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000009180 143030 OMIM gene: CD9 ANTIGEN; CD9 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000009530 142790 OMIM gene: CD74 ANTIGEN; CD74 Gene map locus 5q32 (link from Ensembl BioMart) ENSP00000009589 603682 OMIM gene: RIBOSOMAL PROTEIN S20; RPS20 Gene map locus 8q (link from Ensembl BioMart) ENSP00000010132 609181 OMIM gene: DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 4; DYRK4 Gene map locus 12pter-p13.31 (link from Ensembl BioMart) ENSP00000010338 608255 OMIM gene: TRAF3-INTERACTING JNK-ACTIVATING MODULATOR (link from Ensembl BioMart) ENSP00000010404 138330 OMIM gene: GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 1; MGST1 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000011292 114850 OMIM gene: CARBOXYPEPTIDASE A1; CPA1 Gene map locus 7q32-qter (link from Ensembl BioMart) ENSP00000011619 603854 OMIM gene: RAN-BINDING PROTEIN 9; RANBP9 Gene map locus 6p23 (link from Ensembl BioMart) ENSP00000011653 186940 OMIM gene: CD4 ANTIGEN; CD4 CD4+ LYMPHOCYTE DEFICIENCY, INCLUDED Gene map locus 12pter-p12 (link from Ensembl BioMart) ENSP00000011691 606473 OMIM gene: SS18-LIKE GENE 2; SS18L2 (link from Ensembl BioMart) ENSP00000011989 601270 OMIM gene: CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 3; CYP4F3 Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000012134 143054 OMIM gene: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 2; HIVEP2 Gene map locus 6q23-q24 (link from Ensembl BioMart) ENSP00000012407 300111 OMIM gene: LIM DOMAIN ONLY 6; LMO6 Gene map locus Xp11.23-p11.22 (link from Ensembl BioMart) ENSP00000012443 600658 OMIM gene: PROTEIN PHOSPHATASE 5, CATALYTIC SUBUNIT; PPP5C Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000013034 156490 OMIM gene: NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1 NM23H1B, INCLUDED Gene map locus 17q21.3 (link from Ensembl BioMart) ENSP00000013125 604923 OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 5; MAP4K5 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000013222 604854 OMIM gene: INDOLETHYLAMINE N-METHYLTRANSFERASE; INMT Gene map locus 7p15.3-p15.2 (link from Ensembl BioMart) ENSP00000013772 113705 OMIM gene: BREAST CANCER 1 GENE; BRCA1 BREAST CANCER, TYPE 1, INCLUDED Gene map locus 17q21 (link from Ensembl BioMart) ENSP00000013807 126380 OMIM gene: EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1 Gene map locus 19q13.2-q13.3 (link from Ensembl BioMart) ENSP00000013894 275630 OMIM phenotype: TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION Gene map locus 3p21 (link from Ensembl BioMart) ENSP00000013894 604780 OMIM gene: COMPARATIVE GENE IDENTIFICATION 58 Gene map locus 3p21 (link from Ensembl BioMart) ENSP00000013916 136131 OMIM gene: FLAVIN-CONTAINING MONOOXYGENASE 4; FMO4 Gene map locus 1q (link from Ensembl BioMart) ENSP00000014112 600693 OMIM gene: POLYPYRIMIDINE TRACT-BINDING PROTEIN 1; PTBP1 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000014914 604138 OMIM gene: RETINOIC ACID-INDUCED 3; RAI3 Gene map locus 12p13-p12.3 (link from Ensembl BioMart) ENSP00000014930 605826 OMIM gene: HEME-BINDING PROTEIN 1; HEBP1 FPRL2 LIGAND, INCLUDED; F2L, INCLUDED Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000014935 300081 OMIM gene: DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000015877 601218 OMIM gene: ADENOSINE DEAMINASE, RNA-SPECIFIC, B1; ADARB1 Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000016171 220110 OMIM phenotype: COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF (link from Ensembl BioMart) ENSP00000016171 603646 OMIM gene: CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15; COX15 Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000016913 606550 OMIM gene: MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 12 Gene map locus 11q12-q13 (link from Ensembl BioMart) ENSP00000016946 602752 OMIM gene: RAN-BINDING PROTEIN 2-LIKE 1; RANBP2L1 Gene map locus 2q11-q12 (link from Ensembl BioMart) ENSP00000017003 608125 OMIM gene: XYLOSYLTRANSFERASE 2; XYLT2 (link from Ensembl BioMart) ENSP00000019019 300499 OMIM gene: FTSJ HOMOLOG 1; FTSJ1 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000019103 182098 OMIM gene: SECRETIN RECEPTOR; SCTR Gene map locus 2q14.1 (link from Ensembl BioMart) ENSP00000019317 605801 OMIM gene: RALA-BINDING PROTEIN 1; RALBP1 Gene map locus 18p11 (link from Ensembl BioMart) ENSP00000020673 602327 OMIM gene: PLECKSTRIN-SEC7 DOMAINS PROTEIN; PSD Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000020926 607716 OMIM gene: SYNAPTOTAGMIN 13; SYT13 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000020945 602150 OMIM gene: SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2 Gene map locus 8q11 (link from Ensembl BioMart) ENSP00000020945 608890 OMIM phenotype: WAARDENBURG SYNDROME, TYPE IID Gene map locus 8q11 (link from Ensembl BioMart) ENSP00000021665 608458 OMIM gene: NEUROCHONDRIN Gene map locus 1p34.3 (link from Ensembl BioMart) ENSP00000021763 606823 OMIM gene: TUMOR ENDOTHELIAL MARKER 5 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000023064 604144 OMIM gene: SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000023165 604274 OMIM gene: KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; KLRA1 Gene map locus 12p13-p12 (link from Ensembl BioMart) ENSP00000023897 137160 OMIM gene: GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1 Gene map locus 5q34-q35 (link from Ensembl BioMart) ENSP00000023897 606904 OMIM phenotype: EPILEPSY, JUVENILE MYOCLONIC; JME Gene map locus 5q34-q35, 3q26-qter, 2q22-q23 (link from Ensembl BioMart) ENSP00000025008 606837 OMIM gene: RB1-INDUCIBLE COILED-COIL 1; RB1CC1 Gene map locus 8q11 (link from Ensembl BioMart) ENSP00000025176 606820 OMIM gene: GLUTAREDOXIN 2; GLRX2 Gene map locus 1q31.2-q31.3 (link from Ensembl BioMart) ENSP00000025301 604696 OMIM gene: A-KINASE ANCHOR PROTEIN 11; AKAP11 (link from Ensembl BioMart) ENSP00000025399 605986 OMIM gene: UNR-INTERACTING PROTEIN Gene map locus 12q11-q12 (link from Ensembl BioMart) ENSP00000026218 605754 OMIM gene: PHOSPHATIDYLINOSITOL GLYCAN, CLASS Q; PIGQ (link from Ensembl BioMart) ENSP00000027335 603017 OMIM gene: CADHERIN 17; CDH17 Gene map locus 8q22.1 (link from Ensembl BioMart) ENSP00000027474 174050 OMIM phenotype: POLYCYSTIC LIVER DISEASE; PCLD Gene map locus 19p13.2-p13.1, 6q21 (link from Ensembl BioMart) ENSP00000027474 608648 OMIM gene: SEC63, S. CEREVISIAE, HOMOLOG OF; SEC63 Gene map locus 6q21 (link from Ensembl BioMart) ENSP00000028585 602241 OMIM gene: MITOCHONDRIAL INTERMEDIATE PEPTIDASE; MIPEP Gene map locus 13q12 (link from Ensembl BioMart) ENSP00000029410 130070 OMIM phenotype: EHLERS-DANLOS SYNDROME, PROGEROID FORM Gene map locus 5q35.2-q35.3 (link from Ensembl BioMart) ENSP00000029410 604327 OMIM gene: XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE, POLYPEPTIDE 7; B4GALT7 Gene map locus 5q35.2-q35.3 (link from Ensembl BioMart) ENSP00000029439 107470 OMIM gene: INTERFERON, GAMMA, RECEPTOR 1; IFNGR1 Gene map locus 6q23-q24 (link from Ensembl BioMart) ENSP00000029439 209950 OMIM phenotype: ATYPICAL MYCOBACTERIOSIS, FAMILIAL BCG INFECTION, GENERALIZED FAMILIAL, INCLUDED Gene map locus 21q22.1-q22.2, 19p13.1, 6q23-q24, 5q31.1-q33.1, 2q32.2-q32.3 (link from Ensembl BioMart) ENSP00000029627 604514 OMIM gene: SH2 DOMAIN PROTEIN 2A; SH2D2A Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000029717 191191 OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B Gene map locus 1p36.3-p36.2 (link from Ensembl BioMart) ENSP00000031512 607033 OMIM gene: TRANSCRIPTION FACTOR B1, MITOCHONDRIAL; TFB1M Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000031803 300193 OMIM gene: HIGH MOBILITY GROUP BOX 3; HMGB3 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000032294 600516 OMIM gene: BCL2 ANTAGONIST KILLER 1; BAK1 Gene map locus 6p21.3-p21.2 (link from Ensembl BioMart) ENSP00000033079 609371 OMIM gene: CHROMOSOME 5 OPEN READING FRAME 5; C5ORF5 (link from Ensembl BioMart) ENSP00000034275 603327 OMIM gene: RAN-BINDING PROTEIN 3; RANBP3 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000035307 608037 OMIM gene: CHONDROITIN SULFATE GLUCURONYLTRANSFERASE (link from Ensembl BioMart) ENSP00000036971 214100 OMIM phenotype: ZELLWEGER SYNDROME; ZS Gene map locus Chr.1, 22q11.21, 1q22, 12p13.3, 1p36.2, 7q21-q22, 6q23-q24, 2p15 (link from Ensembl BioMart) ENSP00000036971 603164 OMIM gene: PEROXISOME BIOGENESIS FACTOR 3; PEX3 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12, INCLUDED Gene map locus 6q23-q24 (link from Ensembl BioMart) ENSP00000037243 607452 OMIM gene: GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 2; GABARAPL2 Gene map locus 16q22.3-q24.1 (link from Ensembl BioMart) ENSP00000037502 137750 OMIM phenotype: GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1 Gene map locus 2p22-p21, 1q24.3-q25.2, 9q34.1 (link from Ensembl BioMart) ENSP00000037502 137760 OMIM phenotype: GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG GLAUCOMA 1, OPEN ANGLE, E, INCLUDED; GLC1E, INCLUDED Gene map locus 2p22-p21, 10p15-p14, 2cen-q13 (link from Ensembl BioMart) ENSP00000037502 601652 OMIM gene: MYOCILIN; MYOC Gene map locus 1q24.3-q25.2 (link from Ensembl BioMart) ENSP00000038176 603043 OMIM gene: NEUTRAL SPHINGOMYELINASE ACTIVATION-ASSOCIATED FACTOR; NSMAF Gene map locus 8q12-q13 (link from Ensembl BioMart) ENSP00000039007 300461 OMIM gene: ORNITHINE CARBAMOYLTRANSFERASE; OTC Gene map locus Xp21.1 (link from Ensembl BioMart) ENSP00000039007 311250 OMIM phenotype: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO VALPROATE SENSITIVITY, INCLUDED Gene map locus Xp21.1 (link from Ensembl BioMart) ENSP00000040584 142970 OMIM gene: HOMEOBOX C8; HOXC8 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000040877 605052 OMIM gene: TAR RNA-BINDING PROTEIN 1; TARBP1 Gene map locus 1p (link from Ensembl BioMart) ENSP00000042931 607335 OMIM gene: VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 1; VMD2L1 Gene map locus 19p13.2-p13.12 (link from Ensembl BioMart) ENSP00000043402 605566 OMIM gene: RETICULON 4 RECEPTOR; RTN4R Gene map locus 22q11 (link from Ensembl BioMart) ENSP00000044462 176846 OMIM gene: PROTEASOME COMPONENT-9; PSC9 (link from Ensembl BioMart) ENSP00000045065 607726 OMIM gene: POLY(ADP-RIBOSE) POLYMERASE 3; PARP3 Gene map locus 3p21.3-p21.1 (link from Ensembl BioMart) ENSP00000046087 608498 OMIM gene: ZONA PELLUCIDA-BINDING PROTEIN; ZPBP (link from Ensembl BioMart) ENSP00000046640 219750 OMIM phenotype: CYSTINOSIS, ADULT NONNEPHROPATHIC Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000046640 219800 OMIM phenotype: CYSTINOSIS, NEPHROPATHIC; CTNS CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000046640 219900 OMIM phenotype: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000046640 606272 OMIM gene: CYSTINOSIN; CTNS Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000046794 601603 OMIM gene: LYMPHOCYTE CYTOSOLIC PROTEIN 2; LCP2 Gene map locus 5q33.1-qter (link from Ensembl BioMart) ENSP00000046967 109630 OMIM gene: BETA-1-ADRENERGIC RECEPTOR; ADRB1 Gene map locus 10q24-q26 (link from Ensembl BioMart) ENSP00000046967 607276 OMIM phenotype: RESTING HEART RATE Gene map locus 10q24-q26 (link from Ensembl BioMart) ENSP00000050379 300051 OMIM gene: GLYCOPROTEIN M6B; GPM6B Gene map locus Xp22.2 (link from Ensembl BioMart) ENSP00000050961 606940 OMIM gene: ZINC FINGER HOMEODOMAIN 4 Gene map locus 8q21.12 (link from Ensembl BioMart) ENSP00000051619 314850 OMIM gene: KELL BLOOD GROUP PRECURSOR; XK MCLEOD SYNDROME, INCLUDED Gene map locus Xp21.2-p21.1 (link from Ensembl BioMart) ENSP00000051659 300227 OMIM gene: SEX COMB ON MIDLEG, DROSOPHILA, HOMOLOG-LIKE 1; SCML1 Gene map locus Xp22.2-p22.1 (link from Ensembl BioMart) ENSP00000052754 125255 OMIM gene: DECORIN; DCN Gene map locus 12q13.2 (link from Ensembl BioMart) ENSP00000053243 109545 OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 17; TNFRSF17 Gene map locus 16p13.1 (link from Ensembl BioMart) ENSP00000053469 600364 OMIM gene: GUANYLATE CYCLASE ACTIVATOR 1A; GUCA1A Gene map locus 6p21.1 (link from Ensembl BioMart) ENSP00000053469 602093 OMIM phenotype: CONE DYSTROPHY 3; COD3 Gene map locus 6p21.1 (link from Ensembl BioMart) ENSP00000053867 138945 OMIM gene: GRANULIN; GRN Gene map locus 17q21.32 (link from Ensembl BioMart) ENSP00000054216 184745 OMIM gene: KIT LIGAND; KITLG Gene map locus 12q22 (link from Ensembl BioMart) ENSP00000054661 138090 OMIM gene: HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD Gene map locus 1pter-p36.13 (link from Ensembl BioMart) ENSP00000054666 603657 OMIM gene: VESICLE-ASSOCIATED MEMBRANE PROTEIN 3; VAMP3 (link from Ensembl BioMart) ENSP00000054668 604097 OMIM gene: UROTENSIN II; UTS2 (link from Ensembl BioMart) ENSP00000054670 602250 OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9 Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000054950 602735 OMIM gene: RETICULOCALBIN 1; RCN1 Gene map locus 11p13 (link from Ensembl BioMart) ENSP00000055077 194050 OMIM phenotype: WILLIAMS-BEUREN SYNDROME; WBS HYPERCALCEMIA, INFANTILE, INCLUDED Gene map locus 7q11.2 (link from Ensembl BioMart) ENSP00000055077 600404 OMIM gene: REPLICATION FACTOR C, SUBUNIT 2; RFC2 Gene map locus 7q11.23 (link from Ensembl BioMart) ENSP00000055682 300524 OMIM gene: KIAA2022 (link from Ensembl BioMart) ENSP00000056217 600888 OMIM gene: RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; ARHGEF5 Gene map locus 7q33-q35 (link from Ensembl BioMart) ENSP00000056233 604135 OMIM gene: NUCLEAR FACTOR ERYTHROID 2-LIKE 3; NFE2L3 Gene map locus 7p15-p14 (link from Ensembl BioMart) ENSP00000057513 608019 OMIM gene: TNFAIP3-INTERACTING PROTEIN 3; TNIP3 (link from Ensembl BioMart) ENSP00000058691 605609 OMIM gene: OXIDATION RESISTANCE 1; OXR1 Gene map locus 8q23 (link from Ensembl BioMart) ENSP00000058691 605825 OMIM gene: HEME-BINDING PROTEIN 2; HEBP2 Gene map locus 6q24 (link from Ensembl BioMart) ENSP00000061240 606742 OMIM gene: TOLLOID-LIKE 1; TLL1 Gene map locus 4q32-q33 (link from Ensembl BioMart) ENSP00000062030 608477 OMIM gene: ALDO-KETO REDUCTASE FAMILY 7, MEMBER A3; AKR7A3 (link from Ensembl BioMart) ENSP00000062104 603106 OMIM gene: NEURONATIN; NNAT Gene map locus 20q11.2-q12 (link from Ensembl BioMart) ENSP00000063380 606695 OMIM gene: OPSIN 3; OPN3 Gene map locus 1q43 (link from Ensembl BioMart) ENSP00000064324 601090 OMIM gene: FORKHEAD BOX C1; FOXC1 Gene map locus 6p25 (link from Ensembl BioMart) ENSP00000064324 601631 OMIM phenotype: IRIDOGONIODYSGENESIS, TYPE 1; IRID1 GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL, INCLUDED Gene map locus 6p25 (link from Ensembl BioMart) ENSP00000064324 604229 OMIM phenotype: PETERS ANOMALY Gene map locus 2p22-p21 (link from Ensembl BioMart) ENSP00000064724 601326 OMIM gene: CLAUDIN 11; CLDN11 Gene map locus 3q26.2-q26.3 (link from Ensembl BioMart) ENSP00000066544 116946 OMIM gene: CELL DIVISION CYCLE 27; CDC27 Gene map locus 17q12-q23.2 (link from Ensembl BioMart) ENSP00000070846 602861 OMIM gene: PLAKOPHILIN 2; PKP2 Gene map locus 12p11 (link from Ensembl BioMart) ENSP00000070846 609040 OMIM phenotype: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9 Gene map locus 12p11 (link from Ensembl BioMart) ENSP00000071246 603423 OMIM gene: PR DOMAIN-CONTAINING PROTEIN 1; PRDM1 Gene map locus 6q21-q22.1 (link from Ensembl BioMart) ENSP00000071281 300163 OMIM gene: FOUR-AND-A-HALF LIM DOMAINS 1; FHL1 Gene map locus Xq27.2 (link from Ensembl BioMart) ENSP00000072516 602626 OMIM gene: INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; IL1RAP Gene map locus 3q28 (link from Ensembl BioMart) ENSP00000075085 604389 OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-10; GNG10 (link from Ensembl BioMart) ENSP00000075120 138170 OMIM gene: SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 3; SLC2A3 SOLUTE CARRIER FAMILY 2, MEMBER 3 PSEUDOGENE, INCLUDED; SLC2A3P, INCLUDED Gene map locus 12p13.3 (link from Ensembl BioMart) ENSP00000075232 131240 OMIM gene: ENDOTHELIN 1; EDN1 PREPROENDOTHELIN 1, INCLUDED Gene map locus 6p24-p23 (link from Ensembl BioMart) ENSP00000075322 601060 OMIM gene: ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 2; ENPP2 Gene map locus 8q24.1 (link from Ensembl BioMart) ENSP00000075430 604927 OMIM gene: C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; CTDP1 TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1, ISOFORM A, INCLUDED; FCP1A, INCLUDED Gene map locus 18q23 (link from Ensembl BioMart) ENSP00000078429 139313 OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11 Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000080059 606542 OMIM gene: HISTONE DEACETYLASE 7A; HDAC7A Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000080856 603038 OMIM gene: SPERM-ASSOCIATED ANTIGEN 4; SPAG4 Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000083182 605324 OMIM gene: AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 2; APPBP2 Gene map locus 17q22-q23 (link from Ensembl BioMart) ENSP00000084795 604179 OMIM gene: RIBOSOMAL PROTEIN L18; RPL18 Gene map locus 19q (link from Ensembl BioMart) ENSP00000084798 604644 OMIM gene: CARBONIC ANHYDRASE XI; CA11 Gene map locus 19q13.2-q13.3 (link from Ensembl BioMart) ENSP00000085079 607262 OMIM gene: EPSIN 1; EPN1 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000085219 107266 OMIM gene: CD22 ANTIGEN; CD22 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000086933 601845 OMIM gene: GOOSECOID-LIKE; GSCL Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000155093 490000 OMIM gene: ZINC FINGER PROTEIN, Y-LINKED; ZFY Gene map locus Yp11.3 (link from Ensembl BioMart) ENSP00000155840 192500 OMIM phenotype: LONG QT SYNDROME 1; LQT1 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000155840 220400 OMIM phenotype: JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1 Gene map locus 21q22.1-q22.2, 11p15.5 (link from Ensembl BioMart) ENSP00000155840 607542 OMIM gene: POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000155840 607554 OMIM phenotype: ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1 Gene map locus 21q22.1, 11p15.5 (link from Ensembl BioMart) ENSP00000155840 609621 OMIM phenotype: SHORT QT SYNDROME 2; SQT2 (link from Ensembl BioMart) ENSP00000155926 609462 OMIM gene: TRIBBLES, DROSOPHILA, HOMOLOG OF, 2; TRIB2 (link from Ensembl BioMart) ENSP00000156097 311240 OMIM gene: ORNITHINE AMINOTRANSFERASE-LIKE 1; OATL1 Gene map locus Xp11.3-p11.23 (link from Ensembl BioMart) ENSP00000156476 605505 OMIM gene: KALLIKREIN 13; KLK13 KALLIKREIN-LIKE 4 VARIANT, INCLUDED Gene map locus 19q13.3-q13.4 (link from Ensembl BioMart) ENSP00000156499 606135 OMIM gene: KALLIKREIN 14; KLK14 (link from Ensembl BioMart) ENSP00000156825 603573 OMIM gene: METHYL-CpG-BINDING DOMAIN PROTEIN 3; MBD3 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000157600 604859 OMIM gene: LIM AND CYSTEINE-RICH DOMAINS 1; LMCD1 Gene map locus 3p26-p24 (link from Ensembl BioMart) ENSP00000157812 602707 OMIM gene: PROTEASOME 26S SUBUNIT, ATPase, 4; PSMC4 Gene map locus 19q13.11-q13.13 (link from Ensembl BioMart) ENSP00000158526 300453 OMIM gene: FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER A; FAM50A (link from Ensembl BioMart) ENSP00000158762 607763 OMIM gene: CENTAURIN, BETA-1; CENTB1 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000159060 607105 OMIM gene: NADPH OXIDASE 3; NOX3 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000159111 609765 OMIM gene: JUMONJI DOMAIN-CONTAINING PROTEIN 2B; JMJD2B (link from Ensembl BioMart) ENSP00000159647 608421 OMIM gene: PANNEXIN 2; PANX2 (link from Ensembl BioMart) ENSP00000160262 146631 OMIM gene: INTERCELLULAR ADHESION MOLECULE 3; ICAM3 Gene map locus 19p13.3-p13.2 (link from Ensembl BioMart) ENSP00000160373 609772 OMIM gene: CORTACTIN-BINDING PROTEIN 2; CTTNBP2 Gene map locus 7q31 (link from Ensembl BioMart) ENSP00000160698 601990 OMIM gene: TUMOR PROTEIN p73; TP73 Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000160827 603213 OMIM gene: KINESIN-LIKE 4; KNSL4 Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000160874 607477 OMIM gene: G2- AND S-PHASE EXPRESSED GENE 1; GTSE1 (link from Ensembl BioMart) ENSP00000161006 609343 OMIM gene: PROTEASE, SERINE, 22; PRSS22 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000161284 312180 OMIM gene: UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A Gene map locus Xq24-q25 (link from Ensembl BioMart) ENSP00000161559 109770 OMIM gene: CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 1; CEACAM1 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE PSEUDOGENES, INCLUDED Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000162023 600661 OMIM gene: MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE B; MEF2B Gene map locus 19p12 (link from Ensembl BioMart) ENSP00000162330 602941 OMIM gene: BREAST CANCER ANTIESTROGEN RESISTANCE 1; BCAR1 Gene map locus 16q23.1 (link from Ensembl BioMart) ENSP00000162749 142680 OMIM phenotype: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT Gene map locus 12p13.2 (link from Ensembl BioMart) ENSP00000162749 191190 OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A Gene map locus 12p13.2 (link from Ensembl BioMart) ENSP00000163256 300368 OMIM gene: SOLUTE CARRIER FAMILY 9, ISOFORM 7; SLC9A7 Gene map locus Xp11.3 (link from Ensembl BioMart) ENSP00000163282 154030 OMIM gene: NUCLEASE-SENSITIVE ELEMENT-BINDING PROTEIN 1; NSEP1 Gene map locus 1p34 (link from Ensembl BioMart) ENSP00000163416 188550 OMIM phenotype: THYROID CARCINOMA, PAPILLARY Gene map locus 17q23-q24, 14q, 10q21, 10q11.2, 1p13, 8p22-p21.3, 7q32-q34 (link from Ensembl BioMart) ENSP00000163416 606918 OMIM gene: GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 5; GOLGA5 PTC5 CHIMERIC ONCOGENE, INCLUDED Gene map locus 14q (link from Ensembl BioMart) ENSP00000164024 604264 OMIM gene: CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 3; CELSR3 Gene map locus 3p24.1-p21.2 (link from Ensembl BioMart) ENSP00000164133 601644 OMIM gene: PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), BETA; PPP2R5B Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000164139 232600 OMIM phenotype: GLYCOGEN STORAGE DISEASE V Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000164139 608455 OMIM gene: GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000164227 109560 OMIM gene: B-CELL LEUKEMIA/LYMPHOMA 3; BCL3 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000164247 601142 OMIM gene: POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 2; KCNAB2 Gene map locus 1p36.3 (link from Ensembl BioMart) ENSP00000164305 604122 OMIM gene: PHOSPHATIDYLINOSITOL GLYCAN, CLASS B; PIGB Gene map locus 15q21-q22 (link from Ensembl BioMart) ENSP00000164316 602278 OMIM gene: NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 4; NEDD4 Gene map locus 15q (link from Ensembl BioMart) ENSP00000165317 604746 OMIM gene: TESTIS-SPECIFIC PROTEIN KINASE 2; TESK2 (link from Ensembl BioMart) ENSP00000165524 602663 OMIM gene: PROLACTIN-RELEASING HORMONE; PRLH (link from Ensembl BioMart) ENSP00000165698 609139 OMIM gene: RECEPTOR EXPRESSION-ENHANCING PROTEIN 1 (link from Ensembl BioMart) ENSP00000166139 605343 OMIM gene: FOLLISTATIN-LIKE 3; FSTL3 Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000166244 176945 OMIM gene: EPHRIN RECEPTOR EphA8; EPHA8 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000166345 604507 OMIM gene: THYROID HORMONE RECEPTOR INTERACTOR 13; TRIP13 (link from Ensembl BioMart) ENSP00000166534 600608 OMIM gene: PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 2; P4HA2 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000167106 609011 OMIM gene: VASOHIBIN (link from Ensembl BioMart) ENSP00000167218 600866 OMIM gene: PROGRAMMED CELL DEATH 2; PDCD2 Gene map locus 6q27 (link from Ensembl BioMart) ENSP00000167586 131760 OMIM phenotype: EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE Gene map locus 17q12-q21, 12q13 (link from Ensembl BioMart) ENSP00000167586 131800 OMIM phenotype: EPIDERMOLYSIS BULLOSA OF HANDS AND FEET Gene map locus 17q12-q21, 17q11-qter, 12q13 (link from Ensembl BioMart) ENSP00000167586 131900 OMIM phenotype: EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2 Gene map locus 17q12-q21, 12q13 (link from Ensembl BioMart) ENSP00000167586 148066 OMIM gene: KERATIN 14; KRT14 Gene map locus 17q12-q21 (link from Ensembl BioMart) ENSP00000167586 601001 OMIM phenotype: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE Gene map locus 17q12-q21 (link from Ensembl BioMart) ENSP00000167588 608218 OMIM gene: KERATIN 20; KRT20 (link from Ensembl BioMart) ENSP00000168148 602637 OMIM gene: SECRETED PHOSPHOPROTEIN 2; SPP2 Gene map locus 2q37-qter (link from Ensembl BioMart) ENSP00000168216 300256 OMIM gene: HYDROXYACYL-CoA DEHYDROGENASE, TYPE II; HADH2 Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000168216 300438 OMIM phenotype: HYDROXYACYL-CoA DEHYDROGENASE, TYPE II, DEFICIENCY Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000168712 164980 OMIM gene: FIBROBLAST GROWTH FACTOR 4; FGF4 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000168977 608705 OMIM gene: INTEGRIN, BETA-1, BINDING PROTEIN OF, 3; ITGB1BP3 NICOTINAMIDE RIBOSIDE KINASE 2, INCLUDED; NRK2, INCLUDED (link from Ensembl BioMart) ENSP00000169293 600521 OMIM gene: MANNAN-BINDING LECTIN SERINE PROTEASE 1; MASP1 Gene map locus 3q27-q28 (link from Ensembl BioMart) ENSP00000169298 109675 OMIM gene: SIALYLTRANSFERASE 1; SIAT1 Gene map locus 3q21-q28 (link from Ensembl BioMart) ENSP00000169565 606405 OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-5 SUBUNIT; CACNG5 Gene map locus 17q24 (link from Ensembl BioMart) ENSP00000169778 300413 OMIM gene: MUSCLEBLIND-LIKE PROTEIN 3; MBNL3 Gene map locus Xq26 (link from Ensembl BioMart) ENSP00000170168 609614 OMIM gene: RNA EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; REXO1 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000170447 608426 OMIM gene: MAKORIN 2; MKRN2 Gene map locus 3p25 (link from Ensembl BioMart) ENSP00000170629 603246 OMIM gene: GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 1; GTF3C1 (link from Ensembl BioMart) ENSP00000170630 147781 OMIM gene: INTERLEUKIN 4 RECEPTOR; IL4R Gene map locus 16p12.1-p11.2 (link from Ensembl BioMart) ENSP00000170703 604658 OMIM gene: TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1; TM7SF1 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1, LONG, INCLUDED; TM7SF1L, INCLUDED Gene map locus 1q42-q43 (link from Ensembl BioMart) ENSP00000171000 606057 OMIM gene: RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; RAPGEF3 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000171111 606016 OMIM gene: KELCH-LIKE ECH-ASSOCIATED PROTEIN 1; KEAP1 (link from Ensembl BioMart) ENSP00000171214 608575 OMIM gene: RETINOL DEHYDROGENASE 8; RDH8 Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000171620 603253 OMIM gene: CYSTATIN 7; CST7 (link from Ensembl BioMart) ENSP00000171757 300529 OMIM gene: PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 10; P2RY10 (link from Ensembl BioMart) ENSP00000171887 600076 OMIM gene: TENSIN; TNS Gene map locus 2q35-q36 (link from Ensembl BioMart) ENSP00000172196 190320 OMIM phenotype: TRICHODENTOOSSEOUS SYNDROME Gene map locus 17q21.3-q22 (link from Ensembl BioMart) ENSP00000172196 600525 OMIM gene: DISTAL-LESS HOMEOBOX 3; DLX3 Gene map locus 17q21.3-q22 (link from Ensembl BioMart) ENSP00000172229 162010 OMIM gene: NERVE GROWTH FACTOR RECEPTOR; NGFR Gene map locus 17q21-q22 (link from Ensembl BioMart) ENSP00000172853 161650 OMIM gene: NEBULIN; NEB Gene map locus 2q22 (link from Ensembl BioMart) ENSP00000172853 256030 OMIM phenotype: NEMALINE MYOPATHY 2; NEM2 Gene map locus 2q22 (link from Ensembl BioMart) ENSP00000173229 601614 OMIM gene: NETRIN 1, MOUSE, HOMOLOG OF; NTN1 (link from Ensembl BioMart) ENSP00000173385 601735 OMIM gene: SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 1; SMARCD1 Gene map locus 12q13-q14 (link from Ensembl BioMart) ENSP00000173785 602053 OMIM gene: KRUPPEL-LIKE FACTOR 6; KLF6 Gene map locus 10p15 (link from Ensembl BioMart) ENSP00000173898 300132 OMIM gene: TROPHININ; TRO Gene map locus Xp11.22-p11.21 (link from Ensembl BioMart) ENSP00000174618 603039 OMIM gene: MAX-BINDING PROTEIN; MNT Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000174621 602076 OMIM gene: TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1; TRPV1 Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000175137 300288 OMIM gene: G ANTIGEN, FAMILY B, 1; GAGEB1 Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000175238 607310 OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 7; ADAM7 Gene map locus 8p12 (link from Ensembl BioMart) ENSP00000175506 108370 OMIM gene: ASPARAGINE SYNTHETASE; ASNS Gene map locus 7q21-q31 (link from Ensembl BioMart) ENSP00000175756 606587 OMIM gene: PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 18; PTPN18 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000176183 126452 OMIM gene: DOPAMINE RECEPTOR D4; DRD4 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000176195 182099 OMIM gene: SECRETIN; SCT Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000176643 270200 OMIM phenotype: SJOGREN-LARSSON SYNDROME; SLS Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000176643 609523 OMIM gene: ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2 Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000176763 603919 OMIM gene: SERINE/THREONINE PROTEIN KINASE 10; STK10 Gene map locus 5q35.1 (link from Ensembl BioMart) ENSP00000177648 607347 OMIM gene: LYMPHOCYTE ALPHA KINASE Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000177694 604895 OMIM gene: T-BOX 21; TBX21 (link from Ensembl BioMart) ENSP00000178510 602592 OMIM gene: LYMPHOCYTE ANTIGEN CD5-LIKE; CD5L Gene map locus 1q21-q23 (link from Ensembl BioMart) ENSP00000178638 603263 OMIM gene: CARBONIC ANHYDRASE XII; CA12 Gene map locus 15q22 (link from Ensembl BioMart) ENSP00000178640 602520 OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE 5; MAP2K5 (link from Ensembl BioMart) ENSP00000179765 605682 OMIM gene: BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 2A; BAZ2A Gene map locus 12q24.3-qter (link from Ensembl BioMart) ENSP00000179882 604586 OMIM gene: SYNTAXIN-BINDING PROTEIN 5; STXBP5 Gene map locus 6q24.3 (link from Ensembl BioMart) ENSP00000180166 605558 OMIM gene: FIBROBLAST GROWTH FACTOR 20; FGF20 Gene map locus 8p22-p21.3 (link from Ensembl BioMart) ENSP00000180173 603562 OMIM gene: MYOTUBULARIN-RELATED PROTEIN 7; MTMR7 Gene map locus 8p22 (link from Ensembl BioMart) ENSP00000181092 608602 OMIM gene: NUCLEAR BODY PROTEIN SP140; SP140 (link from Ensembl BioMart) ENSP00000181383 603101 OMIM gene: CARBOXYPEPTIDASE B2, PLASMA; CPB2 Gene map locus 13q14.11 (link from Ensembl BioMart) ENSP00000181506 604912 OMIM gene: TAF2 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 150-KD; TAF2 (link from Ensembl BioMart) ENSP00000181534 606168 OMIM gene: DEAD/H BOX 20; DDX20 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000181839 603309 OMIM gene: CELL DIVISION CYCLE 2-LIKE 5; CDC2L5 (link from Ensembl BioMart) ENSP00000182290 603853 OMIM gene: TETRASPANIN 32; TSPAN32 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000182527 608485 OMIM gene: TRANSLOCATION-ASSOCIATED MEMBRANE PROTEIN 2; TRAM2 (link from Ensembl BioMart) ENSP00000183605 609210 OMIM gene: CLAUDIN 18; CLDN18 (link from Ensembl BioMart) ENSP00000183936 114240 OMIM gene: CALPAIN 3; CAPN3 Gene map locus 15q15.1-q21.1 (link from Ensembl BioMart) ENSP00000184266 603840 OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 4; NDUFB4 (link from Ensembl BioMart) ENSP00000185162 607705 OMIM gene: PROTEASOME ACTIVATOR SUBUNIT 4; PSME4 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000185206 607293 OMIM gene: CHLORIDE INTRACELLULAR CHANNEL 5; CLIC5 Gene map locus 6p21.1-p12.1 (link from Ensembl BioMart) ENSP00000185520 606105 OMIM gene: CHOLINE TRANSPORTER-LIKE PROTEIN 1 (link from Ensembl BioMart) ENSP00000185885 602961 OMIM gene: UBIQUITIN-CONJUGATING ENZYME E2D 1; UBE2D1 (link from Ensembl BioMart) ENSP00000185942 600936 OMIM gene: HYALURONAN-MEDIATED MOTILITY RECEPTOR; HMMR Gene map locus 5q33.2 (link from Ensembl BioMart) ENSP00000186982 600262 OMIM gene: PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2 Gene map locus 1q25.2-q25.3 (link from Ensembl BioMart) ENSP00000187397 605488 OMIM gene: cAMP-REGULATED PHOSPHOPROTEIN, 21-KD (link from Ensembl BioMart) ENSP00000187830 173850 OMIM gene: POLIOVIRUS RECEPTOR; PVR POLIOVIRUS, SUSCEPTIBILITY TO, INCLUDED Gene map locus 19q13.2-q13.3 (link from Ensembl BioMart) ENSP00000187836 176393 OMIM gene: PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 4; PSG4 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000187836 176396 OMIM gene: PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 7; PSG7 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000187910 176395 OMIM gene: PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 6; PSG6 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000187910 176399 OMIM gene: PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 10; PSG10 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000188376 600370 OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 3; SLC25A3 Gene map locus 12q23 (link from Ensembl BioMart) ENSP00000188403 603826 OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4 Gene map locus 12q (link from Ensembl BioMart) ENSP00000188790 600403 OMIM gene: FIBROBLAST ACTIVATION PROTEIN, ALPHA; FAP Gene map locus 2q23 (link from Ensembl BioMart) ENSP00000189444 164012 OMIM gene: NUCLEAR FACTOR KAPPA-B, SUBUNIT 2; NFKB2 Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000189978 600878 OMIM phenotype: RECEPTOR TYROSINE KINASE NSK2 (link from Ensembl BioMart) ENSP00000189978 601296 OMIM gene: MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK Gene map locus 9q31.3-q32 (link from Ensembl BioMart) ENSP00000190611 606734 OMIM gene: OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 6; OSBPL6 Gene map locus 2q32.1 (link from Ensembl BioMart) ENSP00000190668 609202 OMIM gene: SECRETAGOGIN; SCGN (link from Ensembl BioMart) ENSP00000190983 603399 OMIM gene: WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 2; WISP2 Gene map locus 20q12-q13 (link from Ensembl BioMart) ENSP00000191018 256540 OMIM gene: NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY BETA-GALACTOSIDASE PROTECTIVE PROTEIN, INCLUDED; PPGB, INCLUDED Gene map locus 20q13.1 (link from Ensembl BioMart) ENSP00000191922 606553 OMIM gene: SOLUTE CARRIER FAMILY 9, ISOFORM 3, REGULATORY FACTOR 2; SLC9A3R2 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000192314 608237 OMIM gene: GLYCOPROTEIN BETA-GALACTOSE 3-PRIME-SULFOTRANSFERASE (link from Ensembl BioMart) ENSP00000193186 120280 OMIM gene: COLLAGEN, TYPE XI, ALPHA-1; COL11A1 Gene map locus 1p21 (link from Ensembl BioMart) ENSP00000193186 154780 OMIM phenotype: MARSHALL SYNDROME Gene map locus 1p21 (link from Ensembl BioMart) ENSP00000193186 604841 OMIM phenotype: STICKLER SYNDROME, TYPE II; STL2 Gene map locus 1p21 (link from Ensembl BioMart) ENSP00000193322 259700 OMIM phenotype: OSTEOPETROSIS, AUTOSOMAL RECESSIVE Gene map locus 16p13, 11q13.4-q13.5, 6q21 (link from Ensembl BioMart) ENSP00000193322 607649 OMIM gene: OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1 Gene map locus 6q21 (link from Ensembl BioMart) ENSP00000193391 607056 OMIM gene: INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2; IMPG2 Gene map locus 3q11.2 (link from Ensembl BioMart) ENSP00000193403 102575 OMIM gene: ACTININ, ALPHA-1; ACTN1 Gene map locus 14q22-q24 (link from Ensembl BioMart) ENSP00000193532 151460 OMIM gene: PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC Gene map locus 1q31-q32 (link from Ensembl BioMart) ENSP00000194039 604835 OMIM gene: DUAL-SPECIFICITY PHOSPHATASE 12; DUSP12 Gene map locus 1q21-q22 (link from Ensembl BioMart) ENSP00000194097 253300 OMIM phenotype: SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 Gene map locus 5q12.2-q13.3 (link from Ensembl BioMart) ENSP00000194097 600355 OMIM gene: BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 1; BIRC1 Gene map locus 5q12.2-q13.3 (link from Ensembl BioMart) ENSP00000194130 606193 OMIM gene: SOLUTE CARRIER FAMILY 13 (SODIUM/SULFATE SYMPORTER), MEMBER 1; SLC13A1 Gene map locus 7q31-q32 (link from Ensembl BioMart) ENSP00000194152 604967 OMIM phenotype: PROTOCADHERIN-BETA GENE CLUSTER Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000194152 606330 OMIM gene: PROTOCADHERIN-BETA 4; PCDHB4 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000194155 604967 OMIM phenotype: PROTOCADHERIN-BETA GENE CLUSTER Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000194155 606328 OMIM gene: PROTOCADHERIN-BETA 2; PCDHB2 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000194530 607333 OMIM gene: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CHROMOSOME REGION GENE 2; ALS2CR2 Gene map locus 2q33-q34 (link from Ensembl BioMart) ENSP00000195173 609298 OMIM gene: SEMAPHORIN 5B; SEMA5B (link from Ensembl BioMart) ENSP00000195419 602559 OMIM gene: EXPORTIN 1; XPO1 Gene map locus 2p16 (link from Ensembl BioMart) ENSP00000195649 607923 OMIM gene: SYNAPTOSOMAL-ASSOCIATED PROTEIN, 91-KD; SNAP91 (link from Ensembl BioMart) ENSP00000196061 153454 OMIM gene: PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1 Gene map locus 1p36.3-p36.2 (link from Ensembl BioMart) ENSP00000196061 225400 OMIM phenotype: EHLERS-DANLOS SYNDROME, TYPE VI Gene map locus 1p36.3-p36.2 (link from Ensembl BioMart) ENSP00000196371 245050 OMIM gene: 3-@OXOACID CoA TRANSFERASE; OXCT SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY, INCLUDED Gene map locus 5p13 (link from Ensembl BioMart) ENSP00000196548 194532 OMIM gene: ZINC FINGER PROTEIN 8; ZNF8 Gene map locus 20q13 (link from Ensembl BioMart) ENSP00000196551 603630 OMIM gene: RIBOSOMAL PROTEIN S5; RPS5 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000196805 606480 OMIM gene: ZINC METALLOPROTEINASE STE24; ZMPSTE24 Gene map locus 1p34 (link from Ensembl BioMart) ENSP00000196805 608612 OMIM phenotype: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Gene map locus 1p34 (link from Ensembl BioMart) ENSP00000196968 134660 OMIM gene: GLUTATHIONE S-TRANSFERASE, PI; GSTP1 GLUTATHIONE S-TRANSFERASE PI PSEUDOGENE, INCLUDED; GSTPP, INCLUDED Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000197492 603911 OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 2; EIF3S2 Gene map locus 1p34.1 (link from Ensembl BioMart) ENSP00000198536 605341 OMIM gene: paIRED IMMUNOGLOBULIN-LIKE RECEPTOR, ALPHA; PILRA Gene map locus 7q22 (link from Ensembl BioMart) ENSP00000198765 604207 OMIM gene: COPINE III; CPNE3 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000198767 605121 OMIM gene: RRN3, S. CEREVISIAE, HOMOLOG OF; RRN3 Gene map locus 16p12 (link from Ensembl BioMart) ENSP00000199168 137060 OMIM gene: UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1; B4GALT1 LACTOSE SYNTHETASE, INCLUDED Gene map locus 9p13 (link from Ensembl BioMart) ENSP00000199168 607091 OMIM phenotype: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId Gene map locus 9p13 (link from Ensembl BioMart) ENSP00000199280 107777 OMIM gene: AQUAPORIN 2; AQP2 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000199280 125800 OMIM phenotype: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000199447 607421 OMIM gene: THIOREDOXIN DOMAIN-CONTAINING 3; TXNDC3 (link from Ensembl BioMart) ENSP00000199674 600902 OMIM gene: SELENOPHOSPHATE SYNTHETASE 1 (link from Ensembl BioMart) ENSP00000199706 604853 OMIM gene: MELANOMA-ASSOCIATED ANTIGEN RECOGNIZED BY T LYMPHOCYTES; MAAT1 (link from Ensembl BioMart) ENSP00000199708 142240 OMIM gene: HEMOGLOBIN--THETA-1 LOCUS; HBQ1 Gene map locus 16pter-p13.3 (link from Ensembl BioMart) ENSP00000199712 607345 OMIM gene: TUBULIN, EPSILON Gene map locus 6q21 (link from Ensembl BioMart) ENSP00000199764 163980 OMIM gene: CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 6; CEACAM6 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000199936 109685 OMIM gene: 17-@BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2 Gene map locus 16q24.1-q24.2 (link from Ensembl BioMart) ENSP00000199940 157130 OMIM gene: MICROTUBULE-ASSOCIATED PROTEIN 2; MAP2 Gene map locus 2q34-q35 (link from Ensembl BioMart) ENSP00000200135 603954 OMIM gene: ZESTE-WHITE 10, DROSOPHILA, HOMOLOG OF; ZW10 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000200181 147557 OMIM gene: INTEGRIN, BETA-4; ITGB4 Gene map locus 17q11-qter (link from Ensembl BioMart) ENSP00000200181 226650 OMIM phenotype: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB Gene map locus 18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3 (link from Ensembl BioMart) ENSP00000200181 226730 OMIM phenotype: EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA URETEROVESICAL STENOSIS, INCLUDED Gene map locus 17q11-qter, Chr.2 (link from Ensembl BioMart) ENSP00000200307 158106 OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 7; CCL7 Gene map locus 17q11.2-q12 (link from Ensembl BioMart) ENSP00000200383 603402 OMIM gene: ACYL-CoA OXIDASE 3, PRISTANOYL; ACOX3 Gene map locus 4p15.3 (link from Ensembl BioMart) ENSP00000200457 602933 OMIM gene: THYROID HORMONE RECEPTOR INTERACTOR 6; TRIP6 Gene map locus 7q22 (link from Ensembl BioMart) ENSP00000200557 155120 OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11 Gene map locus 17q21.3 (link from Ensembl BioMart) ENSP00000200639 309060 OMIM gene: LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2 Gene map locus Xq24 (link from Ensembl BioMart) ENSP00000200652 266600 OMIM phenotype: INFLAMMATORY BOWEL DISEASE 1; IBD1 Gene map locus 19p13, 16q12, 16p, 14q11-q12, 12p13.2-q24.1, 10q23, 6p, 5q31, 3p26, 1p36 (link from Ensembl BioMart) ENSP00000200652 604190 OMIM gene: SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000200676 118470 OMIM gene: CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP Gene map locus 16q21 (link from Ensembl BioMart) ENSP00000200676 607322 OMIM phenotype: CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY Gene map locus 16q21 (link from Ensembl BioMart) ENSP00000200691 139255 OMIM gene: METALLOTHIONEIN 3; MT3 Gene map locus 16q13 (link from Ensembl BioMart) ENSP00000201015 168470 OMIM gene: PARATHYROID HORMONE-LIKE HORMONE; PTHLH HUMORAL HYPERCALCEMIA OF MALIGNANCY, INCLUDED; HHM, INCLUDED Gene map locus 12p12.1-p11.2 (link from Ensembl BioMart) ENSP00000201016 608725 OMIM gene: PHOSPHATASE AND ACTIN REGULATOR 3; PHACTR3 (link from Ensembl BioMart) ENSP00000201031 601602 OMIM gene: TRANSCRIPTION FACTOR AP2-GAMMA; TFAP2C Gene map locus 20q13.2 (link from Ensembl BioMart) ENSP00000201586 604125 OMIM gene: SULFOTRANSFERASE FAMILY 2B, MEMBER 1; SULT2B1 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000201886 603445 OMIM gene: KH-TYPE SPLICING REGULATORY PROTEIN; KHSRP (link from Ensembl BioMart) ENSP00000201943 114207 OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-1 SUBUNIT; CACNB1 Gene map locus 17q21-q22 (link from Ensembl BioMart) ENSP00000201963 602900 OMIM gene: DNA METHYLTRANSFERASE 3B; DNMT3B Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000202028 602879 OMIM gene: ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 1; EPB41L1 (link from Ensembl BioMart) ENSP00000202507 608188 OMIM gene: GCD10, S. CEREVISIAE, HOMOLOG OF Gene map locus 20p13-p12.3 (link from Ensembl BioMart) ENSP00000202556 606455 OMIM gene: PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 13B; PPP1R13B (link from Ensembl BioMart) ENSP00000202584 606610 OMIM gene: p47, RAT, HOMOLOG OF Gene map locus 20p (link from Ensembl BioMart) ENSP00000202773 603703 OMIM gene: RIBOSOMAL PROTEIN L6; RPL6 Gene map locus 12q (link from Ensembl BioMart) ENSP00000202788 606723 OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 5; MAPKAPK5 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000202831 609841 OMIM gene: SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 6; SLC24A6 Gene map locus 12q24 (link from Ensembl BioMart) ENSP00000202917 164350 OMIM gene: 2-PRIME,5-PRIME-@OLIGOADENYLATE SYNTHETASE 1; OAS1 VIRAL INFECTION, SUSCEPTIBILITY TO, INCLUDED Gene map locus 12q24.2 (link from Ensembl BioMart) ENSP00000202967 604482 OMIM gene: SIRTUIN 4; SIRT4 Gene map locus 12q (link from Ensembl BioMart) ENSP00000203005 118920 OMIM gene: CHROMOGRANIN B; CHGB Gene map locus 20pter-p12 (link from Ensembl BioMart) ENSP00000203407 191328 OMIM gene: UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN I; UQCRC1 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000203556 609694 OMIM gene: GEM-INTERACTING PROTEIN; GMIP Gene map locus 19p12-p11 (link from Ensembl BioMart) ENSP00000203629 153337 OMIM gene: LYMPHOCYTE ACTIVATION GENE 3; LAG3 Gene map locus 12p13.32 (link from Ensembl BioMart) ENSP00000203630 601401 OMIM gene: MYELOID LEUKEMIA FACTOR 2; MLF2 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000203664 608338 OMIM gene: OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 2 (link from Ensembl BioMart) ENSP00000203786 300023 OMIM gene: GTPase-ACTIVATING PROTEIN, RHO, 4; ARHGAP4 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000204005 604710 OMIM gene: LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4; LTBP4 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4, SHORT, INCLUDED; LTBP4S, INCLUDED (link from Ensembl BioMart) ENSP00000204113 600323 OMIM gene: REGULATOR OF G PROTEIN SIGNALING 1; RGS1 Gene map locus 1q31 (link from Ensembl BioMart) ENSP00000204279 609724 OMIM gene: YIPPEE-LIKE 3; YPEL3 (link from Ensembl BioMart) ENSP00000204307 603838 OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 2; NDUFB2 (link from Ensembl BioMart) ENSP00000204517 600743 OMIM gene: TRANSCRIPTION FACTOR AP4; TFAP4 Gene map locus 16p13 (link from Ensembl BioMart) ENSP00000204549 608138 OMIM gene: PROGRAMMED CELL DEATH 7; PDCD7 (link from Ensembl BioMart) ENSP00000204566 608181 OMIM gene: ACIDIC CLUSTER PROTEIN, 33-KD Gene map locus 15q21-q22 (link from Ensembl BioMart) ENSP00000204604 603475 OMIM gene: CHORDIN; CHRD Gene map locus 3q27 (link from Ensembl BioMart) ENSP00000204615 187950 OMIM phenotype: THROMBOCYTHEMIA, ESSENTIAL Gene map locus 9p24, 1p34, 3q26.3-q27 (link from Ensembl BioMart) ENSP00000204615 600044 OMIM gene: THROMBOPOIETIN; THPO Gene map locus 3q26.3-q27 (link from Ensembl BioMart) ENSP00000204637 600007 OMIM gene: FMS-RELATED TYROSINE KINASE 3 LIGAND; FLT3LG (link from Ensembl BioMart) ENSP00000204679 252605 OMIM phenotype: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C Gene map locus 16p (link from Ensembl BioMart) ENSP00000204679 607838 OMIM gene: N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG Gene map locus 16p (link from Ensembl BioMart) ENSP00000204726 602581 OMIM gene: GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 3; GOLGA3 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000204732 603407 OMIM gene: POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 4; PABPC4 Gene map locus 1p36-p32 (link from Ensembl BioMart) ENSP00000204961 300035 OMIM gene: EPHRIN B1; EFNB1 Gene map locus Xq12 (link from Ensembl BioMart) ENSP00000204961 304110 OMIM phenotype: CRANIOFRONTONASAL SYNDROME; CFNS Gene map locus Xq12, Xp22 (link from Ensembl BioMart) ENSP00000205061 600753 OMIM gene: GOLGI APPARATUS PROTEIN 1; GLG1 Gene map locus 16q22-q23 (link from Ensembl BioMart) ENSP00000205143 277300 OMIM phenotype: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000205143 602768 OMIM gene: DELTA-LIKE 3; DLL3 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000205402 238331 OMIM gene: DIHYDROLIPOAMIDE DEHYDROGENASE; DLD Gene map locus 7q31-q32 (link from Ensembl BioMart) ENSP00000205402 248600 OMIM phenotype: MAPLE SYRUP URINE DISEASE MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED Gene map locus 19q13.1-q13.2, 7q31-q32 (link from Ensembl BioMart) ENSP00000205557 177850 OMIM phenotype: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT, INCLUDED Gene map locus 16p13.1 (link from Ensembl BioMart) ENSP00000205557 264800 OMIM phenotype: PSEUDOXANTHOMA ELASTICUM; PXE Gene map locus 16p13.1 (link from Ensembl BioMart) ENSP00000205557 603234 OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6 Gene map locus 16p13.1 (link from Ensembl BioMart) ENSP00000205636 607889 OMIM gene: CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 6; CKLFSF6 (link from Ensembl BioMart) ENSP00000205832 136850 OMIM gene: FUMARATE HYDRATASE; FH FUMARATE HYDRATASE, CYTOSOLIC, INCLUDED; FH1, INCLUDED Gene map locus 1q42.1 (link from Ensembl BioMart) ENSP00000205832 150800 OMIM phenotype: LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN Gene map locus 1q42.1 (link from Ensembl BioMart) ENSP00000205832 605839 OMIM phenotype: LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY Gene map locus 1q42.1 (link from Ensembl BioMart) ENSP00000205832 606812 OMIM phenotype: FUMARASE DEFICIENCY Gene map locus 1q42.1 (link from Ensembl BioMart) ENSP00000205890 600316 OMIM phenotype: DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 3; DFNB3 Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000205890 602666 OMIM gene: MYOSIN XVA; MYO15A Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000205948 138700 OMIM gene: APOLIPOPROTEIN H; APOH Gene map locus 17q23-qter (link from Ensembl BioMart) ENSP00000206249 133430 OMIM gene: ESTROGEN RECEPTOR 1; ESR1 Gene map locus 6q25.1 (link from Ensembl BioMart) ENSP00000206262 607191 OMIM gene: REGULATOR OF G PROTEIN SIGNALING 17; RGS17 (link from Ensembl BioMart) ENSP00000206423 608298 OMIM gene: URB, MOUSE, HOMOLOG OF Gene map locus 3q13.2 (link from Ensembl BioMart) ENSP00000206451 600654 OMIM gene: PROTEASOME ACTIVATOR SUBUNIT 1; PSME1 Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000206513 600749 OMIM gene: CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000206660 204000 OMIM phenotype: LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1 Gene map locus 19q13.3, 17p13.1, 1q31-q32.1, 14q11, 6q11-q16 (link from Ensembl BioMart) ENSP00000206660 605446 OMIM gene: RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1 LEBER CONGENITAL AMAUROSIS, TYPE VI, INCLUDED; LCA6, INCLUDED Gene map locus 14q11 (link from Ensembl BioMart) ENSP00000206660 608194 OMIM phenotype: CONE-ROD DYSTROPHY 9; CORD9 Gene map locus 14q11 (link from Ensembl BioMart) ENSP00000206765 190195 OMIM gene: TRANSGLUTAMINASE 1; TGM1 Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000206765 242100 OMIM phenotype: ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1 Gene map locus 17p13.1, 17p13.1, 14q11.2 (link from Ensembl BioMart) ENSP00000206765 242300 OMIM phenotype: ICHTHYOSIS, LAMELLAR, 1; LI1 SELF-HEALING COLLODION BABY, INCLUDED Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000207062 602534 OMIM gene: SYNAPTOSOMAL-ASSOCIATED PROTEIN, 23-KD; SNAP23 SNAP23B Gene map locus 15q21-q22 (link from Ensembl BioMart) ENSP00000207157 604127 OMIM gene: T-BOX 15; TBX15 Gene map locus 1p13 (link from Ensembl BioMart) ENSP00000207437 609930 OMIM gene: MYOSIN, LIGHT CHAIN 1, SLOW, A Gene map locus 12q13.13 (link from Ensembl BioMart) ENSP00000207451 606228 OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1 Gene map locus 1p35-p34 (link from Ensembl BioMart) ENSP00000207549 608897 OMIM gene: UNC13, C. ELEGANS, HOMOLOG OF, D; UNC13D Gene map locus 17q25.1 (link from Ensembl BioMart) ENSP00000207549 608898 OMIM phenotype: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 Gene map locus 17q25.1 (link from Ensembl BioMart) ENSP00000207636 116790 OMIM gene: CATECHOL-O-METHYLTRANSFERASE; COMT CATECHOL-O-METHYLTRANSFERASE ACTIVITY, LOW, IN RED CELL, INCLUDED Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000207726 608882 OMIM gene: FLAVOPROTEIN OXIDOREDUCTASE MICAL3 (link from Ensembl BioMart) ENSP00000207771 606592 OMIM gene: VANIN 3; VNN3 Gene map locus 6q23-q24 (link from Ensembl BioMart) ENSP00000207870 604049 OMIM gene: XYLULOKINASE, H. INFLUENZAE, HOMOLOG OF; XYLB Gene map locus 3p22-p21.3 (link from Ensembl BioMart) ENSP00000209665 600086 OMIM gene: ALCOHOL DEHYDROGENASE 7; ADH7 Gene map locus 4q23-q24 (link from Ensembl BioMart) ENSP00000209668 103700 OMIM gene: ALCOHOL DEHYDROGENASE 1A, ALPHA POLYPEPTIDE; ADH1 Gene map locus 4q22 (link from Ensembl BioMart) ENSP00000209718 606194 OMIM gene: KERATIN 23; KRT23 (link from Ensembl BioMart) ENSP00000209728 602627 OMIM gene: CELL DIVISION CYCLE 18, S. POMBE, HOMOLOG-LIKE; CDC18L Gene map locus 17q21.3 (link from Ensembl BioMart) ENSP00000209827 603462 OMIM gene: CELL DIVISION CYCLE 23; CDC23 Gene map locus 5q31.1 (link from Ensembl BioMart) ENSP00000209873 231550 OMIM phenotype: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA ACHALASIA-ALACRIMA SYNDROME, INCLUDED Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000209873 605378 OMIM gene: AAAS GENE; AAAS Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000209875 604478 OMIM gene: CHROMOBOX HOMOLOG 5; CBX5 (link from Ensembl BioMart) ENSP00000209929 603955 OMIM phenotype: FLAVIN-CONTAINING MONOOXYGENASE 2; FMO2 Gene map locus 1q (link from Ensembl BioMart) ENSP00000210060 600944 OMIM gene: DEOXYHYPUSINE SYNTHASE; DHPS Gene map locus 19p13.12-p13.11 (link from Ensembl BioMart) ENSP00000210187 605455 OMIM gene: RAS-ASSOCIATED PROTEIN RAB26; RAB26 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000210313 604452 OMIM gene: PROTEASOME 26S SUBUNIT, NON-ATPase, 5; PSMD5 Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000210444 605202 OMIM gene: N-ACETYLNEURAMINIC ACID PHOSPHATE SYNTHASE; NANS Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000210816 606276 OMIM gene: CARTILAGE ACIDIC PROTEIN 1; CRTAC1 (link from Ensembl BioMart) ENSP00000211076 609272 OMIM gene: TRYPTASE, DELTA-1; TPSD1 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000211122 605449 OMIM gene: GLUTATHIONE S-TRANSFERASE, ALPHA-3; GSTA3 Gene map locus 6p12.2 (link from Ensembl BioMart) ENSP00000211184 221770 OMIM phenotype: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL Gene map locus 19q13.1, 6p21.2 (link from Ensembl BioMart) ENSP00000211184 605086 OMIM gene: TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2 Gene map locus 6p21.2 (link from Ensembl BioMart) ENSP00000211196 607369 OMIM gene: POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 16; KCNK16 Gene map locus 6p21.2-p21.1 (link from Ensembl BioMart) ENSP00000211287 602899 OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE 13; MAPK13 (link from Ensembl BioMart) ENSP00000211309 138360 OMIM gene: GLUTATHIONE S-TRANSFERASE, ALPHA-2; GSTA2 Gene map locus 6p12.2 (link from Ensembl BioMart) ENSP00000211310 169740 OMIM gene: PEPSINOGEN C Gene map locus 6p21.3-p21.1 (link from Ensembl BioMart) ENSP00000211370 606520 OMIM gene: G6B PROTEIN (link from Ensembl BioMart) ENSP00000211372 180473 OMIM gene: RIBOSOMAL PROTEIN S18; RPS18 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000211475 602872 OMIM gene: CHLORIDE INTRACELLULAR CHANNEL 1; CLIC1 (link from Ensembl BioMart) ENSP00000211936 602277 OMIM gene: ZINC FINGER PROTEIN 184; ZNF184 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000211979 125647 OMIM gene: DESMOPLAKIN; DSP DESMOPLAKIN I, INCLUDED; DP1, INCLUDED Gene map locus 6p24 (link from Ensembl BioMart) ENSP00000211979 605676 OMIM phenotype: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA Gene map locus 6p24 (link from Ensembl BioMart) ENSP00000211979 607450 OMIM phenotype: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 Gene map locus 6p24 (link from Ensembl BioMart) ENSP00000211979 607655 OMIM phenotype: SKIN FRAGILITY-WOOLLY HAIR SYNDROME Gene map locus 6p24 (link from Ensembl BioMart) ENSP00000211979 609638 OMIM phenotype: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC Gene map locus 6p24 (link from Ensembl BioMart) ENSP00000211998 193065 OMIM gene: VINCULIN; VCL METAVINCULIN, INCLUDED Gene map locus 10q22.1-q23 (link from Ensembl BioMart) ENSP00000212015 604479 OMIM gene: SIRTUIN 1; SIRT1 Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000212292 147796 OMIM gene: JANUS KINASE 2; JAK2 Gene map locus 9p24 (link from Ensembl BioMart) ENSP00000212355 600742 OMIM gene: TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE III; TGFBR3 Gene map locus 1p33-p32 (link from Ensembl BioMart) ENSP00000214869 605395 OMIM gene: INTERLEUKIN 1 RECEPTOR-LIKE 1 LIGAND Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000215057 194550 OMIM gene: ZINC FINGER PROTEIN 42; ZNF42 Gene map locus 19q13.2-q13.4 (link from Ensembl BioMart) ENSP00000215095 601485 OMIM gene: SYNTAXIN 1B; STX1B Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000215115 605847 OMIM gene: B-CELL CLL/LYMPHOMA 7C; BCL7C Gene map locus 16p11 (link from Ensembl BioMart) ENSP00000215129 300098 OMIM gene: MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2 Gene map locus Xp21.3 (link from Ensembl BioMart) ENSP00000215368 602756 OMIM gene: EPHRIN A2; EFNA2 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000215375 603150 OMIM gene: ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, DELTA SUBUNIT; ATP5D (link from Ensembl BioMart) ENSP00000215473 400022 OMIM gene: PROTOCADHERIN 11, Y-LINKED; PCDH11Y Gene map locus Yp11.2 (link from Ensembl BioMart) ENSP00000215479 410000 OMIM gene: AMELOGENIN, Y-CHROMOSOMAL; AMELY Gene map locus Yp11 (link from Ensembl BioMart) ENSP00000215530 605831 OMIM gene: FIBROBLAST GROWTH FACTOR 22; FGF22 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000215539 601489 OMIM gene: INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS ACID-LABILE SUBUNIT, DEFICIENCY OF, INCLUDED Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000215565 603842 OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 7; NDUFB7 Gene map locus 19p13.12-p13.11 (link from Ensembl BioMart) ENSP00000215570 607383 OMIM gene: TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 13, YEAST, HOMOLOG OF; TIMM13 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000215574 116948 OMIM gene: CELL DIVISION CYCLE 34; CDC34 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000215587 180664 OMIM gene: POLYMERASE II, RNA, SUBUNIT E; POLR2E Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000215591 601778 OMIM gene: POLYMERASE, RNA, MITOCHONDRIAL; POLRMT POLYMERASE, RNA, NUCLEAR, SINGLE-POLYPEPTIDE, IV, INCLUDED; SPRNAPIV, INCLUDED Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000215631 604948 OMIM gene: GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, BETA; GADD45B Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000215637 102670 OMIM gene: MUCOSAL VASCULAR ADDRESSIN CELL ADHESION MOLECULE 1; MADCAM1 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000215659 602399 OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE 12; MAPK12 Gene map locus 22q13.3 (link from Ensembl BioMart) ENSP00000215727 142360 OMIM gene: HEPARIN COFACTOR II; HCF2 HCF II DEFICIENCY, INCLUDED Gene map locus 22q11 (link from Ensembl BioMart) ENSP00000215727 188050 OMIM phenotype: THROMBOPHILIA VENOUS THROMBOEMBOLISM, INCLUDED (link from Ensembl BioMart) ENSP00000215730 604202 OMIM gene: SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215730 609528 OMIM phenotype: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215739 600574 OMIM gene: LEUCINE ZIPPER-LIKE TRANSCRIPTIONAL REGULATOR 1; LZTR1 Gene map locus 22q11.1-q11.2 (link from Ensembl BioMart) ENSP00000215742 609518 OMIM gene: THAP DOMAIN-CONTAINING PROTEIN 7; THAP7 (link from Ensembl BioMart) ENSP00000215743 185261 OMIM gene: MATRIX METALLOPROTEINASE 11; MMP11 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215750 603752 OMIM gene: SOLUTE CARRIER FAMILY 7, MEMBER 4; SLC7A4 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215754 153620 OMIM gene: MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215773 602750 OMIM gene: D-DOPACHROME TAUTOMERASE; DDT Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215781 165095 OMIM gene: ONCOSTATIN M; OSM Gene map locus 22q12.1-q12.2 (link from Ensembl BioMart) ENSP00000215793 605595 OMIM gene: SPLICING FACTOR 3A, SUBUNIT 1; SF3A1 Gene map locus Chr.22 (link from Ensembl BioMart) ENSP00000215794 607057 OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 18; USP18 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215829 601062 OMIM gene: SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D3; SNRPD3 (link from Ensembl BioMart) ENSP00000215832 176948 OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215838 275350 OMIM gene: TRANSCOBALAMIN II DEFICIENCY TRANSCOBALAMIN II, INCLUDED; TCN2, INCLUDED Gene map locus 22q11.2-qter (link from Ensembl BioMart) ENSP00000215855 123630 OMIM gene: CRYSTALLIN, BETA-B3; CRYBB3 Gene map locus 22q11.2-q12.2 (link from Ensembl BioMart) ENSP00000215855 609741 OMIM phenotype: CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2 Gene map locus 22q11.2-q12.2 (link from Ensembl BioMart) ENSP00000215861 123620 OMIM gene: CRYSTALLIN, BETA-B2; CRYBB2 Gene map locus 22q11.2-q12.2 (link from Ensembl BioMart) ENSP00000215861 601547 OMIM phenotype: CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2 Gene map locus 22q11.2-q12.2 (link from Ensembl BioMart) ENSP00000215861 604219 OMIM phenotype: CATARACT, AUTOSOMAL DOMINANT Gene map locus 12q13, 3q21-q25 (link from Ensembl BioMart) ENSP00000215861 604307 OMIM phenotype: CATARACT, COPPOCK-LIKE; CCL Gene map locus 2q33-q35 (link from Ensembl BioMart) ENSP00000215861 607133 OMIM phenotype: CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES Gene map locus 22q11.2-q12.2 (link from Ensembl BioMart) ENSP00000215882 190315 OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, CITRATE TRANSPORTER), MEMBER 1; SLC25A1 Gene map locus 22q11 (link from Ensembl BioMart) ENSP00000215886 150571 OMIM gene: LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 2; LGALS2 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, INCLUDED Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000215904 609246 OMIM gene: PYRIDOXAL PHOSPHATASE; PDXP (link from Ensembl BioMart) ENSP00000215909 150570 OMIM gene: LECTIN, BETA-GALACTOSIDE BINDING, SOLUBLE, 1; LGALS1 Gene map locus 22q12-q13.1 (link from Ensembl BioMart) ENSP00000215919 605165 OMIM gene: ZINC FINGER PROTEIN 278; ZNF278 ZNF278/EWS FUSION GENE, INCLUDED Gene map locus 22q12 (link from Ensembl BioMart) ENSP00000215939 600929 OMIM gene: CRYSTALLIN, BETA-B1; CRYBB1 CATARACT, PULVERULENT, INCLUDED Gene map locus 22q11.2-q12.1 (link from Ensembl BioMart) ENSP00000215956 601304 OMIM gene: NON-HISTONE CHROMOSOME PROTEIN 2, S. CEREVISIAE, HOMOLOG-LIKE 1; NHP2L1 Gene map locus 12q24.3 (link from Ensembl BioMart) ENSP00000215956 601876 OMIM phenotype: SPERM-SPECIFIC ANTIGEN 1; SSFA1 (link from Ensembl BioMart) ENSP00000215960 604414 OMIM gene: POLYMERASE II, RNA, SUBUNIT F; POLR2F Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000216019 608469 OMIM gene: DEAD/H BOX 17; DDX17 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000216024 602721 OMIM gene: DISRUPTED MEIOTIC cDNA 1, YEAST, HOMOLOG OF; DMC1 (link from Ensembl BioMart) ENSP00000216027 608142 OMIM gene: HSC20, E. COLI, HOMOLOG OF Gene map locus 22q11-q12 (link from Ensembl BioMart) ENSP00000216029 607757 OMIM gene: CHIBBY; CBY Gene map locus 22q12-q13 (link from Ensembl BioMart) ENSP00000216034 607046 OMIM gene: TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF; TOMM22 Gene map locus 22q12-q13 (link from Ensembl BioMart) ENSP00000216036 605663 OMIM gene: RHABDOID TUMOR DELETION REGION GENE 1; RTDR1 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000216037 194355 OMIM gene: X BOX-BINDING PROTEIN 1; XBP1 Gene map locus 22q12 (link from Ensembl BioMart) ENSP00000216044 602245 OMIM gene: GTP-BINDING PROTEIN 1; GTPBP1 Gene map locus 22q12-q13.1 (link from Ensembl BioMart) ENSP00000216075 606774 OMIM gene: ALDEHYDE REDUCTASE-LIKE 6; ALDRL6 (link from Ensembl BioMart) ENSP00000216101 602220 OMIM gene: RAS-RELATED ON CHROMOSOME 22 Gene map locus 22q12 (link from Ensembl BioMart) ENSP00000216106 604702 OMIM gene: HIGH MOBILITY GROUP PROTEIN 2-LIKE 1; HMG2L1 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000216115 603392 OMIM gene: BCL2-INTERACTING KILLER; BIK Gene map locus 22q13.3 (link from Ensembl BioMart) ENSP00000216117 141250 OMIM gene: HEME OXYGENASE 1; HMOX1 HEME OXYGENASE 1 DEFICIENCY, INCLUDED Gene map locus 22q12 (link from Ensembl BioMart) ENSP00000216121 603249 OMIM gene: NIPSNAP, C. ELEGANS, HOMOLOG OF, 1; NIPSNAP1 Gene map locus 22q12 (link from Ensembl BioMart) ENSP00000216122 602696 OMIM gene: MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 5; MCM5 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000216124 250100 OMIM phenotype: METACHROMATIC LEUKODYSTROPHY PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED Gene map locus 22q13.31-qter (link from Ensembl BioMart) ENSP00000216124 272200 OMIM phenotype: MULTIPLE SULFATASE DEFICIENCY; MSD Gene map locus 3p26 (link from Ensembl BioMart) ENSP00000216124 607574 OMIM gene: ARYLSULFATASE A; ARSA Gene map locus 22q13.31-qter (link from Ensembl BioMart) ENSP00000216133 608457 OMIM gene: CHROMOBOX HOMOLOG 7; CBX7 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000216139 102480 OMIM gene: ACROSIN; ACR PROACROSIN, INCLUDED Gene map locus 22q13.3 (link from Ensembl BioMart) ENSP00000216155 603925 OMIM gene: SYNAPTOGYRIN 1; SYNGR1 Gene map locus 22q13 (link from Ensembl BioMart) ENSP00000216160 602615 OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN 1; MAP3K7IP1 Gene map locus Chr.22 (link from Ensembl BioMart) ENSP00000216178 603743 OMIM gene: APOLIPOPROTEIN L-I; APOL1 Gene map locus 22q12.3 (link from Ensembl BioMart) ENSP00000216180 609567 OMIM gene: ADIPONUTRIN; ADPN (link from Ensembl BioMart) ENSP00000216181 153640 OMIM phenotype: FECHTNER SYNDROME; FTNS Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000216181 153650 OMIM phenotype: EPSTEIN SYNDROME ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, INCLUDED; APSM, INCLUDED Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000216181 155100 OMIM phenotype: MAY-HEGGLIN ANOMALY; MHA Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000216181 160775 OMIM gene: MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000216181 603622 OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17 COCHLEOSACCULAR DEGENERATION, INCLUDED Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000216181 605249 OMIM phenotype: SEBASTIAN SYNDROME; SBS Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000216185 609063 OMIM gene: THIOREDOXIN 2; TXN2 (link from Ensembl BioMart) ENSP00000216190 603915 OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 7; EIF3S7 (link from Ensembl BioMart) ENSP00000216194 103050 OMIM phenotype: ADENYLOSUCCINASE DEFICIENCY Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000216194 608222 OMIM gene: ADENYLOSUCCINATE LYASE; ADSL Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000216200 168890 OMIM gene: PARVALBUMIN; PVALB Gene map locus 22q12-q13.1 (link from Ensembl BioMart) ENSP00000216218 606796 OMIM gene: SUPPRESSION OF TUMORIGENICITY 13; ST13 Gene map locus 22q13 (link from Ensembl BioMart) ENSP00000216223 146710 OMIM gene: INTERLEUKIN 2 RECEPTOR, BETA; IL2RB Gene map locus 22q11.2-q13 (link from Ensembl BioMart) ENSP00000216225 603814 OMIM gene: RING-BOX 1; RBX1 (link from Ensembl BioMart) ENSP00000216254 100850 OMIM gene: ACONITASE, MITOCHONDRIAL; ACO2 Gene map locus 22q11.21-q13.31 (link from Ensembl BioMart) ENSP00000216259 601786 OMIM gene: PHOSPHOMANNOMUTASE 1; PMM1 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000216267 604589 OMIM gene: BROMODOMAIN-CONTAINING PROTEIN 1; BRD1 Gene map locus 22q13 (link from Ensembl BioMart) ENSP00000216271 608544 OMIM gene: HISTONE DEACETYLASE 10; HDAC10 (link from Ensembl BioMart) ENSP00000216274 605817 OMIM gene: RECEPTOR-INTERACTING SERINE/THREONINE KINASE 3; RIPK3 Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000216277 605553 OMIM gene: POLY(A) POLYMERASE, ALPHA; PAPOLA Gene map locus 14q32.1-q32.2 (link from Ensembl BioMart) ENSP00000216279 603544 OMIM gene: CYCLIN K; CCNK Gene map locus 14q32 (link from Ensembl BioMart) ENSP00000216281 140571 OMIM gene: HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA Gene map locus 1q21.2-q22 (link from Ensembl BioMart) ENSP00000216281 140575 OMIM gene: HEAT-SHOCK 90-KD PROTEIN 1, ALPHA-LIKE 3; HSPCAL3 Gene map locus 11p14.2-p14.1 (link from Ensembl BioMart) ENSP00000216286 605399 OMIM gene: NIDOGEN 2; NID2 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000216288 602678 OMIM gene: MAP/MICROTUBULE AFFINITY-REGULATING KINASE 3; MARK3 Gene map locus 14q32.3 (link from Ensembl BioMart) ENSP00000216294 600591 OMIM gene: SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 1; SNAPC1 (link from Ensembl BioMart) ENSP00000216297 605012 OMIM gene: SUPPRESSOR OF TY 16, S. CEREVISIAE, HOMOLOG OF; SUPT16H (link from Ensembl BioMart) ENSP00000216330 186947 OMIM gene: FK506-BINDING PROTEIN 3; FKBP3 (link from Ensembl BioMart) ENSP00000216336 116830 OMIM gene: CATHEPSIN G; CTSG Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000216338 116831 OMIM gene: GRANZYME H; GZMH Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000216341 123910 OMIM gene: GRANZYME B; GZMB Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000216361 156000 OMIM phenotype: MENIERE DISEASE Gene map locus 14q12-q13 (link from Ensembl BioMart) ENSP00000216361 601369 OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9 Gene map locus 14q12-q13 (link from Ensembl BioMart) ENSP00000216361 603196 OMIM gene: COCHLIN; COCH Gene map locus 14q12-q13 (link from Ensembl BioMart) ENSP00000216366 607243 OMIM gene: ADAPTOR-RELATED PROTEIN COMPLEX 4, SIGMA-1 SUBUNIT; AP4S1 (link from Ensembl BioMart) ENSP00000216367 602670 OMIM gene: POLYMERASE, DNA, EPSILON-2; POLE2 Gene map locus 14q13-q21 (link from Ensembl BioMart) ENSP00000216373 601247 OMIM gene: SON OF SEVENLESS, DROSOPHILA, HOMOLOG 2; SOS2 Gene map locus 14q21 (link from Ensembl BioMart) ENSP00000216378 603441 OMIM gene: CYCLIN-DEPENDENT KINASE-LIKE 1; CDKL1 (link from Ensembl BioMart) ENSP00000216392 232700 OMIM gene: GLYCOGEN STORAGE DISEASE VI GLYCOGEN PHOSPHORYLASE, LIVER, INCLUDED; PYGL, INCLUDED Gene map locus 14q21-q22 (link from Ensembl BioMart) ENSP00000216407 602708 OMIM gene: PROTEASOME 26S SUBUNIT, ATPase, 6; PSMC6 Gene map locus 12q15 (link from Ensembl BioMart) ENSP00000216420 606138 OMIM gene: CELL GROWTH REGULATORY GENE 19 (link from Ensembl BioMart) ENSP00000216442 609398 OMIM gene: ATPase, H+ TRANSPORTING, LYSOSOMAL, 34-KD, V1 SUBUNIT D; ATP6V1D (link from Ensembl BioMart) ENSP00000216446 608007 OMIM gene: PLECKSTRIN 2; PLEK2 (link from Ensembl BioMart) ENSP00000216452 600154 OMIM gene: PHOSPHATIDYLINOSITOL GLYCAN, CLASS H; PIGH Gene map locus 14q11-q24 (link from Ensembl BioMart) ENSP00000216455 176843 OMIM gene: PROTEASOME SUBUNIT, ALPHA-TYPE, 3; PSMA3 Gene map locus 14q23 (link from Ensembl BioMart) ENSP00000216455 176845 OMIM gene: PROTEASOME COMPONENT 8; PSC8 (link from Ensembl BioMart) ENSP00000216456 603207 OMIM gene: VTI1, S. CEREVISIAE, HOMOLOG OF, B; VTI1B (link from Ensembl BioMart) ENSP00000216463 607384 OMIM gene: TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 9, YEAST, HOMOLOG OF; TIMM9 Gene map locus 14q21 (link from Ensembl BioMart) ENSP00000216465 603758 OMIM gene: GLUTATHIONE S-TRANSFERASE, ZETA-1; GSTZ1 Gene map locus 14q24.3 (link from Ensembl BioMart) ENSP00000216479 608466 OMIM gene: ACTIVATOR OF HEAT-SHOCK 90-KD PROTEIN ATPase 1; AHSA1 (link from Ensembl BioMart) ENSP00000216484 605713 OMIM gene: SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 2; SPTLC2 (link from Ensembl BioMart) ENSP00000216489 605345 OMIM gene: AlkB, E. COLI, HOMOLOG OF Gene map locus 14q24 (link from Ensembl BioMart) ENSP00000216492 118910 OMIM gene: CHROMOGRANIN A; CHGA PARATHYROID SECRETORY PROTEIN, INCLUDED; PSP, INCLUDED Gene map locus 14q32 (link from Ensembl BioMart) ENSP00000216513 606342 OMIM gene: SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 4; SIX4 Gene map locus 14q23 (link from Ensembl BioMart) ENSP00000216520 601191 OMIM gene: ENHANCER OF RUDIMENTARY, DROSOPHILA, HOMOLOG OF; ERH Gene map locus 7q34 (link from Ensembl BioMart) ENSP00000216538 600914 OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5 (link from Ensembl BioMart) ENSP00000216540 182396 OMIM gene: SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 1; SLC10A1 Gene map locus 14q24.1 (link from Ensembl BioMart) ENSP00000216554 601710 OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 5; EIF5 (link from Ensembl BioMart) ENSP00000216568 607991 OMIM gene: SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 3; SLC8A3 (link from Ensembl BioMart) ENSP00000216605 172460 OMIM gene: METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1 METHYLTETRAHYDROFOLATE CYCLOHYDROLASE DEFICIENCY, INCLUDED Gene map locus 14q24 (link from Ensembl BioMart) ENSP00000216612 186960 OMIM gene: T-CELL LEUKEMIA/LYMPHOMA 1A; TCL1A Gene map locus 14q32.1 (link from Ensembl BioMart) ENSP00000216629 600337 OMIM gene: BRADYKININ RECEPTOR B1; BDKRB1 Gene map locus 14q32.1-q32.2 (link from Ensembl BioMart) ENSP00000216639 602168 OMIM gene: VACCINIA-RELATED KINASE 1; VRK1 Gene map locus 14q32 (link from Ensembl BioMart) ENSP00000216714 107748 OMIM gene: APEX NUCLEASE; APEX Gene map locus 14q12 (link from Ensembl BioMart) ENSP00000216727 164300 OMIM phenotype: OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD Gene map locus 14q11.2-q13 (link from Ensembl BioMart) ENSP00000216727 602279 OMIM gene: POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1 Gene map locus 14q11.2-q13 (link from Ensembl BioMart) ENSP00000216733 609906 OMIM gene: EMBRYONAL FYN-ASSOCIATED SUBSTRATE; EFS Gene map locus 14q11.2-q12 (link from Ensembl BioMart) ENSP00000216743 602680 OMIM gene: GTPase-ACTIVATING PROTEIN, RHO, 5; ARHGAP5 (link from Ensembl BioMart) ENSP00000216774 604857 OMIM gene: SIGNAL RECOGNITION PARTICLE, 54-KD; SRP54 (link from Ensembl BioMart) ENSP00000216775 605688 OMIM gene: COPINE VI; CPNE6 Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000216780 261650 OMIM gene: PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL, INCLUDED (link from Ensembl BioMart) ENSP00000216797 164008 OMIM gene: NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, ALPHA; NFKBIA ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT, INCLUDED Gene map locus 14q13 (link from Ensembl BioMart) ENSP00000216802 602161 OMIM gene: PROTEASOME ACTIVATOR SUBUNIT 2; PSME2 Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000216832 603154 OMIM gene: PININ; PNN Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000216840 601905 OMIM gene: RAB GERANYLGERANYL TRANSFERASE, ALPHA SUBUNIT; RABGGTA Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000216862 126065 OMIM gene: CYTOCHROME P450, FAMILY 24, SUBFAMILY A, POLYPEPTIDE 1; CYP24A1 Gene map locus 20q13.2-q13.3 (link from Ensembl BioMart) ENSP00000216863 606472 OMIM gene: SS18-LIKE GENE 1; SS18L1 (link from Ensembl BioMart) ENSP00000216877 176884 OMIM gene: PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ALPHA; PTPRA Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000216879 606610 OMIM gene: p47, RAT, HOMOLOG OF Gene map locus 20p (link from Ensembl BioMart) ENSP00000216910 605114 OMIM gene: SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11 Gene map locus 20q13.2-q13.3 (link from Ensembl BioMart) ENSP00000216911 602687 OMIM gene: SERINE/THREONINE PROTEIN KINASE 6; STK6 Gene map locus 20q13.2-q13.3 (link from Ensembl BioMart) ENSP00000216911 603072 OMIM gene: AURORA KINASE A; AURKA (link from Ensembl BioMart) ENSP00000216927 605466 OMIM gene: SIGNAL REGULATORY PROTEIN, GAMMA; SIRPG Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000216934 600238 OMIM gene: TRANSGLUTAMINASE 3; TGM3 Gene map locus 20q12 (link from Ensembl BioMart) ENSP00000216947 172425 OMIM gene: PHOSPHOLIPID TRANSFER PROTEIN; PLTP Gene map locus 20q12-q13.1 (link from Ensembl BioMart) ENSP00000216951 231900 OMIM phenotype: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000216951 266130 OMIM phenotype: GLUTATHIONE SYNTHETASE DEFICIENCY Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000216951 601002 OMIM gene: GLUTATHIONE SYNTHETASE; GSS Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000216953 120361 OMIM gene: MATRIX METALLOPROTEINASE 9; MMP9 Gene map locus 20q11.2-q13.1 (link from Ensembl BioMart) ENSP00000216955 122000 OMIM phenotype: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1 Gene map locus 20p11.2, 1p34.3-p32.3 (link from Ensembl BioMart) ENSP00000216955 148300 OMIM phenotype: KERATOCONUS 1; KTCN1 Gene map locus 20p11.2 (link from Ensembl BioMart) ENSP00000216955 605020 OMIM gene: VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1 CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL CHANGES, AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS, INCLUDED Gene map locus 20p11.2 (link from Ensembl BioMart) ENSP00000216962 138550 OMIM gene: GLYCOGEN PHOSPHORYLASE, BRAIN TYPE; PYGB Gene map locus 20p11.2-p11.1 (link from Ensembl BioMart) ENSP00000216968 600646 OMIM gene: PROTEIN C RECEPTOR; PROCR Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000217026 601415 OMIM gene: V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG-LIKE 2; MYBL2 Gene map locus 20q13.1 (link from Ensembl BioMart) ENSP00000217069 601289 OMIM gene: TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, BETA ISOFORM; YWHAB Gene map locus 20q13.1 (link from Ensembl BioMart) ENSP00000217086 607323 OMIM phenotype: DUANE-RADIAL RAY SYNDROME; DRRS Gene map locus 20q13.13-q13.2 (link from Ensembl BioMart) ENSP00000217086 607343 OMIM gene: SAL-LIKE 4; SALL4 Gene map locus 20q13.13-q13.2 (link from Ensembl BioMart) ENSP00000217103 604898 OMIM gene: PREFOLDIN 4; PFDN4 (link from Ensembl BioMart) ENSP00000217109 600369 OMIM gene: CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 1, 50-KD; CSTF1 (link from Ensembl BioMart) ENSP00000217117 603343 OMIM gene: RNA EXPORT 1, S. POMBE, HOMOLOG OF; RAE1 (link from Ensembl BioMart) ENSP00000217121 603747 OMIM gene: TUMOR PROTEIN D52-LIKE 2; TPD52L2 Gene map locus 20q13.2-q13.3 (link from Ensembl BioMart) ENSP00000217129 605297 OMIM gene: TH1-LIKE; TH1L Gene map locus 20q13 (link from Ensembl BioMart) ENSP00000217131 603169 OMIM gene: CATHEPSIN Z; CTSZ Gene map locus 20q13 (link from Ensembl BioMart) ENSP00000217153 606607 OMIM gene: PROTEASOME SUBUNIT, ALPHA-TYPE, 7; PSMA7 Gene map locus Chr.20 (link from Ensembl BioMart) ENSP00000217169 605737 OMIM gene: BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 7; BIRC7 Gene map locus 20q13.3 (link from Ensembl BioMart) ENSP00000217171 608377 OMIM gene: ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 1; ARFGAP1 Gene map locus 20q13.33 (link from Ensembl BioMart) ENSP00000217172 125700 OMIM phenotype: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000217172 192340 OMIM gene: ARGININE VASOPRESSIN; AVP NEUROPHYSIN II, INCLUDED; NPII, INCLUDED Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000217176 118504 OMIM gene: CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4 Gene map locus 20q13.2-q13.3 (link from Ensembl BioMart) ENSP00000217176 600513 OMIM phenotype: EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 Gene map locus 20q13.2-q13.3 (link from Ensembl BioMart) ENSP00000217182 602959 OMIM gene: EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-2; EEF1A2 Gene map locus 20q13 (link from Ensembl BioMart) ENSP00000217185 602004 OMIM gene: PROTEIN-TYROSINE KINASE 6; PTK6 (link from Ensembl BioMart) ENSP00000217233 607898 OMIM gene: TRIBBLES, DROSOPHILA, HOMOLOG OF, 3; TRIB3 (link from Ensembl BioMart) ENSP00000217243 609492 OMIM gene: RAS ASSOCIATION DOMAIN FAMILY PROTEIN 2; RASSF2 (link from Ensembl BioMart) ENSP00000217244 115440 OMIM gene: CASEIN KINASE II, ALPHA-1; CSNK2A1 Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000217268 603549 OMIM gene: CDP-DIACYLGLYCEROL SYNTHASE 2; CDS2 Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000217270 607123 OMIM gene: G PROTEIN-COUPLED RECEPTOR 73-LIKE 1; GPR73L1 (link from Ensembl BioMart) ENSP00000217276 604942 OMIM gene: SYNTAPHILIN (link from Ensembl BioMart) ENSP00000217284 192600 OMIM phenotype: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1, INCLUDED; CMH1, INCLUDED Gene map locus 20q13.3, 15q14, 14q12, 14q12, 3p21.3-p14.3, 3p25 (link from Ensembl BioMart) ENSP00000217284 606566 OMIM gene: MYOSIN LIGHT CHAIN KINASE 2; MYLK2 Gene map locus 20q13.3 (link from Ensembl BioMart) ENSP00000217289 173650 OMIM phenotype: KINDLER SYNDROME Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000217289 607900 OMIM gene: KINDLIN 1 Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000217301 605023 OMIM gene: HYDROXYACID OXIDASE 1; HAO1 Gene map locus 20p12 (link from Ensembl BioMart) ENSP00000217305 131340 OMIM gene: PRODYNORPHIN; PDYN Gene map locus 20pter-p12.2 (link from Ensembl BioMart) ENSP00000217313 609905 OMIM gene: MYOSIN LIGHT CHAIN 9, REGULATORY; MYL9 Gene map locus 20q11.23 (link from Ensembl BioMart) ENSP00000217326 607491 OMIM gene: PROTEIN O-FUCOSYLTRANSFERASE 1; POFUT1 (link from Ensembl BioMart) ENSP00000217347 603108 OMIM gene: MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 1; MAPRE1 Gene map locus 20q11.1-q11.23 (link from Ensembl BioMart) ENSP00000217372 608200 OMIM gene: CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1; CDK5RAP1 Gene map locus Chr.20 (link from Ensembl BioMart) ENSP00000217381 601017 OMIM gene: SYNTROPHIN, ALPHA-1; SNTA1 Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000217386 167050 OMIM gene: OXYTOCIN; OXT NEUROPHYSIN I, INCLUDED Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000217407 151990 OMIM gene: LIPOPOLYSACCHARIDE-BINDING PROTEIN; LBP Gene map locus 20q11.23-q12 (link from Ensembl BioMart) ENSP00000217421 105150 OMIM phenotype: AMYLOIDOSIS VI Gene map locus 20p11.2 (link from Ensembl BioMart) ENSP00000217421 604312 OMIM gene: CYSTATIN 3; CST3 Gene map locus 20p11.2 (link from Ensembl BioMart) ENSP00000217422 600201 OMIM gene: AGOUTI SIGNALING PROTEIN; ASIP Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000217423 123857 OMIM gene: CYSTATIN 4; CST4 Gene map locus 20p11.2 (link from Ensembl BioMart) ENSP00000217426 180960 OMIM gene: S-ADENOSYLHOMOCYSTEINE HYDROLASE; AHCY HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, INCLUDED Gene map locus 20cen-q13.1 (link from Ensembl BioMart) ENSP00000217430 609031 OMIM gene: SERINE PROTEASE INHIBITOR-LIKE PROTEIN WITH KUNITZ AND WAP DOMAINS 1; SPINLW1 (link from Ensembl BioMart) ENSP00000217446 608528 OMIM gene: CELL DIVISION CYCLE 91, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC91L1 Gene map locus 20q11.22 (link from Ensembl BioMart) ENSP00000217452 191039 OMIM gene: TROPONIN C, FAST; TNNC2 Gene map locus 20q12-q13.11 (link from Ensembl BioMart) ENSP00000217455 608123 OMIM gene: ACYL-CoA THIOESTERASE 8; ACOT8 Gene map locus 20q13.1 (link from Ensembl BioMart) ENSP00000217515 603049 OMIM gene: THIOREDOXIN-LIKE; TXNL (link from Ensembl BioMart) ENSP00000217602 605703 OMIM gene: VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN A; VAPA Gene map locus Chr.18 (link from Ensembl BioMart) ENSP00000217652 609211 OMIM gene: MYOSIN REGULATORY LIGHT CHAIN 2 (link from Ensembl BioMart) ENSP00000217800 605252 OMIM gene: POLYMERASE, DNA, IOTA; POLI Gene map locus 18q21.1 (link from Ensembl BioMart) ENSP00000217884 300225 OMIM gene: NADPH OXIDASE 1; NOX1 NOH1, LONG ISOFORM, INCLUDED; NOH1L, INCLUDED Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000217885 300225 OMIM gene: NADPH OXIDASE 1; NOX1 NOH1, LONG ISOFORM, INCLUDED; NOH1L, INCLUDED Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000217890 300002 OMIM gene: ARYLSULFATASE D; ARSD Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000217893 600822 OMIM gene: TAF9 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 32-KD; TAF9 Gene map locus 5q11.2-q13.1 (link from Ensembl BioMart) ENSP00000217901 300089 OMIM gene: ISOCITRATE DEHYDROGENASE 3, GAMMA SUBUNIT; IDH3G Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000217905 300044 OMIM gene: TRANSKETOLASE-LIKE 1; TKTL1 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000217908 300163 OMIM gene: FOUR-AND-A-HALF LIM DOMAINS 1; FHL1 Gene map locus Xq27.2 (link from Ensembl BioMart) ENSP00000217958 603480 OMIM gene: PROTEASOME 26S SUBUNIT, NON-ATPase, 10; PSMD10 (link from Ensembl BioMart) ENSP00000217961 308100 OMIM gene: ICHTHYOSIS, X-LINKED ARYLSULFATASE C, ISOZYME S, INCLUDED; ARSC1, INCLUDED Gene map locus Xp22.32 (link from Ensembl BioMart) ENSP00000217964 300196 OMIM gene: TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000217965 300500 OMIM gene: ALBINISM, OCULAR, TYPE I; OA1 OCULAR ALBINISM 1 GENE, INCLUDED; OA1 GENE, INCLUDED Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000217971 300435 OMIM gene: PROGESTERONE RECEPTOR MEMBRANE COMPONENT 1; PGRMC1 Gene map locus Xq22-q24 (link from Ensembl BioMart) ENSP00000217999 300446 OMIM gene: OVARY-, TESTIS-, AND EPIDIDYMIS-EXPRESSED GENE Gene map locus Xq24 (link from Ensembl BioMart) ENSP00000218004 300320 OMIM gene: NTF2-LIKE EXPORT FACTOR 2; NXT2 Gene map locus Xq23 (link from Ensembl BioMart) ENSP00000218006 300041 OMIM gene: GUANYLYL CYCLASE 2F, RETINAL; GUCY2F Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000218027 311860 OMIM gene: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE II; PRPS2 Gene map locus Xp22.3-p22.2 (link from Ensembl BioMart) ENSP00000218032 300366 OMIM gene: TOLL-LIKE RECEPTOR 8; TLR8 (link from Ensembl BioMart) ENSP00000218054 300350 OMIM gene: VENTROPTIN Gene map locus Xq22.1-q23 (link from Ensembl BioMart) ENSP00000218056 300512 OMIM gene: WD REPEAT-CONTAINING PROTEIN 13; WDR13 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218068 300287 OMIM gene: G ANTIGEN, FAMILY C, 1; GAGEC1 PROSTATE-ASSOCIATED GENE 1, FORMERLY; PAGE1, FORMERLY Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218072 300187 OMIM gene: SUSHI REPEAT-CONTAINING PROTEIN, X CHROMOSOME; SRPX Gene map locus Xp21.1 (link from Ensembl BioMart) ENSP00000218075 305990 OMIM gene: GLYCINE RECEPTOR, ALPHA-2 SUBUNIT; GLRA2 Gene map locus Xp22.1-p21.2 (link from Ensembl BioMart) ENSP00000218099 306900 OMIM gene: HEMOPHILIA B; HEMB COAGULATION FACTOR IX, INCLUDED; F9, INCLUDED Gene map locus Xq27.1-q27.2 (link from Ensembl BioMart) ENSP00000218104 300100 OMIM phenotype: ADRENOLEUKODYSTROPHY; ALD Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218104 300371 OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218104 300475 OMIM phenotype: CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (link from Ensembl BioMart) ENSP00000218126 300112 OMIM gene: PROTEOLIPID PROTEIN 2; PLP2 Gene map locus Xp11.23-p11.22 (link from Ensembl BioMart) ENSP00000218149 300013 OMIM gene: N-ACETYLTRANSFERASE ARD1, S. CEREVISIAE, HOMOLOG OF; DXS707 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218151 312420 OMIM gene: RENIN-BINDING PROTEIN; RENBP Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218157 300012 OMIM gene: SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 1; SMARCA1 Gene map locus Xq26.1 (link from Ensembl BioMart) ENSP00000218176 300281 OMIM gene: POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 1; KCND1 (link from Ensembl BioMart) ENSP00000218195 303900 OMIM gene: COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP OPSIN1, LONG-WAVE-SENSITIVE, INCLUDED; OPN1LW, INCLUDED Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218197 300242 OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, BRAIN), MEMBER 14; SLC25A14 Gene map locus Xq24 (link from Ensembl BioMart) ENSP00000218217 300295 OMIM gene: ONCOGENE PIM2; PIM2 Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000218224 300463 OMIM gene: POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218224 309500 OMIM phenotype: RENPENNING SYNDROME 1; RENS1 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218225 312700 OMIM gene: RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1 RETINOSCHISIS 1 GENE, INCLUDED; RS1 GENE, INCLUDED Gene map locus Xp22.2-p22.1 (link from Ensembl BioMart) ENSP00000218230 300399 OMIM gene: PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1, INHIBITOR OF: PCSK1N Gene map locus Xp11.3 (link from Ensembl BioMart) ENSP00000218240 300384 OMIM gene: EMERIN; EMD STA, INCLUDED Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218240 310300 OMIM phenotype: EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218246 300394 OMIM gene: TAFAZZIN; TAZ Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218265 311800 OMIM gene: PHOSPHOGLYCERATE KINASE 1; PGK1 PHOSPHOGLYCERATE KINASE 1 PSEUDOGENE 1, INCLUDED; PGK1P1, INCLUDED Gene map locus Xq13 (link from Ensembl BioMart) ENSP00000218266 300367 OMIM phenotype: DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA MACROTHROMBOCYTOPENIA, X-LINKED, INCLUDED Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218266 305371 OMIM gene: GATA-BINDING PROTEIN 1; GATA1 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218299 312070 OMIM gene: UBIQUITIN-LIKE 4; UBL4 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218316 300207 OMIM gene: G PROTEIN-COUPLED RECEPTOR 50; GPR50 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218340 312600 OMIM gene: RETINITIS PIGMENTOSA 2, X-LINKED; RP2 RP2 GENE, INCLUDED; RP2, INCLUDED Gene map locus Xp11.3 (link from Ensembl BioMart) ENSP00000218348 300050 OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 11; USP11 Gene map locus Xp21.2-p11.2 (link from Ensembl BioMart) ENSP00000218362 300107 OMIM gene: BOMBESIN-LIKE RECEPTOR 3; BRS3 Gene map locus Xq26-q28 (link from Ensembl BioMart) ENSP00000218364 300346 OMIM gene: HIV-1 TAT STIMULATORY FACTOR 1; HTATSF1 (link from Ensembl BioMart) ENSP00000218368 300386 OMIM gene: CD40 LIGAND; CD40LG Gene map locus Xq26 (link from Ensembl BioMart) ENSP00000218368 308230 OMIM phenotype: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 Gene map locus Xq26 (link from Ensembl BioMart) ENSP00000218388 305370 OMIM gene: TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1 Gene map locus Xp11.3-p11.23 (link from Ensembl BioMart) ENSP00000218394 300348 OMIM gene: KELCH-LIKE 4; KLHL4 (link from Ensembl BioMart) ENSP00000218413 300246 OMIM gene: PROTOCADHERIN 11, X-LINKED; PCDH11X Gene map locus Xq21.3 (link from Ensembl BioMart) ENSP00000218425 305400 OMIM gene: FACIOGENITAL DYSPLASIA FGD1 GENE, INCLUDED; FGD1, INCLUDED Gene map locus Xp11.21 (link from Ensembl BioMart) ENSP00000218432 300252 OMIM gene: PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 4; PIN4 Gene map locus Xq13 (link from Ensembl BioMart) ENSP00000218439 300470 OMIM gene: MELANOMA ANTIGEN, FAMILY D, 2; MAGED2 Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000218440 300027 OMIM gene: RNA-BINDING MOTIF PROTEIN 3; RBM3 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218506 300576 OMIM gene: ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 15; ZDHHC15 Gene map locus Xq13.3 (link from Ensembl BioMart) ENSP00000218507 300065 OMIM gene: FSH PRIMARY RESPONSE, RAT, HOMOLOG OF, 1; FSHPRH1 Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000218510 300314 OMIM gene: TAF7-LIKE RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 50-KD; TAF7L Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000218516 301500 OMIM gene: FABRY DISEASE GALACTOSIDASE, ALPHA, INCLUDED; GLA, INCLUDED Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000218537 603101 OMIM gene: CARBOXYPEPTIDASE B2, PLASMA; CPB2 Gene map locus 13q14.11 (link from Ensembl BioMart) ENSP00000218564 191275 OMIM gene: DOPACHROME TAUTOMERASE; DCT Gene map locus 13q31-q32 (link from Ensembl BioMart) ENSP00000218567 604354 OMIM gene: NUCLEAR FRAGILE X MENTAL RETARDATION PROTEIN-INTERACTING PROTEIN 1; NUFIP1 Gene map locus 13q14 (link from Ensembl BioMart) ENSP00000218706 603969 OMIM gene: TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B Gene map locus 13q32-q34 (link from Ensembl BioMart) ENSP00000218721 602885 OMIM gene: G PROTEIN-COUPLED RECEPTOR 38; GPR38 (link from Ensembl BioMart) ENSP00000218736 602903 OMIM gene: KRUPPEL-LIKE FACTOR 5; KLF5 (link from Ensembl BioMart) ENSP00000218758 171640 OMIM gene: PHOSPHATASE, ACID, TYPE 5, TARTRATE-RESISTANT; ACP5 Gene map locus 19p13.3-p13.1 (link from Ensembl BioMart) ENSP00000218763 601184 OMIM gene: DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 3; DNAJC3 Gene map locus 13q32 (link from Ensembl BioMart) ENSP00000218862 600921 OMIM gene: FIBROBLAST GROWTH FACTOR 9; FGF9 Gene map locus 13q11-q12 (link from Ensembl BioMart) ENSP00000218867 253700 OMIM phenotype: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C Gene map locus 13q12 (link from Ensembl BioMart) ENSP00000218867 608896 OMIM gene: SARCOGLYCAN, GAMMA; SGCG Gene map locus 13q12 (link from Ensembl BioMart) ENSP00000218883 607519 OMIM gene: POLY(ADP-RIBOSE) POLYMERASE 4; PARP4 (link from Ensembl BioMart) ENSP00000218990 256731 OMIM phenotype: CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED Gene map locus 13q21.1-q32 (link from Ensembl BioMart) ENSP00000218990 608102 OMIM gene: CLN5 GENE; CLN5 Gene map locus 13q21.1-q32 (link from Ensembl BioMart) ENSP00000219066 602656 OMIM gene: ENDONUCLEASE III-LIKE 1; NTHL1 Gene map locus 16p13.3-p13.2 (link from Ensembl BioMart) ENSP00000219069 604191 OMIM gene: ZINC FINGER PROTEIN 263; ZNF263 (link from Ensembl BioMart) ENSP00000219070 120360 OMIM gene: MATRIX METALLOPROTEINASE 2; MMP2 Gene map locus 16q13 (link from Ensembl BioMart) ENSP00000219091 603436 OMIM gene: ZINC FINGER PROTEIN 205; ZNF205 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000219097 607213 OMIM gene: ORIGIN RECOGNITION COMPLEX, SUBUNIT 6, S. CEREVISIAE, HOMOLOG OF; ORC6L Gene map locus 16q12 (link from Ensembl BioMart) ENSP00000219142 603500 OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN; TRADD Gene map locus 16q22 (link from Ensembl BioMart) ENSP00000219150 605000 OMIM gene: CORONIN 1A; CORO1A (link from Ensembl BioMart) ENSP00000219162 606206 OMIM gene: METALLOTHIONEIN 4; MT4 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000219169 605813 OMIM gene: NUCLEAR TRANSPORT FACTOR 2 (link from Ensembl BioMart) ENSP00000219197 600432 OMIM gene: CEREBELLIN 1 PRECURSOR; CBLN1 (link from Ensembl BioMart) ENSP00000219207 600340 OMIM gene: TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 11; TM4SF11 Gene map locus 16q13 (link from Ensembl BioMart) ENSP00000219235 602957 OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 22; CCL22 Gene map locus 16q13 (link from Ensembl BioMart) ENSP00000219240 126064 OMIM gene: DIHYDROOROTATE DEHYDROGENASE; DHODH (link from Ensembl BioMart) ENSP00000219244 601520 OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 17; CCL17 Gene map locus 16q13 (link from Ensembl BioMart) ENSP00000219251 609377 OMIM gene: ACD, MOUSE, HOMOLOG OF; ACD Gene map locus 16q22.1 (link from Ensembl BioMart) ENSP00000219252 180663 OMIM gene: POLYMERASE II, RNA, SUBUNIT C; POLR2C Gene map locus 16q13-q21 (link from Ensembl BioMart) ENSP00000219255 607484 OMIM gene: PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A (link from Ensembl BioMart) ENSP00000219271 602261 OMIM gene: MATRIX METALLOPROTEINASE 15; MMP15 Gene map locus 16q13-q21 (link from Ensembl BioMart) ENSP00000219302 601817 OMIM gene: NONMETASTATIC CELLS 3, PROTEIN EXPRESSED IN; NME3 (link from Ensembl BioMart) ENSP00000219313 157970 OMIM gene: PROTEASOME 26S SUBUNIT, NON-ATPase, 7; PSMD7 MOLONEY LEUKEMIA VIRUS 34 PROVIRAL INTEGRATION SITE, MOUSE, HOMOLOG OF, INCLUDED; MOV34, INCLUDED Gene map locus 16q23-q24 (link from Ensembl BioMart) ENSP00000219322 602428 OMIM gene: HYALURONAN SYNTHASE 3; HAS3 Gene map locus 16q22.1 (link from Ensembl BioMart) ENSP00000219334 605777 OMIM gene: SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3 (link from Ensembl BioMart) ENSP00000219343 605641 OMIM gene: SOLUTE CARRIER FAMILY 7, MEMBER 6; SLC7A6 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000219345 609362 OMIM gene: LYSOPHOSPHOLIPASE 3; LYPLA3 Gene map locus 16q22.1 (link from Ensembl BioMart) ENSP00000219406 608012 OMIM gene: PROTEIN DISULFIDE ISOMERASE, PANCREATIC; PDIP (link from Ensembl BioMart) ENSP00000219409 602844 OMIM gene: RHO GDP-DISSOCIATION INHIBITOR GAMMA; ARHGDIG (link from Ensembl BioMart) ENSP00000219431 156565 OMIM gene: N-@METHYLPURINE DNA GLYCOSYLASE; MPG Gene map locus 16pter-p13.3 (link from Ensembl BioMart) ENSP00000219454 605322 OMIM gene: WAP 4-DISULFIDE CORE DOMAIN 1; WFDC1 Gene map locus 16q24.3 (link from Ensembl BioMart) ENSP00000219473 609818 OMIM gene: UBIQUITIN-SPECIFIC PROTEIN 10; USP10 (link from Ensembl BioMart) ENSP00000219476 191092 OMIM gene: TSC2 GENE; TSC2 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000219476 191100 OMIM phenotype: TUBEROUS SCLEROSIS; TS TUBEROUS SCLEROSIS 1, INCLUDED Gene map locus 16p13.3, 12q14, 9q34 (link from Ensembl BioMart) ENSP00000219476 606690 OMIM phenotype: LYMPHANGIOLEIOMYOMATOSIS; LAM LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, INCLUDED Gene map locus 16p13.3, 9q34 (link from Ensembl BioMart) ENSP00000219479 601818 OMIM gene: NONMETASTATIC CELLS 4, PROTEIN EXPRESSED IN; NME4 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000219548 607207 OMIM gene: STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000219551 603264 OMIM gene: RHOMBOID-LIKE 1; RHBDL1 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000219593 182888 OMIM gene: ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2 (link from Ensembl BioMart) ENSP00000219596 249100 OMIM phenotype: FAMILIAL MEDITERRANEAN FEVER; FMF Gene map locus 16p13 (link from Ensembl BioMart) ENSP00000219596 608107 OMIM gene: FAMILIAL MEDITERRANEAN FEVER GENE; MEFV Gene map locus 16p13 (link from Ensembl BioMart) ENSP00000219599 123740 OMIM gene: CRYSTALLIN, MU; CRYM Gene map locus 16p13.11-p12.3 (link from Ensembl BioMart) ENSP00000219611 603267 OMIM gene: SMALL OPTIC LOBES, DROSOPHILA, HOMOLOG OF; SOLH Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000219627 139259 OMIM gene: G1- TO S-PHASE TRANSITION 1; GSPT1 Gene map locus 16p13.1 (link from Ensembl BioMart) ENSP00000219660 603750 OMIM gene: AQUAPORIN 8; AQP8 Gene map locus 16p12-p11.2 (link from Ensembl BioMart) ENSP00000219700 141251 OMIM gene: HEME OXYGENASE 2; HMOX2 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000219771 606248 OMIM gene: QUINOLINATE PHOSPHORIBOSYLTRANSFERASE; QPRT (link from Ensembl BioMart) ENSP00000219789 605893 OMIM gene: CDP-DIACYLGLYCEROL-INOSITOL 3-PHOSPHATIDYLTRANSFERASE; CDIPT (link from Ensembl BioMart) ENSP00000219797 609912 OMIM gene: HISTONE ACETYLTRANSFERASE MYST1; MYST1 Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000219827 609544 OMIM gene: CENTROSOMAL PROTEIN, 110-KD (link from Ensembl BioMart) ENSP00000219865 602712 OMIM gene: AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 2; APBA2 Gene map locus 15q (link from Ensembl BioMart) ENSP00000219869 601740 OMIM gene: MEIS1, MOUSE, HOMOLOG OF, 2; MEIS2 Gene map locus 15q14-q25 (link from Ensembl BioMart) ENSP00000219891 600839 OMIM gene: SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 1; SLC12A1 Gene map locus 15q15-q21.1 (link from Ensembl BioMart) ENSP00000219891 601678 OMIM phenotype: BARTTER SYNDROME, ANTENATAL, TYPE 1 Gene map locus 15q15-q21.1 (link from Ensembl BioMart) ENSP00000219919 602914 OMIM gene: AQUAPORIN 9; AQP9 GLYCEROL RELEASE DURING EXERCISE, DEFECTIVE, INCLUDED Gene map locus 15q22 (link from Ensembl BioMart) ENSP00000220003 124095 OMIM gene: CYTOPLASMIC TYROSINE KINASE; CSK Gene map locus 15q23-q25 (link from Ensembl BioMart) ENSP00000220166 116820 OMIM gene: CATHEPSIN H; CTSH Gene map locus 15q24-q25 (link from Ensembl BioMart) ENSP00000220244 608366 OMIM gene: KIAA1199 Gene map locus 15q24 (link from Ensembl BioMart) ENSP00000220325 605892 OMIM gene: EH DOMAIN-CONTAINING 4; EHD4 Gene map locus 15q11.1 (link from Ensembl BioMart) ENSP00000220419 603805 OMIM gene: TRANSGLUTAMINASE 5; TGM5 Gene map locus 15q15.2 (link from Ensembl BioMart) ENSP00000220420 603805 OMIM gene: TRANSGLUTAMINASE 5; TGM5 Gene map locus 15q15.2 (link from Ensembl BioMart) ENSP00000220429 600610 OMIM gene: GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT; GABPB GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT 1, INCLUDED; GABPB1, INCLUDED Gene map locus 15q21.2 (link from Ensembl BioMart) ENSP00000220446 606266 OMIM gene: BCL2-MODIFYING FACTOR; BMF (link from Ensembl BioMart) ENSP00000220509 608551 OMIM gene: VACUOLAR PROTEIN SORTING 18, YEAST, HOMOLOG OF; VPS18 (link from Ensembl BioMart) ENSP00000220514 606020 OMIM gene: OPA-INTERACTING PROTEIN 5; OIP5 (link from Ensembl BioMart) ENSP00000220531 604310 OMIM gene: PALLIDIN; PLDN Gene map locus 15q15 (link from Ensembl BioMart) ENSP00000220562 605744 OMIM gene: EXOSTOSIN-LIKE 3; EXTL3 Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000220584 184420 OMIM gene: FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1 Gene map locus 8p23.1-p22 (link from Ensembl BioMart) ENSP00000220592 606229 OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2 Gene map locus 8q24 (link from Ensembl BioMart) ENSP00000220597 605767 OMIM gene: PHOSPHOPROTEIN ASSOCIATED WITH GLYCOSPHINGOLIPID-ENRICHED MICRODOMAINS Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000220616 188450 OMIM gene: THYROGLOBULIN; TG GOITER, FAMILIAL, WITH HYPOTHYROIDISM, AUTOSOMAL RECESSIVE, INCLUDED Gene map locus 8q24.2-q24.3 (link from Ensembl BioMart) ENSP00000220659 607013 OMIM gene: BRF2 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR; BRF2 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000220676 180100 OMIM phenotype: RETINITIS PIGMENTOSA 1; RP1 Gene map locus 8q11-q13 (link from Ensembl BioMart) ENSP00000220676 603937 OMIM gene: RETINITIS PIGMENTOSA 1 GENE; RP1 Gene map locus 8q11-q13 (link from Ensembl BioMart) ENSP00000220751 603455 OMIM gene: RECEPTOR-INTERACTING SERINE/THREONINE KINASE 2; RIPK2 (link from Ensembl BioMart) ENSP00000220764 222745 OMIM gene: 2,4-@DIENOYL-CoA REDUCTASE 1; DECR1 2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY, INCLUDED Gene map locus 8q21.3 (link from Ensembl BioMart) ENSP00000220772 604156 OMIM gene: SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1 Gene map locus 8p12-p11.1 (link from Ensembl BioMart) ENSP00000220809 173370 OMIM gene: PLASMINOGEN ACTIVATOR, TISSUE; PLAT PLASMINOGEN ACTIVATOR, TISSUE TYPE, INCREASE IN, INCLUDED Gene map locus 8p12 (link from Ensembl BioMart) ENSP00000220812 605417 OMIM gene: DICKKOPF, XENOPUS, HOMOLOG OF, 4; DKK4 Gene map locus 8p11.2-p11.1 (link from Ensembl BioMart) ENSP00000220822 214400 OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A Gene map locus 8q13-q21.1 (link from Ensembl BioMart) ENSP00000220822 606598 OMIM gene: GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1 Gene map locus 8q13-q21.1 (link from Ensembl BioMart) ENSP00000220822 607706 OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Gene map locus 8q13-q21.1 (link from Ensembl BioMart) ENSP00000220822 607831 OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K, INCLUDED Gene map locus 8q13-q21.1 (link from Ensembl BioMart) ENSP00000220822 608340 OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (link from Ensembl BioMart) ENSP00000220849 602210 OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 6; EIF3S6 MURINE MAMMARY TUMOR VIRUS INTEGRATION SITE 6, INCLUDED Gene map locus 8q22-q23 (link from Ensembl BioMart) ENSP00000220853 607722 OMIM gene: KIAA0103 GENE; KIAA0103 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000220856 603398 OMIM gene: WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 1; WISP1 Gene map locus 8q24.1-q24.3 (link from Ensembl BioMart) ENSP00000220876 600621 OMIM gene: STATHMIN-LIKE 2; STMN2 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000220888 150230 OMIM phenotype: LANGER-GIEDION SYNDROME; LGS LANGER-GIEDION SYNDROME CHROMOSOME REGION, INCLUDED; LGCR, INCLUDED Gene map locus 8q24.11-q24.13 (link from Ensembl BioMart) ENSP00000220888 190350 OMIM phenotype: TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Gene map locus 8q24.12 (link from Ensembl BioMart) ENSP00000220888 190351 OMIM phenotype: TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 Gene map locus 8q24.12 (link from Ensembl BioMart) ENSP00000220888 604386 OMIM gene: ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1 Gene map locus 8q24.12 (link from Ensembl BioMart) ENSP00000220913 607268 OMIM gene: CHROMATIN ACCESSIBILITY COMPLEX, SUBUNIT 1; CHRAC1 Gene map locus 8q11-q12 (link from Ensembl BioMart) ENSP00000220940 602370 OMIM gene: GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED MOLECULE-LIKE PROTEIN; GML Gene map locus 8q24.3 (link from Ensembl BioMart) ENSP00000220959 608413 OMIM gene: E3 UBIQUITIN PROTEIN LIGASE, HECT DOMAIN-CONTAINING, 1; EDD1 Gene map locus 8q22.3 (link from Ensembl BioMart) ENSP00000221086 606260 OMIM gene: MYOTUBULARIN-RELATED PROTEIN 9; MTMR9 Gene map locus 8p23-p22 (link from Ensembl BioMart) ENSP00000221130 138300 OMIM gene: GLUTATHIONE REDUCTASE; GSR GLUTATHIONE REDUCTASE, HEMOLYTIC ANEMIA DUE TO DEFICIENCY OF, IN RED CELLS, INCLUDED Gene map locus 8p21.1 (link from Ensembl BioMart) ENSP00000221132 603611 OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10A; TNFRSF10A Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000221138 176916 OMIM gene: PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, BETA ISOFORM; PPP2CB Gene map locus 8p12-p11.2 (link from Ensembl BioMart) ENSP00000221166 162250 OMIM gene: NEUROFILAMENT 3; NEF3 Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000221167 601385 OMIM gene: TUMOR SUPPRESSOR CANDIDATE 3; TUSC3 Gene map locus 8p22 (link from Ensembl BioMart) ENSP00000221204 605776 OMIM gene: FIBRINOGEN-LIKE 1; FGL1 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000221209 605368 OMIM gene: BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3-LIKE; BNIP3L Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000221232 604910 OMIM gene: CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 3; CNOT3 (link from Ensembl BioMart) ENSP00000221233 606492 OMIM gene: EXOSOME COMPONENT 5; EXOSC5 (link from Ensembl BioMart) ENSP00000221249 603197 OMIM gene: NEUROPATHY TARGET ESTERASE Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000221264 173391 OMIM gene: PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000221270 209950 OMIM phenotype: ATYPICAL MYCOBACTERIOSIS, FAMILIAL BCG INFECTION, GENERALIZED FAMILIAL, INCLUDED Gene map locus 21q22.1-q22.2, 19p13.1, 6q23-q24, 5q31.1-q33.1, 2q32.2-q32.3 (link from Ensembl BioMart) ENSP00000221270 601604 OMIM gene: INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1 Gene map locus 19p13.1 (link from Ensembl BioMart) ENSP00000221283 601717 OMIM gene: SYNTAXIN-BINDING PROTEIN 2; STXBP2 Gene map locus 19p13.3-p13.2 (link from Ensembl BioMart) ENSP00000221303 600944 OMIM gene: DEOXYHYPUSINE SYNTHASE; DHPS Gene map locus 19p13.12-p13.11 (link from Ensembl BioMart) ENSP00000221327 606740 OMIM gene: ZINC FINGER PROTEIN 180; ZNF180 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000221363 248500 OMIM phenotype: MANNOSIDOSIS, ALPHA B, LYSOSOMAL ALPHA-MANNOSIDOSIS, TYPE II, INCLUDED Gene map locus 19cen-q12 (link from Ensembl BioMart) ENSP00000221363 609458 OMIM gene: MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 Gene map locus 19cen-q12 (link from Ensembl BioMart) ENSP00000221399 602309 OMIM gene: TUBBY-LIKE PROTEIN 2; TULP2 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000221403 606377 OMIM gene: DIMERIC DIHYDRODIOL DEHYDROGENASE; DHDH (link from Ensembl BioMart) ENSP00000221409 601983 OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 1; MAP4K1 (link from Ensembl BioMart) ENSP00000221413 604788 OMIM gene: RUVB, E. COLI, HOMOLOG-LIKE 2; RUVBL2 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221418 600696 OMIM gene: ENOYL-CoA HYDRATASE, PEROXISOMAL; ECH1 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000221419 164021 OMIM gene: NUCLEAR RIBONUCLEOPROTEIN PARTICLE L PROTEIN (link from Ensembl BioMart) ENSP00000221419 603083 OMIM gene: HETEROGENEOUS NUCLEAR RIBOPROTEIN L; HNRPL (link from Ensembl BioMart) ENSP00000221421 152780 OMIM gene: LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB MALE PSEUDOHERMAPHRODITISM DUE TO DEFECTIVE LH MOLECULE, INCLUDED Gene map locus 19q13.32 (link from Ensembl BioMart) ENSP00000221444 176268 OMIM gene: POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 7; KCNA7 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221448 180740 OMIM gene: SMALL NUCLEAR RIBONUCLEOPROTEIN, 70-KD; SNRP70 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221452 604758 OMIM gene: V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG B; RELB (link from Ensembl BioMart) ENSP00000221466 601437 OMIM gene: Fc FRAGMENT OF IgG, RECEPTOR TRANSPORTER, ALPHA; FCGRT Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221476 123310 OMIM gene: CREATINE KINASE, MUSCLE TYPE; CKM Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000221480 607583 OMIM gene: PEROXISOME BIOGENESIS FACTOR 11G Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000221481 126340 OMIM gene: EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 Gene map locus 19q13.2-q13.3 (link from Ensembl BioMart) ENSP00000221481 214150 OMIM phenotype: CEREBROOCULOFACIOSKELETAL SYNDROME Gene map locus 19q13.2-q13.3, 13q33, 10q11 (link from Ensembl BioMart) ENSP00000221481 278730 OMIM phenotype: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED Gene map locus 19q13.2-q13.3 (link from Ensembl BioMart) ENSP00000221481 601675 OMIM phenotype: TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED Gene map locus 19q13.2-q13.3, 6p25.3 (link from Ensembl BioMart) ENSP00000221482 607375 OMIM gene: DOT1-LIKE; DOT1L Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000221485 605208 OMIM gene: SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 7; SLC17A7 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000221486 606034 OMIM gene: RIBONUCLEASE H2, LARGE SUBUNIT; RNASEH2A Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000221494 600796 OMIM gene: SPLICING FACTOR 3A, SUBUNIT 2; SF3A2 Gene map locus 19p13.3-p13.2 (link from Ensembl BioMart) ENSP00000221496 261550 OMIM phenotype: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS Gene map locus 19p13.3-p13.2, 12q13 (link from Ensembl BioMart) ENSP00000221496 600957 OMIM gene: ANTI-MULLERIAN HORMONE; AMH Gene map locus 19p13.3-p13.2 (link from Ensembl BioMart) ENSP00000221498 605418 OMIM gene: DICKKOPF-LIKE 1; DKKL1 Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000221515 605565 OMIM gene: RESISTIN; RETN Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000221538 607548 OMIM gene: RADIAL SPOKEHEAD-LIKE 1; RSHL1 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221561 600188 OMIM gene: AMINO-TERMINAL ENHANCER OF SPLIT; AES Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000221566 603419 OMIM gene: SMALL GLUTAMINE-RICH TETRATRICOPEPTIDE REPEAT-CONTAINING PROTEIN, ALPHA; SGTA Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000221573 605076 OMIM gene: SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 2; SNAPC2 (link from Ensembl BioMart) ENSP00000221665 609133 OMIM gene: FLT3-INTERACTING ZINC FINGER PROTEIN 1; FIZ1 (link from Ensembl BioMart) ENSP00000221700 604426 OMIM gene: CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 2; CYP4F2 (link from Ensembl BioMart) ENSP00000221740 605848 OMIM gene: CASPASE 14, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP14 Gene map locus 19p13.1 (link from Ensembl BioMart) ENSP00000221742 600637 OMIM gene: SOLUTE CARRIER FAMILY 1 (HIGH AFFINITY ASPARTATE/GLUTAMATE TRANSPORTER), MEMBER 6; SLC1A6 (link from Ensembl BioMart) ENSP00000221770 606114 OMIM gene: PROCESSING OF PRECURSOR 4, S. CEREVISIAE, HOMOLOG OF; POP4 Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000221784 604583 OMIM gene: PROGRAMMED CELL DEATH 5; PDCD5 (link from Ensembl BioMart) ENSP00000221797 608717 OMIM gene: LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 13; LGALS13 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000221801 134795 OMIM gene: FIBRILLARIN; FBL (link from Ensembl BioMart) ENSP00000221803 604556 OMIM gene: DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1B; DYRK1B Gene map locus 19q12-q13.11 (link from Ensembl BioMart) ENSP00000221804 153310 OMIM gene: CHARCOT-LEYDEN CRYSTAL PROTEIN; CLC Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000221847 605816 OMIM gene: EPSTEIN-BARR VIRUS-INDUCED GENE 3; EBI3 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000221855 601303 OMIM gene: CYTOSKELETON-ASSOCIATED PROTEIN 1; CKAP1 Gene map locus 19q13.11-q13.12 (link from Ensembl BioMart) ENSP00000221856 609828 OMIM gene: FIBRONECTIN TYPE III AND SPRY DOMAINS-CONTAINING PROTEIN 1; FSD1 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000221859 180662 OMIM gene: POLYMERASE II, RNA, SUBUNIT I; POLR2I Gene map locus 19q12 (link from Ensembl BioMart) ENSP00000221891 104775 OMIM gene: AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 1; APLP1 Gene map locus 19cen-q13.2 (link from Ensembl BioMart) ENSP00000221926 603619 OMIM gene: FIZZY-RELATED PROTEIN, DROSOPHILA, HOMOLOG OF, 1; FZR1 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000221930 131300 OMIM phenotype: CAMURATI-ENGELMANN DISEASE Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000221930 190180 OMIM gene: TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000221957 602702 OMIM gene: MANNOSE 6-PHOSPHATE RECEPTOR-BINDING PROTEIN, 47-KD (link from Ensembl BioMart) ENSP00000221972 112205 OMIM gene: CD79A ANTIGEN; CD79A Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000221973 154045 OMIM gene: LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2 CATARACT, CORTICAL PULVERULENT, LATE-ONSET, INCLUDED Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000221975 105650 OMIM phenotype: DIAMOND-BLACKFAN ANEMIA; DBA Gene map locus 19q13.2, 8p23.3-p22 (link from Ensembl BioMart) ENSP00000221975 603474 OMIM gene: RIBOSOMAL PROTEIN S19; RPS19 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000221978 606008 OMIM gene: NATURAL KILLER CELL GROUP 7 SEQUENCE; NKG7 (link from Ensembl BioMart) ENSP00000221980 601852 OMIM gene: INTERCELLULAR ADHESION MOLECULE 5; ICAM5 Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000221992 114890 OMIM gene: CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5; CEACAM5 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000221996 120970 OMIM phenotype: CONE-ROD DYSTROPHY 2; CORD2 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221996 204000 OMIM phenotype: LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1 Gene map locus 19q13.3, 17p13.1, 1q31-q32.1, 14q11, 6q11-q16 (link from Ensembl BioMart) ENSP00000221996 268000 OMIM phenotype: RETINITIS PIGMENTOSA; RP Gene map locus 19q13.3, 1q41, 16q13, 15q26, 15q23, 2q14.1 (link from Ensembl BioMart) ENSP00000221996 602225 OMIM gene: CONE-ROD HOMEOBOX-CONTAINING GENE; CRX LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRX, INCLUDED Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221999 609142 OMIM gene: CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 3; CEACAM3 (link from Ensembl BioMart) ENSP00000222002 125263 OMIM gene: SULFOTRANSFERASE FAMILY 2A, DEHYDROEPIANDROSTERONE-PREFERRING, MEMBER 1; SULT2A1 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000222005 605065 OMIM gene: CELL DIVISION CYCLE 37, S. CEREVISIAE, HOMOLOG OF; CDC37 (link from Ensembl BioMart) ENSP00000222008 604925 OMIM gene: RAB ACCEPTOR 1; RABAC1 Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000222107 604200 OMIM gene: SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 5; SIGLEC5 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000222115 601463 OMIM gene: HYALURONAN SYNTHASE 1; HAS1 Gene map locus 19q13.3-q13.4 (link from Ensembl BioMart) ENSP00000222120 604350 OMIM gene: RAS-ASSOCIATED PROTEIN RAB3D; RAB3D Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000222122 124097 OMIM gene: D SITE OF ALBUMIN PROMOTER-BINDING PROTEIN; DBP Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000222125 114212 OMIM gene: CALCYPHOSINE; CAPS Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000222139 133100 OMIM phenotype: ERYTHROCYTOSIS, FAMILIAL Gene map locus 19p13.3-p13.2 (link from Ensembl BioMart) ENSP00000222139 133171 OMIM gene: ERYTHROPOIETIN RECEPTOR; EPOR Gene map locus 19p13.3-p13.2 (link from Ensembl BioMart) ENSP00000222145 609623 OMIM gene: RAS-INTERACTING PROTEIN 1; RASIP1 Gene map locus 19q13.33 (link from Ensembl BioMart) ENSP00000222157 609436 OMIM gene: FIBROBLAST GROWTH FACTOR 21; FGF21 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000222212 606899 OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-7 SUBUNIT; CACNG7 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000222214 231670 OMIM phenotype: GLUTARIC ACIDEMIA I Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000222214 608801 OMIM gene: GLUTARYL-CoA DEHYDROGENASE; GCDH Gen