Phenotype

Mucopolysaccharidosis

HPO: HP:0008155 | MedGen: search
Saudi human-genetics coreAll Saudi-affiliated records

Overview

Term
mucopolysaccharidosis
HPO
HP:0008155
OMIM
-
In SaudiVarKB
37 articles, 37 mentions

Synonyms

None recorded

External resources

ClinVar ↗PubMed ↗
37Publications10Co-reported genes9Variants in these articles1Saudi regionsOpenLiterature network

Co-reported genes

Genes named in the same articles as mucopolysaccharidosis. Co-mention, not a proven association.

GeneArticlesEvidence
ARSB2View sentences
GALNS2View sentences
IDUA2View sentences
AGBL51View sentences
CDH161View sentences
DNAJC171View sentences
DYM1View sentences
GNS1View sentences
NAGLU1View sentences
RAB33B1View sentences

Variants in these articles

Variants reported in articles that mention mucopolysaccharidosis; the gene is shown only when the link was confirmed by dbSNP or LitVar2.

VariantGeneArticles
Y251X-1
c.784delC-1
c.889C>T-1
p.Arg297*-1
p.H262Tfs-1
p.L303P-1
p.L490P-1
p.P533R-1
p.R105Q-1

Saudi regions

RegionArticles
Eastern Province2