NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
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.
Serpentine fibula polycystic kidney syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.030 None 1.000 3 2011 2014
CUI: C2930971
Disease: Acroosteolysis dominant type
Acroosteolysis dominant type
disease Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C1859366
Disease: Hypoplastic 5th lumbar vertebrae
Hypoplastic 5th lumbar vertebrae
phenotype Finding 1 0.100 None 0
CUI: C1863311
Disease: Elongated sella turcica
Elongated sella turcica
phenotype Finding 1 0.100 None 0
CUI: C1863313
Disease: Tall lumbar vertebral bodies
Tall lumbar vertebral bodies
phenotype Finding 1 0.100 None 0
CUI: C1863314
Disease: Cervical instability
Cervical instability
phenotype Finding 1 0.100 None 0
CUI: C1863317
Disease: Crowded carpal bones
Crowded carpal bones
phenotype Finding 1 0.100 None 0
CUI: C4021169
Disease: Partial absence of toe
Partial absence of toe
phenotype Finding 1 0.100 None 0
CUI: C4703714
Disease: Periocular capillary hemangioma
Periocular capillary hemangioma
disease Neoplasms Neoplastic Process 1 1 0.100 None 0 1
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 2 3 0.700 None 1.000 5 3 2006 2012
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 2 48 0.300 None 0
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 0
Lymphoepithelioma-Like Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C0522070
Disease: Pancreatic symptom
Pancreatic symptom
phenotype Sign or Symptom 5 0.010 None 1.000 1 2013 2013
Intraductal papillary-mucinous adenoma
disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2015 2015
CUI: C4025744
Disease: Foot acroosteolysis
Foot acroosteolysis
phenotype Pathologic Function 6 0.100 None 0
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 13 1.000 None 0.968 31 13 1996 2019
CUI: C0334584
Disease: Spongioblastoma
Spongioblastoma
disease Neoplasms Neoplastic Process 8 0.300 None 1.000 1 2010 2010
Cerebral Primitive Neuroectodermal Tumor
disease Neoplasms Neoplastic Process 9 0.300 None 1.000 1 2010 2010
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses
phenotype Finding 9 1 0.100 None 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia
phenotype Finding 11 2 0.100 None 0
CUI: C0206653
Disease: Angiomyoma
Angiomyoma
disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2013 2013
CUI: C0334596
Disease: Medulloepithelioma
Medulloepithelioma
disease Neoplasms Neoplastic Process 13 0.300 None 1.000 1 2010 2010
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
Neoplasm of uncertain or unknown behavior of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0