CSTA, cystatin A, 1475

N. diseases: 97; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842797
Disease: Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like 		0.500 Biomarker disease CTD_human
CUI: C1842797
Disease: Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like 		0.500 Biomarker disease GENOMICS_ENGLAND
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
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.340 Biomarker phenotype BEFREE Competing risk analysis identified three genes that were downregulated differentially in the patients with brain metastases versus non-brain metastatic disease: CD37 (0.017), cystatin A (0.022), and IL-23A (0.027). 30854931 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.340 Biomarker phenotype BEFREE A significant positive relationship of stefin A and stefin B was found with node metastasis, tumor size, and Edmondson grade for HCC. 26753874 2016
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.340 GeneticVariation disease BEFREE However, more recently recessive loss of function mutations in CSTA, encoding cystatin A, have been linked with APSS and exfoliative ichthyosis. 26684698 2016
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.340 GeneticVariation disease BEFREE Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. 25400170 2015
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.340 GeneticVariation disease BEFREE Cystatin A is a protease inhibitor found in the cornified cell envelope, and loss-of-function mutations have previously been reported in two cases of exfoliative ichthyosis. 23534700 2014
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.340 GermlineCausalMutation disease ORPHANET Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor cystatin A (CSTA) as the underlying genetic cause of exfoliative ichthyosis. 21944047 2011
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.340 GeneticVariation disease BEFREE Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor cystatin A (CSTA) as the underlying genetic cause of exfoliative ichthyosis. 21944047 2011
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.340 Biomarker phenotype CTD_human Identification of candidate nasopharyngeal carcinoma serum biomarkers by cancer cell secretome and tissue transcriptome analysis: potential usage of cystatin A for predicting nodal stage and poor prognosis. 20461718 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.340 AlteredExpression phenotype BEFREE We propose that Stefin A, as a cysteine cathepsin inhibitor, may be a marker of increased cathepsin activity in metastases. 17985332 2008
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.340 AlteredExpression phenotype LHGDN We propose that Stefin A, as a cysteine cathepsin inhibitor, may be a marker of increased cathepsin activity in metastases. 17985332 2008
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.340 Biomarker phenotype BEFREE Our data strongly indicate that stefin A plays an important role in the growth, angiogenesis, invasion, and metastasis of human esophageal squamous cell carcinoma cells and suggest that stefin A may be useful in cancer therapy. 16361563 2005
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
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.310 Biomarker disease CTD_human In addition, a higher pretreated serum level of cystatin A was found to be associated with a higher nodal stage and poorer prognosis of NPC patients and cystatin A could modulate the migration and invasion of NPC cells in vitro. 20461718 2010
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.310 Biomarker disease BEFREE In addition, a higher pretreated serum level of cystatin A was found to be associated with a higher nodal stage and poorer prognosis of NPC patients and cystatin A could modulate the migration and invasion of NPC cells in vitro. 20461718 2010
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.300 Biomarker disease CTD_human The regulation of cysteine cathepsins and cystatins in human gliomas. 22287159 2012
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation 		0.300 Biomarker phenotype CTD_human The regulation of cysteine cathepsins and cystatins in human gliomas. 22287159 2012
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		0.300 Biomarker disease CTD_human The regulation of cysteine cathepsins and cystatins in human gliomas. 22287159 2012