STN1, STN1 subunit of CST complex, 79991

N. diseases: 82; N. variants: 19
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479220
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 		0.600 GeneticVariation disease UNIPROT Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. 27432940 2016
CUI: C4479220
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. 27432940 2016
CUI: C4479220
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 		0.600 CausalMutation disease CLINVAR