Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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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
Showing 3961–3980 of 6699