Træk
Low number of red blood cells or hemoglobin
Klinisk navn: Anemia
A reduction in erythrocytes volume or hemoglobin concentration.
Resumé
- Også kaldet
- Anaemia, Low number of red blood cells or haemoglobin
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test462 gener knyttet til Low number of red blood cells or hemoglobin
Ændringer i disse gener forårsager sjældne tilstande, hvor Low number of red blood cells or hemoglobin ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 2 tilstande |
| ABCG8ATP binding cassette subfamily G member 8 | Altid | I 1 tilstand |
| ACTN4actinin alpha 4 | Altid | I 1 tilstand |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Altid | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Altid | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Altid | I 2 tilstande |
| AMMECR1AMMECR nuclear protein 1 | Altid | I 1 tilstand |
| ATP7BATPase copper transporting beta | Altid | I 2 tilstande |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Altid | I 1 tilstand |
| CDK4cyclin dependent kinase 4 | Altid | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Altid | I 4 tilstande |
| COL3A1collagen type III alpha 1 chain | Altid | I 1 tilstand |
| CYB561cytochrome b561 | Altid | I 1 tilstand |
| DCLRE1CDNA cross-link repair 1C | Altid | I 2 tilstande |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Altid | I 3 tilstande |
| DPP9dipeptidyl peptidase 9 | Altid | I 1 tilstand |
| ERCC6L2ERCC excision repair 6 like 2 | Altid | I 1 tilstand |
| EXOC3L2exocyst complex component 3 like 2 | Altid | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Altid | I 2 tilstande |
| FANCCFA complementation group C | Altid | I 2 tilstande |
| FANCFFA complementation group F | Altid | I 2 tilstande |
| FANCIFA complementation group I | Altid | I 2 tilstande |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Altid | I 1 tilstand |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Altid | I 1 tilstand |
| GATA2GATA binding protein 2 | Altid | I 1 tilstand |
| GATBglutamyl-tRNA amidotransferase subunit B | Altid | I 1 tilstand |
| GATCglutamyl-tRNA amidotransferase subunit C | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Altid | I 1 tilstand |
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Altid | I 1 tilstand |
| IFNGinterferon gamma | Altid | I 2 tilstande |
| IL27RAinterleukin 27 receptor subunit alpha | Altid | I 1 tilstand |
| IL37interleukin 37 | Altid | I 1 tilstand |
| IRF8interferon regulatory factor 8 | Altid | I 1 tilstand |
| ISCUiron-sulfur cluster assembly enzyme | Altid | I 1 tilstand |
| KLF1KLF transcription factor 1 | Altid | I 3 tilstande |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
Vis 422 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| LIPAlipase A, lysosomal acid type | Altid | I 2 tilstande |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Altid | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Altid | I 2 tilstande |
| LYZlysozyme | Altid | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Altid | I 2 tilstande |
| MAN2B2mannosidase alpha class 2B member 2 | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 1 tilstand |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Altid | I 1 tilstand |
| MVKmevalonate kinase | Altid | I 1 tilstand |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Altid | I 1 tilstand |
| NEK8NIMA related kinase 8 | Altid | I 1 tilstand |
| NLRC4NLR family CARD domain containing 4 | Altid | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Altid | I 3 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 1 tilstand |
| PLCG1phospholipase C gamma 1 | Altid | I 1 tilstand |
| PLD4phospholipase D family member 4 | Altid | I 1 tilstand |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Altid | I 2 tilstande |
| PRF1perforin 1 | Altid | I 3 tilstande |
| PROS1protein S | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 2 tilstande |
| PSKH1protein serine kinase H1 | Altid | I 1 tilstand |
| PTCRApre T cell antigen receptor alpha | Altid | I 1 tilstand |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Altid | I 1 tilstand |
| RAG1recombination activating 1 | Altid | I 2 tilstande |
| RAG2recombination activating 2 | Altid | I 2 tilstande |
| RBM8ARNA binding motif protein 8A | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| RC3H1ring finger and CCCH-type domains 1 | Altid | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Altid | I 1 tilstand |
| RPL17ribosomal protein L17 | Altid | I 1 tilstand |
| RPL27ribosomal protein L27 | Altid | I 1 tilstand |
| RPS10ribosomal protein S10 | Altid | I 1 tilstand |
| RPS15Aribosomal protein S15a | Altid | I 1 tilstand |
| RPS26ribosomal protein S26 | Altid | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Altid | I 3 tilstande |
| SEC61A1SEC61 translocon subunit alpha 1 | Altid | I 2 tilstande |
| SERPINA6serpin family A member 6 | Altid | I 1 tilstand |
| SLC11A2solute carrier family 11 member 2 | Altid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Altid | I 2 tilstande |
| SLC4A2solute carrier family 4 member 2 | Altid | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Altid | I 2 tilstande |
| SPINK5serine peptidase inhibitor Kazal type 5 | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SRP68signal recognition particle 68 | Altid | I 1 tilstand |
| STAT2signal transducer and activator of transcription 2 | Altid | I 1 tilstand |
| STEAP3STEAP3 metalloreductase | Altid | I 2 tilstande |
| STIM1stromal interaction molecule 1 | Altid | I 2 tilstande |
| STX11syntaxin 11 | Altid | I 2 tilstande |
| STXBP2syntaxin binding protein 2 | Altid | I 2 tilstande |
| TBXAS1thromboxane A synthase 1 | Altid | I 2 tilstande |
| TCF3transcription factor 3 | Altid | I 1 tilstand |
| TERCtelomerase RNA component | Altid | I 4 tilstande |
| TERTtelomerase reverse transcriptase | Altid | I 5 tilstande |
| THPOthrombopoietin | Altid | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Altid | I 2 tilstande |
| TP53tumor protein p53 | Altid | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Altid | I 2 tilstande |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Altid | I 2 tilstande |
| VPS45vacuolar protein sorting 45 homolog | Altid | I 1 tilstand |
| ZNF808zinc finger protein 808 | Altid | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Meget ofte (80–99 %) | I 2 tilstande |
| AGXTalanine--glyoxylate aminotransferase | Meget ofte (80–99 %) | I 1 tilstand |
| AK2adenylate kinase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ALAS25'-aminolevulinate synthase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Meget ofte (80–99 %) | I 1 tilstand |
| BIRC3baculoviral IAP repeat containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Meget ofte (80–99 %) | I 3 tilstande |
| BRCA1BRCA1 DNA repair associated | Meget ofte (80–99 %) | I 2 tilstande |
| BRCA2BRCA2 DNA repair associated | Meget ofte (80–99 %) | I 2 tilstande |
| BRIP1BRCA1 interacting DNA helicase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CD55CD55 molecule (Cromer blood group) | Meget ofte (80–99 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Meget ofte (80–99 %) | I 6 tilstande |
| CTC1CST telomere replication complex component 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DKC1dyskerin pseudouridine synthase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| EFL1elongation factor like GTPase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 2 tilstande |
| FANCAFA complementation group A | Meget ofte (80–99 %) | I 2 tilstande |
| FANCBFA complementation group B | Meget ofte (80–99 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Meget ofte (80–99 %) | I 2 tilstande |
| FANCEFA complementation group E | Meget ofte (80–99 %) | I 2 tilstande |
| FANCGFA complementation group G | Meget ofte (80–99 %) | I 2 tilstande |
| FANCLFA complementation group L | Meget ofte (80–99 %) | I 2 tilstande |
| FANCMFA complementation group M | Meget ofte (80–99 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Meget ofte (80–99 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GLAgalactosidase alpha | Meget ofte (80–99 %) | I 2 tilstande |
| HBA1hemoglobin subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Meget ofte (80–99 %) | I 4 tilstande |
| HBDhemoglobin subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| HBG1hemoglobin subunit gamma 1 | Meget ofte (80–99 %) | I 2 tilstande |
| HBG2hemoglobin subunit gamma 2 | Meget ofte (80–99 %) | I 2 tilstande |
| IGHimmunoglobulin heavy locus | Meget ofte (80–99 %) | I 1 tilstand |
| KIF23kinesin family member 23 | Meget ofte (80–99 %) | I 1 tilstand |
| MALT1MALT1 paracaspase | Meget ofte (80–99 %) | I 1 tilstand |
| MMP1matrix metallopeptidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NHP2NHP2 ribonucleoprotein | Meget ofte (80–99 %) | I 1 tilstand |
| NOP10NOP10 ribonucleoprotein | Meget ofte (80–99 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PALB2partner and localizer of BRCA2 | Meget ofte (80–99 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Meget ofte (80–99 %) | I 2 tilstande |
| PFKMphosphofructokinase, muscle | Meget ofte (80–99 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Meget ofte (80–99 %) | I 1 tilstand |
| PKLRpyruvate kinase L/R | Meget ofte (80–99 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Meget ofte (80–99 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RACGAP1Rac GTPase activating protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Meget ofte (80–99 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Meget ofte (80–99 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Meget ofte (80–99 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SAMD9sterile alpha motif domain containing 9 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC35C1solute carrier family 35 member C1 | Meget ofte (80–99 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Meget ofte (80–99 %) | I 4 tilstande |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 2 tilstande |
| TALDO1transaldolase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 3 tilstande |
| TFtransferrin | Meget ofte (80–99 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Meget ofte (80–99 %) | I 4 tilstande |
| TYMSthymidylate synthetase | Meget ofte (80–99 %) | I 2 tilstande |
| UMPSuridine monophosphate synthetase | Meget ofte (80–99 %) | I 1 tilstand |
| UNC13Dunc-13 homolog D | Meget ofte (80–99 %) | I 2 tilstande |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Meget ofte (80–99 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 1 tilstand |
| ACVRL1activin A receptor like type 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 2 tilstande |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| LAMB3laminin subunit beta 3 | Ofte (30–79 %) | I 2 tilstande |
| LAMC2laminin subunit gamma 2 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ofte (30–79 %) | I 2 tilstande |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Ofte (30–79 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| 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 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAadenosine deaminase | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 1 tilstand |
| BTKBruton tyrosine kinase | Nogle gange (5–29 %) | I 2 tilstande |
| BTNL2butyrophilin like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| CD247CD247 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDC40cell division cycle 40 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCDC2doublecortin domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ETV6ETS variant transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EWSR1EWS RNA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| F2coagulation factor II, thrombin | Nogle gange (5–29 %) | I 1 tilstand |
| F8coagulation factor VIII | Nogle gange (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FERMT1FERM domain containing kindlin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| FTCDformimidoyltransferase cyclodeaminase | Nogle gange (5–29 %) | I 1 tilstand |
| GPC3glypican 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Nogle gange (5–29 %) | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| IL2RGinterleukin 2 receptor subunit gamma | Nogle gange (5–29 %) | I 1 tilstand |
| IL7Rinterleukin 7 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Nogle gange (5–29 %) | I 2 tilstande |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NUDCD3NudC domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PBX1PBX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PCNTpericentrin | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRAplatelet derived growth factor receptor alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Nogle gange (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| POU6F2POU class 6 homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PSMB10proteasome 20S subunit beta 10 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RESTRE1 silencing transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| RUNX1RUNX family transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nogle gange (5–29 %) | I 2 tilstande |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Nogle gange (5–29 %) | I 2 tilstande |
| SLC25A13solute carrier family 25 member 13 | Nogle gange (5–29 %) | I 1 tilstand |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SP110SP110 nuclear body protein | Nogle gange (5–29 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| STK11serine/threonine kinase 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 2 tilstande |
| TRIM28tripartite motif containing 28 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| TTRtransthyretin | Nogle gange (5–29 %) | I 1 tilstand |
| TYMPthymidine phosphorylase | Nogle gange (5–29 %) | I 1 tilstand |
| UNC45Aunc-45 myosin chaperone A | Nogle gange (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| WT1WT1 transcription factor | Nogle gange (5–29 %) | I 2 tilstande |
| ACVR1activin A receptor type 1 | Sjældent (1–4%) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Sjældent (1–4%) | I 1 tilstand |
| HAVCR2hepatitis A virus cellular receptor 2 | Sjældent (1–4%) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Sjældent (1–4%) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sjældent (1–4%) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Sjældent (1–4%) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Ikke registreret | I 1 tilstand |
| ACAD8acyl-CoA dehydrogenase family member 8 | Ikke registreret | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| C3complement C3 | Ikke registreret | I 1 tilstand |
| CASRcalcium sensing receptor | Ikke registreret | I 1 tilstand |
| CD46CD46 molecule | Ikke registreret | I 1 tilstand |
| CDIN1CDAN1 interacting nuclease 1 | Ikke registreret | I 1 tilstand |
| CFBcomplement factor B | Ikke registreret | I 1 tilstand |
| CFIcomplement factor I | Ikke registreret | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ikke registreret | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registreret | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Ikke registreret | I 1 tilstand |
| CPceruloplasmin | Ikke registreret | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registreret | I 1 tilstand |
| ELANEelastase, neutrophil expressed | Ikke registreret | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registreret | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registreret | I 1 tilstand |
| FERMT3FERM domain containing kindlin 3 | Ikke registreret | I 1 tilstand |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Ikke registreret | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ikke registreret | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registreret | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ikke registreret | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Ikke registreret | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ikke registreret | I 1 tilstand |
| ITGA2Bintegrin subunit alpha 2b | Ikke registreret | I 1 tilstand |
| ITKIL2 inducible T cell kinase | Ikke registreret | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registreret | I 1 tilstand |
| LARS1leucyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| MDM4MDM4 regulator of p53 | Ikke registreret | I 1 tilstand |
| MMAAmetabolism of cobalamin associated A | Ikke registreret | I 1 tilstand |
| MMABmetabolism of cobalamin associated B | Ikke registreret | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ikke registreret | I 1 tilstand |
| MUC1mucin 1, cell surface associated | Ikke registreret | I 1 tilstand |
| NPHP1nephrocystin 1 | Ikke registreret | I 2 tilstande |
| NPHP4nephrocystin 4 | Ikke registreret | I 2 tilstande |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registreret | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registreret | I 1 tilstand |
| PLECplectin | Ikke registreret | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Ikke registreret | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registreret | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Ikke registreret | I 1 tilstand |
| RENrenin | Ikke registreret | I 1 tilstand |
| RPS27ribosomal protein S27 | Ikke registreret | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Ikke registreret | I 1 tilstand |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Ikke registreret | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ikke registreret | I 1 tilstand |
| SLC25A38solute carrier family 25 member 38 | Ikke registreret | I 1 tilstand |
| SLC40A1solute carrier family 40 member 1 | Ikke registreret | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registreret | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registreret | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Ikke registreret | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registreret | I 1 tilstand |
| TFR2transferrin receptor 2 | Ikke registreret | I 1 tilstand |
| THBDthrombomodulin | Ikke registreret | I 1 tilstand |
| THRAthyroid hormone receptor alpha | Ikke registreret | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Ikke registreret | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ikke registreret | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger