(Q32146562)

English

platelet-type bleeding disorder 15

human disease

autosomal dominant macrothrombocytopenia ACTN1-related
BDPLT15
Macrothrombocytopenia, Autosomal Dominant, Actn1-Related
BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15
BLEEDING DISORDER, PLATELET-TYPE, 15

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inherited blood coagulation disease

1 reference

15 May 2019

blood platelet disease

1 reference

30 November 2020

autosomal dominant disease

1 reference

30 November 2020

1 reference

30 November 2020

5 references

13 August 2019

ACTN1 mutations cause congenital macrothrombocytopenia

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/215f3113-cfb6-44cc-a68b-1eb6539c9fa0--2020-11-25T17:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_215f3113-cfb6-44cc-a68b-1eb6539c9fa0-2020-11-25T170000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000072110/MONDO_0014078

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0111053

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111053

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_140957

0 references

Identifiers

1 reference

30 November 2020

0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

(Q32146562)

platelet-type bleeding disorder 15

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