Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.300 Biomarker group CTD_human Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. 20098342 2010
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		0.300 Biomarker group CTD_human Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. 19732866 2009
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		0.300 Biomarker group CTD_human Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 18628313 2008
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		0.300 Biomarker group CTD_human 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. 10407778 1999
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.300 Biomarker group CTD_human Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. 8955270 1996
Entrez Id: 7416
Gene Symbol: VDAC1
VDAC1 		0.300 Biomarker group CTD_human Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. 8726225 1996
Entrez Id: 1392
Gene Symbol: CRH
CRH 		0.300 Therapeutic group CTD_human Critical role of endogenous corticotropin-releasing factor (CRF) in the mediation of the behavioral action of cocaine in rats. 1335535 1992