Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917716
rs121917716
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 GeneticVariation UNIPROT Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. 12794692

2003
dbSNP: rs121917716
rs121917716
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 GeneticVariation UNIPROT De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 12414818

2002
dbSNP: rs121917716
rs121917716
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 GeneticVariation UNIPROT Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342

1999
dbSNP: rs121917716
rs121917716
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 GeneticVariation UNIPROT Point mutations in human GLI3 cause Greig syndrome. 9302279

1997