CSTA, cystatin A, 1475

N. diseases: 97; N. variants: 6
Disease: PEELING SKIN SYNDROME 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		0.410 Biomarker disease GENOMICS_ENGLAND Acral peeling skin syndrome associated with a novel CSTA gene mutation. 26684698 2016
CUI: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		0.410 GeneticVariation disease BEFREE Candidate gene analysis revealed a previously unknown homozygous loss-of-function mutation c.172C>T (p.Arg58Ter) in CSTA, and immunostaining showed absence of epidermal cystatin A, confirming the diagnosis of AREI. 25400170 2015
CUI: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. 21944047 2011
CUI: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. 21944047 2011
CUI: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		0.410 CausalMutation disease CLINVAR