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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
ARX
(HGNC:18060)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
ARX
(HGNC:18060)
|
Partington syndrome
(MONDO_0010654)
|
Strong
|
|
|
ARID1B
(HGNC:18040)
|
Coffin-Siris syndrome 1
(MONDO_0007617)
|
Definitive
|
|
|
ARX
(HGNC:18060)
|
infantile epileptic-dyskinetic encephalopathy
(MONDO_0018226)
|
Moderate
|
|
|
ARX
(HGNC:18060)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
ARX
(HGNC:18060)
|
X-linked lissencephaly with abnormal genitalia
(MONDO_0010268)
|
Strong
|
|
|
ARX
(HGNC:18060)
|
corpus callosum agenesis-abnormal genitalia syndrome
(MONDO_0010224)
|
Limited
|
|
|
PKD1L1
(HGNC:18053)
|
situs inversus
(MONDO_0010029)
|
Moderate
|
|
|
ARID1B
(HGNC:18040)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Definitive
|
|
|
ARID2
(HGNC:18037)
|
Coffin-Siris syndrome 6
(MONDO_0033492)
|
Moderate
|
|
|
KDM5B
(HGNC:18039)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
ARID2
(HGNC:18037)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Strong
|
|
|
TMC6
(HGNC:18021)
|
epidermodysplasia verruciformis
(MONDO_0009176)
|
Strong
|
|
|
NUP160
(HGNC:18017)
|
familial idiopathic steroid-resistant nephrotic syndrome
(MONDO_0019006)
|
Moderate
|
|
|
FKRP
(HGNC:17997)
|
autosomal recessive limb-girdle muscular dystrophy type 2I
(MONDO_0011787)
|
Definitive
|
|
|
CDSN
(HGNC:1802)
|
hypotrichosis 2
(MONDO_0007805)
|
Strong
|
|
|
AADAC
(HGNC:17)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
FKRP
(HGNC:17997)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Strong
|
|
|
TRPM4
(HGNC:17993)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
FKRP
(HGNC:17997)
|
muscular dystrophy-dystroglycanopathy type B5
(MONDO_0011688)
|
Strong
|
|