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
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
SMAD9
(HGNC:6774)
pulmonary arterial hypertension
(MONDO_0015924)
 Definitive
SMAD6
(HGNC:6772)
congenital radioulnar synostosis
(MONDO_0017985)
 Strong
SMAD4
(HGNC:6770)
hereditary hemorrhagic telangiectasia
(MONDO_0019180)
 Definitive
SMAD4
(HGNC:6770)
juvenile polyposis syndrome
(MONDO_0017380)
 Definitive
SMAD4
(HGNC:6770)
pulmonary arterial hypertension
(MONDO_0015924)
 Limited
SMAD4
(HGNC:6770)
Myhre syndrome
(MONDO_0007688)
 Definitive
SMAD3
(HGNC:6769)
familial thoracic aortic aneurysm and aortic dissection
(MONDO_0019625)
 Moderate
SMAD3
(HGNC:6769)
aneurysm-osteoarthritis syndrome
(MONDO_0013426)
 Strong
SMAD2
(HGNC:6768)
Loeys-Dietz syndrome
(MONDO_0018954)
 Moderate
SMAD2
(HGNC:6768)
congenital heart disease
(MONDO_0005453)
 Limited
MAD2L2
(HGNC:6764)
Fanconi anemia
(MONDO_0019391)
 Moderate
ARHGAP4
(HGNC:674)
intellectual disability
(MONDO_0001071)
 Limited
CAPRIN1
(HGNC:6743)
autism spectrum disorder
(MONDO_0005258)
 Limited
LZTR1
(HGNC:6742)
breast cancer
(MONDO_0007254)
 Limited
LZTFL1
(HGNC:6741)
Bardet-Biedl syndrome
(MONDO_0015229)
 Moderate
LZTFL1
(HGNC:6741)
ciliopathy
(MONDO_0005308)
 Limited
LYZ
(HGNC:6740)
ALys amyloidosis
(MONDO_0019732)
 Strong
LTBP2
(HGNC:6715)
Weill-Marchesani syndrome
(MONDO_0018096)
 Moderate
LTBP2
(HGNC:6715)
congenital glaucoma
(MONDO_0020366)
 Limited
LSS
(HGNC:6708)
hypotrichosis 14
(MONDO_0032649)
 Strong
Showing 921–940 of 6681