Source: CURATED

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
Spastic paraplegia 4, autosomal dominant
disease 1.000 None 1.000 46 100 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 1 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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group 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
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.300 None 0 0