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
AIP
(HGNC:358)
acromegaly
(MONDO_0019933)
Definitive
AIP
(HGNC:358)
familial isolated pituitary adenoma
(MONDO_0017824)
Definitive
FANCG
(HGNC:3588)
Fanconi anemia
(MONDO_0019391)
Definitive
FANCF
(HGNC:3587)
Fanconi anemia
(MONDO_0019391)
Strong
FANCE
(HGNC:3586)
Fanconi anemia
(MONDO_0019391)
Strong
FANCD2
(HGNC:3585)
Fanconi anemia
(MONDO_0019391)
Definitive
FANCC
(HGNC:3584)
Fanconi anemia
(MONDO_0019391)
Definitive
FANCC
(HGNC:3584)
Fanconi anemia complementation group C
(MONDO_0009213)
Definitive
FANCC
(HGNC:3584)
prostate cancer
(MONDO_0008315)
Limited
FANCC
(HGNC:3584)
ovarian cancer
(MONDO_0008170)
Limited
FANCC
(HGNC:3584)
breast cancer
(MONDO_0007254)
Disputed
FANCC
(HGNC:3584)
colorectal cancer
(MONDO_0005575)
Limited
FANCA
(HGNC:3582)
Fanconi anemia
(MONDO_0019391)
Definitive
FANCB
(HGNC:3583)
Fanconi anemia
(MONDO_0019391)
Definitive
BPTF
(HGNC:3581)
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
(MONDO_0060596)
Definitive
ACSL4
(HGNC:3571)
non-syndromic X-linked intellectual disability
(MONDO_0019181)
Moderate
F9
(HGNC:3551)
severe hemophilia B
(MONDO_0015715)
Definitive
F8
(HGNC:3546)
mild hemophilia A
(MONDO_0015721)
Strong
F8
(HGNC:3546)
severe hemophilia A
(MONDO_0015719)
Definitive
F8
(HGNC:3546)
hemophilia A
(MONDO_0010602)
Definitive
Showing 1701–1720 of 6681