Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.400 Biomarker CTD_human Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment. 12427913

2002

Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.400 Biomarker CTD_human Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 10896705

2000

Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.300 Biomarker CTD_human Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report. 25664129

2014

Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.300 Therapeutic CTD_human The β2 nicotinic acetylcholine receptor subunit differentially influences ethanol behavioral effects in the mouse. 23419392

2013

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.300 Biomarker CTD_human 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. 10407778

1999