Human disease genes 601916-602039

601787-601915 --- 602040-602162

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
601916: OMIM gene: ARGININE-RICH, MUTATED IN EARLY STAGE TUMORS; ARMET Gene map locus 3p21.1 (link from Ensembl BioMart) ENSP00000273628 ORTHOMCL8602 jaccard_4423
601917: OMIM gene: ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B2; ALDH3B2 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000255084 jaccard_88
601918: OMIM gene: GROWTH/DIFFERENTIATION FACTOR 9; GDF9 (link from Ensembl BioMart) ENSP00000296875 ORTHOMCL16982
601919: OMIM gene: COAGULATION FACTOR II RECEPTOR-LIKE 2; F2RL2 Gene map locus 5q13 (link from Ensembl BioMart) ENSP00000296641 ORTHOMCL11660 jaccard_6
601920: OMIM gene: JAGGED 1; JAG1 DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON, INCLUDED Gene map locus 20p12 (link from Ensembl BioMart) ENSP00000254958 ORTHOMCL1923 jaccard_5
601922: OMIM gene: ANGIOPOIETIN 2; ANGPT2 Gene map locus 8p23 (link from Ensembl BioMart) ENSP00000314897 ORTHOMCL13101 jaccard_135
601924: OMIM gene: COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA COATOMER PROTEIN COMPLEX, INCLUDED; COPI, INCLUDED Gene map locus 1q23-q25 (link from Ensembl BioMart) ENSP00000241704 ORTHOMCL2970 jaccard_1149
601925: OMIM gene: RHO GDP-DISSOCIATION INHIBITOR ALPHA; ARHGDIA Gene map locus 17q25.3 (link from Ensembl BioMart) ENSP00000269321 ORTHOMCL3429 jaccard_1256
601926: OMIM gene: THYROID HORMONE-RESPONSIVE SPOT14, RAT, HOMOLOG OF; THRSP Gene map locus 11q13.5 (link from Ensembl BioMart) ENSP00000281030 ORTHOMCL20459 jaccard_3294
601928: OMIM gene: KERATIN, HAIR, BASIC, 6; KRTHB6 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000293525 ORTHOMCL2218 jaccard_0
601929: OMIM gene: ATPase, Ca(2+)-TRANSPORTING, UBIQUITOUS; ATP2A3 Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000301387 ORTHOMCL214 jaccard_30
ENSP00000353072 ORTHOMCL214 jaccard_30
601930: OMIM gene: BASONUCLIN 1; BNC1 Gene map locus 15q25.1 (link from Ensembl BioMart) ENSP00000307041 ORTHOMCL12406 jaccard_2229
601931: OMIM gene: BCL2-LIKE 2; BCL2L2 Gene map locus 14q11.2-q12 (link from Ensembl BioMart) ENSP00000250405 ORTHOMCL13648 jaccard_533
601933: OMIM gene: CRYPTOCHROME 1; CRY1 Gene map locus 12q23-q24.1 (link from Ensembl BioMart) ENSP00000008527 ORTHOMCL1432 jaccard_689
601934: OMIM gene: G PROTEIN PATHWAY SUPPRESSOR 1; GPS1 (link from Ensembl BioMart) ENSP00000302873 ORTHOMCL3847 jaccard_1280
ENSP00000347251 ORTHOMCL3847 jaccard_1280
601935: OMIM gene: G PROTEIN PATHWAY SUPPRESSOR 2; GPS2 (link from Ensembl BioMart) ENSP00000319371 ORTHOMCL8739 jaccard_5385
601936: OMIM gene: PRKC, APOPTOSIS, WT1, REGULATOR; PAWR Gene map locus 12q21 (link from Ensembl BioMart) ENSP00000328088 ORTHOMCL13490 jaccard_13091
601937: OMIM gene: NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3 Gene map locus 20q12 (link from Ensembl BioMart) ENSP00000262979 ORTHOMCL8339 jaccard_128
ENSP00000345671 ORTHOMCL8339 jaccard_128
601939: OMIM gene: PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 1; SRPK1 (link from Ensembl BioMart) ENSP00000339450 ORTHOMCL363 jaccard_95
ENSP00000354674 ORTHOMCL363 jaccard_95
601940: OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 4; SFRS4 (link from Ensembl BioMart) ENSP00000234982 ORTHOMCL8503 jaccard_0
601943: OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 9; SFRS9 (link from Ensembl BioMart) ENSP00000229390 ORTHOMCL16791 jaccard_0
601944: OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 6; SFRS6 (link from Ensembl BioMart) ENSP00000244020 ORTHOMCL2446 jaccard_0
601945: OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 8; SFRS8 (link from Ensembl BioMart) ENSP00000261674 ORTHOMCL4516
601947: OMIM gene: SRY-BOX 12; SOX12 Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000347646 ORTHOMCL5664 jaccard_2569
ENSP00000223096 ORTHOMCL1615 jaccard_226
601949: OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4 EPISODIC ATAXIA, TYPE 5, INCLUDED; EA5, INCLUDED Gene map locus 2q22-q23 (link from Ensembl BioMart) ENSP00000343563 ORTHOMCL2680 jaccard_377
601950: OMIM gene: ZINC FINGER PROTEIN, MULTITYPE 1; ZFPM1 Gene map locus 16q24.3 (link from Ensembl BioMart) ENSP00000326630 ORTHOMCL12878
601951: OMIM gene: CDC-LIKE KINASE 1; CLK1 Gene map locus 2q33 (link from Ensembl BioMart) ENSP00000326830 ORTHOMCL18883 jaccard_95
ENSP00000349935 ORTHOMCL17207 jaccard_8621
601953: OMIM gene: CYCLIN H; CCNH Gene map locus 5q13.3-q14 (link from Ensembl BioMart) ENSP00000256897 ORTHOMCL4825 jaccard_266
601954: OMIM phenotype: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G Gene map locus 17q12 (link from NCBI) ENSP00000312624 ORTHOMCL16899 jaccard_7822
601955: OMIM gene: CYCLIN-DEPENDENT KINASE 7; CDK7 Gene map locus 2p15-cen (link from Ensembl BioMart) ENSP00000256443 ORTHOMCL2908 jaccard_28
601956: OMIM gene: GDNF FAMILY RECEPTOR ALPHA-2; GFRA2 Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000306654 ORTHOMCL14948 jaccard_1190
601958: OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-3 SUBUNIT; CACNB3 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000301050 ORTHOMCL17177 jaccard_377
601959: OMIM gene: NEVER IN MITOSIS GENE A-RELATED KINASE 4; NEK4 Gene map locus 3p21.1 (link from Ensembl BioMart) ENSP00000233027 ORTHOMCL601
601960: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 20; CCL20 Gene map locus 2q33-q37 (link from Ensembl BioMart) ENSP00000351671 ORTHOMCL10265 jaccard_248
601961: OMIM gene: HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 1; HRMT1L1 Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000347906 ORTHOMCL9884 jaccard_364
601962: OMIM gene: TAP-BINDING PROTEIN; TAPBP Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000230255 ORTHOMCL12867 jaccard_5096
601963: OMIM gene: TETRATRICOPEPTIDE REPEAT DOMAIN 1; TTC1 Gene map locus 5q32-q33.2 (link from Ensembl BioMart) ENSP00000231238 ORTHOMCL3912 jaccard_5631
601964: OMIM gene: DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 7; DNAJC7 Gene map locus 17q11-q23 (link from Ensembl BioMart) ENSP00000313311 ORTHOMCL9726 jaccard_164
601965: OMIM gene: ENDOTHELIAL DIFFERENTIATION GENE 3; EDG3 Gene map locus 9q22.1-q22.2 (link from Ensembl BioMart) ENSP00000350878 ORTHOMCL16947 jaccard_19
601966: OMIM gene: REGULATORY SOLUTE CARRIER PROTEIN, FAMILY 1, MEMBER 1; RSC1A1 Gene map locus 1p36.1 (link from Ensembl BioMart) ENSP00000341963 ORTHOMCL24036 jaccard_14184
601967: OMIM gene: WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7B; WNT7B Gene map locus 22q13 (link from Ensembl BioMart) ENSP00000341032 ORTHOMCL12450 jaccard_175
601968: OMIM gene: WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2B; WNT2B Gene map locus 1p13 (link from Ensembl BioMart) ENSP00000256639 ORTHOMCL10043 jaccard_175
601969: OMIM gene: DELETED IN MALIGNANT BRAIN TUMORS 1; DMBT1 Gene map locus 10q25.3-q26.1 (link from Ensembl BioMart) ENSP00000339752 ORTHOMCL354 jaccard_186
ENSP00000331522 ORTHOMCL354 jaccard_186
ENSP00000342210 ORTHOMCL354 jaccard_186
ENSP00000342500 ORTHOMCL354 jaccard_186
ENSP00000343175 ORTHOMCL354 jaccard_186
ENSP00000327747 ORTHOMCL354
ENSP00000345836 ORTHOMCL354
601970: OMIM gene: VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 2; VIPR2 Gene map locus 7q36.3 (link from Ensembl BioMart) ENSP00000262178 ORTHOMCL22141 jaccard_59
601972: OMIM gene: RAR-RELATED ORPHAN RECEPTOR B; RORB Gene map locus 9q22 (link from Ensembl BioMart) ENSP00000355068 ORTHOMCL626 jaccard_18
601973: OMIM gene: RETINOIC ACID RECEPTOR RESPONDER 2; RARRES2 (link from Ensembl BioMart) ENSP00000223271 ORTHOMCL15879 jaccard_7950
601974: OMIM gene: ENDOTHELIAL DIFFERENTIATION GENE 1; EDG1 (link from Ensembl BioMart) ENSP00000336689 ORTHOMCL12311 jaccard_19
ENSP00000305416 ORTHOMCL12311 jaccard_19
601975: OMIM gene: PLAKOPHILIN 1; PKP1 Gene map locus 1q32 (link from Ensembl BioMart) ENSP00000263946 ORTHOMCL14714 jaccard_379
ENSP00000295597 ORTHOMCL14714 jaccard_379
601978: OMIM gene: SIGMA RECEPTOR, TYPE 1 (link from Ensembl BioMart) ENSP00000277009 ORTHOMCL23027 jaccard_3642
ENSP00000353935 ORTHOMCL6771 jaccard_3642
ENSP00000277010 ORTHOMCL6771 jaccard_3642
601980: OMIM gene: LIPASE, GASTRIC; LIPF (link from Ensembl BioMart) ENSP00000238983 ORTHOMCL173 jaccard_406
601981: OMIM gene: RIBONUCLEASE A FAMILY, 6; RNASE6 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000302046 ORTHOMCL18474 jaccard_788
601982: OMIM gene: 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1 Gene map locus 3p26.2 (link from Ensembl BioMart) ENSP00000305584 ORTHOMCL2502 jaccard_2324
ENSP00000303132 ORTHOMCL2502 jaccard_2324
ENSP00000342851
ENSP00000305527 ORTHOMCL2502 jaccard_2324
ENSP00000344899 jaccard_2324
ENSP00000306561 ORTHOMCL2502 jaccard_2324
ENSP00000352791 ORTHOMCL2502 jaccard_2324
ENSP00000345520 ORTHOMCL8383 jaccard_1742
601983: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 1; MAP4K1 (link from Ensembl BioMart) ENSP00000221409 ORTHOMCL10508 jaccard_149
601984: OMIM gene: NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4 PTC3 CHIMERIC ONCOGENE, INCLUDED Gene map locus 10q11.2 (link from Ensembl BioMart) ENSP00000344552 jaccard_3316
ENSP00000351902 ORTHOMCL9532 jaccard_3316
601985: OMIM gene: COILED-COIL DOMAIN-CONTAINING 6; CCDC6 PTC1 CHIMERIC ONCOGENE, INCLUDED Gene map locus 10q21 (link from Ensembl BioMart) ENSP00000353445 ORTHOMCL3282 jaccard_9667
ENSP00000263102 ORTHOMCL3282 jaccard_9667
601987: OMIM gene: CARNITINE PALMITOYLTRANSFERASE I, MUSCLE; CPT1B Gene map locus 22qter (link from Ensembl BioMart) ENSP00000353945 ORTHOMCL2479 jaccard_244
601988: OMIM gene: LIM DOMAIN KINASE 2; LIMK2 (link from Ensembl BioMart) ENSP00000339916 ORTHOMCL2001 jaccard_3056
ENSP00000330470 ORTHOMCL2001 jaccard_3056
ENSP00000332687 ORTHOMCL2001 jaccard_3056
601989: OMIM gene: S100 CALCIUM-BINDING PROTEIN A13; S100A13 Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000344822 ORTHOMCL24915 jaccard_302
601990: OMIM gene: TUMOR PROTEIN p73; TP73 Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000160698 ORTHOMCL8574 jaccard_1112
601991: OMIM gene: NEUROONCOLOGIC VENTRAL ANTIGEN 2; NOVA2 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000263257 ORTHOMCL802 jaccard_100
601993: OMIM gene: NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2 (link from Ensembl BioMart) ENSP00000267974 ORTHOMCL9549 jaccard_128
601995: OMIM gene: TENASCIN R; TNR Gene map locus 1q24 (link from Ensembl BioMart) ENSP00000263525 ORTHOMCL477 jaccard_2
601997: OMIM gene: BH3-INTERACTING DOMAIN DEATH AGONIST; BID Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000340961 ORTHOMCL12585 jaccard_6250
ENSP00000338660 jaccard_6250
ENSP00000318822 ORTHOMCL12585 jaccard_6250
601998: OMIM gene: ESTROGEN-RELATED RECEPTOR, ALPHA; ESRRA Gene map locus 11q12 (link from Ensembl BioMart) ENSP00000000442 ORTHOMCL18439 jaccard_18
601999: OMIM gene: LIM HOMEOBOX GENE 1; LHX1 Gene map locus 11p13-p12 (link from Ensembl BioMart) ENSP00000254457 ORTHOMCL9908 jaccard_223
602000: OMIM phenotype: POLYMERASE I, RNA, POLYPEPTIDE B (link from Ensembl BioMart) ENSP00000334589 ORTHOMCL4851 jaccard_1084
602001: OMIM gene: NEUROPEPTIDE Y RECEPTOR Y5; NPY5R Gene map locus 4q31-q32 (link from Ensembl BioMart) ENSP00000339377 ORTHOMCL18581 jaccard_6
602002: OMIM gene: ZYXIN; ZYX Gene map locus 7q34-q35 (link from Ensembl BioMart) ENSP00000324422 ORTHOMCL2727 jaccard_37
602003: OMIM gene: LYMPHOID-RESTRICTED MEMBRANE PROTEIN; LRMP (link from Ensembl BioMart) ENSP00000354805 ORTHOMCL9607 jaccard_5624
ENSP00000346442 ORTHOMCL9607 jaccard_5624
602004: OMIM gene: PROTEIN-TYROSINE KINASE 6; PTK6 (link from Ensembl BioMart) ENSP00000217185 ORTHOMCL3976 jaccard_54
602005: OMIM gene: SORTILIN-RELATED RECEPTOR; SORL1 Gene map locus 11q23.2-q24.2 (link from Ensembl BioMart) ENSP00000260197 ORTHOMCL874 jaccard_8641
602006: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 2; MAPKAPK2 (link from Ensembl BioMart) ENSP00000341011 jaccard_4465
ENSP00000294981 ORTHOMCL2965 jaccard_13
602007: OMIM gene: V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOG-LIKE; CRKL Gene map locus 22q11 (link from Ensembl BioMart) ENSP00000346300 ORTHOMCL3996 jaccard_219
602008: OMIM gene: KARYOPHERIN BETA-3; KPNB3 (link from Ensembl BioMart) ENSP00000261574 ORTHOMCL1808 jaccard_383
ENSP00000350219 ORTHOMCL1808 jaccard_383
602009: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT VIa, POLYPEPTIDE 2; COX6A2 (link from Ensembl BioMart) ENSP00000287490 ORTHOMCL14960 jaccard_2381
602010: OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 11; SFRS11 (link from Ensembl BioMart) ENSP00000235399 ORTHOMCL9411 jaccard_0
602012: OMIM gene: ECTO NUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 2; ENTPD2 Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000347213 ORTHOMCL5610 jaccard_370
ENSP00000312494 jaccard_370
602013: OMIM gene: POLYMERASE II, RNA, SUBUNIT G; POLR2G Gene map locus 11q13.1 (link from Ensembl BioMart) ENSP00000301788 ORTHOMCL4257 jaccard_1111
602014: OMIM phenotype: HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG HYPOMAGNESEMIA 1, INTESTINAL, INCLUDED; HOMG1, INCLUDED Gene map locus 9q22 (link from NCBI) ENSP00000354006 ORTHOMCL224 jaccard_183
602015: OMIM gene: OUTER DENSE FIBER OF SPERM TAILS 2; ODF2 Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000342581 ORTHOMCL8454 jaccard_3
ENSP00000259333 ORTHOMCL20894 jaccard_3
ENSP00000307781 ORTHOMCL8454 jaccard_3
602016: OMIM gene: KRUPPEL-LIKE FACTOR 2; KLF2 Gene map locus 19p13.1 (link from Ensembl BioMart) ENSP00000248071 ORTHOMCL17352 jaccard_1128
602017: OMIM gene: PROTEASOME SUBUNIT, BETA-TYPE, 1; PSMB1 Gene map locus 7p13-p12 (link from Ensembl BioMart) ENSP00000262193 ORTHOMCL3880 jaccard_61
602018: OMIM gene: NEURTURIN; NRTN Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000302648 ORTHOMCL24161 jaccard_2180
602019: OMIM gene: SQUALENE EPOXIDASE; SQLE Gene map locus 8q24.1 (link from Ensembl BioMart) ENSP00000265896 ORTHOMCL2308 jaccard_751
602020: OMIM gene: V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN G; MAFG Gene map locus 17q25 (link from Ensembl BioMart) ENSP00000350369 ORTHOMCL13765 jaccard_2337
602021: OMIM gene: PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A Gene map locus 12q15-q21.2 (link from Ensembl BioMart) ENSP00000261207 ORTHOMCL1287 jaccard_11
602022: OMIM gene: MAL-LIKE; MALL Gene map locus 2q13 (link from Ensembl BioMart) ENSP00000272462 ORTHOMCL19243 jaccard_385
602023: OMIM gene: CHLORIDE CHANNEL, KIDNEY, B; CLCNKB Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000349974 ORTHOMCL10936 jaccard_243
602024: OMIM gene: CHLORIDE CHANNEL, KIDNEY, A; CLCNKA Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000332771 ORTHOMCL10936 jaccard_243
602026: OMIM gene: PHYTANOYL-CoA HYDROXYLASE; PHYH Gene map locus 10pter-p11.2 (link from Ensembl BioMart) ENSP00000263038 ORTHOMCL12296 jaccard_2080
602027: OMIM gene: TELOMERIC REPEAT-BINDING FACTOR 2; TERF2 Gene map locus 16q22.1 (link from Ensembl BioMart) ENSP00000254942 ORTHOMCL13527 jaccard_4228
602030: OMIM gene: FUCOSYLTRANSFERASE 7; FUT7 Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000318142 ORTHOMCL8554 jaccard_583
602031: OMIM gene: PROTEIN GERANYLGERANYLTRANSFERASE TYPE I, BETA SUBUNIT; PGGT1B (link from Ensembl BioMart) ENSP00000296642 ORTHOMCL9245 jaccard_1030
602033: OMIM gene: ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 1; EML1 Gene map locus 14q32 (link from Ensembl BioMart) ENSP00000262233 ORTHOMCL2067 jaccard_344
ENSP00000327384 ORTHOMCL2067 jaccard_344
ENSP00000334314 jaccard_344
602034: OMIM gene: CORTICOTROPIN-RELEASING HORMONE RECEPTOR 2; CRHR2 Gene map locus 7p21-p15 (link from Ensembl BioMart) ENSP00000222836 ORTHOMCL1754 jaccard_59
602035: OMIM gene: PROTEIN PHOSPHATASE 4, CATALYTIC SUBUNIT; PPP4C Gene map locus 16p12-p11 (link from Ensembl BioMart) ENSP00000279387 ORTHOMCL2810 jaccard_68
602037: OMIM gene: RAS HOMOLOG GENE FAMILY, MEMBER H; RHOH Gene map locus 4p13 (link from Ensembl BioMart) ENSP00000303689 ORTHOMCL15483 jaccard_8
602038: OMIM gene: DUAL-SPECIFICITY PHOSPHATASE 8; DUSP8 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000329539 ORTHOMCL15512 jaccard_2131
602039: OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 10; EIF3S10 Gene map locus 10q26 (link from Ensembl BioMart) ENSP00000263141 ORTHOMCL4217 jaccard_6103