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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
SMPD1
(HGNC:11120)
Niemann-Pick disease
(MONDO_0001982)
 Definitive
SPAG1
(HGNC:11212)
primary ciliary dyskinesia
(MONDO_0016575)
 Definitive
SMARCE1
(HGNC:11109)
Coffin-Siris syndrome
(MONDO_0015452)
 Strong
SOX9
(HGNC:11204)
46,XX ovotesticular disorder of sex development
(MONDO_0016281)
 Strong
SOS1
(HGNC:11187)
Noonan syndrome
(MONDO_0018997)
 Definitive
SOX9
(HGNC:11204)
46,XY complete gonadal dysgenesis
(MONDO_0010765)
 Moderate
SOX2
(HGNC:11195)
septooptic dysplasia
(MONDO_0008428)
 Limited
SOX9
(HGNC:11204)
campomelic dysplasia
(MONDO_0007251)
 Definitive
SOX9
(HGNC:11204)
isolated Pierre-Robin syndrome
(MONDO_0009869)
 Moderate
SOX4
(HGNC:11200)
Coffin-Siris syndrome
(MONDO_0015452)
 Limited
SOX10
(HGNC:11190)
Waardenburg syndrome type 4C
(MONDO_0013202)
 Moderate
SOS2
(HGNC:11188)
Noonan syndrome
(MONDO_0018997)
 Strong
SOX4
(HGNC:11200)
atrial fibrillation
(MONDO_0004981)
 Moderate
SOX3
(HGNC:11199)
panhypopituitarism
(MONDO_0019591)
 Moderate
SOX3
(HGNC:11199)
46,XX ovotesticular disorder of sex development
(MONDO_0016281)
 Limited
SOX3
(HGNC:11199)
panhypopituitarism, X-linked
(MONDO_0010712)
 Strong
SOX3
(HGNC:11199)
septooptic dysplasia
(MONDO_0008428)
 Moderate
SOX2
(HGNC:11195)
anophthalmia/microphthalmia-esophageal atresia syndrome
(MONDO_0008799)
 Definitive
SOX11
(HGNC:11191)
Coffin-Siris syndrome
(MONDO_0015452)
 Definitive
SOX11
(HGNC:11191)
intellectual disability, autosomal dominant 27
(MONDO_0014376)
 Strong
Showing 4001–4020 of 6681