227500-241530 --- 254770-268100
| OMIM ID: disease or gene description | Ensembl Peptide ID | OrthoMCL Family | Jaccard Coefficient Cluster |
|---|---|---|---|
| 241550: OMIM phenotype: HYPOPLASTIC LEFT HEART SYNDROME Gene map locus 6q21-q23.2 (link from NCBI) | ENSP00000282561 | ORTHOMCL9275 | jaccard_152 |
| 242100: OMIM phenotype: ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1 Gene map locus 17p13.1, 17p13.1, 14q11.2 (link from NCBI) | ENSP00000206765 | ORTHOMCL1425 | jaccard_399 |
| ENSP00000315167 | ORTHOMCL15954 | jaccard_693 | |
| ENSP00000314879 | ORTHOMCL887 | jaccard_693 | |
| 242300: OMIM phenotype: ICHTHYOSIS, LAMELLAR, 1; LI1 SELF-HEALING COLLODION BABY, INCLUDED Gene map locus 14q11.2 (link from NCBI) | ENSP00000206765 | ORTHOMCL1425 | jaccard_399 |
| 242500: OMIM phenotype: ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE Gene map locus 2q34 (link from NCBI) | ENSP00000272895 | ORTHOMCL110 | jaccard_161 |
| 242650: OMIM phenotype: PRIMARY CILIARY DYSKINESIA; PCD CILIARY DYSKINESIA, PRIMARY, 1, INCLUDED; CILD1, INCLUDED Gene map locus 9p21-p13 (link from NCBI) | ENSP00000330671 | ORTHOMCL40 | jaccard_142 |
| ENSP00000242317 | ORTHOMCL6531 | jaccard_239 | |
| 242860: OMIM phenotype: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME Gene map locus 20q11.2 (link from NCBI) | ENSP00000328547 | ORTHOMCL4107 | jaccard_1185 |
| ENSP00000201963 | ORTHOMCL4107 | jaccard_1185 | |
| ENSP00000313397 | ORTHOMCL4107 | jaccard_1185 | |
| ENSP00000337764 | ORTHOMCL4107 | jaccard_1185 | |
| 242900: OMIM phenotype: IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE Gene map locus 2q34-q36 (link from NCBI) | ENSP00000349823 | ORTHOMCL762 | jaccard_5380 |
| 243300: OMIM phenotype: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC; BRIC Gene map locus 18q21 (link from NCBI) | ENSP00000283684 | ORTHOMCL80 | jaccard_30 |
| 243305: OMIM gene: INVERSIN; INVS Gene map locus 9q31 (link from Ensembl BioMart) | ENSP00000262456 | ORTHOMCL10704 | jaccard_11 |
| ENSP00000262457 | ORTHOMCL10704 | jaccard_11 | |
| 243400: OMIM gene: ISONIAZID INACTIVATION ARYLAMINE N-ACETYLTRANSFERASE 2, INCLUDED; NAT2, INCLUDED Gene map locus 8p23.1-p21.3 (link from Ensembl BioMart) | ENSP00000286479 | jaccard_1846 | |
| 243500: OMIM phenotype: ISOVALERIC ACIDEMIA; IVA Gene map locus 15q14-q15 (link from NCBI) | ENSP00000249760 | ORTHOMCL6879 | jaccard_236 |
| 243800: OMIM phenotype: JOHANSON-BLIZZARD SYNDROME; JBS Gene map locus 15q15-q21.1 (link from NCBI) | ENSP00000290650 | ORTHOMCL1841 | jaccard_2149 |
| 244400: OMIM phenotype: KARTAGENER SYNDROME Gene map locus 9p21-p13, 7p21, 5p15-p14 (link from NCBI) | ENSP00000242317 | ORTHOMCL6531 | jaccard_239 |
| ENSP00000265104 | ORTHOMCL40 | jaccard_142 | |
| ENSP00000330671 | ORTHOMCL40 | jaccard_142 | |
| 244460: OMIM phenotype: KENNY-CAFFEY SYNDROME, TYPE 1; KCS Gene map locus 1q42-q43 (link from NCBI) | ENSP00000264180 | ORTHOMCL3744 | jaccard_1588 |
| 245000: OMIM phenotype: PAPILLON-LEFEVRE SYNDROME; PALS Gene map locus 11q14.1-q14.3 (link from NCBI) | ENSP00000227266 | ORTHOMCL9916 | jaccard_73 |
| ENSP00000327064 | |||
| 245010: OMIM phenotype: HAIM-MUNK SYNDROME; HMS Gene map locus 11q14.1-q14.3 (link from NCBI) | ENSP00000227266 | ORTHOMCL9916 | jaccard_73 |
| ENSP00000327064 | |||
| 245050: OMIM gene: 3-@OXOACID CoA TRANSFERASE; OXCT SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY, INCLUDED Gene map locus 5p13 (link from Ensembl BioMart) | ENSP00000196371 | ORTHOMCL7821 | jaccard_4379 |
| 245150: OMIM phenotype: KEUTEL SYNDROME Gene map locus 12p13.1-p12.3 (link from NCBI) | ENSP00000228938 | ORTHOMCL19890 | jaccard_11498 |
| 245200: OMIM phenotype: KRABBE DISEASE Gene map locus 14q31 (link from NCBI) | ENSP00000261304 | ORTHOMCL7728 | jaccard_4789 |
| 245300: OMIM phenotype: KURU, SUSCEPTIBILITY TO (link from Ensembl BioMart) | ENSP00000306540 | ORTHOMCL20988 | |
| 245349: OMIM phenotype: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Gene map locus 11p13 (link from NCBI) | ENSP00000227868 | ORTHOMCL22114 | jaccard_588 |
| 245480: OMIM phenotype: SPECIFIC GRANULE DEFICIENCY; SGD Gene map locus 14q11.2, 3q21-q23 (link from NCBI) | ENSP00000231751 | ORTHOMCL17639 | jaccard_1216 |
| ENSP00000206513 | ORTHOMCL11224 | jaccard_3666 | |
| 245590: OMIM phenotype: LARON SYNDROME, TYPE II GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY, INCLUDED Gene map locus 17q11.2 (link from NCBI) | ENSP00000293328 | ORTHOMCL952 | jaccard_685 |
| 245660: OMIM phenotype: LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS Gene map locus 18q11.2 (link from NCBI) | ENSP00000324532 | ORTHOMCL1452 | jaccard_5 |
| ENSP00000269217 | ORTHOMCL1452 | jaccard_5 | |
| 245900: OMIM phenotype: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Gene map locus 16q22.1 (link from NCBI) | ENSP00000264005 | ORTHOMCL13039 | jaccard_2024 |
| 246200: OMIM phenotype: LEPRECHAUNISM INSULIN RECEPTOR, DEFECT IN, INCLUDED Gene map locus 19p13.2 (link from NCBI) | ENSP00000303830 | ORTHOMCL2484 | jaccard_512 |
| 246300: OMIM phenotype: LEPROSY, SUSCEPTIBILITY TO Gene map locus 4q32 (link from NCBI) | ENSP00000260010 | ORTHOMCL10604 | jaccard_7 |
| 246530: OMIM gene: LEUKOTRIENE C4 SYNTHASE; LTC4S LEUKOTRIENE C4 SYNTHASE DEFICIENCY, INCLUDED Gene map locus 5q35 (link from Ensembl BioMart) | ENSP00000292596 | ORTHOMCL12065 | jaccard_2114 |
| 246600: OMIM gene: LIPASE, CONGENITAL ABSENCE OF PANCREATIC PANCREATIC LIPASE, INCLUDED; PNLIP, INCLUDED Gene map locus 10q26.1 (link from Ensembl BioMart) | ENSP00000277888 | ORTHOMCL13805 | jaccard_300 |
| 246700: OMIM phenotype: CHYLOMICRON RETENTION DISEASE; CMRD Gene map locus 5q31.1 (link from NCBI) | ENSP00000282606 | ORTHOMCL1090 | jaccard_53 |
| 247100: OMIM phenotype: LIPOID PROTEINOSIS OF URBACH AND WIETHE Gene map locus 1q21 (link from NCBI) | ENSP00000271630 | ORTHOMCL18299 | jaccard_7060 |
| ENSP00000271629 | ORTHOMCL24089 | jaccard_7060 | |
| 247200: OMIM phenotype: MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED Gene map locus 17p13.3 (link from NCBI) | ENSP00000264335 | ORTHOMCL182 | jaccard_195 |
| ENSP00000006951 | ORTHOMCL2179 | jaccard_17 | |
| ENSP00000314080 | ORTHOMCL4994 | jaccard_85 | |
| 248200: OMIM phenotype: STARGARDT DISEASE 1; STGD1 FUNDUS FLAVIMACULATUS, INCLUDED; FFM, INCLUDED Gene map locus 8q21-q22, 1p21-p13 (link from NCBI) | ENSP00000316605 | ORTHOMCL21864 | jaccard_111 |
| ENSP00000355303 | ORTHOMCL110 | jaccard_161 | |
| 248250: OMIM phenotype: HYPOMAGNESEMIA, PRIMARY Gene map locus 3q27 (link from NCBI) | ENSP00000264734 | ORTHOMCL17687 | jaccard_113 |
| 248300: OMIM phenotype: MAL DE MELEDA Gene map locus 8qter (link from NCBI) | ENSP00000246515 | ORTHOMCL18943 | jaccard_652 |
| 248310: OMIM phenotype: MALARIA, INTENSITY OF INFECTION IN ANTIMALARIAL IMMUNE RESPONSE, INCLUDED Gene map locus 17cen-q11.2, 7q11.2, 5q31-q33, 2q14-q21 (link from NCBI) | ENSP00000349354 | ORTHOMCL10412 | jaccard_3757 |
| ENSP00000327251 | ORTHOMCL470 | jaccard_390 | |
| ENSP00000259254 | ORTHOMCL10412 | jaccard_3757 | |
| ENSP00000308165 | ORTHOMCL6895 | jaccard_578 | |
| 248360: OMIM phenotype: MALONYL-CoA DECARBOXYLASE DEFICIENCY Gene map locus 16q24 (link from NCBI) | ENSP00000262430 | ORTHOMCL9188 | jaccard_5444 |
| 248370: OMIM phenotype: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA (link from Ensembl BioMart) | ENSP00000310687 | ORTHOMCL1082 | jaccard_0 |
| 248500: OMIM phenotype: MANNOSIDOSIS, ALPHA B, LYSOSOMAL ALPHA-MANNOSIDOSIS, TYPE II, INCLUDED Gene map locus 19cen-q12 (link from NCBI) | ENSP00000221363 | ORTHOMCL1297 | jaccard_589 |
| 248510: OMIM phenotype: MANNOSIDOSIS, BETA A, LYSOSOMAL Gene map locus 4q22-q25 (link from NCBI) | ENSP00000226578 | ORTHOMCL7528 | jaccard_5054 |
| 248600: OMIM phenotype: MAPLE SYRUP URINE DISEASE MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED Gene map locus 19q13.1-q13.2, 7q31-q32 (link from NCBI) | ENSP00000260559 | ORTHOMCL4737 | jaccard_588 |
| ENSP00000348880 | ORTHOMCL4898 | jaccard_1289 | |
| ENSP00000318351 | ORTHOMCL4898 | jaccard_1289 | |
| ENSP00000205402 | ORTHOMCL2761 | jaccard_458 | |
| ENSP00000269980 | ORTHOMCL2486 | jaccard_838 | |
| 248610: OMIM gene: DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT Gene map locus 1p31 (link from Ensembl BioMart) | ENSP00000260559 | ORTHOMCL4737 | jaccard_588 |
| 248611: OMIM gene: BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB Gene map locus 6p22-p21 (link from Ensembl BioMart) | ENSP00000318351 | ORTHOMCL4898 | jaccard_1289 |
| ENSP00000348880 | ORTHOMCL4898 | jaccard_1289 | |
| 248800: OMIM phenotype: MARINESCO-SJOGREN SYNDROME; MSS Gene map locus 5q31 (link from NCBI) | ENSP00000265195 | ORTHOMCL5733 | jaccard_1756 |
| 248900: OMIM phenotype: MAST SYNDROME Gene map locus 15q21-q22 (link from NCBI) | ENSP00000204566 | ORTHOMCL10225 | jaccard_7220 |
| 249000: OMIM phenotype: MECKEL SYNDROME, TYPE 1; MKS1 Gene map locus 17q23 (link from NCBI) | ENSP00000316631 | ORTHOMCL8697 | jaccard_5944 |
| 249100: OMIM phenotype: FAMILIAL MEDITERRANEAN FEVER; FMF Gene map locus 16p13 (link from NCBI) | ENSP00000219596 | ORTHOMCL14838 | jaccard_20 |
| 249270: OMIM phenotype: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA Gene map locus 1q23.3 (link from NCBI) | ENSP00000236137 | ORTHOMCL1407 | jaccard_728 |
| 249500: OMIM phenotype: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1 Gene map locus 4q25-q26 (link from NCBI) | ENSP00000296498 | ORTHOMCL5334 | jaccard_186 |
| 249700: OMIM phenotype: LANGER MESOMELIC DYSPLASIA Gene map locus Ypter-p11.2, Xpter-p22.32 (link from NCBI) | ENSP00000341131 | ORTHOMCL18208 | |
| 249900: OMIM phenotype: METACHROMATIC LEUKODYSTROPHY DUE TO DEFICIENCY OF CEREBROSIDE SULFATASE ACTIVATOR (link from Ensembl BioMart) | ENSP00000350063 | ORTHOMCL2679 | jaccard_1979 |
| ENSP00000353372 | ORTHOMCL2679 | jaccard_1979 | |
| 250100: OMIM phenotype: METACHROMATIC LEUKODYSTROPHY PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED Gene map locus 22q13.31-qter (link from NCBI) | ENSP00000348406 | ORTHOMCL4520 | jaccard_197 |
| ENSP00000216124 | ORTHOMCL4520 | jaccard_197 | |
| 250790: OMIM gene: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 CYTOCHROME b5, INCLUDED; CYB5, INCLUDED Gene map locus 18q23 (link from Ensembl BioMart) | ENSP00000341625 | ORTHOMCL1103 | jaccard_996 |
| ENSP00000299438 | ORTHOMCL1103 | jaccard_996 | |
| 250800: OMIM gene: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE DIAPHORASE, INCLUDED; DIA1, INCLUDED Gene map locus 22q13.31-qter (link from Ensembl BioMart) | ENSP00000354468 | ORTHOMCL918 | jaccard_904 |
| ENSP00000338461 | ORTHOMCL918 | jaccard_904 | |
| 250850: OMIM gene: METHIONINE ADENOSYLTRANSFERASE DEFICIENCY METHIONINE ADENOSYLTRANSFERASE I, ALPHA, INCLUDED; MAT1A, INCLUDED Gene map locus 10q22 (link from Ensembl BioMart) | ENSP00000280867 | ORTHOMCL328 | jaccard_615 |
| 250940: OMIM phenotype: METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene map locus 1q43 (link from NCBI) | ENSP00000264178 | ORTHOMCL12567 | jaccard_8713 |
| 250950: OMIM phenotype: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I Gene map locus Chr.9 (link from NCBI) | ENSP00000277161 | ORTHOMCL2756 | jaccard_153 |
| 251000: OMIM phenotype: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED Gene map locus 6p21 (link from NCBI) | ENSP00000274813 | ORTHOMCL9233 | jaccard_6931 |
| 251100: OMIM phenotype: METHYLMALONIC ACIDURIA, cblA TYPE Gene map locus 4q31.1-q31.2 (link from NCBI) | ENSP00000281317 | ORTHOMCL9345 | jaccard_5481 |
| 251110: OMIM phenotype: METHYLMALONIC ACIDURIA, cblB TYPE Gene map locus 12q24 (link from NCBI) | ENSP00000266839 | ORTHOMCL13163 | jaccard_7802 |
| 251170: OMIM gene: MEVALONATE KINASE; MVK MEVALONIC ACIDURIA, INCLUDED Gene map locus 12q24 (link from Ensembl BioMart) | ENSP00000228510 | ORTHOMCL2307 | jaccard_2392 |
| 251200: OMIM phenotype: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1 Gene map locus 19q13.1-q13.2, 15q15-q21, 8p23 (link from NCBI) | ENSP00000325924 | ORTHOMCL4195 | |
| ENSP00000342924 | ORTHOMCL24767 | jaccard_11019 | |
| 251260: OMIM phenotype: NIJMEGEN BREAKAGE SYNDROME BERLIN BREAKAGE SYNDROME, INCLUDED; BBS, INCLUDED Gene map locus 8q21 (link from NCBI) | ENSP00000265433 | ORTHOMCL10949 | jaccard_14649 |
| 251880: OMIM phenotype: MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM Gene map locus 16q22, 13q12.2-q13, 2p13 (link from NCBI) | ENSP00000258645 | ORTHOMCL3967 | jaccard_1304 |
| ENSP00000264093 | ORTHOMCL10152 | jaccard_1924 | |
| ENSP00000306964 | jaccard_1924 | ||
| ENSP00000299697 | ORTHOMCL8469 | jaccard_1924 | |
| 252010: OMIM phenotype: MITOCHONDRIAL COMPLEX I DEFICIENCY Gene map locus 1q23, 11q13, 5q12.1, 5q11.1, 5pter-p15.33, 2q33-q34 (link from NCBI) | ENSP00000296684 | ORTHOMCL6213 | jaccard_3989 |
| ENSP00000296597 | ORTHOMCL9033 | jaccard_5859 | |
| ENSP00000322450 | ORTHOMCL7287 | jaccard_3134 | |
| ENSP00000233190 | ORTHOMCL4067 | jaccard_3321 | |
| ENSP00000289897 | ORTHOMCL6604 | jaccard_3432 | |
| ENSP00000274137 | ORTHOMCL6433 | jaccard_4830 | |
| ENSP00000233627 | ORTHOMCL4447 | jaccard_2460 | |
| 252011: OMIM phenotype: MITOCHONDRIAL COMPLEX II DEFICIENCY Gene map locus 5p15 (link from NCBI) | ENSP00000264932 | ORTHOMCL642 | jaccard_782 |
| ENSP00000332417 | ORTHOMCL642 | jaccard_782 | |
| 252150: OMIM phenotype: MOLYBDENUM COFACTOR DEFICIENCY MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A, INCLUDED Gene map locus 14q24, 6p21.3, 5q11 (link from NCBI) | ENSP00000355160 | ORTHOMCL11398 | jaccard_6278 |
| ENSP00000312771 | ORTHOMCL5891 | jaccard_3987 | |
| ENSP00000309843 | ORTHOMCL1904 | jaccard_2173 | |
| ENSP00000303019 | ORTHOMCL5891 | jaccard_3987 | |
| ENSP00000339580 | ORTHOMCL7439 | jaccard_6471 | |
| ENSP00000346751 | ORTHOMCL1904 | jaccard_2173 | |
| ENSP00000344794 | ORTHOMCL1904 | jaccard_2173 | |
| 252500: OMIM phenotype: MUCOLIPIDOSIS II Gene map locus 12q23.3 (link from NCBI) | ENSP00000299314 | ORTHOMCL9100 | jaccard_5992 |
| 252600: OMIM phenotype: MUCOLIPIDOSIS IIIA MUCOLIPIDOSIS IIIA, ATYPICAL, INCLUDED Gene map locus 12q23.3 (link from NCBI) | ENSP00000299314 | ORTHOMCL9100 | jaccard_5992 |
| 252605: OMIM phenotype: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C Gene map locus 16p (link from NCBI) | ENSP00000204679 | ORTHOMCL13604 | jaccard_9627 |
| 252650: OMIM phenotype: MUCOLIPIDOSIS IV Gene map locus 19p13.3-p13.2 (link from NCBI) | ENSP00000264079 | ORTHOMCL25059 | jaccard_1714 |
| 252800: OMIM gene: ALPHA-L-IDURONIDASE; IDUA Gene map locus 4p16.3 (link from Ensembl BioMart) | ENSP00000247933 | ORTHOMCL5318 | jaccard_4010 |
| 252900: OMIM phenotype: MUCOPOLYSACCHARIDOSIS TYPE IIIA Gene map locus 17q25.3 (link from NCBI) | ENSP00000314606 | ORTHOMCL6037 | jaccard_197 |
| 252920: OMIM phenotype: MUCOPOLYSACCHARIDOSIS TYPE IIIB Gene map locus 17q21 (link from NCBI) | ENSP00000225927 | ORTHOMCL7924 | jaccard_5093 |
| 252940: OMIM phenotype: MUCOPOLYSACCHARIDOSIS TYPE IIID Gene map locus 12q14 (link from NCBI) | ENSP00000258145 | ORTHOMCL9627 | jaccard_197 |
| 253000: OMIM gene: MUCOPOLYSACCHARIDOSIS TYPE IVA GALACTOSAMINE-6-SULFATE SULFATASE, INCLUDED; GALNS, INCLUDED Gene map locus 16q24.3 (link from Ensembl BioMart) | ENSP00000268695 | ORTHOMCL19394 | jaccard_197 |
| 253010: OMIM phenotype: MUCOPOLYSACCHARIDOSIS TYPE IVB (link from Ensembl BioMart) | ENSP00000306920 | ORTHOMCL535 | jaccard_319 |
| 253200: OMIM gene: MUCOPOLYSACCHARIDOSIS TYPE VI ARYLSULFATASE B, INCLUDED; ARSB, INCLUDED Gene map locus 5q11-q13 (link from Ensembl BioMart) | ENSP00000264914 | ORTHOMCL2785 | jaccard_197 |
| ENSP00000342327 | ORTHOMCL2785 | jaccard_197 | |
| 253220: OMIM gene: MUCOPOLYSACCHARIDOSIS TYPE VII BETA-GLUCURONIDASE, INCLUDED; GUSB, INCLUDED Gene map locus 7q21.11 (link from Ensembl BioMart) | ENSP00000302728 | ORTHOMCL2375 | jaccard_2646 |
| 253250: OMIM phenotype: MULIBREY NANISM Gene map locus 17q22-q23 (link from NCBI) | ENSP00000262294 | ORTHOMCL8461 | jaccard_4712 |
| 253260: OMIM phenotype: BIOTINIDASE DEFICIENCY MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET Gene map locus 3p25 (link from NCBI) | ENSP00000306477 | ORTHOMCL3653 | jaccard_2036 |
| 253270: OMIM phenotype: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Gene map locus 21q22.1 (link from NCBI) | ENSP00000338387 | ORTHOMCL1512 | jaccard_3984 |
| 253280: OMIM phenotype: MUSCLE-EYE-BRAIN DISEASE; MEB Gene map locus 19q13.3, 1p34-p33 (link from NCBI) | ENSP00000319315 | ORTHOMCL10937 | jaccard_6018 |
| ENSP00000326570 | ORTHOMCL8642 | jaccard_6007 | |
| 253300: OMIM phenotype: SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 Gene map locus 5q12.2-q13.3 (link from NCBI) | ENSP00000351847 | ORTHOMCL24375 | jaccard_3382 |
| ENSP00000305857 | ORTHOMCL24375 | jaccard_3382 | |
| ENSP00000194097 | ORTHOMCL4353 | jaccard_2822 | |
| 253400: OMIM phenotype: SPINAL MUSCULAR ATROPHY, TYPE III; SMA3 Gene map locus 5q12.2-q13.3 (link from NCBI) | ENSP00000305857 | ORTHOMCL24375 | jaccard_3382 |
| ENSP00000351847 | ORTHOMCL24375 | jaccard_3382 | |
| 253550: OMIM phenotype: SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 Gene map locus 5q12.2-q13.3 (link from NCBI) | ENSP00000305857 | ORTHOMCL24375 | jaccard_3382 |
| ENSP00000351847 | ORTHOMCL24375 | jaccard_3382 | |
| 253600: OMIM phenotype: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A Gene map locus 15q15.1-q21.1 (link from NCBI) | ENSP00000348667 | ORTHOMCL25007 | jaccard_938 |
| ENSP00000326281 | ORTHOMCL436 | jaccard_213 | |
| ENSP00000350181 | ORTHOMCL436 | jaccard_213 | |
| ENSP00000336840 | ORTHOMCL18379 | jaccard_938 | |
| ENSP00000338950 | ORTHOMCL18379 | jaccard_938 | |
| ENSP00000183936 | ORTHOMCL436 | jaccard_213 | |
| 253601: OMIM phenotype: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B Gene map locus 2p13.3-p13.1 (link from NCBI) | ENSP00000258104 | ORTHOMCL522 | jaccard_410 |
| 253700: OMIM phenotype: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C Gene map locus 13q12 (link from NCBI) | ENSP00000218867 | ORTHOMCL11736 | jaccard_1489 |
| 253800: OMIM phenotype: FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD Gene map locus 9q31 (link from NCBI) | ENSP00000223528 | ORTHOMCL1610 | jaccard_3407 |
| 254090: OMIM phenotype: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD Gene map locus 21q22.3, 21q22.3, 2q37 (link from NCBI) | ENSP00000295550 | ORTHOMCL4190 | jaccard_2 |
| ENSP00000312529 | ORTHOMCL10003 | jaccard_2 | |
| ENSP00000355180 | ORTHOMCL10883 | jaccard_2 | |
| ENSP00000315609 | ORTHOMCL4190 | jaccard_2 | |
| ENSP00000315873 | ORTHOMCL4190 | jaccard_2 | |
| ENSP00000300527 | ORTHOMCL10003 | jaccard_2 | |
| ENSP00000350497 | ORTHOMCL10003 | jaccard_2 | |
| ENSP00000295546 | ORTHOMCL4190 | jaccard_2 | |
| 254110: OMIM phenotype: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H Gene map locus 9q31-q34.1 (link from NCBI) | ENSP00000238349 | ORTHOMCL15091 | jaccard_428 |
| 254130: OMIM phenotype: MIYOSHI MYOPATHY; MM Gene map locus 2p13.3-p13.1 (link from NCBI) | ENSP00000258104 | ORTHOMCL522 | jaccard_410 |
| 254200: OMIM phenotype: MYASTHENIA GRAVIS; MG (link from Ensembl BioMart) | ENSP00000304290 | ORTHOMCL17288 | jaccard_32 |
| ENSP00000293780 | ORTHOMCL18373 | jaccard_32 | |
| ENSP00000337103 | ORTHOMCL3336 | jaccard_244 | |
| ENSP00000261007 | ORTHOMCL12557 | jaccard_32 | |
| ENSP00000258385 | ORTHOMCL16405 | jaccard_32 | |
| ENSP00000346159 | ORTHOMCL254 | jaccard_149 | |
| ENSP00000310001 | ORTHOMCL3336 | jaccard_244 | |
| 254210: OMIM phenotype: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA Gene map locus 10q11.2 (link from NCBI) | ENSP00000337103 | ORTHOMCL3336 | jaccard_244 |
| ENSP00000277765 | ORTHOMCL3336 | jaccard_244 | |
| ENSP00000345878 | ORTHOMCL3336 | jaccard_244 | |
| ENSP00000343486 | ORTHOMCL3336 | jaccard_244 | |
| ENSP00000310001 | ORTHOMCL3336 | jaccard_244 | |
| 254450: OMIM phenotype: MYELOFIBROSIS, FAMILIAL Gene map locus 9p24 (link from NCBI) | ENSP00000212292 | ORTHOMCL7844 | jaccard_1095 |
| 254500: OMIM phenotype: MYELOMA, MULTIPLE AMYLOIDOSIS, PRIMARY, INCLUDED; AL, INCLUDED Gene map locus 13q22-q34, 11q13 (link from NCBI) | ENSP00000227507 | ORTHOMCL14831 | jaccard_129 |
| ENSP00000310449 | ORTHOMCL6783 | jaccard_969 | |
| ENSP00000349393 | ORTHOMCL6783 | jaccard_969 | |
| 254600: OMIM phenotype: MYELOPEROXIDASE DEFICIENCY Gene map locus 17q23.1 (link from NCBI) | ENSP00000225275 | ORTHOMCL8809 | jaccard_524 |