Human disease genes 179618-181350

176882-179617 --- 181450-184756

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
179618: OMIM gene: RECOVERIN; RCV1 Gene map locus 17p13.1 (link from Ensembl BioMart) ENSP00000226193 ORTHOMCL14370 jaccard_16
179620: OMIM phenotype: RAPH BLOOD GROUP SYSTEM Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000324101 ORTHOMCL12919 jaccard_75
179710: OMIM gene: REGULATOR OF CHROMOSOME CONDENSATION 1; RCC1 Gene map locus 1p36.1 (link from Ensembl BioMart) ENSP00000345919 ORTHOMCL3331 jaccard_231
179730: OMIM gene: RELAXIN 1; RLN1 Gene map locus 9pter-q12 (link from Ensembl BioMart) ENSP00000223862 ORTHOMCL13299 jaccard_5129
179740: OMIM gene: RELAXIN 2; RLN2 Gene map locus 9pter-q12 (link from Ensembl BioMart) ENSP00000340114 ORTHOMCL13299 jaccard_5129
ENSP00000308018 ORTHOMCL19163 jaccard_13533
179755: OMIM gene: RENAL CELL CARCINOMA, PAPILLARY, 1 GENE; PRCC PRCC/TFE3 FUSION GENE, INCLUDED Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000339300 ORTHOMCL6796 jaccard_9007
ENSP00000271526 ORTHOMCL6796 jaccard_9007
179780: OMIM gene: DIPEPTIDASE 1; DPEP1 Gene map locus 16q24.3 (link from Ensembl BioMart) ENSP00000261615 ORTHOMCL2676 jaccard_1919
179800: OMIM phenotype: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT Gene map locus 17q21-q22 (link from Ensembl BioMart) ENSP00000262418 ORTHOMCL299 jaccard_158
179835: OMIM gene: REPLICATION PROTEIN A1, 70-KD; RPA1 Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000254719 ORTHOMCL1856 jaccard_604
179836: OMIM gene: REPLICATION PROTEIN A2, 32-KD; RPA2 Gene map locus 1p35 (link from Ensembl BioMart) ENSP00000263698 ORTHOMCL5566 jaccard_3439
179837: OMIM gene: REPLICATION PROTEIN A3, 14-KD; RPA3 Gene map locus 7p22 (link from Ensembl BioMart) ENSP00000223129 ORTHOMCL12468 jaccard_7529
179838: OMIM gene: RESTIN; RSN Gene map locus 12q24.31-q24.33 (link from Ensembl BioMart) ENSP00000351665 ORTHOMCL728 jaccard_3
ENSP00000355314 ORTHOMCL728 jaccard_3
179850: OMIM phenotype: DOWLING-DEGOS DISEASE; DDD Gene map locus 12q13 (link from NCBI) ENSP00000252242 ORTHOMCL2248 jaccard_0
180069: OMIM gene: RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65 RETINITIS PIGMENTOSA 20, INCLUDED; RP20, INCLUDED Gene map locus 1p31 (link from Ensembl BioMart) ENSP00000262340 ORTHOMCL12456 jaccard_733
180071: OMIM gene: PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A Gene map locus 5q31.2-q34 (link from Ensembl BioMart) ENSP00000255266 ORTHOMCL2928 jaccard_67
180072: OMIM gene: PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B Gene map locus 4p16.3 (link from Ensembl BioMart) ENSP00000255622 ORTHOMCL2928 jaccard_67
180073: OMIM gene: PHOSPHODIESTERASE 6G, cGMP-SPECIFIC, ROD, GAMMA; PDE6G Gene map locus 17q25 (link from Ensembl BioMart) ENSP00000328412 ORTHOMCL16223 jaccard_5046
180090: OMIM gene: RETINALDEHYDE-BINDING PROTEIN 1; RLBP1 Gene map locus 15q26 (link from Ensembl BioMart) ENSP00000268125 ORTHOMCL8645 jaccard_121
180100: OMIM phenotype: RETINITIS PIGMENTOSA 1; RP1 Gene map locus 8q11-q13 (link from NCBI) ENSP00000220676 ORTHOMCL13496
180104: OMIM phenotype: RETINITIS PIGMENTOSA 9; RP9 Gene map locus 7p14.2 (link from NCBI) ENSP00000297157 ORTHOMCL17377 jaccard_12442
180105: OMIM phenotype: RETINITIS PIGMENTOSA 10; RP10 Gene map locus 7q31.3-q32, 7q31-q35 (link from NCBI) ENSP00000346219 ORTHOMCL475 jaccard_501
ENSP00000345096 ORTHOMCL475 jaccard_501
ENSP00000265385 ORTHOMCL475 jaccard_501
180190: OMIM gene: RETINOIC ACID RECEPTOR, GAMMA; RARG Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000332695 ORTHOMCL21010 jaccard_18
ENSP00000343698 ORTHOMCL16011 jaccard_18
180200: OMIM gene: RETINOBLASTOMA; RB1 OSTEOSARCOMA, RETINOBLASTOMA-RELATED, INCLUDED Gene map locus 13q14.1-q14.2 (link from Ensembl BioMart) ENSP00000267163 ORTHOMCL13307 jaccard_2212
180201: OMIM gene: AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 4A; ARID4A (link from Ensembl BioMart) ENSP00000344556 ORTHOMCL12876 jaccard_13819
ENSP00000347602 ORTHOMCL12876 jaccard_13819
180202: OMIM gene: JUMONJI, AT-RICH INTERACTIVE DOMAIN 1A; JARID1A Gene map locus 12p11 (link from Ensembl BioMart) ENSP00000261253 ORTHOMCL408 jaccard_1159
180203: OMIM gene: RETINOBLASTOMA-LIKE 2; RBL2 Gene map locus 16q12.2 (link from Ensembl BioMart) ENSP00000262133 ORTHOMCL3228 jaccard_2212
180220: OMIM gene: RETINOIC ACID RECEPTOR, BETA; RARB HEPATITIS B VIRUS ACTIVATED PROTEIN, INCLUDED Gene map locus 3p24 (link from Ensembl BioMart) ENSP00000332296 ORTHOMCL13643 jaccard_18
ENSP00000264330 ORTHOMCL15993 jaccard_18
180230: OMIM gene: RETINOIC ACID-BINDING PROTEIN, CELLULAR, TYPE I; CRABP1 Gene map locus 15q24 (link from Ensembl BioMart) ENSP00000299529 ORTHOMCL11125 jaccard_242
180231: OMIM gene: RETINOIC ACID-BINDING PROTEIN, CELLULAR, TYPE II; CRABP2 Gene map locus 1q21.3 (link from Ensembl BioMart) ENSP00000271558 ORTHOMCL11100 jaccard_242
180240: OMIM gene: RETINOIC ACID RECEPTOR, ALPHA; RARA RARA/PML FUSION GENE, INCLUDED Gene map locus 17q21.1 (link from Ensembl BioMart) ENSP00000254066 ORTHOMCL9139 jaccard_18
180245: OMIM gene: RETINOID X RECEPTOR, ALPHA; RXRA Gene map locus 9q34.3 (link from Ensembl BioMart) ENSP00000348749
ENSP00000335676 ORTHOMCL13125 jaccard_18
180247: OMIM gene: RETINOID X RECEPTOR, GAMMA; RXRG Gene map locus 1q22-q23 (link from Ensembl BioMart) ENSP00000271387 ORTHOMCL16103 jaccard_18
180250: OMIM gene: RETINOL-BINDING PROTEIN 4; RBP4 RETINOL-BINDING PROTEIN DEFICIENCY, INCLUDED Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000260780 ORTHOMCL13005 jaccard_2081
180260: OMIM gene: RETINOL-BINDING PROTEIN 1; RBP1 Gene map locus 3q21-q22 (link from Ensembl BioMart) ENSP00000232219 ORTHOMCL11080 jaccard_242
180280: OMIM gene: RETINOL-BINDING PROTEIN 2; RBP2 Gene map locus 3q21-qter (link from Ensembl BioMart) ENSP00000232217 ORTHOMCL15583 jaccard_242
180290: OMIM gene: RETINOL-BINDING PROTEIN 3; RBP3 Gene map locus 10q11.2 (link from Ensembl BioMart) ENSP00000224600 ORTHOMCL21830 jaccard_10827
180297: OMIM gene: RHESUS BLOOD GROUP-ASSOCIATED GLYCOPROTEIN; RHAG Gene map locus 6p21.1-p11 (link from Ensembl BioMart) ENSP00000274818 ORTHOMCL6979 jaccard_687
180300: OMIM phenotype: RHEUMATOID ARTHRITIS; RA Gene map locus 21q22.3, 1q31-q32, 16p13, 1p13, 6p21.3, 5q31, 1p36 (link from NCBI) ENSP00000346621 ORTHOMCL7822
ENSP00000352833 ORTHOMCL7822 jaccard_4863
ENSP00000312002 ORTHOMCL16196 jaccard_2848
ENSP00000316328 ORTHOMCL14906 jaccard_190
ENSP00000256635 ORTHOMCL7822 jaccard_4863
ENSP00000300305 ORTHOMCL7048 jaccard_1268
ENSP00000319459 ORTHOMCL7048 jaccard_1268
ENSP00000259152 ORTHOMCL12190 jaccard_1833
ENSP00000265959 ORTHOMCL1229 jaccard_101
ENSP00000200652 ORTHOMCL19837 jaccard_26
ENSP00000290507 ORTHOMCL21468 jaccard_2481
ENSP00000324173 jaccard_101
180370: OMIM gene: THIOSULFATE SULFURTRANSFERASE; TST Gene map locus 22q11.2-qter (link from Ensembl BioMart) ENSP00000249042 ORTHOMCL727 jaccard_1198
180380: OMIM gene: RHODOPSIN; RHO RETINITIS PIGMENTOSA 4, INCLUDED; RP4, INCLUDED Gene map locus 3q21-q24 (link from Ensembl BioMart) ENSP00000296271 ORTHOMCL16627 jaccard_6
180381: OMIM gene: RHODOPSIN KINASE; RHOK Gene map locus 13q34 (link from Ensembl BioMart) ENSP00000334876 ORTHOMCL15109
180385: OMIM gene: LIM DOMAIN ONLY 2; LMO2 Gene map locus 11p13 (link from Ensembl BioMart) ENSP00000257818 ORTHOMCL12763 jaccard_37
180386: OMIM gene: LIM DOMAIN ONLY 3; LMO3 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000261169 ORTHOMCL2116 jaccard_37
ENSP00000346689 ORTHOMCL2116 jaccard_37
180390: OMIM gene: RIBONUCLEOTIDE REDUCTASE, M2 SUBUNIT; RRM2 Gene map locus 2p25-p24 (link from Ensembl BioMart) ENSP00000302955 ORTHOMCL2874 jaccard_1891
ENSP00000353770
180410: OMIM gene: RIBONUCLEOTIDE REDUCTASE, M1 SUBUNIT; RRM1 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000300738 ORTHOMCL3802 jaccard_3479
180430: OMIM gene: RIBOSE 5-PHOSPHATE ISOMERASE A; RPIA Gene map locus 2p11.2 (link from Ensembl BioMart) ENSP00000283646 ORTHOMCL2540 jaccard_2091
180435: OMIM gene: RIBONUCLEASE L; RNASEL Gene map locus 1q25 (link from Ensembl BioMart) ENSP00000258306 ORTHOMCL13215
180440: OMIM gene: RIBONUCLEASE A FAMILY, 1; RNASE1 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000344193 ORTHOMCL14208 jaccard_788
180460: OMIM gene: RIBOSOMAL PROTEIN S6; RPS6 Gene map locus 9p21 (link from Ensembl BioMart) ENSP00000346006 ORTHOMCL1957 jaccard_985
180465: OMIM gene: RIBOSOMAL PROTEIN S25; RPS25 Gene map locus 11q23.3 (link from Ensembl BioMart) ENSP00000236900 ORTHOMCL1114 jaccard_885
180466: OMIM gene: RIBOSOMAL PROTEIN L19; RPL19 Gene map locus 17q11 (link from Ensembl BioMart) ENSP00000225430 ORTHOMCL2211 jaccard_857
180467: OMIM gene: RIBOSOMAL PROTEIN L30; RPL30 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000287038 ORTHOMCL1578 jaccard_921
180468: OMIM gene: RIBOSOMAL PROTEIN L35A; RPL35A Gene map locus 3q29-qter (link from Ensembl BioMart) ENSP00000330165 ORTHOMCL1323 jaccard_1069
180469: OMIM gene: RIBOSOMAL PROTEIN L36A-LIKE; RPL36AL Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000346012 ORTHOMCL3180 jaccard_1233
180470: OMIM gene: RIBOPHORIN I; RPN1 Gene map locus 3q (link from Ensembl BioMart) ENSP00000296255 ORTHOMCL4999 jaccard_4392
180471: OMIM gene: RIBOSOMAL PROTEIN S11; RPS11 Gene map locus 19q (link from Ensembl BioMart) ENSP00000270625 ORTHOMCL1896 jaccard_1551
180472: OMIM gene: RIBOSOMAL PROTEIN S17; RPS17 RIBOSOMAL PROTEIN S17a-LIKE 1, INCLUDED; RPS17L1, INCLUDED Gene map locus 15q (link from Ensembl BioMart) ENSP00000346046 ORTHOMCL1013 jaccard_1001
ENSP00000346045 ORTHOMCL1013 jaccard_1001
180473: OMIM gene: RIBOSOMAL PROTEIN S18; RPS18 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000211372 ORTHOMCL1660 jaccard_939
180474: OMIM gene: RIBOSOMAL PROTEIN L22; RPL22 Gene map locus 3q26 (link from Ensembl BioMart) ENSP00000346088 ORTHOMCL1548 jaccard_1278
180475: OMIM gene: RIBOSOMAL PROTEIN L12; RPL12 (link from Ensembl BioMart) ENSP00000355071 ORTHOMCL787 jaccard_844
ENSP00000354739 ORTHOMCL787 jaccard_844
180476: OMIM gene: RIBOSOMAL PROTEIN S13; RPS13 Gene map locus 11p (link from Ensembl BioMart) ENSP00000228140 ORTHOMCL2824 jaccard_2265
180477: OMIM gene: RIBOSOMAL PROTEIN S21; RPS21 Gene map locus 20q13.3 (link from Ensembl BioMart) ENSP00000324438 ORTHOMCL1646 jaccard_1663
ENSP00000345957 ORTHOMCL1646 jaccard_1663
180478: OMIM gene: RIBOSOMAL PROTEIN S3a; RPS3A Gene map locus 4q31.2-q31.3 (link from Ensembl BioMart) ENSP00000346050 ORTHOMCL1266 jaccard_989
180479: OMIM gene: RIBOSOMAL PROTEIN L4; RPL4 Gene map locus 15q (link from Ensembl BioMart) ENSP00000311430 ORTHOMCL1938 jaccard_1606
180480: OMIM gene: RIBULOSE 5-PHOSPHATE 3-EPIMERASE; RPE Gene map locus 2q32-q33.3 (link from Ensembl BioMart) ENSP00000346501 jaccard_1649
ENSP00000352401 ORTHOMCL2605 jaccard_1649
180490: OMIM gene: RIBOPHORIN II; RPN2 Gene map locus 20q12-q13.1 (link from Ensembl BioMart) ENSP00000237530
ENSP00000237531 ORTHOMCL5097 jaccard_5036
180500: OMIM phenotype: RIEGER SYNDROME, TYPE 1; RIEG1 Gene map locus 4q25-q26 (link from NCBI) ENSP00000304169 ORTHOMCL6209 jaccard_329
ENSP00000347192 ORTHOMCL12530 jaccard_329
ENSP00000347004 ORTHOMCL14797 jaccard_329
180510: OMIM gene: RIBOSOMAL PHOSPHOPROTEIN, LARGE, P0; RPLP0 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000339027 ORTHOMCL3270 jaccard_692
180520: OMIM gene: RIBOSOMAL PHOSPHOPROTEIN, LARGE, P1; RPLP1 Gene map locus Chr.15 (link from Ensembl BioMart) ENSP00000350437 jaccard_354
ENSP00000346037 ORTHOMCL1033 jaccard_354
180530: OMIM gene: RIBOSOMAL PHOSPHOPROTEIN, LARGE, P2; RPLP2 (link from Ensembl BioMart) ENSP00000322419 ORTHOMCL1077 jaccard_354
180535: OMIM gene: RIBOSOMAL PROTEIN S15; RPS15 Gene map locus 19p (link from Ensembl BioMart) ENSP00000233609 ORTHOMCL1072 jaccard_888
180540: OMIM gene: RIBONUCLEASE 1, SERUM (link from Ensembl BioMart) ENSP00000344193 ORTHOMCL14208 jaccard_788
180550: OMIM phenotype: RING DERMOID OF CORNEA; RDC Gene map locus 4q25-q26 (link from NCBI) ENSP00000304169 ORTHOMCL6209 jaccard_329
ENSP00000347192 ORTHOMCL12530 jaccard_329
ENSP00000347004 ORTHOMCL14797 jaccard_329
180610: OMIM gene: RLF PROTEIN INVOLVED IN ACTIVATION OF LMYC Gene map locus 1p32 (link from Ensembl BioMart) ENSP00000235647 ORTHOMCL14419
180630: OMIM gene: DEAD/H BOX 5; DDX5 Gene map locus 17q23-q25 (link from Ensembl BioMart) ENSP00000225792 ORTHOMCL672 jaccard_31
180660: OMIM gene: POLYMERASE II, RNA, SUBUNIT A; POLR2A ALPHA-AMANITIN RESISTANCE, INCLUDED Gene map locus 17p13.1 (link from Ensembl BioMart) ENSP00000314949 ORTHOMCL4183 jaccard_1204
180661: OMIM gene: POLYMERASE II, RNA, SUBUNIT B; POLR2B Gene map locus 4q12 (link from Ensembl BioMart) ENSP00000312735 ORTHOMCL4764 jaccard_1084
180662: OMIM gene: POLYMERASE II, RNA, SUBUNIT I; POLR2I Gene map locus 19q12 (link from Ensembl BioMart) ENSP00000221859 ORTHOMCL3283 jaccard_826
180663: OMIM gene: POLYMERASE II, RNA, SUBUNIT C; POLR2C Gene map locus 16q13-q21 (link from Ensembl BioMart) ENSP00000219252 ORTHOMCL3403 jaccard_970
180664: OMIM gene: POLYMERASE II, RNA, SUBUNIT E; POLR2E Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000215587 ORTHOMCL5074 jaccard_2234
180721: OMIM gene: ROD OUTER SEGMENT PROTEIN 1; ROM1 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000278833 ORTHOMCL18559 jaccard_2619
180740: OMIM gene: SMALL NUCLEAR RIBONUCLEOPROTEIN, 70-KD; SNRP70 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221448 ORTHOMCL2212 jaccard_5677
180750: OMIM phenotype: ROBINOW-SORAUF SYNDROME (link from Ensembl BioMart) ENSP00000242261 ORTHOMCL3941 jaccard_13134
180800: OMIM phenotype: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA Gene map locus 17p11.2, 1q22 (link from NCBI) ENSP00000289928 ORTHOMCL8217 jaccard_901
ENSP00000308937 ORTHOMCL12915 jaccard_742
ENSP00000353634 ORTHOMCL8217 jaccard_901
180849: OMIM phenotype: RUBINSTEIN-TAYBI SYNDROME; RSTS Gene map locus 22q13, 16p13.3 (link from NCBI) ENSP00000263253 ORTHOMCL960 jaccard_5643
ENSP00000262367 ORTHOMCL960 jaccard_5643
180901: OMIM gene: RYANODINE RECEPTOR 1; RYR1 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000352608 ORTHOMCL719 jaccard_276
180902: OMIM gene: RYANODINE RECEPTOR 2; RYR2 Gene map locus 1q42.1-q43 (link from Ensembl BioMart) ENSP00000348047 ORTHOMCL719 jaccard_276
180903: OMIM gene: RYANODINE RECEPTOR 3; RYR3 Gene map locus 15q14-q15 (link from Ensembl BioMart) ENSP00000354852 ORTHOMCL719 jaccard_276
180920: OMIM phenotype: APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG PAROTID APLASIA OR HYPOPLASIA, INCLUDED Gene map locus 5p13-p12 (link from NCBI) ENSP00000264664 ORTHOMCL16159 jaccard_176
180960: OMIM gene: S-ADENOSYLHOMOCYSTEINE HYDROLASE; AHCY HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, INCLUDED Gene map locus 20cen-q13.1 (link from Ensembl BioMart) ENSP00000217426 ORTHOMCL671 jaccard_988
180980: OMIM gene: S-ADENOSYLMETHIONINE DECARBOXYLASE; AMD1 Gene map locus 6q21-q22 (link from Ensembl BioMart) ENSP00000243227 ORTHOMCL1745 jaccard_1726
180989: OMIM gene: PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 1; PRB1 SALIVARY PROTEIN Pe, INCLUDED Gene map locus 12p13.2 (link from Ensembl BioMart) ENSP00000240686 ORTHOMCL2526 jaccard_0
ENSP00000240636 ORTHOMCL2526 jaccard_0
180990: OMIM gene: PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 4; PRB4 SALIVARY PROTEIN Po, INCLUDED Gene map locus 12p13.2 (link from Ensembl BioMart) ENSP00000279575 ORTHOMCL2526 jaccard_0
181000: OMIM phenotype: SARCOIDOSIS Gene map locus 16q12, 6p21.3, 6p21.3 (link from NCBI) ENSP00000353099 ORTHOMCL841 jaccard_64
ENSP00000300589 ORTHOMCL11179 jaccard_190
181030: OMIM phenotype: SALIVARY GLAND ADENOMA, PLEOMORPHIC Gene map locus 8q12 (link from NCBI) ENSP00000325546 ORTHOMCL19538 jaccard_4416
181031: OMIM gene: S-ANTIGEN; SAG Gene map locus 2q37.1 (link from Ensembl BioMart) ENSP00000252857 ORTHOMCL12874 jaccard_1066
181035: OMIM gene: TETRASPANIN 31; TSPAN31 Gene map locus 12q13-q14 (link from Ensembl BioMart) ENSP00000257910 ORTHOMCL9758 jaccard_2895
181350: OMIM phenotype: EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2 Gene map locus 1q21.2 (link from NCBI) ENSP00000292304 ORTHOMCL1082 jaccard_0
ENSP00000355292 ORTHOMCL1082 jaccard_0
ENSP00000310687 ORTHOMCL1082 jaccard_0