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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
SGCA
(HGNC:10805)
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
 Moderate
SGCD
(HGNC:10807)
autosomal recessive limb-girdle muscular dystrophy type 2F
(MONDO_0011028)
 Moderate
SFTPA2
(HGNC:10799)
interstitial lung disease 2
(MONDO_0800029)
 Strong
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)
 Definitive
BMPR1B
(HGNC:1077)
acromesomelic dysplasia 2A
(MONDO_0008703)
 Strong
BMPR1B
(HGNC:1077)
pulmonary arterial hypertension
(MONDO_0015924)
 Moderate
BMPR1B
(HGNC:1077)
brachydactyly type A1
(MONDO_0007215)
 Limited
SF3B4
(HGNC:10771)
acrofacial dysostosis Rodriguez type
(MONDO_0008714)
 Strong
SFRP4
(HGNC:10778)
Pyle disease
(MONDO_0009943)
 Definitive
SEMA4A
(HGNC:10729)
retinitis pigmentosa
(MONDO_0019200)
 Limited
SEMA3E
(HGNC:10727)
Kallmann syndrome
(MONDO_0018800)
 Moderate
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)
 Strong
Showing 4161–4180 of 6681