KRT3, keratin 3, 3850

N. diseases: 16; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60410063
rs60410063
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT
dbSNP: rs62642055
rs62642055
Entrez Id: 3850;3851
Gene Symbol: KRT3;KRT4
KRT3;KRT4
CUI: C4011926
Disease:
WHITE SPONGE NEVUS 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs60410063
rs60410063
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
CUI: C1636149
Disease:
Macular dystrophy, corneal type 1 		0.010 GeneticVariation BEFREE A novel missense mutation (R503P) in KRT3 and another novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families. 16227835 2005
dbSNP: rs57872071
rs57872071
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs57872071
rs57872071
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		0.700 GeneticVariation UNIPROT Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005