8

rq turtle/ttl

• gene name
• disease
• list

Select the preferred gene name and disease annotation of all human UniProtKB entries that are known to be involved in a disease

Use at

• https://sparql.uniprot.org/sparql/

PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#>
PREFIX skos: <http://www.w3.org/2004/02/skos/core#>
PREFIX taxon: <http://purl.uniprot.org/taxonomy/>
PREFIX up: <http://purl.uniprot.org/core/>

SELECT ?name ?text
WHERE
{
        ?protein a up:Protein . 
        ?protein up:organism taxon:9606 .
        ?protein up:encodedBy ?gene . 
        ?gene skos:prefLabel ?name .
        ?protein up:annotation ?annotation .
        ?annotation a up:Disease_Annotation .
        ?annotation rdfs:comment ?text
}

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v4("?annotation")
  v2("?gene")
  v3("?name"):::projected 
  v1("?protein")
  v5("?text"):::projected 
  c8(["up:Disease_Annotation"]):::iri 
  c2(["up:Protein"]):::iri 
  c4(["taxon:9606"]):::iri 
  v1 --"a"-->  c2
  v1 --"up:organism"-->  c4
  v1 --"up:encodedBy"-->  v2
  v2 --"skos:prefLabel"-->  v3
  v1 --"up:annotation"-->  v4
  v4 --"a"-->  c8
  v4 --"rdfs:comment"-->  v5