Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
SNCA
(HGNC:11138)
Parkinson disease
(MONDO_0005180)
 Definitive
SNCA
(HGNC:11138)
parkinsonian-pyramidal syndrome
(MONDO_0009830)
 Refuted
SMPX
(HGNC:11122)
hearing loss, X-linked 4
(MONDO_0010238)
 Moderate
ARID1A
(HGNC:11110)
Coffin-Siris syndrome
(MONDO_0015452)
 Definitive
SMPD1
(HGNC:11120)
acid sphingomyelinase deficiency
(MONDO_0100464)
 Definitive
SMN1
(HGNC:11117)
spinal muscular atrophy, type II
(MONDO_0009673)
 Strong
SMARCC2
(HGNC:11105)
Coffin-Siris syndrome 8
(MONDO_0032702)
 Strong
SMARCB1
(HGNC:11103)
familial rhabdoid tumor
(MONDO_0016473)
 Strong
SMARCD2
(HGNC:11107)
specific granule deficiency
(MONDO_0009506)
 Moderate
SMARCB1
(HGNC:11103)
rhabdoid tumor predisposition syndrome 1
(MONDO_0012252)
 Strong
SMARCB1
(HGNC:11103)
Coffin-Siris syndrome
(MONDO_0015452)
 Definitive
SMARCA4
(HGNC:11100)
Coffin-Siris syndrome
(MONDO_0015452)
 Strong
SMARCB1
(HGNC:11103)
schwannomatosis
(MONDO_0008075)
 Strong
SMARCA4
(HGNC:11100)
intellectual disability, autosomal dominant 16
(MONDO_0013821)
 Limited
SMARCA4
(HGNC:11100)
familial rhabdoid tumor
(MONDO_0016473)
 Moderate
SMARCA4
(HGNC:11100)
rhabdoid tumor predisposition syndrome 2
(MONDO_0013224)
 Moderate
SMARCA1
(HGNC:11097)
X-linked intellectual disability
(MONDO_0100284)
 Limited
SMARCA1
(HGNC:11097)
neurodevelopmental disorder
(MONDO_0700092)
 Strong
SNAI2
(HGNC:11094)
Waardenburg syndrome type 2
(MONDO_0019517)
 Limited
SNAI2
(HGNC:11094)
Waardenburg syndrome
(MONDO_0018094)
 Limited
Showing 4061–4080 of 6699