Trait
Low number of red blood cells or hemoglobin
Clinical name: Anemia
A reduction in erythrocytes volume or hemoglobin concentration.
Summary
- Also called
- Anaemia, Low number of red blood cells or haemoglobin
Reference genomeGRCh38hg38
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Get my Genome Test462 genes linked to Low number of red blood cells or hemoglobin
Changes in these genes cause rare conditions in which Low number of red blood cells or hemoglobin is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Always | In 2 conditions |
| ABCG8ATP binding cassette subfamily G member 8 | Always | In 1 condition |
| ACTN4actinin alpha 4 | Always | In 1 condition |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Always | In 1 condition |
| ALDOAaldolase, fructose-bisphosphate A | Always | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Always | In 2 conditions |
| AMMECR1AMMECR nuclear protein 1 | Always | In 1 condition |
| ATP7BATPase copper transporting beta | Always | In 2 conditions |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Always | In 1 condition |
| CDK4cyclin dependent kinase 4 | Always | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Always | In 4 conditions |
| COL3A1collagen type III alpha 1 chain | Always | In 1 condition |
| CYB561cytochrome b561 | Always | In 1 condition |
| DCLRE1CDNA cross-link repair 1C | Always | In 2 conditions |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Always | In 3 conditions |
| DPP9dipeptidyl peptidase 9 | Always | In 1 condition |
| ERCC6L2ERCC excision repair 6 like 2 | Always | In 1 condition |
| EXOC3L2exocyst complex component 3 like 2 | Always | In 1 condition |
| FAAP100FA core complex associated protein 100 | Always | In 2 conditions |
| FANCCFA complementation group C | Always | In 2 conditions |
| FANCFFA complementation group F | Always | In 2 conditions |
| FANCIFA complementation group I | Always | In 2 conditions |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Always | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Always | In 1 condition |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Always | In 1 condition |
| GATA2GATA binding protein 2 | Always | In 1 condition |
| GATBglutamyl-tRNA amidotransferase subunit B | Always | In 1 condition |
| GATCglutamyl-tRNA amidotransferase subunit C | Always | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| HEATR3HEAT repeat containing 3 | Always | In 1 condition |
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Always | In 1 condition |
| IFNGinterferon gamma | Always | In 2 conditions |
| IL27RAinterleukin 27 receptor subunit alpha | Always | In 1 condition |
| IL37interleukin 37 | Always | In 1 condition |
| IRF8interferon regulatory factor 8 | Always | In 1 condition |
| ISCUiron-sulfur cluster assembly enzyme | Always | In 1 condition |
| KLF1KLF transcription factor 1 | Always | In 3 conditions |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
Show 422 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LIPAlipase A, lysosomal acid type | Always | In 2 conditions |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| LYRM7LYR motif containing 7 | Always | In 1 condition |
| LYSTlysosomal trafficking regulator | Always | In 2 conditions |
| LYZlysozyme | Always | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Always | In 2 conditions |
| MAN2B2mannosidase alpha class 2B member 2 | Always | In 1 condition |
| MARS1methionyl-tRNA synthetase 1 | Always | In 1 condition |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Always | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Always | In 1 condition |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Always | In 1 condition |
| MVKmevalonate kinase | Always | In 1 condition |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Always | In 1 condition |
| NEK8NIMA related kinase 8 | Always | In 1 condition |
| NLRC4NLR family CARD domain containing 4 | Always | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Always | In 3 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Always | In 1 condition |
| PLCG1phospholipase C gamma 1 | Always | In 1 condition |
| PLD4phospholipase D family member 4 | Always | In 1 condition |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Always | In 2 conditions |
| PRF1perforin 1 | Always | In 3 conditions |
| PROS1protein S | Always | In 1 condition |
| PSAPprosaposin | Always | In 2 conditions |
| PSKH1protein serine kinase H1 | Always | In 1 condition |
| PTCRApre T cell antigen receptor alpha | Always | In 1 condition |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Always | In 1 condition |
| RAG1recombination activating 1 | Always | In 2 conditions |
| RAG2recombination activating 2 | Always | In 2 conditions |
| RBM8ARNA binding motif protein 8A | Always | In 1 condition |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| RC3H1ring finger and CCCH-type domains 1 | Always | In 1 condition |
| RPGRIP1LRPGRIP1 like | Always | In 1 condition |
| RPL17ribosomal protein L17 | Always | In 1 condition |
| RPL27ribosomal protein L27 | Always | In 1 condition |
| RPS10ribosomal protein S10 | Always | In 1 condition |
| RPS15Aribosomal protein S15a | Always | In 1 condition |
| RPS26ribosomal protein S26 | Always | In 1 condition |
| SBDSSBDS ribosome maturation factor | Always | In 3 conditions |
| SEC61A1SEC61 translocon subunit alpha 1 | Always | In 2 conditions |
| SERPINA6serpin family A member 6 | Always | In 1 condition |
| SLC11A2solute carrier family 11 member 2 | Always | In 1 condition |
| SLC37A4solute carrier family 37 member 4 | Always | In 2 conditions |
| SLC4A2solute carrier family 4 member 2 | Always | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Always | In 2 conditions |
| SPINK5serine peptidase inhibitor Kazal type 5 | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| SRP68signal recognition particle 68 | Always | In 1 condition |
| STAT2signal transducer and activator of transcription 2 | Always | In 1 condition |
| STEAP3STEAP3 metalloreductase | Always | In 2 conditions |
| STIM1stromal interaction molecule 1 | Always | In 2 conditions |
| STX11syntaxin 11 | Always | In 2 conditions |
| STXBP2syntaxin binding protein 2 | Always | In 2 conditions |
| TBXAS1thromboxane A synthase 1 | Always | In 2 conditions |
| TCF3transcription factor 3 | Always | In 1 condition |
| TERCtelomerase RNA component | Always | In 4 conditions |
| TERTtelomerase reverse transcriptase | Always | In 5 conditions |
| THPOthrombopoietin | Always | In 1 condition |
| TNFSF11TNF superfamily member 11 | Always | In 2 conditions |
| TP53tumor protein p53 | Always | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Always | In 2 conditions |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Always | In 2 conditions |
| VPS45vacuolar protein sorting 45 homolog | Always | In 1 condition |
| ZNF808zinc finger protein 808 | Always | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Very often (80–99%) | In 2 conditions |
| AGXTalanine--glyoxylate aminotransferase | Very often (80–99%) | In 1 condition |
| AK2adenylate kinase 2 | Very often (80–99%) | In 2 conditions |
| ALAS25'-aminolevulinate synthase 2 | Very often (80–99%) | In 1 condition |
| BCL10BCL10 immune signaling adaptor | Very often (80–99%) | In 1 condition |
| BIRC3baculoviral IAP repeat containing 3 | Very often (80–99%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Very often (80–99%) | In 3 conditions |
| BRCA1BRCA1 DNA repair associated | Very often (80–99%) | In 2 conditions |
| BRCA2BRCA2 DNA repair associated | Very often (80–99%) | In 2 conditions |
| BRIP1BRCA1 interacting DNA helicase 1 | Very often (80–99%) | In 1 condition |
| CD55CD55 molecule (Cromer blood group) | Very often (80–99%) | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Very often (80–99%) | In 6 conditions |
| CTC1CST telomere replication complex component 1 | Very often (80–99%) | In 2 conditions |
| DKC1dyskerin pseudouridine synthase 1 | Very often (80–99%) | In 3 conditions |
| EFL1elongation factor like GTPase 1 | Very often (80–99%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Very often (80–99%) | In 2 conditions |
| FANCAFA complementation group A | Very often (80–99%) | In 2 conditions |
| FANCBFA complementation group B | Very often (80–99%) | In 1 condition |
| FANCD2FA complementation group D2 | Very often (80–99%) | In 2 conditions |
| FANCEFA complementation group E | Very often (80–99%) | In 2 conditions |
| FANCGFA complementation group G | Very often (80–99%) | In 2 conditions |
| FANCLFA complementation group L | Very often (80–99%) | In 2 conditions |
| FANCMFA complementation group M | Very often (80–99%) | In 1 condition |
| FOXP1forkhead box P1 | Very often (80–99%) | In 1 condition |
| GATA1GATA binding protein 1 | Very often (80–99%) | In 1 condition |
| GLAgalactosidase alpha | Very often (80–99%) | In 2 conditions |
| HBA1hemoglobin subunit alpha 1 | Very often (80–99%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Very often (80–99%) | In 1 condition |
| HBBhemoglobin subunit beta | Very often (80–99%) | In 4 conditions |
| HBDhemoglobin subunit delta | Very often (80–99%) | In 1 condition |
| HBG1hemoglobin subunit gamma 1 | Very often (80–99%) | In 2 conditions |
| HBG2hemoglobin subunit gamma 2 | Very often (80–99%) | In 2 conditions |
| IGHimmunoglobulin heavy locus | Very often (80–99%) | In 1 condition |
| KIF23kinesin family member 23 | Very often (80–99%) | In 1 condition |
| MALT1MALT1 paracaspase | Very often (80–99%) | In 1 condition |
| MMP1matrix metallopeptidase 1 | Very often (80–99%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Very often (80–99%) | In 2 conditions |
| NHP2NHP2 ribonucleoprotein | Very often (80–99%) | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Very often (80–99%) | In 1 condition |
| NPM1nucleophosmin 1 | Very often (80–99%) | In 2 conditions |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Very often (80–99%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Very often (80–99%) | In 2 conditions |
| PALB2partner and localizer of BRCA2 | Very often (80–99%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Very often (80–99%) | In 2 conditions |
| PFKMphosphofructokinase, muscle | Very often (80–99%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Very often (80–99%) | In 1 condition |
| PKLRpyruvate kinase L/R | Very often (80–99%) | In 1 condition |
| PTENphosphatase and tensin homolog | Very often (80–99%) | In 1 condition |
| PUS1pseudouridine synthase 1 | Very often (80–99%) | In 1 condition |
| RACGAP1Rac GTPase activating protein 1 | Very often (80–99%) | In 1 condition |
| RAD51RAD51 recombinase | Very often (80–99%) | In 1 condition |
| RAD51CRAD51 paralog C | Very often (80–99%) | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Very often (80–99%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Very often (80–99%) | In 2 conditions |
| SAMD9sterile alpha motif domain containing 9 | Very often (80–99%) | In 2 conditions |
| SLC35C1solute carrier family 35 member C1 | Very often (80–99%) | In 1 condition |
| SMAD4SMAD family member 4 | Very often (80–99%) | In 4 conditions |
| SNX10sorting nexin 10 | Very often (80–99%) | In 2 conditions |
| TALDO1transaldolase 1 | Very often (80–99%) | In 2 conditions |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Very often (80–99%) | In 3 conditions |
| TFtransferrin | Very often (80–99%) | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Very often (80–99%) | In 4 conditions |
| TYMSthymidylate synthetase | Very often (80–99%) | In 2 conditions |
| UMPSuridine monophosphate synthetase | Very often (80–99%) | In 1 condition |
| UNC13Dunc-13 homolog D | Very often (80–99%) | In 2 conditions |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Very often (80–99%) | In 1 condition |
| WRAP53WD repeat containing antisense to TP53 | Very often (80–99%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | Very often (80–99%) | In 1 condition |
| YARS2tyrosyl-tRNA synthetase 2 | Very often (80–99%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Very often (80–99%) | In 1 condition |
| ACVRL1activin A receptor like type 1 | Often (30–79%) | In 2 conditions |
| ALKALK receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| AMNamnion associated transmembrane protein | Often (30–79%) | In 1 condition |
| ANK1ankyrin 1 | Often (30–79%) | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 1 condition |
| C1GALT1C1C1GALT1 specific chaperone 1 | Often (30–79%) | In 1 condition |
| C1QBcomplement C1q B chain | Often (30–79%) | In 1 condition |
| CALRcalreticulin | Often (30–79%) | In 1 condition |
| CCND1cyclin D1 | Often (30–79%) | In 1 condition |
| CDCA7cell division cycle associated 7 | Often (30–79%) | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Often (30–79%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Often (30–79%) | In 1 condition |
| COA8cytochrome c oxidase assembly factor 8 | Often (30–79%) | In 1 condition |
| COL17A1collagen type XVII alpha 1 chain | Often (30–79%) | In 2 conditions |
| COPZ1coat protein complex I subunit zeta 1 | Often (30–79%) | In 1 condition |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Often (30–79%) | In 1 condition |
| DBHdopamine beta-hydroxylase | Often (30–79%) | In 1 condition |
| DNMT3BDNA methyltransferase 3 beta | Often (30–79%) | In 1 condition |
| ENGendoglin | Often (30–79%) | In 3 conditions |
| EPB42erythrocyte membrane protein band 4.2 | Often (30–79%) | In 1 condition |
| EPHB4EPH receptor B4 | Often (30–79%) | In 1 condition |
| FAHfumarylacetoacetate hydrolase | Often (30–79%) | In 1 condition |
| FAM111AFAM111 trypsin like peptidase A | Often (30–79%) | In 2 conditions |
| FDXRferredoxin reductase | Often (30–79%) | In 1 condition |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Often (30–79%) | In 1 condition |
| FOCADfocadhesin | Often (30–79%) | In 1 condition |
| FOXP3forkhead box P3 | Often (30–79%) | In 1 condition |
| GALEUDP-galactose-4-epimerase | Often (30–79%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Often (30–79%) | In 8 conditions |
| GDF2growth differentiation factor 2 | Often (30–79%) | In 1 condition |
| GNA14G protein subunit alpha 14 | Often (30–79%) | In 1 condition |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| HELLShelicase, lymphoid specific | Often (30–79%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Often (30–79%) | In 3 conditions |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 2 conditions |
| HMBShydroxymethylbilane synthase | Often (30–79%) | In 1 condition |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Often (30–79%) | In 2 conditions |
| HMOX1heme oxygenase 1 | Often (30–79%) | In 1 condition |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Often (30–79%) | In 1 condition |
| IL12Binterleukin 12B | Often (30–79%) | In 1 condition |
| IRF1interferon regulatory factor 1 | Often (30–79%) | In 1 condition |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Often (30–79%) | In 1 condition |
| ITGB4integrin subunit beta 4 | Often (30–79%) | In 1 condition |
| JAK2Janus kinase 2 | Often (30–79%) | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| KRT14keratin 14 | Often (30–79%) | In 1 condition |
| KRT5keratin 5 | Often (30–79%) | In 1 condition |
| LAMA3laminin subunit alpha 3 | Often (30–79%) | In 2 conditions |
| LAMB3laminin subunit beta 3 | Often (30–79%) | In 2 conditions |
| LAMC2laminin subunit gamma 2 | Often (30–79%) | In 2 conditions |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Often (30–79%) | In 1 condition |
| LMO1LIM domain only 1 | Often (30–79%) | In 1 condition |
| MECOMMDS1 and EVI1 complex locus | Often (30–79%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Often (30–79%) | In 2 conditions |
| MLXMAX dimerization protein MLX | Often (30–79%) | In 1 condition |
| MPLMPL proto-oncogene, thrombopoietin receptor | Often (30–79%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Often (30–79%) | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Often (30–79%) | In 1 condition |
| NABP1nucleic acid binding protein 1 | Often (30–79%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Often (30–79%) | In 1 condition |
| NCAPG2non-SMC condensin II complex subunit G2 | Often (30–79%) | In 1 condition |
| NHEJ1non-homologous end joining factor 1 | Often (30–79%) | In 2 conditions |
| NUMA1nuclear mitotic apparatus protein 1 | Often (30–79%) | In 1 condition |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Often (30–79%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Often (30–79%) | In 1 condition |
| PEPDpeptidase D | Often (30–79%) | In 1 condition |
| PHOX2Bpaired like homeobox 2B | Often (30–79%) | In 1 condition |
| PMLPML nuclear body scaffold | Often (30–79%) | In 1 condition |
| PRIM1DNA primase subunit 1 | Often (30–79%) | In 1 condition |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Often (30–79%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Often (30–79%) | In 2 conditions |
| RAP1BRAP1B, member of RAS oncogene family | Often (30–79%) | In 1 condition |
| RARAretinoic acid receptor alpha | Often (30–79%) | In 1 condition |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Often (30–79%) | In 1 condition |
| RECQLRecQ like helicase | Often (30–79%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Often (30–79%) | In 3 conditions |
| RNF31ring finger protein 31 | Often (30–79%) | In 1 condition |
| SASH3SAM and SH3 domain containing 3 | Often (30–79%) | In 1 condition |
| SCARB2scavenger receptor class B member 2 | Often (30–79%) | In 1 condition |
| SHPKsedoheptulokinase | Often (30–79%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Often (30–79%) | In 1 condition |
| SLC7A7solute carrier family 7 member 7 | Often (30–79%) | In 2 conditions |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Often (30–79%) | In 2 conditions |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Often (30–79%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Often (30–79%) | In 3 conditions |
| SPTA1spectrin alpha, erythrocytic 1 | Often (30–79%) | In 1 condition |
| SPTBspectrin beta, erythrocytic | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| STAT5Bsignal transducer and activator of transcription 5B | Often (30–79%) | In 1 condition |
| STING1stimulator of interferon response cGAMP interactor 1 | Often (30–79%) | In 1 condition |
| SYKspleen associated tyrosine kinase | Often (30–79%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 1 condition |
| TCN2transcobalamin 2 | Often (30–79%) | In 1 condition |
| TET2tet methylcytosine dioxygenase 2 | Often (30–79%) | In 2 conditions |
| TFRCtransferrin receptor | Often (30–79%) | In 1 condition |
| TMEM63Btransmembrane protein 63B | Often (30–79%) | In 1 condition |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Often (30–79%) | In 1 condition |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Often (30–79%) | In 1 condition |
| WASWASP actin nucleation promoting factor | Often (30–79%) | In 1 condition |
| YARS1tyrosyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ZBTB16zinc finger and BTB domain containing 16 | Often (30–79%) | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | Often (30–79%) | In 1 condition |
| ZNF699zinc finger protein 699 | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ABCA1ATP binding cassette subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| ADAadenosine deaminase | Sometimes (5–29%) | In 1 condition |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | In 1 condition |
| ALX4ALX homeobox 4 | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| ANKRD55ankyrin repeat domain 55 | Sometimes (5–29%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 1 condition |
| BTKBruton tyrosine kinase | Sometimes (5–29%) | In 2 conditions |
| BTNL2butyrophilin like 2 | Sometimes (5–29%) | In 1 condition |
| CA2carbonic anhydrase 2 | Sometimes (5–29%) | In 2 conditions |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CBLCbl proto-oncogene | Sometimes (5–29%) | In 1 condition |
| CD247CD247 molecule | Sometimes (5–29%) | In 1 condition |
| CD4CD4 molecule | Sometimes (5–29%) | In 1 condition |
| CDC40cell division cycle 40 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
| CISD2CDGSH iron sulfur domain 2 | Sometimes (5–29%) | In 1 condition |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DCDC2doublecortin domain containing 2 | Sometimes (5–29%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 1 condition |
| ETV6ETS variant transcription factor 6 | Sometimes (5–29%) | In 1 condition |
| EWSR1EWS RNA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| F2coagulation factor II, thrombin | Sometimes (5–29%) | In 1 condition |
| F8coagulation factor VIII | Sometimes (5–29%) | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| FERMT1FERM domain containing kindlin 1 | Sometimes (5–29%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| FTCDformimidoyltransferase cyclodeaminase | Sometimes (5–29%) | In 1 condition |
| GPC3glypican 3 | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Sometimes (5–29%) | In 1 condition |
| HPGD15-hydroxyprostaglandin dehydrogenase | Sometimes (5–29%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Sometimes (5–29%) | In 1 condition |
| IKZF1IKAROS family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| IL2RAinterleukin 2 receptor subunit alpha | Sometimes (5–29%) | In 1 condition |
| IL2RBinterleukin 2 receptor subunit beta | Sometimes (5–29%) | In 1 condition |
| IL2RGinterleukin 2 receptor subunit gamma | Sometimes (5–29%) | In 1 condition |
| IL7Rinterleukin 7 receptor | Sometimes (5–29%) | In 1 condition |
| IRF4interferon regulatory factor 4 | Sometimes (5–29%) | In 1 condition |
| KIF15kinesin family member 15 | Sometimes (5–29%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| LIG3DNA ligase 3 | Sometimes (5–29%) | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| MMUTmethylmalonyl-CoA mutase | Sometimes (5–29%) | In 2 conditions |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sometimes (5–29%) | In 1 condition |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sometimes (5–29%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sometimes (5–29%) | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Sometimes (5–29%) | In 2 conditions |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Sometimes (5–29%) | In 1 condition |
| NOD2nucleotide binding oligomerization domain containing 2 | Sometimes (5–29%) | In 1 condition |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Sometimes (5–29%) | In 1 condition |
| NUDCD3NudC domain containing 3 | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 1 condition |
| PAX2paired box 2 | Sometimes (5–29%) | In 1 condition |
| PBX1PBX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| PCNTpericentrin | Sometimes (5–29%) | In 1 condition |
| PDGFRAplatelet derived growth factor receptor alpha | Sometimes (5–29%) | In 1 condition |
| PHF21APHD finger protein 21A | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| POU6F2POU class 6 homeobox 2 | Sometimes (5–29%) | In 1 condition |
| PSMB10proteasome 20S subunit beta 10 | Sometimes (5–29%) | In 1 condition |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Sometimes (5–29%) | In 1 condition |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Sometimes (5–29%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| RESTRE1 silencing transcription factor | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 1 condition |
| RUNX1RUNX family transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sometimes (5–29%) | In 2 conditions |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sometimes (5–29%) | In 2 conditions |
| SDHCsuccinate dehydrogenase complex subunit C | Sometimes (5–29%) | In 2 conditions |
| SLC25A13solute carrier family 25 member 13 | Sometimes (5–29%) | In 1 condition |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Sometimes (5–29%) | In 1 condition |
| SLF2SMC5/6 complex localization factor 2 | Sometimes (5–29%) | In 1 condition |
| SMC5structural maintenance of chromosomes 5 | Sometimes (5–29%) | In 1 condition |
| SP110SP110 nuclear body protein | Sometimes (5–29%) | In 1 condition |
| SRSF2serine and arginine rich splicing factor 2 | Sometimes (5–29%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Sometimes (5–29%) | In 1 condition |
| STK11serine/threonine kinase 11 | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| TGFB1transforming growth factor beta 1 | Sometimes (5–29%) | In 2 conditions |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 2 conditions |
| TRIM28tripartite motif containing 28 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| TTRtransthyretin | Sometimes (5–29%) | In 1 condition |
| TYMPthymidine phosphorylase | Sometimes (5–29%) | In 1 condition |
| UNC45Aunc-45 myosin chaperone A | Sometimes (5–29%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Sometimes (5–29%) | In 1 condition |
| WT1WT1 transcription factor | Sometimes (5–29%) | In 2 conditions |
| ACVR1activin A receptor type 1 | Rarely (1–4%) | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Rarely (1–4%) | In 1 condition |
| HAVCR2hepatitis A virus cellular receptor 2 | Rarely (1–4%) | In 1 condition |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Rarely (1–4%) | In 1 condition |
| PHKBphosphorylase kinase regulatory subunit beta | Rarely (1–4%) | In 1 condition |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Rarely (1–4%) | In 1 condition |
| PPOXprotoporphyrinogen oxidase | Rarely (1–4%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Not recorded | In 1 condition |
| ACAD8acyl-CoA dehydrogenase family member 8 | Not recorded | In 1 condition |
| ALPLalkaline phosphatase, biomineralization associated | Not recorded | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| C3complement C3 | Not recorded | In 1 condition |
| CASRcalcium sensing receptor | Not recorded | In 1 condition |
| CD46CD46 molecule | Not recorded | In 1 condition |
| CDIN1CDAN1 interacting nuclease 1 | Not recorded | In 1 condition |
| CFBcomplement factor B | Not recorded | In 1 condition |
| CFIcomplement factor I | Not recorded | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Not recorded | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Not recorded | In 1 condition |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Not recorded | In 1 condition |
| COX15cytochrome c oxidase assembly factor COX15 | Not recorded | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Not recorded | In 1 condition |
| CPceruloplasmin | Not recorded | In 1 condition |
| CPOXcoproporphyrinogen oxidase | Not recorded | In 1 condition |
| ELANEelastase, neutrophil expressed | Not recorded | In 1 condition |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Not recorded | In 1 condition |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Not recorded | In 1 condition |
| FERMT3FERM domain containing kindlin 3 | Not recorded | In 1 condition |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Not recorded | In 1 condition |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Not recorded | In 1 condition |
| GLRX5glutaredoxin 5 | Not recorded | In 1 condition |
| HAMPhepcidin antimicrobial peptide | Not recorded | In 1 condition |
| IFNGR1interferon gamma receptor 1 | Not recorded | In 1 condition |
| IFT140intraflagellar transport 140 | Not recorded | In 1 condition |
| ITGA2Bintegrin subunit alpha 2b | Not recorded | In 1 condition |
| ITKIL2 inducible T cell kinase | Not recorded | In 1 condition |
| KIF1Bkinesin family member 1B | Not recorded | In 1 condition |
| LARS1leucyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| MDM4MDM4 regulator of p53 | Not recorded | In 1 condition |
| MMAAmetabolism of cobalamin associated A | Not recorded | In 1 condition |
| MMABmetabolism of cobalamin associated B | Not recorded | In 1 condition |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Not recorded | In 1 condition |
| MUC1mucin 1, cell surface associated | Not recorded | In 1 condition |
| NPHP1nephrocystin 1 | Not recorded | In 2 conditions |
| NPHP4nephrocystin 4 | Not recorded | In 2 conditions |
| PCCApropionyl-CoA carboxylase subunit alpha | Not recorded | In 1 condition |
| PCCBpropionyl-CoA carboxylase subunit beta | Not recorded | In 1 condition |
| PLECplectin | Not recorded | In 1 condition |
| PNPOpyridoxamine 5'-phosphate oxidase | Not recorded | In 1 condition |
| PSMB4proteasome 20S subunit beta 4 | Not recorded | In 1 condition |
| PTF1Apancreas associated transcription factor 1a | Not recorded | In 1 condition |
| RENrenin | Not recorded | In 1 condition |
| RPS27ribosomal protein S27 | Not recorded | In 1 condition |
| SAMD9Lsterile alpha motif domain containing 9 like | Not recorded | In 1 condition |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| SCO1synthesis of cytochrome C oxidase 1 | Not recorded | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Not recorded | In 1 condition |
| SLC25A38solute carrier family 25 member 38 | Not recorded | In 1 condition |
| SLC40A1solute carrier family 40 member 1 | Not recorded | In 1 condition |
| SRP54signal recognition particle 54 | Not recorded | In 1 condition |
| SURF1SURF1 cytochrome c oxidase assembly factor | Not recorded | In 1 condition |
| TACO1translational activator of cytochrome c oxidase I | Not recorded | In 1 condition |
| TBCEtubulin folding cofactor E | Not recorded | In 1 condition |
| TFR2transferrin receptor 2 | Not recorded | In 1 condition |
| THBDthrombomodulin | Not recorded | In 1 condition |
| THRAthyroid hormone receptor alpha | Not recorded | In 1 condition |
| TNFRSF11ATNF receptor superfamily member 11a | Not recorded | In 1 condition |
| TRNT1tRNA nucleotidyl transferase 1 | Not recorded | In 1 condition |
| XRCC4X-ray repair cross complementing 4 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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