Tunnus
Elevated serum cholesterol
Kliiniline nimetus: Hypercholesterolemia
An increased concentration of cholesterol in the blood.
Kokkuvõte
- Teised nimetused
- Elevated total cholesterol, High cholesterol, Increased total cholesterol
- Kehasüsteem
- Laboratory abnormality
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Elevated serum cholesterol, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test77 geeni on seotud tunnusega Elevated serum cholesterol
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Elevated serum cholesterol. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCG5ATP binding cassette subfamily G member 5 | Alati | Esineb 3 haiguses |
| ABCG8ATP binding cassette subfamily G member 8 | Alati | Esineb 3 haiguses |
| ALBalbumin | Alati | Esineb 2 haiguses |
| APOA4apolipoprotein A4 | Alati | Esineb 1 haiguses |
| APOBapolipoprotein B | Alati | Esineb 2 haiguses |
| APOC2apolipoprotein C2 | Alati | Esineb 1 haiguses |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alati | Esineb 1 haiguses |
| BUD13BUD13 spliceosome associated protein | Alati | Esineb 1 haiguses |
| CREB3L3cAMP responsive element binding protein 3 like 3 | Alati | Esineb 1 haiguses |
| DGAT1diacylglycerol O-acyltransferase 1 | Alati | Esineb 1 haiguses |
| LDLRlow density lipoprotein receptor | Alati | Esineb 1 haiguses |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Alati | Esineb 2 haiguses |
| LIPClipase C, hepatic type | Alati | Esineb 1 haiguses |
| LMNAlamin A/C | Alati | Esineb 3 haiguses |
| LPLlipoprotein lipase | Alati | Esineb 2 haiguses |
| NPHS1NPHS1 adhesion molecule, nephrin | Alati | Esineb 1 haiguses |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Alati | Esineb 2 haiguses |
| SLC25A36solute carrier family 25 member 36 | Alati | Esineb 1 haiguses |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Alati | Esineb 2 haiguses |
| VMA22vacuolar ATPase assembly factor VMA22 | Alati | Esineb 1 haiguses |
| APOEapolipoprotein E | Väga sageli (80–99%) | Esineb 2 haiguses |
| CYP7A1cytochrome P450 family 7 subfamily A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LIPAlipase A, lysosomal acid type | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC37A4solute carrier family 37 member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| VMA12vacuolar ATPase assembly factor VMA12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| APTXaprataxin | Sageli (30–79%) | Esineb 1 haiguses |
| CAV1caveolin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CEP19centrosomal protein 19 | Sageli (30–79%) | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Sageli (30–79%) | Esineb 1 haiguses |
| DYRK1Bdual specificity tyrosine phosphorylation regulated kinase 1B | Sageli (30–79%) | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Sageli (30–79%) | Esineb 1 haiguses |
| IL12Ainterleukin 12A | Sageli (30–79%) | Esineb 1 haiguses |
| IL12RB1interleukin 12 receptor subunit beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IRF5interferon regulatory factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KIF12kinesin family member 12 | Sageli (30–79%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 1 haiguses |
| MEF2Amyocyte enhancer factor 2A | Sageli (30–79%) | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MMEL1membrane metalloendopeptidase like 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 37 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NPAP1nuclear pore associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PHKBphosphorylase kinase regulatory subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| POU2AF1POU class 2 homeobox associating factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC7A7solute carrier family 7 member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPIBSpi-B transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TNFSF15TNF superfamily member 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TNPO3transportin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TSHBthyroid stimulating hormone subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| ABCB4ATP binding cassette subfamily B member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAV3caveolin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DIO1iodothyronine deiodinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GHRgrowth hormone receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT56intraflagellar transport 56 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MYO5Bmyosin VB | Mõnikord (5–29%) | Esineb 1 haiguses |
| NUP107nucleoporin 107 | Mõnikord (5–29%) | Esineb 2 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SETXsenataxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A13solute carrier family 25 member 13 | Mõnikord (5–29%) | Esineb 3 haiguses |
| GALK1galactokinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Pole registreeritud | Esineb 1 haiguses |
| PYGLglycogen phosphorylase L | Pole registreeritud | Esineb 1 haiguses |
| RSPO1R-spondin 1 | Pole registreeritud | Esineb 1 haiguses |
| TBL1Xtransducin beta like 1 X-linked | Pole registreeritud | Esineb 1 haiguses |
| TTPAalpha tocopherol transfer protein | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast