NOTCH1, notch 1, 4851

N. diseases: 389; N. variants: 34
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: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0.500 0
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplastic Process 282 228 0.300 0
Neoplasm of uncertain or unknown behavior of bladder
disease Neoplastic Process 15 0.300 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplastic Process 43 0.300 0
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder
disease Neoplastic Process 15 0.300 0
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder
disease Neoplastic Process 16 0.300 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 95 2 0.100 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 66 0.100 0
CUI: C1851119
Disease: Dilatation of the aortic arch
Dilatation of the aortic arch
phenotype Finding 7 0.100 0
CUI: C1860844
Disease: Thin, sparse hair
Thin, sparse hair
phenotype Sign or Symptom 95 0.100 0
CUI: C0018808
Disease: Heart murmur
Heart murmur
phenotype Pathological Conditions, Signs and Symptoms Finding 17 1 0.100 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 65 4 0.100 0
CUI: C1969292
Disease: Thoracic aorta calcification
Thoracic aorta calcification
phenotype Finding 4 0.100 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand
disease Congenital Abnormality 7 0.100 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0
Congenital atresia of pulmonary artery
disease Congenital Abnormality 16 3 0.100 0
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail
phenotype Finding 16 0.100 0
CUI: C0265989
Disease: Congenital scar
Congenital scar
disease Congenital Abnormality 17 0.100 0
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 24 1 0.100 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 252 7 0.100 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C1301937
Disease: Talipes
Talipes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 39 2 0.100 0
CUI: C0497247
Disease: Increase in blood pressure
Increase in blood pressure
phenotype Finding 173 14 0.100 0
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.100 0