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DYM and mucopolysaccharidosis are reported together in 1 article.
Gene
DYM
- HGNC
- HGNC:21317
7articles
7mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
skeletal dysplasia 5intellectual disability 3celiac disease 1coronary artery disease 1developmental delay 1dyslipidemia 1mucopolysaccharidosis 1
Reported variants (articles · ClinVar status)
Phenotype
Mucopolysaccharidosis
- HPO
- HP:0008155
37articles
37mentions
10co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.
PMID 22652534 | DOI 10.1136/jmedgenet-2011-100666 · Journal of medical genetics · 2012 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DYM | “Autosomal recessive mutations in DYM are known to cause this disease through its role in Golgi organisation and intracellular traffic, but genetic heterogeneity is suspected.” | 0.98 | hgnc_dict_v1 |
| phenotype | mucopolysaccharidosis | “BACKGROUND: Dyggve--Melchior--Clausen syndrome (DMC) is a chondrodysplasia that bears significant phenotypic resemblance to mucopolysaccharidosis type IV (Morquio disease).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RAB33B | “Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.” | 0.98 | hgnc_dict_v1 |
| population | Population | “RESULTS: This multiplex consanguineous family links to a novel locus on 4q31.1.” | 0.80 | saudi_context_rules_v1 |