ENAM, enamelin, 10117

N. diseases: 30; N. variants: 11
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: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 6 6 0.910 strong 1.000 7 6 2001 2017
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.700 None 1.000 33 1 1997 2019
CUI: C2673923
Disease: Amelogenesis Imperfecta, Type Ic
Amelogenesis Imperfecta, Type Ic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 1 3 0.700 strong 1.000 5 3 2003 2017
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 9 2 0.340 None 1.000 6 2000 2015
CUI: C0011430
Disease: Dentin Dysplasia
Dentin Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 16 0.200 None 1.000 2 2005 2014
CUI: C0028878
Disease: Odontogenesis Imperfecta
Odontogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 4 0.200 None 1.000 2 2005 2014
CUI: C2981132
Disease: Shell teeth
Shell teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 5 0.200 None 1.000 2 2005 2014
CUI: C0868847
Disease: Hereditary disturbances in tooth structure, not elsewhere classified in ICD10CM
Hereditary disturbances in tooth structure, not elsewhere classified in ICD10CM 		disease Congenital Abnormality 4 0.200 None 1.000 2 2005 2014
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.200 None 1.000 2 2005 2014
CUI: C0266060
Disease: Anterior open bite
Anterior open bite 		disease Stomatognathic Diseases Anatomical Abnormality 13 0.110 None 1.000 1 2010 2010
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		phenotype Finding 7 2 0.100 None 0
CUI: C3665628
Disease: Hypomineralization of enamel of tooth
Hypomineralization of enamel of tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C0011334
Disease: Dental caries
Dental caries 		disease Stomatognathic Diseases Disease or Syndrome 330 126 0.070 None 0.857 7 4 2012 2018
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 106 33 0.050 None 1.000 5 4 2014 2017
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		disease Digestive System Diseases Disease or Syndrome 190 22 0.040 None 1.000 4 1999 2018
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 213 23 0.040 None 1.000 4 1999 2018
CUI: C0028880
Disease: Odontogenic Tumors
Odontogenic Tumors 		group Neoplasms Neoplastic Process 62 2 0.020 None 1.000 2 1998 2009
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.020 None 1.000 2 2003 2011
CUI: C3826476
Disease: Dental caries in children
Dental caries in children 		disease Disease or Syndrome 6 0.020 None 1.000 2 2019 2019
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 72 1 0.020 None 1.000 2 2005 2016
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma 		disease Neoplasms Neoplastic Process 174 4 0.010 None 1.000 1 1998 1998
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.010 None 1.000 1 2011 2011
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2008 2008
CUI: C2350038
Disease: Molar Incisor Hypomineralization
Molar Incisor Hypomineralization 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 1 2013 2013
CUI: C1704330
Disease: Dental Diseases
Dental Diseases 		group Stomatognathic Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2017 2017