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PGAP3 and obesity are reported together in 1 article.
Gene
PGAP3
- HGNC
- HGNC:23719
4articles
4mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
intellectual disability 3cleft lip and palate 2developmental delay 2epilepsy 1obesity 1primary congenital glaucoma 1
Reported variants (articles · ClinVar status)
Phenotype
Obesity
- HPO
- HP:0001513
856articles
856mentions
12co-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 60Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
PMID 30345601 | DOI 10.1002/ajmg.a.40627 · American journal of medical genetics. Part A · 2018 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGAP3 | “The utilization of homozygosity mapping coupled with PGAP3 sequencing and whole exome sequencing facilitated the mutation detection in these patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “Additionally, fracture, bilateral coxa valga, camptodactyly, truncal obesity, and hyperpigmented macules of the upper thigh, each was seen once and was not described before with HPMRS4.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin. We report here detailed clinical, biochemical, and molecular findings of 14 patients clinically suspected to have HPMRS4, from three Middle-Eastern Countries; Saudi Arabia, Qatar, and Oman. We believe that the recurrent mutations identified in our cohort may represent founder mutations in big tribes from a certain geographical region of Saudi Arabia, Qatar, and Oman.” | 0.95 | saudi_context_rules_v1 |