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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
BMPR1A
(HGNC:1076)
hereditary mixed polyposis syndrome
(MONDO_0011023)
 Strong
BMP4
(HGNC:1071)
Stickler syndrome
(MONDO_0019354)
 Limited
SEMA4A
(HGNC:10729)
familial colorectal cancer type X
(MONDO_0018604)
 Limited
SEMA4A
(HGNC:10729)
cone-rod dystrophy
(MONDO_0015993)
 Limited
SELENBP1
(HGNC:10719)
schizophrenia
(MONDO_0005090)
 Limited
SEC24D
(HGNC:10706)
Cole-Carpenter syndrome
(MONDO_0016085)
 Moderate
SEC24D
(HGNC:10706)
Cole-Carpenter syndrome 2
(MONDO_0014573)
 Moderate
SEC23B
(HGNC:10702)
congenital dyserythropoietic anemia
(MONDO_0019403)
 Definitive
SEC23B
(HGNC:10702)
congenital dyserythropoietic anemia type 2
(MONDO_0009134)
 Definitive
SDHC
(HGNC:10682)
gastrointestinal stromal tumor
(MONDO_0011719)
 Strong
SEC23B
(HGNC:10702)
Cowden disease
(MONDO_0016063)
 Limited
SDHD
(HGNC:10683)
Cowden disease
(MONDO_0016063)
 Limited
BMP2
(HGNC:1069)
brachydactyly type A2
(MONDO_0007216)
 Moderate
SDHD
(HGNC:10683)
Carney-Stratakis syndrome
(MONDO_0011740)
 Strong
SDHD
(HGNC:10683)
mitochondrial disease
(MONDO_0044970)
 Moderate
SDHD
(HGNC:10683)
pheochromocytoma
(MONDO_0008233)
 Definitive
SDHD
(HGNC:10683)
paragangliomas 1
(MONDO_0008192)
 Strong
SDHC
(HGNC:10682)
mitochondrial disease
(MONDO_0044970)
 Limited
SDHD
(HGNC:10683)
renal cell carcinoma
(MONDO_0005086)
 Limited
SDHC
(HGNC:10682)
Carney-Stratakis syndrome
(MONDO_0011740)
 Strong
Showing 4181–4200 of 6681