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: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		disease 1.000 None 1.000 4 0 1991 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.460 None 1.000 1 0 2002 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.300 None 1.000 1 0 2017 2017