SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
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.
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: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 112 10 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
phenotype Finding 67 4 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
disease Nervous System Diseases Disease or Syndrome 73 23 0.100 None 0 1
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype Anatomical Abnormality 104 131 0.100 None 0 1
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality 16 2 0.100 None 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination
phenotype Finding 32 6 0.100 None 0
Atrophy/Degeneration affecting the brainstem
disease Disease or Syndrome 27 2 0.100 None 0
Degenerative Diseases, Central Nervous System
group Nervous System Diseases Disease or Syndrome 43 0.300 None 1.000 1 2014 2014
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord
group Nervous System Diseases Disease or Syndrome 40 0.300 None 1.000 1 2014 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.300 None 1.000 1 2014 2014
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.110 None 1.000 1 2015 2015
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.110 None 1.000 1 1 2012 2012
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 5 2018 2018
Neonatal Systemic lupus erythematosus
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 1998 1998