Egenskap
Low number of red blood cells or hemoglobin
Klinisk navn: Anemia
A reduction in erythrocytes volume or hemoglobin concentration.
Sammendrag
- Også kalt
- Anaemia, Low number of red blood cells or haemoglobin
- Kroppssystem
- Abnormality of blood and blood-forming tissues
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test462 gener knyttet til Low number of red blood cells or hemoglobin
Endringer i disse genene forårsaker sjeldne tilstander der Low number of red blood cells or hemoglobin 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alltid | I 2 tilstander |
| ABCG8ATP binding cassette subfamily G member 8 | Alltid | I 1 tilstand |
| ACTN4actinin alpha 4 | Alltid | I 1 tilstand |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Alltid | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Alltid | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Alltid | I 2 tilstander |
| AMMECR1AMMECR nuclear protein 1 | Alltid | I 1 tilstand |
| ATP7BATPase copper transporting beta | Alltid | I 2 tilstander |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Alltid | I 1 tilstand |
| CDK4cyclin dependent kinase 4 | Alltid | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Alltid | I 4 tilstander |
| COL3A1collagen type III alpha 1 chain | Alltid | I 1 tilstand |
| CYB561cytochrome b561 | Alltid | I 1 tilstand |
| DCLRE1CDNA cross-link repair 1C | Alltid | I 2 tilstander |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Alltid | I 3 tilstander |
| DPP9dipeptidyl peptidase 9 | Alltid | I 1 tilstand |
| ERCC6L2ERCC excision repair 6 like 2 | Alltid | I 1 tilstand |
| EXOC3L2exocyst complex component 3 like 2 | Alltid | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Alltid | I 2 tilstander |
| FANCCFA complementation group C | Alltid | I 2 tilstander |
| FANCFFA complementation group F | Alltid | I 2 tilstander |
| FANCIFA complementation group I | Alltid | I 2 tilstander |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tilstand |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Alltid | I 1 tilstand |
| GATA2GATA binding protein 2 | Alltid | I 1 tilstand |
| GATBglutamyl-tRNA amidotransferase subunit B | Alltid | I 1 tilstand |
| GATCglutamyl-tRNA amidotransferase subunit C | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Alltid | I 1 tilstand |
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Alltid | I 1 tilstand |
| IFNGinterferon gamma | Alltid | I 2 tilstander |
| IL27RAinterleukin 27 receptor subunit alpha | Alltid | I 1 tilstand |
| IL37interleukin 37 | Alltid | I 1 tilstand |
| IRF8interferon regulatory factor 8 | Alltid | I 1 tilstand |
| ISCUiron-sulfur cluster assembly enzyme | Alltid | I 1 tilstand |
| KLF1KLF transcription factor 1 | Alltid | I 3 tilstander |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
Vis 422 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| LIPAlipase A, lysosomal acid type | Alltid | I 2 tilstander |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Alltid | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Alltid | I 2 tilstander |
| LYZlysozyme | Alltid | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Alltid | I 2 tilstander |
| MAN2B2mannosidase alpha class 2B member 2 | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alltid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 1 tilstand |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Alltid | I 1 tilstand |
| MVKmevalonate kinase | Alltid | I 1 tilstand |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Alltid | I 1 tilstand |
| NEK8NIMA related kinase 8 | Alltid | I 1 tilstand |
| NLRC4NLR family CARD domain containing 4 | Alltid | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Alltid | I 3 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 1 tilstand |
| PLCG1phospholipase C gamma 1 | Alltid | I 1 tilstand |
| PLD4phospholipase D family member 4 | Alltid | I 1 tilstand |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Alltid | I 2 tilstander |
| PRF1perforin 1 | Alltid | I 3 tilstander |
| PROS1protein S | Alltid | I 1 tilstand |
| PSAPprosaposin | Alltid | I 2 tilstander |
| PSKH1protein serine kinase H1 | Alltid | I 1 tilstand |
| PTCRApre T cell antigen receptor alpha | Alltid | I 1 tilstand |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Alltid | I 1 tilstand |
| RAG1recombination activating 1 | Alltid | I 2 tilstander |
| RAG2recombination activating 2 | Alltid | I 2 tilstander |
| RBM8ARNA binding motif protein 8A | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RC3H1ring finger and CCCH-type domains 1 | Alltid | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Alltid | I 1 tilstand |
| RPL17ribosomal protein L17 | Alltid | I 1 tilstand |
| RPL27ribosomal protein L27 | Alltid | I 1 tilstand |
| RPS10ribosomal protein S10 | Alltid | I 1 tilstand |
| RPS15Aribosomal protein S15a | Alltid | I 1 tilstand |
| RPS26ribosomal protein S26 | Alltid | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Alltid | I 3 tilstander |
| SEC61A1SEC61 translocon subunit alpha 1 | Alltid | I 2 tilstander |
| SERPINA6serpin family A member 6 | Alltid | I 1 tilstand |
| SLC11A2solute carrier family 11 member 2 | Alltid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 2 tilstander |
| SLC4A2solute carrier family 4 member 2 | Alltid | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Alltid | I 2 tilstander |
| SPINK5serine peptidase inhibitor Kazal type 5 | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SRP68signal recognition particle 68 | Alltid | I 1 tilstand |
| STAT2signal transducer and activator of transcription 2 | Alltid | I 1 tilstand |
| STEAP3STEAP3 metalloreductase | Alltid | I 2 tilstander |
| STIM1stromal interaction molecule 1 | Alltid | I 2 tilstander |
| STX11syntaxin 11 | Alltid | I 2 tilstander |
| STXBP2syntaxin binding protein 2 | Alltid | I 2 tilstander |
| TBXAS1thromboxane A synthase 1 | Alltid | I 2 tilstander |
| TCF3transcription factor 3 | Alltid | I 1 tilstand |
| TERCtelomerase RNA component | Alltid | I 4 tilstander |
| TERTtelomerase reverse transcriptase | Alltid | I 5 tilstander |
| THPOthrombopoietin | Alltid | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Alltid | I 2 tilstander |
| TP53tumor protein p53 | Alltid | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Alltid | I 2 tilstander |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Alltid | I 2 tilstander |
| VPS45vacuolar protein sorting 45 homolog | Alltid | I 1 tilstand |
| ZNF808zinc finger protein 808 | Alltid | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Svært ofte (80–99 %) | I 2 tilstander |
| AGXTalanine--glyoxylate aminotransferase | Svært ofte (80–99 %) | I 1 tilstand |
| AK2adenylate kinase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ALAS25'-aminolevulinate synthase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Svært ofte (80–99 %) | I 1 tilstand |
| BIRC3baculoviral IAP repeat containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Svært ofte (80–99 %) | I 3 tilstander |
| BRCA1BRCA1 DNA repair associated | Svært ofte (80–99 %) | I 2 tilstander |
| BRCA2BRCA2 DNA repair associated | Svært ofte (80–99 %) | I 2 tilstander |
| BRIP1BRCA1 interacting DNA helicase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CD55CD55 molecule (Cromer blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Svært ofte (80–99 %) | I 6 tilstander |
| CTC1CST telomere replication complex component 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DKC1dyskerin pseudouridine synthase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| EFL1elongation factor like GTPase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 2 tilstander |
| FANCAFA complementation group A | Svært ofte (80–99 %) | I 2 tilstander |
| FANCBFA complementation group B | Svært ofte (80–99 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Svært ofte (80–99 %) | I 2 tilstander |
| FANCEFA complementation group E | Svært ofte (80–99 %) | I 2 tilstander |
| FANCGFA complementation group G | Svært ofte (80–99 %) | I 2 tilstander |
| FANCLFA complementation group L | Svært ofte (80–99 %) | I 2 tilstander |
| FANCMFA complementation group M | Svært ofte (80–99 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Svært ofte (80–99 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GLAgalactosidase alpha | Svært ofte (80–99 %) | I 2 tilstander |
| HBA1hemoglobin subunit alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Svært ofte (80–99 %) | I 4 tilstander |
| HBDhemoglobin subunit delta | Svært ofte (80–99 %) | I 1 tilstand |
| HBG1hemoglobin subunit gamma 1 | Svært ofte (80–99 %) | I 2 tilstander |
| HBG2hemoglobin subunit gamma 2 | Svært ofte (80–99 %) | I 2 tilstander |
| IGHimmunoglobulin heavy locus | Svært ofte (80–99 %) | I 1 tilstand |
| KIF23kinesin family member 23 | Svært ofte (80–99 %) | I 1 tilstand |
| MALT1MALT1 paracaspase | Svært ofte (80–99 %) | I 1 tilstand |
| MMP1matrix metallopeptidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Svært ofte (80–99 %) | I 2 tilstander |
| NHP2NHP2 ribonucleoprotein | Svært ofte (80–99 %) | I 1 tilstand |
| NOP10NOP10 ribonucleoprotein | Svært ofte (80–99 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PALB2partner and localizer of BRCA2 | Svært ofte (80–99 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Svært ofte (80–99 %) | I 2 tilstander |
| PFKMphosphofructokinase, muscle | Svært ofte (80–99 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Svært ofte (80–99 %) | I 1 tilstand |
| PKLRpyruvate kinase L/R | Svært ofte (80–99 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Svært ofte (80–99 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RACGAP1Rac GTPase activating protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Svært ofte (80–99 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Svært ofte (80–99 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Svært ofte (80–99 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SAMD9sterile alpha motif domain containing 9 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC35C1solute carrier family 35 member C1 | Svært ofte (80–99 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Svært ofte (80–99 %) | I 4 tilstander |
| SNX10sorting nexin 10 | Svært ofte (80–99 %) | I 2 tilstander |
| TALDO1transaldolase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Svært ofte (80–99 %) | I 3 tilstander |
| TFtransferrin | Svært ofte (80–99 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Svært ofte (80–99 %) | I 4 tilstander |
| TYMSthymidylate synthetase | Svært ofte (80–99 %) | I 2 tilstander |
| UMPSuridine monophosphate synthetase | Svært ofte (80–99 %) | I 1 tilstand |
| UNC13Dunc-13 homolog D | Svært ofte (80–99 %) | I 2 tilstander |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Svært ofte (80–99 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Svært ofte (80–99 %) | I 1 tilstand |
| ACVRL1activin A receptor like type 1 | Ofte (30–79 %) | I 2 tilstander |
| ALKALK receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| AMNamnion associated transmembrane protein | Ofte (30–79 %) | I 1 tilstand |
| ANK1ankyrin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| C1GALT1C1C1GALT1 specific chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| C1QBcomplement C1q B chain | Ofte (30–79 %) | I 1 tilstand |
| CALRcalreticulin | Ofte (30–79 %) | I 1 tilstand |
| CCND1cyclin D1 | Ofte (30–79 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Ofte (30–79 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| COL17A1collagen type XVII alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| COPZ1coat protein complex I subunit zeta 1 | Ofte (30–79 %) | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Ofte (30–79 %) | I 1 tilstand |
| DBHdopamine beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Ofte (30–79 %) | I 1 tilstand |
| ENGendoglin | Ofte (30–79 %) | I 3 tilstander |
| EPB42erythrocyte membrane protein band 4.2 | Ofte (30–79 %) | I 1 tilstand |
| EPHB4EPH receptor B4 | Ofte (30–79 %) | I 1 tilstand |
| FAHfumarylacetoacetate hydrolase | Ofte (30–79 %) | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Ofte (30–79 %) | I 2 tilstander |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 1 tilstand |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Ofte (30–79 %) | I 1 tilstand |
| FOCADfocadhesin | Ofte (30–79 %) | I 1 tilstand |
| FOXP3forkhead box P3 | Ofte (30–79 %) | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Ofte (30–79 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 8 tilstander |
| GDF2growth differentiation factor 2 | Ofte (30–79 %) | I 1 tilstand |
| GNA14G protein subunit alpha 14 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Ofte (30–79 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Ofte (30–79 %) | I 3 tilstander |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 2 tilstander |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Ofte (30–79 %) | I 2 tilstander |
| HMOX1heme oxygenase 1 | Ofte (30–79 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| IL12Binterleukin 12B | Ofte (30–79 %) | I 1 tilstand |
| IRF1interferon regulatory factor 1 | Ofte (30–79 %) | I 1 tilstand |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ITGB4integrin subunit beta 4 | Ofte (30–79 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| KRT14keratin 14 | Ofte (30–79 %) | I 1 tilstand |
| KRT5keratin 5 | Ofte (30–79 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Ofte (30–79 %) | I 2 tilstander |
| LAMB3laminin subunit beta 3 | Ofte (30–79 %) | I 2 tilstander |
| LAMC2laminin subunit gamma 2 | Ofte (30–79 %) | I 2 tilstander |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Ofte (30–79 %) | I 1 tilstand |
| LMO1LIM domain only 1 | Ofte (30–79 %) | I 1 tilstand |
| MECOMMDS1 and EVI1 complex locus | Ofte (30–79 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Ofte (30–79 %) | I 2 tilstander |
| MLXMAX dimerization protein MLX | Ofte (30–79 %) | I 1 tilstand |
| MPLMPL proto-oncogene, thrombopoietin receptor | Ofte (30–79 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | 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 |
| NAXDNAD(P)HX dehydratase | Ofte (30–79 %) | I 1 tilstand |
| NCAPG2non-SMC condensin II complex subunit G2 | Ofte (30–79 %) | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Ofte (30–79 %) | I 2 tilstander |
| NUMA1nuclear mitotic apparatus protein 1 | Ofte (30–79 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PEPDpeptidase D | 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 |
| PRIM1DNA primase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ofte (30–79 %) | I 2 tilstander |
| RAP1BRAP1B, member of RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RARAretinoic acid receptor alpha | Ofte (30–79 %) | I 1 tilstand |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RECQLRecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 3 tilstander |
| RNF31ring finger protein 31 | Ofte (30–79 %) | I 1 tilstand |
| SASH3SAM and SH3 domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Ofte (30–79 %) | I 1 tilstand |
| SHPKsedoheptulokinase | Ofte (30–79 %) | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Ofte (30–79 %) | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 2 tilstander |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ofte (30–79 %) | I 2 tilstander |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Ofte (30–79 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 3 tilstander |
| SPTA1spectrin alpha, erythrocytic 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Ofte (30–79 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STAT5Bsignal transducer and activator of transcription 5B | Ofte (30–79 %) | I 1 tilstand |
| STING1stimulator of interferon response cGAMP interactor 1 | Ofte (30–79 %) | I 1 tilstand |
| SYKspleen associated tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 1 tilstand |
| TCN2transcobalamin 2 | Ofte (30–79 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 2 tilstander |
| TFRCtransferrin receptor | Ofte (30–79 %) | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Ofte (30–79 %) | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ofte (30–79 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Ofte (30–79 %) | I 1 tilstand |
| WASWASP actin nucleation promoting factor | Ofte (30–79 %) | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB16zinc finger and BTB domain containing 16 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Ofte (30–79 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAadenosine deaminase | Noen ganger (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 1 tilstand |
| BTKBruton tyrosine kinase | Noen ganger (5–29 %) | I 2 tilstander |
| BTNL2butyrophilin like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| CD247CD247 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDC40cell division cycle 40 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCDC2doublecortin domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ETV6ETS variant transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| EWSR1EWS RNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| F2coagulation factor II, thrombin | Noen ganger (5–29 %) | I 1 tilstand |
| F8coagulation factor VIII | Noen ganger (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FERMT1FERM domain containing kindlin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| FTCDformimidoyltransferase cyclodeaminase | Noen ganger (5–29 %) | I 1 tilstand |
| GPC3glypican 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Noen ganger (5–29 %) | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| IL2RGinterleukin 2 receptor subunit gamma | Noen ganger (5–29 %) | I 1 tilstand |
| IL7Rinterleukin 7 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Noen ganger (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Noen ganger (5–29 %) | I 2 tilstander |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| 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-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| 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 2 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NUDCD3NudC domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PBX1PBX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PCNTpericentrin | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRAplatelet derived growth factor receptor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Noen ganger (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| POU6F2POU class 6 homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PSMB10proteasome 20S subunit beta 10 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Noen ganger (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RESTRE1 silencing transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| RUNX1RUNX family transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Noen ganger (5–29 %) | I 2 tilstander |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Noen ganger (5–29 %) | I 2 tilstander |
| SDHCsuccinate dehydrogenase complex subunit C | Noen ganger (5–29 %) | I 2 tilstander |
| SLC25A13solute carrier family 25 member 13 | Noen ganger (5–29 %) | I 1 tilstand |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SP110SP110 nuclear body protein | Noen ganger (5–29 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| STK11serine/threonine kinase 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 2 tilstander |
| TRIM28tripartite motif containing 28 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TTRtransthyretin | Noen ganger (5–29 %) | I 1 tilstand |
| TYMPthymidine phosphorylase | Noen ganger (5–29 %) | I 1 tilstand |
| UNC45Aunc-45 myosin chaperone A | Noen ganger (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| WT1WT1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ACVR1activin A receptor type 1 | Sjelden (1–4%) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Sjelden (1–4%) | I 1 tilstand |
| HAVCR2hepatitis A virus cellular receptor 2 | Sjelden (1–4%) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Sjelden (1–4%) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sjelden (1–4%) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Sjelden (1–4%) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Ikke registrert | I 1 tilstand |
| ACAD8acyl-CoA dehydrogenase family member 8 | Ikke registrert | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| APTXaprataxin | Ikke registrert | I 1 tilstand |
| C3complement C3 | Ikke registrert | I 1 tilstand |
| CASRcalcium sensing receptor | Ikke registrert | I 1 tilstand |
| CD46CD46 molecule | Ikke registrert | I 1 tilstand |
| CDIN1CDAN1 interacting nuclease 1 | Ikke registrert | I 1 tilstand |
| CFBcomplement factor B | Ikke registrert | I 1 tilstand |
| CFIcomplement factor I | Ikke registrert | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ikke registrert | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registrert | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ikke registrert | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registrert | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Ikke registrert | I 1 tilstand |
| CPceruloplasmin | Ikke registrert | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registrert | I 1 tilstand |
| ELANEelastase, neutrophil expressed | Ikke registrert | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registrert | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registrert | I 1 tilstand |
| FERMT3FERM domain containing kindlin 3 | Ikke registrert | I 1 tilstand |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Ikke registrert | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ikke registrert | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registrert | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ikke registrert | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Ikke registrert | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ikke registrert | I 1 tilstand |
| ITGA2Bintegrin subunit alpha 2b | Ikke registrert | I 1 tilstand |
| ITKIL2 inducible T cell kinase | Ikke registrert | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registrert | I 1 tilstand |
| LARS1leucyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| MDM4MDM4 regulator of p53 | Ikke registrert | I 1 tilstand |
| MMAAmetabolism of cobalamin associated A | Ikke registrert | I 1 tilstand |
| MMABmetabolism of cobalamin associated B | Ikke registrert | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ikke registrert | I 1 tilstand |
| MUC1mucin 1, cell surface associated | Ikke registrert | I 1 tilstand |
| NPHP1nephrocystin 1 | Ikke registrert | I 2 tilstander |
| NPHP4nephrocystin 4 | Ikke registrert | I 2 tilstander |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registrert | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registrert | I 1 tilstand |
| PLECplectin | Ikke registrert | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Ikke registrert | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registrert | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Ikke registrert | I 1 tilstand |
| RENrenin | Ikke registrert | I 1 tilstand |
| RPS27ribosomal protein S27 | Ikke registrert | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Ikke registrert | I 1 tilstand |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Ikke registrert | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ikke registrert | I 1 tilstand |
| SLC25A38solute carrier family 25 member 38 | Ikke registrert | I 1 tilstand |
| SLC40A1solute carrier family 40 member 1 | Ikke registrert | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registrert | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registrert | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Ikke registrert | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registrert | I 1 tilstand |
| TFR2transferrin receptor 2 | Ikke registrert | I 1 tilstand |
| THBDthrombomodulin | Ikke registrert | I 1 tilstand |
| THRAthyroid hormone receptor alpha | Ikke registrert | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Ikke registrert | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ikke registrert | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | 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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