Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777737
rs587777737
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C4014987
Disease:
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		0.800 GeneticVariation UNIPROT Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. 25152456 2014
dbSNP: rs587777737
rs587777737
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C4014987
Disease:
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		C 0.800 CausalMutation CLINVAR