Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 GeneticVariation disease CLINVAR Pathogenic CTC1 mutations cause global genome instabilities under replication stress. 29481669 2018
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 CausalMutation disease CLINVAR Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. 23869908 2013
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 GeneticVariation disease CLINVAR Molecular basis of telomere syndrome caused by CTC1 mutations. 24115768 2013
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 CausalMutation disease CLINVAR Mutations in the telomere capping complex in bone marrow failure and related syndromes. 22899577 2013
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 CausalMutation disease CLINVAR Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 22267198 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 GeneticVariation disease UNIPROT Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 22267198 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 GeneticVariation disease UNIPROT Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 22387016 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 GeneticVariation disease CLINVAR Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 22387016 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 CausalMutation disease CLINVAR Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 22387016 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 22267198 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 Biomarker disease GENOMICS_ENGLAND CTC1 Mutations in a patient with dyskeratosis congenita. 22532422 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 22387016 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 CausalMutation disease CLINVAR CTC1 Mutations in a patient with dyskeratosis congenita. 22532422 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 22267198 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 GeneticVariation disease CLINVAR Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 22267198 2012
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.600 Biomarker disease GENOMICS_ENGLAND