Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
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 |
|---|---|---|---|---|
| variant | rs1061147 | “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.” | 0.90 | 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 |
| 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 |