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
FOXC1
(HGNC:3800)
aniridia
(MONDO_0019172)
Limited
FLT4
(HGNC:3767)
tetralogy of fallot
(MONDO_0008542)
Strong
FMR1
(HGNC:3775)
premature ovarian failure 1
(MONDO_0010706)
Strong
AKAP9
(HGNC:379)
long QT syndrome
(MONDO_0002442)
Disputed
AFF2
(HGNC:3776)
FRAXE intellectual disability
(MONDO_0010659)
Moderate
FOLR1
(HGNC:3791)
neurodegenerative syndrome due to cerebral folate transport deficiency
(MONDO_0013110)
Strong
FMR1
(HGNC:3775)
fragile X syndrome
(MONDO_0010383)
Definitive
FLRT3
(HGNC:3762)
Kallmann syndrome
(MONDO_0018800)
Limited
FMR1
(HGNC:3775)
fragile X-associated tremor/ataxia syndrome
(MONDO_0010382)
Definitive
FLNC
(HGNC:3756)
myofibrillar myopathy 5
(MONDO_0012289)
Strong
FLNB
(HGNC:3755)
spondylocarpotarsal synostosis syndrome
(MONDO_0010094)
Strong
FLNB
(HGNC:3755)
Boomerang dysplasia
(MONDO_0007208)
Definitive
FLNC
(HGNC:3756)
dilated cardiomyopathy
(MONDO_0005021)
Strong
FLNB
(HGNC:3755)
Larsen syndrome
(MONDO_0007875)
Definitive
FLNB
(HGNC:3755)
atelosteogenesis type III
(MONDO_0007168)
Strong
FLNA
(HGNC:3754)
frontometaphyseal dysplasia
(MONDO_0015942)
Strong
FLNB
(HGNC:3755)
atelosteogenesis type I
(MONDO_0007167)
Strong
FLNA
(HGNC:3754)
periventricular nodular heterotopia
(MONDO_0020341)
Definitive
FLNA
(HGNC:3754)
congenital short bowel syndrome
(MONDO_0014097)
Limited
FLNA
(HGNC:3754)
Melnick-Needles syndrome
(MONDO_0010650)
Strong
Showing 1601–1620 of 6681