TBC1D23, TBC1 domain family member 23, 55773

N. diseases: 33; N. variants: 4
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553731603
rs1553731603
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
CUI: C4540164
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 11 		A 0.700 CausalMutation CLINVAR