bilirubin metabolic disorder - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	bilirubin metabolic disorder	go back to main search page
Accession:	DOID:2741	browse the term
Definition:	A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine.
Synonyms:	exact_synonym:	Bilirubinemia; bilirubinemias; hyperbilirubinaemia; hyperbilirubinemia; hyperbilirubinemias
	primary_id:	MESH:D006932
	alt_id:	RDO:0005829
	xref:	NCI:C84761; OMIM:PS237450
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (67) Mouse (62) Human (1475) Chinchilla (45) Bonobo (51) Dog (53) Squirrel (48) Pig (53) All
Genes (63) Strains (4)

bilirubin metabolic disorder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abcc2

ATP binding cassette subfamily C member 2

treatment

IDA
ISO
IEP

CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver

CTD

PMID:16611851, PMID:16899240, PMID:15846474, PMID:8662992

RGD:1598605, RGD:11081004, RGD:631914

NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252

Abcc3

ATP binding cassette subfamily C member 3

IEP

mRNA:increased expression:liver

RGD

PMID:16543292

RGD:2301069

NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109

Alas2

5'-aminolevulinate synthase 2

IEP

protein:decreased activity:liver:

RGD

PMID:8351413

RGD:11035235

NCBI chr X:23,167,576...23,187,356
Ensembl chr X:23,167,696...23,187,341

Bcl2

BCL2, apoptosis regulator

IEP

protein:decreased expression:platelet (rat)

RGD

PMID:26459859

RGD:11522763

NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374

calbindin 1

RGD

NCBI chr 5:29,538,380...29,562,774
Ensembl chr 5:29,538,380...29,562,773

Csf3

colony stimulating factor 3

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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