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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