EDARADD, EDAR associated death domain, 128178

N. diseases: 66; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
0.800 Biomarker disease CTD_human
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
0.800 CausalMutation disease CLINVAR
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
0.800 GeneticVariation disease CLINVAR
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome
0.700 Biomarker disease HPO
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
0.700 GeneticVariation disease CLINVAR
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
0.700 CausalMutation disease CLINVAR
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
0.510 GermlineCausalMutation disease ORPHANET
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
0.510 Biomarker disease CTD_human
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.420 GermlineCausalMutation disease ORPHANET
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.420 Biomarker disease HPO
CUI: C4082304
Disease: Oligodontia
Oligodontia
0.420 GermlineCausalMutation disease ORPHANET
CUI: C4082304
Disease: Oligodontia
Oligodontia
0.420 Biomarker disease HPO
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
0.300 GermlineCausalMutation disease ORPHANET
CUI: C1720965
Disease: Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia 3, Anhidrotic
0.300 Biomarker disease CTD_human
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
0.200 CausalMutation disease CLINVAR
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia
0.100 Biomarker disease HPO
CUI: C0003028
Disease: Anhidrosis
Anhidrosis
0.100 Biomarker disease HPO
CUI: C0013595
Disease: Eczema
Eczema
0.100 Biomarker disease HPO
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis
0.100 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
0.100 Biomarker disease HPO
Malignant hyperpyrexia due to anesthesia
0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 Biomarker disease HPO
CUI: C0035455
Disease: Rhinitis
Rhinitis
0.100 Biomarker disease HPO
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities
0.100 Biomarker group HPO