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: 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: 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: 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: 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: 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: 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: 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: C3711371
Disease: Spastic Paraplegia Type 4
Spastic Paraplegia Type 4 		disease 0.090 None 1.000 9 0 2011 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		disease 0.080 None 1.000 8 0 1996 2006
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: 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: C0011265
Disease: Presenile dementia
Presenile dementia 		disease 0.060 None 1.000 6 0 1998 2011
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.060 None 0.833 6 0 1996 2018
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: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.030 None 1.000 3 0 1998 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group 0.030 None 1.000 3 0 1998 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0393555
Disease: Pure hereditary spastic paraplegia
Pure hereditary spastic paraplegia 		disease 0.030 None 1.000 3 0 2001 2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0221166
Disease: Paraparesis
Paraparesis 		phenotype 0.030 None 1.000 3 0 2000 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease 0.020 None 1.000 2 0 2011 2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease 0.020 None 1.000 2 0 2011 2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.020 None 1.000 2 0 2000 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease 0.020 None 1.000 2 0 2011 2015