Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
0.300 Biomarker phenotype CTD_human Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder. 29031482 2018
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
0.300 Biomarker phenotype CTD_human Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein. 23064757 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
0.300 Biomarker phenotype CTD_human Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC). 22815746 2012
Entrez Id: 2668
Gene Symbol: GDNF
GDNF
0.300 Therapeutic phenotype CTD_human Intrastriatal transplantation of GDNF-engineered BMSCs and its neuroprotection in lactacystin-induced Parkinsonian rat model. 19894114 2010
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.300 Biomarker phenotype CTD_human Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. 16565358 2006
Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1
0.300 Biomarker phenotype CTD_human Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. 4673339 1972
Entrez Id: 7161
Gene Symbol: TP73
TP73
0.200 Biomarker phenotype CTD_mouse TAp73 knockout mice show morphological and functional nervous system defects associated with loss of p75 neurotrophin receptor. 24190996 2013