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: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 4 0.600 None 1.000 3 4 2000 2013
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.710 None 1.000 2 1 2003 2013
CUI: C0040409
Disease: Tongue Diseases
Tongue Diseases 		group Stomatognathic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0376699
Disease: Teeth, Endodontically-Treated
Teeth, Endodontically-Treated 		disease Stomatognathic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0432124
Disease: Unicoronal craniosynostosis
Unicoronal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 3 0.010 None 1.000 1 2013 2013
CUI: C1290514
Disease: Familial hypodontia
Familial hypodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 2 0.010 None 1.000 1 1995 1995
CUI: C1865045
Disease: Symmetrical, oval parietal bone defects
Symmetrical, oval parietal bone defects 		phenotype Finding 2 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: C0149746
Disease: Orthostasis
Orthostasis 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 0.010 None 1.000 1 2018 2018
CUI: C0235982
Disease: Stricture of bile duct
Stricture of bile duct 		disease Digestive System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2011 2011
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis 		disease Anatomical Abnormality 5 1 0.110 None 1.000 1 2013 2013
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		disease Congenital Abnormality 6 1 0.100 None 0
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: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 9 2 0.100 None 0
CUI: C1849300
Disease: Widely patent fontanelles and sutures
Widely patent fontanelles and sutures 		phenotype Finding 17 0.100 None 0
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 18 0.300 None 1.000 1 2006 2006
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 5 0.850 None 1.000 8 1 2000 2006
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 21 5 0.010 None 1.000 1 2001 2001
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 22 2 0.010 None 1.000 1 2019 2019
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.010 None 1.000 1 2011 2011
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		disease Anatomical Abnormality 22 0.010 None 1.000 1 2000 2000
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 1 0.800 None 1.000 14 1 1993 2013
CUI: C4551722
Disease: Encephalocele
Encephalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 23 7 0.010 None 1.000 1 2001 2001
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 25 7 0.020 None 1.000 2 2006 2009
CUI: C0426807
Disease: Short clavicle
Short clavicle 		phenotype Finding 26 0.100 None 0