Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568224018
rs1568224018
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C3279775
Disease:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		A 0.700 GeneticVariation CLINVAR Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 27038415 2016
dbSNP: rs1568224018
rs1568224018
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C3279775
Disease:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 		A 0.700 GeneticVariation CLINVAR PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. 24253414 2014