MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
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: C0406716
Disease: Hypodontia and nail dysgenesis
Hypodontia and nail dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 1 0.300 None 1.000 1 2001 2001
TOOTH AGENESIS, SELECTIVE, 2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C3554113
Disease: Thin toenail
Thin toenail
disease Anatomical Abnormality 1 0.100 None 0
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 5 0.700 None 1.000 3 5 2003 2014
CUI: C1290514
Disease: Familial hypodontia
Familial hypodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 2 0.020 None 1.000 2 1995 2011
CUI: C4317218
Disease: Cleft secondary palate
Cleft secondary palate
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Acquired Abnormality 2 0.020 None 1.000 2 1994 2002
CUI: C1856203
Disease: Microdontia of primary teeth
Microdontia of primary teeth
phenotype Finding 2 0.100 None 0
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 3 2 0.710 None 1.000 1 2 2001 2001
Congenital abnormality of Eustachian tube
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.100 None 0
CUI: C1298692
Disease: Cleft lip and alveolus
Cleft lip and alveolus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 4 0.300 None 0
CUI: C4023357
Disease: Maternal teratogenic exposure
Maternal teratogenic exposure
phenotype Finding 5 1 0.100 None 0
CUI: C4025062
Disease: Supernumerary maxillary incisor
Supernumerary maxillary incisor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 5 0.100 None 0
CUI: C4025215
Disease: Disturbance of facial expression
Disturbance of facial expression
phenotype Finding 5 0.100 None 0
CUI: C4316811
Disease: Abnormality of the nasal septum
Abnormality of the nasal septum
phenotype Anatomical Abnormality 5 1 0.100 None 0
CUI: C1855794
Disease: Bamforth syndrome
Bamforth syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2011 2011
Bisphosphonate-associated osteonecrosis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2010 2010
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 0.300 None 1.000 1 2003 2003
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs
phenotype Anatomical Abnormality 8 1 0.010 None 1.000 1 2016 2016
CUI: C0150993
Disease: Pitting of nails
Pitting of nails
phenotype Skin and Connective Tissue Diseases Finding 8 0.100 None 0
CUI: C0392005
Disease: Bilateral cleft lip
Bilateral cleft lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 8 1 0.100 None 0
CUI: C1849392
Disease: Ridged fingernail
Ridged fingernail
phenotype Finding 9 0.100 None 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth
phenotype Anatomical Abnormality 9 0.100 None 0
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 13 0.720 None 1.000 5 5 1996 2017
CUI: C0524730
Disease: Odontome
Odontome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 0.300 None 1.000 1 2003 2003
CUI: C0679136
Disease: Low self-esteem
Low self-esteem
phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0