Nonepidermolytic palmoplantar keratoderma

Disease Term Disease ID Gene Symbol Classification References Source
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC C1833030 KRT1 Causal Pathogenic evidence from ClinVar 7528239, 11286630, 29489036 ClinVar
AQP5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23830519 -
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 C4552049 KRT16 Causal Pathogenic evidence from ClinVar 7539673, 8595410, 21160496 ClinVar
KRT6C Causal Pathogenic evidence from ClinVar - ClinVar
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE C3810394 KRT6C Causal Pathogenic evidence from ClinVar 19609311, 21801157, 23662636 ClinVar
Non-epidermolytic palmoplantar keratoderma 2337 AQP5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 C4225339 TRPV3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25285920 -