Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777398
rs587777398
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
CUI: C3275508
Disease:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs587777398
rs587777398
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
CUI: C3275508
Disease:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.800 GeneticVariation UNIPROT A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. 24259288 2014
dbSNP: rs587777398
rs587777398
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
CUI: C3275508
Disease:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.800 GeneticVariation UNIPROT Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. 24259184 2014
dbSNP: rs587777398
rs587777398
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
CUI: C3275508
Disease:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.800 GeneticVariation UNIPROT PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. 24706016 2014
dbSNP: rs587777398
rs587777398
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
CUI: C3275508
Disease:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.800 GeneticVariation UNIPROT The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. 22305531 2012
dbSNP: rs587777398
rs587777398
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
CUI: C3275508
Disease:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		A 0.800 CausalMutation CLINVAR