Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 401474
Gene Symbol: SAMD12
SAMD12
0.300 Biomarker disease CTD_human Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 29507423 2018
Entrez Id: 27327
Gene Symbol: TNRC6A
TNRC6A
0.300 Biomarker disease CTD_human Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 29507423 2018
Entrez Id: 9693
Gene Symbol: RAPGEF2
RAPGEF2
0.300 Biomarker disease CTD_human Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 29507423 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.300 Biomarker disease CTD_human Therapy for hyperthermia-induced seizures in Scn1a mutant rats. 21480876 2011
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.300 Biomarker disease CTD_human De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
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: 5443
Gene Symbol: POMC
POMC
0.300 Therapeutic disease CTD_human Cardiac hypertrophy secondary to ACTH treatment in children. 6088243 1984
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.300 Biomarker disease CTD_human