Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.140 GeneticVariation disease BEFREE To our knowledge, this patient is the first to exhibit syndactyly and to carry a CACNA1C mutation but to not have QT prolongation, which has long been considered an obligatory feature of Timothy syndrome. 29736926 2018
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.140 GeneticVariation disease BEFREE Timothy syndrome (TS) is a congenital long QT syndrome that is associated with syndactyly and mutations in CACNA1C, encoding an L-type voltage-dependent calcium channel, Cav1.2. 27593853 2016
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.140 GeneticVariation disease BEFREE The proband with severe syndactyly and delayed language skills was identified harboring a G406R mutation in CACNA1C. 23580742 2013
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.140 GeneticVariation disease BEFREE The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy Syndrome (TS), a rare disorder characterized by cardiac arrhythmias and syndactyly, highlighted unexpected roles for the L-type voltage-gated Ca2+ channel CaV1.2 in nonexcitable cells. 23549079 2013
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.140 Biomarker disease HPO