SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Spastic paraplegia 4, autosomal dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 101 1.000 None 1.000 85 101 1991 2019
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.460 None 1.000 7 1 2002 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.400 None 0.991 108 4 2000 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.300 None 1.000 1 2017 2017
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.300 None 1.000 1 2017 2017
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.300 None 1.000 1 2017 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.200 None 1.000 14 3 1998 2018
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.170 None 1.000 7 2 1997 2009
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.170 None 1.000 7 2000 2018
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.160 None 1.000 6 1998 2011
CUI: C0030486
Disease: Paraplegia
Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 59 0.150 None 1.000 5 2002 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.110 None 1.000 21 3 1999 2016
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.110 None 1.000 1 2016 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2008 2008
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.100 None 1.000 91 5 2000 2019
Hereditary Autosomal Dominant Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.100 None 1.000 29 3 1999 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 21 1 1999 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 21 1 1999 2016
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
phenotype Laboratory Procedure 135 624 0.100 None 1.000 1 2 2014 2014
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture
phenotype Pathologic Function 12 23 0.100 None 1.000 1 1 2019 2019
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement
phenotype Laboratory Procedure 16 25 0.100 None 1.000 1 1 2017 2017
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.100 None 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0 1
CUI: C0234410
Disease: Physiologic disinhibition
Physiologic disinhibition
phenotype Organ or Tissue Function 23 0.100 None 0