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Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser
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Gene
Disease
Score
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TBX1
(HGNC:11592)
conotruncal heart malformations
(MONDO_0016581)
Moderate
TBX1
(HGNC:11592)
velocardiofacial syndrome
(MONDO_0008644)
Strong
TBP
(HGNC:11588)
spinocerebellar ataxia type 17
(MONDO_0011781)
Definitive
TBK1
(HGNC:11584)
frontotemporal dementia with motor neuron disease
(MONDO_0017161)
Strong
TBCE
(HGNC:11582)
autosomal recessive Kenny-Caffey syndrome
(MONDO_0009486)
Strong
TBCE
(HGNC:11582)
hypoparathyroidism-retardation-dysmorphism syndrome
(MONDO_0009426)
Definitive
TBC1D1
(HGNC:11578)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
Moderate
TARDBP
(HGNC:11571)
inclusion body myositis
(MONDO_0007827)
Disputed
TARDBP
(HGNC:11571)
amyotrophic lateral sclerosis
(MONDO_0004976)
Definitive
BRF1
(HGNC:11551)
cerebellar-facial-dental syndrome
(MONDO_0014529)
Strong
TAF15
(HGNC:11547)
amyotrophic lateral sclerosis
(MONDO_0004976)
Limited
TAF6
(HGNC:11540)
Alazami-Yuan syndrome
(MONDO_0014931)
Limited
TAF1
(HGNC:11535)
X-linked dystonia-parkinsonism
(MONDO_0010747)
Strong
EPCAM
(HGNC:11529)
congenital diarrhea 5 with tufting enteropathy
(MONDO_0013184)
Definitive
SYNJ1
(HGNC:11503)
early-onset Parkinson disease 20
(MONDO_0014233)
Strong
BVES
(HGNC:1152)
tetralogy of fallot
(MONDO_0008542)
Limited
EPCAM
(HGNC:11529)
hereditary breast carcinoma
(MONDO_0016419)
Limited
TACR3
(HGNC:11528)
Kallmann syndrome
(MONDO_0018800)
Limited
TACR3
(HGNC:11528)
hypogonadotropic hypogonadism
(MONDO_0018555)
Strong
TAC3
(HGNC:11521)
hypogonadotropic hypogonadism
(MONDO_0018555)
Strong
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