Trait
Elevated serum cholesterol
Clinical name: Hypercholesterolemia
An increased concentration of cholesterol in the blood.
Summary
- Also called
- Elevated total cholesterol, High cholesterol, Increased total cholesterol
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test77 genes linked to Elevated serum cholesterol
Changes in these genes cause rare conditions in which Elevated serum cholesterol is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABCG5ATP binding cassette subfamily G member 5 | Always | In 3 conditions |
| ABCG8ATP binding cassette subfamily G member 8 | Always | In 3 conditions |
| ALBalbumin | Always | In 2 conditions |
| APOA4apolipoprotein A4 | Always | In 1 condition |
| APOBapolipoprotein B | Always | In 2 conditions |
| APOC2apolipoprotein C2 | Always | In 1 condition |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Always | In 1 condition |
| BUD13BUD13 spliceosome associated protein | Always | In 1 condition |
| CREB3L3cAMP responsive element binding protein 3 like 3 | Always | In 1 condition |
| DGAT1diacylglycerol O-acyltransferase 1 | Always | In 1 condition |
| LDLRlow density lipoprotein receptor | Always | In 1 condition |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Always | In 2 conditions |
| LIPClipase C, hepatic type | Always | In 1 condition |
| LMNAlamin A/C | Always | In 3 conditions |
| LPLlipoprotein lipase | Always | In 2 conditions |
| NPHS1NPHS1 adhesion molecule, nephrin | Always | In 1 condition |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Always | In 2 conditions |
| SLC25A36solute carrier family 25 member 36 | Always | In 1 condition |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Always | In 2 conditions |
| VMA22vacuolar ATPase assembly factor VMA22 | Always | In 1 condition |
| APOEapolipoprotein E | Very often (80–99%) | In 2 conditions |
| CYP7A1cytochrome P450 family 7 subfamily A member 1 | Very often (80–99%) | In 1 condition |
| LIPAlipase A, lysosomal acid type | Very often (80–99%) | In 2 conditions |
| SLC37A4solute carrier family 37 member 4 | Very often (80–99%) | In 1 condition |
| VMA12vacuolar ATPase assembly factor VMA12 | Very often (80–99%) | In 1 condition |
| APTXaprataxin | Often (30–79%) | In 1 condition |
| CAV1caveolin 1 | Often (30–79%) | In 2 conditions |
| CEP19centrosomal protein 19 | Often (30–79%) | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Often (30–79%) | In 1 condition |
| DYRK1Bdual specificity tyrosine phosphorylation regulated kinase 1B | Often (30–79%) | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Often (30–79%) | In 1 condition |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 1 condition |
| IL12Ainterleukin 12A | Often (30–79%) | In 1 condition |
| IL12RB1interleukin 12 receptor subunit beta 1 | Often (30–79%) | In 1 condition |
| IRF5interferon regulatory factor 5 | Often (30–79%) | In 1 condition |
| KIF12kinesin family member 12 | Often (30–79%) | In 1 condition |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 1 condition |
| MEF2Amyocyte enhancer factor 2A | Often (30–79%) | In 1 condition |
| MKRN3makorin ring finger protein 3 | Often (30–79%) | In 1 condition |
| MMEL1membrane metalloendopeptidase like 1 | Often (30–79%) | In 1 condition |
Show 37 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NPAP1nuclear pore associated protein 1 | Often (30–79%) | In 1 condition |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Often (30–79%) | In 2 conditions |
| PHKBphosphorylase kinase regulatory subunit beta | Often (30–79%) | In 1 condition |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Often (30–79%) | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Often (30–79%) | In 1 condition |
| POU2AF1POU class 2 homeobox associating factor 1 | Often (30–79%) | In 1 condition |
| PWAR1Prader Willi/Angelman region RNA 1 | Often (30–79%) | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 2 conditions |
| SLC7A7solute carrier family 7 member 7 | Often (30–79%) | In 1 condition |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Often (30–79%) | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Often (30–79%) | In 1 condition |
| SPIBSpi-B transcription factor | Often (30–79%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Often (30–79%) | In 1 condition |
| TNFSF15TNF superfamily member 15 | Often (30–79%) | In 1 condition |
| TNPO3transportin 3 | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| ABCB4ATP binding cassette subfamily B member 4 | Sometimes (5–29%) | In 1 condition |
| CAV3caveolin 3 | Sometimes (5–29%) | In 1 condition |
| DIO1iodothyronine deiodinase 1 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 2 conditions |
| GHRgrowth hormone receptor | Sometimes (5–29%) | In 1 condition |
| IFT56intraflagellar transport 56 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 2 conditions |
| MYO5Bmyosin VB | Sometimes (5–29%) | In 1 condition |
| NUP107nucleoporin 107 | Sometimes (5–29%) | In 2 conditions |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 2 conditions |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 2 conditions |
| SETXsenataxin | Sometimes (5–29%) | In 1 condition |
| SLC25A13solute carrier family 25 member 13 | Sometimes (5–29%) | In 3 conditions |
| GALK1galactokinase 1 | Rarely (1–4%) | In 1 condition |
| JAG1jagged canonical Notch ligand 1 | Not recorded | In 1 condition |
| PYGLglycogen phosphorylase L | Not recorded | In 1 condition |
| RSPO1R-spondin 1 | Not recorded | In 1 condition |
| TBL1Xtransducin beta like 1 X-linked | Not recorded | In 1 condition |
| TTPAalpha tocopherol transfer protein | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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