Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries

Gene–Disease Browser

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Gene Disease Score Actions
HNF1B
(HGNC:11630)
renal cysts and diabetes syndrome
(MONDO_0007669)
Definitive
TCF12
(HGNC:11623)
TCF12-related craniosynostosis
(MONDO_0014128)
Definitive
HNF1A
(HGNC:11621)
monogenic diabetes
(MONDO_0015967)
Definitive
HNF1A
(HGNC:11621)
maturity-onset diabetes of the young type 3
(MONDO_0010894)
Definitive
CEP55
(HGNC:1161)
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
(MONDO_0009359)
Strong
TCAP
(HGNC:11610)
autosomal recessive limb-girdle muscular dystrophy type 2G
(MONDO_0011170)
Moderate
TCAP
(HGNC:11610)
hypertrophic cardiomyopathy
(MONDO_0005045)
Limited
TWNK
(HGNC:1160)
Perrault syndrome
(MONDO_0017312)
Strong
TCAP
(HGNC:11610)
dilated cardiomyopathy
(MONDO_0005021)
Limited
TWNK
(HGNC:1160)
mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
(MONDO_0010060)
Strong
TWNK
(HGNC:1160)
autosomal dominant progressive external ophthalmoplegia
(MONDO_0008003)
Definitive
TBXAS1
(HGNC:11609)
ghosal hematodiaphyseal dysplasia
(MONDO_0009274)
Strong
TBX6
(HGNC:11605)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
Moderate
TBX5
(HGNC:11604)
Holt-Oram syndrome
(MONDO_0007732)
Definitive
TBX4
(HGNC:11603)
pulmonary arterial hypertension
(MONDO_0015924)
Definitive
TBX4
(HGNC:11603)
heritable pulmonary arterial hypertension
(MONDO_0017148)
Moderate
TBX22
(HGNC:11600)
cleft palate with or without ankyloglossia, X-linked
(MONDO_0010560)
Definitive
TBX4
(HGNC:11603)
coxopodopatellar syndrome
(MONDO_0007841)
Strong
TBX20
(HGNC:11598)
dilated cardiomyopathy
(MONDO_0005021)
Moderate
TBX15
(HGNC:11594)
pelviscapular dysplasia
(MONDO_0009845)
Moderate
Showing 3901–3920 of 6699