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Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

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Details on Person genetic disease

Class:IdDisease:9663832
_displayNamegenetic disease
_timestamp2019-10-16 11:15:02
created[InstanceEdit:9663831] Orlic-Milacic, Marija, 2019-10-16
definitionA disease that has_material_basis_in genetic variations in the human genome.
identifier630
namegenetic disease
referenceDatabase[ReferenceDatabase:1247631] DOID
(disease)[EntityWithAccessionedSequence:9663721] OGG1 D268N [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9663725] OGG1 K249Q [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9663727] OGG1 D268A [nucleoplasm] [Homo sapiens]
[Complex:9693918] TRADD:TRAF2:RIPK1 variant:FADD [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9693922] RIPK1 D324H [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9693927] RIPK1 D324V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9693930] RIPK1 D324N [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9693931] RIPK1 D324Y [cytosol] [Homo sapiens]
[DefinedSet:9693933] non-cleavable RIPK1 variants [cytosol] [Homo sapiens]
[Pathway:9673013] Diseases of Telomere Maintenance [Homo sapiens]
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No pathways have been reviewed or authored by genetic disease (9663832)