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
PIGA
(HGNC:8957)
ferro-cerebro-cutaneous syndrome
(MONDO_0018346)
 Limited
PIGA
(HGNC:8957)
multiple congenital anomalies-hypotonia-seizures syndrome 2
(MONDO_0010466)
 Strong
PHYH
(HGNC:8940)
adult Refsum disease
(MONDO_0009958)
 Definitive
SERPINB8
(HGNC:8952)
exfoliative ichthyosis
(MONDO_0017339)
 Moderate
SERPINI1
(HGNC:8943)
progressive myoclonus epilepsy
(MONDO_0020074)
 Moderate
PHKG2
(HGNC:8931)
glycogen storage disease due to liver phosphorylase kinase deficiency
(MONDO_0020693)
 Moderate
SERPINA1
(HGNC:8941)
alpha 1-antitrypsin deficiency
(MONDO_0013282)
 Definitive
AVP
(HGNC:894)
neurohypophyseal diabetes insipidus
(MONDO_0007450)
 Moderate
PHKB
(HGNC:8927)
glycogen storage disease IXb
(MONDO_0009868)
 Moderate
SERPINI1
(HGNC:8943)
familial encephalopathy with neuroserpin inclusion bodies
(MONDO_0011412)
 Strong
SERPINA1
(HGNC:8941)
cystic fibrosis
(MONDO_0009061)
 Disputed
PHKG2
(HGNC:8931)
glycogen storage disease IXc
(MONDO_0013091)
 Moderate
PHKA2
(HGNC:8926)
glycogen storage disease due to liver phosphorylase kinase deficiency
(MONDO_0020693)
 Definitive
PHKA1
(HGNC:8925)
glycogen storage disease IXd
(MONDO_0010362)
 Moderate
PHGDH
(HGNC:8923)
neurometabolic disorder due to serine deficiency
(MONDO_0018162)
 Definitive
PHKA2
(HGNC:8926)
glycogen storage disease IXa1
(MONDO_0010598)
 Definitive
PHGDH
(HGNC:8923)
Neu-Laxova syndrome
(MONDO_0000179)
 Definitive
PHGDH
(HGNC:8923)
PHGDH deficiency
(MONDO_0011152)
 Strong
ACADL
(HGNC:88)
long chain acyl-CoA dehydrogenase deficiency
(MONDO_0020531)
 Refuted
KIF1A
(HGNC:888)
intellectual disability, autosomal dominant 9
(MONDO_0013656)
 Strong
Showing 421–440 of 6699