Kenmerk
Low number of red blood cells or hemoglobin
Klinische naam: Anemia
A reduction in erythrocytes volume or hemoglobin concentration.
Samenvatting
- Ook bekend als
- Anaemia, Low number of red blood cells or haemoglobin
- Lichaamssysteem
- Abnormality of blood and blood-forming tissues
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Low number of red blood cells or hemoglobin voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altijd | In 2 aandoeningen |
| ABCG8ATP binding cassette subfamily G member 8 | Altijd | In 1 aandoening |
| ACTN4actinin alpha 4 | Altijd | In 1 aandoening |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Altijd | In 1 aandoening |
| ALDOAaldolase, fructose-bisphosphate A | Altijd | In 1 aandoening |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Altijd | In 2 aandoeningen |
| AMMECR1AMMECR nuclear protein 1 | Altijd | In 1 aandoening |
| ATP7BATPase copper transporting beta | Altijd | In 2 aandoeningen |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Altijd | In 1 aandoening |
| CDK4cyclin dependent kinase 4 | Altijd | In 1 aandoening |
| CLCN7Cl-/H+ antiporter 7 | Altijd | In 4 aandoeningen |
| COL3A1collagen type III alpha 1 chain | Altijd | In 1 aandoening |
| CYB561cytochrome b561 | Altijd | In 1 aandoening |
| DCLRE1CDNA cross-link repair 1C | Altijd | In 2 aandoeningen |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Altijd | In 3 aandoeningen |
| DPP9dipeptidyl peptidase 9 | Altijd | In 1 aandoening |
| ERCC6L2ERCC excision repair 6 like 2 | Altijd | In 1 aandoening |
| EXOC3L2exocyst complex component 3 like 2 | Altijd | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Altijd | In 2 aandoeningen |
| FANCCFA complementation group C | Altijd | In 2 aandoeningen |
| FANCFFA complementation group F | Altijd | In 2 aandoeningen |
| FANCIFA complementation group I | Altijd | In 2 aandoeningen |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altijd | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Altijd | In 1 aandoening |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Altijd | In 1 aandoening |
| GATA2GATA binding protein 2 | Altijd | In 1 aandoening |
| GATBglutamyl-tRNA amidotransferase subunit B | Altijd | In 1 aandoening |
| GATCglutamyl-tRNA amidotransferase subunit C | Altijd | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Altijd | In 1 aandoening |
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Altijd | In 1 aandoening |
| IFNGinterferon gamma | Altijd | In 2 aandoeningen |
| IL27RAinterleukin 27 receptor subunit alpha | Altijd | In 1 aandoening |
| IL37interleukin 37 | Altijd | In 1 aandoening |
| IRF8interferon regulatory factor 8 | Altijd | In 1 aandoening |
| ISCUiron-sulfur cluster assembly enzyme | Altijd | In 1 aandoening |
| KLF1KLF transcription factor 1 | Altijd | In 3 aandoeningen |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
Toon nog 422 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| LIPAlipase A, lysosomal acid type | Altijd | In 2 aandoeningen |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| LYRM7LYR motif containing 7 | Altijd | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Altijd | In 2 aandoeningen |
| LYZlysozyme | Altijd | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Altijd | In 2 aandoeningen |
| MAN2B2mannosidase alpha class 2B member 2 | Altijd | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 1 aandoening |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Altijd | In 1 aandoening |
| MVKmevalonate kinase | Altijd | In 1 aandoening |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Altijd | In 1 aandoening |
| NEK8NIMA related kinase 8 | Altijd | In 1 aandoening |
| NLRC4NLR family CARD domain containing 4 | Altijd | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Altijd | In 3 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 1 aandoening |
| PLCG1phospholipase C gamma 1 | Altijd | In 1 aandoening |
| PLD4phospholipase D family member 4 | Altijd | In 1 aandoening |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Altijd | In 2 aandoeningen |
| PRF1perforin 1 | Altijd | In 3 aandoeningen |
| PROS1protein S | Altijd | In 1 aandoening |
| PSAPprosaposin | Altijd | In 2 aandoeningen |
| PSKH1protein serine kinase H1 | Altijd | In 1 aandoening |
| PTCRApre T cell antigen receptor alpha | Altijd | In 1 aandoening |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Altijd | In 1 aandoening |
| RAG1recombination activating 1 | Altijd | In 2 aandoeningen |
| RAG2recombination activating 2 | Altijd | In 2 aandoeningen |
| RBM8ARNA binding motif protein 8A | Altijd | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Altijd | In 1 aandoening |
| RC3H1ring finger and CCCH-type domains 1 | Altijd | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Altijd | In 1 aandoening |
| RPL17ribosomal protein L17 | Altijd | In 1 aandoening |
| RPL27ribosomal protein L27 | Altijd | In 1 aandoening |
| RPS10ribosomal protein S10 | Altijd | In 1 aandoening |
| RPS15Aribosomal protein S15a | Altijd | In 1 aandoening |
| RPS26ribosomal protein S26 | Altijd | In 1 aandoening |
| SBDSSBDS ribosome maturation factor | Altijd | In 3 aandoeningen |
| SEC61A1SEC61 translocon subunit alpha 1 | Altijd | In 2 aandoeningen |
| SERPINA6serpin family A member 6 | Altijd | In 1 aandoening |
| SLC11A2solute carrier family 11 member 2 | Altijd | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Altijd | In 2 aandoeningen |
| SLC4A2solute carrier family 4 member 2 | Altijd | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Altijd | In 2 aandoeningen |
| SPINK5serine peptidase inhibitor Kazal type 5 | Altijd | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| SRP68signal recognition particle 68 | Altijd | In 1 aandoening |
| STAT2signal transducer and activator of transcription 2 | Altijd | In 1 aandoening |
| STEAP3STEAP3 metalloreductase | Altijd | In 2 aandoeningen |
| STIM1stromal interaction molecule 1 | Altijd | In 2 aandoeningen |
| STX11syntaxin 11 | Altijd | In 2 aandoeningen |
| STXBP2syntaxin binding protein 2 | Altijd | In 2 aandoeningen |
| TBXAS1thromboxane A synthase 1 | Altijd | In 2 aandoeningen |
| TCF3transcription factor 3 | Altijd | In 1 aandoening |
| TERCtelomerase RNA component | Altijd | In 4 aandoeningen |
| TERTtelomerase reverse transcriptase | Altijd | In 5 aandoeningen |
| THPOthrombopoietin | Altijd | In 1 aandoening |
| TNFSF11TNF superfamily member 11 | Altijd | In 2 aandoeningen |
| TP53tumor protein p53 | Altijd | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Altijd | In 2 aandoeningen |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Altijd | In 2 aandoeningen |
| VPS45vacuolar protein sorting 45 homolog | Altijd | In 1 aandoening |
| ZNF808zinc finger protein 808 | Altijd | In 1 aandoening |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Heel vaak (80–99%) | In 2 aandoeningen |
| AGXTalanine--glyoxylate aminotransferase | Heel vaak (80–99%) | In 1 aandoening |
| AK2adenylate kinase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ALAS25'-aminolevulinate synthase 2 | Heel vaak (80–99%) | In 1 aandoening |
| BCL10BCL10 immune signaling adaptor | Heel vaak (80–99%) | In 1 aandoening |
| BIRC3baculoviral IAP repeat containing 3 | Heel vaak (80–99%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Heel vaak (80–99%) | In 3 aandoeningen |
| BRCA1BRCA1 DNA repair associated | Heel vaak (80–99%) | In 2 aandoeningen |
| BRCA2BRCA2 DNA repair associated | Heel vaak (80–99%) | In 2 aandoeningen |
| BRIP1BRCA1 interacting DNA helicase 1 | Heel vaak (80–99%) | In 1 aandoening |
| CD55CD55 molecule (Cromer blood group) | Heel vaak (80–99%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Heel vaak (80–99%) | In 6 aandoeningen |
| CTC1CST telomere replication complex component 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DKC1dyskerin pseudouridine synthase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| EFL1elongation factor like GTPase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| FANCAFA complementation group A | Heel vaak (80–99%) | In 2 aandoeningen |
| FANCBFA complementation group B | Heel vaak (80–99%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Heel vaak (80–99%) | In 2 aandoeningen |
| FANCEFA complementation group E | Heel vaak (80–99%) | In 2 aandoeningen |
| FANCGFA complementation group G | Heel vaak (80–99%) | In 2 aandoeningen |
| FANCLFA complementation group L | Heel vaak (80–99%) | In 2 aandoeningen |
| FANCMFA complementation group M | Heel vaak (80–99%) | In 1 aandoening |
| FOXP1forkhead box P1 | Heel vaak (80–99%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| GLAgalactosidase alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| HBA1hemoglobin subunit alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| HBA2hemoglobin subunit alpha 2 | Heel vaak (80–99%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Heel vaak (80–99%) | In 4 aandoeningen |
| HBDhemoglobin subunit delta | Heel vaak (80–99%) | In 1 aandoening |
| HBG1hemoglobin subunit gamma 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| HBG2hemoglobin subunit gamma 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| IGHimmunoglobulin heavy locus | Heel vaak (80–99%) | In 1 aandoening |
| KIF23kinesin family member 23 | Heel vaak (80–99%) | In 1 aandoening |
| MALT1MALT1 paracaspase | Heel vaak (80–99%) | In 1 aandoening |
| MMP1matrix metallopeptidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MYSM1Myb like, SWIRM and MPN domains 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NHP2NHP2 ribonucleoprotein | Heel vaak (80–99%) | In 1 aandoening |
| NOP10NOP10 ribonucleoprotein | Heel vaak (80–99%) | In 1 aandoening |
| NPM1nucleophosmin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PALB2partner and localizer of BRCA2 | Heel vaak (80–99%) | In 1 aandoening |
| PARNpoly(A)-specific ribonuclease | Heel vaak (80–99%) | In 2 aandoeningen |
| PFKMphosphofructokinase, muscle | Heel vaak (80–99%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Heel vaak (80–99%) | In 1 aandoening |
| PKLRpyruvate kinase L/R | Heel vaak (80–99%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Heel vaak (80–99%) | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Heel vaak (80–99%) | In 1 aandoening |
| RACGAP1Rac GTPase activating protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RAD51RAD51 recombinase | Heel vaak (80–99%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Heel vaak (80–99%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Heel vaak (80–99%) | In 1 aandoening |
| RTEL1regulator of telomere elongation helicase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SAMD9sterile alpha motif domain containing 9 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC35C1solute carrier family 35 member C1 | Heel vaak (80–99%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Heel vaak (80–99%) | In 4 aandoeningen |
| SNX10sorting nexin 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| TALDO1transaldolase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Heel vaak (80–99%) | In 3 aandoeningen |
| TFtransferrin | Heel vaak (80–99%) | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| TYMSthymidylate synthetase | Heel vaak (80–99%) | In 2 aandoeningen |
| UMPSuridine monophosphate synthetase | Heel vaak (80–99%) | In 1 aandoening |
| UNC13Dunc-13 homolog D | Heel vaak (80–99%) | In 2 aandoeningen |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Heel vaak (80–99%) | In 1 aandoening |
| WRAP53WD repeat containing antisense to TP53 | Heel vaak (80–99%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Heel vaak (80–99%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Heel vaak (80–99%) | In 1 aandoening |
| ZBTB20zinc finger and BTB domain containing 20 | Heel vaak (80–99%) | In 1 aandoening |
| ACVRL1activin A receptor like type 1 | Vaak (30–79%) | In 2 aandoeningen |
| ALKALK receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| AMNamnion associated transmembrane protein | Vaak (30–79%) | In 1 aandoening |
| ANK1ankyrin 1 | Vaak (30–79%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| BCORBCL6 corepressor | Vaak (30–79%) | In 1 aandoening |
| C1GALT1C1C1GALT1 specific chaperone 1 | Vaak (30–79%) | In 1 aandoening |
| C1QBcomplement C1q B chain | Vaak (30–79%) | In 1 aandoening |
| CALRcalreticulin | Vaak (30–79%) | In 1 aandoening |
| CCND1cyclin D1 | Vaak (30–79%) | In 1 aandoening |
| CDCA7cell division cycle associated 7 | Vaak (30–79%) | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Vaak (30–79%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 1 aandoening |
| COA8cytochrome c oxidase assembly factor 8 | Vaak (30–79%) | In 1 aandoening |
| COL17A1collagen type XVII alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COPZ1coat protein complex I subunit zeta 1 | Vaak (30–79%) | In 1 aandoening |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Vaak (30–79%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| DNMT3BDNA methyltransferase 3 beta | Vaak (30–79%) | In 1 aandoening |
| ENGendoglin | Vaak (30–79%) | In 3 aandoeningen |
| EPB42erythrocyte membrane protein band 4.2 | Vaak (30–79%) | In 1 aandoening |
| EPHB4EPH receptor B4 | Vaak (30–79%) | In 1 aandoening |
| FAHfumarylacetoacetate hydrolase | Vaak (30–79%) | In 1 aandoening |
| FAM111AFAM111 trypsin like peptidase A | Vaak (30–79%) | In 2 aandoeningen |
| FDXRferredoxin reductase | Vaak (30–79%) | In 1 aandoening |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Vaak (30–79%) | In 1 aandoening |
| FOCADfocadhesin | Vaak (30–79%) | In 1 aandoening |
| FOXP3forkhead box P3 | Vaak (30–79%) | In 1 aandoening |
| GALEUDP-galactose-4-epimerase | Vaak (30–79%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Vaak (30–79%) | In 8 aandoeningen |
| GDF2growth differentiation factor 2 | Vaak (30–79%) | In 1 aandoening |
| GNA14G protein subunit alpha 14 | Vaak (30–79%) | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 1 aandoening |
| HELLShelicase, lymphoid specific | Vaak (30–79%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Vaak (30–79%) | In 3 aandoeningen |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| HMBShydroxymethylbilane synthase | Vaak (30–79%) | In 1 aandoening |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Vaak (30–79%) | In 2 aandoeningen |
| HMOX1heme oxygenase 1 | Vaak (30–79%) | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| IL12Binterleukin 12B | Vaak (30–79%) | In 1 aandoening |
| IRF1interferon regulatory factor 1 | Vaak (30–79%) | In 1 aandoening |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| ITGB4integrin subunit beta 4 | Vaak (30–79%) | In 1 aandoening |
| JAK2Janus kinase 2 | Vaak (30–79%) | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| KRT14keratin 14 | Vaak (30–79%) | In 1 aandoening |
| KRT5keratin 5 | Vaak (30–79%) | In 1 aandoening |
| LAMA3laminin subunit alpha 3 | Vaak (30–79%) | In 2 aandoeningen |
| LAMB3laminin subunit beta 3 | Vaak (30–79%) | In 2 aandoeningen |
| LAMC2laminin subunit gamma 2 | Vaak (30–79%) | In 2 aandoeningen |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Vaak (30–79%) | In 1 aandoening |
| LMO1LIM domain only 1 | Vaak (30–79%) | In 1 aandoening |
| MECOMMDS1 and EVI1 complex locus | Vaak (30–79%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Vaak (30–79%) | In 2 aandoeningen |
| MLXMAX dimerization protein MLX | Vaak (30–79%) | In 1 aandoening |
| MPLMPL proto-oncogene, thrombopoietin receptor | Vaak (30–79%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Vaak (30–79%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Vaak (30–79%) | In 1 aandoening |
| NABP1nucleic acid binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| NAXDNAD(P)HX dehydratase | Vaak (30–79%) | In 1 aandoening |
| NCAPG2non-SMC condensin II complex subunit G2 | Vaak (30–79%) | In 1 aandoening |
| NHEJ1non-homologous end joining factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| NUMA1nuclear mitotic apparatus protein 1 | Vaak (30–79%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Vaak (30–79%) | In 1 aandoening |
| PEPDpeptidase D | Vaak (30–79%) | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Vaak (30–79%) | In 1 aandoening |
| PMLPML nuclear body scaffold | Vaak (30–79%) | In 1 aandoening |
| PRIM1DNA primase subunit 1 | Vaak (30–79%) | In 1 aandoening |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Vaak (30–79%) | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Vaak (30–79%) | In 2 aandoeningen |
| RAP1BRAP1B, member of RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RARAretinoic acid receptor alpha | Vaak (30–79%) | In 1 aandoening |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Vaak (30–79%) | In 1 aandoening |
| RECQLRecQ like helicase | Vaak (30–79%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Vaak (30–79%) | In 3 aandoeningen |
| RNF31ring finger protein 31 | Vaak (30–79%) | In 1 aandoening |
| SASH3SAM and SH3 domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| SCARB2scavenger receptor class B member 2 | Vaak (30–79%) | In 1 aandoening |
| SHPKsedoheptulokinase | Vaak (30–79%) | In 1 aandoening |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Vaak (30–79%) | In 1 aandoening |
| SLC7A7solute carrier family 7 member 7 | Vaak (30–79%) | In 2 aandoeningen |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Vaak (30–79%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Vaak (30–79%) | In 3 aandoeningen |
| SPTA1spectrin alpha, erythrocytic 1 | Vaak (30–79%) | In 1 aandoening |
| SPTBspectrin beta, erythrocytic | Vaak (30–79%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 1 aandoening |
| STAT5Bsignal transducer and activator of transcription 5B | Vaak (30–79%) | In 1 aandoening |
| STING1stimulator of interferon response cGAMP interactor 1 | Vaak (30–79%) | In 1 aandoening |
| SYKspleen associated tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| TBL1XR1TBL1X/Y related 1 | Vaak (30–79%) | In 1 aandoening |
| TCN2transcobalamin 2 | Vaak (30–79%) | In 1 aandoening |
| TET2tet methylcytosine dioxygenase 2 | Vaak (30–79%) | In 2 aandoeningen |
| TFRCtransferrin receptor | Vaak (30–79%) | In 1 aandoening |
| TMEM63Btransmembrane protein 63B | Vaak (30–79%) | In 1 aandoening |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Vaak (30–79%) | In 1 aandoening |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Vaak (30–79%) | In 1 aandoening |
| WASWASP actin nucleation promoting factor | Vaak (30–79%) | In 1 aandoening |
| YARS1tyrosyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| ZBTB16zinc finger and BTB domain containing 16 | Vaak (30–79%) | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Vaak (30–79%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ABCA1ATP binding cassette subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| ADAadenosine deaminase | Soms (5–29%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Soms (5–29%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Soms (5–29%) | In 1 aandoening |
| ANAPC1anaphase promoting complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| ANKRD55ankyrin repeat domain 55 | Soms (5–29%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Soms (5–29%) | In 1 aandoening |
| BTKBruton tyrosine kinase | Soms (5–29%) | In 2 aandoeningen |
| BTNL2butyrophilin like 2 | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 2 aandoeningen |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CBLCbl proto-oncogene | Soms (5–29%) | In 1 aandoening |
| CD247CD247 molecule | Soms (5–29%) | In 1 aandoening |
| CD4CD4 molecule | Soms (5–29%) | In 1 aandoening |
| CDC40cell division cycle 40 | Soms (5–29%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DCDC2doublecortin domain containing 2 | Soms (5–29%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Soms (5–29%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Soms (5–29%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Soms (5–29%) | In 1 aandoening |
| ETV6ETS variant transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| EWSR1EWS RNA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| F2coagulation factor II, thrombin | Soms (5–29%) | In 1 aandoening |
| F8coagulation factor VIII | Soms (5–29%) | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FERMT1FERM domain containing kindlin 1 | Soms (5–29%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Soms (5–29%) | In 1 aandoening |
| FTCDformimidoyltransferase cyclodeaminase | Soms (5–29%) | In 1 aandoening |
| GPC3glypican 3 | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Soms (5–29%) | In 1 aandoening |
| HPGD15-hydroxyprostaglandin dehydrogenase | Soms (5–29%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Soms (5–29%) | In 1 aandoening |
| IKZF1IKAROS family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| IL2RAinterleukin 2 receptor subunit alpha | Soms (5–29%) | In 1 aandoening |
| IL2RBinterleukin 2 receptor subunit beta | Soms (5–29%) | In 1 aandoening |
| IL2RGinterleukin 2 receptor subunit gamma | Soms (5–29%) | In 1 aandoening |
| IL7Rinterleukin 7 receptor | Soms (5–29%) | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Soms (5–29%) | In 1 aandoening |
| KIF15kinesin family member 15 | Soms (5–29%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| LIG3DNA ligase 3 | Soms (5–29%) | In 1 aandoening |
| LMBRD1LMBR1 domain containing 1 | Soms (5–29%) | In 1 aandoening |
| MMUTmethylmalonyl-CoA mutase | Soms (5–29%) | In 2 aandoeningen |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Soms (5–29%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Soms (5–29%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Soms (5–29%) | In 2 aandoeningen |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Soms (5–29%) | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Soms (5–29%) | In 1 aandoening |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Soms (5–29%) | In 1 aandoening |
| NUDCD3NudC domain containing 3 | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 1 aandoening |
| PAX2paired box 2 | Soms (5–29%) | In 1 aandoening |
| PBX1PBX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| PCNTpericentrin | Soms (5–29%) | In 1 aandoening |
| PDGFRAplatelet derived growth factor receptor alpha | Soms (5–29%) | In 1 aandoening |
| PHF21APHD finger protein 21A | Soms (5–29%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLRMTRNA polymerase mitochondrial | Soms (5–29%) | In 1 aandoening |
| POU6F2POU class 6 homeobox 2 | Soms (5–29%) | In 1 aandoening |
| PSMB10proteasome 20S subunit beta 10 | Soms (5–29%) | In 1 aandoening |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Soms (5–29%) | In 1 aandoening |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Soms (5–29%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Soms (5–29%) | In 1 aandoening |
| RESTRE1 silencing transcription factor | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 1 aandoening |
| RUNX1RUNX family transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Soms (5–29%) | In 2 aandoeningen |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Soms (5–29%) | In 2 aandoeningen |
| SDHCsuccinate dehydrogenase complex subunit C | Soms (5–29%) | In 2 aandoeningen |
| SLC25A13solute carrier family 25 member 13 | Soms (5–29%) | In 1 aandoening |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Soms (5–29%) | In 1 aandoening |
| SLF2SMC5/6 complex localization factor 2 | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SP110SP110 nuclear body protein | Soms (5–29%) | In 1 aandoening |
| SRSF2serine and arginine rich splicing factor 2 | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| STK11serine/threonine kinase 11 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Soms (5–29%) | In 2 aandoeningen |
| TMEM67transmembrane protein 67 | Soms (5–29%) | In 2 aandoeningen |
| TRIM28tripartite motif containing 28 | Soms (5–29%) | In 1 aandoening |
| TRIP13thyroid hormone receptor interactor 13 | Soms (5–29%) | In 1 aandoening |
| TTRtransthyretin | Soms (5–29%) | In 1 aandoening |
| TYMPthymidine phosphorylase | Soms (5–29%) | In 1 aandoening |
| UNC45Aunc-45 myosin chaperone A | Soms (5–29%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 1 aandoening |
| WT1WT1 transcription factor | Soms (5–29%) | In 2 aandoeningen |
| ACVR1activin A receptor type 1 | Zelden (1–4%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Zelden (1–4%) | In 1 aandoening |
| HAVCR2hepatitis A virus cellular receptor 2 | Zelden (1–4%) | In 1 aandoening |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Zelden (1–4%) | In 1 aandoening |
| PHKBphosphorylase kinase regulatory subunit beta | Zelden (1–4%) | In 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Zelden (1–4%) | In 1 aandoening |
| PPOXprotoporphyrinogen oxidase | Zelden (1–4%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Niet vastgelegd | In 1 aandoening |
| ACAD8acyl-CoA dehydrogenase family member 8 | Niet vastgelegd | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| C3complement C3 | Niet vastgelegd | In 1 aandoening |
| CASRcalcium sensing receptor | Niet vastgelegd | In 1 aandoening |
| CD46CD46 molecule | Niet vastgelegd | In 1 aandoening |
| CDIN1CDAN1 interacting nuclease 1 | Niet vastgelegd | In 1 aandoening |
| CFBcomplement factor B | Niet vastgelegd | In 1 aandoening |
| CFIcomplement factor I | Niet vastgelegd | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Niet vastgelegd | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Niet vastgelegd | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Niet vastgelegd | In 1 aandoening |
| COX15cytochrome c oxidase assembly factor COX15 | Niet vastgelegd | In 1 aandoening |
| COX6B1cytochrome c oxidase subunit 6B1 | Niet vastgelegd | In 1 aandoening |
| CPceruloplasmin | Niet vastgelegd | In 1 aandoening |
| CPOXcoproporphyrinogen oxidase | Niet vastgelegd | In 1 aandoening |
| ELANEelastase, neutrophil expressed | Niet vastgelegd | In 1 aandoening |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Niet vastgelegd | In 1 aandoening |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Niet vastgelegd | In 1 aandoening |
| FERMT3FERM domain containing kindlin 3 | Niet vastgelegd | In 1 aandoening |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Niet vastgelegd | In 1 aandoening |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Niet vastgelegd | In 1 aandoening |
| GLRX5glutaredoxin 5 | Niet vastgelegd | In 1 aandoening |
| HAMPhepcidin antimicrobial peptide | Niet vastgelegd | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Niet vastgelegd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Niet vastgelegd | In 1 aandoening |
| ITGA2Bintegrin subunit alpha 2b | Niet vastgelegd | In 1 aandoening |
| ITKIL2 inducible T cell kinase | Niet vastgelegd | In 1 aandoening |
| KIF1Bkinesin family member 1B | Niet vastgelegd | In 1 aandoening |
| LARS1leucyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| MDM4MDM4 regulator of p53 | Niet vastgelegd | In 1 aandoening |
| MMAAmetabolism of cobalamin associated A | Niet vastgelegd | In 1 aandoening |
| MMABmetabolism of cobalamin associated B | Niet vastgelegd | In 1 aandoening |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Niet vastgelegd | In 1 aandoening |
| MUC1mucin 1, cell surface associated | Niet vastgelegd | In 1 aandoening |
| NPHP1nephrocystin 1 | Niet vastgelegd | In 2 aandoeningen |
| NPHP4nephrocystin 4 | Niet vastgelegd | In 2 aandoeningen |
| PCCApropionyl-CoA carboxylase subunit alpha | Niet vastgelegd | In 1 aandoening |
| PCCBpropionyl-CoA carboxylase subunit beta | Niet vastgelegd | In 1 aandoening |
| PLECplectin | Niet vastgelegd | In 1 aandoening |
| PNPOpyridoxamine 5'-phosphate oxidase | Niet vastgelegd | In 1 aandoening |
| PSMB4proteasome 20S subunit beta 4 | Niet vastgelegd | In 1 aandoening |
| PTF1Apancreas associated transcription factor 1a | Niet vastgelegd | In 1 aandoening |
| RENrenin | Niet vastgelegd | In 1 aandoening |
| RPS27ribosomal protein S27 | Niet vastgelegd | In 1 aandoening |
| SAMD9Lsterile alpha motif domain containing 9 like | Niet vastgelegd | In 1 aandoening |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| SCO1synthesis of cytochrome C oxidase 1 | Niet vastgelegd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Niet vastgelegd | In 1 aandoening |
| SLC25A38solute carrier family 25 member 38 | Niet vastgelegd | In 1 aandoening |
| SLC40A1solute carrier family 40 member 1 | Niet vastgelegd | In 1 aandoening |
| SRP54signal recognition particle 54 | Niet vastgelegd | In 1 aandoening |
| SURF1SURF1 cytochrome c oxidase assembly factor | Niet vastgelegd | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Niet vastgelegd | In 1 aandoening |
| TBCEtubulin folding cofactor E | Niet vastgelegd | In 1 aandoening |
| TFR2transferrin receptor 2 | Niet vastgelegd | In 1 aandoening |
| THBDthrombomodulin | Niet vastgelegd | In 1 aandoening |
| THRAthyroid hormone receptor alpha | Niet vastgelegd | In 1 aandoening |
| TNFRSF11ATNF receptor superfamily member 11a | Niet vastgelegd | In 1 aandoening |
| TRNT1tRNA nucleotidyl transferase 1 | Niet vastgelegd | In 1 aandoening |
| XRCC4X-ray repair cross complementing 4 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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