Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
0.430 Biomarker GENOMICS_ENGLAND A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 29528531

2018

Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
0.430 Biomarker GENOMICS_ENGLAND Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017

Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
0.430 Biomarker GENOMICS_ENGLAND The critical role of membralin in postnatal motor neuron survival and disease. 25977983

2015

Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
0.430 Biomarker GENOMICS_ENGLAND Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 23109145

2012