Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
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
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		0.300 Biomarker disease CTD_human Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4 		0.300 Biomarker disease CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
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: 10617
Gene Symbol: STAMBP
STAMBP 		0.300 Biomarker disease CTD_human Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699 2013
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.300 Biomarker disease CTD_human Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370 2016
Entrez Id: 57705
Gene Symbol: WDFY4
WDFY4 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019