gene_id
stringlengths 1
9
| symbol
stringclasses 1
value | concept_id
stringlengths 3
208
| concept_name
stringlengths 4
405
⌀ | concept_origin
stringclasses 5
values | url
stringlengths 3
48
|
|---|---|---|---|---|---|
1412 | nan | 115900 | CATARACT 42 | OMIM MedGen | https://omim.org/entry/115900 |
1427 | nan | 116100 | null | OMIM MedGen | https://omim.org/entry/116100 |
2703 | nan | 116200 | CATARACT 1, MULTIPLE TYPES | OMIM MedGen | https://omim.org/entry/116200 |
7431 | nan | 116300 | CATARACT 30, MULTIPLE TYPES | OMIM MedGen | https://omim.org/entry/116300 |
7466 | nan | 116400 | CATARACT 41 | OMIM MedGen | https://omim.org/entry/116400 |
1969 | nan | 116600 | CATARACT 6, MULTIPLE TYPES | OMIM MedGen | https://omim.org/entry/116600 |
2651 | nan | 116700 | CATARACT 13 WITH ADULT i PHENOTYPE | OMIM MedGen | https://omim.org/entry/116700 |
3299 | nan | 116800 | CATARACT 5, MULTIPLE TYPES | OMIM MedGen | https://omim.org/entry/116800 |
889 | nan | 116860 | CEREBRAL CAVERNOUS MALFORMATIONS | OMIM MedGen | https://omim.org/entry/116860 |
3689 | nan | 116920 | LEUKOCYTE ADHESION DEFICIENCY, TYPE I | OMIM MedGen | https://omim.org/entry/116920 |
6261 | nan | 117000 | CENTRAL CORE DISEASE OF MUSCLE | OMIM MedGen | https://omim.org/entry/117000 |
146227 | nan | 117210 | SPINOCEREBELLAR ATAXIA 31 | OMIM MedGen | https://omim.org/entry/117210 |
9445 | nan | 117300 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 | OMIM MedGen | https://omim.org/entry/117300 |
3708 | nan | 117360 | SPINOCEREBELLAR ATAXIA 29 | OMIM MedGen | https://omim.org/entry/117360 |
64324 | nan | 117550 | SOTOS SYNDROME | OMIM MedGen | https://omim.org/entry/117550 |
6628 | nan | 117650 | CEREBROCOSTOMANDIBULAR SYNDROME | OMIM MedGen | https://omim.org/entry/117650 |
85320 | nan | 117800 | APOCRINE GLAND SECRETION, VARIATION IN | OMIM MedGen | https://omim.org/entry/117800 |
392255 | nan | 118100 | KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/118100 |
4359 | nan | 118200 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B | OMIM MedGen | https://omim.org/entry/118200 |
23095 | nan | 118210 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 | OMIM MedGen | https://omim.org/entry/118210 |
5376 | nan | 118220 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A | OMIM MedGen | https://omim.org/entry/118220 |
5376 | nan | 118300 | CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS | OMIM MedGen | https://omim.org/entry/118300 |
6452 | nan | 118400 | CHERUBISM | OMIM MedGen | https://omim.org/entry/118400 |
182 | nan | 118450 | ALAGILLE SYNDROME 1 | OMIM MedGen | https://omim.org/entry/118450 |
56172 | nan | 118600 | CHONDROCALCINOSIS 2 | OMIM MedGen | https://omim.org/entry/118600 |
7080 | nan | 118700 | CHOREA, BENIGN HEREDITARY | OMIM MedGen | https://omim.org/entry/118700 |
25953 | nan | 118800 | PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 | OMIM MedGen | https://omim.org/entry/118800 |
3664 | nan | 119300 | VAN DER WOUDE SYNDROME 1 | OMIM MedGen | https://omim.org/entry/119300 |
3664 | nan | 119500 | POPLITEAL PTERYGIUM SYNDROME | OMIM MedGen | https://omim.org/entry/119500 |
999 | nan | 119580 | BLEPHAROCHEILODONTIC SYNDROME 1 | OMIM MedGen | https://omim.org/entry/119580 |
860 | nan | 119600 | CLEIDOCRANIAL DYSPLASIA 1 | OMIM MedGen | https://omim.org/entry/119600 |
5307 | nan | 119800 | null | OMIM MedGen | https://omim.org/entry/119800 |
3248 | nan | 119900 | DIGITAL CLUBBING, ISOLATED CONGENITAL | OMIM MedGen | https://omim.org/entry/119900 |
5243 | nan | 120080 | null | OMIM MedGen | https://omim.org/entry/120080 |
114548 | nan | 120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | OMIM MedGen | https://omim.org/entry/120100 |
5080 | nan | 120200 | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/120200 |
5076 | nan | 120330 | PAPILLORENAL SYNDROME | OMIM MedGen | https://omim.org/entry/120330 |
5080 | nan | 120430 | COLOBOMA OF OPTIC NERVE | OMIM MedGen | https://omim.org/entry/120430 |
10413 | nan | 120433 | COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT | OMIM MedGen | https://omim.org/entry/120433 |
5378 | nan | 120435 | LYNCH SYNDROME 1 | OMIM MedGen | https://omim.org/entry/120435 |
4436 | nan | 120435 | LYNCH SYNDROME 1 | OMIM MedGen | https://omim.org/entry/120435 |
710 | nan | 120790 | COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF | OMIM MedGen | https://omim.org/entry/120790 |
1406 | nan | 120970 | CONE-ROD DYSTROPHY 2 | OMIM MedGen | https://omim.org/entry/120970 |
2201 | nan | 121050 | CONTRACTURAL ARACHNODACTYLY, CONGENITAL | OMIM MedGen | https://omim.org/entry/121050 |
3785 | nan | 121200 | SEIZURES, BENIGN FAMILIAL NEONATAL, 1 | OMIM MedGen | https://omim.org/entry/121200 |
3786 | nan | 121201 | SEIZURES, BENIGN FAMILIAL NEONATAL, 2 | OMIM MedGen | https://omim.org/entry/121201 |
1371 | nan | 121300 | COPROPORPHYRIA, HEREDITARY | OMIM MedGen | https://omim.org/entry/121300 |
29914 | nan | 121800 | SCHNYDER CORNEAL DYSTROPHY | OMIM MedGen | https://omim.org/entry/121800 |
7045 | nan | 121820 | CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE | OMIM MedGen | https://omim.org/entry/121820 |
200576 | nan | 121850 | CORNEAL DYSTROPHY, FLECK | OMIM MedGen | https://omim.org/entry/121850 |
7045 | nan | 121900 | CORNEAL DYSTROPHY, GROENOUW TYPE I | OMIM MedGen | https://omim.org/entry/121900 |
58495 | nan | 122000 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 | OMIM MedGen | https://omim.org/entry/122000 |
3859 | nan | 122100 | CORNEAL DYSTROPHY, MEESMANN, 1 | OMIM MedGen | https://omim.org/entry/122100 |
7045 | nan | 122200 | CORNEAL DYSTROPHY, LATTICE TYPE I | OMIM MedGen | https://omim.org/entry/122200 |
1308 | nan | 122400 | EPITHELIAL RECURRENT EROSION DYSTROPHY | OMIM MedGen | https://omim.org/entry/122400 |
25836 | nan | 122470 | CORNELIA DE LANGE SYNDROME 1 | OMIM MedGen | https://omim.org/entry/122470 |
6911 | nan | 122600 | SPONDYLOCOSTAL DYSOSTOSIS 5 | OMIM MedGen | https://omim.org/entry/122600 |
1559 | nan | 122700 | COUMARIN RESISTANCE | OMIM MedGen | https://omim.org/entry/122700 |
79001 | nan | 122700 | COUMARIN RESISTANCE | OMIM MedGen | https://omim.org/entry/122700 |
1548 | nan | 122700 | COUMARIN RESISTANCE | OMIM MedGen | https://omim.org/entry/122700 |
50964 | nan | 122860 | CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/122860 |
5077 | nan | 122880 | CRANIOFACIAL-DEAFNESS-HAND SYNDROME | OMIM MedGen | https://omim.org/entry/122880 |
56172 | nan | 123000 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/123000 |
7291 | nan | 123100 | CRANIOSYNOSTOSIS 1 | OMIM MedGen | https://omim.org/entry/123100 |
2260 | nan | 123150 | JACKSON-WEISS SYNDROME | OMIM MedGen | https://omim.org/entry/123150 |
2263 | nan | 123150 | JACKSON-WEISS SYNDROME | OMIM MedGen | https://omim.org/entry/123150 |
859 | nan | 123320 | CREATINE PHOSPHOKINASE, ELEVATED SERUM | OMIM MedGen | https://omim.org/entry/123320 |
5621 | nan | 123400 | CREUTZFELDT-JAKOB DISEASE | OMIM MedGen | https://omim.org/entry/123400 |
3119 | nan | 123400 | CREUTZFELDT-JAKOB DISEASE | OMIM MedGen | https://omim.org/entry/123400 |
2263 | nan | 123500 | CROUZON SYNDROME | OMIM MedGen | https://omim.org/entry/123500 |
341640 | nan | 123570 | CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED | OMIM MedGen | https://omim.org/entry/123570 |
2006 | nan | 123700 | CUTIS LAXA, AUTOSOMAL DOMINANT 1 | OMIM MedGen | https://omim.org/entry/123700 |
2263 | nan | 123790 | BEARE-STEVENSON CUTIS GYRATA SYNDROME | OMIM MedGen | https://omim.org/entry/123790 |
617 | nan | 124000 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 | OMIM MedGen | https://omim.org/entry/124000 |
488 | nan | 124200 | DARIER-WHITE DISEASE | OMIM MedGen | https://omim.org/entry/124200 |
526 | nan | 124480 | DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/124480 |
2706 | nan | 124500 | VOHWINKEL SYNDROME | OMIM MedGen | https://omim.org/entry/124500 |
1729 | nan | 124900 | DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | OMIM MedGen | https://omim.org/entry/124900 |
4976 | nan | 125250 | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | OMIM MedGen | https://omim.org/entry/125250 |
4854 | nan | 125310 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 | OMIM MedGen | https://omim.org/entry/125310 |
5745 | nan | 125350 | FAILURE OF TOOTH ERUPTION, PRIMARY | OMIM MedGen | https://omim.org/entry/125350 |
1822 | nan | 125370 | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | OMIM MedGen | https://omim.org/entry/125370 |
64094 | nan | 125400 | DENTIN DYSPLASIA, TYPE I | OMIM MedGen | https://omim.org/entry/125400 |
1834 | nan | 125420 | DENTIN DYSPLASIA, TYPE II | OMIM MedGen | https://omim.org/entry/125420 |
1834 | nan | 125490 | DENTINOGENESIS IMPERFECTA 1 | OMIM MedGen | https://omim.org/entry/125490 |
1834 | nan | 125500 | DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III | OMIM MedGen | https://omim.org/entry/125500 |
3861 | nan | 125595 | DERMATOPATHIA PIGMENTOSA RETICULARIS | OMIM MedGen | https://omim.org/entry/125595 |
30817 | nan | 125630 | VIBRATORY URTICARIA | OMIM MedGen | https://omim.org/entry/125630 |
551 | nan | 125700 | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL | OMIM MedGen | https://omim.org/entry/125700 |
359 | nan | 125800 | DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL | OMIM MedGen | https://omim.org/entry/125800 |
3172 | nan | 125850 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 | OMIM MedGen | https://omim.org/entry/125850 |
2645 | nan | 125851 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 | OMIM MedGen | https://omim.org/entry/125851 |
3630 | nan | 125852 | TYPE 1 DIABETES MELLITUS 2 | OMIM MedGen | https://omim.org/entry/125852 |
169026 | nan | 125853 | TYPE 2 DIABETES MELLITUS | OMIM MedGen | https://omim.org/entry/125853 |
4544 | nan | 125853 | TYPE 2 DIABETES MELLITUS | OMIM MedGen | https://omim.org/entry/125853 |
5506 | nan | 125853 | TYPE 2 DIABETES MELLITUS | OMIM MedGen | https://omim.org/entry/125853 |
3651 | nan | 125853 | TYPE 2 DIABETES MELLITUS | OMIM MedGen | https://omim.org/entry/125853 |
2820 | nan | 125853 | TYPE 2 DIABETES MELLITUS | OMIM MedGen | https://omim.org/entry/125853 |
9479 | nan | 125853 | TYPE 2 DIABETES MELLITUS | OMIM MedGen | https://omim.org/entry/125853 |
5770 | nan | 125853 | TYPE 2 DIABETES MELLITUS | OMIM MedGen | https://omim.org/entry/125853 |
Subsets and Splits