(Q189167)

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

0 references

0 references

Zellweger spectrum disorder

1 reference

3 July 2018

Mondo ID

MONDO_0019609

eye degenerative disease

1 reference

peroxisomal biogenesis disorder

3 July 2018

Mondo ID

MONDO_0019609

1 reference

30 November 2020

0 references

0 references

0 references

3 references

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000034693/Orphanet_912

inferred from an Open Targets association score over 0.7

PEX13

2 references

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000162928/Orphanet_912

inferred from an Open Targets association score over 0.7

PEX26

2 references

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000215193/Orphanet_912

inferred from an Open Targets association score over 0.7

PEX6

2 references

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000124587/Orphanet_912

inferred from an Open Targets association score over 0.7

PEX10

2 references

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000157911/Orphanet_912

inferred from an Open Targets association score over 0.7

PEX5

1 reference

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

PEX1

2 references

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000127980/Orphanet_912

inferred from an Open Targets association score over 0.7

PEX12

2 references

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000108733/Orphanet_912

inferred from an Open Targets association score over 0.7

PEX2

2 references

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000164751/Orphanet_912

inferred from an Open Targets association score over 0.7

PEX14

1 reference

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

PEX19

2 references

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000162735/Orphanet_912

inferred from an Open Targets association score over 0.7

PEX16

2 references

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000121680/Orphanet_912

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4621

language of work or name

Japanese

1 reference

https://ddrare.nibiohn.go.jp/

on focus list of Wikimedia project

17 May 2019

WikiProject Medicine

0 references

ICPC 2 ID

A90

1 reference

http://purl.obolibrary.org/obo/DOID_905

Spanish Wikipedia

NCI Thesaurus ID

C85239

1 reference

15 May 2019

1 reference

30 November 2020

http://identifiers.org/doid/DOID:905

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_912

0 references

Identifiers

MeSH descriptor ID

D015211

mapping relation type

exact match

subject named as

Zellweger Syndrome

1 reference

3 July 2018

0 references

C10.228.140.163.100.968

0 references

0 references

0 references

0 references

0 references

0 references

0 references

C12.050.351.968.419.978

0 references

0 references

0 references

0 references

1 reference

30 November 2020

1 reference

Encyclopædia Britannica Online ID

English Wikipedia

science/Zellweger-syndrome

subject named as

Zellweger syndrome

0 references

1 reference

28 October 2013

1 reference

15 May 2019

2 references

15 May 2019

3 July 2018

1 reference

3 July 2018

Mondo ID

MONDO_0019609

ICD-11 ID (Foundation)

226023718

0 references

ICD-9 ID

277.86

1 reference

English Wikipedia

759.8

1 reference

JSTOR topic ID (archived)

English Wikipedia

zellweger-syndrome

0 references

Microsoft Academic ID

0 references

0 references

mapping relation type

close match

1 reference

https://docs.openalex.org/download-snapshot/snapshot-data-format

3 July 2018

1 reference

26 January 2022

1 reference

15 May 2019

ScienceDirect topic ID

medicine-and-dentistry/zellweger-syndrome

0 references

Store norske leksikon ID

Zellwegers_syndromspektrum

0 references

1 reference

15 May 2019

1 reference

inferred by common MeSH mappings on source and on Wikidata

UMLS 2023