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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
STXBP1
(HGNC:11444)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
STXBP1
(HGNC:11444)
|
developmental and epileptic encephalopathy, 4
(MONDO_0012812)
|
Strong
|
|
|
STXBP1
(HGNC:11444)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
STXBP1
(HGNC:11444)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
STX1A
(HGNC:11433)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
STX16
(HGNC:11431)
|
pseudohypoparathyroidism type 1B
(MONDO_0011301)
|
Strong
|
|
|
STX11
(HGNC:11429)
|
familial hemophagocytic lymphohistiocytosis 4
(MONDO_0011336)
|
Strong
|
|
|
STUB1
(HGNC:11427)
|
spinocerebellar ataxia 48
(MONDO_0032526)
|
Strong
|
|
|
STK11
(HGNC:11389)
|
Peutz-Jeghers syndrome
(MONDO_0008280)
|
Definitive
|
|
|
STUB1
(HGNC:11427)
|
autosomal recessive spinocerebellar ataxia 16
(MONDO_0014339)
|
Moderate
|
|
|
STS
(HGNC:11425)
|
recessive X-linked ichthyosis
(MONDO_0010622)
|
Definitive
|
|
|
CDKL5
(HGNC:11411)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
CDKL5
(HGNC:11411)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
STAT5B
(HGNC:11367)
|
growth hormone insensitivity syndrome
(MONDO_0015892)
|
Definitive
|
|
|
CDKL5
(HGNC:11411)
|
atypical Rett syndrome
(MONDO_0017746)
|
Strong
|
|
|
STK4
(HGNC:11408)
|
combined immunodeficiency due to STK4 deficiency
(MONDO_0013934)
|
Moderate
|
|
|
STIM1
(HGNC:11386)
|
combined immunodeficiency due to STIM1 deficiency
(MONDO_0013008)
|
Strong
|
|
|
BRSK2
(HGNC:11405)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
SRPK3
(HGNC:11402)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
STAT4
(HGNC:11365)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|