Egenskap
Fever
Body temperature elevated above the normal range.
Sammendrag
- Også kalt
- Hyperthermia, Pyrexia
- Kroppssystem
- Laboratory abnormality
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Fever forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CASKcalcium/calmodulin dependent serine protein kinase | Alltid | I 1 tilstand |
| CR2complement C3d receptor 2 | Alltid | I 2 tilstander |
| CYBBcytochrome b-245 beta chain | Alltid | I 2 tilstander |
| CYBC1cytochrome b-245 chaperone 1 | Alltid | I 2 tilstander |
| DNASE2deoxyribonuclease 2, lysosomal | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| DSTdystonin | Alltid | I 2 tilstander |
| EDAectodysplasin A | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| G6PDglucose-6-phosphate dehydrogenase | Alltid | I 1 tilstand |
| IFNGinterferon gamma | Alltid | I 1 tilstand |
| IL27RAinterleukin 27 receptor subunit alpha | Alltid | I 1 tilstand |
| IRF1interferon regulatory factor 1 | Alltid | I 1 tilstand |
| IRF8interferon regulatory factor 8 | Alltid | I 3 tilstander |
| KLHL7kelch like family member 7 | Alltid | I 1 tilstand |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Alltid | I 1 tilstand |
| LIPAlipase A, lysosomal acid type | Alltid | I 2 tilstander |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alltid | I 1 tilstand |
| MCM10minichromosome maintenance 10 replication initiation factor | Alltid | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Alltid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Alltid | I 1 tilstand |
| NLRC4NLR family CARD domain containing 4 | Alltid | I 2 tilstander |
| NLRP3NLR family pyrin domain containing 3 | Alltid | I 5 tilstander |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| OTULINOTU deubiquitinase with linear linkage specificity | Alltid | I 1 tilstand |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Alltid | I 1 tilstand |
| POMPproteasome maturation protein | Alltid | I 1 tilstand |
| PSMB9proteasome 20S subunit beta 9 | Alltid | I 1 tilstand |
| PTCRApre T cell antigen receptor alpha | Alltid | I 1 tilstand |
| PTPRCprotein tyrosine phosphatase receptor type C | Alltid | I 1 tilstand |
| RAB27ARAB27A, member RAS oncogene family | Alltid | I 2 tilstander |
| RAG1recombination activating 1 | Alltid | I 3 tilstander |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RPL17ribosomal protein L17 | Alltid | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Alltid | I 1 tilstand |
| STX11syntaxin 11 | Alltid | I 2 tilstander |
| STXBP2syntaxin binding protein 2 | Alltid | I 2 tilstander |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
Vis 323 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACAT1acetyl-CoA acetyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Svært ofte (80–99 %) | I 1 tilstand |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Svært ofte (80–99 %) | I 1 tilstand |
| BCL2BCL2 apoptosis regulator | Svært ofte (80–99 %) | I 1 tilstand |
| BCL6BCL6 transcription repressor | Svært ofte (80–99 %) | I 1 tilstand |
| BIRC3baculoviral IAP repeat containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BLNKB cell linker | Svært ofte (80–99 %) | I 1 tilstand |
| BTKBruton tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Svært ofte (80–99 %) | I 2 tilstander |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CD4CD4 molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CD79ACD79a molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CD79BCD79b molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Svært ofte (80–99 %) | I 3 tilstander |
| CYBAcytochrome b-245 alpha chain | Svært ofte (80–99 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DNASE1deoxyribonuclease 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| ETS1ETS proto-oncogene 1, transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| FASFas cell surface death receptor | Svært ofte (80–99 %) | I 2 tilstander |
| FCGR2BFc gamma receptor IIb | Svært ofte (80–99 %) | I 1 tilstand |
| FCGR3BFc gamma receptor IIIb | Svært ofte (80–99 %) | I 2 tilstander |
| FOXP1forkhead box P1 | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Svært ofte (80–99 %) | I 5 tilstander |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Svært ofte (80–99 %) | I 8 tilstander |
| IFNGR1interferon gamma receptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| IGHimmunoglobulin heavy locus | Svært ofte (80–99 %) | I 3 tilstander |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Svært ofte (80–99 %) | I 1 tilstand |
| IGHMimmunoglobulin heavy constant mu | Svært ofte (80–99 %) | I 1 tilstand |
| IGLL1immunoglobulin lambda like polypeptide 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IL10interleukin 10 | Svært ofte (80–99 %) | I 3 tilstander |
| IL12Ainterleukin 12A | Svært ofte (80–99 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IL12Binterleukin 12B | Svært ofte (80–99 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Svært ofte (80–99 %) | I 1 tilstand |
| IL6interleukin 6 | Svært ofte (80–99 %) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| IRF4interferon regulatory factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| ITGAMintegrin subunit alpha M | Svært ofte (80–99 %) | I 1 tilstand |
| JAZF1JAZF zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KIAA0319LKIAA0319 like | Svært ofte (80–99 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Svært ofte (80–99 %) | I 1 tilstand |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LPIN1lipin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| LPIN2lipin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Svært ofte (80–99 %) | I 1 tilstand |
| MALT1MALT1 paracaspase | Svært ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Svært ofte (80–99 %) | I 2 tilstander |
| MIFmacrophage migration inhibitory factor | Svært ofte (80–99 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Svært ofte (80–99 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Svært ofte (80–99 %) | I 2 tilstander |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Svært ofte (80–99 %) | I 2 tilstander |
| NCF1neutrophil cytosolic factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NCF2neutrophil cytosolic factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NCF4neutrophil cytosolic factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Svært ofte (80–99 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PDCD1programmed cell death 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PRF1perforin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PRTN3proteinase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Svært ofte (80–99 %) | I 4 tilstander |
| PXKPX domain containing serine/threonine kinase like | Svært ofte (80–99 %) | I 1 tilstand |
| SPI1Spi-1 proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| STAT4signal transducer and activator of transcription 4 | Svært ofte (80–99 %) | I 3 tilstander |
| TCF3transcription factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TLR7toll like receptor 7 | Svært ofte (80–99 %) | I 2 tilstander |
| TNFAIP3TNF alpha induced protein 3 | Svært ofte (80–99 %) | I 1 tilstand |
| TNFSF4TNF superfamily member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TNIP1TNFAIP3 interacting protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Svært ofte (80–99 %) | I 2 tilstander |
| UBAC2UBA domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Svært ofte (80–99 %) | I 1 tilstand |
| UNC13Dunc-13 homolog D | Svært ofte (80–99 %) | I 2 tilstander |
| WASWASP actin nucleation promoting factor | Svært ofte (80–99 %) | I 1 tilstand |
| XIAPX-linked inhibitor of apoptosis | Svært ofte (80–99 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Svært ofte (80–99 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Svært ofte (80–99 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ADAadenosine deaminase | Ofte (30–79 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| AK2adenylate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Ofte (30–79 %) | I 1 tilstand |
| AQP2aquaporin 2 | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| AVParginine vasopressin | Ofte (30–79 %) | I 1 tilstand |
| AVPR2arginine vasopressin receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Ofte (30–79 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Ofte (30–79 %) | I 2 tilstander |
| CALRcalreticulin | Ofte (30–79 %) | I 3 tilstander |
| CCND1cyclin D1 | Ofte (30–79 %) | I 1 tilstand |
| CD247CD247 molecule | Ofte (30–79 %) | I 1 tilstand |
| CD27CD27 molecule | Ofte (30–79 %) | I 1 tilstand |
| CD3DCD3 delta subunit of T-cell receptor complex | Ofte (30–79 %) | I 1 tilstand |
| CD3ECD3 epsilon subunit of T-cell receptor complex | Ofte (30–79 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| CPT2carnitine palmitoyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| DCLRE1CDNA cross-link repair 1C | Ofte (30–79 %) | I 1 tilstand |
| ELANEelastase, neutrophil expressed | Ofte (30–79 %) | I 2 tilstander |
| F5coagulation factor V | Ofte (30–79 %) | I 1 tilstand |
| FAHfumarylacetoacetate hydrolase | Ofte (30–79 %) | I 1 tilstand |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Ofte (30–79 %) | I 1 tilstand |
| GATA2GATA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GFI1growth factor independent 1 transcriptional repressor | Ofte (30–79 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| HAVCR2hepatitis A virus cellular receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| IL1R1interleukin 1 receptor type 1 | Ofte (30–79 %) | I 1 tilstand |
| IL2RGinterleukin 2 receptor subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| IL36RNinterleukin 36 receptor antagonist | Ofte (30–79 %) | I 2 tilstander |
| IL7Rinterleukin 7 receptor | Ofte (30–79 %) | I 2 tilstander |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Ofte (30–79 %) | I 3 tilstander |
| KITKIT proto-oncogene, receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| LBRlamin B receptor | Ofte (30–79 %) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Ofte (30–79 %) | I 1 tilstand |
| LMO1LIM domain only 1 | Ofte (30–79 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MRPS7mitochondrial ribosomal protein S7 | Ofte (30–79 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Ofte (30–79 %) | I 1 tilstand |
| MTHFSmethenyltetrahydrofolate synthetase | Ofte (30–79 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ofte (30–79 %) | I 1 tilstand |
| NABP1nucleic acid binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Ofte (30–79 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Ofte (30–79 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| NUDCD3NudC domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| NUMA1nuclear mitotic apparatus protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Ofte (30–79 %) | I 1 tilstand |
| PMLPML nuclear body scaffold | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| PSMB10proteasome 20S subunit beta 10 | Ofte (30–79 %) | I 1 tilstand |
| RAG2recombination activating 2 | Ofte (30–79 %) | I 2 tilstander |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RARAretinoic acid receptor alpha | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 1 tilstand |
| RUNX1RUNX family transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Ofte (30–79 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SRP19signal recognition particle 19 | Ofte (30–79 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Ofte (30–79 %) | I 1 tilstand |
| STAT1signal transducer and activator of transcription 1 | Ofte (30–79 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 2 tilstander |
| STAT5Bsignal transducer and activator of transcription 5B | Ofte (30–79 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 1 tilstand |
| TCF4transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Ofte (30–79 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 2 tilstander |
| TICAM1TIR domain containing adaptor molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| TLR3toll like receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| TRAF3TNF receptor associated factor 3 | Ofte (30–79 %) | I 1 tilstand |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Ofte (30–79 %) | I 1 tilstand |
| UNC93B1unc-93B1 regulator of TLR signaling | Ofte (30–79 %) | I 1 tilstand |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Ofte (30–79 %) | I 1 tilstand |
| ZBTB16zinc finger and BTB domain containing 16 | Ofte (30–79 %) | I 1 tilstand |
| ABCC2ATP binding cassette subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTN4actinin alpha 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ANK1ankyrin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKFY1ankyrin repeat and FYVE domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Noen ganger (5–29 %) | I 1 tilstand |
| ANLNanillin, actin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| APOL1apolipoprotein L1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARHGAP24Rho GTPase activating protein 24 | Noen ganger (5–29 %) | I 1 tilstand |
| ARHGDIARho GDP dissociation inhibitor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Noen ganger (5–29 %) | I 1 tilstand |
| AVILadvillin | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 2 tilstander |
| CD2APCD2 associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| CFTRCF transmembrane conductance regulator | Noen ganger (5–29 %) | I 2 tilstander |
| COL4A3collagen type IV alpha 3 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Noen ganger (5–29 %) | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Noen ganger (5–29 %) | I 1 tilstand |
| DAAM2dishevelled associated activator of morphogenesis 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EMP2epithelial membrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Noen ganger (5–29 %) | I 1 tilstand |
| GAPVD1GTPase activating protein and VPS9 domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLAgalactosidase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| GPC3glypican 3 | Noen ganger (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Noen ganger (5–29 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Noen ganger (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Noen ganger (5–29 %) | I 2 tilstander |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| INF2inverted formin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IRAK4interleukin 1 receptor associated kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| KANK2KN motif and ankyrin repeat domains 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA5laminin subunit alpha 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MAGI2membrane associated guanylate kinase, WW and PDZ domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLMPL proto-oncogene, thrombopoietin receptor | Noen ganger (5–29 %) | I 2 tilstander |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 2 tilstander |
| MYD88MYD88 innate immune signal transduction adaptor | Noen ganger (5–29 %) | I 2 tilstander |
| MYO1Emyosin IE | Noen ganger (5–29 %) | I 1 tilstand |
| NPHS1NPHS1 adhesion molecule, nephrin | Noen ganger (5–29 %) | I 1 tilstand |
| NPHS2NPHS2 stomatin family member, podocin | Noen ganger (5–29 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP160nucleoporin 160 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP205nucleoporin 205 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP37nucleoporin 37 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP93nucleoporin 93 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Noen ganger (5–29 %) | I 1 tilstand |
| PLCE1phospholipase C epsilon 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| POU6F2POU class 6 homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Noen ganger (5–29 %) | I 2 tilstander |
| PTPN3protein tyrosine phosphatase non-receptor type 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPROprotein tyrosine phosphatase receptor type O | Noen ganger (5–29 %) | I 1 tilstand |
| RESTRE1 silencing transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ROS1ROS proto-oncogene 1, receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| SCNN1Asodium channel epithelial 1 subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| SCNN1Bsodium channel epithelial 1 subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Noen ganger (5–29 %) | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SPTBspectrin beta, erythrocytic | Noen ganger (5–29 %) | I 2 tilstander |
| SPTBN1spectrin beta, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D8BTBC1 domain family member 8B | Noen ganger (5–29 %) | I 1 tilstand |
| THtyrosine hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM28tripartite motif containing 28 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WT1WT1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZFYVE19zinc finger FYVE-type containing 19 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| CD28CD28 molecule | Sjelden (1–4%) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| EPB41erythrocyte membrane protein band 4.1 | Sjelden (1–4%) | I 1 tilstand |
| GYPCglycophorin C (Gerbich blood group) | Sjelden (1–4%) | I 1 tilstand |
| NAB2NGFI-A binding protein 2 | Sjelden (1–4%) | I 1 tilstand |
| RB1RB transcriptional corepressor 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC34A2solute carrier family 34 member 2 | Sjelden (1–4%) | I 1 tilstand |
| SLC5A1solute carrier family 5 member 1 | Sjelden (1–4%) | I 1 tilstand |
| STAT6signal transducer and activator of transcription 6 | Sjelden (1–4%) | I 1 tilstand |
| TNFRSF1BTNF receptor superfamily member 1B | Sjelden (1–4%) | I 1 tilstand |
| TP53tumor protein p53 | Sjelden (1–4%) | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Sjelden (1–4%) | I 1 tilstand |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Ikke registrert | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| BACH2BACH transcriptional regulator 2 | Ikke registrert | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ikke registrert | I 1 tilstand |
| CD244CD244 molecule | Ikke registrert | I 1 tilstand |
| CFHcomplement factor H | Ikke registrert | I 1 tilstand |
| CFHR1complement factor H related 1 | Ikke registrert | I 1 tilstand |
| CFHR3complement factor H related 3 | Ikke registrert | I 1 tilstand |
| CIITAclass II major histocompatibility complex transactivator | Ikke registrert | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registrert | I 1 tilstand |
| CTRCchymotrypsin C | Ikke registrert | I 1 tilstand |
| CYP21A2cytochrome P450 family 21 subfamily A member 2 | Ikke registrert | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registrert | I 1 tilstand |
| FBP1fructose-bisphosphatase 1 | Ikke registrert | I 1 tilstand |
| GAAalpha glucosidase | Ikke registrert | I 1 tilstand |
| HTR1A5-hydroxytryptamine receptor 1A | Ikke registrert | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registrert | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registrert | I 1 tilstand |
| KRT18keratin 18 | Ikke registrert | I 1 tilstand |
| NFKBIL1NFKB inhibitor like 1 | Ikke registrert | I 1 tilstand |
| NGLY1N-glycanase 1 | Ikke registrert | I 1 tilstand |
| PRSS1serine protease 1 | Ikke registrert | I 1 tilstand |
| PRSS2serine protease 2 | Ikke registrert | I 1 tilstand |
| SH2B3SH2B adaptor protein 3 | Ikke registrert | I 1 tilstand |
| SLC12A1solute carrier family 12 member 1 | Ikke registrert | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Ikke registrert | I 1 tilstand |
| SLC22A4solute carrier family 22 member 4 | Ikke registrert | I 1 tilstand |
| SPINK1serine peptidase inhibitor Kazal type 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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