Kenmerk
Fever
Body temperature elevated above the normal range.
Samenvatting
- Ook bekend als
- Hyperthermia, Pyrexia
- Lichaamssysteem
- Laboratory abnormality
ReferentiegenoomGRCh38hg38
Posities op gen- en variantpagina's volgen deze keuze, in deze browser.
Read the genes linked to Fever, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen363 genen gekoppeld aan Fever
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Fever voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CASKcalcium/calmodulin dependent serine protein kinase | Altijd | In 1 aandoening |
| CR2complement C3d receptor 2 | Altijd | In 2 aandoeningen |
| CYBBcytochrome b-245 beta chain | Altijd | In 2 aandoeningen |
| CYBC1cytochrome b-245 chaperone 1 | Altijd | In 2 aandoeningen |
| DNASE2deoxyribonuclease 2, lysosomal | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| DSTdystonin | Altijd | In 2 aandoeningen |
| EDAectodysplasin A | Altijd | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| G6PDglucose-6-phosphate dehydrogenase | Altijd | In 1 aandoening |
| IFNGinterferon gamma | Altijd | In 1 aandoening |
| IL27RAinterleukin 27 receptor subunit alpha | Altijd | In 1 aandoening |
| IRF1interferon regulatory factor 1 | Altijd | In 1 aandoening |
| IRF8interferon regulatory factor 8 | Altijd | In 3 aandoeningen |
| KLHL7kelch like family member 7 | Altijd | In 1 aandoening |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| LIFRLIF receptor subunit alpha | Altijd | In 1 aandoening |
| LIPAlipase A, lysosomal acid type | Altijd | In 2 aandoeningen |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MCM10minichromosome maintenance 10 replication initiation factor | Altijd | In 1 aandoening |
| NFU1NFU1 iron-sulfur cluster scaffold | Altijd | In 1 aandoening |
| NHEJ1non-homologous end joining factor 1 | Altijd | In 1 aandoening |
| NLRC4NLR family CARD domain containing 4 | Altijd | In 2 aandoeningen |
| NLRP3NLR family pyrin domain containing 3 | Altijd | In 5 aandoeningen |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| OTULINOTU deubiquitinase with linear linkage specificity | Altijd | In 1 aandoening |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Altijd | In 1 aandoening |
| POMPproteasome maturation protein | Altijd | In 1 aandoening |
| PSMB9proteasome 20S subunit beta 9 | Altijd | In 1 aandoening |
| PTCRApre T cell antigen receptor alpha | Altijd | In 1 aandoening |
| PTPRCprotein tyrosine phosphatase receptor type C | Altijd | In 1 aandoening |
| RAB27ARAB27A, member RAS oncogene family | Altijd | In 2 aandoeningen |
| RAG1recombination activating 1 | Altijd | In 3 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RPL17ribosomal protein L17 | Altijd | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Altijd | In 1 aandoening |
| STX11syntaxin 11 | Altijd | In 2 aandoeningen |
| STXBP2syntaxin binding protein 2 | Altijd | In 2 aandoeningen |
| TOP2BDNA topoisomerase II beta | Altijd | In 1 aandoening |
Toon nog 323 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACAT1acetyl-CoA acetyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ALDOAaldolase, fructose-bisphosphate A | Heel vaak (80–99%) | In 1 aandoening |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Heel vaak (80–99%) | In 1 aandoening |
| BCL10BCL10 immune signaling adaptor | Heel vaak (80–99%) | In 1 aandoening |
| BCL2BCL2 apoptosis regulator | Heel vaak (80–99%) | In 1 aandoening |
| BCL6BCL6 transcription repressor | Heel vaak (80–99%) | In 1 aandoening |
| BIRC3baculoviral IAP repeat containing 3 | Heel vaak (80–99%) | In 1 aandoening |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| BLNKB cell linker | Heel vaak (80–99%) | In 1 aandoening |
| BTKBruton tyrosine kinase | Heel vaak (80–99%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Heel vaak (80–99%) | In 2 aandoeningen |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Heel vaak (80–99%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CD4CD4 molecule | Heel vaak (80–99%) | In 1 aandoening |
| CD79ACD79a molecule | Heel vaak (80–99%) | In 1 aandoening |
| CD79BCD79b molecule | Heel vaak (80–99%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Heel vaak (80–99%) | In 3 aandoeningen |
| CYBAcytochrome b-245 alpha chain | Heel vaak (80–99%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| DNASE1deoxyribonuclease 1 | Heel vaak (80–99%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| ETS1ETS proto-oncogene 1, transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| FASFas cell surface death receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| FCGR2BFc gamma receptor IIb | Heel vaak (80–99%) | In 1 aandoening |
| FCGR3BFc gamma receptor IIIb | Heel vaak (80–99%) | In 2 aandoeningen |
| FOXP1forkhead box P1 | Heel vaak (80–99%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Heel vaak (80–99%) | In 5 aandoeningen |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Heel vaak (80–99%) | In 8 aandoeningen |
| IFNGR1interferon gamma receptor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| IGHimmunoglobulin heavy locus | Heel vaak (80–99%) | In 3 aandoeningen |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Heel vaak (80–99%) | In 1 aandoening |
| IGHMimmunoglobulin heavy constant mu | Heel vaak (80–99%) | In 1 aandoening |
| IGLL1immunoglobulin lambda like polypeptide 1 | Heel vaak (80–99%) | In 1 aandoening |
| IKZF1IKAROS family zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| IL10interleukin 10 | Heel vaak (80–99%) | In 3 aandoeningen |
| IL12Ainterleukin 12A | Heel vaak (80–99%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Heel vaak (80–99%) | In 1 aandoening |
| IL12Binterleukin 12B | Heel vaak (80–99%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Heel vaak (80–99%) | In 1 aandoening |
| IL6interleukin 6 | Heel vaak (80–99%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| IRF4interferon regulatory factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| IRF5interferon regulatory factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| ITGAMintegrin subunit alpha M | Heel vaak (80–99%) | In 1 aandoening |
| JAZF1JAZF zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| KIAA0319LKIAA0319 like | Heel vaak (80–99%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Heel vaak (80–99%) | In 1 aandoening |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LPIN1lipin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| LPIN2lipin 2 | Heel vaak (80–99%) | In 1 aandoening |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Heel vaak (80–99%) | In 1 aandoening |
| MALT1MALT1 paracaspase | Heel vaak (80–99%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Heel vaak (80–99%) | In 2 aandoeningen |
| MIFmacrophage migration inhibitory factor | Heel vaak (80–99%) | In 1 aandoening |
| MLXMAX dimerization protein MLX | Heel vaak (80–99%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Heel vaak (80–99%) | In 2 aandoeningen |
| NCF1neutrophil cytosolic factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NCF2neutrophil cytosolic factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| NCF4neutrophil cytosolic factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Heel vaak (80–99%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Heel vaak (80–99%) | In 1 aandoening |
| PDCD1programmed cell death 1 | Heel vaak (80–99%) | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Heel vaak (80–99%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| PRF1perforin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PRTN3proteinase 3 | Heel vaak (80–99%) | In 1 aandoening |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Heel vaak (80–99%) | In 4 aandoeningen |
| PXKPX domain containing serine/threonine kinase like | Heel vaak (80–99%) | In 1 aandoening |
| SPI1Spi-1 proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| STAT4signal transducer and activator of transcription 4 | Heel vaak (80–99%) | In 3 aandoeningen |
| TCF3transcription factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| TLR4toll like receptor 4 | Heel vaak (80–99%) | In 1 aandoening |
| TLR7toll like receptor 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| TNFAIP3TNF alpha induced protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| TNFSF4TNF superfamily member 4 | Heel vaak (80–99%) | In 1 aandoening |
| TNIP1TNFAIP3 interacting protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| UBAC2UBA domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Heel vaak (80–99%) | In 1 aandoening |
| UNC13Dunc-13 homolog D | Heel vaak (80–99%) | In 2 aandoeningen |
| WASWASP actin nucleation promoting factor | Heel vaak (80–99%) | In 1 aandoening |
| XIAPX-linked inhibitor of apoptosis | Heel vaak (80–99%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| ADAadenosine deaminase | Vaak (30–79%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| AK2adenylate kinase 2 | Vaak (30–79%) | In 1 aandoening |
| ALKALK receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Vaak (30–79%) | In 1 aandoening |
| AQP2aquaporin 2 | Vaak (30–79%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| AVParginine vasopressin | Vaak (30–79%) | In 1 aandoening |
| AVPR2arginine vasopressin receptor 2 | Vaak (30–79%) | In 1 aandoening |
| BCORBCL6 corepressor | Vaak (30–79%) | In 1 aandoening |
| BCRBCR activator of RhoGEF and GTPase | Vaak (30–79%) | In 1 aandoening |
| BTNL2butyrophilin like 2 | Vaak (30–79%) | In 1 aandoening |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Vaak (30–79%) | In 2 aandoeningen |
| CALRcalreticulin | Vaak (30–79%) | In 3 aandoeningen |
| CCND1cyclin D1 | Vaak (30–79%) | In 1 aandoening |
| CD247CD247 molecule | Vaak (30–79%) | In 1 aandoening |
| CD27CD27 molecule | Vaak (30–79%) | In 1 aandoening |
| CD3DCD3 delta subunit of T-cell receptor complex | Vaak (30–79%) | In 1 aandoening |
| CD3ECD3 epsilon subunit of T-cell receptor complex | Vaak (30–79%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| CPT2carnitine palmitoyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| DCLRE1CDNA cross-link repair 1C | Vaak (30–79%) | In 1 aandoening |
| ELANEelastase, neutrophil expressed | Vaak (30–79%) | In 2 aandoeningen |
| F5coagulation factor V | Vaak (30–79%) | In 1 aandoening |
| FAHfumarylacetoacetate hydrolase | Vaak (30–79%) | In 1 aandoening |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Vaak (30–79%) | In 1 aandoening |
| GATA2GATA binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| GFI1growth factor independent 1 transcriptional repressor | Vaak (30–79%) | In 1 aandoening |
| GPR35G protein-coupled receptor 35 | Vaak (30–79%) | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 1 aandoening |
| HAVCR2hepatitis A virus cellular receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| IL1R1interleukin 1 receptor type 1 | Vaak (30–79%) | In 1 aandoening |
| IL2RGinterleukin 2 receptor subunit gamma | Vaak (30–79%) | In 1 aandoening |
| IL36RNinterleukin 36 receptor antagonist | Vaak (30–79%) | In 2 aandoeningen |
| IL7Rinterleukin 7 receptor | Vaak (30–79%) | In 2 aandoeningen |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| JAK2Janus kinase 2 | Vaak (30–79%) | In 3 aandoeningen |
| KITKIT proto-oncogene, receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| LBRlamin B receptor | Vaak (30–79%) | In 1 aandoening |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Vaak (30–79%) | In 1 aandoening |
| LMO1LIM domain only 1 | Vaak (30–79%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Vaak (30–79%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 1 aandoening |
| MRPS7mitochondrial ribosomal protein S7 | Vaak (30–79%) | In 1 aandoening |
| MST1macrophage stimulating 1 | Vaak (30–79%) | In 1 aandoening |
| MTHFSmethenyltetrahydrofolate synthetase | Vaak (30–79%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Vaak (30–79%) | In 1 aandoening |
| NABP1nucleic acid binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Vaak (30–79%) | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| NPM1nucleophosmin 1 | Vaak (30–79%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| NUDCD3NudC domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| NUMA1nuclear mitotic apparatus protein 1 | Vaak (30–79%) | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Vaak (30–79%) | In 1 aandoening |
| PMLPML nuclear body scaffold | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| PSMB10proteasome 20S subunit beta 10 | Vaak (30–79%) | In 1 aandoening |
| RAG2recombination activating 2 | Vaak (30–79%) | In 2 aandoeningen |
| RANBP2RAN binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| RARAretinoic acid receptor alpha | Vaak (30–79%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Vaak (30–79%) | In 1 aandoening |
| RUNX1RUNX family transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Vaak (30–79%) | In 1 aandoening |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| SCYL1SCY1 like pseudokinase 1 | Vaak (30–79%) | In 1 aandoening |
| SEMA4Dsemaphorin 4D | Vaak (30–79%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Vaak (30–79%) | In 1 aandoening |
| SRP19signal recognition particle 19 | Vaak (30–79%) | In 1 aandoening |
| SRSF2serine and arginine rich splicing factor 2 | Vaak (30–79%) | In 1 aandoening |
| STAT1signal transducer and activator of transcription 1 | Vaak (30–79%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 2 aandoeningen |
| STAT5Bsignal transducer and activator of transcription 5B | Vaak (30–79%) | In 1 aandoening |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TBL1XR1TBL1X/Y related 1 | Vaak (30–79%) | In 1 aandoening |
| TCF4transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Vaak (30–79%) | In 1 aandoening |
| TET2tet methylcytosine dioxygenase 2 | Vaak (30–79%) | In 2 aandoeningen |
| TICAM1TIR domain containing adaptor molecule 1 | Vaak (30–79%) | In 1 aandoening |
| TLR3toll like receptor 3 | Vaak (30–79%) | In 1 aandoening |
| TRAF3TNF receptor associated factor 3 | Vaak (30–79%) | In 1 aandoening |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Vaak (30–79%) | In 1 aandoening |
| UNC93B1unc-93B1 regulator of TLR signaling | Vaak (30–79%) | In 1 aandoening |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Vaak (30–79%) | In 1 aandoening |
| ZBTB16zinc finger and BTB domain containing 16 | Vaak (30–79%) | In 1 aandoening |
| ABCC2ATP binding cassette subfamily C member 2 | Soms (5–29%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Soms (5–29%) | In 1 aandoening |
| ACTN4actinin alpha 4 | Soms (5–29%) | In 1 aandoening |
| ANK1ankyrin 1 | Soms (5–29%) | In 1 aandoening |
| ANKFY1ankyrin repeat and FYVE domain containing 1 | Soms (5–29%) | In 1 aandoening |
| ANKHANKH inorganic pyrophosphate transport regulator | Soms (5–29%) | In 1 aandoening |
| ANLNanillin, actin binding protein | Soms (5–29%) | In 1 aandoening |
| APOL1apolipoprotein L1 | Soms (5–29%) | In 1 aandoening |
| ARHGAP24Rho GTPase activating protein 24 | Soms (5–29%) | In 1 aandoening |
| ARHGDIARho GDP dissociation inhibitor alpha | Soms (5–29%) | In 1 aandoening |
| ATP13A2ATPase cation transporting 13A2 | Soms (5–29%) | In 1 aandoening |
| AVILadvillin | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 2 aandoeningen |
| CD2APCD2 associated protein | Soms (5–29%) | In 1 aandoening |
| CFTRCF transmembrane conductance regulator | Soms (5–29%) | In 2 aandoeningen |
| COL4A3collagen type IV alpha 3 chain | Soms (5–29%) | In 1 aandoening |
| COQ8Bcoenzyme Q8B | Soms (5–29%) | In 1 aandoening |
| CRB2crumbs cell polarity complex component 2 | Soms (5–29%) | In 1 aandoening |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Soms (5–29%) | In 1 aandoening |
| DAAM2dishevelled associated activator of morphogenesis 2 | Soms (5–29%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Soms (5–29%) | In 1 aandoening |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Soms (5–29%) | In 1 aandoening |
| EMP2epithelial membrane protein 2 | Soms (5–29%) | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| EPB42erythrocyte membrane protein band 4.2 | Soms (5–29%) | In 1 aandoening |
| GAPVD1GTPase activating protein and VPS9 domains 1 | Soms (5–29%) | In 1 aandoening |
| GLAgalactosidase alpha | Soms (5–29%) | In 1 aandoening |
| GPC3glypican 3 | Soms (5–29%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Soms (5–29%) | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Soms (5–29%) | In 1 aandoening |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Soms (5–29%) | In 2 aandoeningen |
| IFIH1interferon induced with helicase C domain 1 | Soms (5–29%) | In 1 aandoening |
| INF2inverted formin 2 | Soms (5–29%) | In 1 aandoening |
| IRAK4interleukin 1 receptor associated kinase 4 | Soms (5–29%) | In 1 aandoening |
| KANK2KN motif and ankyrin repeat domains 2 | Soms (5–29%) | In 1 aandoening |
| LAMA5laminin subunit alpha 5 | Soms (5–29%) | In 1 aandoening |
| MAGI2membrane associated guanylate kinase, WW and PDZ domain containing 2 | Soms (5–29%) | In 1 aandoening |
| MPLMPL proto-oncogene, thrombopoietin receptor | Soms (5–29%) | In 2 aandoeningen |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Soms (5–29%) | In 1 aandoening |
| MT-CYBmitochondrially encoded cytochrome b | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 2 aandoeningen |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 2 aandoeningen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 2 aandoeningen |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Soms (5–29%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Soms (5–29%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 2 aandoeningen |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Soms (5–29%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 2 aandoeningen |
| MYD88MYD88 innate immune signal transduction adaptor | Soms (5–29%) | In 2 aandoeningen |
| MYO1Emyosin IE | Soms (5–29%) | In 1 aandoening |
| NPHS1NPHS1 adhesion molecule, nephrin | Soms (5–29%) | In 1 aandoening |
| NPHS2NPHS2 stomatin family member, podocin | Soms (5–29%) | In 1 aandoening |
| NUP107nucleoporin 107 | Soms (5–29%) | In 1 aandoening |
| NUP133nucleoporin 133 | Soms (5–29%) | In 1 aandoening |
| NUP160nucleoporin 160 | Soms (5–29%) | In 1 aandoening |
| NUP205nucleoporin 205 | Soms (5–29%) | In 1 aandoening |
| NUP37nucleoporin 37 | Soms (5–29%) | In 1 aandoening |
| NUP85nucleoporin 85 | Soms (5–29%) | In 1 aandoening |
| NUP93nucleoporin 93 | Soms (5–29%) | In 1 aandoening |
| PAX2paired box 2 | Soms (5–29%) | In 1 aandoening |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Soms (5–29%) | In 1 aandoening |
| PLCE1phospholipase C epsilon 1 | Soms (5–29%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Soms (5–29%) | In 1 aandoening |
| POU6F2POU class 6 homeobox 2 | Soms (5–29%) | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Soms (5–29%) | In 2 aandoeningen |
| PTPN3protein tyrosine phosphatase non-receptor type 3 | Soms (5–29%) | In 1 aandoening |
| PTPROprotein tyrosine phosphatase receptor type O | Soms (5–29%) | In 1 aandoening |
| RESTRE1 silencing transcription factor | Soms (5–29%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| ROS1ROS proto-oncogene 1, receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| SCNN1Asodium channel epithelial 1 subunit alpha | Soms (5–29%) | In 1 aandoening |
| SCNN1Bsodium channel epithelial 1 subunit beta | Soms (5–29%) | In 1 aandoening |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Soms (5–29%) | In 1 aandoening |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Soms (5–29%) | In 1 aandoening |
| SPTA1spectrin alpha, erythrocytic 1 | Soms (5–29%) | In 2 aandoeningen |
| SPTBspectrin beta, erythrocytic | Soms (5–29%) | In 2 aandoeningen |
| SPTBN1spectrin beta, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| TBC1D8BTBC1 domain family member 8B | Soms (5–29%) | In 1 aandoening |
| THtyrosine hydroxylase | Soms (5–29%) | In 1 aandoening |
| TNFRSF11BTNF receptor superfamily member 11b | Soms (5–29%) | In 1 aandoening |
| TRIM28tripartite motif containing 28 | Soms (5–29%) | In 1 aandoening |
| TRIP13thyroid hormone receptor interactor 13 | Soms (5–29%) | In 1 aandoening |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Soms (5–29%) | In 1 aandoening |
| TSC1TSC complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| TSC2TSC complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| TSPOAP1TSPO associated protein 1 | Soms (5–29%) | In 1 aandoening |
| WT1WT1 transcription factor | Soms (5–29%) | In 2 aandoeningen |
| ZFYVE19zinc finger FYVE-type containing 19 | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| CD28CD28 molecule | Zelden (1–4%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Zelden (1–4%) | In 1 aandoening |
| EPB41erythrocyte membrane protein band 4.1 | Zelden (1–4%) | In 1 aandoening |
| GYPCglycophorin C (Gerbich blood group) | Zelden (1–4%) | In 1 aandoening |
| NAB2NGFI-A binding protein 2 | Zelden (1–4%) | In 1 aandoening |
| RB1RB transcriptional corepressor 1 | Zelden (1–4%) | In 1 aandoening |
| SLC34A2solute carrier family 34 member 2 | Zelden (1–4%) | In 1 aandoening |
| SLC5A1solute carrier family 5 member 1 | Zelden (1–4%) | In 1 aandoening |
| STAT6signal transducer and activator of transcription 6 | Zelden (1–4%) | In 1 aandoening |
| TNFRSF1BTNF receptor superfamily member 1B | Zelden (1–4%) | In 1 aandoening |
| TP53tumor protein p53 | Zelden (1–4%) | In 1 aandoening |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Zelden (1–4%) | In 1 aandoening |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Niet vastgelegd | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| BACH2BACH transcriptional regulator 2 | Niet vastgelegd | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Niet vastgelegd | In 1 aandoening |
| CD244CD244 molecule | Niet vastgelegd | In 1 aandoening |
| CFHcomplement factor H | Niet vastgelegd | In 1 aandoening |
| CFHR1complement factor H related 1 | Niet vastgelegd | In 1 aandoening |
| CFHR3complement factor H related 3 | Niet vastgelegd | In 1 aandoening |
| CIITAclass II major histocompatibility complex transactivator | Niet vastgelegd | In 1 aandoening |
| CPOXcoproporphyrinogen oxidase | Niet vastgelegd | In 1 aandoening |
| CTRCchymotrypsin C | Niet vastgelegd | In 1 aandoening |
| CYP21A2cytochrome P450 family 21 subfamily A member 2 | Niet vastgelegd | In 1 aandoening |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Niet vastgelegd | In 1 aandoening |
| FBP1fructose-bisphosphatase 1 | Niet vastgelegd | In 1 aandoening |
| GAAalpha glucosidase | Niet vastgelegd | In 1 aandoening |
| HTR1A5-hydroxytryptamine receptor 1A | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| KIF1Bkinesin family member 1B | Niet vastgelegd | In 1 aandoening |
| KRT18keratin 18 | Niet vastgelegd | In 1 aandoening |
| NFKBIL1NFKB inhibitor like 1 | Niet vastgelegd | In 1 aandoening |
| NGLY1N-glycanase 1 | Niet vastgelegd | In 1 aandoening |
| PRSS1serine protease 1 | Niet vastgelegd | In 1 aandoening |
| PRSS2serine protease 2 | Niet vastgelegd | In 1 aandoening |
| SH2B3SH2B adaptor protein 3 | Niet vastgelegd | In 1 aandoening |
| SLC12A1solute carrier family 12 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC19A3solute carrier family 19 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC22A4solute carrier family 22 member 4 | Niet vastgelegd | In 1 aandoening |
| SPINK1serine peptidase inhibitor Kazal type 1 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
Eén test. Een leven lang antwoorden.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken