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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
GBA1
(HGNC:4177)
Gaucher disease type I
(MONDO_0009265)
 Definitive
GBA1
(HGNC:4177)
Parkinson disease
(MONDO_0005180)
 Strong
GATM
(HGNC:4175)
AGAT deficiency
(MONDO_0012996)
 Definitive
GATM
(HGNC:4175)
Fanconi renotubular syndrome 1
(MONDO_0024525)
 Limited
GATM
(HGNC:4175)
primary Fanconi syndrome
(MONDO_0007600)
 Moderate
GATA6
(HGNC:4174)
conotruncal heart malformations
(MONDO_0016581)
 Strong
GATA6
(HGNC:4174)
neonatal diabetes mellitus
(MONDO_0016391)
 Definitive
GATA6
(HGNC:4174)
tetralogy of fallot
(MONDO_0008542)
 Moderate
GATA4
(HGNC:4173)
neonatal diabetes mellitus
(MONDO_0016391)
 Disputed
GATA4
(HGNC:4173)
tetralogy of fallot
(MONDO_0008542)
 Moderate
GATA4
(HGNC:4173)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
GATA3
(HGNC:4172)
hypoparathyroidism-deafness-renal disease syndrome
(MONDO_0007797)
 Definitive
GATA2
(HGNC:4171)
myelodysplastic syndrome
(MONDO_0018881)
 Definitive
GATA2
(HGNC:4171)
monocytopenia with susceptibility to infections
(MONDO_0013607)
 Definitive
GATA2
(HGNC:4171)
deafness-lymphedema-leukemia syndrome
(MONDO_0013540)
 Definitive
GATA1
(HGNC:4170)
GATA1-Related X-Linked Cytopenia
(MONDO_0100089)
 Strong
GATA1
(HGNC:4170)
Diamond-Blackfan anemia
(MONDO_0015253)
 Moderate
GATA1
(HGNC:4170)
cutaneous porphyria
(MONDO_0009902)
 Moderate
GAS2
(HGNC:4167)
hearing loss disorder
(MONDO_0005365)
 Moderate
GAS8
(HGNC:4166)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
Showing 1521–1540 of 6681