Human disease genes 606101-606224

605989-606100 --- 606225-606358

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
606101: OMIM gene: EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 3; EMR3 (link from Ensembl BioMart) ENSP00000350374
ENSP00000253673 ORTHOMCL2026 jaccard_59
606102: OMIM gene: PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C (link from Ensembl BioMart) ENSP00000335333 ORTHOMCL273 jaccard_384
606103: OMIM gene: SESTRIN 1; SESN1 Gene map locus 6q21 (link from Ensembl BioMart) ENSP00000349061 ORTHOMCL6218 jaccard_1741
ENSP00000306734 ORTHOMCL6218 jaccard_1741
ENSP00000237504 ORTHOMCL6218 jaccard_1741
606105: OMIM gene: CHOLINE TRANSPORTER-LIKE PROTEIN 1 (link from Ensembl BioMart) ENSP00000354372 ORTHOMCL5669 jaccard_946
ENSP00000185520 ORTHOMCL5669 jaccard_946
606106: OMIM gene: CHOLINE TRANSPORTER-LIKE PROTEIN 2 (link from Ensembl BioMart) ENSP00000336888 ORTHOMCL2011 jaccard_946
606108: OMIM gene: PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1A; PPM1A (link from Ensembl BioMart) ENSP00000314850 ORTHOMCL20157 jaccard_86
ENSP00000327255 ORTHOMCL10051 jaccard_86
606109: OMIM gene: IMMUNOGENIC TUMOR ANTIGEN CML66 Gene map locus 8q23 (link from Ensembl BioMart) ENSP00000239690 ORTHOMCL2775 jaccard_2708
606110: OMIM gene: LY6/NEUROTOXIN 1; LYNX1 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000332495 ORTHOMCL16279 jaccard_652
ENSP00000319846 ORTHOMCL16279 jaccard_652
ENSP00000337950 ORTHOMCL11927 jaccard_652
606111: OMIM gene: MELANIN-CONCENTRATING HORMONE RECEPTOR 2; MCHR2 Gene map locus 6q16.2-q21 (link from Ensembl BioMart) ENSP00000281806 ORTHOMCL22505 jaccard_6
606112: OMIM gene: RIBONUCLEASE P, 14-KD SUBUNIT; RPP14 (link from Ensembl BioMart) ENSP00000295959 ORTHOMCL18382 jaccard_10019
606113: OMIM gene: PROCESSING OF PRECURSOR 7, S. CEREVISIAE, HOMOLOG OF; POP7 Gene map locus Chr.7 (link from Ensembl BioMart) ENSP00000304353 ORTHOMCL9236 jaccard_5956
606114: OMIM gene: PROCESSING OF PRECURSOR 4, S. CEREVISIAE, HOMOLOG OF; POP4 Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000221770 ORTHOMCL2753 jaccard_4511
606115: OMIM gene: RIBONUCLEASE P/MRP, 30-KD SUBUNIT; RPP30 Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000277882 ORTHOMCL5134 jaccard_5013
606116: OMIM gene: RIBONUCLEASE P/MRP, 38-KD SUBUNIT; RPP38 Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000282318 ORTHOMCL9708 jaccard_6889
606117: OMIM gene: RIBONUCLEASE P, 40-KD SUBUNIT; RPP40 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000317998 ORTHOMCL15960 jaccard_6807
606118: OMIM gene: HPS3 GENE; HPS3 Gene map locus 3q24 (link from Ensembl BioMart) ENSP00000296051 ORTHOMCL8623 jaccard_6946
606119: OMIM gene: SECRETED LY6/UPAR-RELATED PROTEIN 1 Gene map locus 8qter (link from Ensembl BioMart) ENSP00000246515 ORTHOMCL18943 jaccard_652
606121: OMIM gene: CALCITONIN GENE-RELATED PEPTIDE RECEPTOR COMPONENT PROTEIN Gene map locus 7q21.3-q22 (link from Ensembl BioMart) ENSP00000353589 ORTHOMCL8547 jaccard_5217
606122: OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 19; TNFRSF19 Gene map locus 13q12.11-q12.3 (link from Ensembl BioMart) ENSP00000345859 ORTHOMCL9837 jaccard_5293
ENSP00000248484 ORTHOMCL9837 jaccard_5293
606123: OMIM gene: RING FINGER PROTEIN 16; RNF16 Gene map locus 1q42 (link from Ensembl BioMart) ENSP00000347794 ORTHOMCL11084 jaccard_20
606124: OMIM gene: RING FINGER PROTEIN 18; RNF18 Gene map locus 11p11.12-q12 (link from Ensembl BioMart) ENSP00000327604 ORTHOMCL150 jaccard_20
606126: OMIM gene: APOPTOSIS REGULATOR BCLG Gene map locus 12p12 (link from Ensembl BioMart) ENSP00000266434 ORTHOMCL8805 jaccard_6193
ENSP00000309132 ORTHOMCL8805 jaccard_6193
ENSP00000298566 ORTHOMCL8805 jaccard_6193
606127: OMIM gene: MYOCARDIN; MYOCD Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000341835 ORTHOMCL8733 jaccard_1387
606130: OMIM gene: RING FINGER PROTEIN 26; RNF26 Gene map locus 11q23 (link from Ensembl BioMart) ENSP00000312439 ORTHOMCL14774 jaccard_9915
606131: OMIM gene: RING FINGER PROTEIN 28; RNF28 Gene map locus 1p34-p33 (link from Ensembl BioMart) ENSP00000288918 jaccard_20
606132: OMIM gene: CDC42 EFFECTOR PROTEIN 2; CDC42EP2 Gene map locus 11q12-q13 (link from Ensembl BioMart) ENSP00000279249 ORTHOMCL21908 jaccard_1943
606133: OMIM gene: CDC42 EFFECTOR PROTEIN 3; CDC42EP3 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000295324 ORTHOMCL20438 jaccard_1943
606134: OMIM gene: REV1, S. CEREVISIAE, HOMOLOG OF; REV1L (link from Ensembl BioMart) ENSP00000258428 ORTHOMCL3639 jaccard_2914
606135: OMIM gene: KALLIKREIN 14; KLK14 (link from Ensembl BioMart) ENSP00000156499 ORTHOMCL454 jaccard_10
606136: OMIM gene: RAS PROTEIN ACTIVATOR-LIKE 2; RASAL2 (link from Ensembl BioMart) ENSP00000329961 ORTHOMCL359 jaccard_629
ENSP00000263528 ORTHOMCL359 jaccard_629
606137: OMIM gene: CELL GROWTH REGULATORY GENE 11 (link from Ensembl BioMart) ENSP00000260595 ORTHOMCL22167 jaccard_14612
606138: OMIM gene: CELL GROWTH REGULATORY GENE 19 (link from Ensembl BioMart) ENSP00000216420 ORTHOMCL12653 jaccard_6966
606139: OMIM gene: KRUPPEL-LIKE FACTOR 16; KLF16 (link from Ensembl BioMart) ENSP00000250916 ORTHOMCL8239 jaccard_1128
606140: OMIM gene: EXPORTIN 7; XPO7 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000252512 ORTHOMCL5524 jaccard_2625
606142: OMIM gene: SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 9; SLC2A9 (link from Ensembl BioMart) ENSP00000264784 ORTHOMCL10809 jaccard_26
ENSP00000311383 ORTHOMCL10809 jaccard_26
606143: OMIM gene: FRIZZLED, DROSOPHILA, HOMOLOG OF, 3; FZD3 Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000240093 ORTHOMCL14693 jaccard_407
606144: OMIM gene: RAS-ASSOCIATED PROTEIN RAB23; RAB23 Gene map locus 6p11 (link from Ensembl BioMart) ENSP00000341643 ORTHOMCL8290 jaccard_8
ENSP00000320413 ORTHOMCL8290 jaccard_8
606145: OMIM gene: SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 10; SLC2A10 (link from Ensembl BioMart) ENSP00000352216 ORTHOMCL23767 jaccard_26
606146: OMIM gene: FRIZZLED, DROSOPHILA, HOMOLOG OF, 8; FZD8 Gene map locus 10p11.2 (link from Ensembl BioMart) ENSP00000315042 ORTHOMCL2889 jaccard_407
606147: OMIM gene: FRIZZLED, DROSOPHILA, HOMOLOG OF, 10; FZD10 Gene map locus 12q24.33 (link from Ensembl BioMart) ENSP00000229030 ORTHOMCL24854 jaccard_407
606148: OMIM gene: FATTY ACID DESATURASE 1; FADS1 (link from Ensembl BioMart) ENSP00000322229 ORTHOMCL2416 jaccard_1401
606149: OMIM gene: FATTY ACID DESATURASE 1; FADS2 (link from Ensembl BioMart) ENSP00000278840 ORTHOMCL2416 jaccard_1401
606150: OMIM gene: FATTY ACID DESATURASE 3; FADS3 (link from Ensembl BioMart) ENSP00000278829 ORTHOMCL2416 jaccard_1401
606151: OMIM gene: BBS2 GENE; BBS2 Gene map locus 16q21 (link from Ensembl BioMart) ENSP00000245157 ORTHOMCL13054 jaccard_6448
606152: OMIM gene: SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 3; SLC19A3 Gene map locus 2q36.3 (link from Ensembl BioMart) ENSP00000258403 ORTHOMCL1407 jaccard_728
606153: OMIM gene: ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, EPSILON SUBUNIT; ATP5E Gene map locus 20q13.3 (link from Ensembl BioMart) ENSP00000243997 ORTHOMCL2125 jaccard_2706
606157: OMIM gene: PANTOTHENATE KINASE 2; PANK2 Gene map locus 20p13-p12.3 (link from Ensembl BioMart) ENSP00000355197 ORTHOMCL12084 jaccard_886
ENSP00000313377 ORTHOMCL25013 jaccard_11123
ENSP00000336551 ORTHOMCL19293 jaccard_886
ENSP00000339290 ORTHOMCL19293 jaccard_886
606158: OMIM gene: BSCL2 GENE; BSCL2 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000301781 ORTHOMCL5459 jaccard_3004
ENSP00000354032 ORTHOMCL5459 jaccard_3004
606160: OMIM gene: PANTOTHENATE KINASE 1 (link from Ensembl BioMart) ENSP00000345118 ORTHOMCL1010 jaccard_886
ENSP00000318526 jaccard_886
606161: OMIM gene: PANTOTHENATE KINASE 3 (link from Ensembl BioMart) ENSP00000239231 ORTHOMCL22140 jaccard_886
606162: OMIM gene: PANTOTHENATE KINASE 4; PANK4 (link from Ensembl BioMart) ENSP00000288738 ORTHOMCL5206 jaccard_4796
606165: OMIM gene: BOL-LIKE; BOLL (link from Ensembl BioMart) ENSP00000314792 ORTHOMCL3376 jaccard_0
ENSP00000282278 ORTHOMCL3376 jaccard_0
606167: OMIM gene: G PROTEIN-COUPLED RECEPTOR 132; GPR132 Gene map locus 14q32.3 (link from Ensembl BioMart) ENSP00000328818 ORTHOMCL5517 jaccard_6
606168: OMIM gene: DEAD/H BOX 20; DDX20 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000181534 ORTHOMCL13931
606173: OMIM gene: GrpE, E. COLI, HOMOLOG OF, 1; GRPEL1 Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000264954 ORTHOMCL4043 jaccard_1494
606176: OMIM phenotype: DIABETES MELLITUS, PERMANENT NEONATAL; PNDM DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED Gene map locus 11p15.1, 7p15-p13 (link from NCBI) ENSP00000350996 ORTHOMCL206 jaccard_367
ENSP00000338009 ORTHOMCL206 jaccard_367
ENSP00000223366 ORTHOMCL206 jaccard_367
ENSP00000345708 jaccard_224
606178: OMIM gene: HEDGEHOG-INTERACTING PROTEIN; HHIP Gene map locus 4q28-q32 (link from Ensembl BioMart) ENSP00000296575 ORTHOMCL10956 jaccard_1071
606180: OMIM gene: EXOSOME COMPONENT 9; EXOSC9 Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000243498 ORTHOMCL2926 jaccard_1051
606181: OMIM gene: DEAD/H BOX 24; DDX24 Gene map locus 14q32 (link from Ensembl BioMart) ENSP00000328690 ORTHOMCL5488 jaccard_31
606182: OMIM gene: TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 9; TNFSF9 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000245817 ORTHOMCL24663 jaccard_10508
606184: OMIM gene: A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 12; ADAMTS12 Gene map locus 5q35 (link from Ensembl BioMart) ENSP00000344847 ORTHOMCL905 jaccard_41
606185: OMIM gene: TUMOR PROTEIN p53-INDUCIBLE NUCLEAR PROTEIN 1; TP53INP1 Gene map locus 8q22 (link from Ensembl BioMart) ENSP00000344215 ORTHOMCL13521 jaccard_5453
606186: OMIM gene: SIAH1-INTERACTING PROTEIN Gene map locus 1q24-q25 (link from Ensembl BioMart) ENSP00000338074 ORTHOMCL7417 jaccard_4187
606188: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 28; ADAM28 Gene map locus 8p12 (link from Ensembl BioMart) ENSP00000265769 ORTHOMCL5942 jaccard_41
606189: OMIM gene: CYSTEINE-RICH MOTOR NEURON PROTEIN 1; CRIM1 Gene map locus 2p22-p21 (link from Ensembl BioMart) ENSP00000280527 ORTHOMCL4773 jaccard_1633
606192: OMIM gene: BUTYROPHILIN-LIKE PROTEIN 3; BTNL3 Gene map locus 5q35 (link from Ensembl BioMart) ENSP00000341787 ORTHOMCL13443 jaccard_132
606193: OMIM gene: SOLUTE CARRIER FAMILY 13 (SODIUM/SULFATE SYMPORTER), MEMBER 1; SLC13A1 Gene map locus 7q31-q32 (link from Ensembl BioMart) ENSP00000194130 ORTHOMCL8435 jaccard_581
606194: OMIM gene: KERATIN 23; KRT23 (link from Ensembl BioMart) ENSP00000209718 ORTHOMCL22492 jaccard_0
606195: OMIM gene: IROQUOIS HOMEOBOX PROTEIN 5; IRX5 Gene map locus 16q11.2-q13 (link from Ensembl BioMart) ENSP00000316250 ORTHOMCL13924 jaccard_756
606196: OMIM gene: IROQUOIS HOMEOBOX PROTEIN 6; IRX6 Gene map locus 16q11.2-q13 (link from Ensembl BioMart) ENSP00000290552 ORTHOMCL14182 jaccard_756
606197: OMIM gene: IROQUOIS HOMEOBOX PROTEIN 1; IRX1 Gene map locus 5p15.3 (link from Ensembl BioMart) ENSP00000305244 ORTHOMCL11675 jaccard_756
606198: OMIM gene: IROQUOIS HOMEOBOX PROTEIN 2; IRX2 Gene map locus 5p15.3 (link from Ensembl BioMart) ENSP00000307006 ORTHOMCL8595 jaccard_756
606199: OMIM gene: IROQUOIS HOMEOBOX PROTEIN 4; IRX4 (link from Ensembl BioMart) ENSP00000231357 ORTHOMCL6219 jaccard_756
606200: OMIM gene: BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 3; BHLHB3 Gene map locus 12p12.1-p11.23 (link from Ensembl BioMart) ENSP00000242728 ORTHOMCL3258 jaccard_264
606201: OMIM gene: WFS1 GENE; WFS1 Gene map locus 4p16.1 (link from Ensembl BioMart) ENSP00000226760 ORTHOMCL9713 jaccard_4920
606202: OMIM gene: MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN; MATP PIGMENTATION OF HAIR, SKIN, AND EYES, VARIATION IN, INCLUDED Gene map locus 5p13.3 (link from Ensembl BioMart) ENSP00000296589 ORTHOMCL687 jaccard_569
606203: OMIM gene: GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2 Gene map locus 11q13.4-q13.5 (link from Ensembl BioMart) ENSP00000354952 ORTHOMCL6572 jaccard_1977
ENSP00000302452 ORTHOMCL6572 jaccard_1977
ENSP00000343959 ORTHOMCL6572 jaccard_1977
606204: OMIM gene: LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS D Gene map locus 8q24-qter (link from Ensembl BioMart) ENSP00000301263 ORTHOMCL20151 jaccard_652
606205: OMIM gene: SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, L-PROLINE), MEMBER 7; SLC6A7 Gene map locus 5q31-q32 (link from Ensembl BioMart) ENSP00000230671 ORTHOMCL21836 jaccard_89
606206: OMIM gene: METALLOTHIONEIN 4; MT4 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000219162 ORTHOMCL18333 jaccard_5
606207: OMIM gene: SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC28A1 Gene map locus 15q25-q26 (link from Ensembl BioMart) ENSP00000341629
ENSP00000286749 ORTHOMCL17615 jaccard_1546
606208: OMIM gene: SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC28A2 Gene map locus 15q15 (link from Ensembl BioMart) ENSP00000315006 ORTHOMCL1462 jaccard_1546
606209: OMIM gene: YKT6, S. CEREVISIAE, HOMOLOG OF (link from Ensembl BioMart) ENSP00000223369 ORTHOMCL4118 jaccard_480
606210: OMIM gene: SELENOPROTEIN N, 1; SEPN1 Gene map locus 1p36-p35 (link from Ensembl BioMart) ENSP00000355141 ORTHOMCL11389 jaccard_7281
606211: OMIM gene: SIRTUIN 6; SIRT6 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000337332 ORTHOMCL8064 jaccard_387
606212: OMIM gene: SIRTUIN 7; SIRT7 Gene map locus 17q (link from Ensembl BioMart) ENSP00000329466 ORTHOMCL9226 jaccard_387
606213: OMIM gene: SIGNAL SEQUENCE RECEPTOR, GAMMA; SSR3 (link from Ensembl BioMart) ENSP00000265044 ORTHOMCL8667 jaccard_5993
606214: OMIM gene: SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4 Gene map locus 19q13.13 (link from Ensembl BioMart) ENSP00000263373 ORTHOMCL219 jaccard_3
606216: OMIM gene: SELENOPROTEIN X, 1; SEPX1 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000355084 ORTHOMCL11227 jaccard_708
606217: OMIM phenotype: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, INCLUDED Gene map locus 3p25.3 (link from NCBI) ENSP00000295982 ORTHOMCL6451 jaccard_9253
ENSP00000321856 ORTHOMCL6451 jaccard_9253
606219: OMIM gene: HEAT-SHOCK PROTEIN, 75-KD Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000246957 ORTHOMCL6652 jaccard_515
606221: OMIM gene: ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 3; ZNFN1A3 Gene map locus 17q21 (link from Ensembl BioMart) ENSP00000345622 ORTHOMCL12278 jaccard_491
ENSP00000344544 ORTHOMCL12278 jaccard_491
ENSP00000344471 ORTHOMCL12278 jaccard_491
ENSP00000341977 ORTHOMCL12278 jaccard_491
ENSP00000293068 ORTHOMCL23936 jaccard_491
ENSP00000339964 jaccard_491
606222: OMIM gene: IMMUNOGLOBULIN SUPERFAMILY, MEMBER 6; IGSF6 Gene map locus 16p13 (link from Ensembl BioMart) ENSP00000268389 ORTHOMCL19594 jaccard_14227
606223: OMIM gene: PROTEASOME 26S SUBUNIT, NON-ATPASE, 2; PSMD2 Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000310129 ORTHOMCL3857 jaccard_1529
606224: OMIM gene: 5-PRIME-@NUCLEOTIDASE, CYTOSOLIC III; NT5C3 Gene map locus 7p15-p14 (link from Ensembl BioMart) ENSP00000242210 ORTHOMCL5157 jaccard_2137