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: 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: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
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
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.700 None 0.929 42 4 1994 2020
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.700 strong 1.000 14 3 2003 2019
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: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 41 15 0.540 None 0.714 7 1994 2016
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.500 None 0.963 27 2 1994 2020
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.500 None 1.000 18 1 1994 2013
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.400 None 1.000 18 1 1994 2013
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.400 None 1.000 11 1 2003 2020
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 34 2 0.330 None 1.000 3 1990 2015
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.310 None 1.000 4 2002 2003
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.310 None 1.000 2 2006 2015
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: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.300 None 1.000 1 2003 2003
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.300 None 1.000 1 2006 2006
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 1 2006 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.300 None 1.000 1 2016 2016
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: 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
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: C3266076
Disease: Orofacial cleft
Orofacial cleft 		disease Congenital Abnormality 18 2 0.200 None 1.000 1 1994 1994
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.200 None 1.000 1 2008 2008
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.100 None 0.978 46 4 1996 2020
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.100 None 1.000 15 1 1994 2013