Disease: Zunich neuroectodermal syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145303331
rs145303331
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease:
Zunich neuroectodermal syndrome 		0.810 GeneticVariation BEFREE We report a CHIME</span> syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5' untranslated region and part of exon 1 of PIGL. 29473937 2019
dbSNP: rs145303331
rs145303331
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease:
Zunich neuroectodermal syndrome 		0.810 GeneticVariation UNIPROT Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012
dbSNP: rs145303331
rs145303331
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease:
Zunich neuroectodermal syndrome 		C 0.810 CausalMutation CLINVAR Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012