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Phenotype
Hemophilia
122articles
122mentions
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 60Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.
PMID 28270892 | PMCID PMC5330775 | DOI 10.14740/jocmr2876w · Journal of clinical medicine research · 2017 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | hemophilia | “Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.855G>C | “In factor IX, we found a novel mutation c.855G>C, p. (E285D) in exon 8.” | 0.95 | hgvs_regex_v1 |
| population | Saudi Arabia | “Our objective was to identify the spectrum of mutations of the factor VIII and factor IX genes in Saudi Arabian population and determine the genotype and phenotype correlations by molecular dynamics (MD) simulation. METHODS: For genotyping, blood samples from Saudi Arabian patients were collected, and the genomic DNA was amplified, and then sequenced by Sanger method. These findings are useful for genetic counseling in the case of consanguineous marriages which is more common in the Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | c.99G>T | “The factor VIII novel mutations identified were c.99G>T, p. (W33C) in exon 1, c.2138 DelA, p. (N713Tfs*9) in eon14, also a novel mutation at splicing acceptor site of exon 23 c.6430 - 1G>A.” | 0.95 | hgvs_regex_v1 |