From 53d770bbcc7a668cd09f6e07746fde27c49e7f29 Mon Sep 17 00:00:00 2001
From: Jerven Bolleman <jerven.bolleman@sib.swiss>
Date: Fri, 24 May 2024 14:41:50 +0200
Subject: [PATCH] Add an example to get UniProt annotated diseases and omim

---
 uniprot/genetic_disease_related_proteins.ttl | 31 ++++++++++++++++++++
 1 file changed, 31 insertions(+)
 create mode 100644 uniprot/genetic_disease_related_proteins.ttl

diff --git a/uniprot/genetic_disease_related_proteins.ttl b/uniprot/genetic_disease_related_proteins.ttl
new file mode 100644
index 000000000..2e0e32b75
--- /dev/null
+++ b/uniprot/genetic_disease_related_proteins.ttl
@@ -0,0 +1,31 @@
+prefix ex: <https://sparql.uniprot.org/.well-known/sparql-examples/> 
+prefix up: <http://purl.uniprot.org/core/> 
+prefix sh: <http://www.w3.org/ns/shacl#> 
+prefix schema:<https://schema.org/>
+prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> 
+prefix faldo:<http://biohackathon.org/resource/faldo#>
+prefix rdfs:<http://www.w3.org/2000/01/rdf-schema#>
+
+ex:genetic_disease_related_proteins
+    a sh:SPARQLSelectExecutable, sh:SPARQLExecutable ;
+    sh:prefixes _:sparql_examples_prefixes ;
+    schema:target <https://sparql.uniprot.org/sparql/> ;
+    rdfs:comment """List all UniProt proteins annotated to be related to a genetic disease.""" ;
+    sh:select """SELECT
+  ?uniprot ?disease ?diseaseComment ?mim
+WHERE
+{
+  GRAPH <http://sparql.uniprot.org/uniprot> {
+    ?uniprot a up:Protein ;
+       up:annotation ?diseaseAnnotation .
+    ?diseaseAnnotation up:disease ?disease .
+  }
+  GRAPH <http://sparql.uniprot.org/diseases> {
+    ?disease a up:Disease ;
+             rdfs:comment ?diseaseComment .
+    OPTIONAL {
+      ?disease rdfs:seeAlso ?mim .
+       ?mim up:database <http://purl.uniprot.org/database/MIM> .
+    }
+  }
+}""" .