Human disease genes 606225-606358

606101-606224 --- 606359-606467

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
606225: OMIM gene: TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1 Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000312558 ORTHOMCL10365 jaccard_15
ENSP00000308128 ORTHOMCL10365 jaccard_15
ENSP00000327705
ENSP00000331867 ORTHOMCL10365 jaccard_15
606226: OMIM gene: TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2 Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000326653 ORTHOMCL21339 jaccard_15
606227: OMIM gene: MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP Gene map locus 11q23 (link from Ensembl BioMart) ENSP00000353291 ORTHOMCL13112 jaccard_34
606228: OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1 Gene map locus 1p35-p34 (link from Ensembl BioMart) ENSP00000207451 ORTHOMCL239 jaccard_196
606229: OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2 Gene map locus 8q24 (link from Ensembl BioMart) ENSP00000220592 ORTHOMCL239 jaccard_196
606230: OMIM gene: SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3 Gene map locus 22q13.3 (link from Ensembl BioMart) ENSP00000262795 ORTHOMCL853 jaccard_13683
606231: OMIM gene: ADAPTOR PROTEIN CONTAINING PH DOMAIN, PTB DOMAIN, AND LEUCINE ZIPPER MOTIF 2 Gene map locus 12q24.1 (link from Ensembl BioMart) ENSP00000258530 ORTHOMCL15888 jaccard_281
606232: OMIM phenotype: CHROMOSOME 22q13.3 DELETION SYNDROME Gene map locus 22q13.3 (link from NCBI) ENSP00000258530 ORTHOMCL15888 jaccard_281
ENSP00000262795 ORTHOMCL853 jaccard_13683
606233: OMIM gene: PROKINETICIN 1; PROK1 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000271331 ORTHOMCL15843 jaccard_4190
606234: OMIM gene: ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 2 (link from Ensembl BioMart) ENSP00000342876 ORTHOMCL13717 jaccard_491
606236: OMIM gene: ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPCR1 ASPSCR1/TFE3 FUSION GENE, INCLUDED Gene map locus 17q25 (link from Ensembl BioMart) ENSP00000302176 ORTHOMCL2561 jaccard_2990
606237: OMIM gene: TRANSFORMING GROWTH FACTOR-BETA RECEPTOR-ASSOCIATED PROTEIN 1 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000258449 ORTHOMCL15446 jaccard_2319
606238: OMIM gene: ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 5 (link from Ensembl BioMart) ENSP00000263447 ORTHOMCL5906 jaccard_491
606239: OMIM gene: ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 4; ZNFN1A4 (link from Ensembl BioMart) ENSP00000262032 ORTHOMCL10637 jaccard_491
606241: OMIM gene: DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1 Gene map locus 14q31 (link from Ensembl BioMart) ENSP00000343745 ORTHOMCL3642 jaccard_2667
606243: OMIM phenotype: ALVEOLAR SOFT-PART SARCOMA; ASPS Gene map locus 17q25 (link from NCBI) ENSP00000302176 ORTHOMCL2561 jaccard_2990
606244: OMIM gene: SIGNAL-TRANSDUCING ADAPTOR MOLECULE 2; STAM2 (link from Ensembl BioMart) ENSP00000263904 ORTHOMCL19886 jaccard_252
606245: OMIM gene: SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12 Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000316578 ORTHOMCL2830 jaccard_6215
606246: OMIM gene: JAZF1 GENE Gene map locus 7p15 (link from Ensembl BioMart) ENSP00000283928 ORTHOMCL6102 jaccard_7833
606247: OMIM gene: ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM (link from Ensembl BioMart) ENSP00000344742 ORTHOMCL5081 jaccard_1889
606248: OMIM gene: QUINOLINATE PHOSPHORIBOSYLTRANSFERASE; QPRT (link from Ensembl BioMart) ENSP00000219771 ORTHOMCL9879 jaccard_5410
606249: OMIM gene: PROTEIN KINASE, LYSINE-DEFICIENT 2; WNK2 Gene map locus 9q22.3 (link from Ensembl BioMart) ENSP00000348347 ORTHOMCL203 jaccard_5961
ENSP00000297954 ORTHOMCL203 jaccard_5961
606250: OMIM gene: UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 8; GALNT8 Gene map locus 12p13.3 (link from Ensembl BioMart) ENSP00000252318 ORTHOMCL7428 jaccard_125
606251: OMIM gene: UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 9; GALNT9 (link from Ensembl BioMart) ENSP00000329846 ORTHOMCL24417 jaccard_125
606252: OMIM gene: TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP Gene map locus 11q23-q24 (link from Ensembl BioMart) ENSP00000279992 ORTHOMCL13445 jaccard_5149
606254: OMIM gene: SELENOPROTEIN, 15-KD (link from Ensembl BioMart) ENSP00000328729 ORTHOMCL6179 jaccard_4200
606259: OMIM gene: BREAST CANCER METASTASIS SUPPRESSOR 1 Gene map locus 11q13.1-q13.2 (link from Ensembl BioMart) ENSP00000353042 ORTHOMCL1533 jaccard_1296
606260: OMIM gene: MYOTUBULARIN-RELATED PROTEIN 9; MTMR9 Gene map locus 8p23-p22 (link from Ensembl BioMart) ENSP00000221086 ORTHOMCL5800 jaccard_221
606261: OMIM gene: NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 6; NUDT6 (link from Ensembl BioMart) ENSP00000344011
ENSP00000306070 ORTHOMCL1502 jaccard_1779
606264: OMIM gene: C-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A Gene map locus 12p13.2-p12.3 (link from Ensembl BioMart) ENSP00000312089 ORTHOMCL4436 jaccard_14131
ENSP00000298523 ORTHOMCL4436 jaccard_11963
ENSP00000266456 ORTHOMCL4436 jaccard_23
ENSP00000302569 ORTHOMCL4436 jaccard_23
ENSP00000344723 ORTHOMCL4436 jaccard_23
606265: OMIM gene: E1A-BINDING PROTEIN, 400-KD; EP400 Gene map locus 12q24.33 (link from Ensembl BioMart) ENSP00000333602 ORTHOMCL1056
606266: OMIM gene: BCL2-MODIFYING FACTOR; BMF (link from Ensembl BioMart) ENSP00000346697 ORTHOMCL12598 jaccard_5748
ENSP00000220446 ORTHOMCL12598 jaccard_5748
606267: OMIM gene: WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 16; WNT16 (link from Ensembl BioMart) ENSP00000222462 ORTHOMCL7651 jaccard_175
ENSP00000354577 ORTHOMCL7651 jaccard_175
ENSP00000355065 ORTHOMCL7651 jaccard_175
606268: OMIM gene: WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A (link from Ensembl BioMart) ENSP00000258411 ORTHOMCL12262 jaccard_175
606269: OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13C; TNFRSF13C Gene map locus 22q13.1-q13.31 (link from Ensembl BioMart) ENSP00000291232 ORTHOMCL21390 jaccard_12397
606270: OMIM gene: TOLL-LIKE RECEPTOR 10; TLR10 TLR11, INCLUDED (link from Ensembl BioMart) ENSP00000308925 ORTHOMCL24175 jaccard_7
ENSP00000354459 ORTHOMCL24175 jaccard_7
606272: OMIM gene: CYSTINOSIN; CTNS Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000046640 ORTHOMCL3323 jaccard_2916
606273: OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3 Gene map locus 1p34.1 (link from Ensembl BioMart) ENSP00000234553 ORTHOMCL3891 jaccard_463
ENSP00000353575 ORTHOMCL3891 jaccard_463
606274: OMIM gene: CASEIN KINASE I, GAMMA-1; CSNK1G1 (link from Ensembl BioMart) ENSP00000307753 jaccard_65
ENSP00000305777 ORTHOMCL399 jaccard_65
606276: OMIM gene: CARTILAGE ACIDIC PROTEIN 1; CRTAC1 (link from Ensembl BioMart) ENSP00000210816 ORTHOMCL10811 jaccard_4359
606277: OMIM gene: TOLL-INTERACTING PROTEIN (link from Ensembl BioMart) ENSP00000314733 ORTHOMCL9613 jaccard_5401
606278: OMIM gene: F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7 Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000296555 ORTHOMCL2840 jaccard_17
ENSP00000263981 ORTHOMCL2840 jaccard_17
ENSP00000281708 ORTHOMCL2840
606279: OMIM gene: TARGET OF NESH-SH3 Gene map locus 3q12 (link from Ensembl BioMart) ENSP00000284322 ORTHOMCL9836
606280: OMIM gene: CHROMOSOME CONDENSATION PROTEIN G Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000251496 ORTHOMCL3447 jaccard_3104
606281: OMIM gene: RAS-ASSOCIATED PROTEIN RAB38; RAB38 Gene map locus 11q13.5-q22.3 (link from Ensembl BioMart) ENSP00000243662 ORTHOMCL16254 jaccard_8
606283: OMIM gene: SORCS RECEPTOR 1; SORCS1 Gene map locus 10q23.3 (link from Ensembl BioMart) ENSP00000345964 ORTHOMCL3634 jaccard_794
ENSP00000263054 ORTHOMCL3634 jaccard_794
606284: OMIM gene: SORCS RECEPTOR 2; SORCS2 Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000329124 ORTHOMCL874 jaccard_794
606285: OMIM gene: SORCS RECEPTOR 3; SORCS3 Gene map locus 10q23.3 (link from Ensembl BioMart) ENSP00000286935 ORTHOMCL3634 jaccard_794
606286: OMIM gene: DEAD/H BOX 43; DDX43 Gene map locus 6q12-q13 (link from Ensembl BioMart) ENSP00000238919 ORTHOMCL15026 jaccard_31
606289: OMIM gene: PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 2; PCDHGA2 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000303488 ORTHOMCL12762 jaccard_14
606290: OMIM gene: PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 3; PCDHGA3 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000253812 ORTHOMCL12762 jaccard_14
606305: OMIM gene: PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 4; PCDHGC4 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000306918 ORTHOMCL23822 jaccard_14
606306: OMIM gene: PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 5; PCDHGC5 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000252087 ORTHOMCL25193 jaccard_14
606310: OMIM gene: PROTOCADHERIN-ALPHA 4; PCDHA4 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000349344 jaccard_14
606312: OMIM gene: PROTOCADHERIN-ALPHA 6; PCDHA6 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000289630 ORTHOMCL1269 jaccard_14
606316: OMIM gene: PROTOCADHERIN-ALPHA 10; PCDHA10 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000304234 ORTHOMCL1269 jaccard_14
606319: OMIM gene: PROTOCADHERIN-ALPHA 13; PCDHA13 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000289272 ORTHOMCL1269 jaccard_14
606320: OMIM gene: PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 1; PCDHAC1 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000253807 ORTHOMCL24742 jaccard_14
606321: OMIM gene: PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 2; PCDHAC2 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000289269 ORTHOMCL7279 jaccard_14
606322: OMIM gene: CYTOPLASMIC FMRP INTERACTING PROTEIN 1; CYFIP1 Gene map locus Chr.15 (link from Ensembl BioMart) ENSP00000324549 ORTHOMCL1482 jaccard_1841
606323: OMIM gene: CYTOPLASMIC FMRP-INTERACTING PROTEIN 2; CYFIP2 Gene map locus Chr.5 (link from Ensembl BioMart) ENSP00000325817
606324: OMIM phenotype: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 Gene map locus 1p36 (link from NCBI) ENSP00000340278 ORTHOMCL1555 jaccard_1816
ENSP00000234912 ORTHOMCL1555 jaccard_1816
606326: OMIM gene: SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6 MICROPHTHALMIA, SIX6-RELATED, INCLUDED Gene map locus 14q23 (link from Ensembl BioMart) ENSP00000328596 ORTHOMCL13114 jaccard_791
606327: OMIM gene: PROTOCADHERIN-BETA 1; PCDHB1 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000307234 ORTHOMCL21938 jaccard_14
606328: OMIM gene: PROTOCADHERIN-BETA 2; PCDHB2 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000194155 ORTHOMCL280 jaccard_14
606329: OMIM gene: PROTOCADHERIN-BETA 3; PCDHB3 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000231130 ORTHOMCL280 jaccard_14
606330: OMIM gene: PROTOCADHERIN-BETA 4; PCDHB4 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000194152 ORTHOMCL280 jaccard_14
606331: OMIM gene: PROTOCADHERIN-BETA 5; PCDHB5 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000231134 ORTHOMCL280 jaccard_14
606332: OMIM gene: PROTOCADHERIN-BETA 6; PCDHB6 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000231136 ORTHOMCL280 jaccard_14
606333: OMIM gene: PROTOCADHERIN-BETA 7; PCDHB7 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000231137 ORTHOMCL280 jaccard_14
606334: OMIM gene: PROTOCADHERIN-BETA 8; PCDHB8 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000239444 ORTHOMCL280 jaccard_14
606337: OMIM gene: PROTOCADHERIN-BETA 11; PCDHB11 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000346802 ORTHOMCL280 jaccard_14
606338: OMIM gene: PROTOCADHERIN-BETA 12; PCDHB12 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000239450 ORTHOMCL280 jaccard_14
606339: OMIM gene: PROTOCADHERIN-BETA 13; PCDHB13 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000345491 ORTHOMCL280 jaccard_14
606340: OMIM gene: PROTOCADHERIN-BETA 14; PCDHB14 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000239449 ORTHOMCL280 jaccard_14
606341: OMIM gene: PROTOCADHERIN-BETA 15; PCDHB15 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000231173 ORTHOMCL280 jaccard_14
606342: OMIM gene: SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 4; SIX4 Gene map locus 14q23 (link from Ensembl BioMart) ENSP00000216513 ORTHOMCL10840 jaccard_9563
606343: OMIM gene: POLYMERASE, DNA, LAMBDA; POLL Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000299206 ORTHOMCL7671 jaccard_1452
ENSP00000299207 ORTHOMCL7671 jaccard_1452
606344: OMIM gene: POLYMERASE, DNA, MU; POLM (link from Ensembl BioMart) ENSP00000242248 ORTHOMCL17299 jaccard_1452
606345: OMIM gene: PROTOCADHERIN-BETA 16; PCDHB16 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000354293 ORTHOMCL280 jaccard_14
606346: OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22 DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY, INCLUDED Gene map locus 6q13 (link from NCBI) ENSP00000349707 ORTHOMCL1483 jaccard_3
606350: OMIM gene: APRATAXIN; APTX Gene map locus 9p13.3 (link from Ensembl BioMart) ENSP00000311547 ORTHOMCL2986 jaccard_591
606351: OMIM gene: ESPIN, MOUSE, HOMOLOG OF; ESPN DEAFNESS, NEUROSENSORY, WITHOUT VESTIBULAR INVOLVEMENT, AUTOSOMAL DOMINANT, INCLUDED Gene map locus 1p36.3-p36.1 (link from Ensembl BioMart) ENSP00000343975 ORTHOMCL8346 jaccard_11
606352: OMIM gene: ALSIN Gene map locus 2q33 (link from Ensembl BioMart) ENSP00000264276 ORTHOMCL8261 jaccard_2594
606353: OMIM phenotype: PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ Gene map locus 2q33 (link from NCBI) ENSP00000264276 ORTHOMCL8261 jaccard_2594
606355: OMIM gene: DEAD/H BOX 18; DDX18 (link from Ensembl BioMart) ENSP00000263239 ORTHOMCL3136 jaccard_31
606356: OMIM gene: PRO-ONCOSIS RECEPTOR INDUCING MEMBRANE INJURY (link from Ensembl BioMart) ENSP00000355285 ORTHOMCL15994 jaccard_2648
606357: OMIM gene: DEAD/H BOX 21; DDX21 (link from Ensembl BioMart) ENSP00000277806 ORTHOMCL5935 jaccard_31
ENSP00000346120 ORTHOMCL5935 jaccard_31
606358: OMIM gene: ANTERIOR GRADIENT 2, XENOPUS, HOMOLOG OF; AGR2 Gene map locus 7p21.3 (link from Ensembl BioMart) ENSP00000223274 ORTHOMCL13155 jaccard_2958