Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.110 GeneticVariation phenotype BEFREE In continuation with this observation, we analyzed a small cohort of 39 patients with HD phenocopy syndrome and detected the C9orf72 expansion in one female patient (2.6%) with two-year lasting mild generalized chorea and severe oro-bucco-lingual dyskinesia, who complained on forgetfullness (neuropsychological testing revealed dysexecutive syndrome with preserved episodic memory and recognition), unexplainable fears and increased appetite. 25034271 2014
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.110 Biomarker phenotype HPO