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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
SMO
(HGNC:11119)
medulloblastoma
(MONDO_0007959)
 Limited
SOS1
(HGNC:11187)
cardiofaciocutaneous syndrome
(MONDO_0015280)
 Limited
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)
 Definitive
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)
 Disputed
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)
 Moderate
SIK1
(HGNC:11142)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Moderate
Showing 4021–4040 of 6681