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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
SOX10
(HGNC:11190)
|
PCWH syndrome
(MONDO_0012198)
|
Strong
|
|
|
SMPD1
(HGNC:11120)
|
Niemann-Pick disease type A
(MONDO_0009756)
|
Definitive
|
|
|
SOS1
(HGNC:11187)
|
hereditary gingival fibromatosis
(MONDO_0016070)
|
Moderate
|
|
|
SMN1
(HGNC:11117)
|
spinal muscular atrophy, type III
(MONDO_0009672)
|
Strong
|
|
|
SORD
(HGNC:11184)
|
neuronopathy, distal hereditary motor, autosomal recessive 8
(MONDO_0030055)
|
Strong
|
|
|
SMO
(HGNC:11119)
|
Curry-Jones syndrome
(MONDO_0011134)
|
Strong
|
|
|
SMO
(HGNC:11119)
|
congenital hypothalamic hamartoma syndrome
(MONDO_0009436)
|
Limited
|
|
|
KDM5C
(HGNC:11114)
|
syndromic X-linked intellectual disability Claes-Jensen type
(MONDO_0010355)
|
Strong
|
|
|
SORD
(HGNC:11184)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
SOS1
(HGNC:11187)
|
Costello syndrome
(MONDO_0009026)
|
Limited
|
|
|
CAPN15
(HGNC:11182)
|
oculogastrointestinal-neurodevelopmental syndrome
(MONDO_0036189)
|
Moderate
|
|
|
BSN
(HGNC:1117)
|
epilepsy
(MONDO_0005027)
|
Moderate
|
|
|
SOD1
(HGNC:11179)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Definitive
|
|
|
SOD1
(HGNC:11179)
|
amyotrophic lateral sclerosis type 1
(MONDO_0007103)
|
Definitive
|
|
|
SNTA1
(HGNC:11167)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
SNX3
(HGNC:11174)
|
MMEP syndrome
(MONDO_0011045)
|
Disputed
|
|
|
SIK1
(HGNC:11142)
|
West syndrome
(MONDO_0018097)
|
Limited
|
|
|
SIK1
(HGNC:11142)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
SNCA
(HGNC:11138)
|
Lewy body dementia
(MONDO_0007488)
|
Strong
|
|
|
SIK1
(HGNC:11142)
|
early myoclonic encephalopathy
(MONDO_0016022)
|
Limited
|
|