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: C2675460
Disease: HAIR MORPHOLOGY 1
HAIR MORPHOLOGY 1 		phenotype Finding 1 0.300 strong 0
CUI: C3551587
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		disease Finding 1 4 0.100 None 0 4
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: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		disease Disease or Syndrome 2 17 0.100 None 0 2
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
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: C0265331
Disease: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.300 None 0
CUI: C1844605
Disease: Periorbital wrinkles
Periorbital wrinkles 		phenotype Finding 5 1 0.100 None 0
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation 		phenotype Finding 5 2 0.100 None 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		phenotype Finding 12 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: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 18 10 0.200 None 0.938 16 5 1999 2019
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 18 11 0.700 strong 0.929 14 8 1999 2019
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		phenotype Pathologic Function 19 7 0.100 None 0
CUI: C0266052
Disease: Precocious exfoliation of primary tooth
Precocious exfoliation of primary tooth 		phenotype Stomatognathic Diseases Finding 20 0.100 None 0
CUI: C3887494
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
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
CUI: C3539920
Disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
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: 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: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 28 128 0.100 None 0 2
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: C1832348
Disease: Slow-growing hair
Slow-growing hair 		phenotype Finding 35 1 0.100 None 0
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0
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: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		disease 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: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		disease 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: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		disease Disease or Syndrome 39 104 0.100 None 1.000 1 1 2016 2016