Human disease genes 601265-601411

601124-601263 --- 601414-601543

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
601265: OMIM gene: NODAL, MOUSE, HOMOLOG OF; NODAL Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000287139 ORTHOMCL8147 jaccard_130
601266: OMIM gene: dUTP PYROPHOSPHATASE; DUT Gene map locus 15q15-q21.1 (link from Ensembl BioMart) ENSP00000249783 ORTHOMCL3374 jaccard_2471
601267: OMIM gene: CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2 CCR2A, INCLUDED; CKR2A, INCLUDED Gene map locus 3p21 (link from Ensembl BioMart) ENSP00000292301 ORTHOMCL21218 jaccard_6
601268: OMIM gene: CHEMOKINE, CC MOTIF, RECEPTOR 3; CCR3 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000350003 ORTHOMCL13087 jaccard_6
601269: OMIM gene: COMPLEMENT COMPONENT C1q-BINDING PROTEIN; C1QBP Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000225698 ORTHOMCL9987 jaccard_6220
601270: OMIM gene: CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 3; CYP4F3 Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000011989 ORTHOMCL1143 jaccard_9
601271: OMIM gene: GUANYLATE CYCLASE ACTIVATOR 2B; GUCA2B Gene map locus 1p34-p33 (link from Ensembl BioMart) ENSP00000234619 ORTHOMCL19643 jaccard_6074
601272: OMIM gene: SORTING NEXIN 1; SNX1 SORTING NEXIN 1A, INCLUDED; SNX1A, INCLUDED Gene map locus 15q22.3 (link from Ensembl BioMart) ENSP00000326668 ORTHOMCL1860 jaccard_283
ENSP00000261889 ORTHOMCL1860 jaccard_283
601273: OMIM gene: CLATHRIN, HEAVY POLYPEPTIDE-LIKE 1; CLTCL1 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000352159 ORTHOMCL1224 jaccard_1869
ENSP00000263200 ORTHOMCL1224 jaccard_1869
ENSP00000337902 ORTHOMCL1224 jaccard_1869
601274: OMIM phenotype: LEUKOTRIENE B4 12-HYDROXYDEHYDROGENASE (link from Ensembl BioMart) ENSP00000311572 ORTHOMCL1123 jaccard_80
ENSP00000238248 ORTHOMCL1123 jaccard_80
601275: OMIM gene: GLYCOPROTEIN M6A; GPM6A Gene map locus 4q34 (link from Ensembl BioMart) ENSP00000280187 ORTHOMCL4809 jaccard_981
601276: OMIM phenotype: ZINC FINGER PROTEIN 177; ZNF177 (link from Ensembl BioMart) ENSP00000341497
601277: OMIM phenotype: ICHTHYOSIS, LAMELLAR, 2; LI2 Gene map locus 2q34 (link from NCBI) ENSP00000272895 ORTHOMCL110 jaccard_161
601278: OMIM gene: FSHD GENE 1; FRG1 Gene map locus 4q35 (link from Ensembl BioMart) ENSP00000226798 ORTHOMCL11401 jaccard_5592
601279: OMIM gene: DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6 Gene map locus 22q11 (link from Ensembl BioMart) ENSP00000331681 ORTHOMCL8990 jaccard_4907
601280: OMIM gene: MAB21, C. ELEGANS, HOMOLOG-LIKE 1; MAB21L1 Gene map locus 13q13 (link from Ensembl BioMart) ENSP00000327286 ORTHOMCL3606 jaccard_1498
601281: OMIM gene: SEMAPHORIN 3B; SEMA3B Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000314487 ORTHOMCL4697 jaccard_106
601282: OMIM gene: PLECTIN 1; PLEC1 Gene map locus 8q24 (link from Ensembl BioMart) ENSP00000348702 ORTHOMCL82 jaccard_3
ENSP00000346602 ORTHOMCL82 jaccard_3
ENSP00000349868 ORTHOMCL82 jaccard_3
ENSP00000323856 ORTHOMCL82 jaccard_3
ENSP00000347044 ORTHOMCL82 jaccard_3
ENSP00000350277 ORTHOMCL82 jaccard_3
ENSP00000344848 ORTHOMCL82 jaccard_3
601283: OMIM phenotype: DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1 Gene map locus 2q37.3 (link from NCBI) ENSP00000270364
ENSP00000270362 ORTHOMCL12350 jaccard_213
ENSP00000270361 ORTHOMCL11077 jaccard_213
ENSP00000289381
601284: OMIM gene: ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1 Gene map locus 12q11-q14 (link from Ensembl BioMart) ENSP00000267008 ORTHOMCL13339 jaccard_285
601285: OMIM gene: DELETED IN SPLIT-HAND/SPLIT-FOOT 1 REGION Gene map locus 7q21.3-q22.1 (link from Ensembl BioMart) ENSP00000248566 ORTHOMCL4018 jaccard_3194
601287: OMIM phenotype: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F Gene map locus 5q33 (link from NCBI) ENSP00000338343 ORTHOMCL9870 jaccard_1489
601288: OMIM gene: TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, ZETA ISOFORM; YWHAZ Gene map locus 2p25.2-p25.1 (link from Ensembl BioMart) ENSP00000309503 ORTHOMCL182 jaccard_195
601289: OMIM gene: TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, BETA ISOFORM; YWHAB Gene map locus 20q13.1 (link from Ensembl BioMart) ENSP00000217069 ORTHOMCL182 jaccard_195
ENSP00000300161 ORTHOMCL182 jaccard_195
601290: OMIM gene: STRATIFIN; SFN (link from Ensembl BioMart) ENSP00000340989 ORTHOMCL20779 jaccard_195
601291: OMIM gene: URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 8; UGT8 Gene map locus 4q26 (link from Ensembl BioMart) ENSP00000311648 ORTHOMCL789 jaccard_56
601293: OMIM gene: RAS HOMOLOG ENRICHED IN BRAIN 2; RHEB2 Gene map locus 7q36 (link from Ensembl BioMart) ENSP00000262187 ORTHOMCL4946 jaccard_8
601294: OMIM gene: SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 10; SLC6A10 Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000345940
601295: OMIM gene: SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 2; SLC10A2 Gene map locus 13q33 (link from Ensembl BioMart) ENSP00000245312 ORTHOMCL4469 jaccard_863
601296: OMIM gene: MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK Gene map locus 9q31.3-q32 (link from Ensembl BioMart) ENSP00000189978 ORTHOMCL6557 jaccard_2
601297: OMIM gene: SRY-BOX 15; SOX15 Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000355354 ORTHOMCL24595 jaccard_572
601299: OMIM gene: BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A Gene map locus 10q22.3 (link from Ensembl BioMart) ENSP00000224764 ORTHOMCL1632 jaccard_285
601300: OMIM gene: ACTIVIN A RECEPTOR, TYPE IB; ACVR1B Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000257963 ORTHOMCL14603 jaccard_285
601301: OMIM gene: PEPTIDYL-PROLYL ISOMERASE-LIKE 1; PPIL1 Gene map locus 6p21.1 (link from Ensembl BioMart) ENSP00000244367 ORTHOMCL6483 jaccard_98
601302: OMIM gene: PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA ISOFORM 1; PPP3R1 Gene map locus 2p16-p15 (link from Ensembl BioMart) ENSP00000234310 ORTHOMCL4259 jaccard_16
601303: OMIM gene: CYTOSKELETON-ASSOCIATED PROTEIN 1; CKAP1 Gene map locus 19q13.11-q13.12 (link from Ensembl BioMart) ENSP00000221855 ORTHOMCL5501 jaccard_4266
601304: OMIM gene: NON-HISTONE CHROMOSOME PROTEIN 2, S. CEREVISIAE, HOMOLOG-LIKE 1; NHP2L1 Gene map locus 12q24.3 (link from Ensembl BioMart) ENSP00000215956 ORTHOMCL1799 jaccard_117
ENSP00000347401 ORTHOMCL1799 jaccard_117
601305: OMIM gene: 5-@HYDROXYTRYPTAMINE RECEPTOR 5A; HTR5A Gene map locus 7q36.1 (link from Ensembl BioMart) ENSP00000287907 ORTHOMCL7040 jaccard_19
601306: OMIM gene: HEMATOPOIETIC CELL-SPECIFIC LYN SUBSTRATE 1; HCLS1 Gene map locus 3q13 (link from Ensembl BioMart) ENSP00000320176 ORTHOMCL1571 jaccard_139
601309: OMIM gene: PATCHED, DROSOPHILA, HOMOLOG OF; PTCH HOLOPROSENCEPHALY 7, INCLUDED; HPE7, INCLUDED Gene map locus 9q22.3 (link from Ensembl BioMart) ENSP00000332353 ORTHOMCL2524 jaccard_272
601310: OMIM gene: CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000311095 ORTHOMCL37 jaccard_9
601311: OMIM gene: STEROL O-ACYLTRANSFERASE 2; SOAT2 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000301466 ORTHOMCL2569 jaccard_912
601313: OMIM gene: POLYCYSTIC KIDNEY DISEASE 1; PKD1 POLYCYSTIN 1, INCLUDED Gene map locus 16p13.3-p13.12 (link from Ensembl BioMart) ENSP00000262304 ORTHOMCL6814 jaccard_1669
601314: OMIM gene: HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 1; HINT1 Gene map locus 5q31.2 (link from Ensembl BioMart) ENSP00000304229 ORTHOMCL1842 jaccard_591
601316: OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10; DFNA10 Gene map locus 6q23 (link from NCBI) ENSP00000347294 ORTHOMCL3102 jaccard_560
ENSP00000351322 ORTHOMCL3102 jaccard_560
ENSP00000347434 ORTHOMCL3102 jaccard_560
ENSP00000350942 ORTHOMCL3102 jaccard_560
601317: OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11 Gene map locus 11q13.5 (link from NCBI) ENSP00000351105 ORTHOMCL636 jaccard_3
601321: OMIM phenotype: NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Gene map locus 17q11.2 (link from NCBI) ENSP00000348498 ORTHOMCL2105 jaccard_2092
601323: OMIM gene: NUCLEOBINDIN 1; NUCB1 Gene map locus 19q13.2-q13.4 (link from Ensembl BioMart) ENSP00000263273 ORTHOMCL24887 jaccard_11220
601324: OMIM gene: HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D; HNRPD Gene map locus 4q21.1-q21.2 (link from Ensembl BioMart) ENSP00000305860 ORTHOMCL23545 jaccard_0
ENSP00000313199 ORTHOMCL1960 jaccard_0
ENSP00000313327 ORTHOMCL24776 jaccard_0
601325: OMIM gene: CONTACTIN 3; CNTN3 Gene map locus 3p26 (link from Ensembl BioMart) ENSP00000263665 ORTHOMCL1219 jaccard_2
601326: OMIM gene: CLAUDIN 11; CLDN11 Gene map locus 3q26.2-q26.3 (link from Ensembl BioMart) ENSP00000064724 ORTHOMCL14904 jaccard_113
601327: OMIM gene: SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA SUBUNIT; SCN2B Gene map locus 11q23 (link from Ensembl BioMart) ENSP00000278947 ORTHOMCL20697 jaccard_901
601328: OMIM gene: SODIUM CHANNEL, NONVOLTAGE-GATED 1, DELTA SUBUNIT; SCNN1D Gene map locus 1p36.3-p36.2 (link from Ensembl BioMart) ENSP00000339504 ORTHOMCL18239 jaccard_211
601329: OMIM gene: LIM DOMAIN KINASE 1; LIMK1 Gene map locus 7q11.23 (link from Ensembl BioMart) ENSP00000336740 ORTHOMCL2001 jaccard_3056
601330: OMIM gene: GUANYLATE CYCLASE 2C; GUCY2C Gene map locus 12p12 (link from Ensembl BioMart) ENSP00000261170 ORTHOMCL12902 jaccard_336
601333: OMIM gene: SUPPRESSOR OF TY 6, S. CEREVISIAE, HOMOLOG OF; SUPT6H Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000319104 ORTHOMCL3231 jaccard_3489
601334: OMIM gene: KINESIN LIGHT CHAIN 3; KLC3 Gene map locus 19q13.2-q13.3 (link from Ensembl BioMart) ENSP00000336871 ORTHOMCL14679 jaccard_612
601335: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4 Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000262445 ORTHOMCL8279 jaccard_62
601336: OMIM gene: GLUCOSIDASE I; GCS1 Gene map locus 2p13-p12 (link from Ensembl BioMart) ENSP00000233616 ORTHOMCL2450 jaccard_2446
601337: OMIM gene: REGULATORY FACTOR X, 3; RFX3 (link from Ensembl BioMart) ENSP00000351574 ORTHOMCL1172 jaccard_645
ENSP00000265775 ORTHOMCL1172 jaccard_645
ENSP00000303847 ORTHOMCL1172 jaccard_645
601339: OMIM gene: THIOREDOXIN REDUCTASE, SELENOCYSTEINE-CONTAINING (link from Ensembl BioMart) ENSP00000347020 ORTHOMCL506 jaccard_458
601340: OMIM gene: MELANOMA INHIBITORY ACTIVITY PROTEIN; MIA Gene map locus 19q13.32-q13.33 (link from Ensembl BioMart) ENSP00000263369 ORTHOMCL18904 jaccard_3209
601342: OMIM gene: CHROMOSOME SEGREGATION 1-LIKE; CSE1L Gene map locus 20q13 (link from Ensembl BioMart) ENSP00000262982 ORTHOMCL4527 jaccard_624
601361: OMIM gene: GROWTH/DIFFERENTIATION FACTOR 10; GDF10 (link from Ensembl BioMart) ENSP00000224605 ORTHOMCL14341 jaccard_14889
601364: OMIM gene: CADHERIN 13; CDH13 Gene map locus 16q24.2-q24.3 (link from Ensembl BioMart) ENSP00000268613 ORTHOMCL4721 jaccard_14
601365: OMIM gene: DISHEVELLED 1; DVL1 Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000340031 ORTHOMCL22362 jaccard_1138
ENSP00000263743 ORTHOMCL22362 jaccard_1138
601366: OMIM gene: MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; SMAD2 Gene map locus 18q21 (link from Ensembl BioMart) ENSP00000262160 ORTHOMCL9078 jaccard_355
601367: OMIM phenotype: STROKE, ISCHEMIC Gene map locus 13q12 (link from NCBI) ENSP00000255317 ORTHOMCL14984 jaccard_2114
601368: OMIM gene: DISHEVELLED 3; DVL3 Gene map locus 3q27 (link from Ensembl BioMart) ENSP00000316054 ORTHOMCL1819 jaccard_1138
601369: OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9 Gene map locus 14q12-q13 (link from NCBI) ENSP00000216361 ORTHOMCL10455 jaccard_2
601373: OMIM gene: CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5 Gene map locus 3p21 (link from Ensembl BioMart) ENSP00000292303 ORTHOMCL2221 jaccard_6
601380: OMIM gene: EPHRIN A4; EFNA4 Gene map locus 1q21-q22 (link from Ensembl BioMart) ENSP00000271938 ORTHOMCL18209 jaccard_1648
601381: OMIM gene: EPHRIN A3; EFNA3 Gene map locus 1q21-q22 (link from Ensembl BioMart) ENSP00000271902 ORTHOMCL16520 jaccard_1648
601382: OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 Gene map locus 11q22 (link from NCBI) ENSP00000343737 ORTHOMCL1691 jaccard_221
ENSP00000345752 ORTHOMCL1691 jaccard_221
601383: OMIM gene: AQUAPORIN 6; AQP6 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000320247 ORTHOMCL24873 jaccard_122
601384: OMIM gene: LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS E; LY6E Gene map locus 8q24.3 (link from Ensembl BioMart) ENSP00000292494 ORTHOMCL14628 jaccard_652
601385: OMIM gene: TUMOR SUPPRESSOR CANDIDATE 3; TUSC3 Gene map locus 8p22 (link from Ensembl BioMart) ENSP00000221167 ORTHOMCL7298 jaccard_1565
ENSP00000352689 ORTHOMCL7298 jaccard_1565
601386: OMIM phenotype: DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 Gene map locus 10q21-q22, 3p26-p25 (link from NCBI) ENSP00000224721 ORTHOMCL783 jaccard_14
ENSP00000353414 ORTHOMCL138 jaccard_30
ENSP00000324172 ORTHOMCL138 jaccard_30
601387: OMIM gene: TUMOR SUSCEPTIBILITY GENE 101; TSG101 Gene map locus 11p15.2-p15.1 (link from Ensembl BioMart) ENSP00000251968 ORTHOMCL3954 jaccard_2550
601388: OMIM phenotype: DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12 Gene map locus 2q33 (link from NCBI) ENSP00000303939 ORTHOMCL20623 jaccard_3730
601391: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 13; CCL13 Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000225844 ORTHOMCL6503 jaccard_248
601392: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 14; CCL14 Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000293276 ORTHOMCL9099 jaccard_248
601393: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 15; CCL15 Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000293277 ORTHOMCL9099 jaccard_248
601394: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 16; CCL16 Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000293275 jaccard_248
601396: OMIM gene: WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8B; WNT8B Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000340677 ORTHOMCL14264 jaccard_175
601397: OMIM gene: T BRACHYURY, MOUSE, HOMOLOG OF; T Gene map locus 6q27 (link from Ensembl BioMart) ENSP00000296946 ORTHOMCL9519 jaccard_166
601398: OMIM gene: VASCULAR ENDOTHELIAL GROWTH FACTOR B; VEGFB Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000311127 ORTHOMCL18532 jaccard_499
601399: OMIM phenotype: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY Gene map locus 21q22.3 (link from NCBI) ENSP00000319459 ORTHOMCL7048 jaccard_1268
ENSP00000300305 ORTHOMCL7048 jaccard_1268
601401: OMIM gene: MYELOID LEUKEMIA FACTOR 2; MLF2 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000203630 ORTHOMCL5418 jaccard_1929
601402: OMIM gene: MYELOID LEUKEMIA FACTOR 1; MLF1 Gene map locus 3q25.1 (link from Ensembl BioMart) ENSP00000348157 ORTHOMCL8032 jaccard_1929
601403: OMIM gene: DEDICATOR OF CYTOKINESIS 1; DOCK1 Gene map locus 10q26.13-q26.3 (link from Ensembl BioMart) ENSP00000280333 ORTHOMCL358 jaccard_1085
601404: OMIM gene: G PROTEIN-COUPLED RECEPTOR 68; GPR68 Gene map locus 14q31 (link from Ensembl BioMart) ENSP00000238699 ORTHOMCL10620 jaccard_6
601405: OMIM gene: CHYMOTRYPSIN C; CTRC (link from Ensembl BioMart) ENSP00000294427 ORTHOMCL20053 jaccard_10
601406: OMIM gene: B-CELL CLL/LYMPHOMA 7A; BCL7A Gene map locus 12q24.1 (link from Ensembl BioMart) ENSP00000261822 ORTHOMCL7412 jaccard_2231
601408: OMIM gene: HISTONE ACETYLTRANSFERASE MYST3; MYST3 MOZ/CBP FUSION GENE, INCLUDED Gene map locus 8p11 (link from Ensembl BioMart) ENSP00000265713 ORTHOMCL5163
601409: OMIM gene: HIV-1 TAT-INTERACTING PROTEIN; HTATIP PLA2-INTERACTING PROTEIN, INCLUDED; PLIP, INCLUDED (link from Ensembl BioMart) ENSP00000344955 ORTHOMCL784 jaccard_889
ENSP00000340330 ORTHOMCL784 jaccard_889
601410: OMIM phenotype: DIABETES MELLITUS, TRANSIENT NEONATAL Gene map locus 6q24, 6q24, 6q24 (link from NCBI) ENSP00000318500 ORTHOMCL8321 jaccard_11932
ENSP00000346810 ORTHOMCL8321 jaccard_11932
ENSP00000353734 ORTHOMCL8321 jaccard_9966
ENSP00000310418 ORTHOMCL8321 jaccard_9966
601411: OMIM gene: SARCOGLYCAN, DELTA; SGCD Gene map locus 5q33 (link from Ensembl BioMart) ENSP00000338343 ORTHOMCL9870 jaccard_1489