Human disease genes 603180-603304

603066-603179 --- 603305-603428

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
603180: OMIM gene: EXPORTIN, tRNA; XPOT (link from Ensembl BioMart) ENSP00000327821 ORTHOMCL6351 jaccard_4951
603181: OMIM gene: INTERLEUKIN ENHANCER-BINDING FACTOR 2; ILF2 (link from Ensembl BioMart) ENSP00000355011 ORTHOMCL8005 jaccard_1436
ENSP00000271939 ORTHOMCL8005 jaccard_1436
603182: OMIM gene: INTERLEUKIN ENHANCER-BINDING FACTOR 3; ILF3 Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000315205 ORTHOMCL9017 jaccard_1436
ENSP00000250241 ORTHOMCL9017 jaccard_1436
603183: OMIM gene: RETICULON 2; RTN2 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000245923 ORTHOMCL8100 jaccard_8209
ENSP00000345127 ORTHOMCL8100 jaccard_8209
603184: OMIM gene: CYCLIN-DEPENDENT KINASE 8; CDK8 Gene map locus 13q12 (link from Ensembl BioMart) ENSP00000255316 ORTHOMCL4599 jaccard_28
603185: OMIM gene: NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP (link from Ensembl BioMart) ENSP00000345532 ORTHOMCL3052 jaccard_7150
ENSP00000255120 ORTHOMCL3052 jaccard_7150
ENSP00000255121 ORTHOMCL7399 jaccard_2799
603186: OMIM gene: DEATH-ASSOCIATED PROTEIN 6; DAXX Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000266000 ORTHOMCL6856
603187: OMIM gene: CENTRIN 1; CETN1 Gene map locus Chr.18 (link from Ensembl BioMart) ENSP00000319052 ORTHOMCL2801 jaccard_16
603189: OMIM gene: SYNTAXIN 5A; STX5A Gene map locus 11q12.3 (link from Ensembl BioMart) ENSP00000294179 ORTHOMCL1838 jaccard_145
603190: OMIM gene: HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 3; HRMT1L3 (link from Ensembl BioMart) ENSP00000331879 ORTHOMCL5661 jaccard_364
603191: OMIM gene: CHROMOSOME 21 OPEN READING FRAME 2; C21ORF2 Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000317302 ORTHOMCL4490 jaccard_3381
603192: OMIM gene: ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT C, ISOFORM 1; ATP5G1 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000348205 ORTHOMCL464 jaccard_710
603193: OMIM gene: ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT C, ISOFORM 2; ATP5G2 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000340315 ORTHOMCL464 jaccard_710
ENSP00000257849 ORTHOMCL464 jaccard_710
603195: OMIM gene: G PROTEIN-COUPLED RECEPTOR 32; GPR32 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000270590 ORTHOMCL16578 jaccard_6
603196: OMIM gene: COCHLIN; COCH Gene map locus 14q12-q13 (link from Ensembl BioMart) ENSP00000216361 ORTHOMCL10455 jaccard_2
603197: OMIM gene: NEUROPATHY TARGET ESTERASE Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000221249 ORTHOMCL1107 jaccard_1428
603198: OMIM gene: RNA POLYMERASE I AND TRANSCRIPT RELEASE FACTOR; PTRF (link from Ensembl BioMart) ENSP00000349541 ORTHOMCL16255 jaccard_3499
603199: OMIM gene: INAD, DROSOPHILA, HOMOLOG OF (link from Ensembl BioMart) ENSP00000355371 ORTHOMCL923 jaccard_33
ENSP00000307496 ORTHOMCL923 jaccard_33
ENSP00000326199 ORTHOMCL923 jaccard_33
ENSP00000255202 ORTHOMCL923 jaccard_33
603200: OMIM gene: REGULATORY FACTOR X, ANKYRIN REPEAT-CONTAINING; RFXANK Gene map locus 19p12 (link from Ensembl BioMart) ENSP00000305071 ORTHOMCL7288 jaccard_11
ENSP00000262804 jaccard_11
603201: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11; ABCB11 Gene map locus 2q24 (link from Ensembl BioMart) ENSP00000263817 ORTHOMCL151 jaccard_44
603202: OMIM gene: LACTASE; LCT Gene map locus 2q21 (link from Ensembl BioMart) ENSP00000264162 ORTHOMCL89 jaccard_204
603203: OMIM gene: CYCLIN G2; CCNG2 (link from Ensembl BioMart) ENSP00000315743 ORTHOMCL14608 jaccard_129
603205: OMIM gene: MICRORCHIDIA, MOUSE, HOMOLOG OF; MORC Gene map locus 3q13 (link from Ensembl BioMart) ENSP00000232603 ORTHOMCL21547 jaccard_1075
603207: OMIM gene: VTI1, S. CEREVISIAE, HOMOLOG OF, B; VTI1B (link from Ensembl BioMart) ENSP00000216456 ORTHOMCL15012 jaccard_862
603208: OMIM gene: POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13; KCNJ13 Gene map locus 2q37 (link from Ensembl BioMart) ENSP00000233826 ORTHOMCL12713 jaccard_224
603211: OMIM gene: JERKY, MOUSE, HOMOLOG-LIKE; JRKL Gene map locus 11q21 (link from Ensembl BioMart) ENSP00000333350 jaccard_1944
603212: OMIM gene: BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2 Gene map locus 3q21-q25 (link from Ensembl BioMart) ENSP00000304987 ORTHOMCL13715 jaccard_0
603213: OMIM gene: KINESIN-LIKE 4; KNSL4 Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000160827 ORTHOMCL10656 jaccard_38
603214: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4; ABCD4 Gene map locus 14q24.3 (link from Ensembl BioMart) ENSP00000349396 ORTHOMCL8936 jaccard_534
ENSP00000352473 ORTHOMCL8936 jaccard_534
ENSP00000298816 ORTHOMCL25069 jaccard_534
603215: OMIM gene: N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000263354 ORTHOMCL1538 jaccard_1104
603216: OMIM gene: SOLUBLE NSF-ATTACHMENT PROTEIN, GAMMA (link from Ensembl BioMart) ENSP00000324628 ORTHOMCL6178 jaccard_1104
603217: OMIM gene: SYNTAXIN 7; STX7 Gene map locus 6q23.2 (link from Ensembl BioMart) ENSP00000309600 ORTHOMCL1962 jaccard_145
603218: OMIM phenotype: HUNTINGTON DISEASE-LIKE 1; HDL1 Gene map locus 20pter-p12 (link from NCBI) ENSP00000306540 ORTHOMCL20988
603219: OMIM gene: POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 2; KCNK2 Gene map locus 1q41 (link from Ensembl BioMart) ENSP00000264101 ORTHOMCL10973 jaccard_146
603220: OMIM gene: POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 3; KCNK3 Gene map locus 2p23 (link from Ensembl BioMart) ENSP00000306275 ORTHOMCL4044 jaccard_146
603231: OMIM gene: ZINC FINGER PROTEIN 200; ZNF200 Gene map locus 16p13 (link from Ensembl BioMart) ENSP00000008311
603232: OMIM gene: OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY F, MEMBER 1; OR1F1 Gene map locus 16p13 (link from Ensembl BioMart) ENSP00000305424 ORTHOMCL20356 jaccard_4
603233: OMIM phenotype: PSEUDOHYPOPARATHYROIDISM, TYPE IB Gene map locus 20q13.2 (link from NCBI) ENSP00000302237 ORTHOMCL12674
ENSP00000323571 ORTHOMCL25264 jaccard_10911
603234: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6 Gene map locus 16p13.1 (link from Ensembl BioMart) ENSP00000205557 ORTHOMCL102 jaccard_44
603235: OMIM gene: SELENOPROTEIN W, 1; SEPW1 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000323504 ORTHOMCL4579 jaccard_2747
603236: OMIM gene: MEVALONATE PYROPHOSPHATE DECARBOXYLASE; MVD (link from Ensembl BioMart) ENSP00000301012 ORTHOMCL4373 jaccard_3284
603237: OMIM gene: ERYTHROCYTE MEMBRANE PROTEIN 4.1-LIKE 2; EPB41L2 Gene map locus 6q22-q23 (link from Ensembl BioMart) ENSP00000338481 ORTHOMCL226 jaccard_63
603240: OMIM gene: SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE-ANTISENSE; SLC22A1LS Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000319906
603241: OMIM gene: LIMBIC SYSTEM-ASSOCIATED MEMBRANE PROTEIN; LSAMP Gene map locus 3q13.2-q21 (link from Ensembl BioMart) ENSP00000328455 ORTHOMCL2319 jaccard_806
603242: OMIM gene: C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER B; CLEC2B Gene map locus 12p13-p12 (link from Ensembl BioMart) ENSP00000228438 jaccard_23
603243: OMIM gene: AUTOCRINE MOTILITY FACTOR RECEPTOR; AMFR Gene map locus 16q21 (link from Ensembl BioMart) ENSP00000313137
ENSP00000290649 ORTHOMCL12431 jaccard_1305
603244: OMIM gene: HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 1; HS3ST1 (link from Ensembl BioMart) ENSP00000002596 ORTHOMCL13410 jaccard_883
603245: OMIM gene: NK2, DROSOPHILA, HOMOLOG OF, H; NKX2H Gene map locus 14q12-q13 (link from Ensembl BioMart) ENSP00000258829 ORTHOMCL24919
603246: OMIM gene: GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 1; GTF3C1 (link from Ensembl BioMart) ENSP00000170629 ORTHOMCL5961 jaccard_6022
603247: OMIM gene: SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 2; SLC27A2 Gene map locus 15q21.2 (link from Ensembl BioMart) ENSP00000267842 ORTHOMCL11420 jaccard_47
603248: OMIM gene: BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B Gene map locus 4q23-q24 (link from Ensembl BioMart) ENSP00000264568 ORTHOMCL1632 jaccard_285
603249: OMIM gene: NIPSNAP, C. ELEGANS, HOMOLOG OF, 1; NIPSNAP1 Gene map locus 22q12 (link from Ensembl BioMart) ENSP00000216121 ORTHOMCL710 jaccard_1647
603250: OMIM gene: FORKHEAD BOX F2; FOXF2 Gene map locus 6p25.3 (link from Ensembl BioMart) ENSP00000259806 ORTHOMCL6084 jaccard_297
603251: OMIM gene: CYCLIN-DEPENDENT KINASE 9; CDK9 Gene map locus 9q34.1 (link from Ensembl BioMart) ENSP00000259329 ORTHOMCL6437 jaccard_28
603252: OMIM gene: FORKHEAD BOX L1; FOXL1 (link from Ensembl BioMart) ENSP00000326272 ORTHOMCL13004 jaccard_297
603253: OMIM gene: CYSTATIN 7; CST7 (link from Ensembl BioMart) ENSP00000171620 ORTHOMCL22896 jaccard_839
603254: OMIM gene: SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 4; SMARCA4 (link from Ensembl BioMart) ENSP00000343896 ORTHOMCL586 jaccard_48
603255: OMIM gene: NUCLEAR TRANSCRIPTION FACTOR, X BOX-BINDING, 1; NFX1 (link from Ensembl BioMart) ENSP00000263220 ORTHOMCL2207 jaccard_2372
ENSP00000353576 ORTHOMCL2207 jaccard_2372
ENSP00000317695 ORTHOMCL2207 jaccard_2372
ENSP00000345813 ORTHOMCL2207 jaccard_2372
603256: OMIM gene: LEUCINE-RICH REPEAT IN FLII-INTERACTING PROTEIN 1; LRRFIP1 (link from Ensembl BioMart) ENSP00000244815 ORTHOMCL12500 jaccard_10042
603257: OMIM gene: SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 3; SMARCA3 Gene map locus 3q25.1-q26.1 (link from Ensembl BioMart) ENSP00000308944 ORTHOMCL3413 jaccard_48
603258: OMIM gene: INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF, BETA; IKBKB Gene map locus 8p11.2 (link from Ensembl BioMart) ENSP00000339151 ORTHOMCL9807 jaccard_1103
603260: OMIM gene: BarH-LIKE HOMEOBOX GENE 1; BARX1 Gene map locus 9q12 (link from Ensembl BioMart) ENSP00000253968 ORTHOMCL16233 jaccard_13766
603261: OMIM gene: PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, BETA; PIP5K2B (link from Ensembl BioMart) ENSP00000269554 ORTHOMCL20897 jaccard_384
ENSP00000311210 jaccard_384
603262: OMIM gene: 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 1; PAPSS1 Gene map locus 4q24 (link from Ensembl BioMart) ENSP00000265174 ORTHOMCL570 jaccard_1252
603263: OMIM gene: CARBONIC ANHYDRASE XII; CA12 Gene map locus 15q22 (link from Ensembl BioMart) ENSP00000343088 ORTHOMCL10179 jaccard_171
ENSP00000178638 ORTHOMCL10179 jaccard_171
603264: OMIM gene: RHOMBOID-LIKE 1; RHBDL1 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000219551 jaccard_1227
603265: OMIM gene: AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 3A; ARID3A Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000263620 ORTHOMCL8087 jaccard_4021
603267: OMIM gene: SMALL OPTIC LOBES, DROSOPHILA, HOMOLOG OF; SOLH Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000219611 ORTHOMCL3146 jaccard_2581
603268: OMIM gene: N-DEACETYLASE/N-SULFOTRANSFERASE 2; NDST2 Gene map locus 10q22 (link from Ensembl BioMart) ENSP00000299641 ORTHOMCL660 jaccard_933
ENSP00000310657 jaccard_10580
603270: OMIM gene: ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT B, ISOFORM 1; ATP5F1 (link from Ensembl BioMart) ENSP00000235094 ORTHOMCL5062 jaccard_3514
603271: OMIM gene: PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 21; PTPN21 (link from Ensembl BioMart) ENSP00000330276 ORTHOMCL6378 jaccard_2440
603272: OMIM gene: CONNECTOR ENHANCER OF KSR, DROSOPHILA, HOMOLOG OF (link from Ensembl BioMart) ENSP00000270798 ORTHOMCL11699 jaccard_1399
ENSP00000354609 ORTHOMCL11699 jaccard_1399
603273: OMIM gene: TUMOR PROTEIN p73-LIKE; TP73L Gene map locus 3q27 (link from Ensembl BioMart) ENSP00000264731 ORTHOMCL9548 jaccard_1112
603275: OMIM gene: PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, ALPHA; PIP5K1A Gene map locus 1q22-q24 (link from Ensembl BioMart) ENSP00000271663 ORTHOMCL273 jaccard_384
ENSP00000348080 ORTHOMCL273 jaccard_384
ENSP00000271665 ORTHOMCL273 jaccard_384
603276: OMIM gene: REGULATOR OF G PROTEIN SIGNALING 5; RGS5 Gene map locus 1q23 (link from Ensembl BioMart) ENSP00000319308 ORTHOMCL10175 jaccard_202
603277: OMIM gene: CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 4; CHD4 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000349508 ORTHOMCL295 jaccard_48
603278: OMIM phenotype: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 Gene map locus 19q13 (link from NCBI) ENSP00000252699 ORTHOMCL1190 jaccard_3
603281: OMIM gene: 2-PRIME,5-PRIME-@OLIGOADENYLATE SYNTHETASE-LIKE; OASL Gene map locus 12q24.2 (link from Ensembl BioMart) ENSP00000257570 ORTHOMCL18387 jaccard_1083
ENSP00000341125 jaccard_1083
603283: OMIM gene: TRIADIN; TRDN Gene map locus 6q22-q23 (link from Ensembl BioMart) ENSP00000354307 ORTHOMCL3255 jaccard_8631
603284: OMIM phenotype: CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2 Gene map locus 7p13 (link from NCBI) ENSP00000258781 ORTHOMCL15833 jaccard_4764
603285: OMIM phenotype: CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3 Gene map locus 3q26.1 (link from NCBI) ENSP00000338141 ORTHOMCL6335 jaccard_3821
603286: OMIM gene: KISS1 METASTASIS SUPPRESSOR; KISS1 METASTIN, INCLUDED Gene map locus 1q32 (link from Ensembl BioMart) ENSP00000307650
603287: OMIM gene: PYRIDOXINE-5-PRIME-PHOSPHATE OXIDASE; PNPO (link from Ensembl BioMart) ENSP00000225573 ORTHOMCL1350 jaccard_2884
603288: OMIM gene: KERATOCAN; KERA Gene map locus 12q22 (link from Ensembl BioMart) ENSP00000266719 ORTHOMCL12768 jaccard_7
603289: OMIM gene: DEATH-ASSOCIATED PROTEIN KINASE 3; DAPK3 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000301264 ORTHOMCL15664 jaccard_13
603290: OMIM gene: SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 2; SHANK2 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000294018 ORTHOMCL8537 jaccard_1334
ENSP00000349694
603291: OMIM gene: BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 1; BNIP1 (link from Ensembl BioMart) ENSP00000239215 ORTHOMCL4969 jaccard_3375
ENSP00000231668 ORTHOMCL4969 jaccard_3375
ENSP00000239214 jaccard_3375
603292: OMIM gene: BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 2; BNIP2 (link from Ensembl BioMart) ENSP00000267859 ORTHOMCL11892 jaccard_1321
603293: OMIM gene: BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3; BNIP3 (link from Ensembl BioMart) ENSP00000346074 ORTHOMCL15875 jaccard_2302
603294: OMIM gene: MINICHROMOSOME MAINTENANCE 3-ASSOCIATED PROTEIN; MCM3AP Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000291688 ORTHOMCL6416 jaccard_4882
603295: OMIM gene: MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 9; SMAD9 Gene map locus 13q12-q14 (link from Ensembl BioMart) ENSP00000239885 ORTHOMCL15826 jaccard_355
ENSP00000239886 ORTHOMCL23237 jaccard_355
603296: OMIM gene: MEK PARTNER 1 (link from Ensembl BioMart) ENSP00000226522 ORTHOMCL11657 jaccard_6481
603297: OMIM gene: DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DYNC2H1 Gene map locus 11q13.5 (link from Ensembl BioMart) ENSP00000334021 ORTHOMCL9640 jaccard_6824
603300: OMIM gene: TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 2; TNFAIP2 Gene map locus 14q32 (link from Ensembl BioMart) ENSP00000332326 ORTHOMCL16855 jaccard_1412
603301: OMIM gene: TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE 2; TIEG2 (link from Ensembl BioMart) ENSP00000307023 ORTHOMCL17137 jaccard_7162
603302: OMIM gene: ADENYLATE CYCLASE 9; ADCY9 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000294016 ORTHOMCL5782 jaccard_200
603303: OMIM gene: TRF1-INTERACTING, ANKYRIN-RELATED ADP-RIBOSE POLYMERASE; TNKS Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000311579 ORTHOMCL6508 jaccard_11
603304: OMIM gene: INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 2; IRAK2 (link from Ensembl BioMart) ENSP00000256458 ORTHOMCL11043 jaccard_3119