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8 records shown · first 60Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality.
PMID 39054721 | DOI 10.24976/Discov.Med.202436186.140 · Discovery medicine · 2024 · 15 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | H63D | “Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality.” | 0.82 | literature_variant_regex_v2 |
| gene | HFE | “Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality.” | 0.98 | hgnc_dict_v1 |
| gene | CFH | “RESULTS: The study showed that the genetic variants associated with genes such as Homeostatic Iron Regulator (HFE) (found in 7 patients, representing 44%), complement factor H (CFH) (6 patients, 38%), cadherin 23 (CDH23) (4 patients, 25%), cytotoxic T-lymphocyte associated protein 4 (CTLA-4) (3 patients, 19%), Transforming Growth Factor Beta 1 (TGFB1) (3 patients, 19%), CREB-binding protein (CREBBP) (2 patients, 13%), E1A Binding Protein P300 (EP300) (2 patients, 13%), hemoglobin subunit beta (HBB) (2 patients, 13%), interferon regulatory factor 7 (IRF7) (2 patients, 13%), and unc-119 lipid binding chaperone (UNC119) (2 patients, 13%) might be associated with susceptibility to coronavirus.” | 0.98 | hgnc_dict_v1 |
| gene | CDH23 | “RESULTS: The study showed that the genetic variants associated with genes such as Homeostatic Iron Regulator (HFE) (found in 7 patients, representing 44%), complement factor H (CFH) (6 patients, 38%), cadherin 23 (CDH23) (4 patients, 25%), cytotoxic T-lymphocyte associated protein 4 (CTLA-4) (3 patients, 19%), Transforming Growth Factor Beta 1 (TGFB1) (3 patients, 19%), CREB-binding protein (CREBBP) (2 patients, 13%), E1A Binding Protein P300 (EP300) (2 patients, 13%), hemoglobin subunit beta (HBB) (2 patients, 13%), interferon regulatory factor 7 (IRF7) (2 patients, 13%), and unc-119 lipid binding chaperone (UNC119) (2 patients, 13%) might be associated with susceptibility to coronavirus.” | 0.98 | hgnc_dict_v1 |
Molecular Screening via Sanger Sequencing of the Genetic Variants in Non-Alcoholic Fatty Liver Disease Subjects in the Saudi Population: A Hospital-Based Study.
PMID 36557278 | PMCID PMC9784496 | DOI 10.3390/metabo12121240 · Metabolites · 2022 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | H63D | “The present study utilized five polymorphisms in three genes: PNPLA3 (I148M and K434E) TM6SF2 (E167K), and HFE (H63D and C282Y), based on undocumented case−control studies in the Saudi Arabian population.” | 0.82 | literature_variant_regex_v2 |
| gene | PNPLA3 | “Candidate gene and genome-wide association studies have validated the relationships between NAFLD, NASH, PNPLA3, TM6SF2, and HFE.” | 0.98 | hgnc_dict_v1 |
| gene | TM6SF2 | “Candidate gene and genome-wide association studies have validated the relationships between NAFLD, NASH, PNPLA3, TM6SF2, and HFE.” | 0.98 | hgnc_dict_v1 |
| gene | HFE | “Candidate gene and genome-wide association studies have validated the relationships between NAFLD, NASH, PNPLA3, TM6SF2, and HFE.” | 0.98 | hgnc_dict_v1 |
Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.
PMID 31522215 | PMCID PMC6790492 | DOI 10.15537/smj.2019.9.24482 · Saudi medical journal · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.H63D | “The p.H63D mutation was observed in 23 (11.3%) cases, out of which 19 cases were heterozygous for p.H63D and 4 cases were homozygous.” | 0.95 | hgvs_regex_v1 |
| variant | H63D | “Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.” | 0.82 | literature_variant_regex_v2 |
| gene | HFE | “Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.” | 0.93 | phenotype_alias_lexicon_v2 |
Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major.
PMID 31707418 | PMCID PMC6901760 | DOI 10.15537/smj.2019.11.24579 · Saudi medical journal · 2019 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | H63D | “Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. [No Abstract Available].” | 0.82 | literature_variant_regex_v2 |
| gene | HFE | “Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. [No Abstract Available].” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. [No Abstract Available].” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | C282Y | “Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. [No Abstract Available].” | 0.82 | literature_variant_regex_v2 |
Correlation of hemochromatosis gene mutations and cardiovascular disease in hemodialysis patients.
PMID 23793422 | PMCID PMC6078524 | DOI 10.5144/0256-4947.2013.223 · Annals of Saudi medicine · 2013 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | H63D | “METHODS: C282Y/H63D mutations of HFE gene were evaluated in 560 HD patients and 480 healthy controls from 4 HD centers in North China.” | 0.82 | literature_variant_regex_v2 |
| gene | HFE | “Hemochromatosis (HFE) gene mutations are reported to be associated with CVD.” | 0.98 | hgnc_dict_v1 |
| variant | C282Y | “METHODS: C282Y/H63D mutations of HFE gene were evaluated in 560 HD patients and 480 healthy controls from 4 HD centers in North China.” | 0.82 | literature_variant_regex_v2 |
Hereditary hemochromatosis of tongue.
PMID 21176807 | DOI 10.1016/j.tripleo.2010.09.009 · Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics · 2011 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | H63D | “Classical HH is associated with mutations in HFE (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent.” | 0.82 | literature_variant_regex_v2 |
| gene | HFE | “Classical HH is associated with mutations in HFE (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Target organs and tissues affected by HH include the liver, heart, pancreas, joints, and skin, with cirrhosis and diabetes mellitus representing late signs of disease in patients with markedly elevated liver iron concentration.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | C282Y | “Classical HH is associated with mutations in HFE (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent.” | 0.82 | literature_variant_regex_v2 |
Hemochromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population.
PMID 18521456 · Saudi medical journal · 2008 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | H63D | “OBJECTIVE: To assess the frequency of 2 different forms of hemochromatosis HFE gene mutations (C282Y and H63D mutations) in a normal population in comparison with type 2 diabetic patients.” | 0.82 | literature_variant_regex_v2 |
| gene | HFE | “Hemochromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Hemochromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | C282Y | “OBJECTIVE: To assess the frequency of 2 different forms of hemochromatosis HFE gene mutations (C282Y and H63D mutations) in a normal population in comparison with type 2 diabetic patients.” | 0.82 | literature_variant_regex_v2 |
Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 | PMCID PMC1468397 | DOI 10.1186/1471-2350-7-43 · BMC medical genetics · 2006 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.H63D | “Two popular mutations in HFE, p.C282Y and p.H63D, have been discovered and found to associate with HH in different ethnic backgrounds. p.C282Y and p.H63D diagnosis is usually made by restriction enzyme analysis.” | 0.95 | hgvs_regex_v1 |
| variant | H63D | “Additionally, these assays were used in a high throughput format to establish the allele frequency of C282Y and H63D in Saudis for the first time.” | 0.82 | literature_variant_regex_v2 |
| gene | HFE | “Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.” | 0.95 | saudi_context_rules_v1 |