Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
CUI: C4540164
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
PONTOCEREBELLAR HYPOPLASIA, TYPE 11 		0.600 GeneticVariation UNIPROT Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 28823707

2017
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
CUI: C4540164
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
PONTOCEREBELLAR HYPOPLASIA, TYPE 11 		0.600 GeneticVariation UNIPROT Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. 28823706

2017