gene_id
stringlengths 1
9
| symbol
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value | concept_id
stringlengths 3
208
| concept_name
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405
⌀ | concept_origin
stringclasses 5
values | url
stringlengths 3
48
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|---|---|---|---|---|---|
4210 | nan | 134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/134610 |
90 | nan | 135100 | FIBRODYSPLASIA OSSIFICANS PROGRESSIVA | OMIM MedGen | https://omim.org/entry/135100 |
201163 | nan | 135150 | BIRT-HOGG-DUBE SYNDROME | OMIM MedGen | https://omim.org/entry/135150 |
324 | nan | 135290 | DESMOID DISEASE, HEREDITARY | OMIM MedGen | https://omim.org/entry/135290 |
6654 | nan | 135300 | FIBROMATOSIS, GINGIVAL, 1 | OMIM MedGen | https://omim.org/entry/135300 |
23461 | nan | 135400 | HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA | OMIM MedGen | https://omim.org/entry/135400 |
3756 | nan | 135500 | ZIMMERMANN-LABAND SYNDROME 1 | OMIM MedGen | https://omim.org/entry/135500 |
55605 | nan | 135700 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 | OMIM MedGen | https://omim.org/entry/135700 |
64327 | nan | 135750 | LAURIN-SANDROW SYNDROME | OMIM MedGen | https://omim.org/entry/135750 |
57492 | nan | 135900 | COFFIN-SIRIS SYNDROME 1 | OMIM MedGen | https://omim.org/entry/135900 |
56916 | nan | 136000 | ADERMATOGLYPHIA | OMIM MedGen | https://omim.org/entry/136000 |
3931 | nan | 136120 | FISH-EYE DISEASE | OMIM MedGen | https://omim.org/entry/136120 |
10847 | nan | 136140 | FLOATING-HARBOR SYNDROME | OMIM MedGen | https://omim.org/entry/136140 |
5080 | nan | 136520 | FOVEAL HYPOPLASIA 1 | OMIM MedGen | https://omim.org/entry/136520 |
111365204 | nan | 136550 | MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE | OMIM MedGen | https://omim.org/entry/136550 |
2464 | nan | 136570 | CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB | OMIM MedGen | https://omim.org/entry/136570 |
57609 | nan | 136630 | INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE | OMIM MedGen | https://omim.org/entry/136630 |
7490 | nan | 136680 | FRASIER SYNDROME | OMIM MedGen | https://omim.org/entry/136680 |
257 | nan | 136760 | FRONTONASAL DYSPLASIA 1 | OMIM MedGen | https://omim.org/entry/136760 |
1296 | nan | 136800 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 | OMIM MedGen | https://omim.org/entry/136800 |
6017 | nan | 136880 | FUNDUS ALBIPUNCTATUS | OMIM MedGen | https://omim.org/entry/136880 |
5959 | nan | 136880 | FUNDUS ALBIPUNCTATUS | OMIM MedGen | https://omim.org/entry/136880 |
5961 | nan | 136880 | FUNDUS ALBIPUNCTATUS | OMIM MedGen | https://omim.org/entry/136880 |
6010 | nan | 136880 | FUNDUS ALBIPUNCTATUS | OMIM MedGen | https://omim.org/entry/136880 |
7078 | nan | 136900 | SORSBY FUNDUS DYSTROPHY | OMIM MedGen | https://omim.org/entry/136900 |
3094 | nan | 137200 | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE | OMIM MedGen | https://omim.org/entry/137200 |
999 | nan | 137215 | DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME | OMIM MedGen | https://omim.org/entry/137215 |
8915 | nan | 137245 | LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE | OMIM MedGen | https://omim.org/entry/137245 |
5621 | nan | 137440 | GERSTMANN-STRAUSSLER DISEASE | OMIM MedGen | https://omim.org/entry/137440 |
3265 | nan | 137550 | MELANOCYTIC NEVUS SYNDROME, CONGENITAL | OMIM MedGen | https://omim.org/entry/137550 |
4893 | nan | 137550 | MELANOCYTIC NEVUS SYNDROME, CONGENITAL | OMIM MedGen | https://omim.org/entry/137550 |
3067 | nan | 137580 | GILLES DE LA TOURETTE SYNDROME | OMIM MedGen | https://omim.org/entry/137580 |
114798 | nan | 137580 | GILLES DE LA TOURETTE SYNDROME | OMIM MedGen | https://omim.org/entry/137580 |
5308 | nan | 137600 | ANTERIOR SEGMENT DYSGENESIS 4 | OMIM MedGen | https://omim.org/entry/137600 |
4653 | nan | 137750 | GLAUCOMA 1, OPEN ANGLE, A | OMIM MedGen | https://omim.org/entry/137750 |
10133 | nan | 137760 | GLAUCOMA, PRIMARY OPEN ANGLE | OMIM MedGen | https://omim.org/entry/137760 |
2064 | nan | 137800 | GLIOMA SUSCEPTIBILITY 1 | OMIM MedGen | https://omim.org/entry/137800 |
7157 | nan | 137800 | GLIOMA SUSCEPTIBILITY 1 | OMIM MedGen | https://omim.org/entry/137800 |
3417 | nan | 137800 | GLIOMA SUSCEPTIBILITY 1 | OMIM MedGen | https://omim.org/entry/137800 |
6928 | nan | 137920 | RENAL CYSTS AND DIABETES SYNDROME | OMIM MedGen | https://omim.org/entry/137920 |
54345 | nan | 137940 | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME | OMIM MedGen | https://omim.org/entry/137940 |
11146 | nan | 138000 | GLOMUVENOUS MALFORMATIONS | OMIM MedGen | https://omim.org/entry/138000 |
153201 | nan | 138500 | HYPERGLYCINURIA | OMIM MedGen | https://omim.org/entry/138500 |
23405 | nan | 138800 | GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS | OMIM MedGen | https://omim.org/entry/138800 |
9429 | nan | 138900 | null | OMIM MedGen | https://omim.org/entry/138900 |
23218 | nan | 139090 | GRAY PLATELET SYNDROME | OMIM MedGen | https://omim.org/entry/139090 |
4089 | nan | 139210 | MYHRE SYNDROME | OMIM MedGen | https://omim.org/entry/139210 |
1588 | nan | 139300 | AROMATASE EXCESS SYNDROME | OMIM MedGen | https://omim.org/entry/139300 |
5376 | nan | 139393 | GUILLAIN-BARRE SYNDROME, FAMILIAL | OMIM MedGen | https://omim.org/entry/139393 |
3209 | nan | 140000 | HAND-FOOT-GENITAL SYNDROME | OMIM MedGen | https://omim.org/entry/140000 |
1493 | nan | 140300 | HASHIMOTO THYROIDITIS | OMIM MedGen | https://omim.org/entry/140300 |
3242 | nan | 140350 | HAWKINSINURIA | OMIM MedGen | https://omim.org/entry/140350 |
4148 | nan | 140600 | OSTEOARTHRITIS SUSCEPTIBILITY 2 | OMIM MedGen | https://omim.org/entry/140600 |
3040 | nan | 140700 | HEINZ BODY ANEMIAS | OMIM MedGen | https://omim.org/entry/140700 |
3043 | nan | 140700 | HEINZ BODY ANEMIAS | OMIM MedGen | https://omim.org/entry/140700 |
3039 | nan | 140700 | HEINZ BODY ANEMIAS | OMIM MedGen | https://omim.org/entry/140700 |
1286 | nan | 141200 | HEMATURIA, BENIGN FAMILIAL | OMIM MedGen | https://omim.org/entry/141200 |
773 | nan | 141500 | MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | OMIM MedGen | https://omim.org/entry/141500 |
3043 | nan | 141749 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 | OMIM MedGen | https://omim.org/entry/141749 |
3047 | nan | 141749 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 | OMIM MedGen | https://omim.org/entry/141749 |
3048 | nan | 141749 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 | OMIM MedGen | https://omim.org/entry/141749 |
6927 | nan | 142330 | HEPATIC ADENOMAS, FAMILIAL | OMIM MedGen | https://omim.org/entry/142330 |
5979 | nan | 142623 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM MedGen | https://omim.org/entry/142623 |
55325 | nan | 142669 | BEUKES HIP DYSPLASIA | OMIM MedGen | https://omim.org/entry/142669 |
7132 | nan | 142680 | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/142680 |
23385 | nan | 142690 | ACNE INVERSA, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/142690 |
6910 | nan | 142900 | HOLT-ORAM SYNDROME | OMIM MedGen | https://omim.org/entry/142900 |
6469 | nan | 142945 | HOLOPROSENCEPHALY 3 | OMIM MedGen | https://omim.org/entry/142945 |
7050 | nan | 142946 | HOLOPROSENCEPHALY 4 | OMIM MedGen | https://omim.org/entry/142946 |
9469 | nan | 143095 | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS | OMIM MedGen | https://omim.org/entry/143095 |
3064 | nan | 143100 | HUNTINGTON DISEASE | OMIM MedGen | https://omim.org/entry/143100 |
1462 | nan | 143200 | WAGNER VITREORETINOPATHY | OMIM MedGen | https://omim.org/entry/143200 |
9096 | nan | 143400 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 | OMIM MedGen | https://omim.org/entry/143400 |
1815 | nan | 143465 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | OMIM MedGen | https://omim.org/entry/143465 |
1816 | nan | 143465 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | OMIM MedGen | https://omim.org/entry/143465 |
1071 | nan | 143470 | HYPERALPHALIPOPROTEINEMIA 1 | OMIM MedGen | https://omim.org/entry/143470 |
54658 | nan | 143500 | GILBERT SYNDROME | OMIM MedGen | https://omim.org/entry/143500 |
771 | nan | 143860 | HYPERCHLORHIDROSIS, ISOLATED | OMIM MedGen | https://omim.org/entry/143860 |
55811 | nan | 143870 | HYPERCALCIURIA, ABSORPTIVE, 2 | OMIM MedGen | https://omim.org/entry/143870 |
1591 | nan | 143880 | HYPERCALCEMIA, INFANTILE, 1 | OMIM MedGen | https://omim.org/entry/143880 |
336 | nan | 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/143890 |
2690 | nan | 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/143890 |
2053 | nan | 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/143890 |
10842 | nan | 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/143890 |
3949 | nan | 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/143890 |
338 | nan | 144010 | HYPERCHOLESTEROLEMIA, FAMILIAL, 2 | OMIM MedGen | https://omim.org/entry/144010 |
3857 | nan | 144200 | PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC | OMIM MedGen | https://omim.org/entry/144200 |
4023 | nan | 144250 | HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 | OMIM MedGen | https://omim.org/entry/144250 |
116519 | nan | 144650 | HYPERLIPOPROTEINEMIA, TYPE V | OMIM MedGen | https://omim.org/entry/144650 |
6928 | nan | 144700 | RENAL CELL CARCINOMA, NONPAPILLARY | OMIM MedGen | https://omim.org/entry/144700 |
11236 | nan | 144700 | RENAL CELL CARCINOMA, NONPAPILLARY | OMIM MedGen | https://omim.org/entry/144700 |
7428 | nan | 144700 | RENAL CELL CARCINOMA, NONPAPILLARY | OMIM MedGen | https://omim.org/entry/144700 |
201163 | nan | 144700 | RENAL CELL CARCINOMA, NONPAPILLARY | OMIM MedGen | https://omim.org/entry/144700 |
4968 | nan | 144700 | RENAL CELL CARCINOMA, NONPAPILLARY | OMIM MedGen | https://omim.org/entry/144700 |
55193 | nan | 144700 | RENAL CELL CARCINOMA, NONPAPILLARY | OMIM MedGen | https://omim.org/entry/144700 |
6927 | nan | 144700 | RENAL CELL CARCINOMA, NONPAPILLARY | OMIM MedGen | https://omim.org/entry/144700 |
4041 | nan | 144750 | ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/144750 |
23516 | nan | 144755 | HYPEROSTOSIS CRANIALIS INTERNA | OMIM MedGen | https://omim.org/entry/144755 |
79577 | nan | 145000 | HYPERPARATHYROIDISM 1 | OMIM MedGen | https://omim.org/entry/145000 |
79577 | nan | 145001 | HYPERPARATHYROIDISM 2 WITH JAW TUMORS | OMIM MedGen | https://omim.org/entry/145001 |
Subsets and Splits