Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57132
Gene Symbol: CHMP1B
CHMP1B
0.030 GeneticVariation disease BEFREE Recently, mutations in five genes (HSD17B4, HARS2, CLPP, LARS2 and C10ORF2) were found to be responsible for Perrault syndrome, although they do not account for all cases of this genetically heterogeneous condition. 26657938 2016
Entrez Id: 57132
Gene Symbol: CHMP1B
CHMP1B
0.030 Biomarker disease BEFREE HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS. 27087618 2016
Entrez Id: 57132
Gene Symbol: CHMP1B
CHMP1B
0.030 Biomarker disease BEFREE Mutations in five genes, HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS. 25956234 2015