Human disease genes 605989-606100

605873-605988 --- 606101-606224

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
605989: OMIM gene: PROTEIN INHIBITOR OF ACTIVATED STAT4; PIAS4 (link from Ensembl BioMart) ENSP00000262971 ORTHOMCL8956 jaccard_432
605990: OMIM phenotype: URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO Gene map locus 10q21.2 (link from NCBI) ENSP00000345300
ENSP00000342563 ORTHOMCL23580 jaccard_5163
ENSP00000339990 ORTHOMCL18526 jaccard_5163
605991: OMIM gene: NEURONAL GUANINE NUCLEOTIDE EXCHANGE FACTOR; NGEF Gene map locus 2q37 (link from Ensembl BioMart) ENSP00000264051 ORTHOMCL916 jaccard_55
605992: OMIM gene: LIM HOMEOBOX PROTEIN 5; LHX5 Gene map locus 12q24.31-q24.32 (link from Ensembl BioMart) ENSP00000261731 ORTHOMCL15414 jaccard_223
605993: OMIM gene: PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 2C; PPM2C (link from Ensembl BioMart) ENSP00000297598 ORTHOMCL429 jaccard_2059
605994: OMIM gene: OXYSTEROL 7-ALPHA-HYDROXYLASE 2; CYP39A1 Gene map locus 6p21.1-p11.2 (link from Ensembl BioMart) ENSP00000275016 ORTHOMCL17271 jaccard_6430
605995: OMIM gene: KINESIN FAMILY MEMBER 1B; KIF1B Gene map locus 1p36.2 (link from Ensembl BioMart) ENSP00000263934 ORTHOMCL294 jaccard_38
ENSP00000344156 ORTHOMCL294 jaccard_38
605996: OMIM gene: DOM3, C. ELEGANS, HOMOLOG OF, Z; DOM3Z Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000337759 ORTHOMCL3997 jaccard_3493
605997: OMIM gene: PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, GAMMA ISOFORM; PPP2R2C Gene map locus 4p16 (link from Ensembl BioMart) ENSP00000335083 jaccard_549
ENSP00000264959 ORTHOMCL17596 jaccard_549
605998: OMIM gene: HCLS1-ASSOCIATED PROTEIN X1; HAX1 Gene map locus 1q21.3 (link from Ensembl BioMart) ENSP00000329002 jaccard_6012
ENSP00000271886 ORTHOMCL12692 jaccard_6012
605999: OMIM gene: C-TYPE LECTIN DOMAIN FAMILY 10, MEMBER A; CLEC10A (link from Ensembl BioMart) ENSP00000254868 ORTHOMCL14951 jaccard_454
606001: OMIM gene: INTERLEUKIN 32; IL32 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000008180 ORTHOMCL24280 jaccard_9931
ENSP00000324742 ORTHOMCL24280 jaccard_9931
606002: OMIM phenotype: SPINOCEREBELLAR ATAXIA, RECESSIVE, NON-FRIEDREICH TYPE 1 Gene map locus 9q34 (link from NCBI) ENSP00000224140 ORTHOMCL1408 jaccard_11847
606003: OMIM phenotype: TRANSALDOLASE DEFICIENCY Gene map locus 11p15.5-p15.4 (link from NCBI) ENSP00000321259 ORTHOMCL5316 jaccard_3111
606004: OMIM gene: GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 1; GGA1 Gene map locus Chr.22 (link from Ensembl BioMart) ENSP00000321288 jaccard_252
ENSP00000341344 ORTHOMCL6735 jaccard_252
606005: OMIM gene: GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 2 (link from Ensembl BioMart) ENSP00000311962 ORTHOMCL20038 jaccard_252
606006: OMIM gene: GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 3; GGA3 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000326575 ORTHOMCL8700 jaccard_252
ENSP00000245541 ORTHOMCL8700 jaccard_252
606007: OMIM gene: POLYMERASE III, RNA, SUBUNIT K; POLR3K (link from Ensembl BioMart) ENSP00000293860 ORTHOMCL4578 jaccard_826
606008: OMIM gene: NATURAL KILLER CELL GROUP 7 SEQUENCE; NKG7 (link from Ensembl BioMart) ENSP00000221978 ORTHOMCL23915 jaccard_742
606010: OMIM gene: NUCLEAR RECEPTOR-BINDING PROTEIN; NRBP Gene map locus 2p23 (link from Ensembl BioMart) ENSP00000233557 ORTHOMCL6402 jaccard_5654
606011: OMIM gene: CTX, XENOPUS, HOMOLOG-LIKE (link from Ensembl BioMart) ENSP00000318684 ORTHOMCL25182 jaccard_303
606013: OMIM gene: F-BOX ONLY PROTEIN 5; FBXO5 (link from Ensembl BioMart) ENSP00000229758 ORTHOMCL16681 jaccard_5286
606014: OMIM gene: ARISTALESS-LIKE HOMEOBOX 3; ALX3 Gene map locus 1p21-p13 (link from Ensembl BioMart) ENSP00000286667 ORTHOMCL18248 jaccard_11086
606015: OMIM gene: REGULATOR OF FAS-INDUCED APOPTOSIS TOSO (link from Ensembl BioMart) ENSP00000294987 ORTHOMCL18200 jaccard_13817
606016: OMIM gene: KELCH-LIKE ECH-ASSOCIATED PROTEIN 1; KEAP1 (link from Ensembl BioMart) ENSP00000171111 ORTHOMCL3793 jaccard_49
606017: OMIM gene: POLYMERASE II, RNA, SUBUNIT D; POLR2D (link from Ensembl BioMart) ENSP00000272645 ORTHOMCL5573 jaccard_4264
606018: OMIM gene: EGF-LIKE REPEATS- AND DISCOIDIN I-LIKE DOMAINS-CONTAINING PROTEIN 3; EDIL3 (link from Ensembl BioMart) ENSP00000296591 ORTHOMCL9214 jaccard_1378
606019: OMIM gene: EXOSONE COMPONENT 8; EXOSC8 Gene map locus Chr.13 (link from Ensembl BioMart) ENSP00000239893 ORTHOMCL11609 jaccard_1051
606020: OMIM gene: OPA-INTERACTING PROTEIN 5; OIP5 (link from Ensembl BioMart) ENSP00000220514 jaccard_6457
606021: OMIM gene: PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA; PRAME Gene map locus Chr.22 (link from Ensembl BioMart) ENSP00000351432 ORTHOMCL47 jaccard_104
606022: OMIM gene: NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 9; NUDT9 (link from Ensembl BioMart) ENSP00000303575 ORTHOMCL4252 jaccard_3568
ENSP00000350728 ORTHOMCL4252 jaccard_3568
606023: OMIM gene: POLYMERASE II, RNA, SUBUNIT H; POLR2H Gene map locus 3q28 (link from Ensembl BioMart) ENSP00000296223 ORTHOMCL4402 jaccard_3141
606025: OMIM gene: ZINC FINGER PROTEIN 288; ZNF288 Gene map locus 3q13.2-q27 (link from Ensembl BioMart) ENSP00000349803 ORTHOMCL7461 jaccard_85
606026: OMIM gene: WOLF-HIRSCHHORN SYNDROME CANDIDATE 2; WHSC2 Gene map locus 4p16.3 (link from Ensembl BioMart) ENSP00000330311 ORTHOMCL14433
606027: OMIM gene: CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 1; CPSF1 (link from Ensembl BioMart) ENSP00000339353 ORTHOMCL4412 jaccard_800
606028: OMIM gene: CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 2; CPSF2 (link from Ensembl BioMart) ENSP00000298875 ORTHOMCL5201 jaccard_661
606029: OMIM gene: CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 3; CPSF3 (link from Ensembl BioMart) ENSP00000238112 ORTHOMCL3366 jaccard_661
606030: OMIM gene: AUTOANTIGEN RCD8 (link from Ensembl BioMart) ENSP00000351811 ORTHOMCL2044 jaccard_2125
606031: OMIM gene: WD REPEAT-CONTAINING PROTEIN 6; WDR6 Gene map locus 15q21 (link from Ensembl BioMart) ENSP00000324158 ORTHOMCL4334 jaccard_4182
606032: OMIM gene: SERINE/ARGININE REPETITIVE MATRIX PROTEIN 2; SRRM2 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000301740 ORTHOMCL3060 jaccard_8219
606033: OMIM gene: POLYMERASE II, RNA, SUBUNIT K; POLR2K Gene map locus 8p22 (link from Ensembl BioMart) ENSP00000342889 ORTHOMCL5653 jaccard_2881
606034: OMIM gene: RIBONUCLEASE H2, LARGE SUBUNIT; RNASEH2A Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000221486 ORTHOMCL5421 jaccard_4142
606036: OMIM gene: ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR 2; ARNT2 Gene map locus 15q24 (link from Ensembl BioMart) ENSP00000307479 ORTHOMCL7195 jaccard_128
606037: OMIM gene: CD96 ANTIGEN; CD96 Gene map locus 3q13.13 (link from Ensembl BioMart) ENSP00000342040 ORTHOMCL14168 jaccard_9518
ENSP00000283285 ORTHOMCL14168 jaccard_9518
606039: OMIM gene: G PROTEIN-COUPLED RECEPTOR 109B; GPR109B Gene map locus 12q24.31 (link from Ensembl BioMart) ENSP00000328742 jaccard_6
606040: OMIM gene: WD REPEAT-CONTAINING PROTEIN 8; WDR8 Gene map locus 1p36.3 (link from Ensembl BioMart) ENSP00000270708 ORTHOMCL8927 jaccard_6170
606041: OMIM gene: SPARC-LIKE PROTEIN 1; SPARCL1 (link from Ensembl BioMart) ENSP00000282470 ORTHOMCL11057 jaccard_12416
606042: OMIM gene: MYONEURIN; MYNN (link from Ensembl BioMart) ENSP00000326240 ORTHOMCL6989 jaccard_85
606043: OMIM gene: ZINC FINGER PROTEIN 331; ZNF331 Gene map locus 19q13.3-q13.4 (link from Ensembl BioMart) ENSP00000253144 ORTHOMCL19220 jaccard_1
606044: OMIM gene: SJOGREN SYNDROME/SCLERODERMA AUTOANTIGEN 1; SSSCA1 (link from Ensembl BioMart) ENSP00000312318 ORTHOMCL12930 jaccard_7515
606045: OMIM gene: WD REPEAT-CONTAINING PROTEIN 10; WDR10 Gene map locus 3q21 (link from Ensembl BioMart) ENSP00000324165 ORTHOMCL5518 jaccard_1445
ENSP00000323973 ORTHOMCL5518 jaccard_1445
ENSP00000324005 ORTHOMCL5518 jaccard_1445
ENSP00000296266 ORTHOMCL5518 jaccard_1445
606046: OMIM gene: SYNTAXIN 18 (link from Ensembl BioMart) ENSP00000305810 ORTHOMCL5991 jaccard_4926
606047: OMIM gene: IMMUNOGLOBULIN-LIKE TRANSCRIPT 11 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000301219 ORTHOMCL510 jaccard_2
ENSP00000302948 ORTHOMCL510 jaccard_2
606048: OMIM gene: BREAST AND BLADDER CANCER OVEREXPRESSED GENE 1 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000245615 ORTHOMCL5888 jaccard_416
606051: OMIM gene: DEAFNESS LOCUS-ASSOCIATED PUTATIVE GUANINE NUCLEOTIDE EXCHANGE FACTOR Gene map locus 11p14 (link from Ensembl BioMart) ENSP00000265965 ORTHOMCL9191 jaccard_231
606054: OMIM phenotype: PROPIONIC ACIDEMIA Gene map locus 13q32, 3q21-q22 (link from NCBI) ENSP00000251654 ORTHOMCL10253 jaccard_2606
ENSP00000308554 ORTHOMCL1537 jaccard_565
606055: OMIM gene: PHOSPHATIDYLCHOLINE TRANSFER PROTEIN; PCTP Gene map locus 17q21-q22 (link from Ensembl BioMart) ENSP00000268896 ORTHOMCL14916 jaccard_1298
606056: OMIM phenotype: GLUCOSIDASE I DEFICIENCY Gene map locus 2p13-p12 (link from NCBI) ENSP00000233616 ORTHOMCL2450 jaccard_2446
606057: OMIM gene: RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; RAPGEF3 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000171000 ORTHOMCL9158 jaccard_136
606058: OMIM gene: RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAPGEF4 (link from Ensembl BioMart) ENSP00000264111 ORTHOMCL2764 jaccard_136
606059: OMIM gene: PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR ALPHA; PKIA Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000336552 ORTHOMCL21150 jaccard_2476
606060: OMIM gene: DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 12; DNAJC12 Gene map locus 10q21.1 (link from Ensembl BioMart) ENSP00000225171 ORTHOMCL3263 jaccard_2495
ENSP00000343575 jaccard_2495
606061: OMIM gene: T-BOX 20; TBX20 Gene map locus 7p15-p14 (link from Ensembl BioMart) ENSP00000297053 ORTHOMCL8365 jaccard_166
606062: OMIM gene: CHONDROITIN SULFATE PROTEOGLYCAN 6; CSPG6 Gene map locus 10q25 (link from Ensembl BioMart) ENSP00000354720 ORTHOMCL1965 jaccard_3
606063: OMIM gene: EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1 Gene map locus 1q42-q43 (link from Ensembl BioMart) ENSP00000284576 ORTHOMCL2370 jaccard_868
ENSP00000311873 ORTHOMCL2370 jaccard_868
606064: OMIM gene: TUMOR ENDOTHELIAL MARKER 1 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000308117 ORTHOMCL21154 jaccard_11235
606065: OMIM gene: CHEMOKINE, CC MOTIF, RECEPTOR-LIKE PROTEIN 1; CCRL1 Gene map locus 3q22 (link from Ensembl BioMart) ENSP00000249887 ORTHOMCL5764 jaccard_6
606066: OMIM gene: LIM HOMEOBOX GENE 9; LHX9 Gene map locus 1q31-q32 (link from Ensembl BioMart) ENSP00000337969 ORTHOMCL7143 jaccard_223
ENSP00000271609 jaccard_223
606067: OMIM gene: OTORAPLIN; OTOR Gene map locus 20p11 (link from Ensembl BioMart) ENSP00000246081 ORTHOMCL22479 jaccard_3209
606069: OMIM phenotype: HEMOCHROMATOSIS, TYPE 4; HFE4 Gene map locus 2q32 (link from NCBI) ENSP00000261024 ORTHOMCL6400 jaccard_3748
606072: OMIM phenotype: RIPPLING MUSCLE DISEASE; RMD RIPPLING MUSCLE DISEASE 2, INCLUDED; RMD2, INCLUDED Gene map locus 1q41, 3p25 (link from NCBI) ENSP00000331718 ORTHOMCL11107 jaccard_2635
ENSP00000341940 ORTHOMCL11107 jaccard_2635
606073: OMIM gene: NADPH-DEPENDENT DIFLAVIN OXIDOREDUCTASE 1; NDOR1 Gene map locus 9q34.3 (link from Ensembl BioMart) ENSP00000343344 ORTHOMCL5313 jaccard_390
606074: OMIM gene: GLOBOSIDE ALPHA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE; GBGT1 Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000277402 ORTHOMCL4918 jaccard_1124
606075: OMIM gene: CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2 Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000309595 ORTHOMCL7836 jaccard_5713
606076: OMIM gene: PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 3; PIK3R3 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000262741 ORTHOMCL4650 jaccard_1037
ENSP00000337328 ORTHOMCL4650 jaccard_1037
606077: OMIM gene: RNA-BINDING MOTIF PROTEIN 15; RBM15 RBM15/MKL1 FUSION GENE, INCLUDED Gene map locus 1p13 (link from Ensembl BioMart) ENSP00000341404 ORTHOMCL1583 jaccard_8545
606078: OMIM gene: MEGAKARYOBLASTIC LEUKEMIA 1 GENE; MKL1 MKL1/RBM15 FUSION GENE, INCLUDED Gene map locus 22q13 (link from Ensembl BioMart) ENSP00000347847 ORTHOMCL1321 jaccard_7811
606079: OMIM gene: CD163 ANTIGEN B Gene map locus 12p13.3 (link from Ensembl BioMart) ENSP00000315945 ORTHOMCL354 jaccard_186
606080: OMIM gene: ACIDIC MAMMALIAN CHITINASE (link from Ensembl BioMart) ENSP00000341828 ORTHOMCL628 jaccard_201
ENSP00000338970 ORTHOMCL21936 jaccard_201
ENSP00000271312 ORTHOMCL21936 jaccard_201
606081: OMIM gene: TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 70, YEAST, HOMOLOG OF, A; TOMM70A (link from Ensembl BioMart) ENSP00000284320 ORTHOMCL4312 jaccard_164
606083: OMIM gene: BRG1-ASSOCIATED FACTOR, 180-KD (link from Ensembl BioMart) ENSP00000338302 ORTHOMCL888 jaccard_259
ENSP00000349213 ORTHOMCL888 jaccard_259
ENSP00000296303 ORTHOMCL888 jaccard_259
ENSP00000296302 ORTHOMCL888 jaccard_259
606084: OMIM gene: CDC42 EFFECTOR PROTEIN 1; CDC42EP1 Gene map locus Chr.22 (link from Ensembl BioMart) ENSP00000346202 ORTHOMCL10609 jaccard_1943
ENSP00000249014 ORTHOMCL10609 jaccard_1943
606085: OMIM gene: TESTIS-DERIVED TRANSCRIPT; TES Gene map locus 7q31.2 (link from Ensembl BioMart) ENSP00000350937 ORTHOMCL5848 jaccard_37
ENSP00000257721 ORTHOMCL5848 jaccard_37
606086: OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 5B; EIF5B (link from Ensembl BioMart) ENSP00000289371 ORTHOMCL2400
606087: OMIM gene: DESMUSLIN; DMN Gene map locus Chr.15 (link from Ensembl BioMart) ENSP00000330469 ORTHOMCL5218 jaccard_4669
ENSP00000336775 ORTHOMCL5218 jaccard_4669
606090: OMIM gene: CARNITINE OCTANOYLTRANSFERASE; CROT Gene map locus 7q21.1 (link from Ensembl BioMart) ENSP00000331981 ORTHOMCL2598 jaccard_244
606091: OMIM gene: SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 10; SIGLEC10 (link from Ensembl BioMart) ENSP00000345243 ORTHOMCL770 jaccard_2
606092: OMIM gene: DOPAMINE RECEPTOR-INTERACTING PROTEIN, 78-KD Gene map locus 12q13.1-q13.2 (link from Ensembl BioMart) ENSP00000316240 ORTHOMCL2831 jaccard_4757
606093: OMIM gene: PEPTIDYL-PROLYL ISOMERASE G; PPIG Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000260970 ORTHOMCL2413 jaccard_0
606094: OMIM gene: SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN-LIKE PROTEIN 1; SIGLECL1 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000291707 ORTHOMCL5679 jaccard_2
606095: OMIM gene: PEPTIDYL-PROLYL ISOMERASE H; PPIH Gene map locus 1p34.1 (link from Ensembl BioMart) ENSP00000306614 ORTHOMCL4657 jaccard_98
606096: OMIM gene: LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 12 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000255684 ORTHOMCL6815 jaccard_169
606097: OMIM gene: PHOSPHATIDYLINOSITOL GLYCAN, CLASS N; PIGN Gene map locus 18q21.2 (link from Ensembl BioMart) ENSP00000350263 ORTHOMCL2311 jaccard_727
606098: OMIM gene: SORTING NEXIN 6; SNX6 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000347230 jaccard_283
ENSP00000355217 ORTHOMCL11141 jaccard_283
606099: OMIM gene: LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 8; LGALS8 Gene map locus 1q42-q43 (link from Ensembl BioMart) ENSP00000309576 ORTHOMCL8331 jaccard_169
ENSP00000319820 jaccard_169
ENSP00000342139 ORTHOMCL8331 jaccard_169
606100: OMIM gene: EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 2; EMR2 (link from Ensembl BioMart) ENSP00000319838 ORTHOMCL2026 jaccard_59
ENSP00000263380 ORTHOMCL2026 jaccard_59
ENSP00000319454 ORTHOMCL2026 jaccard_59
ENSP00000319883 ORTHOMCL2026 jaccard_59