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## Context
MSstats output generally contains uniprot IDs or uniprot mnemonic IDs, but not HGNC IDs. In order to query INDRA properly, HGNC IDs are ideal. Fortunately, there are INDRA python client l…
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As reported in https://github.com/NCATSTranslator/Feedback/issues/953, [UMLS:C0920288 "C-KIT Gene"](https://uts.nlm.nih.gov/uts/umls/concept/C0920288) should be a synonym of [NCBIGene:3815 "KIT"](http…
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## Overview
There is an OMIM [release artefact](https://github.com/monarch-initiative/omim/releases) `mondo_genes.csv`. It needs to be changed into a ROBOT template.
## Sub-tasks
### I. `omim` @j…
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Hi, currently the formatting of SPARQL queries aligns predicates/objects based on the length of the subject, e.g.:
```sparql
PREFIX rdfs:
PREFIX skos:
PREFIX up:
SELECT DISTINCT ?diseaseLa…
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Some GPR identifiers are incorrectly prefixed with "HGNC:HGNC:".
Reported by Claudio Angione, Teesside University (c.angione@tees.ac.uk).
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Mirror of: https://github.com/monarch-initiative/monarch-mapping-commons/issues/11
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Many terms
MONDO:0013519
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.
NOLA2 = NHP2
MONDO:0009136
Definition
A dyskera…
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## Describe the issue
vep give different result when using multi-thread(--fork).
problem:
Some gene(like ENSG00000169047 or ENSG00000168769) will loss its refseq HGNC ID(near field EntrezGene) wh…
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### Description of feature
Add hgnc id to research output in DROP
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Investigate why C9J6L7_HUMAN is not properly recognized.
Its UniProt record shows a connection to [HGNC:12340](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12340) which in turn m…