Pachyonychia congenita

Disease Term Disease ID Gene Symbol Classification References Source
Pachyonychia congenita 2309 KRT16 Causal Pathogenic evidence from ClinVar - ClinVar
KRT6A Causal Pathogenic evidence from ClinVar - ClinVar
KRT6B Causal Pathogenic evidence from ClinVar - ClinVar
KRT17 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pachyonychia Congenita C0265334 KRT16 Causal Pathogenic evidence from ClinVar - ClinVar
KRT6A Causal Pathogenic evidence from ClinVar - ClinVar
KRT6B Causal Pathogenic evidence from ClinVar - ClinVar
KRT10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7508181, 25495838 -
KRT17 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pachyonychia Congenita, Jadassohn Lewandowsky Type C1706595 KRT16 Causal Pathogenic evidence from ClinVar 7539673, 10521820, 10606845, 10839714, 11359398, 11886499, 16250206, 17719747, 21160496, 21326300, 22668561, 24118415 ClinVar
KRT6A Causal Pathogenic evidence from ClinVar 22098151 ClinVar
KRT6B Causal Pathogenic evidence from ClinVar - ClinVar
KRT17 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pachyonychia Congenita, Type 2 (disorder) C1721007 KRT16 Causal Pathogenic evidence from ClinVar - ClinVar
KRT6A Causal Pathogenic evidence from ClinVar - ClinVar
KRT6B Causal Pathogenic evidence from ClinVar - ClinVar
KRT17 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7539673, 8288793, 9008238, 9767294, 10571744, 11348474, 11874497, 11886499, 15102078, 15795125, 16250206, 16620218, 16625196, 17719747, 18547302, 19470054, 19659471, 21326300, 22336949, 23278621, 23855588 -
PACHYONYCHIA CONGENITA 3 C3714948 KRT6A Causal Pathogenic evidence from ClinVar 7545493, 10232400, 11886499, 15387942, 15840119, 16250206, 17309457, 17719747, 18489596, 19416275, 21326300, 22668561 ClinVar
PACHYONYCHIA CONGENITA 4 C3714949 KRT6B Causal Pathogenic evidence from ClinVar 9618173, 16250204, 16250206, 21326300 ClinVar