Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 26419326

2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 27038415

2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 27038415

2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 26419326

2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. 25920937

2015
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. 25920937

2015
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. 24253414

2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. 24253414

2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. 21493957

2011
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. 21493957

2011
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. 18635593

2008
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. 18635593

2008
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol. 10574991

1999