Disease Term Disease ID Gene Symbol Classification References Source
PEELING SKIN SYNDROME C1849193 CDSN Causal Pathogenic evidence from ClinVar 20691404, 23957618 ClinVar
SERPINB8 Causal Pathogenic evidence from ClinVar - ClinVar
TGM5 Causal Pathogenic evidence from ClinVar - ClinVar
CHST8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PHF21A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30487643 -
PSORS1C1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Peeling skin syndrome type B 263553 CDSN Causal Pathogenic evidence from ClinVar - ClinVar
PEELING SKIN SYNDROME 4 C4225407 CSTA Causal Pathogenic evidence from ClinVar 21944047, 26684698 ClinVar
Peeling skin syndrome, acral type C1853354 CSTA Causal Pathogenic evidence from ClinVar 26684698 ClinVar
TGM5 Causal Pathogenic evidence from ClinVar 9767297, 16380904, 20164844, 22036214, 22622422, 24019772, 24628291, 25644735, 26707537, 29242947 ClinVar
PEELING SKIN SYNDROME 3 C4015729 FLG2 Causal Pathogenic evidence from ClinVar 28884927 ClinVar
CHST8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22289416 -
PEELING SKIN SYNDROME 6 C4748093 FLG2 Causal Pathogenic evidence from ClinVar 28884927 ClinVar
CHST8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22289416 -
FLG-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Peeling skin syndrome type A 263548 FLG2 Causal Pathogenic evidence from ClinVar - ClinVar
CHST8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEELING SKIN SYNDROME 5 C4310710 SERPINB8 Causal Pathogenic evidence from ClinVar 27476651 ClinVar
HMSD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -