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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Moderate
|
|
|
MAD2L2
(HGNC:6764)
|
Fanconi anemia
(MONDO_0019391)
|
Limited
|
|
|
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)
|
Moderate
|
|
|
LSS
(HGNC:6708)
|
alopecia-intellectual disability syndrome 4
(MONDO_0030009)
|
Moderate
|
|
|
LSS
(HGNC:6708)
|
cataract 44
(MONDO_0014673)
|
Moderate
|
|