Piirre
Low number of red blood cells or hemoglobin
Kliininen nimi: Anemia
A reduction in erythrocytes volume or hemoglobin concentration.
Yhteenveto
- Tunnetaan myös nimellä
- Anaemia, Low number of red blood cells or haemoglobin
- Elimistön järjestelmä
- Abnormality of blood and blood-forming tissues
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Low number of red blood cells or hemoglobin, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test462 geeniä, jotka liittyvät piirteeseen Low number of red blood cells or hemoglobin
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Low number of red blood cells or hemoglobin esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Aina | 2 sairaudessa |
| ABCG8ATP binding cassette subfamily G member 8 | Aina | 1 sairaudessa |
| ACTN4actinin alpha 4 | Aina | 1 sairaudessa |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Aina | 1 sairaudessa |
| ALDOAaldolase, fructose-bisphosphate A | Aina | 1 sairaudessa |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Aina | 2 sairaudessa |
| AMMECR1AMMECR nuclear protein 1 | Aina | 1 sairaudessa |
| ATP7BATPase copper transporting beta | Aina | 2 sairaudessa |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Aina | 1 sairaudessa |
| CDK4cyclin dependent kinase 4 | Aina | 1 sairaudessa |
| CLCN7Cl-/H+ antiporter 7 | Aina | 4 sairaudessa |
| COL3A1collagen type III alpha 1 chain | Aina | 1 sairaudessa |
| CYB561cytochrome b561 | Aina | 1 sairaudessa |
| DCLRE1CDNA cross-link repair 1C | Aina | 2 sairaudessa |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Aina | 3 sairaudessa |
| DPP9dipeptidyl peptidase 9 | Aina | 1 sairaudessa |
| ERCC6L2ERCC excision repair 6 like 2 | Aina | 1 sairaudessa |
| EXOC3L2exocyst complex component 3 like 2 | Aina | 1 sairaudessa |
| FAAP100FA core complex associated protein 100 | Aina | 2 sairaudessa |
| FANCCFA complementation group C | Aina | 2 sairaudessa |
| FANCFFA complementation group F | Aina | 2 sairaudessa |
| FANCIFA complementation group I | Aina | 2 sairaudessa |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Aina | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Aina | 1 sairaudessa |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Aina | 1 sairaudessa |
| GATA2GATA binding protein 2 | Aina | 1 sairaudessa |
| GATBglutamyl-tRNA amidotransferase subunit B | Aina | 1 sairaudessa |
| GATCglutamyl-tRNA amidotransferase subunit C | Aina | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Aina | 1 sairaudessa |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Aina | 1 sairaudessa |
| HEATR3HEAT repeat containing 3 | Aina | 1 sairaudessa |
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Aina | 1 sairaudessa |
| IFNGinterferon gamma | Aina | 2 sairaudessa |
| IL27RAinterleukin 27 receptor subunit alpha | Aina | 1 sairaudessa |
| IL37interleukin 37 | Aina | 1 sairaudessa |
| IRF8interferon regulatory factor 8 | Aina | 1 sairaudessa |
| ISCUiron-sulfur cluster assembly enzyme | Aina | 1 sairaudessa |
| KLF1KLF transcription factor 1 | Aina | 3 sairaudessa |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Aina | 1 sairaudessa |
Näytä 422 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| LIPAlipase A, lysosomal acid type | Aina | 2 sairaudessa |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Aina | 1 sairaudessa |
| LYRM7LYR motif containing 7 | Aina | 1 sairaudessa |
| LYSTlysosomal trafficking regulator | Aina | 2 sairaudessa |
| LYZlysozyme | Aina | 1 sairaudessa |
| MAD2L2mitotic arrest deficient 2 like 2 | Aina | 2 sairaudessa |
| MAN2B2mannosidase alpha class 2B member 2 | Aina | 1 sairaudessa |
| MARS1methionyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Aina | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Aina | 1 sairaudessa |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Aina | 1 sairaudessa |
| MVKmevalonate kinase | Aina | 1 sairaudessa |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Aina | 1 sairaudessa |
| NEK8NIMA related kinase 8 | Aina | 1 sairaudessa |
| NLRC4NLR family CARD domain containing 4 | Aina | 1 sairaudessa |
| NLRP3NLR family pyrin domain containing 3 | Aina | 3 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Aina | 1 sairaudessa |
| PLCG1phospholipase C gamma 1 | Aina | 1 sairaudessa |
| PLD4phospholipase D family member 4 | Aina | 1 sairaudessa |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Aina | 2 sairaudessa |
| PRF1perforin 1 | Aina | 3 sairaudessa |
| PROS1protein S | Aina | 1 sairaudessa |
| PSAPprosaposin | Aina | 2 sairaudessa |
| PSKH1protein serine kinase H1 | Aina | 1 sairaudessa |
| PTCRApre T cell antigen receptor alpha | Aina | 1 sairaudessa |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Aina | 1 sairaudessa |
| RAG1recombination activating 1 | Aina | 2 sairaudessa |
| RAG2recombination activating 2 | Aina | 2 sairaudessa |
| RBM8ARNA binding motif protein 8A | Aina | 1 sairaudessa |
| RBSNrabenosyn, RAB effector | Aina | 1 sairaudessa |
| RC3H1ring finger and CCCH-type domains 1 | Aina | 1 sairaudessa |
| RPGRIP1LRPGRIP1 like | Aina | 1 sairaudessa |
| RPL17ribosomal protein L17 | Aina | 1 sairaudessa |
| RPL27ribosomal protein L27 | Aina | 1 sairaudessa |
| RPS10ribosomal protein S10 | Aina | 1 sairaudessa |
| RPS15Aribosomal protein S15a | Aina | 1 sairaudessa |
| RPS26ribosomal protein S26 | Aina | 1 sairaudessa |
| SBDSSBDS ribosome maturation factor | Aina | 3 sairaudessa |
| SEC61A1SEC61 translocon subunit alpha 1 | Aina | 2 sairaudessa |
| SERPINA6serpin family A member 6 | Aina | 1 sairaudessa |
| SLC11A2solute carrier family 11 member 2 | Aina | 1 sairaudessa |
| SLC37A4solute carrier family 37 member 4 | Aina | 2 sairaudessa |
| SLC4A2solute carrier family 4 member 2 | Aina | 1 sairaudessa |
| SLX4SLX4 structure-specific endonuclease subunit | Aina | 2 sairaudessa |
| SPINK5serine peptidase inhibitor Kazal type 5 | Aina | 1 sairaudessa |
| SPOUT1SPOUT domain containing methyltransferase 1 | Aina | 1 sairaudessa |
| SRP68signal recognition particle 68 | Aina | 1 sairaudessa |
| STAT2signal transducer and activator of transcription 2 | Aina | 1 sairaudessa |
| STEAP3STEAP3 metalloreductase | Aina | 2 sairaudessa |
| STIM1stromal interaction molecule 1 | Aina | 2 sairaudessa |
| STX11syntaxin 11 | Aina | 2 sairaudessa |
| STXBP2syntaxin binding protein 2 | Aina | 2 sairaudessa |
| TBXAS1thromboxane A synthase 1 | Aina | 2 sairaudessa |
| TCF3transcription factor 3 | Aina | 1 sairaudessa |
| TERCtelomerase RNA component | Aina | 4 sairaudessa |
| TERTtelomerase reverse transcriptase | Aina | 5 sairaudessa |
| THPOthrombopoietin | Aina | 1 sairaudessa |
| TNFSF11TNF superfamily member 11 | Aina | 2 sairaudessa |
| TP53tumor protein p53 | Aina | 1 sairaudessa |
| UBE2Tubiquitin conjugating enzyme E2 T | Aina | 2 sairaudessa |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Aina | 2 sairaudessa |
| VPS45vacuolar protein sorting 45 homolog | Aina | 1 sairaudessa |
| ZNF808zinc finger protein 808 | Aina | 1 sairaudessa |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Hyvin usein (80–99%) | 2 sairaudessa |
| AGXTalanine--glyoxylate aminotransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| AK2adenylate kinase 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ALAS25'-aminolevulinate synthase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| BCL10BCL10 immune signaling adaptor | Hyvin usein (80–99%) | 1 sairaudessa |
| BIRC3baculoviral IAP repeat containing 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| BMPR1Abone morphogenetic protein receptor type 1A | Hyvin usein (80–99%) | 3 sairaudessa |
| BRCA1BRCA1 DNA repair associated | Hyvin usein (80–99%) | 2 sairaudessa |
| BRCA2BRCA2 DNA repair associated | Hyvin usein (80–99%) | 2 sairaudessa |
| BRIP1BRCA1 interacting DNA helicase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CD55CD55 molecule (Cromer blood group) | Hyvin usein (80–99%) | 1 sairaudessa |
| COL7A1collagen type VII alpha 1 chain | Hyvin usein (80–99%) | 6 sairaudessa |
| CTC1CST telomere replication complex component 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| DKC1dyskerin pseudouridine synthase 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| EFL1elongation factor like GTPase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Hyvin usein (80–99%) | 2 sairaudessa |
| FANCAFA complementation group A | Hyvin usein (80–99%) | 2 sairaudessa |
| FANCBFA complementation group B | Hyvin usein (80–99%) | 1 sairaudessa |
| FANCD2FA complementation group D2 | Hyvin usein (80–99%) | 2 sairaudessa |
| FANCEFA complementation group E | Hyvin usein (80–99%) | 2 sairaudessa |
| FANCGFA complementation group G | Hyvin usein (80–99%) | 2 sairaudessa |
| FANCLFA complementation group L | Hyvin usein (80–99%) | 2 sairaudessa |
| FANCMFA complementation group M | Hyvin usein (80–99%) | 1 sairaudessa |
| FOXP1forkhead box P1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GATA1GATA binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GLAgalactosidase alpha | Hyvin usein (80–99%) | 2 sairaudessa |
| HBA1hemoglobin subunit alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| HBA2hemoglobin subunit alpha 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| HBBhemoglobin subunit beta | Hyvin usein (80–99%) | 4 sairaudessa |
| HBDhemoglobin subunit delta | Hyvin usein (80–99%) | 1 sairaudessa |
| HBG1hemoglobin subunit gamma 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| HBG2hemoglobin subunit gamma 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| IGHimmunoglobulin heavy locus | Hyvin usein (80–99%) | 1 sairaudessa |
| KIF23kinesin family member 23 | Hyvin usein (80–99%) | 1 sairaudessa |
| MALT1MALT1 paracaspase | Hyvin usein (80–99%) | 1 sairaudessa |
| MMP1matrix metallopeptidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MYSM1Myb like, SWIRM and MPN domains 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| NHP2NHP2 ribonucleoprotein | Hyvin usein (80–99%) | 1 sairaudessa |
| NOP10NOP10 ribonucleoprotein | Hyvin usein (80–99%) | 1 sairaudessa |
| NPM1nucleophosmin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PALB2partner and localizer of BRCA2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PARNpoly(A)-specific ribonuclease | Hyvin usein (80–99%) | 2 sairaudessa |
| PFKMphosphofructokinase, muscle | Hyvin usein (80–99%) | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Hyvin usein (80–99%) | 1 sairaudessa |
| PKLRpyruvate kinase L/R | Hyvin usein (80–99%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Hyvin usein (80–99%) | 1 sairaudessa |
| PUS1pseudouridine synthase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RACGAP1Rac GTPase activating protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RAD51RAD51 recombinase | Hyvin usein (80–99%) | 1 sairaudessa |
| RAD51CRAD51 paralog C | Hyvin usein (80–99%) | 1 sairaudessa |
| RFWD3ring finger and WD repeat domain 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| RTEL1regulator of telomere elongation helicase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SAMD9sterile alpha motif domain containing 9 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC35C1solute carrier family 35 member C1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SMAD4SMAD family member 4 | Hyvin usein (80–99%) | 4 sairaudessa |
| SNX10sorting nexin 10 | Hyvin usein (80–99%) | 2 sairaudessa |
| TALDO1transaldolase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Hyvin usein (80–99%) | 3 sairaudessa |
| TFtransferrin | Hyvin usein (80–99%) | 1 sairaudessa |
| TINF2TERF1 interacting nuclear factor 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| TYMSthymidylate synthetase | Hyvin usein (80–99%) | 2 sairaudessa |
| UMPSuridine monophosphate synthetase | Hyvin usein (80–99%) | 1 sairaudessa |
| UNC13Dunc-13 homolog D | Hyvin usein (80–99%) | 2 sairaudessa |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| WRAP53WD repeat containing antisense to TP53 | Hyvin usein (80–99%) | 1 sairaudessa |
| XRCC2X-ray repair cross complementing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| YARS2tyrosyl-tRNA synthetase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZBTB20zinc finger and BTB domain containing 20 | Hyvin usein (80–99%) | 1 sairaudessa |
| ACVRL1activin A receptor like type 1 | Usein (30–79%) | 2 sairaudessa |
| ALKALK receptor tyrosine kinase | Usein (30–79%) | 1 sairaudessa |
| AMNamnion associated transmembrane protein | Usein (30–79%) | 1 sairaudessa |
| ANK1ankyrin 1 | Usein (30–79%) | 1 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Usein (30–79%) | 1 sairaudessa |
| BCORBCL6 corepressor | Usein (30–79%) | 1 sairaudessa |
| C1GALT1C1C1GALT1 specific chaperone 1 | Usein (30–79%) | 1 sairaudessa |
| C1QBcomplement C1q B chain | Usein (30–79%) | 1 sairaudessa |
| CALRcalreticulin | Usein (30–79%) | 1 sairaudessa |
| CCND1cyclin D1 | Usein (30–79%) | 1 sairaudessa |
| CDCA7cell division cycle associated 7 | Usein (30–79%) | 1 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Usein (30–79%) | 1 sairaudessa |
| CLPBClpB family mitochondrial disaggregase | Usein (30–79%) | 1 sairaudessa |
| COA8cytochrome c oxidase assembly factor 8 | Usein (30–79%) | 1 sairaudessa |
| COL17A1collagen type XVII alpha 1 chain | Usein (30–79%) | 2 sairaudessa |
| COPZ1coat protein complex I subunit zeta 1 | Usein (30–79%) | 1 sairaudessa |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Usein (30–79%) | 1 sairaudessa |
| DBHdopamine beta-hydroxylase | Usein (30–79%) | 1 sairaudessa |
| DNMT3BDNA methyltransferase 3 beta | Usein (30–79%) | 1 sairaudessa |
| ENGendoglin | Usein (30–79%) | 3 sairaudessa |
| EPB42erythrocyte membrane protein band 4.2 | Usein (30–79%) | 1 sairaudessa |
| EPHB4EPH receptor B4 | Usein (30–79%) | 1 sairaudessa |
| FAHfumarylacetoacetate hydrolase | Usein (30–79%) | 1 sairaudessa |
| FAM111AFAM111 trypsin like peptidase A | Usein (30–79%) | 2 sairaudessa |
| FDXRferredoxin reductase | Usein (30–79%) | 1 sairaudessa |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Usein (30–79%) | 1 sairaudessa |
| FOCADfocadhesin | Usein (30–79%) | 1 sairaudessa |
| FOXP3forkhead box P3 | Usein (30–79%) | 1 sairaudessa |
| GALEUDP-galactose-4-epimerase | Usein (30–79%) | 1 sairaudessa |
| GBA1glucosylceramidase beta 1 | Usein (30–79%) | 8 sairaudessa |
| GDF2growth differentiation factor 2 | Usein (30–79%) | 1 sairaudessa |
| GNA14G protein subunit alpha 14 | Usein (30–79%) | 1 sairaudessa |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Usein (30–79%) | 1 sairaudessa |
| HELLShelicase, lymphoid specific | Usein (30–79%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Usein (30–79%) | 3 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Usein (30–79%) | 2 sairaudessa |
| HMBShydroxymethylbilane synthase | Usein (30–79%) | 1 sairaudessa |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Usein (30–79%) | 2 sairaudessa |
| HMOX1heme oxygenase 1 | Usein (30–79%) | 1 sairaudessa |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| IL12Binterleukin 12B | Usein (30–79%) | 1 sairaudessa |
| IRF1interferon regulatory factor 1 | Usein (30–79%) | 1 sairaudessa |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| ITGB4integrin subunit beta 4 | Usein (30–79%) | 1 sairaudessa |
| JAK2Janus kinase 2 | Usein (30–79%) | 1 sairaudessa |
| KARS1lysyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| KRT14keratin 14 | Usein (30–79%) | 1 sairaudessa |
| KRT5keratin 5 | Usein (30–79%) | 1 sairaudessa |
| LAMA3laminin subunit alpha 3 | Usein (30–79%) | 2 sairaudessa |
| LAMB3laminin subunit beta 3 | Usein (30–79%) | 2 sairaudessa |
| LAMC2laminin subunit gamma 2 | Usein (30–79%) | 2 sairaudessa |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Usein (30–79%) | 1 sairaudessa |
| LMO1LIM domain only 1 | Usein (30–79%) | 1 sairaudessa |
| MECOMMDS1 and EVI1 complex locus | Usein (30–79%) | 1 sairaudessa |
| MEFVMEFV innate immunity regulator, pyrin | Usein (30–79%) | 2 sairaudessa |
| MLXMAX dimerization protein MLX | Usein (30–79%) | 1 sairaudessa |
| MPLMPL proto-oncogene, thrombopoietin receptor | Usein (30–79%) | 1 sairaudessa |
| MTTPmicrosomal triglyceride transfer protein | Usein (30–79%) | 1 sairaudessa |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Usein (30–79%) | 1 sairaudessa |
| NABP1nucleic acid binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| NAXDNAD(P)HX dehydratase | Usein (30–79%) | 1 sairaudessa |
| NCAPG2non-SMC condensin II complex subunit G2 | Usein (30–79%) | 1 sairaudessa |
| NHEJ1non-homologous end joining factor 1 | Usein (30–79%) | 2 sairaudessa |
| NUMA1nuclear mitotic apparatus protein 1 | Usein (30–79%) | 1 sairaudessa |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Usein (30–79%) | 1 sairaudessa |
| PACS2phosphofurin acidic cluster sorting protein 2 | Usein (30–79%) | 1 sairaudessa |
| PEPDpeptidase D | Usein (30–79%) | 1 sairaudessa |
| PHOX2Bpaired like homeobox 2B | Usein (30–79%) | 1 sairaudessa |
| PMLPML nuclear body scaffold | Usein (30–79%) | 1 sairaudessa |
| PRIM1DNA primase subunit 1 | Usein (30–79%) | 1 sairaudessa |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Usein (30–79%) | 1 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Usein (30–79%) | 2 sairaudessa |
| RAP1BRAP1B, member of RAS oncogene family | Usein (30–79%) | 1 sairaudessa |
| RARAretinoic acid receptor alpha | Usein (30–79%) | 1 sairaudessa |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Usein (30–79%) | 1 sairaudessa |
| RECQLRecQ like helicase | Usein (30–79%) | 1 sairaudessa |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Usein (30–79%) | 3 sairaudessa |
| RNF31ring finger protein 31 | Usein (30–79%) | 1 sairaudessa |
| SASH3SAM and SH3 domain containing 3 | Usein (30–79%) | 1 sairaudessa |
| SCARB2scavenger receptor class B member 2 | Usein (30–79%) | 1 sairaudessa |
| SHPKsedoheptulokinase | Usein (30–79%) | 1 sairaudessa |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Usein (30–79%) | 1 sairaudessa |
| SLC7A7solute carrier family 7 member 7 | Usein (30–79%) | 2 sairaudessa |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Usein (30–79%) | 2 sairaudessa |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Usein (30–79%) | 1 sairaudessa |
| SMPD1sphingomyelin phosphodiesterase 1 | Usein (30–79%) | 3 sairaudessa |
| SPTA1spectrin alpha, erythrocytic 1 | Usein (30–79%) | 1 sairaudessa |
| SPTBspectrin beta, erythrocytic | Usein (30–79%) | 1 sairaudessa |
| STAT3signal transducer and activator of transcription 3 | Usein (30–79%) | 1 sairaudessa |
| STAT5Bsignal transducer and activator of transcription 5B | Usein (30–79%) | 1 sairaudessa |
| STING1stimulator of interferon response cGAMP interactor 1 | Usein (30–79%) | 1 sairaudessa |
| SYKspleen associated tyrosine kinase | Usein (30–79%) | 1 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Usein (30–79%) | 1 sairaudessa |
| TCN2transcobalamin 2 | Usein (30–79%) | 1 sairaudessa |
| TET2tet methylcytosine dioxygenase 2 | Usein (30–79%) | 2 sairaudessa |
| TFRCtransferrin receptor | Usein (30–79%) | 1 sairaudessa |
| TMEM63Btransmembrane protein 63B | Usein (30–79%) | 1 sairaudessa |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Usein (30–79%) | 1 sairaudessa |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Usein (30–79%) | 1 sairaudessa |
| WASWASP actin nucleation promoting factor | Usein (30–79%) | 1 sairaudessa |
| YARS1tyrosyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| ZBTB16zinc finger and BTB domain containing 16 | Usein (30–79%) | 1 sairaudessa |
| ZBTB24zinc finger and BTB domain containing 24 | Usein (30–79%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Usein (30–79%) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| ABCA1ATP binding cassette subfamily A member 1 | Joskus (5–29%) | 1 sairaudessa |
| ADAadenosine deaminase | Joskus (5–29%) | 1 sairaudessa |
| ADA2adenosine deaminase 2 | Joskus (5–29%) | 1 sairaudessa |
| ALX4ALX homeobox 4 | Joskus (5–29%) | 1 sairaudessa |
| ANAPC1anaphase promoting complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| ANKRD55ankyrin repeat domain 55 | Joskus (5–29%) | 1 sairaudessa |
| ASXL1ASXL transcriptional regulator 1 | Joskus (5–29%) | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Joskus (5–29%) | 1 sairaudessa |
| BTKBruton tyrosine kinase | Joskus (5–29%) | 2 sairaudessa |
| BTNL2butyrophilin like 2 | Joskus (5–29%) | 1 sairaudessa |
| CA2carbonic anhydrase 2 | Joskus (5–29%) | 2 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| CBLCbl proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| CD247CD247 molecule | Joskus (5–29%) | 1 sairaudessa |
| CD4CD4 molecule | Joskus (5–29%) | 1 sairaudessa |
| CDC40cell division cycle 40 | Joskus (5–29%) | 1 sairaudessa |
| CHD7chromodomain helicase DNA binding protein 7 | Joskus (5–29%) | 1 sairaudessa |
| CISD2CDGSH iron sulfur domain 2 | Joskus (5–29%) | 1 sairaudessa |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Joskus (5–29%) | 1 sairaudessa |
| DBR1debranching RNA lariats 1 | Joskus (5–29%) | 1 sairaudessa |
| DCDC2doublecortin domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Joskus (5–29%) | 1 sairaudessa |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Joskus (5–29%) | 1 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Joskus (5–29%) | 1 sairaudessa |
| ETV6ETS variant transcription factor 6 | Joskus (5–29%) | 1 sairaudessa |
| EWSR1EWS RNA binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| EXT2exostosin glycosyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| F2coagulation factor II, thrombin | Joskus (5–29%) | 1 sairaudessa |
| F8coagulation factor VIII | Joskus (5–29%) | 1 sairaudessa |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| FBXO22F-box protein 22 | Joskus (5–29%) | 1 sairaudessa |
| FERMT1FERM domain containing kindlin 1 | Joskus (5–29%) | 1 sairaudessa |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Joskus (5–29%) | 1 sairaudessa |
| FTCDformimidoyltransferase cyclodeaminase | Joskus (5–29%) | 1 sairaudessa |
| GPC3glypican 3 | Joskus (5–29%) | 1 sairaudessa |
| GTF2E2general transcription factor IIE subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GTF2H5general transcription factor IIH subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| H19H19 imprinted maternally expressed transcript | Joskus (5–29%) | 1 sairaudessa |
| HPGD15-hydroxyprostaglandin dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| IFIH1interferon induced with helicase C domain 1 | Joskus (5–29%) | 1 sairaudessa |
| IKZF1IKAROS family zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| IL2RAinterleukin 2 receptor subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| IL2RBinterleukin 2 receptor subunit beta | Joskus (5–29%) | 1 sairaudessa |
| IL2RGinterleukin 2 receptor subunit gamma | Joskus (5–29%) | 1 sairaudessa |
| IL7Rinterleukin 7 receptor | Joskus (5–29%) | 1 sairaudessa |
| IRF4interferon regulatory factor 4 | Joskus (5–29%) | 1 sairaudessa |
| KIF15kinesin family member 15 | Joskus (5–29%) | 1 sairaudessa |
| KITKIT proto-oncogene, receptor tyrosine kinase | Joskus (5–29%) | 1 sairaudessa |
| LIG3DNA ligase 3 | Joskus (5–29%) | 1 sairaudessa |
| LMBRD1LMBR1 domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| MMUTmethylmalonyl-CoA mutase | Joskus (5–29%) | 2 sairaudessa |
| MPLKIPM-phase specific PLK1 interacting protein | Joskus (5–29%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Joskus (5–29%) | 1 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Joskus (5–29%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Joskus (5–29%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Joskus (5–29%) | 1 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Joskus (5–29%) | 1 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Joskus (5–29%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Joskus (5–29%) | 1 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Joskus (5–29%) | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Joskus (5–29%) | 2 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Joskus (5–29%) | 1 sairaudessa |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Joskus (5–29%) | 1 sairaudessa |
| NOD2nucleotide binding oligomerization domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| NUDCD3NudC domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Joskus (5–29%) | 1 sairaudessa |
| PAX2paired box 2 | Joskus (5–29%) | 1 sairaudessa |
| PBX1PBX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| PCNTpericentrin | Joskus (5–29%) | 1 sairaudessa |
| PDGFRAplatelet derived growth factor receptor alpha | Joskus (5–29%) | 1 sairaudessa |
| PHF21APHD finger protein 21A | Joskus (5–29%) | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| POLRMTRNA polymerase mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| POU6F2POU class 6 homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| PSMB10proteasome 20S subunit beta 10 | Joskus (5–29%) | 1 sairaudessa |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Joskus (5–29%) | 1 sairaudessa |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Joskus (5–29%) | 1 sairaudessa |
| RECQL4RecQ like helicase 4 | Joskus (5–29%) | 1 sairaudessa |
| RESTRE1 silencing transcription factor | Joskus (5–29%) | 1 sairaudessa |
| RNF113Aring finger protein 113A | Joskus (5–29%) | 1 sairaudessa |
| RNU7-1RNA, U7 small nuclear 1 | Joskus (5–29%) | 1 sairaudessa |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Joskus (5–29%) | 1 sairaudessa |
| RUNX1RUNX family transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Joskus (5–29%) | 2 sairaudessa |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Joskus (5–29%) | 2 sairaudessa |
| SDHCsuccinate dehydrogenase complex subunit C | Joskus (5–29%) | 2 sairaudessa |
| SLC25A13solute carrier family 25 member 13 | Joskus (5–29%) | 1 sairaudessa |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Joskus (5–29%) | 1 sairaudessa |
| SLF2SMC5/6 complex localization factor 2 | Joskus (5–29%) | 1 sairaudessa |
| SMC5structural maintenance of chromosomes 5 | Joskus (5–29%) | 1 sairaudessa |
| SP110SP110 nuclear body protein | Joskus (5–29%) | 1 sairaudessa |
| SRSF2serine and arginine rich splicing factor 2 | Joskus (5–29%) | 1 sairaudessa |
| STAT4signal transducer and activator of transcription 4 | Joskus (5–29%) | 1 sairaudessa |
| STK11serine/threonine kinase 11 | Joskus (5–29%) | 1 sairaudessa |
| TARS1threonyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| TGFB1transforming growth factor beta 1 | Joskus (5–29%) | 2 sairaudessa |
| TMEM67transmembrane protein 67 | Joskus (5–29%) | 2 sairaudessa |
| TRIM28tripartite motif containing 28 | Joskus (5–29%) | 1 sairaudessa |
| TRIP13thyroid hormone receptor interactor 13 | Joskus (5–29%) | 1 sairaudessa |
| TTRtransthyretin | Joskus (5–29%) | 1 sairaudessa |
| TYMPthymidine phosphorylase | Joskus (5–29%) | 1 sairaudessa |
| UNC45Aunc-45 myosin chaperone A | Joskus (5–29%) | 1 sairaudessa |
| WFS1wolframin ER transmembrane glycoprotein | Joskus (5–29%) | 1 sairaudessa |
| WT1WT1 transcription factor | Joskus (5–29%) | 2 sairaudessa |
| ACVR1activin A receptor type 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ASAH1N-acylsphingosine amidohydrolase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| HAVCR2hepatitis A virus cellular receptor 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PHKBphosphorylase kinase regulatory subunit beta | Harvinainen (1–4 %) | 1 sairaudessa |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PPOXprotoporphyrinogen oxidase | Harvinainen (1–4 %) | 1 sairaudessa |
| AASSaminoadipate-semialdehyde synthase | Ei kirjattu | 1 sairaudessa |
| ACAD8acyl-CoA dehydrogenase family member 8 | Ei kirjattu | 1 sairaudessa |
| ALPLalkaline phosphatase, biomineralization associated | Ei kirjattu | 1 sairaudessa |
| APTXaprataxin | Ei kirjattu | 1 sairaudessa |
| C3complement C3 | Ei kirjattu | 1 sairaudessa |
| CASRcalcium sensing receptor | Ei kirjattu | 1 sairaudessa |
| CD46CD46 molecule | Ei kirjattu | 1 sairaudessa |
| CDIN1CDAN1 interacting nuclease 1 | Ei kirjattu | 1 sairaudessa |
| CFBcomplement factor B | Ei kirjattu | 1 sairaudessa |
| CFIcomplement factor I | Ei kirjattu | 1 sairaudessa |
| COG1component of oligomeric golgi complex 1 | Ei kirjattu | 1 sairaudessa |
| COQ2coenzyme Q2, polyprenyltransferase | Ei kirjattu | 1 sairaudessa |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ei kirjattu | 1 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Ei kirjattu | 1 sairaudessa |
| COX6B1cytochrome c oxidase subunit 6B1 | Ei kirjattu | 1 sairaudessa |
| CPceruloplasmin | Ei kirjattu | 1 sairaudessa |
| CPOXcoproporphyrinogen oxidase | Ei kirjattu | 1 sairaudessa |
| ELANEelastase, neutrophil expressed | Ei kirjattu | 1 sairaudessa |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ei kirjattu | 1 sairaudessa |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ei kirjattu | 1 sairaudessa |
| FERMT3FERM domain containing kindlin 3 | Ei kirjattu | 1 sairaudessa |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Ei kirjattu | 1 sairaudessa |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ei kirjattu | 1 sairaudessa |
| GLRX5glutaredoxin 5 | Ei kirjattu | 1 sairaudessa |
| HAMPhepcidin antimicrobial peptide | Ei kirjattu | 1 sairaudessa |
| IFNGR1interferon gamma receptor 1 | Ei kirjattu | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Ei kirjattu | 1 sairaudessa |
| ITGA2Bintegrin subunit alpha 2b | Ei kirjattu | 1 sairaudessa |
| ITKIL2 inducible T cell kinase | Ei kirjattu | 1 sairaudessa |
| KIF1Bkinesin family member 1B | Ei kirjattu | 1 sairaudessa |
| LARS1leucyl-tRNA synthetase 1 | Ei kirjattu | 1 sairaudessa |
| MDM4MDM4 regulator of p53 | Ei kirjattu | 1 sairaudessa |
| MMAAmetabolism of cobalamin associated A | Ei kirjattu | 1 sairaudessa |
| MMABmetabolism of cobalamin associated B | Ei kirjattu | 1 sairaudessa |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ei kirjattu | 1 sairaudessa |
| MUC1mucin 1, cell surface associated | Ei kirjattu | 1 sairaudessa |
| NPHP1nephrocystin 1 | Ei kirjattu | 2 sairaudessa |
| NPHP4nephrocystin 4 | Ei kirjattu | 2 sairaudessa |
| PCCApropionyl-CoA carboxylase subunit alpha | Ei kirjattu | 1 sairaudessa |
| PCCBpropionyl-CoA carboxylase subunit beta | Ei kirjattu | 1 sairaudessa |
| PLECplectin | Ei kirjattu | 1 sairaudessa |
| PNPOpyridoxamine 5'-phosphate oxidase | Ei kirjattu | 1 sairaudessa |
| PSMB4proteasome 20S subunit beta 4 | Ei kirjattu | 1 sairaudessa |
| PTF1Apancreas associated transcription factor 1a | Ei kirjattu | 1 sairaudessa |
| RENrenin | Ei kirjattu | 1 sairaudessa |
| RPS27ribosomal protein S27 | Ei kirjattu | 1 sairaudessa |
| SAMD9Lsterile alpha motif domain containing 9 like | Ei kirjattu | 1 sairaudessa |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| SCO1synthesis of cytochrome C oxidase 1 | Ei kirjattu | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Ei kirjattu | 1 sairaudessa |
| SLC25A38solute carrier family 25 member 38 | Ei kirjattu | 1 sairaudessa |
| SLC40A1solute carrier family 40 member 1 | Ei kirjattu | 1 sairaudessa |
| SRP54signal recognition particle 54 | Ei kirjattu | 1 sairaudessa |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ei kirjattu | 1 sairaudessa |
| TACO1translational activator of cytochrome c oxidase I | Ei kirjattu | 1 sairaudessa |
| TBCEtubulin folding cofactor E | Ei kirjattu | 1 sairaudessa |
| TFR2transferrin receptor 2 | Ei kirjattu | 1 sairaudessa |
| THBDthrombomodulin | Ei kirjattu | 1 sairaudessa |
| THRAthyroid hormone receptor alpha | Ei kirjattu | 1 sairaudessa |
| TNFRSF11ATNF receptor superfamily member 11a | Ei kirjattu | 1 sairaudessa |
| TRNT1tRNA nucleotidyl transferase 1 | Ei kirjattu | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa