Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
CUI: C1865864
Disease: AMYOTROPHIC LATERAL SCLEROSIS 5
AMYOTROPHIC LATERAL SCLEROSIS 5
0.600 Biomarker GENOMICS_ENGLAND SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 20110243

2010

Entrez Id: 80208
Gene Symbol: SPG11
SPG11
CUI: C1865864
Disease: AMYOTROPHIC LATERAL SCLEROSIS 5
AMYOTROPHIC LATERAL SCLEROSIS 5
0.600 Biomarker GENOMICS_ENGLAND SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956

2009