Human disease genes 600985-601123

600861-600984 --- 601124-601263

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
600985: OMIM gene: TENASCIN XB; TNXB TENASCIN XB, ISOFORM 1, INCLUDED; TNXB1, INCLUDED Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000343824 ORTHOMCL18654 jaccard_2
ENSP00000299669 ORTHOMCL477 jaccard_2
600988: OMIM gene: MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 2; MAN2A2 Gene map locus 15q25 (link from Ensembl BioMart) ENSP00000353655 ORTHOMCL1155 jaccard_589
600993: OMIM gene: MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4 Gene map locus 18q21.1 (link from Ensembl BioMart) ENSP00000341551 ORTHOMCL5850 jaccard_355
600994: OMIM gene: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5 DFNA5 GENE, INCLUDED; DFNA5, INCLUDED Gene map locus 7p15 (link from Ensembl BioMart) ENSP00000339587 ORTHOMCL10998 jaccard_6354
600995: OMIM phenotype: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1 NEPHROTIC SYNDROME, IDIOPATHIC, INCLUDED Gene map locus 1q25-q31, 1q25-q31 (link from NCBI) ENSP00000263730 ORTHOMCL3675 jaccard_170
600996: OMIM phenotype: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2 Gene map locus 1q42.1-q43, 1q42-q43 (link from NCBI) ENSP00000348047 ORTHOMCL719 jaccard_276
600997: OMIM gene: EPHRIN RECEPTOR EphB2; EPHB2 Gene map locus 1p36.1-p35 (link from Ensembl BioMart) ENSP00000355409 ORTHOMCL124 jaccard_191
ENSP00000255580 ORTHOMCL124 jaccard_191
600998: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ Gene map locus 9q21 (link from Ensembl BioMart) ENSP00000286548 ORTHOMCL1633 jaccard_116
600999: OMIM gene: MYC-ASSOCIATED ZINC FINGER PROTEIN; MAZ Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000313362 ORTHOMCL23529 jaccard_8994
601001: OMIM phenotype: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE Gene map locus 17q12-q21 (link from NCBI) ENSP00000167586 ORTHOMCL971 jaccard_0
601002: OMIM gene: GLUTATHIONE SYNTHETASE; GSS Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000216951 ORTHOMCL2378 jaccard_2486
601003: OMIM phenotype: BRODY MYOPATHY Gene map locus 16p12 (link from NCBI) ENSP00000349595 ORTHOMCL214 jaccard_30
601005: OMIM phenotype: TIMOTHY SYNDROME; TS Gene map locus 12p13.3 (link from NCBI) ENSP00000341092 ORTHOMCL95 jaccard_70
601007: OMIM gene: LEPTIN RECEPTOR; LEPR Gene map locus 1p31 (link from Ensembl BioMart) ENSP00000330393 ORTHOMCL3055 jaccard_546
ENSP00000340884 ORTHOMCL3055 jaccard_546
601009: OMIM gene: TIGHT JUNCTION PROTEIN 1; TJP1 Gene map locus 15q13 (link from Ensembl BioMart) ENSP00000281537 ORTHOMCL1684 jaccard_33
601010: OMIM gene: TRANSCRIPTION FACTOR 15; TCF15 Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000246080 ORTHOMCL13789 jaccard_507
601011: OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000317661 ORTHOMCL95 jaccard_70
ENSP00000353362 ORTHOMCL95 jaccard_70
601014: OMIM gene: DISCS LARGE, DROSOPHILA, HOMOLOG OF, 1; DLG1 Gene map locus 3q29 (link from Ensembl BioMart) ENSP00000352997 ORTHOMCL474 jaccard_33
ENSP00000345731 ORTHOMCL474 jaccard_33
601015: OMIM gene: NPC2 GENE; NPC2 Gene map locus 14q24.3 (link from Ensembl BioMart) ENSP00000238633 ORTHOMCL8401 jaccard_2116
601017: OMIM gene: SYNTROPHIN, ALPHA-1; SNTA1 Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000217381 ORTHOMCL20498 jaccard_713
601019: OMIM gene: SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 9; SLC6A9 GLYCINE TRANSPORTER 1A, INCLUDED; GLYT1A, INCLUDED Gene map locus 1p33 (link from Ensembl BioMart) ENSP00000353791 ORTHOMCL2215 jaccard_89
ENSP00000346452 ORTHOMCL2215 jaccard_89
601020: OMIM gene: CD86 ANTIGEN; CD86 Gene map locus 3q21 (link from Ensembl BioMart) ENSP00000332049 ORTHOMCL13333 jaccard_132
601021: OMIM gene: NUCLEOPORIN, 98-KD; NUP98 NUP98-NUP96 PRECURSOR PROTEIN, INCLUDED Gene map locus 11p15 (link from Ensembl BioMart) ENSP00000352091 ORTHOMCL1335 jaccard_4940
ENSP00000316032 ORTHOMCL1335 jaccard_4940
ENSP00000347404 ORTHOMCL1335 jaccard_4940
601023: OMIM gene: VALOSIN-CONTAINING PROTEIN; VCP Gene map locus 9p13-p12 (link from Ensembl BioMart) ENSP00000298001 ORTHOMCL1392 jaccard_60
601024: OMIM gene: ADAPTOR-RELATED PROTEIN COMPLEX 2, MU-1 SUBUNIT; AP2M1 Gene map locus 3q28 (link from Ensembl BioMart) ENSP00000292807 ORTHOMCL2455 jaccard_429
601025: OMIM gene: ADAPTOR-RELATED PROTEIN COMPLEX 2, BETA-1 SUBUNIT; AP2B1 Gene map locus 17q11.2-q12 (link from Ensembl BioMart) ENSP00000262325 ORTHOMCL973 jaccard_123
ENSP00000314414 ORTHOMCL973 jaccard_123
601026: OMIM gene: ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-1 SUBUNIT; AP2A1 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000346246 ORTHOMCL919 jaccard_123
ENSP00000351926 ORTHOMCL919 jaccard_123
601028: OMIM gene: CD47 ANTIGEN; CD47 Gene map locus 3q13.1-q13.2 (link from Ensembl BioMart) ENSP00000347512 ORTHOMCL15929 jaccard_5352
ENSP00000355361 ORTHOMCL15929 jaccard_5352
601029: OMIM gene: MESODERM-SPECIFIC TRANSCRIPT, MOUSE, HOMOLOG OF; MEST Gene map locus 7q32 (link from Ensembl BioMart) ENSP00000223215 ORTHOMCL11459 jaccard_6740
ENSP00000342749 ORTHOMCL11459 jaccard_6740
601030: OMIM gene: RIBONUCLEASE A FAMILY, 4; RNASE4 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000307096 ORTHOMCL11513 jaccard_788
601031: OMIM phenotype: RHOPHILIN (link from Ensembl BioMart) ENSP00000289013 ORTHOMCL20402 jaccard_3078
601032: OMIM gene: PROTEIN KINASE C-LIKE 1; PRKCL1 Gene map locus 19p12 (link from Ensembl BioMart) ENSP00000343325 ORTHOMCL910 jaccard_1042
ENSP00000242783 ORTHOMCL910 jaccard_1042
601035: OMIM gene: HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H1; HNRPH1 Gene map locus 5q35.3 (link from Ensembl BioMart) ENSP00000349168 ORTHOMCL1071 jaccard_255
601036: OMIM gene: HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; HNRPH2 Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000247376 ORTHOMCL14724 jaccard_255
601037: OMIM gene: HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN F; HNRPF Gene map locus 10q11.21-q11.22 (link from Ensembl BioMart) ENSP00000348345 ORTHOMCL5708 jaccard_255
ENSP00000338477 ORTHOMCL5708 jaccard_255
ENSP00000349573 ORTHOMCL1071 jaccard_255
601040: OMIM gene: SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1 Gene map locus 12q24.31 (link from Ensembl BioMart) ENSP00000261693 ORTHOMCL11187 jaccard_578
601041: OMIM gene: TRANSDUCIN-LIKE ENHANCER OF SPLIT 2; TLE2 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000262953 ORTHOMCL365 jaccard_669
601045: OMIM gene: CATENIN, DELTA-1; CTNND1 Gene map locus 11q11 (link from Ensembl BioMart) ENSP00000354785 ORTHOMCL692 jaccard_379
ENSP00000354823 ORTHOMCL692 jaccard_379
601046: OMIM gene: MATRIX METALLOPROTEINASE 12; MMP12 Gene map locus 11q22.2-q22.3 (link from Ensembl BioMart) ENSP00000320664 ORTHOMCL18027 jaccard_144
601047: OMIM gene: CAVEOLIN 1; CAV1 Gene map locus 7q31.1 (link from Ensembl BioMart) ENSP00000339191 ORTHOMCL15754 jaccard_2635
601048: OMIM gene: CAVEOLIN 2; CAV2 Gene map locus 7q31.1 (link from Ensembl BioMart) ENSP00000222693 ORTHOMCL14644 jaccard_2635
ENSP00000345679
601051: OMIM gene: MESOTHELIN; MSLN Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000313398 ORTHOMCL17475 jaccard_7426
601052: OMIM gene: PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1 Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000247970 ORTHOMCL8141 jaccard_2237
601053: OMIM gene: PLEXIN B1; PLXNB1 Gene map locus 3pter-p14 (link from Ensembl BioMart) ENSP00000351338 ORTHOMCL2364 jaccard_348
601054: OMIM gene: PLEXIN A2; PLXNA2 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000264296 ORTHOMCL824 jaccard_348
601055: OMIM gene: PLEXIN A1; PLXNA1 Gene map locus 3q21-qter (link from Ensembl BioMart) ENSP00000251772 ORTHOMCL824 jaccard_348
601056: OMIM gene: BCL2-RELATED PROTEIN A1; BCL2A1 Gene map locus 15q24.3 (link from Ensembl BioMart) ENSP00000267953 ORTHOMCL10397 jaccard_533
601057: OMIM gene: PROGRAMMED CELL DEATH 6; PDCD6 (link from Ensembl BioMart) ENSP00000264933 ORTHOMCL1487 jaccard_16
601059: OMIM gene: ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR Gene map locus 1q21.3 (link from Ensembl BioMart) ENSP00000345552 ORTHOMCL1622 jaccard_787
ENSP00000292205 ORTHOMCL1622 jaccard_787
601060: OMIM gene: ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 2; ENPP2 Gene map locus 8q24.1 (link from Ensembl BioMart) ENSP00000259486 ORTHOMCL10631 jaccard_420
ENSP00000075322 ORTHOMCL10631 jaccard_420
601061: OMIM gene: SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D2; SNRPD2 (link from Ensembl BioMart) ENSP00000342374 ORTHOMCL2399 jaccard_137
601062: OMIM gene: SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D3; SNRPD3 (link from Ensembl BioMart) ENSP00000215829 ORTHOMCL3435 jaccard_519
601063: OMIM gene: SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D1; SNRPD1 (link from Ensembl BioMart) ENSP00000300413 ORTHOMCL4508 jaccard_519
601064: OMIM gene: ZINC FINGER PROTEIN 36, C3H TYPE-LIKE 1; ZFP36L1 Gene map locus 14q22-q24 (link from Ensembl BioMart) ENSP00000337386 ORTHOMCL743 jaccard_1376
601065: OMIM gene: ALANYL-tRNA SYNTHETASE; AARS Gene map locus 16q22 (link from Ensembl BioMart) ENSP00000261772 ORTHOMCL1530 jaccard_1624
601066: OMIM gene: OXIDASE, CYTOCHROME c, ASSEMBLY 1-LIKE; OXA1L Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000285848 ORTHOMCL2567 jaccard_1646
601067: OMIM phenotype: USHER SYNDROME, TYPE ID; USH1D Gene map locus 10q21-q22 (link from NCBI) ENSP00000224721 ORTHOMCL783 jaccard_14
601069: OMIM gene: ZINC FINGER PROTEIN 239; ZNF239 Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000341689 ORTHOMCL12293 jaccard_1
ENSP00000307774 ORTHOMCL12293 jaccard_1
601070: OMIM gene: INTERLEUKIN 15 RECEPTOR, ALPHA; IL15RA Gene map locus 10p15-p14 (link from Ensembl BioMart) ENSP00000322245 ORTHOMCL7255 jaccard_4921
ENSP00000256887 ORTHOMCL7255 jaccard_4921
601071: OMIM phenotype: DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, INCLUDED; AUNB1, INCLUDED Gene map locus 2p23-p22 (link from NCBI) ENSP00000354472 ORTHOMCL921 jaccard_410
ENSP00000272371 ORTHOMCL921 jaccard_410
ENSP00000344521 ORTHOMCL921 jaccard_410
ENSP00000345137 ORTHOMCL921 jaccard_410
601072: OMIM phenotype: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8 Gene map locus 21q22.3 (link from NCBI) ENSP00000291532 ORTHOMCL8243 jaccard_10
601074: OMIM gene: CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 1; CUGBP1 Gene map locus 11p11 (link from Ensembl BioMart) ENSP00000351409 ORTHOMCL195 jaccard_0
ENSP00000308386 ORTHOMCL195 jaccard_0
ENSP00000354639 ORTHOMCL195 jaccard_0
601077: OMIM gene: KERATIN, HAIR, ACIDIC, 1; KRTHA1 Gene map locus 17q12-q21 (link from Ensembl BioMart) ENSP00000251645 ORTHOMCL9058 jaccard_0
601078: OMIM gene: KERATIN, HAIR, BASIC, 2; KRTHB2 (link from Ensembl BioMart) ENSP00000257974 ORTHOMCL21745 jaccard_0
601079: OMIM gene: U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT 1 Gene map locus 5q22 (link from Ensembl BioMart) ENSP00000311141 ORTHOMCL7631 jaccard_9498
601080: OMIM gene: U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT 3; U2AF1RS3 Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000292879 jaccard_1013
601081: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY 3, MEMBER 2; ABCD2 Gene map locus 12q11-q12 (link from Ensembl BioMart) ENSP00000310688 ORTHOMCL1058 jaccard_534
601082: OMIM gene: UBIQUITIN-CONJUGATING ENZYME E2H; UBE2H Gene map locus 7q32 (link from Ensembl BioMart) ENSP00000347836 ORTHOMCL1834 jaccard_42
ENSP00000346395
601089: OMIM gene: FORKHEAD BOX F1; FOXF1 Gene map locus 16q24 (link from Ensembl BioMart) ENSP00000262426 ORTHOMCL14871 jaccard_297
601090: OMIM gene: FORKHEAD BOX C1; FOXC1 Gene map locus 6p25 (link from Ensembl BioMart) ENSP00000064324 ORTHOMCL8895 jaccard_297
601092: OMIM gene: FORKHEAD BOX D4; FOXD4 Gene map locus 9p1-q1 (link from Ensembl BioMart) ENSP00000327685 ORTHOMCL3724 jaccard_297
601093: OMIM gene: FORKHEAD BOX I1; FOXI1 Gene map locus 5q34 (link from Ensembl BioMart) ENSP00000304286 ORTHOMCL15123 jaccard_297
601094: OMIM gene: FORKHEAD BOX E3; FOXE3 Gene map locus 1p32 (link from Ensembl BioMart) ENSP00000334472 ORTHOMCL17013 jaccard_297
601097: OMIM gene: PERIPHERAL MYELIN PROTEIN 22; PMP22 Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000308937 ORTHOMCL12915 jaccard_742
601098: OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C Gene map locus 16p13.3-p12 (link from NCBI) ENSP00000340118 ORTHOMCL2410 jaccard_865
601099: OMIM gene: SRC-LIKE ADAPTOR; SLA Gene map locus 8q24.2-q24.3 (link from Ensembl BioMart) ENSP00000337548 ORTHOMCL11980 jaccard_7507
601100: OMIM gene: STRESS 70 PROTEIN CHAPERONE, MICROSOME-ASSOCIATED, 60-KD; STCH Gene map locus 21q11.1 (link from Ensembl BioMart) ENSP00000285667 ORTHOMCL12355 jaccard_101
601102: OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 2; EIF4A2 Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000326381 ORTHOMCL898 jaccard_31
601103: OMIM gene: MICROFIBRIL-ASSOCIATED GLYCOPROTEIN 2 Gene map locus 12p13.1-p12.3 (link from Ensembl BioMart) ENSP00000352455 ORTHOMCL15115 jaccard_6099
601104: OMIM phenotype: SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1 Gene map locus 17q21.1 (link from NCBI) ENSP00000302706 ORTHOMCL5812 jaccard_1395
ENSP00000262410 ORTHOMCL3214
ENSP00000303214 ORTHOMCL3214 jaccard_1395
ENSP00000334886 ORTHOMCL12646 jaccard_1395
601105: OMIM gene: CATHEPSIN K; CTSK Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000271651 ORTHOMCL15240 jaccard_73
601107: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 2; ABCC2 Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000266063 ORTHOMCL102 jaccard_44
601109: OMIM gene: 5-@HYDROXYTRYPTAMINE RECEPTOR 6; HTR6 Gene map locus 1p36-p35 (link from Ensembl BioMart) ENSP00000289753 ORTHOMCL11643 jaccard_19
601112: OMIM gene: THIOREDOXIN REDUCTASE 1; TXNRD1 Gene map locus 12q23-q24.1 (link from Ensembl BioMart) ENSP00000347020 ORTHOMCL506 jaccard_458
601113: OMIM gene: HEAT-SHOCK 70-KD PROTEIN 4; HSPA4 Gene map locus 5q31.1-q31.2 (link from Ensembl BioMart) ENSP00000320397
ENSP00000302961 ORTHOMCL507 jaccard_101
601114: OMIM gene: MEMBRANE PROTEIN, PALMITOYLATED 3; MPP3 Gene map locus 17q12-q21 (link from Ensembl BioMart) ENSP00000348885 ORTHOMCL3482 jaccard_33
601115: OMIM gene: GLUTAMATE RECEPTOR, METABOTROPIC, 3; GRM3 Gene map locus 7q21.1-q21.2 (link from Ensembl BioMart) ENSP00000355316 ORTHOMCL4611 jaccard_15
601116: OMIM gene: GLUTAMATE RECEPTOR, METABOTROPIC, 8; GRM8 Gene map locus 7q31.3-q32.1 (link from Ensembl BioMart) ENSP00000345747 ORTHOMCL1559 jaccard_15
601117: OMIM gene: THIMET OLIGOPEPTIDASE 1; THOP1 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000304467 ORTHOMCL2784 jaccard_1563
601118: OMIM gene: CALCIUM-MODULATING CYCLOPHILIN LIGAND; CAMLG Gene map locus 5q23 (link from Ensembl BioMart) ENSP00000297156 ORTHOMCL20686 jaccard_14840
601119: OMIM gene: CLpP, E. COLI, HOMOLOG OF; CLPP Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000245816 ORTHOMCL3704 jaccard_1651
601120: OMIM gene: CADHERIN 5; CDH5 Gene map locus 16q22.1 (link from Ensembl BioMart) ENSP00000344115 ORTHOMCL18236 jaccard_14
601121: OMIM gene: PLACENTAL GROWTH FACTOR; PGF Gene map locus 14q24-q31 (link from Ensembl BioMart) ENSP00000256315 ORTHOMCL12619 jaccard_499
ENSP00000238607 ORTHOMCL12619 jaccard_499
601122: OMIM gene: 5-@HYDROXYTRYPTAMINE RECEPTOR 2B; HTR2B Gene map locus 2q36.3-q37.1 (link from Ensembl BioMart) ENSP00000258400 ORTHOMCL17571 jaccard_19
601123: OMIM gene: ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 1; ST8SIA1 Gene map locus 12p12.1-p11.2 (link from Ensembl BioMart) ENSP00000261197 ORTHOMCL11229 jaccard_180