TBC1D23, TBC1 domain family member 23, 55773

N. diseases: 33; N. variants: 4
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540164
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
PONTOCEREBELLAR HYPOPLASIA, TYPE 11 		0.600 Biomarker disease GENOMICS_ENGLAND Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 28397838 2018
CUI: C4540164
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
PONTOCEREBELLAR HYPOPLASIA, TYPE 11 		0.600 GeneticVariation disease UNIPROT Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 28823707 2017
CUI: C4540164
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
PONTOCEREBELLAR HYPOPLASIA, TYPE 11 		0.600 GeneticVariation disease UNIPROT Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. 28823706 2017
CUI: C4540164
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
PONTOCEREBELLAR HYPOPLASIA, TYPE 11 		0.600 CausalMutation disease CLINVAR