Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
0.130 GeneticVariation disease BEFREE Here we report six further patients with FS with or without congenital diaphragmatic hernia and recessive loss of function PIGN alleles, including an intragenic deletion with a likely founder effect in La Réunion and other Indian Ocean islands. 29330547 2018
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
0.130 GeneticVariation disease BEFREE Mutations in PIGN have been reported in cases with multiple congenital anomalies, including one case with syndromic CDH. 27038415 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
0.130 GeneticVariation disease BEFREE 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
0.130 Biomarker disease HPO