NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
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.
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
disease Disease or Syndrome 1 44 0.800 None 1.000 45 44 1997 2016
CUI: C0344487
Disease: Lateral meningocele
Lateral meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality 1 0.310 None 1.000 2 2015 2016
CUI: C0264954
Disease: Arteriovascular degeneration
Arteriovascular degeneration
disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1142239
Disease: Call-Fleming syndrome
Call-Fleming syndrome
disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C1399357
Disease: Hemiparaesthesia
Hemiparaesthesia
phenotype Sign or Symptom 1 1 0.010 None 1.000 1 1 2005 2005
CUI: C0948347
Disease: Nephroangiosclerosis
Nephroangiosclerosis
disease Disease or Syndrome 2 0.020 None 1.000 2 2008 2011
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2
disease Disease or Syndrome 2 7 0.600 limited 1.000 1 7 2013 2013
CUI: C1449626
Disease: CADASILM
CADASILM
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 0
CUI: C1854689
Disease: Short nasal bridge
Short nasal bridge
phenotype Finding 2 0.100 None 0
CUI: C4024918
Disease: Recurrent subcortical infarcts
Recurrent subcortical infarcts
disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C4024935
Disease: Subcortical dementia
Subcortical dementia
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3 2 0.110 None 1.000 1 2015 2015
CUI: C0018946
Disease: Hematoma, Subdural
Hematoma, Subdural
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Pathologic Function 3 1 0.100 None 0
CUI: C0270786
Disease: Binswanger Disease
Binswanger Disease
disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 4 0.030 None 0.667 3 1999 2014
CUI: C0151293
Disease: Chronic Headache
Chronic Headache
disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2015 2015
Abnormality of the middle ear ossicles
phenotype Finding 5 1 0.100 None 0
CUI: C0393561
Disease: Subcortical Vascular Dementia
Subcortical Vascular Dementia
disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 8 0.020 None 1.000 2 2004 2015
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 13 0.010 None 1.000 1 2015 2015
CUI: C1851714
Disease: Sclerosis of skull base
Sclerosis of skull base
phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C0155305
Disease: Optic Neuropathy, Ischemic
Optic Neuropathy, Ischemic
disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 0.010 None 1.000 1 2004 2004
CUI: C0596298
Disease: Cerebrovascular Occlusion
Cerebrovascular Occlusion
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C0596452
Disease: disabling disease
disabling disease
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 1 0.010 None 1.000 1 2017 2017
CUI: C1281300
Disease: Vascular degeneration
Vascular degeneration
disease Cardiovascular Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2010 2010
CUI: C0025299
Disease: Meningocele
Meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2020 2020
CUI: C0242129
Disease: Thrombotic stroke
Thrombotic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2009 2009
CUI: C0751007
Disease: Intracranial Atherosclerosis
Intracranial Atherosclerosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2015 2015