PAX9, paired box 9, 5083

N. diseases: 53; N. variants: 23
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: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 1 9 0.700 None 1.000 2 9 2003 2017
CUI: C0206554
Disease: Odontodysplasia
Odontodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C4025700
Disease: Trichodysplasia
Trichodysplasia 		disease Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 7 8 0.010 None 1.000 1 2018 2018
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 13 0.020 None 1.000 2 2004 2013
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 14 0.010 None 1.000 1 2003 2003
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 7 0.010 None 1.000 1 2006 2006
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 0.300 None 0.727 11 1 2003 2018
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease Stomatognathic Diseases Acquired Abnormality 49 8 0.030 None < 0.001 3 2003 2009
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.500 None 1.000 33 7 2000 2019
CUI: C4722327
Disease: PROSTATE CANCER, HEREDITARY, 1
PROSTATE CANCER, HEREDITARY, 1 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 62 2 0.300 None 1.000 1 2018 2018
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		phenotype Finding 67 11 0.100 None 1.000 1 1 2017 2017
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 71 16 0.010 None 1.000 1 1 2015 2015
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 2 0.010 None 1.000 1 2018 2018
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2013 2013
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		group Musculoskeletal Diseases Disease or Syndrome 82 2 0.010 None 1.000 1 2001 2001
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2006 2006
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 109 6 0.110 None < 0.001 1 2018 2018
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		disease Congenital Abnormality 113 5 0.100 None 0
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 116 25 0.300 None 1.000 1 2018 2018
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		disease Neoplasms Neoplastic Process 122 20 0.010 None 1.000 1 2008 2008
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 125 43 0.010 None 1.000 1 2008 2008
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 146 6 0.010 None < 0.001 1 2014 2014
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.100 None 0.974 39 3 2001 2018
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.010 None < 0.001 1 2014 2014