TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.100 CausalMutation phenotype CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.100 CausalMutation phenotype CLINVAR Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy. 27502353 2016
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.100 GeneticVariation phenotype CLINVAR TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 27281533 2016
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.100 GeneticVariation phenotype CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014