GJC2, gap junction protein gamma 2, 57165

N. diseases: 115; N. variants: 20
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.010 Biomarker disease BEFREE Supportive therapy for patients with PMD/SPG2 and PMLD1/SPG44 includes medications for seizures and spasticity; physical therapy, exercise, and orthotics for spasticity management; surgery for contractures and scoliosis; gastrostomy for severe dysphagia; proper wheelchair seating, physical therapy, and orthotics to prevent or ameliorate the effects of scoliosis; special education; and assistive communication devices. 22422208 2012