Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4036
Gene Symbol: LRP2
LRP2 		0.300 Biomarker disease CTD_human Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. 17632512 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.300 Biomarker disease CTD_human Myoclonic seizures in a patient with Charcot-Marie-tooth disease. 17275665 2007
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.300 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2 		0.300 Biomarker disease CTD_human A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731 2004
Entrez Id: 152330
Gene Symbol: CNTN4
CNTN4 		0.300 Biomarker disease CTD_human Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 Biomarker disease CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8 		0.300 Biomarker disease CTD_human X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. 11326334 2001
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 Biomarker disease CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 Biomarker disease CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998