TBC1D23, TBC1 domain family member 23, 55773

N. diseases: 33; N. variants: 4
Disease: Pontoneocerebellar hypoplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553730872
rs1553730872
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
CUI: C1261175
Disease:
Pontoneocerebellar hypoplasia 		C 0.700 CausalMutation CLINVAR Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 28823707 2017
dbSNP: rs1553730885
rs1553730885
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
CUI: C1261175
Disease:
Pontoneocerebellar hypoplasia 		AA 0.700 CausalMutation CLINVAR Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 28823707 2017
dbSNP: rs1553731605
rs1553731605
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
CUI: C1261175
Disease:
Pontoneocerebellar hypoplasia 		G 0.700 CausalMutation CLINVAR Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 28823707 2017