platelet-type bleeding disorder 10 - 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:	platelet-type bleeding disorder 10	go back to main search page
Accession:	DOID:0111046	browse the term
Definition:	A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. (DO)
Synonyms:	exact_synonym:	BDPLT10; CD36 Deficiency; platelet glycoprotein IV deficiency
	primary_id:	MESH:C564245
	alt_id:	OMIM:608404
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (2)

platelet-type bleeding disorder 10

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cd36

CD36 molecule

ISO

ClinVar Annotator: match by term: Platelet glycoprotein IV deficiency
ClinVar Annotator: match by OMIM:608404
ClinVar Annotator: match by null

OMIM
ClinVar

PMID:7533783 PMID:7686693 PMID:8696942 PMID:10890433 PMID:10946357 PMID:11019968 PMID:11352982 PMID:11499670 PMID:11718687 PMID:11950861 PMID:12031598 PMID:15282206 PMID:15671915 PMID:16493488 PMID:18305138 PMID:19403559 PMID:20722468 PMID:22993001 PMID:23649248 PMID:23856131 PMID:23966019 PMID:24033266 PMID:24917573 PMID:24960640 PMID:25330908 PMID:25741868 PMID:25798958 PMID:25995486 PMID:26528880 PMID:28137300 PMID:28492532

NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749

Serpine1

serpin family E member 1

severity

ISO

RGD

PMID:18820218

RGD:13208509

NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482

Term paths to the root

Path 1
Term	Annotations
disease	16085
disease of anatomical entity	15340
hematopoietic system disease	1659
hemorrhagic disease	614
blood platelet disease	295
platelet-type bleeding disorder 10	2
Path 2
Term	Annotations
disease	16085
Developmental Diseases	9586
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	8437
genetic disease	7954
monogenic disease	5748
autosomal genetic disease	4766
autosomal recessive disease	2628
platelet-type bleeding disorder 10	2

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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