Human disease genes 606940-607054

606822-606939 --- 607055-607174

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
606940: OMIM gene: ZINC FINGER HOMEODOMAIN 4 Gene map locus 8q21.12 (link from Ensembl BioMart) ENSP00000050961 ORTHOMCL1983 jaccard_5372
606941: OMIM gene: ALG9, YEAST, HOMOLOG OF; ALG9 Gene map locus 11q23 (link from Ensembl BioMart) ENSP00000316397 ORTHOMCL6299 jaccard_770
606942: OMIM gene: COATOMER PROTEIN COMPLEX, SUBUNIT EPSILON; COPE Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000262812 ORTHOMCL4955 jaccard_2764
ENSP00000345674 jaccard_2764
ENSP00000343134 jaccard_2764
606943: OMIM phenotype: USHER SYNDROME, TYPE IG; USH1G Gene map locus 17q24-q25 (link from NCBI) ENSP00000320076 ORTHOMCL4505 jaccard_9235
606944: OMIM gene: ERBB2 INTERACTING PROTEIN; ERBB2IP Gene map locus 5q12 (link from Ensembl BioMart) ENSP00000230768 ORTHOMCL5202 jaccard_33
ENSP00000284037 ORTHOMCL5202 jaccard_33
606945: OMIM gene: LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000252444 ORTHOMCL20574 jaccard_5
606946: OMIM gene: ANAPHASE-PROMOTING COMPLEX, SUBUNIT 2; ANAPC2 Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000314004 ORTHOMCL6186 jaccard_4364
606947: OMIM gene: ANAPHASE-PROMOTING COMPLEX, SUBUNIT 4; ANAPC4 Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000318775 ORTHOMCL7520 jaccard_5905
606948: OMIM gene: ANAPHASE-PROMOTING COMPLEX, SUBUNIT 5; ANAPC5 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000261819 ORTHOMCL7693 jaccard_3767
606949: OMIM gene: ANAPHASE-PROMOTING COMPLEX, SUBUNIT 7; ANAPC7 (link from Ensembl BioMart) ENSP00000346363 ORTHOMCL6968 jaccard_5209
606950: OMIM gene: THYROTROPIN-RELEASING HORMONE-DEGRADING ECTOENZYME Gene map locus 12q15-q21 (link from Ensembl BioMart) ENSP00000261180 ORTHOMCL11694 jaccard_151
606951: OMIM gene: MELANOMA DIFFERENTIATION-ASSOCIATED GENE 5 (link from Ensembl BioMart) ENSP00000263642 ORTHOMCL4148 jaccard_2188
606952: OMIM phenotype: ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED; OCA1-TS, INCLUDED Gene map locus 11q14-q21 (link from NCBI) ENSP00000263321 ORTHOMCL17125 jaccard_3211
606953: OMIM gene: UDP-GALACTOSE-4-EPIMERASE; GALE Gene map locus 1p36-p35 (link from Ensembl BioMart) ENSP00000313026 ORTHOMCL1670 jaccard_257
606954: OMIM gene: ZINC FINGER PROTEIN 253; ZNF253 Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000347868 ORTHOMCL2 jaccard_1
606955: OMIM gene: ZINC FINGER PROTEIN 224; ZNF224 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000313055 ORTHOMCL2381 jaccard_1
606956: OMIM gene: ZINC FINGER PROTEIN 256; ZNF256 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000282308 ORTHOMCL714 jaccard_1
606958: OMIM gene: MEMBRANE PROTEIN, PALMITOYLATED 5; MPP5 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000261681 ORTHOMCL3289 jaccard_33
606959: OMIM gene: MEMBRANE PROTEIN, PALMITOYLATED 6; MPP6 Gene map locus 7p21-p15 (link from Ensembl BioMart) ENSP00000222644 ORTHOMCL5663 jaccard_33
606961: OMIM gene: WW DOMAIN-BINDING PROTEIN 1; WBP1 Gene map locus 2p12 (link from Ensembl BioMart) ENSP00000233615 ORTHOMCL10403 jaccard_3516
606962: OMIM gene: WW DOMAIN-BINDING PROTEIN 2; WBP2 Gene map locus 17q25 (link from Ensembl BioMart) ENSP00000254806 ORTHOMCL4960 jaccard_3450
606963: OMIM phenotype: PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET Gene map locus 14q32.1, 11q22-q23, 2q (link from NCBI) ENSP00000322788 ORTHOMCL11484 jaccard_144
ENSP00000348068 ORTHOMCL1796 jaccard_51
606964: OMIM gene: SERINE/THREONINE PROTEIN KINASE 38; STK38 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000229812 ORTHOMCL773 jaccard_29
606965: OMIM gene: FAS-ACTIVATED SERINE/THREONINE KINASE Gene map locus Chr.7 (link from Ensembl BioMart) ENSP00000324817 jaccard_793
ENSP00000297532 ORTHOMCL9297 jaccard_793
606967: OMIM gene: LECITHIN:CHOLESTEROL ACYLTRANSFERASE; LCAT Gene map locus 16q22.1 (link from Ensembl BioMart) ENSP00000264005 ORTHOMCL13039 jaccard_2024
606968: OMIM gene: ELONGATION FACTOR 2 KINASE Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000263026 ORTHOMCL6318 jaccard_4611
606969: OMIM gene: GEM-ASSOCIATED PROTEIN 4; GEMIN4 (link from Ensembl BioMart) ENSP00000321706 ORTHOMCL8777 jaccard_5451
606973: OMIM gene: COMPONENT OF OLIGOMERIC GOLGI COMPLEX 1; COG1 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000299886 ORTHOMCL8177 jaccard_5131
606974: OMIM gene: COMPONENT OF OLIGOMERIC GOLGI COMPLEX 2; COG2 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000258255 ORTHOMCL6837 jaccard_4598
606975: OMIM gene: COMPONENT OF OLIGOMERIC GOLGI COMPLEX 3; COG3 Gene map locus Chr.13 (link from Ensembl BioMart) ENSP00000258654
ENSP00000350442 ORTHOMCL3430 jaccard_3030
606976: OMIM gene: COMPONENT OF OLIGOMERIC GOLGI COMPLEX 4; COG4 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000315775 ORTHOMCL4372 jaccard_2809
606977: OMIM gene: COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6; COG6 Gene map locus Chr.13 (link from Ensembl BioMart) ENSP00000255468 ORTHOMCL4223 jaccard_3743
ENSP00000348983 jaccard_3743
606978: OMIM gene: COMPONENT OF OLIGOMERIC GOLGI COMPLEX 7; COG7 Gene map locus 16p (link from Ensembl BioMart) ENSP00000305442 ORTHOMCL7107 jaccard_4022
606979: OMIM gene: COMPONENT OF OLIGOMERIC GOLGI COMPLEX 8; COG8 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000305459 ORTHOMCL8333 jaccard_4664
606980: OMIM gene: CHAPERONE-ACTIVITY OF BC1 COMPLEX-LIKE; CABC1 Gene map locus 1q42.2 (link from Ensembl BioMart) ENSP00000343596 ORTHOMCL1964 jaccard_375
606981: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-2; GNG2 Gene map locus 14q21 (link from Ensembl BioMart) ENSP00000334448 ORTHOMCL1523 jaccard_350
606982: OMIM gene: GERANYLGERANYL DIPHOSPHATE SYNTHASE 1; GGPS1 Gene map locus 1q43 (link from Ensembl BioMart) ENSP00000282841 ORTHOMCL7192 jaccard_721
ENSP00000351852 ORTHOMCL7192 jaccard_721
606983: OMIM gene: DIACYLGLYCEROL O-ACYLTRANSFERASE 2; DGAT2 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000228027 ORTHOMCL16527 jaccard_909
606985: OMIM gene: ELONGATION PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; ELP4 Gene map locus 11p13 (link from Ensembl BioMart) ENSP00000265650 ORTHOMCL5381 jaccard_3932
606987: OMIM gene: G PROTEIN-COUPLED RECEPTOR KINASE 7; GPRK7 Gene map locus 3q21-q23 (link from Ensembl BioMart) ENSP00000264952 ORTHOMCL14101 jaccard_29
606988: OMIM gene: CALCINEURIN B HOMOLOGOUS PROTEIN Gene map locus Chr.15 (link from Ensembl BioMart) ENSP00000335632 ORTHOMCL6559 jaccard_16
606989: OMIM gene: MYELOPEROXIDASE; MPO Gene map locus 17q23.1 (link from Ensembl BioMart) ENSP00000225275 ORTHOMCL8809 jaccard_524
606990: OMIM gene: COATOMER PROTEIN COMPLEX, SUBUNIT BETA-2; COPB2 Gene map locus 3q23 (link from Ensembl BioMart) ENSP00000329419 ORTHOMCL2093 jaccard_1149
606991: OMIM gene: INOSITOL HEXAPHOSPHATE KINASE 1; IHPK1 Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000323780 ORTHOMCL3626 jaccard_1011
606992: OMIM gene: INOSITOL HEXAPHOSPHATE KINASE 2; IHPK2 Gene map locus 3p21 (link from Ensembl BioMart) ENSP00000331103 ORTHOMCL11802 jaccard_1011
ENSP00000341925 ORTHOMCL19108 jaccard_10267
606993: OMIM gene: INOSITOL HEXAPHOSPHATE KINASE 3; IHPK3 Gene map locus 6p21 (link from Ensembl BioMart) ENSP00000343154 ORTHOMCL3626 jaccard_1011
ENSP00000293756 ORTHOMCL3626 jaccard_1011
606994: OMIM gene: ACTIVATED P21CDC42HS KINASE Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000329425 ORTHOMCL2038 jaccard_1571
606997: OMIM gene: NUCLEAR DNA-BINDING PROTEIN C1D Gene map locus 2p13-p12 (link from Ensembl BioMart) ENSP00000348107 ORTHOMCL3423 jaccard_3040
606998: OMIM gene: FLOTILLIN 1; FLOT1 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000259846 ORTHOMCL4526 jaccard_1240
606999: OMIM gene: GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT Gene map locus 9p13 (link from Ensembl BioMart) ENSP00000319899 ORTHOMCL5216 jaccard_4195
607000: OMIM gene: THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 4; THRAP4 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000348610 ORTHOMCL6675 jaccard_4031
607001: OMIM gene: EUCHROMATIC HISTONE METHYLTRANSFERASE 1 Gene map locus 9q34.3 (link from Ensembl BioMart) ENSP00000298728 ORTHOMCL238 jaccard_2047
607002: OMIM gene: PROKINETICIN 2; PROK2 Gene map locus 3p21.1 (link from Ensembl BioMart) ENSP00000295619 ORTHOMCL23521 jaccard_4190
ENSP00000295618 ORTHOMCL19417 jaccard_4190
607003: OMIM gene: THYMIC STROMAL LYMPHOPOIETIN Gene map locus Chr.5 (link from Ensembl BioMart) ENSP00000339804 ORTHOMCL16732 jaccard_7737
ENSP00000274454 ORTHOMCL16732 jaccard_7737
607005: OMIM gene: GEM-ASSOCIATED PROTEIN 5 Gene map locus Chr.5 (link from Ensembl BioMart) ENSP00000285873 ORTHOMCL15378 jaccard_3689
607006: OMIM gene: GEM-ASSOCIATED PROTEIN 6; GEMIN6 (link from Ensembl BioMart) ENSP00000281950 ORTHOMCL16920 jaccard_7512
607007: OMIM gene: SNARE-ASSOCIATED PROTEIN SNAPIN; SNAPAP Gene map locus 1q22 (link from Ensembl BioMart) ENSP00000271856 ORTHOMCL8105 jaccard_4722
607008: OMIM gene: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM Gene map locus 1p31 (link from Ensembl BioMart) ENSP00000235701 ORTHOMCL6188 jaccard_236
607009: OMIM gene: TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6; TRPM6 Gene map locus 9q22 (link from Ensembl BioMart) ENSP00000354006 ORTHOMCL224 jaccard_183
607010: OMIM gene: DECAPPING ENZYME 1, S. CEREVISIAE, HOMOLOG OF, A; DCP1A Gene map locus 3p21.1 (link from Ensembl BioMart) ENSP00000294241 ORTHOMCL17304 jaccard_2938
607012: OMIM gene: B-DOUBLE PRIME 1, SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR IIIB; BDP1 Gene map locus 5q13 (link from Ensembl BioMart) ENSP00000351575 ORTHOMCL5739 jaccard_12561
607013: OMIM gene: BRF2 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR; BRF2 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000220659 ORTHOMCL15979 jaccard_1657
607014: OMIM phenotype: HURLER SYNDROME Gene map locus 4p16.3 (link from NCBI) ENSP00000247933 ORTHOMCL5318 jaccard_4010
607015: OMIM phenotype: HURLER-SCHEIE SYNDROME Gene map locus 4p16.3 (link from NCBI) ENSP00000247933 ORTHOMCL5318 jaccard_4010
607016: OMIM phenotype: SCHEIE SYNDROME Gene map locus 4p16.3 (link from NCBI) ENSP00000247933 ORTHOMCL5318 jaccard_4010
607018: OMIM gene: LATROPHILIN HOMOLOG 1; LPHH1 Gene map locus 1p31.1 (link from Ensembl BioMart) ENSP00000353006 ORTHOMCL162 jaccard_59
ENSP00000322270 ORTHOMCL162 jaccard_59
ENSP00000337306 ORTHOMCL162 jaccard_59
607019: OMIM gene: RAS ASSOCIATION DOMAIN FAMILY PROTEIN 3; RASSF3 Gene map locus 12q14.1 (link from Ensembl BioMart) ENSP00000336616 ORTHOMCL23590 jaccard_695
607020: OMIM gene: RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5 REGULATOR FOR CELL ADHESION AND POLARIZATION ENRICHED IN LYMPHOID TISSUE, INCLUDED; RAPL, INCLUDED Gene map locus 1q32.1 (link from Ensembl BioMart) ENSP00000306091 ORTHOMCL17188 jaccard_695
ENSP00000342620 ORTHOMCL16324 jaccard_695
ENSP00000347443 ORTHOMCL16324 jaccard_695
607021: OMIM gene: SEIZURE-RELATED 6-LIKE; SEZ6L Gene map locus 22q12.1 (link from Ensembl BioMart) ENSP00000248933 ORTHOMCL1049 jaccard_34
607022: OMIM gene: CCCTC-BINDING FACTOR-LIKE PROTEIN; CTCFL Gene map locus 20q13.2 (link from Ensembl BioMart) ENSP00000243914
607023: OMIM gene: POLO-LIKE KINASE 2; PLK2 Gene map locus 5q12-q13 (link from Ensembl BioMart) ENSP00000274289 ORTHOMCL14392 jaccard_14058
607024: OMIM gene: DEBRANCHING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; DBR1 (link from Ensembl BioMart) ENSP00000260803 ORTHOMCL4039 jaccard_3578
607025: OMIM gene: MATERNAL EMBRYONIC LEUCINE ZIPPER KINASE; MELK Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000298048 ORTHOMCL198 jaccard_13
607026: OMIM gene: NEURON NAVIGATOR 2; NAV2 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000309577 ORTHOMCL415 jaccard_705
ENSP00000353871 ORTHOMCL415 jaccard_705
607027: OMIM gene: ATPASE, H+ TRANSPORTING, LYSOSOMAL ALPHA POLYPEPTIDE, 70-KD, ISOFORM 1; ATP6V1A1 HO68, INCLUDED Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000273398 ORTHOMCL1574 jaccard_286
607028: OMIM gene: ATPASE, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 1; ATP6V0D1 Gene map locus 16q22 (link from Ensembl BioMart) ENSP00000290949 ORTHOMCL3830 jaccard_2350
607029: OMIM gene: VESICLE-ASSOCIATED MEMBRANE PROTEIN 5; VAMP5 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000305647 ORTHOMCL15156 jaccard_360
607030: OMIM gene: GRANCALCIN; GCA Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000233612 ORTHOMCL7206 jaccard_938
607031: OMIM gene: LIPOIC ACID SYNTHASE; LIAS (link from Ensembl BioMart) ENSP00000261434 ORTHOMCL3621 jaccard_2544
ENSP00000340676 jaccard_2544
607032: OMIM gene: PI3-KINASE-RELATED KINASE SMG1 Gene map locus 16p12 (link from Ensembl BioMart) ENSP00000328281 ORTHOMCL3155 jaccard_4910
607033: OMIM gene: TRANSCRIPTION FACTOR B1, MITOCHONDRIAL; TFB1M Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000031512 ORTHOMCL6382 jaccard_1555
607035: OMIM gene: SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU SUFUXL, INCLUDED Gene map locus 10q24-q25 (link from Ensembl BioMart) ENSP00000305179 ORTHOMCL11462 jaccard_6533
607036: OMIM gene: ISOVALERYL-CoA DEHYDROGENASE; IVD Gene map locus 15q14-q15 (link from Ensembl BioMart) ENSP00000249760 ORTHOMCL6879 jaccard_236
607037: OMIM gene: ENOYL-CoA HYDRATASE/3-HYDROXYACYL CoA DEHYDROGENASE; EHHADH Gene map locus 3q27 (link from Ensembl BioMart) ENSP00000231887 ORTHOMCL1573 jaccard_566
607038: OMIM gene: OTOANCORIN; OTOA Gene map locus 16p12.2 (link from Ensembl BioMart) ENSP00000286149 ORTHOMCL19914 jaccard_10384
607039: OMIM phenotype: DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22 Gene map locus 16p12.2 (link from NCBI) ENSP00000286149 ORTHOMCL19914 jaccard_10384
607040: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11 Gene map locus 16q12.1 (link from Ensembl BioMart) ENSP00000349017 ORTHOMCL520 jaccard_44
ENSP00000311326 ORTHOMCL520 jaccard_44
607041: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 12; ABCC12 Gene map locus 16q12.1 (link from Ensembl BioMart) ENSP00000311030 ORTHOMCL520 jaccard_44
607042: OMIM gene: CLN3 GENE; CLN3 Gene map locus 16p12.1 (link from Ensembl BioMart) ENSP00000353116 ORTHOMCL2132 jaccard_1851
607043: OMIM gene: CHROMOSOME 6 OPEN READING FRAME 5; C6ORF5 Gene map locus 6q21 (link from Ensembl BioMart) ENSP00000345984 ORTHOMCL10918 jaccard_6342
ENSP00000346337 ORTHOMCL10918 jaccard_6342
607046: OMIM gene: TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF; TOMM22 Gene map locus 22q12-q13 (link from Ensembl BioMart) ENSP00000216034 ORTHOMCL8358 jaccard_3098
607047: OMIM gene: ATAXIN 3; ATXN3 Gene map locus 14q24.3-q31 (link from Ensembl BioMart) ENSP00000352872 ORTHOMCL4642 jaccard_3897
ENSP00000339110 ORTHOMCL4642 jaccard_3897
ENSP00000352324 ORTHOMCL4642 jaccard_3897
607048: OMIM gene: START DOMAIN-CONTAINING PROTEIN 3 Gene map locus 17q11-q21 (link from Ensembl BioMart) ENSP00000337446 ORTHOMCL7646 jaccard_5014
607049: OMIM gene: START DOMAIN-CONTAINING PROTEIN 4; STARD4 Gene map locus 5q22 (link from Ensembl BioMart) ENSP00000296632 ORTHOMCL10390 jaccard_2151
607050: OMIM gene: START DOMAIN-CONTAINING PROTEIN 5; STARD5 Gene map locus 15q26 (link from Ensembl BioMart) ENSP00000317519
ENSP00000304032 ORTHOMCL22672 jaccard_2151
607051: OMIM gene: START DOMAIN-CONTAINING PROTEIN 6; STARD6 Gene map locus 18q21 (link from Ensembl BioMart) ENSP00000310814 ORTHOMCL17756 jaccard_2151
607052: OMIM gene: TUMOR SUPPRESSOR CANDIDATE 2; TUSC2 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000232496 ORTHOMCL11021 jaccard_7440
607054: OMIM gene: PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 3; PHLDA3 Gene map locus 1q31 (link from Ensembl BioMart) ENSP00000310290 ORTHOMCL21621 jaccard_4023