Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
0.300 Biomarker phenotype CTD_human Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report. 25664129 2014
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.300 Biomarker phenotype CTD_human Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis. 23789114 2013
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
0.300 Biomarker phenotype CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
Entrez Id: 79042
Gene Symbol: TSEN34
TSEN34
0.300 Biomarker phenotype CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
Entrez Id: 80746
Gene Symbol: TSEN2
TSEN2
0.300 Biomarker phenotype CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
0.300 Biomarker phenotype CTD_human Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 10896705 2000