Human disease genes 604829-604941

604718-604828 --- 604942-605052

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
604829: OMIM gene: DOWN SYNDROME CRITICAL REGION GENE 4; DSCR4 Gene map locus 21q22.2 (link from Ensembl BioMart) ENSP00000328676
604831: OMIM gene: EVC GENE; EVC Gene map locus 4p16 (link from Ensembl BioMart) ENSP00000264956 ORTHOMCL20318
604832: OMIM gene: CARBONIC ANHYDRASE XIV; CA14 Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000237041 ORTHOMCL19634 jaccard_171
604833: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 27; CCL27 Gene map locus 9p13 (link from Ensembl BioMart) ENSP00000259631 ORTHOMCL8284 jaccard_3962
604834: OMIM gene: TANK-BINDING KINASE 1; TBK1 (link from Ensembl BioMart) ENSP00000329967 ORTHOMCL6355 jaccard_1103
604835: OMIM gene: DUAL-SPECIFICITY PHOSPHATASE 12; DUSP12 Gene map locus 1q21-q22 (link from Ensembl BioMart) ENSP00000194039 ORTHOMCL4879 jaccard_4987
604836: OMIM gene: CHEMOKINE, CC MOTIF, RECEPTOR 4; CCR4 Gene map locus 3p24 (link from Ensembl BioMart) ENSP00000332659 ORTHOMCL2221 jaccard_6
604837: OMIM gene: G PROTEIN-COUPLED RECEPTOR 44; GPR44 Gene map locus 11q12-q13.3 (link from Ensembl BioMart) ENSP00000332812 ORTHOMCL18139 jaccard_6
604838: OMIM gene: G PROTEIN-COUPLED RECEPTOR 45; GPR45 Gene map locus 2q11.2-q12 (link from Ensembl BioMart) ENSP00000258456 ORTHOMCL22524 jaccard_5679
604839: OMIM gene: FK506-BINDING PROTEIN 6; FKBP6 Gene map locus 7q11.23 (link from Ensembl BioMart) ENSP00000252037 ORTHOMCL7674 jaccard_155
604840: OMIM gene: FK506-BINDING PROTEIN 8; FKBP8 Gene map locus 19p12 (link from Ensembl BioMart) ENSP00000222308 ORTHOMCL9438 jaccard_155
604841: OMIM phenotype: STICKLER SYNDROME, TYPE II; STL2 Gene map locus 1p21 (link from NCBI) ENSP00000351163 ORTHOMCL106 jaccard_0
ENSP00000302551 ORTHOMCL106 jaccard_0
ENSP00000193186 ORTHOMCL106 jaccard_0
604842: OMIM gene: SOLUTE CARRIER FAMILY 22 (EXTRANEURONAL MONOAMINE TRANSPORTER), MEMBER 3; SLC22A3 Gene map locus 6q27 (link from Ensembl BioMart) ENSP00000275300 ORTHOMCL395 jaccard_26
604843: OMIM gene: SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1 (link from Ensembl BioMart) ENSP00000256958 ORTHOMCL8382 jaccard_262
604844: OMIM gene: HEPARAN SULFATE 2-O-SULFOTRANSFERASE 1; HS2ST1 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000284064 ORTHOMCL6094 jaccard_1032
604846: OMIM gene: HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1; HS6ST1 Gene map locus 2q21 (link from Ensembl BioMart) ENSP00000259241 ORTHOMCL12603 jaccard_1792
604847: OMIM gene: G PROTEIN-COUPLED RECEPTOR 26; GPR26 Gene map locus 10q26.2-q26.3 (link from Ensembl BioMart) ENSP00000284674 ORTHOMCL14568 jaccard_19
604849: OMIM gene: TRACE AMINE-ASSOCIATED RECEPTOR 2; TAAR2 Gene map locus 6q24 (link from Ensembl BioMart) ENSP00000275191 ORTHOMCL5589 jaccard_19
604850: OMIM gene: COP9, SUBUNIT 5; COPS5 (link from Ensembl BioMart) ENSP00000350512 ORTHOMCL2687 jaccard_753
604851: OMIM gene: G-RICH RNA SEQUENCE-BINDING FACTOR 1; GRSF1 (link from Ensembl BioMart) ENSP00000254799 ORTHOMCL10431 jaccard_255
604852: OMIM gene: CHEMOKINE, CXC MOTIF, LIGAND 11; CXCL11 Gene map locus 4q21.2 (link from Ensembl BioMart) ENSP00000306884 ORTHOMCL2958 jaccard_514
604853: OMIM gene: MELANOMA-ASSOCIATED ANTIGEN RECOGNIZED BY T LYMPHOCYTES; MAAT1 (link from Ensembl BioMart) ENSP00000199706 ORTHOMCL4649 jaccard_6271
604854: OMIM gene: INDOLETHYLAMINE N-METHYLTRANSFERASE; INMT Gene map locus 7p15.3-p15.2 (link from Ensembl BioMart) ENSP00000013222 ORTHOMCL4070 jaccard_2591
604857: OMIM gene: SIGNAL RECOGNITION PARTICLE, 54-KD; SRP54 (link from Ensembl BioMart) ENSP00000216774 ORTHOMCL3198 jaccard_2429
604858: OMIM gene: SIGNAL RECOGNITION PARTICLE, 68-KD; SRP68 Gene map locus 17q25.1 (link from Ensembl BioMart) ENSP00000312066 ORTHOMCL5029 jaccard_3848
604859: OMIM gene: LIM AND CYSTEINE-RICH DOMAINS 1; LMCD1 Gene map locus 3p26-p24 (link from Ensembl BioMart) ENSP00000157600 ORTHOMCL14044 jaccard_37
604860: OMIM gene: MUCOSA-ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1; MALT1 Gene map locus 18q21 (link from Ensembl BioMart) ENSP00000304161 ORTHOMCL7243 jaccard_5211
ENSP00000319279 ORTHOMCL7243 jaccard_5211
604861: OMIM gene: LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; LATS2 Gene map locus 13q11-q12 (link from Ensembl BioMart) ENSP00000279994 ORTHOMCL7589 jaccard_3052
604862: OMIM gene: CD207 ANTIGEN; CD207 Gene map locus 2p13 (link from Ensembl BioMart) ENSP00000234388 ORTHOMCL17891 jaccard_454
604863: OMIM gene: LECITHIN RETINOL ACYLTRANSFERASE; LRAT RETINAL DYSTROPHY, EARLY-ONSET SEVERE, INCLUDED Gene map locus 4q31 (link from Ensembl BioMart) ENSP00000337224 ORTHOMCL10037 jaccard_1483
604864: OMIM phenotype: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (link from Ensembl BioMart) ENSP00000338213 ORTHOMCL106 jaccard_0
604865: OMIM gene: KRUPPEL-LIKE FACTOR 7; KLF7 Gene map locus 2q32 (link from Ensembl BioMart) ENSP00000309570 ORTHOMCL6486 jaccard_7804
604866: OMIM gene: PLEOMORPHIC ADENOMA GENE-LIKE 2; PLAGL2 (link from Ensembl BioMart) ENSP00000246229 ORTHOMCL10881 jaccard_4416
604867: OMIM gene: TASTE RECEPTOR, TYPE 2, MEMBER 16; TAS2R16 Gene map locus Chr.7 (link from Ensembl BioMart) ENSP00000249284 ORTHOMCL24440 jaccard_277
604868: OMIM gene: TASTE RECEPTOR, TYPE 2, MEMBER 3; TAS2R3 Gene map locus 7q31.3-q32 (link from Ensembl BioMart) ENSP00000247879 ORTHOMCL23422 jaccard_277
604869: OMIM gene: TASTE RECEPTOR, TYPE 2, MEMBER 4; TAS2R4 Gene map locus 7q31.3-q32 (link from Ensembl BioMart) ENSP00000247881 ORTHOMCL23692 jaccard_277
604870: OMIM gene: MACROPHAGE RECEPTOR WITH COLLAGENOUS STRUCTURE; MARCO (link from Ensembl BioMart) ENSP00000318916 ORTHOMCL18530 jaccard_0
604871: OMIM gene: MATRIX METALLOPROTEINASE 24; MMP24 Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000246186 ORTHOMCL10768 jaccard_144
604872: OMIM gene: PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 7; PCSK7 (link from Ensembl BioMart) ENSP00000325917 ORTHOMCL1183 jaccard_363
604873: OMIM gene: EPITHELIAL V-LIKE ANTIGEN 1; EVA1 Gene map locus 11q24 (link from Ensembl BioMart) ENSP00000278937 ORTHOMCL16205 jaccard_901
604874: OMIM gene: KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY G, MEMBER 1; KLRG1 Gene map locus 12p13-p12 (link from Ensembl BioMart) ENSP00000349477 ORTHOMCL13946 jaccard_23
604875: OMIM gene: MYOSIN IXA; MYO9A Gene map locus 15q22-q23 (link from Ensembl BioMart) ENSP00000348349 ORTHOMCL1329 jaccard_3
604876: OMIM gene: THYROID HORMONE-RESPONSIVE GENE ZAKI4; ZAKI4 (link from Ensembl BioMart) ENSP00000329454 ORTHOMCL15841 jaccard_1597
604877: OMIM gene: V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN F; MAFF Gene map locus 22q12.2-q13.2 (link from Ensembl BioMart) ENSP00000345393 ORTHOMCL24184 jaccard_2337
604878: OMIM gene: SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 6; SLC12A6 POTASSIUM-CHLORIDE COTRANSPORTER 3, ISOFORM A, INCLUDED; KCC3A, INCLUDED Gene map locus 15q13-q14 (link from Ensembl BioMart) ENSP00000290209 ORTHOMCL333 jaccard_287
ENSP00000346112 ORTHOMCL333 jaccard_287
604879: OMIM gene: SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 7; SLC12A7 Gene map locus 5p15.3 (link from Ensembl BioMart) ENSP00000264930 ORTHOMCL333 jaccard_287
604880: OMIM gene: MALE-SPECIFIC LETHAL 3-LIKE 1; MSL3L1 Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000338120 jaccard_634
ENSP00000338078 jaccard_634
ENSP00000312244 ORTHOMCL10852 jaccard_634
ENSP00000354562 jaccard_634
604881: OMIM gene: RABPHILIN 3A-LIKE; RPH3AL Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000319210 ORTHOMCL9397 jaccard_8565
604882: OMIM gene: NEUROGENIN 3; NEUROG3 (link from Ensembl BioMart) ENSP00000242462 ORTHOMCL19609 jaccard_507
604883: OMIM gene: GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 2; GTF3C2 (link from Ensembl BioMart) ENSP00000264720 ORTHOMCL4477 jaccard_3951
ENSP00000352536 ORTHOMCL4477 jaccard_3951
604884: OMIM gene: NEVER IN MITOSIS GENE A-RELATED KINASE 6; NEK6 Gene map locus 9q33.3-q34.11 (link from Ensembl BioMart) ENSP00000319734 ORTHOMCL13738 jaccard_2842
ENSP00000238356 ORTHOMCL13738 jaccard_2842
604885: OMIM gene: MYB-BINDING PROTEIN 1A; MYBBP1A Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000254718 ORTHOMCL6728 jaccard_8191
604886: OMIM gene: COX4, NEIGHBOR OF; NOC4 Gene map locus 16q22-qter (link from Ensembl BioMart) ENSP00000253457 ORTHOMCL3073 jaccard_2767
604887: OMIM gene: METHYLENETETRAHYDROFOLATE DEHYDROGENASE 2; MTHFD2 (link from Ensembl BioMart) ENSP00000264090 ORTHOMCL8237 jaccard_1323
604888: OMIM gene: GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 3; GTF3C3 (link from Ensembl BioMart) ENSP00000263956 ORTHOMCL4661 jaccard_3575
604889: OMIM gene: NEUROBEACHIN; NBEA FRAGILE SITE FRA13A, INCLUDED Gene map locus 13q13.2 (link from Ensembl BioMart) ENSP00000308534 ORTHOMCL309 jaccard_425
604890: OMIM gene: GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 5; GTF3C5 (link from Ensembl BioMart) ENSP00000277434 ORTHOMCL5036 jaccard_4110
604891: OMIM gene: NCK-ASSOCIATED PROTEIN 1; NCKAP1 Gene map locus 2q32.1-q32.2 (link from Ensembl BioMart) ENSP00000354251 ORTHOMCL1865 jaccard_2106
ENSP00000355348 ORTHOMCL1865 jaccard_2106
604892: OMIM gene: GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 4; GTF3C4 (link from Ensembl BioMart) ENSP00000245590 ORTHOMCL10383 jaccard_6559
604894: OMIM gene: ONE CUT DOMAIN, FAMILY MEMBER 2; ONECUT2 Gene map locus 18q21.1-q21.2 (link from Ensembl BioMart) ENSP00000262095 ORTHOMCL17145 jaccard_2454
604895: OMIM gene: T-BOX 21; TBX21 (link from Ensembl BioMart) ENSP00000177694 ORTHOMCL21831 jaccard_166
604896: OMIM gene: MKKS GENE; MKKS Gene map locus 20p12 (link from Ensembl BioMart) ENSP00000246062 ORTHOMCL15895 jaccard_115
604897: OMIM gene: PREFOLDIN 1; PFDN1 (link from Ensembl BioMart) ENSP00000261813 ORTHOMCL4835 jaccard_3697
604898: OMIM gene: PREFOLDIN 4; PFDN4 (link from Ensembl BioMart) ENSP00000217103 ORTHOMCL3906 jaccard_3182
604899: OMIM gene: PREFOLDIN 5; PFDN5 (link from Ensembl BioMart) ENSP00000266964 jaccard_1206
ENSP00000334188 ORTHOMCL2434 jaccard_1206
ENSP00000243040
604900: OMIM gene: DIACYLGLYCEROL O-ACYLTRANSFERASE 1; DGAT1 Gene map locus 8qter (link from Ensembl BioMart) ENSP00000332258 ORTHOMCL1508 jaccard_912
604901: OMIM phenotype: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC Gene map locus 16q22 (link from NCBI) ENSP00000327179 ORTHOMCL3183 jaccard_3391
604902: OMIM gene: BRF1, S. CEREVISIAE, HOMOLOG OF; BRF1 Gene map locus 14q (link from Ensembl BioMart) ENSP00000329029 ORTHOMCL2859 jaccard_3412
ENSP00000333220
604903: OMIM gene: TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1A; TAF1A Gene map locus 1q42 (link from Ensembl BioMart) ENSP00000327072 ORTHOMCL4243 jaccard_3139
ENSP00000346696 ORTHOMCL4243 jaccard_3139
ENSP00000337568 ORTHOMCL4243 jaccard_3139
604904: OMIM gene: TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1B; TAF1B Gene map locus 2p25 (link from Ensembl BioMart) ENSP00000263663 ORTHOMCL7835 jaccard_5971
604905: OMIM gene: TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1C; TAF1C Gene map locus 16q24 (link from Ensembl BioMart) ENSP00000345305 ORTHOMCL15197 jaccard_7708
604907: OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000261652 ORTHOMCL14391 jaccard_8189
604908: OMIM gene: PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 1; PPP4R1 Gene map locus Chr.18 (link from Ensembl BioMart) ENSP00000285124 ORTHOMCL5635 jaccard_881
604909: OMIM gene: CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 2; CNOT2 (link from Ensembl BioMart) ENSP00000229195 ORTHOMCL1803 jaccard_2463
604910: OMIM gene: CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 3; CNOT3 (link from Ensembl BioMart) ENSP00000221232 ORTHOMCL2686 jaccard_9271
604911: OMIM gene: CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 4; CNOT4 (link from Ensembl BioMart) ENSP00000326731 ORTHOMCL602 jaccard_2150
604912: OMIM gene: TAF2 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 150-KD; TAF2 (link from Ensembl BioMart) ENSP00000181506 ORTHOMCL5031 jaccard_3667
604913: OMIM gene: CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 7; CNOT7 (link from Ensembl BioMart) ENSP00000354452 jaccard_869
604914: OMIM gene: PHOSPHATIDYLSERINE RECEPTOR (link from Ensembl BioMart) ENSP00000302916 ORTHOMCL5332 jaccard_911
ENSP00000345857 ORTHOMCL5332 jaccard_911
604915: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 13; MAP3K13 Gene map locus 3q25-q29 (link from Ensembl BioMart) ENSP00000265026 ORTHOMCL22297 jaccard_574
604917: OMIM gene: NEGATIVE REGULATOR OF TRANSCRIPTION 1, S. CEREVISIAE, HOMOLOG OF; NOT1 (link from Ensembl BioMart) ENSP00000320949 ORTHOMCL2732 jaccard_3723
604918: OMIM gene: PICCOLO, MOUSE, HOMOLOG OF; PCLO Gene map locus 7q11.23-q21.1 (link from Ensembl BioMart) ENSP00000334319 ORTHOMCL2057 jaccard_13890
604921: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 3; MAP4K3 (link from Ensembl BioMart) ENSP00000263881 ORTHOMCL707 jaccard_149
604923: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 5; MAP4K5 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000013125 ORTHOMCL707 jaccard_149
604924: OMIM gene: RNA, U SMALL NUCLEAR, EXPORT ADAPTOR; RNUXA (link from Ensembl BioMart) ENSP00000297540 ORTHOMCL6460 jaccard_4902
604925: OMIM gene: RAB ACCEPTOR 1; RABAC1 Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000222008 ORTHOMCL729 jaccard_1140
604926: OMIM gene: PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, BETA ISOFORM; PCYT1B (link from Ensembl BioMart) ENSP00000265783 ORTHOMCL632 jaccard_523
604927: OMIM gene: C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; CTDP1 TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1, ISOFORM A, INCLUDED; FCP1A, INCLUDED Gene map locus 18q23 (link from Ensembl BioMart) ENSP00000075430 ORTHOMCL812 jaccard_5690
ENSP00000299543 ORTHOMCL812 jaccard_5690
604929: OMIM phenotype: EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3 Gene map locus 1q21.2 (link from NCBI) ENSP00000310687 ORTHOMCL1082 jaccard_0
ENSP00000292304 ORTHOMCL1082 jaccard_0
ENSP00000355292 ORTHOMCL1082 jaccard_0
604930: OMIM gene: NCK ADAPTOR PROTEIN 2; NCK2 Gene map locus 2q12 (link from Ensembl BioMart) ENSP00000233154 ORTHOMCL5070 jaccard_219
604931: OMIM phenotype: CORTISONE REDUCTASE DEFICIENCY Gene map locus 1q32-q41, 1pter-p36.13 (link from NCBI) ENSP00000261465 ORTHOMCL511 jaccard_21
ENSP00000054661 ORTHOMCL13077 jaccard_1199
604932: OMIM gene: PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR GAMMA; PKIG Gene map locus 20q (link from Ensembl BioMart) ENSP00000338067 ORTHOMCL16974 jaccard_2476
604933: OMIM gene: MutY, E. COLI, HOMOLOG OF; MUTYH Gene map locus 1p34.3-p32.1 (link from Ensembl BioMart) ENSP00000255122 ORTHOMCL2635 jaccard_2579
604934: OMIM gene: TUBULIN-SPECIFIC CHAPERONE E; TBCE Gene map locus 1q42-q43 (link from Ensembl BioMart) ENSP00000264180 ORTHOMCL3744 jaccard_1588
604935: OMIM gene: DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 2; DMRT2 Gene map locus 9p24.3 (link from Ensembl BioMart) ENSP00000350865 ORTHOMCL22599 jaccard_14799
ENSP00000305785 ORTHOMCL9811 jaccard_7103
ENSP00000259622 ORTHOMCL22599 jaccard_14799
604936: OMIM gene: KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 1; KIR2DL1 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000336769 ORTHOMCL306 jaccard_2
604937: OMIM gene: KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 2; KIR2DL2 Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000336769 ORTHOMCL306 jaccard_2
604939: OMIM gene: PHOSPHOLIPASE A2 RECEPTOR 1; PLA2R1 Gene map locus 2q23-q24 (link from Ensembl BioMart) ENSP00000283243 ORTHOMCL6217 jaccard_23
604941: OMIM gene: PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, ALPHA; PPP2R2A (link from Ensembl BioMart) ENSP00000325074 ORTHOMCL498 jaccard_549