GORAB, golgin, RAB6 interacting, 92344

N. diseases: 60; N. variants: 7
Disease: Osteoporosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.410 GeneticVariation disease BEFREE Gerodermia osteodysplastica (GO) is a segmental progeroid disorder caused by loss-of-function mutations in the GORAB gene, associated with early onset osteoporosis and bone fragility. 29108851 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.410 Biomarker disease CTD_human Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 18997784 2008
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.410 Biomarker disease HPO