254770-268100 --- 300004-300138
| OMIM ID: disease or gene description | Ensembl Peptide ID | OrthoMCL Family | Jaccard Coefficient Cluster |
|---|---|---|---|
| 268150: OMIM phenotype: RH-NULL, REGULATOR TYPE; RHN RH DEFICIENCY SYNDROME, INCLUDED Gene map locus 6p21.1-p11 (link from NCBI) | ENSP00000274818 | ORTHOMCL6979 | jaccard_687 |
| 268210: OMIM phenotype: RHABDOMYOSARCOMA 1; RMS1 Gene map locus 11p15.5 (link from NCBI) | ENSP00000307859 | ORTHOMCL7854 | jaccard_289 |
| ENSP00000311139 | ORTHOMCL7854 | jaccard_289 | |
| 268220: OMIM phenotype: RHABDOMYOSARCOMA 2; RMS2 Gene map locus 13q14.1, 1p36.2-p36.12, 2q35 (link from NCBI) | ENSP00000280496 | ORTHOMCL1173 | jaccard_1145 |
| ENSP00000342092 | ORTHOMCL7425 | jaccard_273 | |
| ENSP00000343052 | ORTHOMCL12727 | jaccard_273 | |
| ENSP00000338767 | ORTHOMCL12727 | jaccard_273 | |
| ENSP00000234492 | ORTHOMCL13294 | jaccard_273 | |
| ENSP00000258387 | jaccard_4168 | ||
| 268300: OMIM phenotype: ROBERTS SYNDROME; RBS Gene map locus 8p21.1 (link from NCBI) | ENSP00000306999 | ORTHOMCL8193 | jaccard_7152 |
| 268310: OMIM phenotype: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE Gene map locus 9q22 (link from NCBI) | ENSP00000303320 | ORTHOMCL6626 | jaccard_2 |
| 268400: OMIM phenotype: ROTHMUND-THOMSON SYNDROME; RTS Gene map locus 8q24.3 (link from NCBI) | ENSP00000301323 | ORTHOMCL7681 | jaccard_7355 |
| 268700: OMIM phenotype: SACCHAROPINURIA Gene map locus 7q31.3 (link from NCBI) | ENSP00000351834 | ORTHOMCL3792 | jaccard_4505 |
| 268800: OMIM phenotype: SANDHOFF DISEASE SANDHOFF DISEASE, ADULT TYPE, INCLUDED Gene map locus 5q13 (link from NCBI) | ENSP00000261416 | ORTHOMCL1012 | jaccard_1319 |
| 268900: OMIM phenotype: SARCOSINEMIA Gene map locus 9q33-q34 (link from NCBI) | ENSP00000302152 | ORTHOMCL8272 | jaccard_1662 |
| 269000: OMIM phenotype: SC PHOCOMELIA SYNDROME Gene map locus 8p21.1 (link from NCBI) | ENSP00000306999 | ORTHOMCL8193 | jaccard_7152 |
| 269160: OMIM phenotype: SCHIZENCEPHALY Gene map locus 10q26.1 (link from NCBI) | ENSP00000302942 | ORTHOMCL4365 | jaccard_6680 |
| 269500: OMIM phenotype: SCLEROSTEOSIS; SOST Gene map locus 17q12-q21 (link from NCBI) | ENSP00000301691 | ORTHOMCL15420 | jaccard_4715 |
| 269600: OMIM phenotype: SEA-BLUE HISTIOCYTE DISEASE Gene map locus 19q13.2 (link from NCBI) | ENSP00000252486 | ORTHOMCL12423 | jaccard_1828 |
| 269700: OMIM phenotype: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Gene map locus 11q13 (link from NCBI) | ENSP00000301781 | ORTHOMCL5459 | jaccard_3004 |
| ENSP00000354032 | ORTHOMCL5459 | jaccard_3004 | |
| 269920: OMIM phenotype: INFANTILE SIALIC ACID STORAGE DISORDER Gene map locus 6q14-q15 (link from NCBI) | ENSP00000311506 | ORTHOMCL378 | jaccard_87 |
| ENSP00000348019 | |||
| 269921: OMIM phenotype: SIALURIA Gene map locus 9p12-p11 (link from NCBI) | ENSP00000340770 | ORTHOMCL11636 | jaccard_7539 |
| 270100: OMIM phenotype: SITUS INVERSUS VISCERUM Gene map locus 7p21 (link from NCBI) | ENSP00000330671 | ORTHOMCL40 | jaccard_142 |
| 270200: OMIM phenotype: SJOGREN-LARSSON SYNDROME; SLS Gene map locus 17p11.2 (link from NCBI) | ENSP00000345774 | ORTHOMCL352 | jaccard_88 |
| ENSP00000176643 | ORTHOMCL352 | jaccard_88 | |
| 270230: OMIM phenotype: SKELETAL DYSPLASIA, SAN DIEGO TYPE (link from Ensembl BioMart) | ENSP00000260795 | ORTHOMCL6629 | jaccard_2 |
| 270300: OMIM phenotype: PEELING SKIN SYNDROME (link from NCBI) | ENSP00000220419 | ORTHOMCL16813 | jaccard_399 |
| ENSP00000220420 | ORTHOMCL16813 | jaccard_399 | |
| 270400: OMIM phenotype: SMITH-LEMLI-OPITZ SYNDROME; SLOS Gene map locus 11q12-q13 (link from NCBI) | ENSP00000347717 | ORTHOMCL7194 | jaccard_1080 |
| 270550: OMIM phenotype: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS Gene map locus 13q12 (link from NCBI) | ENSP00000281578 | ORTHOMCL7104 | jaccard_4676 |
| 270685: OMIM phenotype: SPASTIC PARAPLEGIA 17; SPG17 Gene map locus 11q13, 11q12-q14 (link from NCBI) | ENSP00000354032 | ORTHOMCL5459 | jaccard_3004 |
| ENSP00000301781 | ORTHOMCL5459 | jaccard_3004 | |
| 270960: OMIM phenotype: AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS Gene map locus 12q23 (link from NCBI) | ENSP00000266743 | ORTHOMCL11884 | jaccard_274 |
| 271150: OMIM phenotype: SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4 Gene map locus 5q12.2-q13.3 (link from NCBI) | ENSP00000305857 | ORTHOMCL24375 | jaccard_3382 |
| ENSP00000351847 | ORTHOMCL24375 | jaccard_3382 | |
| 271700: OMIM phenotype: SPONDYLOPERIPHERAL DYSPLASIA (link from Ensembl BioMart) | ENSP00000338213 | ORTHOMCL106 | jaccard_0 |
| 271900: OMIM phenotype: CANAVAN DISEASE Gene map locus 17pter-p13 (link from NCBI) | ENSP00000263080 | ORTHOMCL15766 | jaccard_2724 |
| 271980: OMIM phenotype: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Gene map locus 6p22 (link from Ensembl BioMart) | ENSP00000350191 | ORTHOMCL2670 | jaccard_88 |
| ENSP00000314649 | ORTHOMCL2670 | jaccard_88 | |
| 272120: OMIM phenotype: SUDDEN INFANT DEATH SYNDROME (link from Ensembl BioMart) | ENSP00000328968 | ORTHOMCL251 | jaccard_70 |
| 272200: OMIM phenotype: MULTIPLE SULFATASE DEFICIENCY; MSD Gene map locus 3p26 (link from NCBI) | ENSP00000348406 | ORTHOMCL4520 | jaccard_197 |
| ENSP00000342327 | ORTHOMCL2785 | jaccard_197 | |
| ENSP00000272902 | ORTHOMCL16612 | jaccard_4361 | |
| ENSP00000216124 | ORTHOMCL4520 | jaccard_197 | |
| ENSP00000264914 | ORTHOMCL2785 | jaccard_197 | |
| 272300: OMIM phenotype: SULFOCYSTEINURIA Gene map locus Chr.12 (link from NCBI) | ENSP00000266971 | ORTHOMCL5794 | jaccard_3461 |
| ENSP00000348440 | ORTHOMCL5794 | jaccard_3461 | |
| 272430: OMIM phenotype: COLD-INDUCED SWEATING SYNDROME; CISS Gene map locus 19p12 (link from NCBI) | ENSP00000007403 | ORTHOMCL12630 | jaccard_380 |
| 272460: OMIM phenotype: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME Gene map locus 3p14.3 (link from NCBI) | ENSP00000295956 | ORTHOMCL394 | jaccard_541 |
| 272750: OMIM gene: TAY-SACHS DISEASE, AB VARIANT GM2-ACTIVATOR, INCLUDED; GM2A, INCLUDED Gene map locus 5q31.3-q33.1 (link from Ensembl BioMart) | ENSP00000349687 | ORTHOMCL14144 | jaccard_9377 |
| 272800: OMIM phenotype: TAY-SACHS DISEASE; TSD TAY-SACHS DISEASE, JUVENILE, INCLUDED Gene map locus 15q23-q24 (link from NCBI) | ENSP00000268097 | ORTHOMCL1012 | jaccard_1319 |
| 273300: OMIM phenotype: TESTICULAR TUMORS TESTICULAR GERM CELL TUMOR, INCLUDED; TGCT, INCLUDED Gene map locus 12q22, 4q12 (link from NCBI) | ENSP00000288135 | ORTHOMCL13848 | jaccard_2 |
| 273395: OMIM phenotype: TETRA-AMELIA, AUTOSOMAL RECESSIVE Gene map locus 17q21 (link from NCBI) | ENSP00000225512 | ORTHOMCL16308 | jaccard_175 |
| 273750: OMIM phenotype: THREE M SYNDROME Gene map locus 6p21.1 (link from NCBI) | ENSP00000265348 | ORTHOMCL6338 | jaccard_4105 |
| 273800: OMIM phenotype: THROMBASTHENIA OF GLANZMANN AND NAEGELI Gene map locus 17q21.32 (link from NCBI) | ENSP00000262017 | ORTHOMCL3021 | jaccard_347 |
| ENSP00000262407 | ORTHOMCL12923 | jaccard_160 | |
| 274150: OMIM phenotype: THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP Gene map locus 9q34 (link from NCBI) | ENSP00000321395 | ORTHOMCL12120 | jaccard_41 |
| ENSP00000348997 | ORTHOMCL12120 | jaccard_41 | |
| ENSP00000322871 | |||
| ENSP00000347927 | ORTHOMCL12120 | jaccard_41 | |
| 274180: OMIM gene: THROMBOXANE A SYNTHASE 1; TBXAS1 THROMBOXANE SYNTHETASE DEFICIENCY, INCLUDED Gene map locus 7q34 (link from Ensembl BioMart) | ENSP00000263552 | ORTHOMCL37 | jaccard_9 |
| ENSP00000338087 | ORTHOMCL37 | jaccard_9 | |
| 274270: OMIM gene: DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD THYMINE-URACILURIA, HEREDITARY, INCLUDED Gene map locus 1p22 (link from Ensembl BioMart) | ENSP00000271131 | ORTHOMCL5439 | jaccard_4779 |
| 274300: OMIM phenotype: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH Gene map locus 3p24.3 (link from NCBI) | ENSP00000348827 | ORTHOMCL16317 | jaccard_18 |
| ENSP00000280696 | ORTHOMCL16945 | jaccard_18 | |
| 274400: OMIM phenotype: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 Gene map locus 19p13.2-p12 (link from NCBI) | ENSP00000222248 | ORTHOMCL10583 | jaccard_210 |
| 274500: OMIM phenotype: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A TOTAL IODIDE ORGANIFICATION DEFECT, INCLUDED; TIOD, INCLUDED Gene map locus 2p25 (link from NCBI) | ENSP00000329869 | ORTHOMCL5227 | jaccard_524 |
| ENSP00000337263 | ORTHOMCL5227 | jaccard_524 | |
| ENSP00000318820 | ORTHOMCL5227 | jaccard_524 | |
| ENSP00000263886 | ORTHOMCL5227 | jaccard_524 | |
| ENSP00000332044 | ORTHOMCL5227 | jaccard_524 | |
| 274600: OMIM phenotype: PENDRED SYNDROME; PDS THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B, INCLUDED Gene map locus 7q31 (link from NCBI) | ENSP00000265715 | ORTHOMCL114 | jaccard_193 |
| 275000: OMIM phenotype: GRAVES DISEASE GRD1, INCLUDED Gene map locus Xp11, 20q13.11, 4q12, 2q33 (link from NCBI) | ENSP00000303939 | ORTHOMCL20623 | jaccard_3730 |
| ENSP00000298171 | ORTHOMCL9469 | jaccard_415 | |
| ENSP00000273951 | ORTHOMCL20515 | jaccard_2925 | |
| 275100: OMIM phenotype: THYROTROPIN DEFICIENCY, ISOLATED THYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDED (link from Ensembl BioMart) | ENSP00000256592 | ORTHOMCL14479 | jaccard_1775 |
| 275120: OMIM gene: THYROTROPIN-RELEASING HORMONE DEFICIENCY THYROTROPIN-RELEASING HORMONE, INCLUDED; TRH, INCLUDED Gene map locus 3q13.3-q21 (link from Ensembl BioMart) | ENSP00000303452 | ORTHOMCL16917 | jaccard_8178 |
| 275200: OMIM phenotype: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Gene map locus 14q31 (link from Ensembl BioMart) | ENSP00000298171 | ORTHOMCL9469 | jaccard_415 |
| 275210: OMIM phenotype: TIGHT SKIN CONTRACTURE SYNDROME, LETHAL Gene map locus 1p34 (link from NCBI) | ENSP00000196805 | ORTHOMCL6339 | jaccard_2271 |
| 275350: OMIM gene: TRANSCOBALAMIN II DEFICIENCY TRANSCOBALAMIN II, INCLUDED; TCN2, INCLUDED Gene map locus 22q11.2-qter (link from Ensembl BioMart) | ENSP00000215838 | ORTHOMCL15057 | jaccard_4687 |
| 275355: OMIM phenotype: SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC Gene map locus 18q, 13q34, 8p22-p21 (link from NCBI) | ENSP00000276431 | ORTHOMCL5349 | jaccard_691 |
| ENSP00000304973 | ORTHOMCL946 | jaccard_580 | |
| ENSP00000345202 | ORTHOMCL20071 | jaccard_551 | |
| ENSP00000328436 | jaccard_551 | ||
| ENSP00000269305 | ORTHOMCL10818 | jaccard_1112 | |
| ENSP00000283538 | ORTHOMCL11915 | jaccard_551 | |
| ENSP00000320566 | ORTHOMCL4986 | jaccard_551 | |
| ENSP00000283537 | ORTHOMCL20071 | jaccard_551 | |
| ENSP00000317859 | ORTHOMCL5349 | jaccard_691 | |
| 275360: OMIM gene: TREHALASE; TREH TREHALASE DEFICIENCY, INCLUDED (link from Ensembl BioMart) | ENSP00000264029 | ORTHOMCL911 | jaccard_1455 |
| 275630: OMIM phenotype: TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION Gene map locus 3p21 (link from NCBI) | ENSP00000013894 | ORTHOMCL19156 | jaccard_1183 |
| 275900: OMIM phenotype: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Gene map locus 13q12.3 (link from NCBI) | ENSP00000353307 | ORTHOMCL3756 | jaccard_2542 |
| ENSP00000347314 | ORTHOMCL3756 | jaccard_2542 | |
| 276000: OMIM gene: PROTEASE, SERINE, 1; PRSS1 TRYPSINOGEN DEFICIENCY, INCLUDED Gene map locus 7q35 (link from Ensembl BioMart) | ENSP00000290968 | ORTHOMCL523 | jaccard_10 |
| 276300: OMIM phenotype: TURCOT SYNDROME Gene map locus 7p22, 5q21-q22, 3p21.3 (link from NCBI) | ENSP00000231790 | ORTHOMCL4618 | jaccard_1271 |
| ENSP00000265849 | ORTHOMCL3917 | jaccard_1271 | |
| ENSP00000257430 | ORTHOMCL1440 | jaccard_5442 | |
| 276400: OMIM phenotype: TWINNING, DIZYGOTIC Gene map locus 2p21-p16 (link from NCBI) | ENSP00000333908 | jaccard_415 | |
| ENSP00000306780 | ORTHOMCL4624 | jaccard_415 | |
| 276600: OMIM gene: TYROSINE TRANSAMINASE DEFICIENCY TYROSINE AMINOTRANSFERASE, INCLUDED; TAT, INCLUDED Gene map locus 16q22.1-q22.3 (link from Ensembl BioMart) | ENSP00000348234 | ORTHOMCL1073 | jaccard_182 |
| 276700: OMIM gene: TYROSINEMIA, TYPE I FUMARYLACETOACETATE HYDROLASE, INCLUDED; FAH, INCLUDED Gene map locus 15q23-q25 (link from Ensembl BioMart) | ENSP00000261755 | ORTHOMCL6040 | jaccard_5662 |
| 276710: OMIM phenotype: TYROSINEMIA, TYPE III Gene map locus 12q24-qter (link from NCBI) | ENSP00000289004 | ORTHOMCL5399 | jaccard_2117 |
| 276880: OMIM phenotype: UROCANASE DEFICIENCY (link from Ensembl BioMart) | ENSP00000290868 | ORTHOMCL9495 | jaccard_5386 |
| 276900: OMIM phenotype: USHER SYNDROME, TYPE I USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED Gene map locus 11q13.5 (link from NCBI) | ENSP00000224721 | ORTHOMCL783 | jaccard_14 |
| ENSP00000320076 | ORTHOMCL4505 | jaccard_9235 | |
| ENSP00000317018 | ORTHOMCL21764 | jaccard_33 | |
| ENSP00000354950 | ORTHOMCL6916 | jaccard_14 | |
| ENSP00000351105 | ORTHOMCL636 | jaccard_3 | |
| 276901: OMIM phenotype: USHER SYNDROME, TYPE IIA; USH2A Gene map locus 1q41 (link from NCBI) | ENSP00000264099 | ORTHOMCL8256 | jaccard_5 |
| ENSP00000305941 | ORTHOMCL8256 | jaccard_2 | |
| 276902: OMIM phenotype: USHER SYNDROME, TYPE III; USH3 Gene map locus 3q21-q25 (link from NCBI) | ENSP00000329158 | ||
| ENSP00000322280 | ORTHOMCL10877 | jaccard_2605 | |
| ENSP00000295911 | |||
| 276903: OMIM gene: MYOSIN VIIA; MYO7A Gene map locus 11q13.5 (link from Ensembl BioMart) | ENSP00000351105 | ORTHOMCL636 | jaccard_3 |
| 276904: OMIM phenotype: USHER SYNDROME, TYPE IC; USH1C Gene map locus 11p15.1 (link from NCBI) | ENSP00000317018 | ORTHOMCL21764 | jaccard_33 |
| ENSP00000005226 | ORTHOMCL9834 | jaccard_33 | |
| 276950: OMIM phenotype: VACTERL ASSOCIATION WITH HYDROCEPHALUS VATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED Gene map locus 10q23.31 (link from NCBI) | ENSP00000304973 | ORTHOMCL946 | jaccard_580 |
| 277000: OMIM phenotype: ROKITANSKY-KUSTER-HAUSER SYNDROME Gene map locus 1p35 (link from NCBI) | ENSP00000290167 | ORTHOMCL8325 | jaccard_175 |
| 277180: OMIM phenotype: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD Gene map locus 7q31.2 (link from NCBI) | ENSP00000003084 | ORTHOMCL10664 | jaccard_44 |
| 277300: OMIM phenotype: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1 Gene map locus 19q13 (link from NCBI) | ENSP00000348810 | ORTHOMCL13403 | jaccard_5 |
| ENSP00000205143 | ORTHOMCL13403 | jaccard_5 | |
| 277400: OMIM phenotype: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE Gene map locus 1p34.1 (link from NCBI) | ENSP00000255103 | ORTHOMCL13096 | jaccard_6384 |
| 277440: OMIM phenotype: VITAMIN D-DEPENDENT RICKETS, TYPE II VITAMIN D-DEPENDENT RICKETS, TYPE II, WITHOUT ALOPECIA, INCLUDED Gene map locus 12q12-q14 (link from NCBI) | ENSP00000229022 | ORTHOMCL14997 | jaccard_18 |
| 277450: OMIM phenotype: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 CHONDRODYSPLASIA PUNCTATA WITH COAGULATION FACTOR DEFICIENCY, INCLUDED Gene map locus 2p12 (link from NCBI) | ENSP00000233838 | ORTHOMCL16303 | jaccard_8035 |
| 277460: OMIM phenotype: VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED Gene map locus 8q13.1-q13.3 (link from NCBI) | ENSP00000260116 | ORTHOMCL14866 | jaccard_121 |
| 277480: OMIM phenotype: VON WILLEBRAND DISEASE, RECESSIVE FORM (link from Ensembl BioMart) | ENSP00000261405 | ORTHOMCL16739 | jaccard_5 |
| 277580: OMIM phenotype: WAARDENBURG-SHAH SYNDROME Gene map locus 22q13, 20q13.2-q13.3, 13q22 (link from NCBI) | ENSP00000337128 | ORTHOMCL11162 | jaccard_2981 |
| ENSP00000345301 | ORTHOMCL11162 | jaccard_2981 | |
| ENSP00000343922 | ORTHOMCL7571 | jaccard_6 | |
| ENSP00000335311 | ORTHOMCL7571 | jaccard_6 | |
| ENSP00000311854 | ORTHOMCL11162 | jaccard_2981 | |
| ENSP00000354130 | ORTHOMCL11818 | jaccard_572 | |
| 277590: OMIM phenotype: WEAVER SYNDROME WEAVER-LIKE SYNDROME, INCLUDED Gene map locus 5q35 (link from NCBI) | ENSP00000343209 | ORTHOMCL614 | jaccard_168 |
| ENSP00000348031 | ORTHOMCL614 | jaccard_168 | |
| 277600: OMIM phenotype: WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE Gene map locus 19p13.3-p13.2 (link from NCBI) | ENSP00000270328 | ORTHOMCL10237 | jaccard_41 |
| 277610: OMIM phenotype: WEISSENBACHER-ZWEYMULLER SYNDROME; WZS Gene map locus 6p21.3 (link from NCBI) | ENSP00000355123 | ORTHOMCL106 | jaccard_0 |
| ENSP00000339915 | ORTHOMCL106 | jaccard_0 | |
| 277700: OMIM phenotype: WERNER SYNDROME; WRN Gene map locus 8p12-p11.2 (link from NCBI) | ENSP00000298139 | ORTHOMCL7352 | jaccard_2043 |
| ENSP00000310687 | ORTHOMCL1082 | jaccard_0 | |
| 277730: OMIM phenotype: WERNICKE-KORSAKOFF SYNDROME Gene map locus 3p14.3 (link from NCBI) | ENSP00000296289 | ORTHOMCL1245 | jaccard_1137 |
| 277900: OMIM phenotype: WILSON DISEASE Gene map locus 13q14.3-q21.1 (link from NCBI) | ENSP00000242839 | ORTHOMCL817 | jaccard_30 |
| ENSP00000342559 | ORTHOMCL817 | jaccard_30 | |
| 277950: OMIM phenotype: WINCHESTER SYNDROME Gene map locus 16q13 (link from NCBI) | ENSP00000219070 | ORTHOMCL16521 | jaccard_144 |
| 278000: OMIM gene: WOLMAN DISEASE LIPASE A, LYSOSOMAL ACID, INCLUDED; LIPA, INCLUDED Gene map locus 10q24-q25 (link from Ensembl BioMart) | ENSP00000322868 | ORTHOMCL173 | jaccard_406 |
| ENSP00000337354 | ORTHOMCL173 | jaccard_406 | |
| 278300: OMIM phenotype: XANTHINURIA, TYPE I Gene map locus 2p23-p22 (link from NCBI) | ENSP00000289041 | ORTHOMCL1677 | jaccard_947 |
| 278400: OMIM phenotype: RUFOUS OCULOCUTANEOUS ALBINISM; ROCA Gene map locus 9p23 (link from NCBI) | ENSP00000224014 | ORTHOMCL13543 | jaccard_3211 |
| 278700: OMIM gene: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA XPA GENE Gene map locus 9q22.3 (link from Ensembl BioMart) | ENSP00000259463 | ORTHOMCL7426 | jaccard_5171 |
| 278720: OMIM gene: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC XPC GENE Gene map locus 3p25 (link from Ensembl BioMart) | ENSP00000285021 | ORTHOMCL2774 | jaccard_3663 |
| 278730: OMIM phenotype: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED Gene map locus 19q13.2-q13.3 (link from NCBI) | ENSP00000221481 | ORTHOMCL3526 | jaccard_600 |
| 278740: OMIM phenotype: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E Gene map locus 11p12-p11 (link from NCBI) | ENSP00000256996 | ORTHOMCL6259 | jaccard_3473 |
| 278750: OMIM phenotype: XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES Gene map locus 6p21.1-p12 (link from NCBI) | ENSP00000306591 | ORTHOMCL6492 | jaccard_768 |
| 278760: OMIM phenotype: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Gene map locus 16p13.3-p13.13 (link from NCBI) | ENSP00000310520 | ORTHOMCL4274 | jaccard_3679 |
| 278800: OMIM phenotype: DE SANCTIS-CACCHIONE SYNDROME Gene map locus 10q11 (link from NCBI) | ENSP00000348089 | ORTHOMCL5416 | jaccard_48 |
| ENSP00000265899 | ORTHOMCL5416 | jaccard_48 | |
| 300000: OMIM phenotype: OPITZ SYNDROME Gene map locus Xp22 (link from NCBI) | ENSP00000312678 | ORTHOMCL7778 | jaccard_20 |
| 300002: OMIM gene: ARYLSULFATASE D; ARSD Gene map locus Xp22.3 (link from Ensembl BioMart) | ENSP00000350900 | ORTHOMCL3888 | jaccard_197 |
| ENSP00000217890 | ORTHOMCL3888 | ||
| 300003: OMIM gene: ARYLSULFATASE F; ARSF Gene map locus Xp22.3 (link from Ensembl BioMart) | ENSP00000351220 | ORTHOMCL3888 | jaccard_197 |
| ENSP00000352319 | ORTHOMCL3888 | jaccard_197 |