Disease: Timothy syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND A multicentre study of patients with Timothy syndrome. 28371864 2018
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GeneticVariation disease UNIPROT Through expanded whole exome sequencing, we identified a novel genetic substrate for TS, p.Ile1166Thr-CACNA1C. 25260352 2015
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome. 26253506 2015
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GeneticVariation disease UNIPROT Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome. 26253506 2015
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants. 24728418 2014
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GeneticVariation disease UNIPROT Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612 2005
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease CTD_human Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GeneticVariation disease UNIPROT Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004