Source: ALL

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 85 101 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 7 1 2002 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease 0.400 None 0.991 108 4 2000 2019
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: 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
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
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.200 None 1.000 14 3 1998 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype 0.170 None 1.000 7 2 1997 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.170 None 1.000 7 0 2000 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.160 None 1.000 6 0 1998 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0030486
Disease: Paraplegia
Paraplegia 		disease 0.150 None 1.000 5 0 2002 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.110 None 1.000 21 3 1999 2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 1 0 2008 2008
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		disease 0.100 None 1.000 91 5 2000 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		disease 0.100 None 1.000 29 3 1999 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 21 1 1999 2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 21 1 1999 2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		phenotype 0.100 None 1.000 1 2 2014 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		disease 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0234410
Disease: Physiologic disinhibition
Physiologic disinhibition 		phenotype 0.100 None 0 0