DLX3, distal-less homeobox 3, 1747

N. diseases: 67; N. variants: 5
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: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 1 3 0.710 strong 1.000 4 3 2005 2016
CUI: C0399373
Disease: Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 1 0.300 None 1.000 1 2005 2005
CUI: C0157733
Disease: Abnormality of the hair
Abnormality of the hair 		group Skin and Connective Tissue Diseases Finding 1 1 0.100 None 0 1
CUI: C1860855
Disease: Obliteration of the calvarial diploe
Obliteration of the calvarial diploe 		phenotype Finding 1 0.100 None 0
CUI: C4025872
Disease: Abnormality of the mastoid
Abnormality of the mastoid 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4280782
Disease: Periapical tooth abscess
Periapical tooth abscess 		disease Disease or Syndrome 1 0.100 None 0
CUI: C4020815
Disease: Agenesis of incisor
Agenesis of incisor 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1860711
Disease: Dental enamel pits
Dental enamel pits 		phenotype Finding 5 1 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: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 8 5 0.800 strong 1.000 22 4 1998 2019
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 0.010 None 1.000 1 2007 2007
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 18 0.010 None 1.000 1 2007 2007
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 3 0.100 None 0 1
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 27 29 0.010 None 1.000 1 2007 2007
CUI: C1856963
Disease: Fragile nails
Fragile nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0
CUI: C3887639
Disease: Autoimmune gastritis
Autoimmune gastritis 		disease Digestive System Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2019 2019
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.010 None 1.000 1 2001 2001
CUI: C0266039
Disease: Taurodontism
Taurodontism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.140 None 1.000 4 2 2005 2008
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 45 0.010 None 1.000 1 2019 2019
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 50 6 0.010 None 1.000 1 2007 2007
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		disease Disease or Syndrome 52 3 0.010 None 1.000 1 2017 2017
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.170 None 1.000 7 2 2005 2019
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 0.050 None 1.000 5 2005 2011
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype Finding 71 10 0.100 None 0