Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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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
Showing 941–960 of 6699