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Phenotype
Malaria
232articles
232mentions
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 60Complement factor H gene polymorphisms and vivax malaria associated thrombotic microangiopathy.
PMID 31031394 | DOI 10.4103/1319-2442.256865 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | malaria | “Complement factor H gene polymorphisms and vivax malaria associated thrombotic microangiopathy.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Ala243Ala | “The complement workup confirmed dysregulated ACP and revealed two single-nucleotide polymorphisms in CFH gene, i.e. exon-7 rs1061147 (p.Ala243Ala) and exon-9 rs1061170 (p.His402Tyr) which predisposed this patient to develop TMA precipitated by vivax malaria.” | 0.95 | hgvs_regex_v1 |
| gene | CFH | “Herein, we describe the presence of two complement factor H (CFH) variants in an 8-year-old female with vivax malaria associated TMA.” | 0.98 | hgnc_dict_v1 |
| variant | p.His402Tyr | “The complement workup confirmed dysregulated ACP and revealed two single-nucleotide polymorphisms in CFH gene, i.e. exon-7 rs1061147 (p.Ala243Ala) and exon-9 rs1061170 (p.His402Tyr) which predisposed this patient to develop TMA precipitated by vivax malaria.” | 0.95 | hgvs_regex_v1 |