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: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow
phenotype Finding 68 8 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair
phenotype Finding 35 1 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: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair
phenotype Finding 69 1 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 77 4 0.100 None 0
Precocious exfoliation of primary tooth
phenotype Stomatognathic Diseases Finding 20 0.100 None 0
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: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 60 4 0.100 None 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion
phenotype Finding 12 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
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
disease Finding 1 4 0.100 None 0 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.100 None 0
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
disease Disease or Syndrome 2 17 0.100 None 0 2
CUI: C2675460
Disease: HAIR MORPHOLOGY 1
HAIR MORPHOLOGY 1
phenotype Finding 1 0.300 strong 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair
phenotype Finding 57 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
phenotype Finding 105 3 0.100 None 0
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation
phenotype Finding 5 2 0.100 None 0
CUI: C1844605
Disease: Periorbital wrinkles
Periorbital wrinkles
phenotype Finding 5 1 0.100 None 0