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APOB and familial hypercholesterolemia are reported together in 10 articles.
Gene
APOB
- HGNC
- HGNC:603
22articles
22mentions
5variants with confirmed gene link
Most co-reported phenotypes (articles)
familial hypercholesterolemia 10coronary artery disease 3dyslipidemia 3diabetes mellitus 2hepatocellular carcinoma 2myocardial infarction 2cardiomyopathy 1obesity 1
Reported variants (articles · ClinVar status)
Phenotype
Familial hypercholesterolemia
- HPO
- HP:0003124
- OMIM
- 143890
165articles
165mentions
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
10 records shown · first 60Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.
PMID 42133473 | DOI 10.1093/eurjpc/zwag198 · European journal of preventive cardiology · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “BACKGROUND AND AIMS: Familial hypercholesterolemia (FH), primarily caused by pathogenic LDLR, APOB, or PCSK9 variants, results in elevated LDL-C and increased cardiovascular risk.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Global survey of genetic testing methods for familial hypercholesterolemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “BACKGROUND AND AIMS: Familial hypercholesterolemia (FH), primarily caused by pathogenic LDLR, APOB, or PCSK9 variants, results in elevated LDL-C and increased cardiovascular risk.” | 0.98 | hgnc_dict_v1 |
| gene | PCSK9 | “BACKGROUND AND AIMS: Familial hypercholesterolemia (FH), primarily caused by pathogenic LDLR, APOB, or PCSK9 variants, results in elevated LDL-C and increased cardiovascular risk.” | 0.98 | hgnc_dict_v1 |
Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.
PMID 37511917 | PMCID PMC10381584 | DOI 10.3390/life13071542 · Life (Basel, Switzerland) · 2023 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “We discovered a novel frameshift variant (c.666_670dup, p.(Asp224Alafs*43) in the LDLR and a known single nucleotide variant (c.9835A > G, p.(Ser3279Gly) in the APOB gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.” | 0.98 | hgnc_dict_v1 |
| phenotype | myocardial infarction | “FH can result in myocardial infarction and even sudden death if not treated.” | 0.98 | phenotype_alias_lexicon_v2 |
Edible Bird's Nest Regulates Hepatic Cholesterol Metabolism through Transcriptional Regulation of Cholesterol Related Genes.
PMID 35722163 | PMCID PMC9203209 | DOI 10.1155/2022/8882993 · Evidence-based complementary and alternative medicine : eCAM · 2022 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “The hepatic mRNA levels of cholesterol metabolism genes (APOB, PCSK9, HMGCR, LDLR, and CYP7A1) in the HCD group also tended toward increased cholesterol production and reduced cholesterol clearance.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “OBJECTIVE: Hypercholesterolemia is a strong risk factor for cardiovascular diseases.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PCSK9 | “The hepatic mRNA levels of cholesterol metabolism genes (APOB, PCSK9, HMGCR, LDLR, and CYP7A1) in the HCD group also tended toward increased cholesterol production and reduced cholesterol clearance.” | 0.98 | hgnc_dict_v1 |
| gene | HMGCR | “The hepatic mRNA levels of cholesterol metabolism genes (APOB, PCSK9, HMGCR, LDLR, and CYP7A1) in the HCD group also tended toward increased cholesterol production and reduced cholesterol clearance.” | 0.98 | hgnc_dict_v1 |
Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.
PMID 30681615 | PMCID PMC6358331 | DOI 10.1097/MD.0000000000014247 · Medicine · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes.” | 0.98 | hgnc_dict_v1 |
| gene | PCSK9 | “Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes.” | 0.98 | hgnc_dict_v1 |
In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.
PMID 29172679 | DOI 10.1089/cmb.2017.0018 · Journal of computational biology : a journal of computational molecular cell biology · 2018 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “Missense variants resulting in amino acid changes, c.1429G>A (p.D477N), c.1474G>A (p.D492N), c.1731G>T (p.W577C), and c.1783C>T (p.R595W) in LDLR gene, in addition to c.9835A>G (p.S3279G) in APOB, were shown to be deleterious by concordant analysis.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “A total of 21 variants were detected with majority rate in LDLR (81%).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population. Familial hypercholesterolemia (FH) is a metabolic disorder that leads primarily to premature cardiovascular diseases, the main cause of mortality in Saudi Arabia (SA). FH is underreported and underdiagnosed in SA with statistical evidence of high expected prevalence in such a consanguineous community.” | 0.95 | saudi_context_rules_v1 |
Simplified Canadian Definition for Familial Hypercholesterolemia.
PMID 30093300 | DOI 10.1016/j.cjca.2018.05.015 · The Canadian journal of cardiology · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “Definite FH includes: (1) elevated LDL-C (≥ 8.50 mmol/L); or (2) LDL-C ≥ 5.0 mmol/L (for age 40 years or older; ≥ 4.0 mmol/L if age younger than 18 years; and ≥ 4.5 mmol/L if age is between 18 and 39 years) when associated with at least 1 of: (1) tendon xanthomas; or (2) causal DNA mutation in the LDLR, APOB, or PCSK9 genes in the proband or first-degree relative.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Simplified Canadian Definition for Familial Hypercholesterolemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “Definite FH includes: (1) elevated LDL-C (≥ 8.50 mmol/L); or (2) LDL-C ≥ 5.0 mmol/L (for age 40 years or older; ≥ 4.0 mmol/L if age younger than 18 years; and ≥ 4.5 mmol/L if age is between 18 and 39 years) when associated with at least 1 of: (1) tendon xanthomas; or (2) causal DNA mutation in the LDLR, APOB, or PCSK9 genes in the proband or first-degree relative.” | 0.98 | hgnc_dict_v1 |
| gene | PCSK9 | “Definite FH includes: (1) elevated LDL-C (≥ 8.50 mmol/L); or (2) LDL-C ≥ 5.0 mmol/L (for age 40 years or older; ≥ 4.0 mmol/L if age younger than 18 years; and ≥ 4.5 mmol/L if age is between 18 and 39 years) when associated with at least 1 of: (1) tendon xanthomas; or (2) causal DNA mutation in the LDLR, APOB, or PCSK9 genes in the proband or first-degree relative.” | 0.98 | hgnc_dict_v1 |
Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.
PMID 28764195 | PMCID PMC5535388 | DOI 10.7860/JCDR/2017/28156.10143 · Journal of clinical and diagnostic research : JCDR · 2017 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “Albeit the diagnosis of some medical Familial Hypercholesterolemia (FH) cases are due to mutations in PCSK9, APOB, or LDLR, detection of mutation rate and profiles relies heavily on different gene pools and ethnicity.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PCSK9 | “Albeit the diagnosis of some medical Familial Hypercholesterolemia (FH) cases are due to mutations in PCSK9, APOB, or LDLR, detection of mutation rate and profiles relies heavily on different gene pools and ethnicity.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Albeit the diagnosis of some medical Familial Hypercholesterolemia (FH) cases are due to mutations in PCSK9, APOB, or LDLR, detection of mutation rate and profiles relies heavily on different gene pools and ethnicity.” | 0.98 | hgnc_dict_v1 |
The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.
PMID 28868092 | PMCID PMC5564019 | DOI 10.2174/1874192401711010066 · The open cardiovascular medicine journal · 2017 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “The underlying molecular basis of FH is the presence of mutations in one or more genes in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin 9 (PCSK9).” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “The underlying molecular basis of FH is the presence of mutations in one or more genes in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin 9 (PCSK9).” | 0.98 | hgnc_dict_v1 |
| gene | PCSK9 | “The underlying molecular basis of FH is the presence of mutations in one or more genes in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin 9 (PCSK9).” | 0.98 | hgnc_dict_v1 |
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.
PMID 29213121 | PMCID PMC5719081 | DOI 10.1038/s41598-017-17181-9 · Scientific reports · 2017 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “Mutations in the LDLR, APOB, and PCSK9 genes are known to cause FH.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “Mutations in the LDLR, APOB, and PCSK9 genes are known to cause FH.” | 0.98 | hgnc_dict_v1 |
| gene | PCSK9 | “Mutations in the LDLR, APOB, and PCSK9 genes are known to cause FH.” | 0.98 | hgnc_dict_v1 |
Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
PMID 27878139 | DOI 10.18388/abp.2016_1283 · Acta biochimica Polonica · 2017 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOB | “In order to find the causative genetic variant in this family, direct exon sequencing of the LDLR, APOB and PCSK9 genes was performed.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.” | 0.98 | hgnc_dict_v1 |
| gene | PCSK9 | “In order to find the causative genetic variant in this family, direct exon sequencing of the LDLR, APOB and PCSK9 genes was performed.” | 0.98 | hgnc_dict_v1 |