(Q55784304)

English

BAP1-related tumor predisposition syndrome

human disease

TUMOR PREDISPOSITION SYNDROME; TPDS
Tumor susceptibility linked to germline BAP1 mutations
TUMOR PREDISPOSITION SYNDROME
TPDS

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default values for all languages

No label defined

No description defined

Statements

0 references

class of disease

0 references

hereditary neoplastic syndromes

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

inherited tumor

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

4 references

Germline mutations in BAP1 predispose to melanocytic tumors

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/d70c33af-2e4f-4489-9c29-797655015b1d--2019-03-21T17:57:13

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d70c33af-2e4f-4489-9c29-797655015b1d-2019-03-21T175713.803Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000163930/MONDO_0013692

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_289539

0 references

Identifiers

GARD rare disease ID

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

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