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Phenotype
Ehlers-Danlos syndrome
19articles
19mentions
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
2 records shown · first 60A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.
PMID 42353838 | PMCID PMC13300355 | DOI 10.3390/genes17060679 · Genes · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Ehlers-Danlos syndrome | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Glu684Lys | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.95 | hgvs_regex_v1 |
| gene | COL1A1 | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A2 | “It is typically caused by heterozygous splice-site variants in COL1A1 or COL1A2, leading to exon 6 skipping.” | 0.98 | hgnc_dict_v1 |
Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.
PMID 33693443 | PMCID PMC7938939 | DOI 10.1055/s-0041-1722873 · Global medical genetics · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Ehlers-Danlos syndrome | “Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Glu684Lys | “Whole exome sequencing identified a homozygous missense mutation (c.2050G > A; p.Glu684Lys) in the COL1A1 gene in both affected individuals, although heterozygous variants in the COL1A1 are known to cause EDS.” | 0.95 | hgvs_regex_v1 |
| gene | COL1A1 | “Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation. Recently, only one report showed homozygous variant as an underlying cause of the EDS in two Saudi families. This is the second report of a homozygous variant in the COL1A1 gene in a family of Saudi origin. The identification of a unique homozygous mutation (c.2050G > A) in three Saudi families argues in favor of a founder effect.” | 0.95 | saudi_context_rules_v1 |