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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
SFTPA2
(HGNC:10799)
|
interstitial lung disease 2
(MONDO_0800029)
|
Moderate
|
|
|
BMPR2
(HGNC:1078)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
BMPR2
(HGNC:1078)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
BMPR2
(HGNC:1078)
|
heritable pulmonary arterial hypertension
(MONDO_0017148)
|
Definitive
|
|
|
SFTPB
(HGNC:10801)
|
surfactant metabolism dysfunction, pulmonary, 1
(MONDO_0009929)
|
Strong
|
|
|
BMPR1B
(HGNC:1077)
|
acromesomelic dysplasia 2A
(MONDO_0008703)
|
Moderate
|
|
|
BMPR1B
(HGNC:1077)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Limited
|
|
|
BMPR1B
(HGNC:1077)
|
brachydactyly type A1
(MONDO_0007215)
|
Limited
|
|
|
SF3B4
(HGNC:10771)
|
acrofacial dysostosis Rodriguez type
(MONDO_0008714)
|
Moderate
|
|
|
SFRP4
(HGNC:10778)
|
Pyle disease
(MONDO_0009943)
|
Strong
|
|
|
SEMA4A
(HGNC:10729)
|
retinitis pigmentosa
(MONDO_0019200)
|
Disputed
|
|
|
SEMA3E
(HGNC:10727)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
SEMA3E
(HGNC:10727)
|
CHARGE syndrome
(MONDO_0008965)
|
Limited
|
|
|
SEMA3A
(HGNC:10723)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
SEMA3A
(HGNC:10723)
|
Kallmann syndrome
(MONDO_0018800)
|
Moderate
|
|
|
BMPR1A
(HGNC:1076)
|
juvenile polyposis syndrome
(MONDO_0017380)
|
Definitive
|
|
|
SET
(HGNC:10760)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
SF3B4
(HGNC:10771)
|
Nager acrofacial dysostosis
(MONDO_0007943)
|
Definitive
|
|
|
BMPR1A
(HGNC:1076)
|
hereditary mixed polyposis syndrome
(MONDO_0011023)
|
Moderate
|
|
|
BMP4
(HGNC:1071)
|
Stickler syndrome
(MONDO_0019354)
|
Limited
|
|