Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome
0.200 Biomarker disease MGD
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 AlteredExpression disease BEFREE RABGGTA was significantly upregulated in total MS patients, total male patients, female patients aged between 30 and 40 and male patients aged >40 compared with corresponding control groups. 29574663 2018
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome
0.010 GeneticVariation disease BEFREE This prompted reanalysis of the 5'-untranslated structure of the human RABGGTA gene in normal individuals and in patients with deficiencies of platelet-dense granules (alphadelta-SPD), alpha granules (alpha-SPD or gray platelet syndrome, GPS) or alpha plus dense granules (alphadelta-SPD). 11136552 2000