PORCN, porcupine O-acyltransferase, 64840

N. diseases: 162; N. variants: 9
Disease: Focal Dermal Hypoplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606973
rs267606973
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		0.800 GeneticVariation UNIPROT Mutation update for the PORCN gene. 21472892 2011
dbSNP: rs267606973
rs267606973
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		0.800 GeneticVariation UNIPROT PORCN mutations in focal dermal hypoplasia: coping with lethality. 19309688 2009
dbSNP: rs267606973
rs267606973
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		0.800 GeneticVariation UNIPROT Novel PORCN mutations in focal dermal hypoplasia. 19863546 2009
dbSNP: rs267606973
rs267606973
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		0.800 GeneticVariation UNIPROT Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. 19277062 2009
dbSNP: rs267606973
rs267606973
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		0.800 GeneticVariation UNIPROT Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. 19586929 2009
dbSNP: rs267606973
rs267606973
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		0.800 GeneticVariation UNIPROT Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. 18325042 2008
dbSNP: rs267606973
rs267606973
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		0.800 GeneticVariation UNIPROT Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. 17546030 2007
dbSNP: rs267606973
rs267606973
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		0.800 GeneticVariation UNIPROT Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. 17546031 2007
dbSNP: rs267606973
rs267606973
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		A 0.800 CausalMutation CLINVAR