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: 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: 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: 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: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2018 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		disease Disease or Syndrome 39 104 0.100 None 1.000 1 1 2016 2016
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		phenotype Pathologic Function 19 7 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		phenotype Finding 35 1 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 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: 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: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype Finding 105 3 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C2675460
Disease: HAIR MORPHOLOGY 1
HAIR MORPHOLOGY 1 		phenotype Finding 1 0.300 strong 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