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!

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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
GDF5
(HGNC:4220)
brachydactyly type A2
(MONDO_0007216)
Strong
GDF5
(HGNC:4220)
brachydactyly type A1
(MONDO_0007215)
Strong
GDF5
(HGNC:4220)
Angel-shaped phalango-epiphyseal dysplasia
(MONDO_0007114)
Limited
GDF2
(HGNC:4217)
hereditary hemorrhagic telangiectasia
(MONDO_0019180)
Moderate
GDF2
(HGNC:4217)
pulmonary arterial hypertension
(MONDO_0015924)
Definitive
GDF1
(HGNC:4214)
right atrial isomerism
(MONDO_0008832)
Strong
GCSH
(HGNC:4208)
glycine encephalopathy
(MONDO_0011612)
Strong
OPN1MW
(HGNC:4206)
blue cone monochromacy
(MONDO_0010563)
Strong
GCM2
(HGNC:4198)
familial isolated hyperparathyroidism
(MONDO_0015027)
Strong
GCK
(HGNC:4195)
permanent neonatal diabetes mellitus
(MONDO_0100164)
Definitive
GCK
(HGNC:4195)
maturity-onset diabetes of the young
(MONDO_0018911)
Definitive
GCK
(HGNC:4195)
monogenic diabetes
(MONDO_0015967)
Definitive
GCK
(HGNC:4195)
maturity-onset diabetes of the young type 2
(MONDO_0007453)
Definitive
GCGR
(HGNC:4192)
GCGR-related hyperglucagonemia
(MONDO_0018582)
Strong
GCH1
(HGNC:4193)
GTP cyclohydrolase I deficiency
(MONDO_0100184)
Moderate
GBA1
(HGNC:4177)
Gaucher disease type III
(MONDO_0009267)
Definitive
GBA1
(HGNC:4177)
Gaucher disease
(MONDO_0018150)
Definitive
GBA1
(HGNC:4177)
Gaucher disease perinatal lethal
(MONDO_0011945)
Strong
GBA1
(HGNC:4177)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
(MONDO_0009268)
Moderate
GBA1
(HGNC:4177)
Gaucher disease type II
(MONDO_0009266)
Definitive
Showing 1501–1520 of 6681