Human disease genes 604718-604828

604614-604717 --- 604829-604941

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
604718: OMIM gene: TRANSCRIPTION TERMINATION FACTOR, RNA POLYMERASE II; TTF2 (link from Ensembl BioMart) ENSP00000251165 ORTHOMCL1591 jaccard_48
604719: OMIM gene: SERINE/THREONINE PROTEIN KINASE 16; STK16 (link from Ensembl BioMart) ENSP00000351781 ORTHOMCL3915 jaccard_7574
604720: OMIM gene: TRANSFERRIN RECEPTOR 2; TFR2 Gene map locus 7q22 (link from Ensembl BioMart) ENSP00000223051 ORTHOMCL9011 jaccard_590
604721: OMIM gene: SH2 DOMAIN-CONTAINING PROTEIN 1 (link from Ensembl BioMart) ENSP00000245908 jaccard_2004
604722: OMIM gene: SH2 DOMAIN-CONTAINING PROTEIN 3 (link from Ensembl BioMart) ENSP00000317817 ORTHOMCL8663 jaccard_2004
ENSP00000338144 ORTHOMCL8663 jaccard_2004
604723: OMIM gene: Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TSFM Gene map locus 12q13-q14 (link from Ensembl BioMart) ENSP00000313877 ORTHOMCL2609 jaccard_3979
ENSP00000242983 ORTHOMCL2609 jaccard_3979
604724: OMIM gene: HEPARANASE; HPSE Gene map locus 4q21.3 (link from Ensembl BioMart) ENSP00000308107 ORTHOMCL1991 jaccard_987
604725: OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 2; USP2 (link from Ensembl BioMart) ENSP00000322149 ORTHOMCL1657 jaccard_81
ENSP00000260187 ORTHOMCL1657 jaccard_81
604726: OMIM gene: SERINE/THREONINE PROTEIN KINASE 17A; STK17A (link from Ensembl BioMart) ENSP00000319192 ORTHOMCL5726 jaccard_13
604727: OMIM gene: SERINE/THREONINE PROTEIN KINASE 17B; STK17B (link from Ensembl BioMart) ENSP00000263955 ORTHOMCL5726 jaccard_13
604728: OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 3; USP3 Gene map locus 15q22.3 (link from Ensembl BioMart) ENSP00000268049 ORTHOMCL12747 jaccard_81
604730: OMIM gene: TUBBY-LIKE PROTEIN 3; TULP3 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000327185 ORTHOMCL8533 jaccard_544
ENSP00000228245 ORTHOMCL8533 jaccard_544
604731: OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 15; USP15 (link from Ensembl BioMart) ENSP00000258123 ORTHOMCL595 jaccard_81
ENSP00000280377 ORTHOMCL595 jaccard_81
604732: OMIM gene: TRANSCRIPTION FACTOR EC; TFEC (link from Ensembl BioMart) ENSP00000318676
ENSP00000265440 ORTHOMCL10481 jaccard_531
604733: OMIM gene: TRYPTOPHANYL-tRNA SYNTHETASE 2; WARS2 Gene map locus 1p13.3-p13.1 (link from Ensembl BioMart) ENSP00000235521 ORTHOMCL2650 jaccard_3184
604735: OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 16; USP16 (link from Ensembl BioMart) ENSP00000334808 ORTHOMCL1911 jaccard_81
604736: OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 25; USP25 (link from Ensembl BioMart) ENSP00000285681 ORTHOMCL10279 jaccard_2902
ENSP00000285679 ORTHOMCL10279 jaccard_2902
604737: OMIM gene: WD REPEAT-CONTAINING PROTEIN 3; WDR3 Gene map locus 1p13-p12 (link from Ensembl BioMart) ENSP00000344111 ORTHOMCL3748 jaccard_17
ENSP00000308179 ORTHOMCL3748 jaccard_17
604738: OMIM gene: CHEMOKINE, CC MOTIF, RECEPTOR 9; CCR9 (link from Ensembl BioMart) ENSP00000348260 ORTHOMCL10625 jaccard_6
ENSP00000350256 ORTHOMCL10625 jaccard_6
604739: OMIM gene: RNA-BINDING REGION-CONTAINING PROTEIN 2; RNPC2 HCC1.3, INCLUDED (link from Ensembl BioMart) ENSP00000253363 ORTHOMCL804 jaccard_324
ENSP00000354437 ORTHOMCL13482 jaccard_324
ENSP00000351749 ORTHOMCL804 jaccard_324
ENSP00000344581 ORTHOMCL13482 jaccard_324
604740: OMIM gene: SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 1; SLC39A1 Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000348535 ORTHOMCL744 jaccard_467
ENSP00000309710 ORTHOMCL744 jaccard_467
604741: OMIM gene: ALDO-KETO REDUCTASE FAMILY 1, MEMBER D1; AKR1D1 (link from Ensembl BioMart) ENSP00000242375 ORTHOMCL22357 jaccard_78
604742: OMIM gene: DOUBLECORTIN- AND CALMODULIN KINASE-LIKE 1; DCAMKL1 Gene map locus 13q13 (link from Ensembl BioMart) ENSP00000255448 ORTHOMCL3215 jaccard_5389
ENSP00000353846 ORTHOMCL3215 jaccard_5389
604743: OMIM gene: DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 1; DDAH1 Gene map locus 1p22 (link from Ensembl BioMart) ENSP00000352644 ORTHOMCL8674 jaccard_4087
ENSP00000284031 ORTHOMCL8674 jaccard_4087
604744: OMIM gene: DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 2; DDAH2 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000229707 ORTHOMCL21999 jaccard_4087
604745: OMIM gene: TRANSCRIPTION FACTOR-LIKE 5; TCFL5 (link from Ensembl BioMart) ENSP00000334294 ORTHOMCL16803 jaccard_9229
604746: OMIM gene: TESTIS-SPECIFIC PROTEIN KINASE 2; TESK2 (link from Ensembl BioMart) ENSP00000165317 ORTHOMCL9610 jaccard_8253
604747: OMIM gene: SRY-BOX 14; SOX14 Gene map locus 3q23 (link from Ensembl BioMart) ENSP00000305343 ORTHOMCL22588 jaccard_572
604748: OMIM gene: SRY-BOX 13; SOX13 Gene map locus 1q32 (link from Ensembl BioMart) ENSP00000272193 ORTHOMCL15938 jaccard_1574
604749: OMIM gene: ZINC FINGER PROTEIN 93, MOUSE, HOMOLOG OF; ZFP93 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000291182 ORTHOMCL20047 jaccard_1
604750: OMIM gene: ZINC FINGER PROTEIN 234; ZNF234 (link from Ensembl BioMart) ENSP00000244316 ORTHOMCL2381 jaccard_1
604751: OMIM gene: ZINC FINGER PROTEIN 266; ZNF266 Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000354680 ORTHOMCL12571 jaccard_1
ENSP00000355047 ORTHOMCL12571 jaccard_1
604752: OMIM gene: ZINC FINGER PROTEIN 267; ZNF267 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000300870 jaccard_1
604754: OMIM gene: ZINC FINGER PROTEIN 271; ZNF271 Gene map locus 18q12 (link from Ensembl BioMart) ENSP00000323881 ORTHOMCL17573 jaccard_1
604755: OMIM gene: ZINC FINGER PROTEIN 272; ZNF272 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000353491
604756: OMIM gene: ZINC FINGER PROTEIN 273; ZNF273 (link from Ensembl BioMart) ENSP00000324518 ORTHOMCL135 jaccard_1
604757: OMIM phenotype: CRANIOSYNOSTOSIS, TYPE 2; CRS2 Gene map locus 5q34-q35 (link from NCBI) ENSP00000239243 ORTHOMCL10888 jaccard_13323
604758: OMIM gene: V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG B; RELB (link from Ensembl BioMart) ENSP00000221452 ORTHOMCL23017 jaccard_3151
604759: OMIM gene: SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3 Gene map locus 12q23 (link from Ensembl BioMart) ENSP00000266743 ORTHOMCL11884 jaccard_274
604760: OMIM gene: ZINC FINGER PROTEIN 236; ZNF236 ZNF236A, INCLUDED Gene map locus 18q22-q23 (link from Ensembl BioMart) ENSP00000322361 ORTHOMCL18127 jaccard_1
604761: OMIM gene: ZINC FINGER PROTEIN 216; ZNF216 Gene map locus 9q13-q21 (link from Ensembl BioMart) ENSP00000350586 ORTHOMCL355 jaccard_618
ENSP00000237937 ORTHOMCL355 jaccard_618
604762: OMIM gene: SWITCH-ASSOCIATED PROTEIN 70 Gene map locus 11p15 (link from Ensembl BioMart) ENSP00000315630 ORTHOMCL10772 jaccard_11861
604763: OMIM gene: RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12; ARHGEF12 LARG/MLL FUSION GENE, INCLUDED Gene map locus 11q23.3 (link from Ensembl BioMart) ENSP00000349056 ORTHOMCL1686 jaccard_1239
604764: OMIM gene: ZINC FINGER AND HOMEODOMAIN PROTEIN 1; ZHX1 Gene map locus 8q (link from Ensembl BioMart) ENSP00000297857 ORTHOMCL8025 jaccard_1730
604765: OMIM phenotype: CARDIOMYOPATHY, DILATED, 1I; CMD1I Gene map locus 2q35 (link from NCBI) ENSP00000273074 ORTHOMCL15062 jaccard_0
604766: OMIM gene: PODOCIN; NPHS2 Gene map locus 1q25-q31 (link from Ensembl BioMart) ENSP00000263730 ORTHOMCL3675 jaccard_170
604767: OMIM gene: DELETED IN ESOPHAGEAL CANCER 1 Gene map locus 9q32 (link from Ensembl BioMart) ENSP00000311671
604769: OMIM gene: PEROXIREDOXIN 3; PRDX3 Gene map locus 10q25-q26 (link from Ensembl BioMart) ENSP00000349432 ORTHOMCL22161 jaccard_368
ENSP00000298510 ORTHOMCL654 jaccard_368
604770: OMIM gene: ACETYL-CoA ACYLTRANSFERASE 2; ACAA2 (link from Ensembl BioMart) ENSP00000285093 ORTHOMCL12605 jaccard_316
604772: OMIM phenotype: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC; CPVT Gene map locus 1q42.1-q43, 1p13.3-p11 (link from NCBI) ENSP00000348047 ORTHOMCL719 jaccard_276
ENSP00000261448 ORTHOMCL9511 jaccard_77
604773: OMIM gene: ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8 Gene map locus 11q25 (link from Ensembl BioMart) ENSP00000281182 ORTHOMCL7261 jaccard_236
604774: OMIM gene: ANGIOPOIETIN-LIKE 3; ANGPTL3 Gene map locus 1p31 (link from Ensembl BioMart) ENSP00000255208 ORTHOMCL13089 jaccard_135
604775: OMIM gene: TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1; TRPA1 Gene map locus 8q13 (link from Ensembl BioMart) ENSP00000262209 ORTHOMCL7569 jaccard_11
604776: OMIM gene: MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-5; HLA-DRB5 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000350239 ORTHOMCL841 jaccard_64
604778: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 29; ADAM29 Gene map locus 4q34 (link from Ensembl BioMart) ENSP00000352177 ORTHOMCL15037 jaccard_41
604779: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 30; ADAM30 Gene map locus 1p13-p11 (link from Ensembl BioMart) ENSP00000256645 ORTHOMCL22834 jaccard_41
604780: OMIM gene: COMPARATIVE GENE IDENTIFICATION 58 Gene map locus 3p21 (link from Ensembl BioMart) ENSP00000013894 ORTHOMCL19156 jaccard_1183
604782: OMIM gene: ASH2-LIKE; ASH2L Gene map locus 8p11.2 (link from Ensembl BioMart) ENSP00000340896 ORTHOMCL2143 jaccard_2551
604783: OMIM gene: CLEFT LIP- AND PALATE-ASSOCIATED TRANSMEMBRANE PROTEIN 1; CLPTM1 (link from Ensembl BioMart) ENSP00000270281 ORTHOMCL3575 jaccard_1661
ENSP00000336994 ORTHOMCL3575 jaccard_1661
604784: OMIM gene: TRANSCRIPTION ELONGATION FACTOR A, 2; TCEA2 (link from Ensembl BioMart) ENSP00000339432 ORTHOMCL4157 jaccard_944
ENSP00000354552 ORTHOMCL4157 jaccard_944
ENSP00000306189 ORTHOMCL4157 jaccard_944
ENSP00000343515 ORTHOMCL4157 jaccard_944
604785: OMIM gene: CATENIN, ALPHA-LIKE, 1; CTNNAL1 (link from Ensembl BioMart) ENSP00000320434 ORTHOMCL2222 jaccard_649
604786: OMIM gene: ADP-RIBOSYLATION FACTOR-LIKE 4; ARL4 Gene map locus 7q (link from Ensembl BioMart) ENSP00000349250 ORTHOMCL6641 jaccard_53
604787: OMIM gene: ADP-RIBOSYLATION FACTOR-LIKE 7; ARL7 (link from Ensembl BioMart) ENSP00000339754 ORTHOMCL11140 jaccard_53
604788: OMIM gene: RUVB, E. COLI, HOMOLOG-LIKE 2; RUVBL2 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221413 ORTHOMCL3464 jaccard_1324
604789: OMIM gene: INTEGRIN, ALPHA-11; ITGA11 Gene map locus 15q22.3-q23 (link from Ensembl BioMart) ENSP00000327290 ORTHOMCL10788 jaccard_160
604791: OMIM gene: TASTE RECEPTOR, TYPE 2, MEMBER 10; TAS2R10 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000240619 ORTHOMCL6141 jaccard_277
604793: OMIM gene: TASTE RECEPTOR, TYPE 2, MEMBER 7; TAS2R7 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000240687 ORTHOMCL22018 jaccard_277
604794: OMIM gene: TASTE RECEPTOR, TYPE 2, MEMBER 8; TAS2R8 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000240615 ORTHOMCL23001 jaccard_277
604795: OMIM gene: TASTE RECEPTOR, TYPE 2, MEMBER 9; TAS2R9 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000240691 ORTHOMCL23001 jaccard_277
604796: OMIM gene: TASTE RECEPTOR, TYPE 2, MEMBER 1; TAS2R1 Gene map locus 5p15 (link from Ensembl BioMart) ENSP00000304138 ORTHOMCL22410 jaccard_277
604797: OMIM gene: APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 2; APOBEC2 Gene map locus 6p21 (link from Ensembl BioMart) ENSP00000244669 ORTHOMCL11956 jaccard_1175
604798: OMIM gene: HOMER, NEURONAL IMMEDIATE EARLY GENE, 1B HOMER, NEURONAL IMMEDIATE EARLY GENE, 1A, INCLUDED; HOMER1A, INCLUDED (link from Ensembl BioMart) ENSP00000334382 ORTHOMCL10777 jaccard_1353
604799: OMIM gene: HOMER 2 HOMER 2A, INCLUDED (link from Ensembl BioMart) ENSP00000305632 ORTHOMCL18381 jaccard_1353
604800: OMIM gene: HOMER 3 (link from Ensembl BioMart) ENSP00000348150 ORTHOMCL3428 jaccard_1353
604803: OMIM gene: CHROMOSOME 21 OPEN READING FRAME 5; C21ORF5 Gene map locus Chr.21 (link from Ensembl BioMart) ENSP00000270190 ORTHOMCL2695 jaccard_4043
604804: OMIM phenotype: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3; MCPH3 Gene map locus 9q33.3 (link from NCBI) ENSP00000343818 ORTHOMCL3012 jaccard_3
ENSP00000353317 ORTHOMCL3012 jaccard_3
604806: OMIM gene: FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 1; FLRT1 Gene map locus 11q12-q13 (link from Ensembl BioMart) ENSP00000246841 ORTHOMCL15787 jaccard_7
604807: OMIM gene: FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 2; FLRT2 Gene map locus 14q24-q32 (link from Ensembl BioMart) ENSP00000332879 ORTHOMCL10011 jaccard_7
604808: OMIM gene: FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 3; FLRT3 Gene map locus 20p11 (link from Ensembl BioMart) ENSP00000339912 ORTHOMCL13587 jaccard_7
ENSP00000246047 ORTHOMCL13587 jaccard_7
604809: OMIM phenotype: PANBRONCHIOLITIS, DIFFUSE Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000305948 ORTHOMCL23171
604810: OMIM gene: LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; LILRA1 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000251372 ORTHOMCL510 jaccard_2
604811: OMIM gene: LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; LILRB1 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000315997 ORTHOMCL510 jaccard_2
604812: OMIM gene: LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 2; LILRA2 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000251377 ORTHOMCL510 jaccard_2
ENSP00000251376 ORTHOMCL510 jaccard_2
604813: OMIM gene: CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX17; COX17 Gene map locus 3q (link from Ensembl BioMart) ENSP00000261070 ORTHOMCL4051 jaccard_3341
604814: OMIM gene: LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 5; LILRB5 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000320390 ORTHOMCL510 jaccard_2
604815: OMIM gene: LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 2; LILRB2 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000319960 ORTHOMCL510 jaccard_2
604817: OMIM gene: CARBOHYDRATE SULFOTRANSFERASE 5; CHST5 Gene map locus 16q22 (link from Ensembl BioMart) ENSP00000338783 ORTHOMCL8756 jaccard_855
604818: OMIM gene: LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 3; LILRA3 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000251390 ORTHOMCL510 jaccard_2
604819: OMIM gene: FUSE-BINDING PROTEIN-INTERACTING REPRESSOR (link from Ensembl BioMart) ENSP00000322016 ORTHOMCL2368 jaccard_324
ENSP00000322036 ORTHOMCL2368 jaccard_324
604820: OMIM gene: LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 3; LILRB3 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000245620 ORTHOMCL510 jaccard_2
604821: OMIM gene: LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 4; LILRB4 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000270452 ORTHOMCL510 jaccard_2
604822: OMIM gene: CALPAIN 11; CAPN11 Gene map locus 6p12 (link from Ensembl BioMart) ENSP00000259755 ORTHOMCL19035 jaccard_213
604823: OMIM gene: BarH-LIKE HOMEOBOX GENE 2; BARX2 Gene map locus 11q25 (link from Ensembl BioMart) ENSP00000281437 ORTHOMCL11934
604824: OMIM gene: KLOTHO; KL CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED Gene map locus 13q12 (link from Ensembl BioMart) ENSP00000255481 ORTHOMCL12331 jaccard_204
604825: OMIM gene: FASCICULATION AND ELONGATION PROTEIN ZETA 1; FEZ1 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000278919 ORTHOMCL11226 jaccard_2284
604826: OMIM gene: FASCICULATION AND ELONGATION PROTEIN ZETA 2; FEZ2 (link from Ensembl BioMart) ENSP00000350685 ORTHOMCL5290 jaccard_2284
ENSP00000305843 ORTHOMCL5290 jaccard_2284
604828: OMIM gene: CHEMOKINE, C MOTIF, LIGAND 2; XCL2 Gene map locus 1q23 (link from Ensembl BioMart) ENSP00000271402 ORTHOMCL11207 jaccard_248