Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. | 27657131 | 2016 |
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|
0.700 | GeneticVariation | UNIPROT | Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. | 20979233 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. | 19438931 | 2009 |
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|
0.700 | GeneticVariation | UNIPROT | Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. | 18231121 | 2008 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. | 16435307 | 2006 |
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|
0.700 | GeneticVariation | UNIPROT | Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. | 16029325 | 2005 |
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|
0.700 | GeneticVariation | UNIPROT | A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. | 15373768 | 2004 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. | 10431241 | 1999 |