CYS1, cystin 1, 192668

N. diseases: 12; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 Biomarker disease BEFREE We previously identified Cys1 as the gene responsible for disease in Cys1(cpk) mice, a mouse model of autosomal recessive polycystic kidney disease; this gene encodes cystin, a 145-amino acid cilium-associated protein. 19850956 2009
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 Biomarker disease MGD Development of autosomal recessive polycystic kidney disease in BALB/c-cpk/cpk mice. 11004214 2000
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 Biomarker disease MGD Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene. 8800407 1996
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 Biomarker disease MGD Autosomal recessive polycystic kidney disease in a murine model. A gross and microscopic description. 3404974 1988
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 Biomarker disease MGD A genetically determined murine model of infantile polycystic kidney disease. 4032601 1985
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 Biomarker disease MGD Congenital polycystic kidney disease. Genetically transmitted infantile polycystic kidney disease in C57BL/6J mice. 6624875 1983
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.210 Biomarker disease MGD Murine congenital polycystic kidney disease: a model for studying development of cystic disease. 7062441 1982
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		0.100 GeneticVariation disease GWASCAT Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. 25241909 2014
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.100 GeneticVariation disease GWASCAT Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. 25241909 2014
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.010 Biomarker disease BEFREE Among the top folate-associated genes that were replicated in an independent Gambian study were TFAP2A, a gene critical for neural crest development, STX11, a gene implicated in acute myeloid leukemia, and CYS1, a candidate gene for cystic kidney disease. 26646725 2015
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.010 Biomarker disease BEFREE Among the top folate-associated genes that were replicated in an independent Gambian study were TFAP2A, a gene critical for neural crest development, STX11, a gene implicated in acute myeloid leukemia, and CYS1, a candidate gene for cystic kidney disease. 26646725 2015
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.010 Biomarker group BEFREE Among the top folate-associated genes that were replicated in an independent Gambian study were TFAP2A, a gene critical for neural crest development, STX11, a gene implicated in acute myeloid leukemia, and CYS1, a candidate gene for cystic kidney disease. 26646725 2015
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.010 Biomarker phenotype BEFREE We found down-regulation of kidney epithelial restricted genes (e.g. nephron segment-specific markers and cilia-associated cystic genes such as HNF1B, PKHD1, IFT88 and CYS1) in the renal cysts. 19346236 2009
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.010 GeneticVariation disease BEFREE No mutations in known NPHP genes or in the candidate genes, BCL2 and CYS1, were found sufficient to explain NPHP in affected individuals. 17061121 2007
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 GeneticVariation disease BEFREE We studied affected individuals of eight families with nephronophthisis and liver fibrosis for evidence of CYS1 mutations. 12733055 2003
CUI: C4274018
Disease: Boichis syndrome
Boichis syndrome 		0.010 GeneticVariation disease BEFREE Identification of the human CYS1 gene and candidate gene analysis in Boichis disease. 12733055 2003