http://rdf.disgenet.org/resource/nanopub/NP580524.RAoNJZ38pKUve0a4i9SWjij1Bb6EYMiFQpb9QkJ2JTqxk
type: Nanopublication
created: 2016-05-13T12:46:08+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

http://rdf.disgenet.org/resource/nanopub/NP580524.RAoNJZ38pKUve0a4i9SWjij1Bb6EYMiFQpb9QkJ2JTqxk130_assertion
type: Assertion
description: [Three rare recessive diseases in humans, namely diastrophic dysplasia (cartilage disorder resulting in growth retardation), congenital chloride diarrhoea (anion exchange disorder of the intestine) and Pendred syndrome (deafness with thyroid disorder) turned out to be caused by the highly related genes SLC26A2 (first called DTDST), SLC26A3 (first called CLD or DRA) and SLC26A4 (first called PDS), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17120758
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