rs199473681, CTC1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
0.700 GeneticVariation UNIPROT Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 22387016 2012
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
0.700 GeneticVariation UNIPROT Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 22267198 2012