|
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
|
|