Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
EDAR |
disease |
C0406702 |
Biomarker |
0.59 |
orphanet , disgenet |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
EDAR |
disease |
C0406702 |
GeneticVariation |
0.59 |
orphanet , disgenet |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
EDAR |
disease |
C0406702 |
GermlineCausalMutation |
0.59 |
orphanet , disgenet |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
EDARADD |
disease |
C0406702 |
GeneticVariation |
0.51 |
orphanet , disgenet |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
EDARADD |
disease |
C0406702 |
GermlineCausalMutation |
0.51 |
orphanet , disgenet |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
EDARADD |
disease |
C0406702 |
Biomarker |
0.51 |
orphanet , disgenet |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
WNT10A |
disease |
C0406702 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
EDA |
disease |
C0406702 |
GeneticVariation |
0.01 |
disgenet |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
CSTB |
NA |
C0406702 |
NA |
NA |
orphanet |
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