Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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

Browse Summaries

Stats

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

Gene–Disease Browser

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Gene Disease Score Actions
AKT3
(HGNC:393)
microcephaly
(MONDO_0001149)
Limited
AKT2
(HGNC:392)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
AKT1
(HGNC:391)
Proteus syndrome
(MONDO_0008318)
Strong
AKT1
(HGNC:391)
Cowden disease
(MONDO_0016063)
Moderate
FOXP1
(HGNC:3823)
congenital heart disease
(MONDO_0005453)
Limited
FOXJ1
(HGNC:3816)
primary ciliary dyskinesia
(MONDO_0016575)
Strong
FOXI1
(HGNC:3815)
autosomal recessive nonsyndromic hearing loss 4
(MONDO_0010933)
Limited
FOXI1
(HGNC:3815)
Pendred syndrome
(MONDO_0010134)
Limited
FOXE3
(HGNC:3808)
anterior segment dysgenesis
(MONDO_0019503)
Strong
FOXI1
(HGNC:3815)
hearing loss disorder
(MONDO_0005365)
Limited
FOXE3
(HGNC:3808)
Peters anomaly
(MONDO_0011414)
Moderate
FOXE3
(HGNC:3808)
congenital primary aphakia
(MONDO_0012456)
Strong
FOXE3
(HGNC:3808)
cataract
(MONDO_0005129)
Strong
FOXE1
(HGNC:3806)
Bamforth-Lazarus syndrome
(MONDO_0009437)
Strong
FOXD3
(HGNC:3804)
anterior segment dysgenesis
(MONDO_0019503)
Limited
FOXC1
(HGNC:3800)
Axenfeld anomaly
(MONDO_0020368)
Strong
FOXD3
(HGNC:3804)
aniridia
(MONDO_0019172)
Limited
FOXC1
(HGNC:3800)
Rieger anomaly
(MONDO_0019628)
Definitive
FOXC1
(HGNC:3800)
Axenfeld-Rieger syndrome
(MONDO_0019187)
Definitive
FOXC1
(HGNC:3800)
Peters anomaly
(MONDO_0011414)
Limited
Showing 1581–1600 of 6681