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
FTL
(HGNC:3999)
neuroferritinopathy
(MONDO_0011638)
Definitive
FTL
(HGNC:3999)
hereditary hyperferritinemia with congenital cataracts
(MONDO_0010952)
Definitive
ALAS2
(HGNC:397)
X-linked sideroblastic anemia 1
(MONDO_0020721)
Definitive
ALAS2
(HGNC:397)
X-linked erythropoietic protoporphyria
(MONDO_0010420)
Definitive
FSHR
(HGNC:3969)
premature menopause
(MONDO_0001119)
Strong
FXN
(HGNC:3951)
Friedreich ataxia
(MONDO_0100339)
Definitive
FOXG1
(HGNC:3811)
Rett syndrome, congenital variant
(MONDO_0013270)
Definitive
FOXF1
(HGNC:3809)
alveolar capillary dysplasia with misalignment of pulmonary veins
(MONDO_0009934)
Definitive
FOXG1
(HGNC:3811)
Rett syndrome
(MONDO_0010726)
Definitive
FOXE1
(HGNC:3806)
congenital hypothyroidism
(MONDO_0018612)
Moderate
FOXC2
(HGNC:3801)
lymphedema-distichiasis syndrome
(MONDO_0007922)
Definitive
FN1
(HGNC:3778)
fibronectin glomerulopathy
(MONDO_0007671)
Definitive
FOLR1
(HGNC:3791)
cerebral folate deficiency
(MONDO_0100034)
Strong
FMO3
(HGNC:3771)
trimethylaminuria
(MONDO_0011182)
Definitive
FLT4
(HGNC:3767)
lymphatic malformation 1
(MONDO_0007919)
Definitive
FHL1
(HGNC:3702)
reducing body myopathy
(MONDO_0019948)
Definitive
FLI1
(HGNC:3749)
Ewing sarcoma
(MONDO_0012817)
Definitive
FGG
(HGNC:3694)
congenital afibrinogenemia
(MONDO_0008737)
Strong
FHL1
(HGNC:3702)
Emery-Dreifuss muscular dystrophy
(MONDO_0016830)
Definitive
FHL1
(HGNC:3702)
hypertrophic cardiomyopathy
(MONDO_0005045)
Strong
Showing 4661–4680 of 6681