Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Gene Disease Score Actions
SMARCE1
(HGNC:11109)
Coffin-Siris syndrome
(MONDO_0015452)
Strong
SOX9
(HGNC:11204)
46,XX ovotesticular disorder of sex development
(MONDO_0016281)
Limited
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)
Moderate
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)
Limited
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)
Moderate
SOX3
(HGNC:11199)
septooptic dysplasia
(MONDO_0008428)
Limited
SOX2
(HGNC:11195)
anophthalmia/microphthalmia-esophageal atresia syndrome
(MONDO_0008799)
Strong
SOX11
(HGNC:11191)
Coffin-Siris syndrome
(MONDO_0015452)
Strong
SOX11
(HGNC:11191)
intellectual disability, autosomal dominant 27
(MONDO_0014376)
Strong
SMO
(HGNC:11119)
medulloblastoma
(MONDO_0007959)
Limited
SOS1
(HGNC:11187)
cardiofaciocutaneous syndrome
(MONDO_0015280)
Limited
Showing 4021–4040 of 6699