Požymis
Low number of red blood cells or hemoglobin
Klinikinis pavadinimas: Anemia
A reduction in erythrocytes volume or hemoglobin concentration.
Santrauka
- Taip pat vadinama
- Anaemia, Low number of red blood cells or haemoglobin
- Kūno sistema
- Abnormality of blood and blood-forming tissues
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Low number of red blood cells or hemoglobin, and the rest of your genome, with one test.
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Įsigyti savo Genome Test462 genų susiję su Low number of red blood cells or hemoglobin
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Low number of red blood cells or hemoglobin. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Visada | 2 ligose |
| ABCG8ATP binding cassette subfamily G member 8 | Visada | 1 ligoje |
| ACTN4actinin alpha 4 | Visada | 1 ligoje |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Visada | 1 ligoje |
| ALDOAaldolase, fructose-bisphosphate A | Visada | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Visada | 2 ligose |
| AMMECR1AMMECR nuclear protein 1 | Visada | 1 ligoje |
| ATP7BATPase copper transporting beta | Visada | 2 ligose |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Visada | 1 ligoje |
| CDK4cyclin dependent kinase 4 | Visada | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Visada | 4 ligose |
| COL3A1collagen type III alpha 1 chain | Visada | 1 ligoje |
| CYB561cytochrome b561 | Visada | 1 ligoje |
| DCLRE1CDNA cross-link repair 1C | Visada | 2 ligose |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Visada | 3 ligose |
| DPP9dipeptidyl peptidase 9 | Visada | 1 ligoje |
| ERCC6L2ERCC excision repair 6 like 2 | Visada | 1 ligoje |
| EXOC3L2exocyst complex component 3 like 2 | Visada | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Visada | 2 ligose |
| FANCCFA complementation group C | Visada | 2 ligose |
| FANCFFA complementation group F | Visada | 2 ligose |
| FANCIFA complementation group I | Visada | 2 ligose |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Visada | 1 ligoje |
| GATA2GATA binding protein 2 | Visada | 1 ligoje |
| GATBglutamyl-tRNA amidotransferase subunit B | Visada | 1 ligoje |
| GATCglutamyl-tRNA amidotransferase subunit C | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Visada | 1 ligoje |
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Visada | 1 ligoje |
| IFNGinterferon gamma | Visada | 2 ligose |
| IL27RAinterleukin 27 receptor subunit alpha | Visada | 1 ligoje |
| IL37interleukin 37 | Visada | 1 ligoje |
| IRF8interferon regulatory factor 8 | Visada | 1 ligoje |
| ISCUiron-sulfur cluster assembly enzyme | Visada | 1 ligoje |
| KLF1KLF transcription factor 1 | Visada | 3 ligose |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
Rodyti dar 422 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LIPAlipase A, lysosomal acid type | Visada | 2 ligose |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| LYRM7LYR motif containing 7 | Visada | 1 ligoje |
| LYSTlysosomal trafficking regulator | Visada | 2 ligose |
| LYZlysozyme | Visada | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Visada | 2 ligose |
| MAN2B2mannosidase alpha class 2B member 2 | Visada | 1 ligoje |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 1 ligoje |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Visada | 1 ligoje |
| MVKmevalonate kinase | Visada | 1 ligoje |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Visada | 1 ligoje |
| NEK8NIMA related kinase 8 | Visada | 1 ligoje |
| NLRC4NLR family CARD domain containing 4 | Visada | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Visada | 3 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| PLCG1phospholipase C gamma 1 | Visada | 1 ligoje |
| PLD4phospholipase D family member 4 | Visada | 1 ligoje |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Visada | 2 ligose |
| PRF1perforin 1 | Visada | 3 ligose |
| PROS1protein S | Visada | 1 ligoje |
| PSAPprosaposin | Visada | 2 ligose |
| PSKH1protein serine kinase H1 | Visada | 1 ligoje |
| PTCRApre T cell antigen receptor alpha | Visada | 1 ligoje |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Visada | 1 ligoje |
| RAG1recombination activating 1 | Visada | 2 ligose |
| RAG2recombination activating 2 | Visada | 2 ligose |
| RBM8ARNA binding motif protein 8A | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RC3H1ring finger and CCCH-type domains 1 | Visada | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Visada | 1 ligoje |
| RPL17ribosomal protein L17 | Visada | 1 ligoje |
| RPL27ribosomal protein L27 | Visada | 1 ligoje |
| RPS10ribosomal protein S10 | Visada | 1 ligoje |
| RPS15Aribosomal protein S15a | Visada | 1 ligoje |
| RPS26ribosomal protein S26 | Visada | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Visada | 3 ligose |
| SEC61A1SEC61 translocon subunit alpha 1 | Visada | 2 ligose |
| SERPINA6serpin family A member 6 | Visada | 1 ligoje |
| SLC11A2solute carrier family 11 member 2 | Visada | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Visada | 2 ligose |
| SLC4A2solute carrier family 4 member 2 | Visada | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Visada | 2 ligose |
| SPINK5serine peptidase inhibitor Kazal type 5 | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| SRP68signal recognition particle 68 | Visada | 1 ligoje |
| STAT2signal transducer and activator of transcription 2 | Visada | 1 ligoje |
| STEAP3STEAP3 metalloreductase | Visada | 2 ligose |
| STIM1stromal interaction molecule 1 | Visada | 2 ligose |
| STX11syntaxin 11 | Visada | 2 ligose |
| STXBP2syntaxin binding protein 2 | Visada | 2 ligose |
| TBXAS1thromboxane A synthase 1 | Visada | 2 ligose |
| TCF3transcription factor 3 | Visada | 1 ligoje |
| TERCtelomerase RNA component | Visada | 4 ligose |
| TERTtelomerase reverse transcriptase | Visada | 5 ligose |
| THPOthrombopoietin | Visada | 1 ligoje |
| TNFSF11TNF superfamily member 11 | Visada | 2 ligose |
| TP53tumor protein p53 | Visada | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Visada | 2 ligose |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Visada | 2 ligose |
| VPS45vacuolar protein sorting 45 homolog | Visada | 1 ligoje |
| ZNF808zinc finger protein 808 | Visada | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Labai dažnai (80–99%) | 2 ligose |
| AGXTalanine--glyoxylate aminotransferase | Labai dažnai (80–99%) | 1 ligoje |
| AK2adenylate kinase 2 | Labai dažnai (80–99%) | 2 ligose |
| ALAS25'-aminolevulinate synthase 2 | Labai dažnai (80–99%) | 1 ligoje |
| BCL10BCL10 immune signaling adaptor | Labai dažnai (80–99%) | 1 ligoje |
| BIRC3baculoviral IAP repeat containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Labai dažnai (80–99%) | 3 ligose |
| BRCA1BRCA1 DNA repair associated | Labai dažnai (80–99%) | 2 ligose |
| BRCA2BRCA2 DNA repair associated | Labai dažnai (80–99%) | 2 ligose |
| BRIP1BRCA1 interacting DNA helicase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CD55CD55 molecule (Cromer blood group) | Labai dažnai (80–99%) | 1 ligoje |
| COL7A1collagen type VII alpha 1 chain | Labai dažnai (80–99%) | 6 ligose |
| CTC1CST telomere replication complex component 1 | Labai dažnai (80–99%) | 2 ligose |
| DKC1dyskerin pseudouridine synthase 1 | Labai dažnai (80–99%) | 3 ligose |
| EFL1elongation factor like GTPase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Labai dažnai (80–99%) | 2 ligose |
| FANCAFA complementation group A | Labai dažnai (80–99%) | 2 ligose |
| FANCBFA complementation group B | Labai dažnai (80–99%) | 1 ligoje |
| FANCD2FA complementation group D2 | Labai dažnai (80–99%) | 2 ligose |
| FANCEFA complementation group E | Labai dažnai (80–99%) | 2 ligose |
| FANCGFA complementation group G | Labai dažnai (80–99%) | 2 ligose |
| FANCLFA complementation group L | Labai dažnai (80–99%) | 2 ligose |
| FANCMFA complementation group M | Labai dažnai (80–99%) | 1 ligoje |
| FOXP1forkhead box P1 | Labai dažnai (80–99%) | 1 ligoje |
| GATA1GATA binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| GLAgalactosidase alpha | Labai dažnai (80–99%) | 2 ligose |
| HBA1hemoglobin subunit alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Labai dažnai (80–99%) | 1 ligoje |
| HBBhemoglobin subunit beta | Labai dažnai (80–99%) | 4 ligose |
| HBDhemoglobin subunit delta | Labai dažnai (80–99%) | 1 ligoje |
| HBG1hemoglobin subunit gamma 1 | Labai dažnai (80–99%) | 2 ligose |
| HBG2hemoglobin subunit gamma 2 | Labai dažnai (80–99%) | 2 ligose |
| IGHimmunoglobulin heavy locus | Labai dažnai (80–99%) | 1 ligoje |
| KIF23kinesin family member 23 | Labai dažnai (80–99%) | 1 ligoje |
| MALT1MALT1 paracaspase | Labai dažnai (80–99%) | 1 ligoje |
| MMP1matrix metallopeptidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MYSM1Myb like, SWIRM and MPN domains 1 | Labai dažnai (80–99%) | 2 ligose |
| NHP2NHP2 ribonucleoprotein | Labai dažnai (80–99%) | 1 ligoje |
| NOP10NOP10 ribonucleoprotein | Labai dažnai (80–99%) | 1 ligoje |
| NPM1nucleophosmin 1 | Labai dažnai (80–99%) | 2 ligose |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Labai dažnai (80–99%) | 2 ligose |
| PALB2partner and localizer of BRCA2 | Labai dažnai (80–99%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Labai dažnai (80–99%) | 2 ligose |
| PFKMphosphofructokinase, muscle | Labai dažnai (80–99%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Labai dažnai (80–99%) | 1 ligoje |
| PKLRpyruvate kinase L/R | Labai dažnai (80–99%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Labai dažnai (80–99%) | 1 ligoje |
| PUS1pseudouridine synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| RACGAP1Rac GTPase activating protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAD51RAD51 recombinase | Labai dažnai (80–99%) | 1 ligoje |
| RAD51CRAD51 paralog C | Labai dažnai (80–99%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Labai dažnai (80–99%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Labai dažnai (80–99%) | 2 ligose |
| SAMD9sterile alpha motif domain containing 9 | Labai dažnai (80–99%) | 2 ligose |
| SLC35C1solute carrier family 35 member C1 | Labai dažnai (80–99%) | 1 ligoje |
| SMAD4SMAD family member 4 | Labai dažnai (80–99%) | 4 ligose |
| SNX10sorting nexin 10 | Labai dažnai (80–99%) | 2 ligose |
| TALDO1transaldolase 1 | Labai dažnai (80–99%) | 2 ligose |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Labai dažnai (80–99%) | 3 ligose |
| TFtransferrin | Labai dažnai (80–99%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Labai dažnai (80–99%) | 4 ligose |
| TYMSthymidylate synthetase | Labai dažnai (80–99%) | 2 ligose |
| UMPSuridine monophosphate synthetase | Labai dažnai (80–99%) | 1 ligoje |
| UNC13Dunc-13 homolog D | Labai dažnai (80–99%) | 2 ligose |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Labai dažnai (80–99%) | 1 ligoje |
| WRAP53WD repeat containing antisense to TP53 | Labai dažnai (80–99%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Labai dažnai (80–99%) | 1 ligoje |
| YARS2tyrosyl-tRNA synthetase 2 | Labai dažnai (80–99%) | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Labai dažnai (80–99%) | 1 ligoje |
| ACVRL1activin A receptor like type 1 | Dažnai (30–79%) | 2 ligose |
| ALKALK receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| AMNamnion associated transmembrane protein | Dažnai (30–79%) | 1 ligoje |
| ANK1ankyrin 1 | Dažnai (30–79%) | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Dažnai (30–79%) | 1 ligoje |
| BCORBCL6 corepressor | Dažnai (30–79%) | 1 ligoje |
| C1GALT1C1C1GALT1 specific chaperone 1 | Dažnai (30–79%) | 1 ligoje |
| C1QBcomplement C1q B chain | Dažnai (30–79%) | 1 ligoje |
| CALRcalreticulin | Dažnai (30–79%) | 1 ligoje |
| CCND1cyclin D1 | Dažnai (30–79%) | 1 ligoje |
| CDCA7cell division cycle associated 7 | Dažnai (30–79%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Dažnai (30–79%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Dažnai (30–79%) | 1 ligoje |
| COA8cytochrome c oxidase assembly factor 8 | Dažnai (30–79%) | 1 ligoje |
| COL17A1collagen type XVII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COPZ1coat protein complex I subunit zeta 1 | Dažnai (30–79%) | 1 ligoje |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Dažnai (30–79%) | 1 ligoje |
| DBHdopamine beta-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Dažnai (30–79%) | 1 ligoje |
| ENGendoglin | Dažnai (30–79%) | 3 ligose |
| EPB42erythrocyte membrane protein band 4.2 | Dažnai (30–79%) | 1 ligoje |
| EPHB4EPH receptor B4 | Dažnai (30–79%) | 1 ligoje |
| FAHfumarylacetoacetate hydrolase | Dažnai (30–79%) | 1 ligoje |
| FAM111AFAM111 trypsin like peptidase A | Dažnai (30–79%) | 2 ligose |
| FDXRferredoxin reductase | Dažnai (30–79%) | 1 ligoje |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Dažnai (30–79%) | 1 ligoje |
| FOCADfocadhesin | Dažnai (30–79%) | 1 ligoje |
| FOXP3forkhead box P3 | Dažnai (30–79%) | 1 ligoje |
| GALEUDP-galactose-4-epimerase | Dažnai (30–79%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Dažnai (30–79%) | 8 ligose |
| GDF2growth differentiation factor 2 | Dažnai (30–79%) | 1 ligoje |
| GNA14G protein subunit alpha 14 | Dažnai (30–79%) | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| HELLShelicase, lymphoid specific | Dažnai (30–79%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Dažnai (30–79%) | 3 ligose |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 2 ligose |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Dažnai (30–79%) | 2 ligose |
| HMOX1heme oxygenase 1 | Dažnai (30–79%) | 1 ligoje |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| IL12Binterleukin 12B | Dažnai (30–79%) | 1 ligoje |
| IRF1interferon regulatory factor 1 | Dažnai (30–79%) | 1 ligoje |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| ITGB4integrin subunit beta 4 | Dažnai (30–79%) | 1 ligoje |
| JAK2Janus kinase 2 | Dažnai (30–79%) | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| KRT14keratin 14 | Dažnai (30–79%) | 1 ligoje |
| KRT5keratin 5 | Dažnai (30–79%) | 1 ligoje |
| LAMA3laminin subunit alpha 3 | Dažnai (30–79%) | 2 ligose |
| LAMB3laminin subunit beta 3 | Dažnai (30–79%) | 2 ligose |
| LAMC2laminin subunit gamma 2 | Dažnai (30–79%) | 2 ligose |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Dažnai (30–79%) | 1 ligoje |
| LMO1LIM domain only 1 | Dažnai (30–79%) | 1 ligoje |
| MECOMMDS1 and EVI1 complex locus | Dažnai (30–79%) | 1 ligoje |
| MEFVMEFV innate immunity regulator, pyrin | Dažnai (30–79%) | 2 ligose |
| MLXMAX dimerization protein MLX | Dažnai (30–79%) | 1 ligoje |
| MPLMPL proto-oncogene, thrombopoietin receptor | Dažnai (30–79%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Dažnai (30–79%) | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Dažnai (30–79%) | 1 ligoje |
| NABP1nucleic acid binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| NAXDNAD(P)HX dehydratase | Dažnai (30–79%) | 1 ligoje |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Dažnai (30–79%) | 2 ligose |
| NUMA1nuclear mitotic apparatus protein 1 | Dažnai (30–79%) | 1 ligoje |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Dažnai (30–79%) | 1 ligoje |
| PEPDpeptidase D | Dažnai (30–79%) | 1 ligoje |
| PHOX2Bpaired like homeobox 2B | Dažnai (30–79%) | 1 ligoje |
| PMLPML nuclear body scaffold | Dažnai (30–79%) | 1 ligoje |
| PRIM1DNA primase subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Dažnai (30–79%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Dažnai (30–79%) | 2 ligose |
| RAP1BRAP1B, member of RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RARAretinoic acid receptor alpha | Dažnai (30–79%) | 1 ligoje |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Dažnai (30–79%) | 1 ligoje |
| RECQLRecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Dažnai (30–79%) | 3 ligose |
| RNF31ring finger protein 31 | Dažnai (30–79%) | 1 ligoje |
| SASH3SAM and SH3 domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| SCARB2scavenger receptor class B member 2 | Dažnai (30–79%) | 1 ligoje |
| SHPKsedoheptulokinase | Dažnai (30–79%) | 1 ligoje |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Dažnai (30–79%) | 1 ligoje |
| SLC7A7solute carrier family 7 member 7 | Dažnai (30–79%) | 2 ligose |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Dažnai (30–79%) | 2 ligose |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Dažnai (30–79%) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Dažnai (30–79%) | 3 ligose |
| SPTA1spectrin alpha, erythrocytic 1 | Dažnai (30–79%) | 1 ligoje |
| SPTBspectrin beta, erythrocytic | Dažnai (30–79%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| STAT5Bsignal transducer and activator of transcription 5B | Dažnai (30–79%) | 1 ligoje |
| STING1stimulator of interferon response cGAMP interactor 1 | Dažnai (30–79%) | 1 ligoje |
| SYKspleen associated tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 1 ligoje |
| TCN2transcobalamin 2 | Dažnai (30–79%) | 1 ligoje |
| TET2tet methylcytosine dioxygenase 2 | Dažnai (30–79%) | 2 ligose |
| TFRCtransferrin receptor | Dažnai (30–79%) | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Dažnai (30–79%) | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Dažnai (30–79%) | 1 ligoje |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Dažnai (30–79%) | 1 ligoje |
| WASWASP actin nucleation promoting factor | Dažnai (30–79%) | 1 ligoje |
| YARS1tyrosyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| ZBTB16zinc finger and BTB domain containing 16 | Dažnai (30–79%) | 1 ligoje |
| ZBTB24zinc finger and BTB domain containing 24 | Dažnai (30–79%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ABCA1ATP binding cassette subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| ADAadenosine deaminase | Kartais (5–29%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Kartais (5–29%) | 1 ligoje |
| ALX4ALX homeobox 4 | Kartais (5–29%) | 1 ligoje |
| ANAPC1anaphase promoting complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ANKRD55ankyrin repeat domain 55 | Kartais (5–29%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Kartais (5–29%) | 1 ligoje |
| ATRXATRX chromatin remodeler | Kartais (5–29%) | 1 ligoje |
| BTKBruton tyrosine kinase | Kartais (5–29%) | 2 ligose |
| BTNL2butyrophilin like 2 | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 2 ligose |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CBLCbl proto-oncogene | Kartais (5–29%) | 1 ligoje |
| CD247CD247 molecule | Kartais (5–29%) | 1 ligoje |
| CD4CD4 molecule | Kartais (5–29%) | 1 ligoje |
| CDC40cell division cycle 40 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 1 ligoje |
| CISD2CDGSH iron sulfur domain 2 | Kartais (5–29%) | 1 ligoje |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DCDC2doublecortin domain containing 2 | Kartais (5–29%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kartais (5–29%) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 1 ligoje |
| ETV6ETS variant transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| EWSR1EWS RNA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| F2coagulation factor II, thrombin | Kartais (5–29%) | 1 ligoje |
| F8coagulation factor VIII | Kartais (5–29%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FERMT1FERM domain containing kindlin 1 | Kartais (5–29%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Kartais (5–29%) | 1 ligoje |
| FTCDformimidoyltransferase cyclodeaminase | Kartais (5–29%) | 1 ligoje |
| GPC3glypican 3 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Kartais (5–29%) | 1 ligoje |
| HPGD15-hydroxyprostaglandin dehydrogenase | Kartais (5–29%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| IKZF1IKAROS family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| IL2RAinterleukin 2 receptor subunit alpha | Kartais (5–29%) | 1 ligoje |
| IL2RBinterleukin 2 receptor subunit beta | Kartais (5–29%) | 1 ligoje |
| IL2RGinterleukin 2 receptor subunit gamma | Kartais (5–29%) | 1 ligoje |
| IL7Rinterleukin 7 receptor | Kartais (5–29%) | 1 ligoje |
| IRF4interferon regulatory factor 4 | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| KITKIT proto-oncogene, receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| LIG3DNA ligase 3 | Kartais (5–29%) | 1 ligoje |
| LMBRD1LMBR1 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| MMUTmethylmalonyl-CoA mutase | Kartais (5–29%) | 2 ligose |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Kartais (5–29%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Kartais (5–29%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Kartais (5–29%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Kartais (5–29%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Kartais (5–29%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Kartais (5–29%) | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Kartais (5–29%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Kartais (5–29%) | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Kartais (5–29%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Kartais (5–29%) | 2 ligose |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Kartais (5–29%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Kartais (5–29%) | 1 ligoje |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NOD2nucleotide binding oligomerization domain containing 2 | Kartais (5–29%) | 1 ligoje |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Kartais (5–29%) | 1 ligoje |
| NUDCD3NudC domain containing 3 | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 1 ligoje |
| PAX2paired box 2 | Kartais (5–29%) | 1 ligoje |
| PBX1PBX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| PCNTpericentrin | Kartais (5–29%) | 1 ligoje |
| PDGFRAplatelet derived growth factor receptor alpha | Kartais (5–29%) | 1 ligoje |
| PHF21APHD finger protein 21A | Kartais (5–29%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| POU6F2POU class 6 homeobox 2 | Kartais (5–29%) | 1 ligoje |
| PSMB10proteasome 20S subunit beta 10 | Kartais (5–29%) | 1 ligoje |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Kartais (5–29%) | 1 ligoje |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Kartais (5–29%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Kartais (5–29%) | 1 ligoje |
| RESTRE1 silencing transcription factor | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| RUNX1RUNX family transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Kartais (5–29%) | 2 ligose |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Kartais (5–29%) | 2 ligose |
| SDHCsuccinate dehydrogenase complex subunit C | Kartais (5–29%) | 2 ligose |
| SLC25A13solute carrier family 25 member 13 | Kartais (5–29%) | 1 ligoje |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Kartais (5–29%) | 1 ligoje |
| SLF2SMC5/6 complex localization factor 2 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SP110SP110 nuclear body protein | Kartais (5–29%) | 1 ligoje |
| SRSF2serine and arginine rich splicing factor 2 | Kartais (5–29%) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Kartais (5–29%) | 1 ligoje |
| STK11serine/threonine kinase 11 | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Kartais (5–29%) | 2 ligose |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 2 ligose |
| TRIM28tripartite motif containing 28 | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| TTRtransthyretin | Kartais (5–29%) | 1 ligoje |
| TYMPthymidine phosphorylase | Kartais (5–29%) | 1 ligoje |
| UNC45Aunc-45 myosin chaperone A | Kartais (5–29%) | 1 ligoje |
| WFS1wolframin ER transmembrane glycoprotein | Kartais (5–29%) | 1 ligoje |
| WT1WT1 transcription factor | Kartais (5–29%) | 2 ligose |
| ACVR1activin A receptor type 1 | Retai (1–4 %) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Retai (1–4 %) | 1 ligoje |
| HAVCR2hepatitis A virus cellular receptor 2 | Retai (1–4 %) | 1 ligoje |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Retai (1–4 %) | 1 ligoje |
| PHKBphosphorylase kinase regulatory subunit beta | Retai (1–4 %) | 1 ligoje |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Retai (1–4 %) | 1 ligoje |
| PPOXprotoporphyrinogen oxidase | Retai (1–4 %) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Neužfiksuota | 1 ligoje |
| ACAD8acyl-CoA dehydrogenase family member 8 | Neužfiksuota | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| APTXaprataxin | Neužfiksuota | 1 ligoje |
| C3complement C3 | Neužfiksuota | 1 ligoje |
| CASRcalcium sensing receptor | Neužfiksuota | 1 ligoje |
| CD46CD46 molecule | Neužfiksuota | 1 ligoje |
| CDIN1CDAN1 interacting nuclease 1 | Neužfiksuota | 1 ligoje |
| CFBcomplement factor B | Neužfiksuota | 1 ligoje |
| CFIcomplement factor I | Neužfiksuota | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Neužfiksuota | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Neužfiksuota | 1 ligoje |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Neužfiksuota | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Neužfiksuota | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Neužfiksuota | 1 ligoje |
| CPceruloplasmin | Neužfiksuota | 1 ligoje |
| CPOXcoproporphyrinogen oxidase | Neužfiksuota | 1 ligoje |
| ELANEelastase, neutrophil expressed | Neužfiksuota | 1 ligoje |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Neužfiksuota | 1 ligoje |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Neužfiksuota | 1 ligoje |
| FERMT3FERM domain containing kindlin 3 | Neužfiksuota | 1 ligoje |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Neužfiksuota | 1 ligoje |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Neužfiksuota | 1 ligoje |
| GLRX5glutaredoxin 5 | Neužfiksuota | 1 ligoje |
| HAMPhepcidin antimicrobial peptide | Neužfiksuota | 1 ligoje |
| IFNGR1interferon gamma receptor 1 | Neužfiksuota | 1 ligoje |
| IFT140intraflagellar transport 140 | Neužfiksuota | 1 ligoje |
| ITGA2Bintegrin subunit alpha 2b | Neužfiksuota | 1 ligoje |
| ITKIL2 inducible T cell kinase | Neužfiksuota | 1 ligoje |
| KIF1Bkinesin family member 1B | Neužfiksuota | 1 ligoje |
| LARS1leucyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| MDM4MDM4 regulator of p53 | Neužfiksuota | 1 ligoje |
| MMAAmetabolism of cobalamin associated A | Neužfiksuota | 1 ligoje |
| MMABmetabolism of cobalamin associated B | Neužfiksuota | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Neužfiksuota | 1 ligoje |
| MUC1mucin 1, cell surface associated | Neužfiksuota | 1 ligoje |
| NPHP1nephrocystin 1 | Neužfiksuota | 2 ligose |
| NPHP4nephrocystin 4 | Neužfiksuota | 2 ligose |
| PCCApropionyl-CoA carboxylase subunit alpha | Neužfiksuota | 1 ligoje |
| PCCBpropionyl-CoA carboxylase subunit beta | Neužfiksuota | 1 ligoje |
| PLECplectin | Neužfiksuota | 1 ligoje |
| PNPOpyridoxamine 5'-phosphate oxidase | Neužfiksuota | 1 ligoje |
| PSMB4proteasome 20S subunit beta 4 | Neužfiksuota | 1 ligoje |
| PTF1Apancreas associated transcription factor 1a | Neužfiksuota | 1 ligoje |
| RENrenin | Neužfiksuota | 1 ligoje |
| RPS27ribosomal protein S27 | Neužfiksuota | 1 ligoje |
| SAMD9Lsterile alpha motif domain containing 9 like | Neužfiksuota | 1 ligoje |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Neužfiksuota | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Neužfiksuota | 1 ligoje |
| SLC25A38solute carrier family 25 member 38 | Neužfiksuota | 1 ligoje |
| SLC40A1solute carrier family 40 member 1 | Neužfiksuota | 1 ligoje |
| SRP54signal recognition particle 54 | Neužfiksuota | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Neužfiksuota | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Neužfiksuota | 1 ligoje |
| TBCEtubulin folding cofactor E | Neužfiksuota | 1 ligoje |
| TFR2transferrin receptor 2 | Neužfiksuota | 1 ligoje |
| THBDthrombomodulin | Neužfiksuota | 1 ligoje |
| THRAthyroid hormone receptor alpha | Neužfiksuota | 1 ligoje |
| TNFRSF11ATNF receptor superfamily member 11a | Neužfiksuota | 1 ligoje |
| TRNT1tRNA nucleotidyl transferase 1 | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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