194531-209900 --- 227500-241530
| OMIM ID: disease or gene description | Ensembl Peptide ID | OrthoMCL Family | Jaccard Coefficient Cluster |
|---|---|---|---|
| 209901: OMIM gene: BBS1 GENE; BBS1 Gene map locus 11q13 (link from Ensembl BioMart) | ENSP00000317469 | ORTHOMCL7884 | jaccard_4501 |
| 209920: OMIM phenotype: BARE LYMPHOCYTE SYNDROME, TYPE II BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED Gene map locus 19p12, 16p13, 13q14, 1q21.1-q21.3 (link from NCBI) | ENSP00000255476 | ORTHOMCL16088 | jaccard_9279 |
| ENSP00000290524 | ORTHOMCL17417 | jaccard_8855 | |
| ENSP00000316328 | ORTHOMCL14906 | jaccard_190 | |
| ENSP00000262804 | jaccard_11 | ||
| ENSP00000305071 | ORTHOMCL7288 | jaccard_11 | |
| 209950: OMIM phenotype: ATYPICAL MYCOBACTERIOSIS, FAMILIAL BCG INFECTION, GENERALIZED FAMILIAL, INCLUDED Gene map locus 21q22.1-q22.2, 19p13.1, 6q23-q24, 5q31.1-q33.1, 2q32.2-q32.3 (link from NCBI) | ENSP00000314425 | ORTHOMCL10847 | jaccard_11269 |
| ENSP00000221270 | ORTHOMCL10847 | jaccard_11853 | |
| ENSP00000354394 | ORTHOMCL12916 | jaccard_685 | |
| ENSP00000231228 | ORTHOMCL15126 | ||
| ENSP00000029439 | ORTHOMCL17885 | jaccard_11278 | |
| 210200: OMIM phenotype: 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY Gene map locus 3q25-q27 (link from NCBI) | ENSP00000265594 | ORTHOMCL1537 | jaccard_565 |
| 210210: OMIM phenotype: 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY Gene map locus 5q12-q13 (link from NCBI) | ENSP00000343657 | ORTHOMCL5899 | jaccard_2606 |
| 210250: OMIM phenotype: SITOSTEROLEMIA Gene map locus 2p21, 2p21 (link from NCBI) | ENSP00000260645 | ORTHOMCL2628 | jaccard_105 |
| ENSP00000272286 | ORTHOMCL131 | jaccard_105 | |
| 210600: OMIM phenotype: SECKEL SYNDROME 1 Gene map locus 3q22-q24 (link from NCBI) | ENSP00000343741 | ORTHOMCL3134 | jaccard_497 |
| 210900: OMIM phenotype: BLOOM SYNDROME; BLM Gene map locus 15q26.1 (link from NCBI) | ENSP00000347232 | ORTHOMCL2917 | jaccard_2043 |
| 211100: OMIM gene: FUCOSYLTRANSFERASE 1; FUT1 BOMBAY PHENOTYPE, INCLUDED Gene map locus 19q13.3 (link from Ensembl BioMart) | ENSP00000312021 | ORTHOMCL19090 | jaccard_4608 |
| 211600: OMIM phenotype: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1 Gene map locus 18q21 (link from NCBI) | ENSP00000283684 | ORTHOMCL80 | jaccard_30 |
| 211900: OMIM phenotype: CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA Gene map locus 12p13.3, 2q24-q31 (link from NCBI) | ENSP00000233685 | ORTHOMCL22670 | jaccard_125 |
| ENSP00000237837 | ORTHOMCL9910 | jaccard_176 | |
| 211980: OMIM phenotype: LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED Gene map locus 17q21.1, 12p12.1, 11q22-q24, 11p15.5, 10p11.2, 7q34, 7p12.3-p12.1, 6q25.2-q27, 3p22-p21.3 (link from NCBI) | ENSP00000328107 | ORTHOMCL4891 | jaccard_3012 |
| ENSP00000343317 | ORTHOMCL1035 | jaccard_881 | |
| ENSP00000308597 | ORTHOMCL9601 | jaccard_6128 | |
| ENSP00000315914 | ORTHOMCL9601 | jaccard_6128 | |
| ENSP00000332954 | jaccard_3012 | ||
| ENSP00000288602 | ORTHOMCL5241 | jaccard_1273 | |
| ENSP00000269305 | ORTHOMCL10818 | jaccard_1112 | |
| ENSP00000311344 | ORTHOMCL1035 | jaccard_881 | |
| ENSP00000342376 | ORTHOMCL901 | jaccard_512 | |
| ENSP00000345973 | ORTHOMCL901 | jaccard_512 | |
| ENSP00000333280 | ORTHOMCL4891 | jaccard_3012 | |
| ENSP00000311139 | ORTHOMCL7854 | jaccard_289 | |
| ENSP00000263056 | ORTHOMCL15148 | jaccard_9451 | |
| ENSP00000275493 | ORTHOMCL901 | jaccard_512 | |
| ENSP00000308495 | ORTHOMCL735 | jaccard_8 | |
| ENSP00000256078 | ORTHOMCL19629 | jaccard_8 | |
| ENSP00000269571 | ORTHOMCL901 | jaccard_512 | |
| ENSP00000337480 | |||
| ENSP00000307859 | ORTHOMCL7854 | jaccard_289 | |
| 212065: OMIM phenotype: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia OLIVOPONTOCEREBELLAR ATROPHY, NEONATAL, INCLUDED Gene map locus 16p13.3-p13.2 (link from NCBI) | ENSP00000268261 | ORTHOMCL5110 | jaccard_1894 |
| 212066: OMIM phenotype: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa Gene map locus 14q21 (link from NCBI) | ENSP00000307423 | ORTHOMCL6640 | jaccard_4088 |
| 212070: OMIM phenotype: CARBOXYPEPTIDASE N DEFICIENCY Gene map locus 10q24.2 (link from NCBI) | ENSP00000266047 | ORTHOMCL1051 | jaccard_436 |
| 212138: OMIM gene: SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 20; SLC25A20 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, INCLUDED Gene map locus 3p21.31 (link from Ensembl BioMart) | ENSP00000326305 | ORTHOMCL2738 | jaccard_27 |
| 212140: OMIM phenotype: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP Gene map locus 5q31.1 (link from NCBI) | ENSP00000245407 | ORTHOMCL16226 | jaccard_26 |
| 212720: OMIM phenotype: MARTSOLF SYNDROME Gene map locus 1q41 (link from NCBI) | ENSP00000351832 | jaccard_11789 | |
| 213300: OMIM phenotype: JOUBERT SYNDROME 1; JBTS1 Gene map locus 9q34.3, 2q13 (link from NCBI) | ENSP00000313169 | ORTHOMCL8245 | jaccard_4965 |
| 213700: OMIM phenotype: CEREBROTENDINOUS XANTHOMATOSIS Gene map locus 2q33-qter (link from NCBI) | ENSP00000258415 | ORTHOMCL11375 | jaccard_9 |
| 214100: OMIM phenotype: ZELLWEGER SYNDROME; ZS Gene map locus Chr.1, 22q11.21, 1q22, 12p13.3, 1p36.2, 7q21-q22, 6q23-q24, 2p15 (link from NCBI) | ENSP00000266564 | ORTHOMCL2130 | jaccard_1294 |
| ENSP00000266563 | ORTHOMCL2130 | jaccard_1294 | |
| ENSP00000248633 | ORTHOMCL3950 | jaccard_9650 | |
| ENSP00000270774 | ORTHOMCL6801 | jaccard_4307 | |
| ENSP00000036971 | ORTHOMCL4591 | jaccard_3872 | |
| ENSP00000294784 | ORTHOMCL2942 | jaccard_3172 | |
| ENSP00000349016 | |||
| ENSP00000303511 | ORTHOMCL5380 | jaccard_60 | |
| ENSP00000225873 | ORTHOMCL4967 | jaccard_3634 | |
| ENSP00000288774 | ORTHOMCL7733 | jaccard_4689 | |
| ENSP00000295030 | ORTHOMCL6298 | jaccard_4221 | |
| ENSP00000331106 | ORTHOMCL7688 | jaccard_5264 | |
| ENSP00000349543 | ORTHOMCL2945 | jaccard_2715 | |
| 214150: OMIM phenotype: CEREBROOCULOFACIOSKELETAL SYNDROME Gene map locus 19q13.2-q13.3, 13q33, 10q11 (link from NCBI) | ENSP00000348089 | ORTHOMCL5416 | jaccard_48 |
| ENSP00000265899 | ORTHOMCL5416 | jaccard_48 | |
| ENSP00000221481 | ORTHOMCL3526 | jaccard_600 | |
| 214400: OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A Gene map locus 8q13-q21.1 (link from NCBI) | ENSP00000220822 | ORTHOMCL6502 | jaccard_2847 |
| 214450: OMIM phenotype: GRISCELLI SYNDROME, TYPE 1; GS1 Gene map locus 15q21 (link from NCBI) | ENSP00000351930 | ORTHOMCL90 | jaccard_3 |
| 214500: OMIM phenotype: CHEDIAK-HIGASHI SYNDROME; CHS Gene map locus 1q42.1-q42.2 (link from NCBI) | ENSP00000352285 | ORTHOMCL6706 | jaccard_5590 |
| ENSP00000272000 | ORTHOMCL6706 | jaccard_5590 | |
| 214700: OMIM phenotype: CHLORIDE DIARRHEA, FAMILIAL; CLD Gene map locus 7q22-q31.1 (link from Ensembl BioMart) | ENSP00000345873 | ORTHOMCL16178 | jaccard_193 |
| 214800: OMIM phenotype: CHARGE SYNDROME Gene map locus 8q12.1, 7q21.1 (link from NCBI) | ENSP00000303212 | ORTHOMCL12702 | jaccard_106 |
| ENSP00000307304 | ORTHOMCL445 | jaccard_48 | |
| 215045: OMIM phenotype: CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD (link from Ensembl BioMart) | ENSP00000321999 | ORTHOMCL15677 | jaccard_59 |
| 215100: OMIM phenotype: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Gene map locus 6q22-q24 (link from NCBI) | ENSP00000315680 | ORTHOMCL7529 | jaccard_17 |
| 215140: OMIM phenotype: HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA Gene map locus 1q42.1 (link from NCBI) | ENSP00000272163 | ORTHOMCL3277 | jaccard_1080 |
| ENSP00000339883 | ORTHOMCL3277 | jaccard_1080 | |
| 215150: OMIM phenotype: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED Gene map locus 6p21.3 (link from NCBI) | ENSP00000339915 | ORTHOMCL106 | jaccard_0 |
| ENSP00000355123 | ORTHOMCL106 | jaccard_0 | |
| 215300: OMIM phenotype: CHONDROSARCOMA Gene map locus 8q24.11-q24.13 (link from NCBI) | ENSP00000328662 | ORTHOMCL7596 | jaccard_1491 |
| 215600: OMIM phenotype: CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED Gene map locus 12q13, 12q13 (link from NCBI) | ENSP00000345649 | ORTHOMCL9461 | jaccard_0 |
| ENSP00000293308 | ORTHOMCL2248 | jaccard_0 | |
| 215700: OMIM phenotype: CITRULLINEMIA, CLASSIC Gene map locus 9q34 (link from NCBI) | ENSP00000253004 | ORTHOMCL6387 | jaccard_1746 |
| 216400: OMIM phenotype: COCKAYNE SYNDROME, TYPE A; CSA Gene map locus 5q12 (link from NCBI) | ENSP00000265038 | ORTHOMCL5893 | jaccard_4589 |
| 216550: OMIM phenotype: COHEN SYNDROME; COH1 Gene map locus 8q22-q23 (link from NCBI) | ENSP00000344778 | ORTHOMCL3030 | jaccard_11851 |
| ENSP00000349685 | ORTHOMCL3030 | jaccard_6839 | |
| ENSP00000351346 | ORTHOMCL3030 | jaccard_6839 | |
| ENSP00000347281 | ORTHOMCL3030 | jaccard_11851 | |
| 216900: OMIM phenotype: ACHROMATOPSIA 2; ACHM2 Gene map locus 2q11 (link from NCBI) | ENSP00000272602 | ORTHOMCL5181 | jaccard_111 |
| 217000: OMIM gene: COMPLEMENT COMPONENT 2 DEFICIENCY COMPLEMENT COMPONENT 2, INCLUDED; C2, INCLUDED Gene map locus 6p21.3 (link from Ensembl BioMart) | ENSP00000299367 | ORTHOMCL19144 | jaccard_2613 |
| 217050: OMIM gene: COMPLEMENT COMPONENT 6 DEFICIENCY COMPLEMENT COMPONENT 6, INCLUDED; C6, INCLUDED Gene map locus 5p13 (link from Ensembl BioMart) | ENSP00000263413 | ORTHOMCL8943 | jaccard_577 |
| ENSP00000338861 | ORTHOMCL8943 | jaccard_577 | |
| 217070: OMIM gene: COMPLEMENT COMPONENT 7 DEFICIENCY COMPLEMENT COMPONENT 7, INCLUDED; C7, INCLUDED Gene map locus 5p13 (link from Ensembl BioMart) | ENSP00000322061 | ORTHOMCL7078 | jaccard_577 |
| 217090: OMIM phenotype: CONJUNCTIVITIS, LIGNEOUS Gene map locus 6q26 (link from NCBI) | ENSP00000241669 | ORTHOMCL11336 | jaccard_10 |
| ENSP00000308938 | jaccard_10 | ||
| 217095: OMIM phenotype: CONOTRUNCAL HEART MALFORMATIONS; CTHM TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED Gene map locus 22q11.2, 2q21.1 (link from NCBI) | ENSP00000331791 | ORTHOMCL8768 | jaccard_166 |
| ENSP00000352483 | ORTHOMCL19998 | jaccard_166 | |
| ENSP00000259216 | ORTHOMCL16428 | jaccard_2867 | |
| ENSP00000331176 | ORTHOMCL19998 | jaccard_166 | |
| 217300: OMIM phenotype: CORNEA PLANA 2; CNA2 Gene map locus 12q22 (link from NCBI) | ENSP00000266719 | ORTHOMCL12768 | jaccard_7 |
| 217800: OMIM phenotype: MACULAR DYSTROPHY, CORNEAL, 1; MCDC1 MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED Gene map locus 16q22 (link from NCBI) | ENSP00000328983 | ORTHOMCL8756 | jaccard_855 |
| 218000: OMIM phenotype: CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY Gene map locus 15q13-q14 (link from NCBI) | ENSP00000290209 | ORTHOMCL333 | jaccard_287 |
| ENSP00000346112 | ORTHOMCL333 | jaccard_287 | |
| 218030: OMIM gene: CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, INCLUDED; HSD11B2, INCLUDED Gene map locus 16q22 (link from Ensembl BioMart) | ENSP00000316786 | ORTHOMCL14394 | jaccard_21 |
| 218040: OMIM phenotype: COSTELLO SYNDROME Gene map locus 11p15.5 (link from NCBI) | ENSP00000309845 | ORTHOMCL11712 | jaccard_8 |
| ENSP00000312305 | jaccard_8 | ||
| 218600: OMIM phenotype: BALLER-GEROLD SYNDROME; BGS Gene map locus 8q24.3 (link from NCBI) | ENSP00000301323 | ORTHOMCL7681 | jaccard_7355 |
| 218700: OMIM phenotype: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Gene map locus 2q12-q14 (link from NCBI) | ENSP00000263334 | ORTHOMCL18820 | jaccard_273 |
| ENSP00000314750 | ORTHOMCL15657 | jaccard_273 | |
| ENSP00000263333 | ORTHOMCL19545 | jaccard_273 | |
| ENSP00000263335 | ORTHOMCL15657 | jaccard_273 | |
| ENSP00000349527 | ORTHOMCL15657 | jaccard_273 | |
| 218800: OMIM phenotype: CRIGLER-NAJJAR SYNDROME Gene map locus 2q37 (link from NCBI) | ENSP00000304845 | ORTHOMCL5247 | jaccard_56 |
| 219000: OMIM phenotype: FRASER SYNDROME CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDED Gene map locus 13q13.3, 4q21 (link from NCBI) | ENSP00000350648 | jaccard_1633 | |
| ENSP00000264895 | ORTHOMCL892 | jaccard_842 | |
| ENSP00000326330 | jaccard_3286 | ||
| ENSP00000280481 | ORTHOMCL892 | jaccard_3286 | |
| 219050: OMIM phenotype: CRYPTORCHIDISM, UNILATERAL OR BILATERAL Gene map locus 19p13.2, 13q13.1 (link from NCBI) | ENSP00000321724 | ORTHOMCL8894 | |
| ENSP00000298386 | ORTHOMCL953 | jaccard_415 | |
| 219100: OMIM phenotype: CUTIS LAXA, AUTOSOMAL RECESSIVE Gene map locus 14q32.1, 5q23.3-q31.2 (link from NCBI) | ENSP00000345008 | ORTHOMCL10002 | jaccard_5 |
| ENSP00000231004 | ORTHOMCL14562 | jaccard_2263 | |
| 219500: OMIM phenotype: CYSTATHIONINURIA Gene map locus 1p31.1 (link from NCBI) | ENSP00000235407 | ORTHOMCL2246 | jaccard_1243 |
| ENSP00000311554 | ORTHOMCL2246 | jaccard_1243 | |
| 219700: OMIM phenotype: CYSTIC FIBROSIS; CF Gene map locus 19q13.1, 7q31.2 (link from NCBI) | ENSP00000003084 | ORTHOMCL10664 | jaccard_44 |
| ENSP00000221930 | ORTHOMCL6074 | jaccard_130 | |
| 219750: OMIM phenotype: CYSTINOSIS, ADULT NONNEPHROPATHIC Gene map locus 17p13 (link from NCBI) | ENSP00000046640 | ORTHOMCL3323 | jaccard_2916 |
| 219800: OMIM phenotype: CYSTINOSIS, NEPHROPATHIC; CTNS CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED Gene map locus 17p13 (link from NCBI) | ENSP00000046640 | ORTHOMCL3323 | jaccard_2916 |
| 219900: OMIM phenotype: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Gene map locus 17p13 (link from NCBI) | ENSP00000046640 | ORTHOMCL3323 | jaccard_2916 |
| 220100: OMIM phenotype: CYSTINURIA CYSTINURIA, TYPE A, INCLUDED Gene map locus 2p16.3 (link from NCBI) | ENSP00000260649 | ORTHOMCL473 | jaccard_738 |
| ENSP00000023064 | ORTHOMCL11005 | jaccard_107 | |
| 220110: OMIM phenotype: COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF (link from Ensembl BioMart) | ENSP00000255390 | ORTHOMCL3010 | jaccard_2245 |
| ENSP00000277404 | ORTHOMCL5579 | jaccard_4144 | |
| ENSP00000252785 | ORTHOMCL3010 | jaccard_2245 | |
| ENSP00000016171 | ORTHOMCL3239 | jaccard_2756 | |
| 220111: OMIM phenotype: LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC Gene map locus 2p21-p16 (link from NCBI) | ENSP00000352170 | ORTHOMCL3342 | jaccard_22 |
| ENSP00000260665 | ORTHOMCL3342 | jaccard_22 | |
| 220150: OMIM phenotype: HYPOURICEMIA, RENAL URIC ACID UROLITHIASIS, INCLUDED Gene map locus 11q13 (link from NCBI) | ENSP00000301893 | ORTHOMCL25109 | jaccard_26 |
| ENSP00000336836 | ORTHOMCL22181 | jaccard_26 | |
| ENSP00000348542 | ORTHOMCL22181 | jaccard_26 | |
| 220290: OMIM phenotype: DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1 DEAFNESS, NONSYNDROMIC SENSORINEURAL, DIGENIC, INCLUDED Gene map locus 13q11-q12 (link from NCBI) | ENSP00000298247 | ORTHOMCL13321 | jaccard_152 |
| 220400: OMIM phenotype: JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1 Gene map locus 21q22.1-q22.2, 11p15.5 (link from NCBI) | ENSP00000337255 | ORTHOMCL20292 | jaccard_5863 |
| ENSP00000342896 | ORTHOMCL24662 | jaccard_435 | |
| ENSP00000334497 | ORTHOMCL24662 | jaccard_435 | |
| ENSP00000155840 | ORTHOMCL12272 | jaccard_435 | |
| 221770: OMIM phenotype: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL Gene map locus 19q13.1, 6p21.2 (link from NCBI) | ENSP00000262629 | ORTHOMCL22777 | jaccard_14527 |
| ENSP00000211184 | ORTHOMCL17034 | jaccard_8477 | |
| 222100: OMIM gene: DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM DIABETES MELLITUS, INSULIN-DEPENDENT, 1, INCLUDED; IDDM1, INCLUDED Gene map locus Xp11.23-q13.3, 12q24.2, 12q24.2, 1p13, 6p21.3 (link from NCBI) | ENSP00000276059 | ORTHOMCL25036 | jaccard_12268 |
| ENSP00000202917 | ORTHOMCL8055 | jaccard_1083 | |
| ENSP00000257555 | ORTHOMCL23546 | jaccard_1379 | |
| ENSP00000256635 | ORTHOMCL7822 | jaccard_4863 | |
| ENSP00000346621 | ORTHOMCL7822 | ||
| ENSP00000355339 | ORTHOMCL8055 | jaccard_1083 | |
| ENSP00000352833 | ORTHOMCL7822 | jaccard_4863 | |
| 222300: OMIM phenotype: WOLFRAM SYNDROME Gene map locus 4p16.1 (link from NCBI) | ENSP00000226760 | ORTHOMCL9713 | jaccard_4920 |
| 222600: OMIM phenotype: DIASTROPHIC DYSPLASIA Gene map locus 5q32-q33.1 (link from NCBI) | ENSP00000286298 | ORTHOMCL7204 | jaccard_193 |
| 222700: OMIM phenotype: LYSINURIC PROTEIN INTOLERANCE; LPI Gene map locus 14q11.2 (link from NCBI) | ENSP00000285850 | ORTHOMCL6424 | jaccard_107 |
| 222745: OMIM gene: 2,4-@DIENOYL-CoA REDUCTASE 1; DECR1 2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY, INCLUDED Gene map locus 8q21.3 (link from Ensembl BioMart) | ENSP00000220764 | ORTHOMCL8195 | jaccard_21 |
| 222748: OMIM gene: DIHYDROPYRIMIDINASE; DPYS DIHYDROPYRIMIDINURIA, INCLUDED Gene map locus 8q22 (link from Ensembl BioMart) | ENSP00000276651 | ORTHOMCL1232 | jaccard_486 |
| 222765: OMIM phenotype: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 Gene map locus 1q42 (link from NCBI) | ENSP00000235553 | ORTHOMCL9041 | jaccard_1116 |
| 222800: OMIM gene: DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE 2,3-@BISPHOSPHOGLYCERATE PHOSPHATASE; BPGM, INCLUDED Gene map locus 7q31-q34 (link from Ensembl BioMart) | ENSP00000342032 | ORTHOMCL12722 | jaccard_720 |
| 222900: OMIM phenotype: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Gene map locus 3q25-q26 (link from NCBI) | ENSP00000264382 | ORTHOMCL648 | jaccard_371 |
| 223100: OMIM phenotype: HYPOLACTASIA, ADULT TYPE LACTASE PERSISTENCE, INCLUDED Gene map locus 2q21, 2q21 (link from NCBI) | ENSP00000264162 | ORTHOMCL89 | jaccard_204 |
| ENSP00000264156 | ORTHOMCL3109 | jaccard_240 | |
| 223360: OMIM phenotype: DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL Gene map locus 9q34 (link from NCBI) | ENSP00000263611 | ORTHOMCL10748 | jaccard_2701 |
| 223800: OMIM phenotype: DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC Gene map locus 18q12-q21.1 (link from NCBI) | ENSP00000269445 | ORTHOMCL8236 | jaccard_4775 |
| 223900: OMIM phenotype: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 Gene map locus 9q31 (link from NCBI) | ENSP00000262535 | ORTHOMCL4263 | jaccard_3325 |
| 224050: OMIM phenotype: CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH Gene map locus 9p24 (link from NCBI) | ENSP00000344715 | ORTHOMCL912 | jaccard_5 |
| ENSP00000327160 | ORTHOMCL912 | jaccard_5 | |
| 224120: OMIM phenotype: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I Gene map locus 15q15 (link from NCBI) | ENSP00000348564 | ORTHOMCL4824 | jaccard_4085 |
| ENSP00000267892 | ORTHOMCL4824 | jaccard_4085 | |
| 224900: OMIM phenotype: ECTODERMAL DYSPLASIA, ANHIDROTIC Gene map locus 1q42.2-q43, 2q11-q13 (link from NCBI) | ENSP00000335076 | ORTHOMCL15040 | jaccard_11722 |
| ENSP00000258443 | ORTHOMCL21187 | jaccard_5293 | |
| 225000: OMIM phenotype: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 ROSSELLI-GULIENETTI SYNDROME, INCLUDED Gene map locus 11q23-q24 (link from NCBI) | ENSP00000345289 | ORTHOMCL19105 | jaccard_1277 |
| ENSP00000344974 | ORTHOMCL19105 | jaccard_1277 | |
| ENSP00000264025 | ORTHOMCL24234 | jaccard_1277 | |
| 225060: OMIM phenotype: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE Gene map locus 11q23-q24 (link from NCBI) | ENSP00000345289 | ORTHOMCL19105 | jaccard_1277 |
| ENSP00000264025 | ORTHOMCL24234 | jaccard_1277 | |
| ENSP00000344974 | ORTHOMCL19105 | jaccard_1277 | |
| 225400: OMIM phenotype: EHLERS-DANLOS SYNDROME, TYPE VI Gene map locus 1p36.3-p36.2 (link from NCBI) | ENSP00000196061 | ORTHOMCL2445 | jaccard_1784 |
| 225410: OMIM phenotype: EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE Gene map locus 5q23 (link from NCBI) | ENSP00000274609 | ||
| ENSP00000251582 | ORTHOMCL606 | jaccard_41 | |
| 225500: OMIM phenotype: ELLIS-VAN CREVELD SYNDROME; EVC Gene map locus 4p16, 4p16 (link from NCBI) | ENSP00000342144 | ORTHOMCL12386 | jaccard_3 |
| ENSP00000311683 | ORTHOMCL12386 | jaccard_3 | |
| ENSP00000264956 | ORTHOMCL20318 | ||
| 226200: OMIM phenotype: ENTEROKINASE DEFICIENCY Gene map locus 21q21 (link from NCBI) | ENSP00000284885 | ORTHOMCL16695 | jaccard_34 |
| 226400: OMIM phenotype: EPIDERMODYSPLASIA VERRUCIFORMIS; EV Gene map locus 17q25, 17q25 (link from NCBI) | ENSP00000313408 | ORTHOMCL11967 | jaccard_517 |
| ENSP00000325561 | ORTHOMCL14555 | jaccard_517 | |
| 226600: OMIM phenotype: EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1 Gene map locus 3p21.3 (link from NCBI) | ENSP00000332371 | ORTHOMCL92 | jaccard_0 |
| 226650: OMIM phenotype: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB Gene map locus 18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3 (link from NCBI) | ENSP00000339866 | ORTHOMCL8140 | jaccard_0 |
| ENSP00000264144 | ORTHOMCL22359 | jaccard_5 | |
| ENSP00000344079 | ORTHOMCL7930 | jaccard_6244 | |
| ENSP00000324532 | ORTHOMCL1452 | jaccard_5 | |
| ENSP00000200181 | ORTHOMCL7930 | jaccard_6244 | |
| ENSP00000348384 | ORTHOMCL13022 | jaccard_5 | |
| ENSP00000347288 | ORTHOMCL13022 | jaccard_5 | |
| ENSP00000340937 | ORTHOMCL8140 | jaccard_0 | |
| ENSP00000269217 | ORTHOMCL1452 | jaccard_5 | |
| 226670: OMIM phenotype: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY Gene map locus 8q24 (link from NCBI) | ENSP00000347044 | ORTHOMCL82 | jaccard_3 |
| ENSP00000350277 | ORTHOMCL82 | jaccard_3 | |
| ENSP00000346602 | ORTHOMCL82 | jaccard_3 | |
| ENSP00000323856 | ORTHOMCL82 | jaccard_3 | |
| ENSP00000344848 | ORTHOMCL82 | jaccard_3 | |
| ENSP00000348702 | ORTHOMCL82 | jaccard_3 | |
| ENSP00000349868 | ORTHOMCL82 | jaccard_3 | |
| 226700: OMIM phenotype: EPIDERMOLYSIS BULLOSA LETALIS EPILIGRIN, INCLUDED Gene map locus 18q11.2, 1q32, 1q25-q31 (link from NCBI) | ENSP00000269217 | ORTHOMCL1452 | jaccard_5 |
| ENSP00000264144 | ORTHOMCL22359 | jaccard_5 | |
| ENSP00000348384 | ORTHOMCL13022 | jaccard_5 | |
| ENSP00000347288 | ORTHOMCL13022 | jaccard_5 | |
| ENSP00000324532 | ORTHOMCL1452 | jaccard_5 | |
| 226730: OMIM phenotype: EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA URETEROVESICAL STENOSIS, INCLUDED Gene map locus 17q11-qter, Chr.2 (link from NCBI) | ENSP00000264107 | ORTHOMCL5612 | jaccard_160 |
| ENSP00000344079 | ORTHOMCL7930 | jaccard_6244 | |
| ENSP00000264106 | ORTHOMCL5612 | jaccard_160 | |
| ENSP00000200181 | ORTHOMCL7930 | jaccard_6244 | |
| 226900: OMIM phenotype: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4 Gene map locus 5q32-q33.1 (link from NCBI) | ENSP00000286298 | ORTHOMCL7204 | jaccard_193 |
| 226980: OMIM phenotype: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS Gene map locus 2p12 (link from NCBI) | ENSP00000307235 | ORTHOMCL8369 | jaccard_1225 |
| 227300: OMIM phenotype: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D Gene map locus 18q21.3-q22, 2p21-p16.3 (link from NCBI) | ENSP00000317271 | ORTHOMCL7789 | jaccard_3365 |
| ENSP00000251047 | ORTHOMCL6258 | jaccard_1719 | |
| 227400: OMIM gene: FACTOR V DEFICIENCY COAGULATION FACTOR V, INCLUDED; F5, INCLUDED Gene map locus 1q23 (link from Ensembl BioMart) | ENSP00000355054 | ORTHOMCL3458 | jaccard_716 |