NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ- 92-m5 UaPwWuBUGuRxU
has assertion: NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ- 92-m5 UaPwWuBUGuRxU130 assertion
has provenance: NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ- 92-m5 UaPwWuBUGuRxU130 provenance
has publication info: NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ- 92-m5 UaPwWuBUGuRxU130 publicationInfo
type: Nanopublication
created: 2016-05-13T12:47:06+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v4.0.0.0

NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ- 92-m5 UaPwWuBUGuRxU130 assertion
type: Assertion
description: [Mutations in the gene encoding the ligand ectodysplasin A (EDA) underlie classic, X-linked recessive HED, whereas mutations in the genes encoding the EDA receptor and (less frequently) the adaptor protein that associates with the EDA receptor's death domain result in autosomal dominant and autosomal recessive forms of HED.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19061621
was generated by: ECO_0000203

befree-2016
imported on: 2016-02-19

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetv3.0rdf
version: v4.0.0