|
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
|
|