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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
SNCA
(HGNC:11138)
Lewy body dementia
(MONDO_0007488)
 Strong
SIK1
(HGNC:11142)
early myoclonic encephalopathy
(MONDO_0016022)
 Moderate
SNCA
(HGNC:11138)
Parkinson disease
(MONDO_0005180)
 Definitive
SNCA
(HGNC:11138)
parkinsonian-pyramidal syndrome
(MONDO_0009830)
 Limited
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)
 Definitive
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)
 Definitive
SMARCB1
(HGNC:11103)
schwannomatosis
(MONDO_0008075)
 Strong
SMARCA4
(HGNC:11100)
intellectual disability, autosomal dominant 16
(MONDO_0013821)
 Moderate
SMARCA4
(HGNC:11100)
familial rhabdoid tumor
(MONDO_0016473)
 Limited
SMARCA4
(HGNC:11100)
rhabdoid tumor predisposition syndrome 2
(MONDO_0013224)
 Strong
SMARCA1
(HGNC:11097)
X-linked intellectual disability
(MONDO_0100284)
 Moderate
SMARCA1
(HGNC:11097)
neurodevelopmental disorder
(MONDO_0700092)
 Strong
Showing 4041–4060 of 6681