(Q32144863)

English

nemaline myopathy 8

human disease

NEM8
nemaline myopathy 8, autosomal recessive
NEMALINE MYOPATHY 8; NEM8
Nemaline Myopathy type 8
NEMALINE MYOPATHY 8

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Statements

0 references

0 references

1 reference

30 November 2020

1 reference

15 May 2019

autosomal recessive disease

1 reference

30 November 2020

5 references

13 August 2019

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/dd1008a8-dd54-43d0-962c-82453975dc3a--2019-11-05T13:46:03

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd1008a8-dd54-43d0-962c-82453975dc3a-2019-11-05T134603.480Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000157119/MONDO_0014138

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C129871

0 references

C129871

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

http://purl.obolibrary.org/obo/DOID_0110930

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0110930

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_607

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

(Q32144863)

nemaline myopathy 8

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