EDAR, ectodysplasin A receptor, 10913

N. diseases: 69; N. variants: 36
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: C0080233
Disease: Tooth Loss
Tooth Loss
disease Stomatognathic Diseases Acquired Abnormality 49 8 0.020 None < 0.001 2 2010 2014
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.100 None 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 26 0.100 None 0
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2018 2018
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 4 0.590 None 1.000 9 2005 2019
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.160 None 0.833 6 2009 2019
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 29 2 0.030 None 0.667 3 2002 2019
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 0.120 None < 0.001 2 2010 2014
CUI: C4082304
Disease: Oligodontia
Oligodontia
disease Congenital Abnormality 62 34 0.020 None 1.000 2 2011 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2013 2013
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0235357
Disease: Hypoplasia of teeth
Hypoplasia of teeth
disease Digestive System Diseases; Stomatognathic Diseases Congenital Abnormality 14 0.100 None 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 109 6 0.100 None 0
CUI: C1720965
Disease: Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia 3, Anhidrotic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.300 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 45 78 0.400 None 0.957 23 1969 2019
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 25 35 0.700 None 0.952 21 29 1999 2019
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
disease Disease or Syndrome 18 10 0.200 None 0.938 16 5 1999 2019
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
disease Disease or Syndrome 18 11 0.700 strong 0.929 14 8 1999 2019
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 25 7 0.100 None 0.917 12 1 2004 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 0.170 None 1.000 8 1 2005 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.030 None 1.000 3 2017 2017
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None 1.000 1 2017 2017
CUI: C0029489
Disease: Other alopecia
Other alopecia
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 39 104 0.100 None 1.000 1 1 2016 2016
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 112 107 0.100 None 1.000 1 1 2016 2016