Trait
Low platelet count
Clinical name: Thrombocytopenia
A reduction in the number of circulating thrombocytes.
Summary
Reference genomeGRCh38hg38
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Get my Genome Test394 genes linked to Low platelet count
Changes in these genes cause rare conditions in which Low platelet count 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 |
|---|---|---|
| ABCG8ATP binding cassette subfamily G member 8 | Always | In 1 condition |
| ACTBactin beta | Always | In 1 condition |
| ACTN1actinin alpha 1 | Always | In 2 conditions |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Always | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Always | In 2 conditions |
| ANKRD26ankyrin repeat domain 26 | Always | In 1 condition |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| APOA1apolipoprotein A1 | Always | In 1 condition |
| APOEapolipoprotein E | Always | In 1 condition |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Always | In 1 condition |
| BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6 | Always | In 1 condition |
| C1GALT1C1C1GALT1 specific chaperone 1 | Always | In 1 condition |
| CD46CD46 molecule | Always | In 2 conditions |
| CFHcomplement factor H | Always | In 2 conditions |
| CFIcomplement factor I | Always | In 2 conditions |
| CLCN7Cl-/H+ antiporter 7 | Always | In 3 conditions |
| COG6component of oligomeric golgi complex 6 | Always | In 1 condition |
| COPZ1coat protein complex I subunit zeta 1 | Always | In 1 condition |
| CYCScytochrome c, somatic | Always | In 1 condition |
| DIAPH1diaphanous related formin 1 | Always | In 2 conditions |
| EFL1elongation factor like GTPase 1 | Always | In 2 conditions |
| ERCC6L2ERCC excision repair 6 like 2 | Always | In 1 condition |
| ETV6ETS variant transcription factor 6 | 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 |
| FRYLFRY like transcription coactivator | Always | In 1 condition |
| FYB1FYN binding protein 1 | Always | In 1 condition |
| GALEUDP-galactose-4-epimerase | Always | In 1 condition |
| GATA1GATA binding protein 1 | Always | In 4 conditions |
| GBA1glucosylceramidase beta 1 | Always | In 9 conditions |
| GCSHglycine cleavage system protein H | Always | In 1 condition |
| GFI1Bgrowth factor independent 1B transcriptional repressor | Always | In 2 conditions |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Always | In 1 condition |
| GP1BAglycoprotein Ib platelet subunit alpha | Always | In 3 conditions |
| GP1BBglycoprotein Ib platelet subunit beta | Always | In 3 conditions |
| GP9glycoprotein IX platelet | Always | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| HELLPARHELLP associated long non-coding RNA | Always | In 1 condition |
Show 354 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Always | In 1 condition |
| IKZF5IKAROS family zinc finger 5 | Always | In 1 condition |
| IRF8interferon regulatory factor 8 | Always | In 1 condition |
| ITGA2Bintegrin subunit alpha 2b | Always | In 2 conditions |
| ITGB3integrin subunit beta 3 | Always | In 2 conditions |
| KIF15kinesin family member 15 | Always | In 2 conditions |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| LIPAlipase A, lysosomal acid type | Always | In 1 condition |
| LRBALPS responsive beige-like anchor protein | Always | In 1 condition |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Always | In 2 conditions |
| MAN2B2mannosidase alpha class 2B member 2 | Always | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Always | In 1 condition |
| MMUTmethylmalonyl-CoA mutase | Always | In 3 conditions |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Always | In 1 condition |
| MYH9myosin heavy chain 9 | Always | In 1 condition |
| NLRC4NLR family CARD domain containing 4 | Always | In 1 condition |
| OTULINOTU deubiquitinase with linear linkage specificity | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 3 conditions |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Always | In 1 condition |
| PLD4phospholipase D family member 4 | Always | In 1 condition |
| POMPproteasome maturation protein | Always | In 1 condition |
| POT1protection of telomeres 1 | Always | In 1 condition |
| PRF1perforin 1 | Always | In 3 conditions |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Always | In 1 condition |
| PSAPprosaposin | Always | In 2 conditions |
| PTCRApre T cell antigen receptor alpha | Always | In 1 condition |
| PTPRJprotein tyrosine phosphatase receptor type J | Always | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Always | In 1 condition |
| RC3H1ring finger and CCCH-type domains 1 | Always | In 1 condition |
| RUNX1RUNX family transcription factor 1 | Always | In 3 conditions |
| SAMD9sterile alpha motif domain containing 9 | Always | In 2 conditions |
| SEC61A1SEC61 translocon subunit alpha 1 | Always | In 1 condition |
| SLC19A1solute carrier family 19 member 1 | Always | In 1 condition |
| SLC37A4solute carrier family 37 member 4 | Always | In 1 condition |
| SLFN14schlafen family member 14 | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| SRP68signal recognition particle 68 | Always | In 1 condition |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Always | In 2 conditions |
| STXBP2syntaxin binding protein 2 | Always | In 2 conditions |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Always | In 1 condition |
| THPOthrombopoietin | Always | In 2 conditions |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Always | In 2 conditions |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Always | In 1 condition |
| VPS45vacuolar protein sorting 45 homolog | Always | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| WASWASP actin nucleation promoting factor | Always | In 2 conditions |
| WIPF1WAS/WASL interacting protein family member 1 | Always | In 1 condition |
| ZFPM2zinc finger protein, FOG family member 2 | Always | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Very often (80–99%) | In 2 conditions |
| ATP7BATPase copper transporting beta | Very often (80–99%) | In 2 conditions |
| ATRXATRX chromatin remodeler | Very often (80–99%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Very often (80–99%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Very often (80–99%) | In 1 condition |
| BRIP1BRCA1 interacting DNA helicase 1 | Very often (80–99%) | In 1 condition |
| CTC1CST telomere replication complex component 1 | Very often (80–99%) | In 2 conditions |
| DKC1dyskerin pseudouridine synthase 1 | Very often (80–99%) | In 3 conditions |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Very often (80–99%) | In 1 condition |
| FANCAFA complementation group A | Very often (80–99%) | In 2 conditions |
| FANCBFA complementation group B | Very often (80–99%) | In 2 conditions |
| 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 |
| FANCIFA complementation group I | Very often (80–99%) | In 2 conditions |
| FANCLFA complementation group L | Very often (80–99%) | In 1 condition |
| FANCMFA complementation group M | Very often (80–99%) | In 1 condition |
| FCGR2CFc gamma receptor IIc (gene/pseudogene) | Very often (80–99%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Very often (80–99%) | In 2 conditions |
| GATA2GATA binding protein 2 | Very often (80–99%) | In 1 condition |
| GIMAP5GTPase, IMAP family member 5 | Very often (80–99%) | In 1 condition |
| NBEAL2neurobeachin like 2 | Very often (80–99%) | In 2 conditions |
| NBNnibrin | Very often (80–99%) | In 2 conditions |
| NHEJ1non-homologous end joining factor 1 | Very often (80–99%) | In 2 conditions |
| NHP2NHP2 ribonucleoprotein | Very often (80–99%) | In 3 conditions |
| NOP10NOP10 ribonucleoprotein | Very often (80–99%) | In 2 conditions |
| NPM1nucleophosmin 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 |
| PRIM1DNA primase subunit 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 |
| RBM8ARNA binding motif protein 8A | Very often (80–99%) | In 2 conditions |
| 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 |
| SLC35A1solute carrier family 35 member A1 | Very often (80–99%) | In 2 conditions |
| SLX4SLX4 structure-specific endonuclease subunit | Very often (80–99%) | In 1 condition |
| STIM1stromal interaction molecule 1 | Very often (80–99%) | In 1 condition |
| STX11syntaxin 11 | Very often (80–99%) | In 2 conditions |
| TALDO1transaldolase 1 | Very often (80–99%) | In 2 conditions |
| TERCtelomerase RNA component | Very often (80–99%) | In 4 conditions |
| TERTtelomerase reverse transcriptase | Very often (80–99%) | In 5 conditions |
| TINF2TERF1 interacting nuclear factor 2 | Very often (80–99%) | In 4 conditions |
| TLR8toll like receptor 8 | Very often (80–99%) | In 1 condition |
| TPM4tropomyosin 4 | Very often (80–99%) | In 2 conditions |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Very often (80–99%) | In 1 condition |
| TUBA8tubulin alpha 8 | Very often (80–99%) | In 1 condition |
| TUBB1tubulin beta 1 class VI | Very often (80–99%) | In 1 condition |
| TYMSthymidylate synthetase | Very often (80–99%) | In 1 condition |
| UNC13Dunc-13 homolog D | Very often (80–99%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Very often (80–99%) | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Very often (80–99%) | In 2 conditions |
| 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 |
| ABCD4ATP binding cassette subfamily D member 4 | Often (30–79%) | In 1 condition |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| ACAD9acyl-CoA dehydrogenase family member 9 | Often (30–79%) | In 2 conditions |
| AGKacylglycerol kinase | Often (30–79%) | In 1 condition |
| AK2adenylate kinase 2 | Often (30–79%) | In 1 condition |
| ALKALK receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| ARPC1Bactin related protein 2/3 complex subunit 1B | Often (30–79%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 2 conditions |
| BCORBCL6 corepressor | Often (30–79%) | In 1 condition |
| BCRBCR activator of RhoGEF and GTPase | Often (30–79%) | In 1 condition |
| BTNL2butyrophilin like 2 | Often (30–79%) | In 1 condition |
| CALRcalreticulin | Often (30–79%) | In 1 condition |
| CDC42cell division cycle 42 | Often (30–79%) | In 2 conditions |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Often (30–79%) | In 1 condition |
| DEF6DEF6 guanine nucleotide exchange factor | Often (30–79%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Often (30–79%) | In 3 conditions |
| EPHB2EPH receptor B2 | Often (30–79%) | In 1 condition |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Often (30–79%) | In 1 condition |
| GNA14G protein subunit alpha 14 | Often (30–79%) | In 2 conditions |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 2 conditions |
| IFIH1interferon induced with helicase C domain 1 | Often (30–79%) | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Often (30–79%) | In 1 condition |
| IRAK1interleukin 1 receptor associated kinase 1 | Often (30–79%) | In 2 conditions |
| IRF1interferon regulatory factor 1 | Often (30–79%) | In 1 condition |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Often (30–79%) | In 1 condition |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Often (30–79%) | In 1 condition |
| JAK2Janus kinase 2 | Often (30–79%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Often (30–79%) | In 1 condition |
| LMO1LIM domain only 1 | Often (30–79%) | In 1 condition |
| MADDMAP kinase activating death domain | Often (30–79%) | In 2 conditions |
| MMACHCmetabolism of cobalamin associated C | Often (30–79%) | In 2 conditions |
| MPLMPL proto-oncogene, thrombopoietin receptor | Often (30–79%) | In 2 conditions |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Often (30–79%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Often (30–79%) | In 2 conditions |
| NABP1nucleic acid binding protein 1 | Often (30–79%) | In 1 condition |
| NUMA1nuclear mitotic apparatus protein 1 | Often (30–79%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | 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 |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 1 condition |
| RARAretinoic acid receptor alpha | Often (30–79%) | In 1 condition |
| RBSNrabenosyn, RAB effector | Often (30–79%) | In 1 condition |
| RECQLRecQ like helicase | Often (30–79%) | In 1 condition |
| RPL17ribosomal protein L17 | Often (30–79%) | In 1 condition |
| RPS19ribosomal protein S19 | Often (30–79%) | In 2 conditions |
| SALL4spalt like transcription factor 4 | Often (30–79%) | In 2 conditions |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Often (30–79%) | In 1 condition |
| SBDSSBDS ribosome maturation factor | Often (30–79%) | In 3 conditions |
| SC5Dsterol-C5-desaturase | Often (30–79%) | In 1 condition |
| SCARB2scavenger receptor class B member 2 | Often (30–79%) | In 2 conditions |
| SLC19A2solute carrier family 19 member 2 | Often (30–79%) | In 2 conditions |
| SLC39A7solute carrier family 39 member 7 | 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 |
| SMPD1sphingomyelin phosphodiesterase 1 | Often (30–79%) | In 3 conditions |
| SNX10sorting nexin 10 | Often (30–79%) | In 1 condition |
| SPP1secreted phosphoprotein 1 | Often (30–79%) | In 2 conditions |
| SRSF2serine and arginine rich splicing factor 2 | Often (30–79%) | In 2 conditions |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Often (30–79%) | In 2 conditions |
| STAT5Bsignal transducer and activator of transcription 5B | Often (30–79%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 1 condition |
| TBXAS1thromboxane A synthase 1 | Often (30–79%) | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Often (30–79%) | In 2 conditions |
| TCN2transcobalamin 2 | Often (30–79%) | In 1 condition |
| TET2tet methylcytosine dioxygenase 2 | Often (30–79%) | In 5 conditions |
| TLR7toll like receptor 7 | Often (30–79%) | In 2 conditions |
| TMEM165transmembrane protein 165 | Often (30–79%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Often (30–79%) | In 3 conditions |
| UROSuroporphyrinogen III synthase | Often (30–79%) | In 2 conditions |
| USP18ubiquitin specific peptidase 18 | Often (30–79%) | In 1 condition |
| ZBTB16zinc finger and BTB domain containing 16 | Often (30–79%) | In 1 condition |
| ZNFX1zinc finger NFX1-type containing 1 | Often (30–79%) | In 1 condition |
| ABCA1ATP binding cassette subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Sometimes (5–29%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Sometimes (5–29%) | In 2 conditions |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| AMNamnion associated transmembrane protein | Sometimes (5–29%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Sometimes (5–29%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Sometimes (5–29%) | In 1 condition |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| BTKBruton tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| C4Acomplement C4A (Chido/Rodgers blood group) | Sometimes (5–29%) | In 1 condition |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Sometimes (5–29%) | In 1 condition |
| CA2carbonic anhydrase 2 | Sometimes (5–29%) | In 1 condition |
| CBLCbl proto-oncogene | Sometimes (5–29%) | In 1 condition |
| CDC40cell division cycle 40 | Sometimes (5–29%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Sometimes (5–29%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| CR2complement C3d receptor 2 | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Sometimes (5–29%) | In 1 condition |
| CUBNcubilin | Sometimes (5–29%) | In 1 condition |
| DGKEdiacylglycerol kinase epsilon | Sometimes (5–29%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Sometimes (5–29%) | In 1 condition |
| DNASE1deoxyribonuclease 1 | Sometimes (5–29%) | In 2 conditions |
| DOCK2dedicator of cytokinesis 2 | Sometimes (5–29%) | In 1 condition |
| DOCK6dedicator of cytokinesis 6 | Sometimes (5–29%) | In 1 condition |
| DZIP1LDAZ interacting zinc finger protein 1 like | Sometimes (5–29%) | In 1 condition |
| ELANEelastase, neutrophil expressed | Sometimes (5–29%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Sometimes (5–29%) | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| ETS1ETS proto-oncogene 1, transcription factor | Sometimes (5–29%) | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| FCGR2BFc gamma receptor IIb | Sometimes (5–29%) | In 2 conditions |
| FCGR3BFc gamma receptor IIIb | Sometimes (5–29%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| FOXP3forkhead box P3 | Sometimes (5–29%) | In 1 condition |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Sometimes (5–29%) | In 2 conditions |
| HEATR3HEAT repeat containing 3 | Sometimes (5–29%) | In 2 conditions |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Sometimes (5–29%) | In 1 condition |
| HLCSholocarboxylase synthetase | Sometimes (5–29%) | In 2 conditions |
| IFNGinterferon gamma | Sometimes (5–29%) | In 1 condition |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Sometimes (5–29%) | In 1 condition |
| IKZF1IKAROS family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| IL10interleukin 10 | Sometimes (5–29%) | In 1 condition |
| IRF5interferon regulatory factor 5 | Sometimes (5–29%) | In 1 condition |
| ITGAMintegrin subunit alpha M | Sometimes (5–29%) | In 1 condition |
| JAZF1JAZF zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| KIAA0319LKIAA0319 like | Sometimes (5–29%) | In 1 condition |
| LBRlamin B receptor | Sometimes (5–29%) | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| LYSTlysosomal trafficking regulator | Sometimes (5–29%) | In 2 conditions |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sometimes (5–29%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| MOGSmannosyl-oligosaccharide glucosidase | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Sometimes (5–29%) | In 1 condition |
| NFKB1nuclear factor kappa B subunit 1 | Sometimes (5–29%) | In 1 condition |
| NOTCH1notch receptor 1 | Sometimes (5–29%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| OTUD5OTU deubiquitinase 5 | Sometimes (5–29%) | In 1 condition |
| PDCD1programmed cell death 1 | Sometimes (5–29%) | In 1 condition |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sometimes (5–29%) | In 1 condition |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| PPIL1peptidylprolyl isomerase like 1 | Sometimes (5–29%) | In 1 condition |
| PSMB8proteasome 20S subunit beta 8 | Sometimes (5–29%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sometimes (5–29%) | In 1 condition |
| PXKPX domain containing serine/threonine kinase like | Sometimes (5–29%) | In 1 condition |
| RAG1recombination activating 1 | Sometimes (5–29%) | In 2 conditions |
| RAG2recombination activating 2 | Sometimes (5–29%) | In 2 conditions |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Sometimes (5–29%) | In 1 condition |
| RRAS2RAS related 2 | Sometimes (5–29%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| RRP12ribosomal RNA processing 12 homolog | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SF3B1splicing factor 3b subunit 1 | Sometimes (5–29%) | In 1 condition |
| SLC46A1solute carrier family 46 member 1 | Sometimes (5–29%) | In 2 conditions |
| SLF2SMC5/6 complex localization factor 2 | Sometimes (5–29%) | In 1 condition |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Sometimes (5–29%) | In 1 condition |
| SMC5structural maintenance of chromosomes 5 | Sometimes (5–29%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Sometimes (5–29%) | In 1 condition |
| SP110SP110 nuclear body protein | Sometimes (5–29%) | In 1 condition |
| STAT1signal transducer and activator of transcription 1 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 2 conditions |
| TNFAIP3TNF alpha induced protein 3 | Sometimes (5–29%) | In 2 conditions |
| TNFSF4TNF superfamily member 4 | Sometimes (5–29%) | In 1 condition |
| TNIP1TNFAIP3 interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Sometimes (5–29%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| VPS33BVPS33B late endosome and lysosome associated | Sometimes (5–29%) | In 1 condition |
| ADA2adenosine deaminase 2 | Rarely (1–4%) | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Rarely (1–4%) | In 1 condition |
| CORINcorin, serine peptidase | Rarely (1–4%) | In 1 condition |
| FLT1fms related receptor tyrosine kinase 1 | Rarely (1–4%) | In 1 condition |
| RPL11ribosomal protein L11 | Rarely (1–4%) | In 1 condition |
| RPL15ribosomal protein L15 | Rarely (1–4%) | In 1 condition |
| RPL18ribosomal protein L18 | Rarely (1–4%) | In 1 condition |
| RPL26ribosomal protein L26 | Rarely (1–4%) | In 1 condition |
| RPL27ribosomal protein L27 | Rarely (1–4%) | In 1 condition |
| RPL31ribosomal protein L31 | Rarely (1–4%) | In 1 condition |
| RPL35ribosomal protein L35 | Rarely (1–4%) | In 1 condition |
| RPL35Aribosomal protein L35a | Rarely (1–4%) | In 1 condition |
| RPL5ribosomal protein L5 | Rarely (1–4%) | In 1 condition |
| RPL8ribosomal protein L8 | Rarely (1–4%) | In 1 condition |
| RPL9ribosomal protein L9 | Rarely (1–4%) | In 1 condition |
| RPS10ribosomal protein S10 | Rarely (1–4%) | In 1 condition |
| RPS15Aribosomal protein S15a | Rarely (1–4%) | In 1 condition |
| RPS17ribosomal protein S17 | Rarely (1–4%) | In 1 condition |
| RPS20ribosomal protein S20 | Rarely (1–4%) | In 1 condition |
| RPS24ribosomal protein S24 | Rarely (1–4%) | In 1 condition |
| RPS26ribosomal protein S26 | Rarely (1–4%) | In 1 condition |
| RPS27ribosomal protein S27 | Rarely (1–4%) | In 1 condition |
| RPS28ribosomal protein S28 | Rarely (1–4%) | In 1 condition |
| RPS29ribosomal protein S29 | Rarely (1–4%) | In 1 condition |
| RPS7ribosomal protein S7 | Rarely (1–4%) | In 1 condition |
| RYR1ryanodine receptor 1 | Rarely (1–4%) | In 1 condition |
| STOX1storkhead box 1 | Rarely (1–4%) | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Rarely (1–4%) | In 1 condition |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Not recorded | In 1 condition |
| C3complement C3 | Not recorded | In 1 condition |
| CASP10caspase 10 | Not recorded | In 1 condition |
| CD36CD36 molecule (CD36 blood group) | Not recorded | In 1 condition |
| CD40LGCD40 ligand | Not recorded | In 1 condition |
| CFBcomplement factor B | Not recorded | In 1 condition |
| CFHR1complement factor H related 1 | Not recorded | In 1 condition |
| CFHR3complement factor H related 3 | Not recorded | In 1 condition |
| COL4A3collagen type IV alpha 3 chain | Not recorded | In 1 condition |
| COL4A4collagen type IV alpha 4 chain | Not recorded | In 1 condition |
| COL4A5collagen type IV alpha 5 chain | Not recorded | In 1 condition |
| DCLRE1CDNA cross-link repair 1C | Not recorded | In 1 condition |
| DGUOKdeoxyguanosine kinase | Not recorded | In 1 condition |
| DHFRdihydrofolate reductase | Not recorded | In 1 condition |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Not recorded | In 1 condition |
| FCGR2AFc gamma receptor IIa | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Not recorded | In 1 condition |
| ITKIL2 inducible T cell kinase | Not recorded | In 1 condition |
| IVDisovaleryl-CoA dehydrogenase | Not recorded | In 1 condition |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| LIG4DNA ligase 4 | Not recorded | In 1 condition |
| MECOMMDS1 and EVI1 complex locus | 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 |
| MTORmechanistic target of rapamycin kinase | Not recorded | In 1 condition |
| MVKmevalonate kinase | Not recorded | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Not recorded | In 1 condition |
| OCLNoccludin | Not recorded | In 1 condition |
| PCCApropionyl-CoA carboxylase subunit alpha | Not recorded | In 1 condition |
| PCCBpropionyl-CoA carboxylase subunit beta | Not recorded | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Not recorded | In 1 condition |
| PLAUplasminogen activator, urokinase | Not recorded | In 1 condition |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | Not recorded | In 1 condition |
| PSMB4proteasome 20S subunit beta 4 | Not recorded | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Not recorded | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Not recorded | In 1 condition |
| SAMD9Lsterile alpha motif domain containing 9 like | Not recorded | In 2 conditions |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Not recorded | In 1 condition |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| SH2D1ASH2 domain containing 1A | Not recorded | In 1 condition |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Not recorded | In 1 condition |
| SRP54signal recognition particle 54 | Not recorded | In 1 condition |
| THBDthrombomodulin | Not recorded | In 1 condition |
| TNFSF11TNF superfamily member 11 | Not recorded | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Not recorded | In 1 condition |
| VWFvon Willebrand factor | Not recorded | In 2 conditions |
| WFS1wolframin ER transmembrane glycoprotein | Not recorded | In 1 condition |
| XIAPX-linked inhibitor of apoptosis | 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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