ITM2B, integral membrane protein 2B, 9445

N. diseases: 77; N. variants: 3
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: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 10 1 0.800 limited 0.944 18 1 2000 2019
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
disease Disease or Syndrome 10 1 0.800 None 1.000 14 1 1999 2015
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
disease Disease or Syndrome 1 1 0.700 None 1.000 1 1 2014 2014
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 5 0.300 limited 1.000 1 2000 2000
CUI: C0270790
Disease: Quadriparesis
Quadriparesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 5 0.300 limited 1.000 1 2000 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.300 None 1.000 1 2012 2012
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.300 limited 1.000 1 2000 2000
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.300 limited 1.000 1 2000 2000
CUI: C0553692
Disease: Brain hemorrhage
Brain hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 10 0.300 limited 1.000 1 2000 2000
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.200 None 0.966 29 1999 2019
Familial Cerebral Amyloid Angiopathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 0.200 None 0
Cerebral Amyloid Angiopathy, Genetic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.200 None 0
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 2 0.200 None 0
Cerebral Amyloid Angiopathy, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 19 4 0.200 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.120 None 1.000 2 2014 2019
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.120 None 0.500 2 2008 2009
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.110 None 1.000 1 2005 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.917 24 2005 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.100 None 1.000 16 1999 2019
Neurofibrillary degeneration (morphologic abnormality)
phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 43 2 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype Finding 98 4 0.100 None 0