Human disease genes 600328-600464

600189-600327 --- 600465-600586

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
600328: OMIM gene: MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 6; MLLT6 Gene map locus 17q21 (link from Ensembl BioMart) ENSP00000316426 ORTHOMCL2305 jaccard_11083
600334: OMIM phenotype: TIBIAL MUSCULAR DYSTROPHY, TARDIVE Gene map locus 2q24.3 (link from NCBI) ENSP00000354117 ORTHOMCL56 jaccard_2
ENSP00000348444
ENSP00000352154 ORTHOMCL56 jaccard_2
ENSP00000340554 ORTHOMCL56 jaccard_2
ENSP00000286104 ORTHOMCL56 jaccard_2
600336: OMIM gene: SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE TRANSPORTER), MEMBER 3; SLC18A3 Gene map locus 10q11.2 (link from Ensembl BioMart) ENSP00000342819 ORTHOMCL7802 jaccard_1161
600337: OMIM gene: BRADYKININ RECEPTOR B1; BDKRB1 Gene map locus 14q32.1-q32.2 (link from Ensembl BioMart) ENSP00000216629 ORTHOMCL22978 jaccard_6
600338: OMIM gene: ARYLACETAMIDE DEACETYLASE; AADAC Gene map locus 3q21.3-q25.2 (link from Ensembl BioMart) ENSP00000232892 ORTHOMCL8791 jaccard_405
600340: OMIM gene: TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 11; TM4SF11 Gene map locus 16q13 (link from Ensembl BioMart) ENSP00000219207 ORTHOMCL4633 jaccard_385
600341: OMIM gene: TYRO3 PROTEIN TYROSINE KINASE; TYRO3 Gene map locus 15q15.1-q21.1 (link from Ensembl BioMart) ENSP00000263798 ORTHOMCL6297 jaccard_2
600342: OMIM gene: G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR Gene map locus 10q23 (link from Ensembl BioMart) ENSP00000352427 ORTHOMCL11804 jaccard_7000
ENSP00000277780 ORTHOMCL8935 jaccard_6
600345: OMIM gene: BETACELLULIN; BTC Gene map locus 4q13-q21 (link from Ensembl BioMart) ENSP00000312050 ORTHOMCL24898 jaccard_2418
600346: OMIM gene: POLYCOMB GROUP RING FINGER PROTEIN 2; PCGF2 Gene map locus 17q12 (link from Ensembl BioMart) ENSP00000354033 ORTHOMCL13027 jaccard_682
600347: OMIM phenotype: BREVICAN (link from Ensembl BioMart) ENSP00000354925 ORTHOMCL6246 jaccard_553
ENSP00000331210 ORTHOMCL6246 jaccard_553
600349: OMIM gene: INHIBITOR OF DNA BINDING 1; ID1 Gene map locus 20q11 (link from Ensembl BioMart) ENSP00000262656 ORTHOMCL13047 jaccard_1976
ENSP00000340000 ORTHOMCL13047 jaccard_1976
600353: OMIM gene: S100 CALCIUM-BINDING PROTEIN A7; S100A7 Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000271860 ORTHOMCL11911 jaccard_302
600354: OMIM gene: SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1 Gene map locus 5q12.2-q13.3 (link from Ensembl BioMart) ENSP00000305857 ORTHOMCL24375 jaccard_3382
ENSP00000351847 ORTHOMCL24375 jaccard_3382
600355: OMIM gene: BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 1; BIRC1 Gene map locus 5q12.2-q13.3 (link from Ensembl BioMart) ENSP00000194097 ORTHOMCL4353 jaccard_2822
600357: OMIM gene: RIBOSOMAL PROTEIN S8; RPS8 Gene map locus 1p34.1-p32 (link from Ensembl BioMart) ENSP00000271105 ORTHOMCL1931 jaccard_680
600358: OMIM gene: GUANINE MONOPHOSPHATE SYNTHETASE; GMPS GMPS/MLL FUSION GENE, INCLUDED Gene map locus 3q24 (link from Ensembl BioMart) ENSP00000295920 ORTHOMCL3487 jaccard_1732
600359: OMIM gene: POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1 Gene map locus 11q24 (link from Ensembl BioMart) ENSP00000316136 ORTHOMCL2596 jaccard_224
ENSP00000316233 ORTHOMCL2596 jaccard_224
600362: OMIM gene: FLIGHTLESS I, DROSOPHILA, HOMOLOG OF; FLII Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000324573 ORTHOMCL8683 jaccard_353
600363: OMIM phenotype: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 Gene map locus 15q11.1 (link from NCBI) ENSP00000337452 ORTHOMCL21817 jaccard_630
600364: OMIM gene: GUANYLATE CYCLASE ACTIVATOR 1A; GUCA1A Gene map locus 6p21.1 (link from Ensembl BioMart) ENSP00000053469 ORTHOMCL16018 jaccard_16
600365: OMIM gene: ACTIVE BCR-RELATED GENE; ABR Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000291107 ORTHOMCL1978 jaccard_3239
ENSP00000303909 ORTHOMCL1978 jaccard_3239
600366: OMIM gene: ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1 Gene map locus 5q (link from Ensembl BioMart) ENSP00000230658 ORTHOMCL8483 jaccard_223
600367: OMIM gene: CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 3, 77-KD; CSTF3 (link from Ensembl BioMart) ENSP00000315791 ORTHOMCL5936 jaccard_327
600368: OMIM gene: CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD; CSTF2 (link from Ensembl BioMart) ENSP00000263028 ORTHOMCL1682 jaccard_8628
600369: OMIM gene: CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 1, 50-KD; CSTF1 (link from Ensembl BioMart) ENSP00000217109 ORTHOMCL2685 jaccard_17
600370: OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 3; SLC25A3 Gene map locus 12q23 (link from Ensembl BioMart) ENSP00000188376 ORTHOMCL1283 jaccard_27
ENSP00000228318 ORTHOMCL1283 jaccard_27
600372: OMIM gene: NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 1; NEDD1 Gene map locus 12q22 (link from Ensembl BioMart) ENSP00000266742 ORTHOMCL9358 jaccard_2499
600374: OMIM gene: BBS4 GENE; BBS4 Gene map locus 15q22.3-q23 (link from Ensembl BioMart) ENSP00000268057 ORTHOMCL5666 jaccard_1987
600375: OMIM gene: X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; XRCC2 Gene map locus 7q36.1 (link from Ensembl BioMart) ENSP00000352271 ORTHOMCL5789 jaccard_4148
600376: OMIM phenotype: OSLER-RENDU-WEBER SYNDROME 2; ORW2 HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION, INCLUDED Gene map locus 12q11-q14 (link from NCBI) ENSP00000267008 ORTHOMCL13339 jaccard_285
600377: OMIM gene: GALANIN RECEPTOR 1; GALR1 Gene map locus 18q23 (link from Ensembl BioMart) ENSP00000299727 ORTHOMCL2217 jaccard_6
600378: OMIM gene: INNER MEMBRANE PROTEIN, MITOCHONDRIAL; IMMT Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000254636 ORTHOMCL2131
600379: OMIM gene: MYELIN TRANSCRIPTION FACTOR 1; MYT1 (link from Ensembl BioMart) ENSP00000354922 ORTHOMCL7570 jaccard_1407
ENSP00000327465 ORTHOMCL7570 jaccard_1407
600380: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000253727 ORTHOMCL21403 jaccard_18
600381: OMIM gene: KINECTIN; KTN1 Gene map locus 14q22 (link from Ensembl BioMart) ENSP00000348562 ORTHOMCL9683 jaccard_3
600382: OMIM gene: MYC PROMOTER-BINDING PROTEIN (link from Ensembl BioMart) ENSP00000310831 ORTHOMCL2365 jaccard_596
600385: OMIM gene: ADENYLATE CYCLASE 7; ADCY7 Gene map locus 16q12-q13 (link from Ensembl BioMart) ENSP00000254235 ORTHOMCL1108 jaccard_200
600386: OMIM gene: INHIBITOR OF DNA BINDING 2; ID2 Gene map locus 2p25 (link from Ensembl BioMart) ENSP00000234091 ORTHOMCL15390 jaccard_1976
600387: OMIM gene: BONE MARROW STROMAL CELL ANTIGEN 1; BST1 Gene map locus 14q32.3 (link from Ensembl BioMart) ENSP00000265016 ORTHOMCL24940 jaccard_6919
600388: OMIM gene: MEPRIN, ALPHA SUBUNIT; MEP1A Gene map locus 6p21.2-p21.1 (link from Ensembl BioMart) ENSP00000230588 ORTHOMCL15579 jaccard_2860
600389: OMIM gene: MEPRIN, BETA SUBUNIT; MEP1B Gene map locus 18q12.2-q12.3 (link from Ensembl BioMart) ENSP00000269202 ORTHOMCL564 jaccard_2860
600390: OMIM gene: UPSTREAM STIMULATORY FACTOR 2; USF2 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000222305 ORTHOMCL11425 jaccard_2608
ENSP00000340633 ORTHOMCL21161 jaccard_2608
600391: OMIM gene: GLUCOSAMINYL (N-ACETYL) TRANSFERASE 1, CORE 2; GCNT1 Gene map locus 9q13 (link from Ensembl BioMart) ENSP00000333978 ORTHOMCL2385 jaccard_349
600392: OMIM gene: RAD52, YEAST, HOMOLOG OF; RAD52 Gene map locus 12p13-p12.2 (link from Ensembl BioMart) ENSP00000351284 ORTHOMCL9346 jaccard_7526
ENSP00000228345 ORTHOMCL20311 jaccard_14728
600393: OMIM gene: FLAP STRUCTURE-SPECIFIC ENDONUCLEASE 1; FEN1 Gene map locus 11q12 (link from Ensembl BioMart) ENSP00000305480 ORTHOMCL5644 jaccard_868
600395: OMIM gene: GLYPICAN 1; GPC1 Gene map locus 2q35-q37 (link from Ensembl BioMart) ENSP00000264039 ORTHOMCL15957 jaccard_1068
600396: OMIM gene: DEAD/H BOX 8; DDX8 (link from Ensembl BioMart) ENSP00000262415 ORTHOMCL2877 jaccard_96
600397: OMIM gene: POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1; KCNB1 Gene map locus 20q13.2 (link from Ensembl BioMart) ENSP00000289405 ORTHOMCL9081 jaccard_8352
600398: OMIM gene: ZINC FINGER PROTEIN 160; ZNF160 Gene map locus 19q13.3-q13.4 (link from Ensembl BioMart) ENSP00000270457 ORTHOMCL6025 jaccard_1
600400: OMIM gene: PROLYL ENDOPEPTIDASE; PREP Gene map locus 6q22 (link from Ensembl BioMart) ENSP00000229430 ORTHOMCL5941 jaccard_1857
600403: OMIM gene: FIBROBLAST ACTIVATION PROTEIN, ALPHA; FAP Gene map locus 2q23 (link from Ensembl BioMart) ENSP00000188790 ORTHOMCL836 jaccard_495
600404: OMIM gene: REPLICATION FACTOR C, SUBUNIT 2; RFC2 Gene map locus 7q11.23 (link from Ensembl BioMart) ENSP00000055077 ORTHOMCL3827 jaccard_500
ENSP00000275627 ORTHOMCL3827 jaccard_500
600405: OMIM gene: REPLICATION FACTOR C, SUBUNIT 3; RFC3 Gene map locus 13q12.3-q13 (link from Ensembl BioMart) ENSP00000255484 ORTHOMCL4485 jaccard_500
600407: OMIM gene: REPLICATION FACTOR C, SUBUNIT 5; RFC5 Gene map locus 12q24.2-q24.3 (link from Ensembl BioMart) ENSP00000229043 ORTHOMCL5002 jaccard_500
600408: OMIM gene: DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 1; DDR1 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000318217 ORTHOMCL5702 jaccard_1973
ENSP00000259875 ORTHOMCL5702 jaccard_1973
ENSP00000354844 ORTHOMCL5702 jaccard_1973
600409: OMIM gene: PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD Gene map locus 6p21.2-p21.1 (link from Ensembl BioMart) ENSP00000353916 ORTHOMCL8803 jaccard_18
ENSP00000310928 ORTHOMCL8803 jaccard_18
600410: OMIM gene: TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 6; TNFAIP6 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000243347 ORTHOMCL17333 jaccard_9084
600411: OMIM gene: GUANYLATE BINDING PROTEIN 1, INTERFERON-INDUCIBLE, 67-KD; GBP1 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000235880 ORTHOMCL3566 jaccard_443
600412: OMIM gene: GUANYLATE BINDING PROTEIN 2, INTERFERON-INDUCIBLE; GBP2 (link from Ensembl BioMart) ENSP00000294663 ORTHOMCL3566 jaccard_443
600414: OMIM gene: PEROXISOME RECEPTOR 1; PXR1 Gene map locus 12p13.3 (link from Ensembl BioMart) ENSP00000266564 ORTHOMCL2130 jaccard_1294
ENSP00000266563 ORTHOMCL2130 jaccard_1294
600415: OMIM gene: TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA Gene map locus 8q13.1-q13.3 (link from Ensembl BioMart) ENSP00000260116 ORTHOMCL14866 jaccard_121
600417: OMIM gene: 5-PRIME-@NUCLEOTIDASE, CYTOSOLIC II; NT5C2 Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000339479 ORTHOMCL1747 jaccard_584
600418: OMIM gene: AMPHIPHYSIN; AMPH Gene map locus 7p14-p13 (link from Ensembl BioMart) ENSP00000342268 jaccard_1249
ENSP00000348602 ORTHOMCL11096 jaccard_1249
600421: OMIM gene: GLYCINE RECEPTOR, ALPHA-3 SUBUNIT; GLRA3 Gene map locus 4q33-q34 (link from Ensembl BioMart) ENSP00000274093 ORTHOMCL677 jaccard_32
600422: OMIM gene: FATTY ACID-BINDING PROTEIN 6; FABP6 Gene map locus 5q23-q35 (link from Ensembl BioMart) ENSP00000312283 ORTHOMCL12855 jaccard_242
600424: OMIM gene: SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 1; SLC19A1 Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000308895 ORTHOMCL6758 jaccard_728
ENSP00000342691 ORTHOMCL6758 jaccard_728
600426: OMIM gene: E2F TRANSCRIPTION FACTOR 2; E2F2 Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000355249 ORTHOMCL650 jaccard_681
600427: OMIM gene: E2F TRANSCRIPTION FACTOR 3; E2F3 Gene map locus 6p22 (link from Ensembl BioMart) ENSP00000262904 ORTHOMCL650 jaccard_681
600428: OMIM gene: VAV2 ONCOGENE; VAV2 Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000344167 ORTHOMCL930 jaccard_1073
600429: OMIM gene: GLUCOSAMINYL (N-ACETYL) TRANSFERASE 2, I-BRANCHING ENZYME; GCNT2 Gene map locus 6p24-p23 (link from Ensembl BioMart) ENSP00000314844 ORTHOMCL14643 jaccard_349
ENSP00000265012 ORTHOMCL24418 jaccard_349
600431: OMIM gene: CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B Gene map locus 9p21 (link from Ensembl BioMart) ENSP00000344986
ENSP00000276925 ORTHOMCL15852 jaccard_11
600432: OMIM gene: CEREBELLIN 1 PRECURSOR; CBLN1 (link from Ensembl BioMart) ENSP00000219197 ORTHOMCL24534 jaccard_0
600433: OMIM gene: CEREBELLIN 2 PRECURSOR; CBLN2 Gene map locus 18q23 (link from Ensembl BioMart) ENSP00000269503 ORTHOMCL15457 jaccard_0
600434: OMIM gene: FATTY ACID-BINDING PROTEIN 4; FABP4 Gene map locus 8q21 (link from Ensembl BioMart) ENSP00000256104 ORTHOMCL9335 jaccard_242
600435: OMIM gene: CARDIOTROPHIN 1; CTF1 Gene map locus 16p11.2-p11.1 (link from Ensembl BioMart) ENSP00000279804 ORTHOMCL18302 jaccard_3546
600436: OMIM gene: GLUTATHIONE S-TRANSFERASE, THETA-1; GSTT1 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000248935 ORTHOMCL404 jaccard_110
600437: OMIM gene: GLUTATHIONE S-TRANSFERASE, THETA-2; GSTT2 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000290765 ORTHOMCL14587 jaccard_110
600438: OMIM gene: TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM Gene map locus 10q21 (link from Ensembl BioMart) ENSP00000320311 ORTHOMCL6177
600439: OMIM gene: SINGLE-STRANDED DNA-BINDING PROTEIN 1; SSBP1 Gene map locus 7q34 (link from Ensembl BioMart) ENSP00000265304 ORTHOMCL4062 jaccard_5288
600440: OMIM gene: ENDONUCLEASE G, MITOCHONDRIAL; ENDOG Gene map locus 9q34.1 (link from Ensembl BioMart) ENSP00000300491 ORTHOMCL5253 jaccard_1945
600441: OMIM gene: GROWTH ARREST-SPECIFIC 6; GAS6 Gene map locus 13q34 (link from Ensembl BioMart) ENSP00000331831 ORTHOMCL11411 jaccard_4672
ENSP00000349962 jaccard_4672
600442: OMIM gene: AQUAPORIN 5; AQP5 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000293599 ORTHOMCL18867 jaccard_122
600443: OMIM gene: GLUTAREDOXIN; GLRX Gene map locus 5q14 (link from Ensembl BioMart) ENSP00000237858 ORTHOMCL670 jaccard_265
600445: OMIM gene: ADENOSINE A3 RECEPTOR; ADORA3 Gene map locus 1p21-p13 (link from Ensembl BioMart) ENSP00000241356 ORTHOMCL18205 jaccard_19
ENSP00000235097 ORTHOMCL11975
600446: OMIM gene: ADENOSINE A2B RECEPTOR; ADORA2B Gene map locus 17p12-p11.2 (link from Ensembl BioMart) ENSP00000304501 ORTHOMCL10289 jaccard_19
600447: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 12; MAP3K12 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000267079 ORTHOMCL57 jaccard_574
600448: OMIM gene: PROTEIN KINASE C, THETA FORM; PRKCQ Gene map locus 10p15 (link from Ensembl BioMart) ENSP00000263125 ORTHOMCL10379 jaccard_29
ENSP00000349837 ORTHOMCL10379 jaccard_29
600449: OMIM gene: ALDO-KETO REDUCTASE FAMILY 1, MEMBER 1; AKR1C1 Gene map locus 10p15-p14 (link from Ensembl BioMart) ENSP00000324589 ORTHOMCL6290 jaccard_78
600450: OMIM gene: ALDO-KETO REDUCTASE FAMILY 1, MEMBER C2; AKR1C2 Gene map locus 10p15-p14 (link from Ensembl BioMart) ENSP00000307205 ORTHOMCL6290 jaccard_78
600451: OMIM gene: ALDO-KETO REDUCTASE FAMILY 1, MEMBER C4; AKR1C4 Gene map locus 10p15-p14 (link from Ensembl BioMart) ENSP00000263126 ORTHOMCL6290 jaccard_78
600453: OMIM gene: ZINC FINGER PROTEIN 147; ZNF147 Gene map locus 17q23.1 (link from Ensembl BioMart) ENSP00000323889 ORTHOMCL16207 jaccard_20
600454: OMIM gene: RIBOSOMAL PROTEIN S3; RPS3 Gene map locus 11q13.3-q13.5 (link from Ensembl BioMart) ENSP00000278572 ORTHOMCL3713 jaccard_2506
600456: OMIM gene: NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2 OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY, INCLUDED Gene map locus 9q22.1 (link from Ensembl BioMart) ENSP00000352906 ORTHOMCL24363 jaccard_3368
ENSP00000314586 ORTHOMCL5583 jaccard_2
ENSP00000306167 ORTHOMCL24363 jaccard_3368
ENSP00000277120 ORTHOMCL5583 jaccard_2
600462: OMIM phenotype: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA Gene map locus 12q24.33 (link from NCBI) ENSP00000324726 ORTHOMCL2422 jaccard_926
600463: OMIM gene: ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A3; ALDH1A3 Gene map locus 15q26 (link from Ensembl BioMart) ENSP00000332256 ORTHOMCL18863 jaccard_88
600464: OMIM gene: ADP-RIBOSYLATION FACTOR 6; ARF6 (link from Ensembl BioMart) ENSP00000298316 ORTHOMCL3879 jaccard_53