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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
BRCA2
(HGNC:1101)
|
sarcoma
(MONDO_0005089)
|
Moderate
|
|
|
SLC34A1
(HGNC:11019)
|
primary Fanconi syndrome
(MONDO_0007600)
|
Moderate
|
|
|
SLC2A2
(HGNC:11006)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Moderate
|
|
|
BRCA1
(HGNC:1100)
|
Fanconi anemia
(MONDO_0019391)
|
Moderate
|
|
|
SLC2A1
(HGNC:11005)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Moderate
|
|
|
SLC2A2
(HGNC:11006)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Limited
|
|
|
SLC2A2
(HGNC:11006)
|
glycogen storage disease due to GLUT2 deficiency
(MONDO_0009216)
|
Definitive
|
|
|
SLC2A1
(HGNC:11005)
|
encephalopathy due to GLUT1 deficiency
(MONDO_0011724)
|
Definitive
|
|
|
SLC2A1
(HGNC:11005)
|
childhood onset GLUT1 deficiency syndrome 2
(MONDO_0012805)
|
Strong
|
|
|
SLC26A2
(HGNC:10994)
|
atelosteogenesis type II
(MONDO_0009727)
|
Definitive
|
|
|
SLC2A1
(HGNC:11005)
|
childhood absence epilepsy
(MONDO_0010826)
|
Moderate
|
|
|
SLC27A4
(HGNC:10998)
|
ichthyosis prematurity syndrome
(MONDO_0012089)
|
Definitive
|
|
|
SLC2A1
(HGNC:11005)
|
GLUT1 deficiency syndrome
(MONDO_0000188)
|
Definitive
|
|
|
SLC25A4
(HGNC:10990)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
SLC26A2
(HGNC:10994)
|
multiple epiphyseal dysplasia type 4
(MONDO_0009189)
|
Definitive
|
|
|
SLC26A2
(HGNC:10994)
|
achondrogenesis type IB
(MONDO_0010966)
|
Definitive
|
|
|
SLC25A5
(HGNC:10991)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
SLC25A15
(HGNC:10985)
|
ornithine translocase deficiency
(MONDO_0009393)
|
Definitive
|
|
|
SLC25A4
(HGNC:10990)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
SLC25A13
(HGNC:10983)
|
citrullinemia type II
(MONDO_0016603)
|
Definitive
|
|