Dataset Viewer
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
|
|---|---|---|---|---|---|
1131 | nan | 100100 | PRUNE BELLY SYNDROME | OMIM MedGen | https://omim.org/entry/100100 |
57514 | nan | 100300 | ADAMS-OLIVER SYNDROME 1 | OMIM MedGen | https://omim.org/entry/100300 |
2261 | nan | 100800 | ACHONDROPLASIA | OMIM MedGen | https://omim.org/entry/100800 |
4771 | nan | 101000 | NEUROFIBROMATOSIS, TYPE II | OMIM MedGen | https://omim.org/entry/101000 |
2263 | nan | 101200 | APERT SYNDROME | OMIM MedGen | https://omim.org/entry/101200 |
2263 | nan | 101400 | SAETHRE-CHOTZEN SYNDROME | OMIM MedGen | https://omim.org/entry/101400 |
7291 | nan | 101400 | SAETHRE-CHOTZEN SYNDROME | OMIM MedGen | https://omim.org/entry/101400 |
2260 | nan | 101600 | PFEIFFER SYNDROME | OMIM MedGen | https://omim.org/entry/101600 |
2263 | nan | 101600 | PFEIFFER SYNDROME | OMIM MedGen | https://omim.org/entry/101600 |
5573 | nan | 101800 | ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | OMIM MedGen | https://omim.org/entry/101800 |
488 | nan | 101900 | ACROKERATOSIS VERRUCIFORMIS | OMIM MedGen | https://omim.org/entry/101900 |
9049 | nan | 102200 | PITUITARY ADENOMA 1, MULTIPLE TYPES | OMIM MedGen | https://omim.org/entry/102200 |
2200 | nan | 102370 | ACROMICRIC DYSPLASIA | OMIM MedGen | https://omim.org/entry/102370 |
4853 | nan | 102500 | HAJDU-CHENEY SYNDROME | OMIM MedGen | https://omim.org/entry/102500 |
83893 | nan | 102530 | SPERMATOGENIC FAILURE 6 | OMIM MedGen | https://omim.org/entry/102530 |
100 | nan | 102700 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | OMIM MedGen | https://omim.org/entry/102700 |
5313 | nan | 102900 | ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES | OMIM MedGen | https://omim.org/entry/102900 |
158 | nan | 103050 | ADENYLOSUCCINASE DEFICIENCY | OMIM MedGen | https://omim.org/entry/103050 |
8626 | nan | 103285 | ADULT SYNDROME | OMIM MedGen | https://omim.org/entry/103285 |
4286 | nan | 103500 | TIETZ ALBINISM-DEAFNESS SYNDROME | OMIM MedGen | https://omim.org/entry/103500 |
2778 | nan | 103580 | PSEUDOHYPOPARATHYROIDISM, TYPE IA | OMIM MedGen | https://omim.org/entry/103580 |
50833 | nan | 103780 | ALCOHOL DEPENDENCE | OMIM MedGen | https://omim.org/entry/103780 |
2555 | nan | 103780 | ALCOHOL DEPENDENCE | OMIM MedGen | https://omim.org/entry/103780 |
3356 | nan | 103780 | ALCOHOL DEPENDENCE | OMIM MedGen | https://omim.org/entry/103780 |
125 | nan | 103780 | ALCOHOL DEPENDENCE | OMIM MedGen | https://omim.org/entry/103780 |
126 | nan | 103780 | ALCOHOL DEPENDENCE | OMIM MedGen | https://omim.org/entry/103780 |
1584 | nan | 103900 | HYPERALDOSTERONISM, FAMILIAL, TYPE I | OMIM MedGen | https://omim.org/entry/103900 |
2697 | nan | 104100 | PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 | OMIM MedGen | https://omim.org/entry/104100 |
1285 | nan | 104200 | ALPORT SYNDROME 3, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/104200 |
477 | nan | 104290 | ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 | OMIM MedGen | https://omim.org/entry/104290 |
5328 | nan | 104300 | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/104300 |
4353 | nan | 104300 | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/104300 |
4846 | nan | 104300 | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/104300 |
351 | nan | 104300 | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/104300 |
348 | nan | 104310 | ALZHEIMER DISEASE 2 | OMIM MedGen | https://omim.org/entry/104310 |
10117 | nan | 104500 | AMELOGENESIS IMPERFECTA, TYPE IB | OMIM MedGen | https://omim.org/entry/104500 |
1747 | nan | 104510 | AMELOGENESIS IMPERFECTA, TYPE IV | OMIM MedGen | https://omim.org/entry/104510 |
3914 | nan | 104530 | AMELOGENESIS IMPERFECTA, TYPE IA | OMIM MedGen | https://omim.org/entry/104530 |
2934 | nan | 105120 | AMYLOIDOSIS, FINNISH TYPE | OMIM MedGen | https://omim.org/entry/105120 |
1471 | nan | 105150 | CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED | OMIM MedGen | https://omim.org/entry/105150 |
2243 | nan | 105200 | AMYLOIDOSIS, FAMILIAL VISCERAL | OMIM MedGen | https://omim.org/entry/105200 |
4069 | nan | 105200 | AMYLOIDOSIS, FAMILIAL VISCERAL | OMIM MedGen | https://omim.org/entry/105200 |
567 | nan | 105200 | AMYLOIDOSIS, FAMILIAL VISCERAL | OMIM MedGen | https://omim.org/entry/105200 |
335 | nan | 105200 | AMYLOIDOSIS, FAMILIAL VISCERAL | OMIM MedGen | https://omim.org/entry/105200 |
7276 | nan | 105210 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | OMIM MedGen | https://omim.org/entry/105210 |
9180 | nan | 105250 | AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 | OMIM MedGen | https://omim.org/entry/105250 |
1639 | nan | 105400 | AMYOTROPHIC LATERAL SCLEROSIS 1 | OMIM MedGen | https://omim.org/entry/105400 |
6647 | nan | 105400 | AMYOTROPHIC LATERAL SCLEROSIS 1 | OMIM MedGen | https://omim.org/entry/105400 |
4744 | nan | 105400 | AMYOTROPHIC LATERAL SCLEROSIS 1 | OMIM MedGen | https://omim.org/entry/105400 |
5630 | nan | 105400 | AMYOTROPHIC LATERAL SCLEROSIS 1 | OMIM MedGen | https://omim.org/entry/105400 |
54822 | nan | 105500 | AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 | OMIM MedGen | https://omim.org/entry/105500 |
203228 | nan | 105550 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 | OMIM MedGen | https://omim.org/entry/105550 |
9493 | nan | 105600 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa | OMIM MedGen | https://omim.org/entry/105600 |
6223 | nan | 105650 | DIAMOND-BLACKFAN ANEMIA 1 | OMIM MedGen | https://omim.org/entry/105650 |
7337 | nan | 105830 | ANGELMAN SYNDROME | OMIM MedGen | https://omim.org/entry/105830 |
6638 | nan | 105830 | ANGELMAN SYNDROME | OMIM MedGen | https://omim.org/entry/105830 |
710 | nan | 106100 | ANGIOEDEMA, HEREDITARY, 1 | OMIM MedGen | https://omim.org/entry/106100 |
3709 | nan | 106190 | ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS | OMIM MedGen | https://omim.org/entry/106190 |
7490 | nan | 106210 | ANIRIDIA 1 | OMIM MedGen | https://omim.org/entry/106210 |
5080 | nan | 106210 | ANIRIDIA 1 | OMIM MedGen | https://omim.org/entry/106210 |
8626 | nan | 106260 | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | OMIM MedGen | https://omim.org/entry/106260 |
3106 | nan | 106300 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 | OMIM MedGen | https://omim.org/entry/106300 |
4487 | nan | 106600 | TOOTH AGENESIS, SELECTIVE, 1 | OMIM MedGen | https://omim.org/entry/106600 |
5309 | nan | 107250 | ANTERIOR SEGMENT DYSGENESIS 1 | OMIM MedGen | https://omim.org/entry/107250 |
6299 | nan | 107480 | TOWNES-BROCKS SYNDROME 1 | OMIM MedGen | https://omim.org/entry/107480 |
9790 | nan | 107600 | APLASIA CUTIS CONGENITA, NONSYNDROMIC | OMIM MedGen | https://omim.org/entry/107600 |
7043 | nan | 107970 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 | OMIM MedGen | https://omim.org/entry/107970 |
3569 | nan | 108010 | ARTERIOVENOUS MALFORMATIONS OF THE BRAIN | OMIM MedGen | https://omim.org/entry/108010 |
3845 | nan | 108010 | ARTERIOVENOUS MALFORMATIONS OF THE BRAIN | OMIM MedGen | https://omim.org/entry/108010 |
7169 | nan | 108120 | ARTHROGRYPOSIS, DISTAL, TYPE 1A | OMIM MedGen | https://omim.org/entry/108120 |
63895 | nan | 108145 | ARTHROGRYPOSIS, DISTAL, TYPE 5 | OMIM MedGen | https://omim.org/entry/108145 |
1280 | nan | 108300 | STICKLER SYNDROME, TYPE I | OMIM MedGen | https://omim.org/entry/108300 |
4438 | nan | 108420 | SPERMATOGENIC FAILURE 2 | OMIM MedGen | https://omim.org/entry/108420 |
773 | nan | 108500 | EPISODIC ATAXIA, TYPE 2 | OMIM MedGen | https://omim.org/entry/108500 |
6843 | nan | 108600 | SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT | OMIM MedGen | https://omim.org/entry/108600 |
2317 | nan | 108720 | ATELOSTEOGENESIS, TYPE I | OMIM MedGen | https://omim.org/entry/108720 |
2317 | nan | 108721 | ATELOSTEOGENESIS, TYPE III | OMIM MedGen | https://omim.org/entry/108721 |
2702 | nan | 108770 | ATRIAL STANDSTILL 1 | OMIM MedGen | https://omim.org/entry/108770 |
1482 | nan | 108900 | ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS | OMIM MedGen | https://omim.org/entry/108900 |
7003 | nan | 108985 | SVEINSSON CHORIORETINAL ATROPHY | OMIM MedGen | https://omim.org/entry/108985 |
4287 | nan | 109150 | MACHADO-JOSEPH DISEASE | OMIM MedGen | https://omim.org/entry/109150 |
5727 | nan | 109400 | BASAL CELL NEVUS SYNDROME | OMIM MedGen | https://omim.org/entry/109400 |
4851 | nan | 109730 | AORTIC VALVE DISEASE 1 | OMIM MedGen | https://omim.org/entry/109730 |
3265 | nan | 109800 | BLADDER CANCER | OMIM MedGen | https://omim.org/entry/109800 |
2261 | nan | 109800 | BLADDER CANCER | OMIM MedGen | https://omim.org/entry/109800 |
3845 | nan | 109800 | BLADDER CANCER | OMIM MedGen | https://omim.org/entry/109800 |
5925 | nan | 109800 | BLADDER CANCER | OMIM MedGen | https://omim.org/entry/109800 |
668 | nan | 110100 | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS | OMIM MedGen | https://omim.org/entry/110100 |
358 | nan | 110450 | null | OMIM MedGen | https://omim.org/entry/110450 |
6521 | nan | 110500 | null | OMIM MedGen | https://omim.org/entry/110500 |
2532 | nan | 110700 | BLOOD GROUP, DUFFY SYSTEM | OMIM MedGen | https://omim.org/entry/110700 |
2651 | nan | 110800 | BLOOD GROUP, I SYSTEM | OMIM MedGen | https://omim.org/entry/110800 |
3792 | nan | 110900 | null | OMIM MedGen | https://omim.org/entry/110900 |
6563 | nan | 111000 | null | OMIM MedGen | https://omim.org/entry/111000 |
10661 | nan | 111150 | BLOOD GROUP--LUTHERAN INHIBITOR | OMIM MedGen | https://omim.org/entry/111150 |
4059 | nan | 111200 | null | OMIM MedGen | https://omim.org/entry/111200 |
3386 | nan | 111250 | null | OMIM MedGen | https://omim.org/entry/111250 |
2993 | nan | 111300 | null | OMIM MedGen | https://omim.org/entry/111300 |
682 | nan | 111380 | null | OMIM MedGen | https://omim.org/entry/111380 |
8706 | nan | 111400 | null | OMIM MedGen | https://omim.org/entry/111400 |
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