PORCN, porcupine O-acyltransferase, 64840

N. diseases: 162; N. variants: 9
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
dbSNP: rs1057519006
rs1057519006
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1114167283
rs1114167283
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852218
rs137852218
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852219
rs137852219
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1556975151
rs1556975151
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906723
rs387906723
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776737
rs587776737
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		GTCCCTGGCTTTTA 0.700 CausalMutation CLINVAR
dbSNP: rs1057517951
rs1057517951
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia 		0.010 GeneticVariation BEFREE Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. 23696273 2013