209901-227400 --- 241550-254600
| OMIM ID: disease or gene description | Ensembl Peptide ID | OrthoMCL Family | Jaccard Coefficient Cluster |
|---|---|---|---|
| 227500: OMIM gene: FACTOR VII DEFICIENCY COAGULATION FACTOR VII, INCLUDED; F7, INCLUDED Gene map locus 13q34 (link from Ensembl BioMart) | ENSP00000261967 | ORTHOMCL9596 | jaccard_10 |
| ENSP00000329546 | ORTHOMCL9596 | jaccard_10 | |
| 227600: OMIM gene: FACTOR X DEFICIENCY COAGULATION FACTOR X, INCLUDED; F10, INCLUDED Gene map locus 13q34 (link from Ensembl BioMart) | ENSP00000246496 | ORTHOMCL20909 | jaccard_10 |
| 227645: OMIM gene: FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC FANCC GENE, INCLUDED Gene map locus 9q22.3 (link from Ensembl BioMart) | ENSP00000289081 | ORTHOMCL17030 | jaccard_9121 |
| 227646: OMIM gene: FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 FANCD2 GENE Gene map locus 3p25.3 (link from Ensembl BioMart) | ENSP00000287647 | ORTHOMCL9880 | jaccard_5573 |
| 227650: OMIM phenotype: FANCONI ANEMIA; FA FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED Gene map locus 16q24.3 (link from NCBI) | ENSP00000298002 | ORTHOMCL10762 | jaccard_6651 |
| ENSP00000233741 | ORTHOMCL6384 | jaccard_4328 | |
| ENSP00000326819 | ORTHOMCL20943 | jaccard_13824 | |
| ENSP00000229769 | ORTHOMCL17089 | ||
| ENSP00000287647 | ORTHOMCL9880 | jaccard_5573 | |
| ENSP00000345650 | |||
| ENSP00000330875 | ORTHOMCL14857 | jaccard_7884 | |
| ENSP00000267430 | ORTHOMCL15744 | ||
| ENSP00000306281 | ORTHOMCL23272 | ||
| ENSP00000259008 | ORTHOMCL6414 | jaccard_600 | |
| ENSP00000289081 | ORTHOMCL17030 | jaccard_9121 | |
| 227810: OMIM phenotype: FANCONI-BICKEL SYNDROME; FBS Gene map locus 3q26.1-q26.3 (link from NCBI) | ENSP00000323568 | ORTHOMCL2668 | jaccard_26 |
| 228000: OMIM gene: FARBER LIPOGRANULOMATOSIS N-ACYLSPHINGOSINE AMIDOHYDROLASE, INCLUDED; ASAH, INCLUDED Gene map locus 8p22-p21.3 (link from Ensembl BioMart) | ENSP00000262097 | ORTHOMCL6352 | jaccard_2430 |
| ENSP00000335217 | ORTHOMCL6352 | jaccard_2430 | |
| 228300: OMIM phenotype: FERTILE EUNUCH SYNDROME Gene map locus 4q21.2 (link from NCBI) | ENSP00000226413 | ORTHOMCL2697 | jaccard_6 |
| 228600: OMIM phenotype: FIBROMATOSIS, JUVENILE HYALINE Gene map locus 4q21 (link from NCBI) | ENSP00000306185 | ORTHOMCL11722 | jaccard_1619 |
| 228900: OMIM phenotype: FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY Gene map locus 20q11.2 (link from NCBI) | ENSP00000246185 | ORTHOMCL15594 | jaccard_130 |
| 228960: OMIM gene: FLAUJEAC FACTOR DEFICIENCY KININOGEN DEFICIENCY, TOTAL, INCLUDED Gene map locus 3q27 (link from Ensembl BioMart) | ENSP00000265023 | ORTHOMCL3436 | jaccard_1785 |
| ENSP00000287611 | ORTHOMCL3436 | jaccard_1785 | |
| 229000: OMIM gene: PREKALLIKREIN DEFICIENCY KALLIKREIN B, PLASMA, INCLUDED; KLKB1, INCLUDED Gene map locus 4q35 (link from Ensembl BioMart) | ENSP00000264690 | ORTHOMCL284 | |
| 229070: OMIM phenotype: FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED Gene map locus 11p13 (link from NCBI) | ENSP00000254122 | ORTHOMCL20343 | jaccard_1775 |
| 229100: OMIM phenotype: FORMIMINOTRANSFERASE DEFICIENCY Gene map locus 21q22.3 (link from NCBI) | ENSP00000291670 | ORTHOMCL11251 | jaccard_3207 |
| 229300: OMIM phenotype: FRIEDREICH ATAXIA 1; FRDA FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED Gene map locus 9q13, 9p23-p11 (link from NCBI) | ENSP00000297735 | ORTHOMCL5168 | jaccard_3265 |
| 229600: OMIM gene: FRUCTOSE INTOLERANCE, HEREDITARY ALDOLASE B, FRUCTOSE-BISPHOSPHATE, INCLUDED; ALDOB, INCLUDED Gene map locus 9q22.3 (link from Ensembl BioMart) | ENSP00000259398 | ORTHOMCL22924 | jaccard_450 |
| 229700: OMIM gene: FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, INCLUDED Gene map locus 9q22.2-q22.3 (link from Ensembl BioMart) | ENSP00000253266 | ORTHOMCL3100 | jaccard_1740 |
| 229800: OMIM gene: FRUCTOSURIA KETOHEXOKINASE; KHK, INCLUDED Gene map locus 2p23.3-p23.2 (link from Ensembl BioMart) | ENSP00000260598 | ORTHOMCL1495 | jaccard_381 |
| ENSP00000260599 | ORTHOMCL1495 | jaccard_381 | |
| 230000: OMIM gene: FUCOSIDOSIS FUCOSIDASE, ALPHA-L, 1, INCLUDED; FUCA1, INCLUDED Gene map locus 1p34 (link from Ensembl BioMart) | ENSP00000312956 | ORTHOMCL1637 | jaccard_2239 |
| 230200: OMIM phenotype: GALACTOKINASE DEFICIENCY GALACTOKINASE DEFICIENCY WITH CATARACT, INCLUDED Gene map locus 17q24 (link from NCBI) | ENSP00000225614 | ORTHOMCL16880 | jaccard_2049 |
| 230350: OMIM phenotype: GALACTOSE EPIMERASE DEFICIENCY Gene map locus 1p36-p35 (link from NCBI) | ENSP00000313026 | ORTHOMCL1670 | jaccard_257 |
| 230400: OMIM phenotype: GALACTOSEMIA Gene map locus 9p13 (link from NCBI) | ENSP00000319899 | ORTHOMCL5216 | jaccard_4195 |
| 230450: OMIM phenotype: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO Gene map locus 6p12 (link from NCBI) | ENSP00000229416 | ORTHOMCL4779 | jaccard_4603 |
| 230500: OMIM gene: GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I GALACTOSIDASE, BETA-1, INCLUDED; GLB1, INCLUDED Gene map locus 3p21.33 (link from Ensembl BioMart) | ENSP00000306920 | ORTHOMCL535 | jaccard_319 |
| ENSP00000305920 | ORTHOMCL535 | jaccard_319 | |
| 230600: OMIM phenotype: GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE (link from Ensembl BioMart) | ENSP00000306920 | ORTHOMCL535 | jaccard_319 |
| 230650: OMIM phenotype: GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III, OR ADULT TYPE (link from Ensembl BioMart) | ENSP00000306920 | ORTHOMCL535 | jaccard_319 |
| 230800: OMIM phenotype: GAUCHER DISEASE, TYPE I Gene map locus 1q21 (link from NCBI) | ENSP00000314508 | ORTHOMCL2150 | jaccard_2230 |
| 230900: OMIM phenotype: GAUCHER DISEASE, TYPE II (link from Ensembl BioMart) | ENSP00000314508 | ORTHOMCL2150 | jaccard_2230 |
| 231000: OMIM phenotype: GAUCHER DISEASE, TYPE III GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED (link from Ensembl BioMart) | ENSP00000314508 | ORTHOMCL2150 | jaccard_2230 |
| 231005: OMIM phenotype: GAUCHER-LIKE DISEASE Gene map locus 1q21 (link from NCBI) | ENSP00000314508 | ORTHOMCL2150 | jaccard_2230 |
| 231090: OMIM phenotype: HYDATIDIFORM MOLE Gene map locus 19q13.4 (link from NCBI) | ENSP00000339491 | ORTHOMCL9363 | jaccard_190 |
| ENSP00000329568 | ORTHOMCL9363 | jaccard_190 | |
| 231100: OMIM phenotype: HEMOCHROMATOSIS, NEONATAL Gene map locus 8q21.3 (link from NCBI) | ENSP00000310721 | ORTHOMCL13453 | |
| 231200: OMIM phenotype: GIANT PLATELET SYNDROME MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE, INCLUDED Gene map locus 22q11.2, 17pter-p12, 3q21 (link from NCBI) | ENSP00000303942 | ORTHOMCL16190 | jaccard_6692 |
| ENSP00000329380 | ORTHOMCL20235 | ||
| 231300: OMIM phenotype: GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A Gene map locus 2p22-p21 (link from NCBI) | ENSP00000260630 | ORTHOMCL8490 | jaccard_9 |
| 231530: OMIM phenotype: 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene map locus 4q22-q26 (link from NCBI) | ENSP00000312288 | ORTHOMCL4896 | jaccard_566 |
| 231550: OMIM phenotype: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA ACHALASIA-ALACRIMA SYNDROME, INCLUDED Gene map locus 12q13 (link from NCBI) | ENSP00000209873 | ORTHOMCL9149 | jaccard_4864 |
| 231670: OMIM phenotype: GLUTARIC ACIDEMIA I Gene map locus 19p13.2 (link from NCBI) | ENSP00000222214 | ORTHOMCL4777 | jaccard_236 |
| 231675: OMIM gene: ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH Gene map locus 4q32-qter (link from Ensembl BioMart) | ENSP00000303552 | ORTHOMCL6555 | jaccard_3646 |
| 231680: OMIM phenotype: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD GLUTARIC ACIDURIA IIA, INCLUDED Gene map locus 19q13.3, 15q23-q25, 4q32-qter (link from NCBI) | ENSP00000311930 | ORTHOMCL4188 | jaccard_3097 |
| ENSP00000303552 | ORTHOMCL6555 | jaccard_3646 | |
| ENSP00000346173 | ORTHOMCL64 | jaccard_35 | |
| ENSP00000267950 | ORTHOMCL4788 | jaccard_4595 | |
| 231900: OMIM phenotype: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO Gene map locus 20q11.2 (link from NCBI) | ENSP00000216951 | ORTHOMCL2378 | jaccard_2486 |
| 231950: OMIM gene: GLUTATHIONURIA GAMMA-GLUTAMYLTRANSFERASE 1, INCLUDED; GGT1, INCLUDED Gene map locus 22q11.1-q11.2 (link from Ensembl BioMart) | ENSP00000248923 | ORTHOMCL446 | jaccard_483 |
| 232000: OMIM gene: PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA Gene map locus 13q32 (link from Ensembl BioMart) | ENSP00000308554 | ORTHOMCL1537 | jaccard_565 |
| 232050: OMIM gene: PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB Gene map locus 3q21-q22 (link from Ensembl BioMart) | ENSP00000251654 | ORTHOMCL10253 | jaccard_2606 |
| 232200: OMIM gene: GLYCOGEN STORAGE DISEASE I GLUCOSE-6-PHOSPHATASE, CATALYTIC, INCLUDED; G6PC, INCLUDED Gene map locus 17q21 (link from Ensembl BioMart) | ENSP00000253801 | ORTHOMCL10510 | jaccard_2219 |
| 232220: OMIM phenotype: GLYCOGEN STORAGE DISEASE Ib Gene map locus 11q23 (link from NCBI) | ENSP00000350203 | ORTHOMCL6660 | jaccard_535 |
| 232240: OMIM phenotype: GLYCOGEN STORAGE DISEASE Ic GLYCOGEN STORAGE DISEASE Id, INCLUDED Gene map locus 11q23 (link from NCBI) | ENSP00000350203 | ORTHOMCL6660 | jaccard_535 |
| 232300: OMIM phenotype: GLYCOGEN STORAGE DISEASE II Gene map locus 17q25.2-q25.3 (link from NCBI) | ENSP00000305692 | ORTHOMCL648 | jaccard_371 |
| 232400: OMIM gene: GLYCOGEN STORAGE DISEASE III AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE, INCLUDED; AGL, INCLUDED Gene map locus 1p21 (link from Ensembl BioMart) | ENSP00000294724 | ORTHOMCL1766 | jaccard_2425 |
| ENSP00000354971 | ORTHOMCL1766 | jaccard_2425 | |
| ENSP00000355106 | ORTHOMCL1766 | jaccard_2425 | |
| ENSP00000354635 | ORTHOMCL1766 | jaccard_2425 | |
| 232500: OMIM phenotype: GLYCOGEN STORAGE DISEASE IV GSD IV, CLASSIC HEPATIC, INCLUDED Gene map locus 3p12 (link from NCBI) | ENSP00000264326 | ORTHOMCL1556 | jaccard_1690 |
| 232600: OMIM phenotype: GLYCOGEN STORAGE DISEASE V Gene map locus 11q13 (link from NCBI) | ENSP00000164139 | ORTHOMCL1635 | jaccard_1897 |
| 232700: OMIM gene: GLYCOGEN STORAGE DISEASE VI GLYCOGEN PHOSPHORYLASE, LIVER, INCLUDED; PYGL, INCLUDED Gene map locus 14q21-q22 (link from Ensembl BioMart) | ENSP00000216392 | ORTHOMCL1635 | jaccard_1897 |
| 232800: OMIM gene: GLYCOGEN STORAGE DISEASE VII PHOSPHOFRUCTOKINASE, MUSCLE TYPE, INCLUDED; PFKM, INCLUDED Gene map locus 12q13.3 (link from Ensembl BioMart) | ENSP00000345771 | ORTHOMCL204 | jaccard_466 |
| ENSP00000352842 | ORTHOMCL204 | jaccard_466 | |
| 233100: OMIM phenotype: RENAL GLUCOSURIA; GLYS1 Gene map locus 16p11.2, 6p21.3 (link from NCBI) | ENSP00000327943 | ORTHOMCL15278 | jaccard_210 |
| 233300: OMIM phenotype: OVARIAN DYSGENESIS 1; ODG1 Gene map locus 2p21-p16 (link from NCBI) | ENSP00000333908 | jaccard_415 | |
| ENSP00000306780 | ORTHOMCL4624 | jaccard_415 | |
| 233690: OMIM phenotype: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE Gene map locus 16q24 (link from NCBI) | ENSP00000261623 | ORTHOMCL14172 | jaccard_6816 |
| 233700: OMIM phenotype: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I Gene map locus 7q11.23 (link from NCBI) | ENSP00000289473 | ORTHOMCL7590 | jaccard_1052 |
| 233710: OMIM phenotype: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II Gene map locus 1q25 (link from NCBI) | ENSP00000340837 | ORTHOMCL10766 | jaccard_5162 |
| 233910: OMIM phenotype: GTP CYCLOHYDROLASE I DEFICIENCY Gene map locus 14q22.1-q22.2 (link from NCBI) | ENSP00000254299 | ORTHOMCL1714 | jaccard_2083 |
| 234000: OMIM gene: HAGEMAN FACTOR DEFICIENCY COAGULATION FACTOR XII, INCLUDED; F12, INCLUDED Gene map locus 5q33-qter (link from Ensembl BioMart) | ENSP00000253496 | ORTHOMCL25012 | jaccard_10 |
| 234050: OMIM phenotype: TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 Gene map locus 7p14 (link from NCBI) | ENSP00000304553 | ORTHOMCL23538 | |
| 234200: OMIM phenotype: PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN Gene map locus 20p13-p12.3 (link from NCBI) | ENSP00000355197 | ORTHOMCL12084 | jaccard_886 |
| ENSP00000336551 | ORTHOMCL19293 | jaccard_886 | |
| ENSP00000313377 | ORTHOMCL25013 | jaccard_11123 | |
| ENSP00000339290 | ORTHOMCL19293 | jaccard_886 | |
| 234500: OMIM phenotype: HARTNUP DISORDER Gene map locus 5p15 (link from NCBI) | ENSP00000305302 | ||
| 235200: OMIM gene: HEMOCHROMATOSIS; HFE HFE GENE, INCLUDED; HFE, INCLUDED Gene map locus 6p21.3 (link from Ensembl BioMart) | ENSP00000312342 | ||
| ENSP00000259699 | ORTHOMCL7771 | jaccard_64 | |
| ENSP00000311698 | ORTHOMCL7771 | jaccard_64 | |
| ENSP00000337819 | jaccard_64 | ||
| ENSP00000313776 | ORTHOMCL7771 | jaccard_64 | |
| ENSP00000315936 | jaccard_9077 | ||
| 235400: OMIM phenotype: HEMOLYTIC-UREMIC SYNDROME; HUS Gene map locus 1q32 (link from NCBI) | ENSP00000001567 | ORTHOMCL17861 | jaccard_34 |
| 235700: OMIM phenotype: HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA (link from Ensembl BioMart) | ENSP00000352398 | ORTHOMCL206 | jaccard_367 |
| ENSP00000313148 | ORTHOMCL206 | jaccard_367 | |
| 235730: OMIM phenotype: MOWAT-WILSON SYNDROME Gene map locus 2q22 (link from NCBI) | ENSP00000302501 | ORTHOMCL956 | jaccard_1526 |
| 235800: OMIM phenotype: HISTIDINEMIA Gene map locus 12q22-q23 (link from NCBI) | ENSP00000261208 | ORTHOMCL3185 | jaccard_3328 |
| 236200: OMIM gene: HOMOCYSTINURIA CYSTATHIONINE BETA-SYNTHASE, INCLUDED; CBS, INCLUDED Gene map locus 21q22.3 (link from Ensembl BioMart) | ENSP00000352643 | ORTHOMCL291 | jaccard_260 |
| 236250: OMIM phenotype: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED Gene map locus 1p36.3 (link from NCBI) | ENSP00000315965 | ORTHOMCL1967 | jaccard_2225 |
| 236270: OMIM phenotype: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE Gene map locus 5p15.3-p15.2 (link from NCBI) | ENSP00000264668 | ORTHOMCL12105 | jaccard_390 |
| 236490: OMIM phenotype: HYALINOSIS, INFANTILE SYSTEMIC Gene map locus 4q21 (link from NCBI) | ENSP00000306185 | ORTHOMCL11722 | jaccard_1619 |
| 236670: OMIM phenotype: WALKER-WARBURG SYNDROME Gene map locus 19q13.3, 14q24.3, 9q34.1, 9q31 (link from NCBI) | ENSP00000253012 | ORTHOMCL2219 | jaccard_1156 |
| ENSP00000326570 | ORTHOMCL8642 | jaccard_6007 | |
| ENSP00000261534 | ORTHOMCL6360 | jaccard_1156 | |
| ENSP00000319315 | ORTHOMCL10937 | jaccard_6018 | |
| ENSP00000223528 | ORTHOMCL1610 | jaccard_3407 | |
| 236700: OMIM phenotype: MCKUSICK-KAUFMAN SYNDROME; MKKS Gene map locus 20p12 (link from NCBI) | ENSP00000246062 | ORTHOMCL15895 | jaccard_115 |
| 236792: OMIM phenotype: L-2-HYDROXYGLUTARIC ACIDURIA Gene map locus 14q22.1 (link from NCBI) | ENSP00000267436 | ORTHOMCL2474 | jaccard_2198 |
| 236800: OMIM phenotype: HYDROXYKYNURENINURIA (link from Ensembl BioMart) | ENSP00000264170 | ORTHOMCL9924 | jaccard_5010 |
| 237300: OMIM phenotype: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO Gene map locus 2q35 (link from NCBI) | ENSP00000233072 | ORTHOMCL1268 | jaccard_1845 |
| 237310: OMIM phenotype: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY Gene map locus 17q21.31 (link from NCBI) | ENSP00000293404 | ORTHOMCL5229 | jaccard_5342 |
| 237500: OMIM phenotype: DUBIN-JOHNSON SYNDROME; DJS Gene map locus 10q24 (link from NCBI) | ENSP00000266063 | ORTHOMCL102 | jaccard_44 |
| 237900: OMIM phenotype: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL BREASTFEEDING JAUNDICE, INCLUDED Gene map locus 2q37 (link from NCBI) | ENSP00000304845 | ORTHOMCL5247 | jaccard_56 |
| 238310: OMIM gene: AMINOMETHYLTRANSFERASE; AMT Gene map locus 3p21.2-p21.1 (link from Ensembl BioMart) | ENSP00000273588 | ORTHOMCL3842 | jaccard_3005 |
| 238330: OMIM gene: GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH Gene map locus 16q24 (link from Ensembl BioMart) | ENSP00000319531 | ORTHOMCL1787 | jaccard_1736 |
| ENSP00000315716 | ORTHOMCL1787 | jaccard_1736 | |
| 238331: OMIM gene: DIHYDROLIPOAMIDE DEHYDROGENASE; DLD Gene map locus 7q31-q32 (link from Ensembl BioMart) | ENSP00000205402 | ORTHOMCL2761 | jaccard_458 |
| 238600: OMIM phenotype: HYPERLIPOPROTEINEMIA, TYPE I Gene map locus 8p22 (link from Ensembl BioMart) | ENSP00000309757 | ORTHOMCL9359 | jaccard_300 |
| 238700: OMIM phenotype: HYPERLYSINEMIA Gene map locus 7q31.3 (link from NCBI) | ENSP00000351834 | ORTHOMCL3792 | jaccard_4505 |
| 238970: OMIM phenotype: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME Gene map locus 13q14 (link from NCBI) | ENSP00000342267 | ORTHOMCL6732 | jaccard_27 |
| 239000: OMIM phenotype: PAGET DISEASE, JUVENILE Gene map locus 8q24 (link from NCBI) | ENSP00000297350 | ORTHOMCL16794 | jaccard_691 |
| 239100: OMIM phenotype: HYPEROSTOSIS CORTICALIS GENERALISATA Gene map locus 17q12-q21 (link from NCBI) | ENSP00000301691 | ORTHOMCL15420 | jaccard_4715 |
| 239200: OMIM phenotype: HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT Gene map locus 3q13.3-q21 (link from NCBI) | ENSP00000296154 | ORTHOMCL8273 | jaccard_15 |
| 239500: OMIM phenotype: HYPERPROLINEMIA, TYPE I Gene map locus 22q11.2 (link from NCBI) | ENSP00000334726 | ORTHOMCL873 | jaccard_972 |
| 239510: OMIM phenotype: HYPERPROLINEMIA, TYPE II Gene map locus 1p36 (link from NCBI) | ENSP00000336944 | ORTHOMCL2272 | jaccard_88 |
| ENSP00000290597 | ORTHOMCL2272 | jaccard_88 | |
| 240300: OMIM phenotype: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED Gene map locus 21q22.3 (link from NCBI) | ENSP00000291582 | ORTHOMCL19906 | jaccard_4211 |
| ENSP00000337986 | ORTHOMCL915 | jaccard_4211 | |
| 240500: OMIM phenotype: COMMON VARIABLE IMMUNODEFICIENCY; CVID (link from NCBI) | ENSP00000261652 | ORTHOMCL14391 | jaccard_8189 |
| 240600: OMIM phenotype: GLYCOGEN STORAGE DISEASE 0 Gene map locus 12p12.2 (link from NCBI) | ENSP00000261195 | ORTHOMCL1884 | jaccard_2095 |
| 240800: OMIM phenotype: HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Gene map locus 11p15.1 (link from NCBI) | ENSP00000303960 | ORTHOMCL2514 | jaccard_44 |
| 241200: OMIM phenotype: BARTTER SYNDROME, ANTENATAL, TYPE 2 Gene map locus 11q24 (link from NCBI) | ENSP00000316233 | ORTHOMCL2596 | jaccard_224 |
| ENSP00000316136 | ORTHOMCL2596 | jaccard_224 | |
| 241410: OMIM phenotype: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD Gene map locus 1q42-q43 (link from NCBI) | ENSP00000264180 | ORTHOMCL3744 | jaccard_1588 |
| 241500: OMIM phenotype: HYPOPHOSPHATASIA, INFANTILE Gene map locus 1p36.1-p34 (link from NCBI) | ENSP00000343937 | ORTHOMCL730 | jaccard_651 |
| 241510: OMIM phenotype: HYPOPHOSPHATASIA, CHILDHOOD Gene map locus 1p36.1-p34 (link from NCBI) | ENSP00000343937 | ORTHOMCL730 | jaccard_651 |
| 241530: OMIM phenotype: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH Gene map locus 9q34 (link from NCBI) | ENSP00000355353 | ORTHOMCL13967 | jaccard_1899 |