Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747661902
rs747661902
PIGQ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065

2015
dbSNP: rs747661902
rs747661902
PIGQ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949

2015
dbSNP: rs747661902
rs747661902
PIGQ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. 24852103

2014
dbSNP: rs747661902
rs747661902
PIGQ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883

2014
dbSNP: rs747661902
rs747661902
PIGQ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics. 22265715

2012
dbSNP: rs747661902
rs747661902
PIGQ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis. 11418246

2001
dbSNP: rs747661902
rs747661902
PIGQ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. 10373468

1999
dbSNP: rs747661902
rs747661902
PIGQ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. 9729469

1998
dbSNP: rs747661902
rs747661902
PIGQ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. 9463366

1998