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.
CUI: C0033893
Disease: Tension Headache
Tension Headache 		disease Nervous System Diseases Disease or Syndrome 12 6 0.100 None 0 1
CUI: C0751014
Disease: Subcortical Infarction
Subcortical Infarction 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 13 0.020 None 1.000 2 2009 2015
CUI: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0021308
Disease: Infarction
Infarction 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 0.200 None 1.000 1 2002 2002
CUI: C0278619
Disease: Extramedullary Plasmacytoma
Extramedullary Plasmacytoma 		disease Neoplasms; Immune System Diseases Neoplastic Process 15 0.010 None 1.000 1 2003 2003
CUI: C0854776
Disease: Pancreatic carcinoma non-resectable
Pancreatic carcinoma non-resectable 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 15 0.010 None 1.000 1 2013 2013
CUI: C0854107
Disease: Subcutaneous hemorrhage
Subcutaneous hemorrhage 		disease Skin and Connective Tissue Diseases Disease or Syndrome 16 0.100 None 0
CUI: C1851712
Disease: Dural ectasia
Dural ectasia 		phenotype Finding 16 1 0.100 None 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		phenotype Finding 16 0.100 None 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Neoplastic Process 17 1 0.010 None 1.000 1 2005 2005
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C0017653
Disease: Glomus Tumor
Glomus Tumor 		disease Neoplasms Neoplastic Process 18 5 0.010 None 1.000 1 2013 2013
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		disease Neoplasms Disease or Syndrome 18 10 0.610 None 1.000 1 2013 2013
CUI: C0032209
Disease: Platybasia
Platybasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 0.100 None 0
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease Neoplasms Neoplastic Process 19 7 0.410 None 1.000 1 2013 2013
CUI: C1301359
Disease: Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma
Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 20 0.010 None 1.000 1 2006 2006
CUI: C2931672
Disease: Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 2014 2014
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 20 1 0.100 None 0
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		phenotype Finding 20 19 0.100 None 0 1
CUI: C0347509
Disease: Benign neoplasm of central nervous system
Benign neoplasm of central nervous system 		group Neoplasms; Nervous System Diseases Neoplastic Process 21 0.100 None 0
CUI: C1852242
Disease: Nonarteritic anterior ischemic optic neuropathy (NAION)
Nonarteritic anterior ischemic optic neuropathy (NAION) 		disease Disease or Syndrome 22 6 0.100 None 0
CUI: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		phenotype Finding 23 0.100 None 0
CUI: C3178801
Disease: Stroke, Lacunar
Stroke, Lacunar 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 24 11 0.040 None 0.750 4 1 2003 2015
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		disease Nervous System Diseases Disease or Syndrome 24 17 0.030 None 1.000 3 1993 2019