Gene: PIGN ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 26419326 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. 26364997 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 26419326 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. 26879448 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 26394714 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. 26879448 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 26394714 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 27038415 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. 26364997 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 27038415 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. 25920937 2015
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. 25920937 2015
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. 24253414 2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. 24253414 2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103 2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103 2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. 21493957 2011
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. 21493957 2011
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. 18635593 2008
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. 18635593 2008
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 CausalMutation disease CLINVAR Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol. 10574991 1999
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.120 GeneticVariation disease CLINVAR Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol. 10574991 1999