Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		disease 1.000 None 1.000 5 0 1962 2017
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease 1.000 definitive 0.979 4 0 1962 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.400 None 1.000 1 0 2000 2000
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 moderate 0 0