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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
BRCA2
(HGNC:1101)
Fanconi anemia complementation group D1
(MONDO_0011584)
 Definitive
BRCA2
(HGNC:1101)
medulloblastoma
(MONDO_0007959)
 Moderate
BRCA2
(HGNC:1101)
sarcoma
(MONDO_0005089)
 Moderate
SLC34A1
(HGNC:11019)
primary Fanconi syndrome
(MONDO_0007600)
 Moderate
SLC2A2
(HGNC:11006)
neonatal diabetes mellitus
(MONDO_0016391)
 Strong
BRCA1
(HGNC:1100)
Fanconi anemia
(MONDO_0019391)
 Strong
SLC2A1
(HGNC:11005)
myoclonic-astatic epilepsy
(MONDO_0016025)
 Strong
SLC2A2
(HGNC:11006)
permanent neonatal diabetes mellitus
(MONDO_0100164)
 Strong
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)
 Definitive
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
Showing 4081–4100 of 6681