CSTA, cystatin A, 1475

N. diseases: 97; N. variants: 6
Disease: Peeling skin syndrome, acral type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853354
Disease: Peeling skin syndrome, acral type
Peeling skin syndrome, acral type 		0.310 GermlineCausalMutation disease ORPHANET We describe the clinical features in two sisters with APSS, associated with a novel large homozygous deletion encompassing exon 1 of CSTA. 26684698 2016
CUI: C1853354
Disease: Peeling skin syndrome, acral type
Peeling skin syndrome, acral type 		0.310 GeneticVariation disease BEFREE We describe the clinical features in two sisters with APSS, associated with a novel large homozygous deletion encompassing exon 1 of CSTA. 26684698 2016