Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473677
rs199473677
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CUI: C2677299
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		A 0.700 CausalMutation CLINVAR Clinical utility gene card for: Dyskeratosis congenita - update 2015. 25182133 2015
dbSNP: rs199473677
rs199473677
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CUI: C2677299
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		A 0.700 CausalMutation CLINVAR Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. 23869908 2013
dbSNP: rs199473677
rs199473677
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CUI: C2677299
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		A 0.700 CausalMutation CLINVAR Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 22387016 2012
dbSNP: rs199473677
rs199473677
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CUI: C2677299
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		A 0.700 CausalMutation CLINVAR Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 22267198 2012
dbSNP: rs1444923772
rs1444923772
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CUI: C2677299
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs199473679
rs199473679
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CUI: C2677299
Disease:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		A 0.700 GeneticVariation CLINVAR