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COL7A1 and familial Mediterranean fever are reported together in 1 article.
Gene
COL7A1
- HGNC
- HGNC:2214
9articles
9mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Familial Mediterranean fever
34articles
34mentions
4co-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 60Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature.
PMID 31929295 | DOI 10.4103/1319-2442.275492 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2019 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL7A1 | “He had homozygous mutation in COL7A1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Although he did not have any symptoms of autoimmune diseases and mutation in the MEFV gene, he was given colchicine because of positive family history for familial Mediterranean fever and amyloidosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MEFV | “Although he did not have any symptoms of autoimmune diseases and mutation in the MEFV gene, he was given colchicine because of positive family history for familial Mediterranean fever and amyloidosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature.” | 0.98 | phenotype_alias_lexicon_v2 |