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AEBP1 and Ehlers-Danlos syndrome are reported together in 2 articles.
Gene
AEBP1
- HGNC
- HGNC:303
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
PMID 29606302 | PMCID PMC5985336 | DOI 10.1016/j.ajhg.2018.02.018 · American journal of human genetics · 2018 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AEBP1 | “Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1470delC | “Exome sequencing revealed compound heterozygous variants in AEBP1 (c.1470delC [p.Asn490_Met495delins(40)] and c.1743C>A [p.Cys581∗]) in the first individual, a homozygous variant (c.1320_1326del [p.Arg440Serfs∗3]) in the second individual, and a homozygous splice site variant (c.1630+1G>A) in two siblings from the third family.” | 0.95 | hgvs_regex_v1 |
| variant | c.1743C>A | “Exome sequencing revealed compound heterozygous variants in AEBP1 (c.1470delC [p.Asn490_Met495delins(40)] and c.1743C>A [p.Cys581∗]) in the first individual, a homozygous variant (c.1320_1326del [p.Arg440Serfs∗3]) in the second individual, and a homozygous splice site variant (c.1630+1G>A) in two siblings from the third family.” | 0.95 | hgvs_regex_v1 |
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
PMID 27023906 | DOI 10.1007/s00439-016-1660-z · Human genetics · 2016 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AEBP1 | “In addition, exome capture in a familial case identified a homozygous truncating variant in a novel and compelling candidate gene, AEBP1.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “Ehlers-Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations can vary widely between the different historical subtypes.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | B3GALT6 | “Molecular lesions included variants in the previously published disease genes B3GALT6, GORAB, ZNF469, B3GAT3, ALDH18A1, FKBP14, PYCR1, CHST14 and SPARC with interesting variations on the published clinical phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | GORAB | “Molecular lesions included variants in the previously published disease genes B3GALT6, GORAB, ZNF469, B3GAT3, ALDH18A1, FKBP14, PYCR1, CHST14 and SPARC with interesting variations on the published clinical phenotypes.” | 0.98 | hgnc_dict_v1 |