MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
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: C0740302
Disease: 5q-syndrome
5q-syndrome
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 45 1 0.010 None 1.000 1 2007 2007
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2019 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2013 2013
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.010 None 1.000 1 2006 2006
Amputated structure (morphologic abnormality)
phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2017 2017
CUI: C0002902
Disease: Anencephaly
Anencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 59 10 0.010 None 1.000 1 2001 2001
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.010 None 1.000 1 2008 2008
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2011 2011
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2018 2018
CUI: C1855698
Disease: Aplasia cutis congenita of scalp
Aplasia cutis congenita of scalp
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 7 0.100 None 0
CUI: C4021084
Disease: Aplasia of optic nerve
Aplasia of optic nerve
phenotype Congenital Abnormality 3 0.010 None 1.000 1 2015 2015
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 91 16 0.010 None 1.000 1 2019 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2019 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2019 2019
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2018 2018
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders
group Mental Disorders Mental or Behavioral Dysfunction 77 4 0.010 None 1.000 1 2019 2019
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis
disease Congenital Abnormality 6 1 0.100 None 0
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 9 2 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.030 None 1.000 3 2005 2010
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect
disease Anatomical Abnormality 22 0.010 None 1.000 1 2000 2000
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2004 2008
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2003 2003
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 2018 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2018 2018
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 1999 1999