Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770896677
rs770896677
Entrez Id: 160418
Gene Symbol: TMTC3
TMTC3
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Using exome sequencing, we identified compound heterozygous variants (p.Arg71His and p. Leu729ThrfsTer6) in TMTC3, encoding transmembrane and tetratricopeptide repeat containing 3, in four siblings with nocturnal seizures and ID. 28973161 2017