Timothy syndrome

Disease Term Disease ID Gene Symbol Classification References Source
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