KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.810 GeneticVariation BEFREE A heterozygous missense mutation (L124R) was detected in a kindred with PC-1. 10839714 2000
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.810 GeneticVariation UNIPROT
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		C 0.810 CausalMutation CLINVAR