Timothy syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ATYPICAL TIMOTHY SYNDROME
595109C5575746
CACNA1C Unknown
34079780
Disgenet, Orphanet
TIMOTHY SYNDROME
601005C1832916MESH:C536962MONDO:0010979
CACNA1C Causal
15454078 28211989 25633834 15863612 22106044 26253506 24728418 31983240 30681346 33797204 16360093
CTD, ClinGen, ClinVar, Disgenet, HPO
TIMOTHY SYNDROME TYPE 1
595098C5574939
CACNA1C Unknown
15454078
Disgenet, Orphanet
TIMOTHY SYNDROME TYPE 2
595105C4304347
CACNA1C Unknown
34079780
Disgenet, Orphanet, ClinGen
All1 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Timothy syndrome.
5 View disease cluster →
Concentric hypertrophic cardiomyopathy 1 shared geneCACNA1C Related via 1 shared gene including CACNA1C. Short qt syndrome 1 shared geneCACNA1C Related via 1 shared gene including CACNA1C. Polymorphic catecholaminergic ventricular tachycardia 1 shared geneCACNA1C Related via 1 shared gene including CACNA1C. Congenital anomaly of limb 1 shared geneCACNA1C Related via 1 shared gene including CACNA1C. Restrictive cardiomyopathy 1 shared geneCACNA1C Related via 1 shared gene including CACNA1C.