Požymis
Low platelet count
Klinikinis pavadinimas: Thrombocytopenia
A reduction in the number of circulating thrombocytes.
Santrauka
- Kūno sistema
- Abnormality of blood and blood-forming tissues
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test394 genų susiję su Low platelet count
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Low platelet count. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCG8ATP binding cassette subfamily G member 8 | Visada | 1 ligoje |
| ACTBactin beta | Visada | 1 ligoje |
| ACTN1actinin alpha 1 | Visada | 2 ligose |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Visada | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Visada | 2 ligose |
| ANKRD26ankyrin repeat domain 26 | Visada | 1 ligoje |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Visada | 1 ligoje |
| APOA1apolipoprotein A1 | Visada | 1 ligoje |
| APOEapolipoprotein E | Visada | 1 ligoje |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Visada | 1 ligoje |
| BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6 | Visada | 1 ligoje |
| C1GALT1C1C1GALT1 specific chaperone 1 | Visada | 1 ligoje |
| CD46CD46 molecule | Visada | 2 ligose |
| CFHcomplement factor H | Visada | 2 ligose |
| CFIcomplement factor I | Visada | 2 ligose |
| CLCN7Cl-/H+ antiporter 7 | Visada | 3 ligose |
| COG6component of oligomeric golgi complex 6 | Visada | 1 ligoje |
| COPZ1coat protein complex I subunit zeta 1 | Visada | 1 ligoje |
| CYCScytochrome c, somatic | Visada | 1 ligoje |
| DIAPH1diaphanous related formin 1 | Visada | 2 ligose |
| EFL1elongation factor like GTPase 1 | Visada | 2 ligose |
| ERCC6L2ERCC excision repair 6 like 2 | Visada | 1 ligoje |
| ETV6ETS variant transcription factor 6 | Visada | 1 ligoje |
| EXOC3L2exocyst complex component 3 like 2 | Visada | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Visada | 2 ligose |
| FANCCFA complementation group C | Visada | 2 ligose |
| FANCFFA complementation group F | Visada | 2 ligose |
| FRYLFRY like transcription coactivator | Visada | 1 ligoje |
| FYB1FYN binding protein 1 | Visada | 1 ligoje |
| GALEUDP-galactose-4-epimerase | Visada | 1 ligoje |
| GATA1GATA binding protein 1 | Visada | 4 ligose |
| GBA1glucosylceramidase beta 1 | Visada | 9 ligose |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| GFI1Bgrowth factor independent 1B transcriptional repressor | Visada | 2 ligose |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Visada | 1 ligoje |
| GP1BAglycoprotein Ib platelet subunit alpha | Visada | 3 ligose |
| GP1BBglycoprotein Ib platelet subunit beta | Visada | 3 ligose |
| GP9glycoprotein IX platelet | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| HELLPARHELLP associated long non-coding RNA | Visada | 1 ligoje |
Rodyti dar 354 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Visada | 1 ligoje |
| IKZF5IKAROS family zinc finger 5 | Visada | 1 ligoje |
| IRF8interferon regulatory factor 8 | Visada | 1 ligoje |
| ITGA2Bintegrin subunit alpha 2b | Visada | 2 ligose |
| ITGB3integrin subunit beta 3 | Visada | 2 ligose |
| KIF15kinesin family member 15 | Visada | 2 ligose |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| LIPAlipase A, lysosomal acid type | Visada | 1 ligoje |
| LRBALPS responsive beige-like anchor protein | Visada | 1 ligoje |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Visada | 2 ligose |
| MAN2B2mannosidase alpha class 2B member 2 | Visada | 1 ligoje |
| MMADHCmetabolism of cobalamin associated D | Visada | 1 ligoje |
| MMUTmethylmalonyl-CoA mutase | Visada | 3 ligose |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Visada | 1 ligoje |
| MYH9myosin heavy chain 9 | Visada | 1 ligoje |
| NLRC4NLR family CARD domain containing 4 | Visada | 1 ligoje |
| OTULINOTU deubiquitinase with linear linkage specificity | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 3 ligose |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Visada | 1 ligoje |
| PLD4phospholipase D family member 4 | Visada | 1 ligoje |
| POMPproteasome maturation protein | Visada | 1 ligoje |
| POT1protection of telomeres 1 | Visada | 1 ligoje |
| PRF1perforin 1 | Visada | 3 ligose |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Visada | 1 ligoje |
| PSAPprosaposin | Visada | 2 ligose |
| PTCRApre T cell antigen receptor alpha | Visada | 1 ligoje |
| PTPRJprotein tyrosine phosphatase receptor type J | Visada | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Visada | 1 ligoje |
| RC3H1ring finger and CCCH-type domains 1 | Visada | 1 ligoje |
| RUNX1RUNX family transcription factor 1 | Visada | 3 ligose |
| SAMD9sterile alpha motif domain containing 9 | Visada | 2 ligose |
| SEC61A1SEC61 translocon subunit alpha 1 | Visada | 1 ligoje |
| SLC19A1solute carrier family 19 member 1 | Visada | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Visada | 1 ligoje |
| SLFN14schlafen family member 14 | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| SRP68signal recognition particle 68 | Visada | 1 ligoje |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Visada | 2 ligose |
| STXBP2syntaxin binding protein 2 | Visada | 2 ligose |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Visada | 1 ligoje |
| THPOthrombopoietin | Visada | 2 ligose |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Visada | 2 ligose |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Visada | 1 ligoje |
| VPS45vacuolar protein sorting 45 homolog | Visada | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 2 ligose |
| WASWASP actin nucleation promoting factor | Visada | 2 ligose |
| WIPF1WAS/WASL interacting protein family member 1 | Visada | 1 ligoje |
| ZFPM2zinc finger protein, FOG family member 2 | Visada | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Labai dažnai (80–99%) | 2 ligose |
| ATP7BATPase copper transporting beta | Labai dažnai (80–99%) | 2 ligose |
| ATRXATRX chromatin remodeler | Labai dažnai (80–99%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Labai dažnai (80–99%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Labai dažnai (80–99%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Labai dažnai (80–99%) | 2 ligose |
| DKC1dyskerin pseudouridine synthase 1 | Labai dažnai (80–99%) | 3 ligose |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| FANCAFA complementation group A | Labai dažnai (80–99%) | 2 ligose |
| FANCBFA complementation group B | Labai dažnai (80–99%) | 2 ligose |
| FANCD2FA complementation group D2 | Labai dažnai (80–99%) | 2 ligose |
| FANCEFA complementation group E | Labai dažnai (80–99%) | 2 ligose |
| FANCGFA complementation group G | Labai dažnai (80–99%) | 2 ligose |
| FANCIFA complementation group I | Labai dažnai (80–99%) | 2 ligose |
| FANCLFA complementation group L | Labai dažnai (80–99%) | 1 ligoje |
| FANCMFA complementation group M | Labai dažnai (80–99%) | 1 ligoje |
| FCGR2CFc gamma receptor IIc (gene/pseudogene) | Labai dažnai (80–99%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Labai dažnai (80–99%) | 2 ligose |
| GATA2GATA binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| GIMAP5GTPase, IMAP family member 5 | Labai dažnai (80–99%) | 1 ligoje |
| NBEAL2neurobeachin like 2 | Labai dažnai (80–99%) | 2 ligose |
| NBNnibrin | Labai dažnai (80–99%) | 2 ligose |
| NHEJ1non-homologous end joining factor 1 | Labai dažnai (80–99%) | 2 ligose |
| NHP2NHP2 ribonucleoprotein | Labai dažnai (80–99%) | 3 ligose |
| NOP10NOP10 ribonucleoprotein | Labai dažnai (80–99%) | 2 ligose |
| NPM1nucleophosmin 1 | Labai dažnai (80–99%) | 2 ligose |
| PALB2partner and localizer of BRCA2 | Labai dažnai (80–99%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Labai dažnai (80–99%) | 2 ligose |
| PRIM1DNA primase subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAD51RAD51 recombinase | Labai dažnai (80–99%) | 1 ligoje |
| RAD51CRAD51 paralog C | Labai dažnai (80–99%) | 1 ligoje |
| RBM8ARNA binding motif protein 8A | Labai dažnai (80–99%) | 2 ligose |
| RFWD3ring finger and WD repeat domain 3 | Labai dažnai (80–99%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Labai dažnai (80–99%) | 2 ligose |
| SLC35A1solute carrier family 35 member A1 | Labai dažnai (80–99%) | 2 ligose |
| SLX4SLX4 structure-specific endonuclease subunit | Labai dažnai (80–99%) | 1 ligoje |
| STIM1stromal interaction molecule 1 | Labai dažnai (80–99%) | 1 ligoje |
| STX11syntaxin 11 | Labai dažnai (80–99%) | 2 ligose |
| TALDO1transaldolase 1 | Labai dažnai (80–99%) | 2 ligose |
| TERCtelomerase RNA component | Labai dažnai (80–99%) | 4 ligose |
| TERTtelomerase reverse transcriptase | Labai dažnai (80–99%) | 5 ligose |
| TINF2TERF1 interacting nuclear factor 2 | Labai dažnai (80–99%) | 4 ligose |
| TLR8toll like receptor 8 | Labai dažnai (80–99%) | 1 ligoje |
| TPM4tropomyosin 4 | Labai dažnai (80–99%) | 2 ligose |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Labai dažnai (80–99%) | 1 ligoje |
| TUBA8tubulin alpha 8 | Labai dažnai (80–99%) | 1 ligoje |
| TUBB1tubulin beta 1 class VI | Labai dažnai (80–99%) | 1 ligoje |
| TYMSthymidylate synthetase | Labai dažnai (80–99%) | 1 ligoje |
| UNC13Dunc-13 homolog D | Labai dažnai (80–99%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Labai dažnai (80–99%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Labai dažnai (80–99%) | 2 ligose |
| WRAP53WD repeat containing antisense to TP53 | Labai dažnai (80–99%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Labai dažnai (80–99%) | 1 ligoje |
| ABCD4ATP binding cassette subfamily D member 4 | Dažnai (30–79%) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| ACAD9acyl-CoA dehydrogenase family member 9 | Dažnai (30–79%) | 2 ligose |
| AGKacylglycerol kinase | Dažnai (30–79%) | 1 ligoje |
| AK2adenylate kinase 2 | Dažnai (30–79%) | 1 ligoje |
| ALKALK receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| ARPC1Bactin related protein 2/3 complex subunit 1B | Dažnai (30–79%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Dažnai (30–79%) | 2 ligose |
| BCORBCL6 corepressor | Dažnai (30–79%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Dažnai (30–79%) | 1 ligoje |
| BTNL2butyrophilin like 2 | Dažnai (30–79%) | 1 ligoje |
| CALRcalreticulin | Dažnai (30–79%) | 1 ligoje |
| CDC42cell division cycle 42 | Dažnai (30–79%) | 2 ligose |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Dažnai (30–79%) | 1 ligoje |
| DEF6DEF6 guanine nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Dažnai (30–79%) | 3 ligose |
| EPHB2EPH receptor B2 | Dažnai (30–79%) | 1 ligoje |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Dažnai (30–79%) | 1 ligoje |
| GNA14G protein subunit alpha 14 | Dažnai (30–79%) | 2 ligose |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 2 ligose |
| IFIH1interferon induced with helicase C domain 1 | Dažnai (30–79%) | 1 ligoje |
| IL6STinterleukin 6 cytokine family signal transducer | Dažnai (30–79%) | 1 ligoje |
| IRAK1interleukin 1 receptor associated kinase 1 | Dažnai (30–79%) | 2 ligose |
| IRF1interferon regulatory factor 1 | Dažnai (30–79%) | 1 ligoje |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Dažnai (30–79%) | 1 ligoje |
| JAK2Janus kinase 2 | Dažnai (30–79%) | 1 ligoje |
| KITKIT proto-oncogene, receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Dažnai (30–79%) | 1 ligoje |
| LMO1LIM domain only 1 | Dažnai (30–79%) | 1 ligoje |
| MADDMAP kinase activating death domain | Dažnai (30–79%) | 2 ligose |
| MMACHCmetabolism of cobalamin associated C | Dažnai (30–79%) | 2 ligose |
| MPLMPL proto-oncogene, thrombopoietin receptor | Dažnai (30–79%) | 2 ligose |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Dažnai (30–79%) | 1 ligoje |
| MYSM1Myb like, SWIRM and MPN domains 1 | Dažnai (30–79%) | 2 ligose |
| NABP1nucleic acid binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| NUMA1nuclear mitotic apparatus protein 1 | Dažnai (30–79%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| PEPDpeptidase D | Dažnai (30–79%) | 1 ligoje |
| PHOX2Bpaired like homeobox 2B | Dažnai (30–79%) | 1 ligoje |
| PMLPML nuclear body scaffold | Dažnai (30–79%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Dažnai (30–79%) | 1 ligoje |
| RARAretinoic acid receptor alpha | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| RECQLRecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| RPL17ribosomal protein L17 | Dažnai (30–79%) | 1 ligoje |
| RPS19ribosomal protein S19 | Dažnai (30–79%) | 2 ligose |
| SALL4spalt like transcription factor 4 | Dažnai (30–79%) | 2 ligose |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Dažnai (30–79%) | 3 ligose |
| SC5Dsterol-C5-desaturase | Dažnai (30–79%) | 1 ligoje |
| SCARB2scavenger receptor class B member 2 | Dažnai (30–79%) | 2 ligose |
| SLC19A2solute carrier family 19 member 2 | Dažnai (30–79%) | 2 ligose |
| SLC39A7solute carrier family 39 member 7 | Dažnai (30–79%) | 1 ligoje |
| SLC7A7solute carrier family 7 member 7 | Dažnai (30–79%) | 2 ligose |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Dažnai (30–79%) | 2 ligose |
| SMPD1sphingomyelin phosphodiesterase 1 | Dažnai (30–79%) | 3 ligose |
| SNX10sorting nexin 10 | Dažnai (30–79%) | 1 ligoje |
| SPP1secreted phosphoprotein 1 | Dažnai (30–79%) | 2 ligose |
| SRSF2serine and arginine rich splicing factor 2 | Dažnai (30–79%) | 2 ligose |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Dažnai (30–79%) | 2 ligose |
| STAT5Bsignal transducer and activator of transcription 5B | Dažnai (30–79%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 1 ligoje |
| TBXAS1thromboxane A synthase 1 | Dažnai (30–79%) | 1 ligoje |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Dažnai (30–79%) | 2 ligose |
| TCN2transcobalamin 2 | Dažnai (30–79%) | 1 ligoje |
| TET2tet methylcytosine dioxygenase 2 | Dažnai (30–79%) | 5 ligose |
| TLR7toll like receptor 7 | Dažnai (30–79%) | 2 ligose |
| TMEM165transmembrane protein 165 | Dažnai (30–79%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Dažnai (30–79%) | 3 ligose |
| UROSuroporphyrinogen III synthase | Dažnai (30–79%) | 2 ligose |
| USP18ubiquitin specific peptidase 18 | Dažnai (30–79%) | 1 ligoje |
| ZBTB16zinc finger and BTB domain containing 16 | Dažnai (30–79%) | 1 ligoje |
| ZNFX1zinc finger NFX1-type containing 1 | Dažnai (30–79%) | 1 ligoje |
| ABCA1ATP binding cassette subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| AFG2AAAA ATPase AFG2A | Kartais (5–29%) | 2 ligose |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AMNamnion associated transmembrane protein | Kartais (5–29%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| ARHGAP31Rho GTPase activating protein 31 | Kartais (5–29%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Kartais (5–29%) | 1 ligoje |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Kartais (5–29%) | 1 ligoje |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| BTKBruton tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| C4Acomplement C4A (Chido/Rodgers blood group) | Kartais (5–29%) | 1 ligoje |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CBLCbl proto-oncogene | Kartais (5–29%) | 1 ligoje |
| CDC40cell division cycle 40 | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Kartais (5–29%) | 1 ligoje |
| CR2complement C3d receptor 2 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Kartais (5–29%) | 1 ligoje |
| CUBNcubilin | Kartais (5–29%) | 1 ligoje |
| DGKEdiacylglycerol kinase epsilon | Kartais (5–29%) | 1 ligoje |
| DLL4delta like canonical Notch ligand 4 | Kartais (5–29%) | 1 ligoje |
| DNASE1deoxyribonuclease 1 | Kartais (5–29%) | 2 ligose |
| DOCK2dedicator of cytokinesis 2 | Kartais (5–29%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Kartais (5–29%) | 1 ligoje |
| DZIP1LDAZ interacting zinc finger protein 1 like | Kartais (5–29%) | 1 ligoje |
| ELANEelastase, neutrophil expressed | Kartais (5–29%) | 1 ligoje |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Kartais (5–29%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| ETS1ETS proto-oncogene 1, transcription factor | Kartais (5–29%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| FCGR2BFc gamma receptor IIb | Kartais (5–29%) | 2 ligose |
| FCGR3BFc gamma receptor IIIb | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| FOXP3forkhead box P3 | Kartais (5–29%) | 1 ligoje |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Kartais (5–29%) | 2 ligose |
| HEATR3HEAT repeat containing 3 | Kartais (5–29%) | 2 ligose |
| HIRAhistone cell cycle regulator | Kartais (5–29%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 1 ligoje |
| HLCSholocarboxylase synthetase | Kartais (5–29%) | 2 ligose |
| IFNGinterferon gamma | Kartais (5–29%) | 1 ligoje |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Kartais (5–29%) | 1 ligoje |
| IKZF1IKAROS family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| IL10interleukin 10 | Kartais (5–29%) | 1 ligoje |
| IRF5interferon regulatory factor 5 | Kartais (5–29%) | 1 ligoje |
| ITGAMintegrin subunit alpha M | Kartais (5–29%) | 1 ligoje |
| JAZF1JAZF zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Kartais (5–29%) | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| KIAA0319LKIAA0319 like | Kartais (5–29%) | 1 ligoje |
| LBRlamin B receptor | Kartais (5–29%) | 1 ligoje |
| LMBRD1LMBR1 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Kartais (5–29%) | 2 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NFKB1nuclear factor kappa B subunit 1 | Kartais (5–29%) | 1 ligoje |
| NOTCH1notch receptor 1 | Kartais (5–29%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Kartais (5–29%) | 1 ligoje |
| PDCD1programmed cell death 1 | Kartais (5–29%) | 1 ligoje |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PPIL1peptidylprolyl isomerase like 1 | Kartais (5–29%) | 1 ligoje |
| PSMB8proteasome 20S subunit beta 8 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 1 ligoje |
| PXKPX domain containing serine/threonine kinase like | Kartais (5–29%) | 1 ligoje |
| RAG1recombination activating 1 | Kartais (5–29%) | 2 ligose |
| RAG2recombination activating 2 | Kartais (5–29%) | 2 ligose |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Kartais (5–29%) | 1 ligoje |
| RRAS2RAS related 2 | Kartais (5–29%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Kartais (5–29%) | 1 ligoje |
| RRP12ribosomal RNA processing 12 homolog | Kartais (5–29%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Kartais (5–29%) | 1 ligoje |
| SF3B1splicing factor 3b subunit 1 | Kartais (5–29%) | 1 ligoje |
| SLC46A1solute carrier family 46 member 1 | Kartais (5–29%) | 2 ligose |
| SLF2SMC5/6 complex localization factor 2 | Kartais (5–29%) | 1 ligoje |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Kartais (5–29%) | 1 ligoje |
| SP110SP110 nuclear body protein | Kartais (5–29%) | 1 ligoje |
| STAT1signal transducer and activator of transcription 1 | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 2 ligose |
| TNFAIP3TNF alpha induced protein 3 | Kartais (5–29%) | 2 ligose |
| TNFSF4TNF superfamily member 4 | Kartais (5–29%) | 1 ligoje |
| TNIP1TNFAIP3 interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Kartais (5–29%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Kartais (5–29%) | 1 ligoje |
| VPS33BVPS33B late endosome and lysosome associated | Kartais (5–29%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Retai (1–4 %) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Retai (1–4 %) | 1 ligoje |
| CORINcorin, serine peptidase | Retai (1–4 %) | 1 ligoje |
| FLT1fms related receptor tyrosine kinase 1 | Retai (1–4 %) | 1 ligoje |
| RPL11ribosomal protein L11 | Retai (1–4 %) | 1 ligoje |
| RPL15ribosomal protein L15 | Retai (1–4 %) | 1 ligoje |
| RPL18ribosomal protein L18 | Retai (1–4 %) | 1 ligoje |
| RPL26ribosomal protein L26 | Retai (1–4 %) | 1 ligoje |
| RPL27ribosomal protein L27 | Retai (1–4 %) | 1 ligoje |
| RPL31ribosomal protein L31 | Retai (1–4 %) | 1 ligoje |
| RPL35ribosomal protein L35 | Retai (1–4 %) | 1 ligoje |
| RPL35Aribosomal protein L35a | Retai (1–4 %) | 1 ligoje |
| RPL5ribosomal protein L5 | Retai (1–4 %) | 1 ligoje |
| RPL8ribosomal protein L8 | Retai (1–4 %) | 1 ligoje |
| RPL9ribosomal protein L9 | Retai (1–4 %) | 1 ligoje |
| RPS10ribosomal protein S10 | Retai (1–4 %) | 1 ligoje |
| RPS15Aribosomal protein S15a | Retai (1–4 %) | 1 ligoje |
| RPS17ribosomal protein S17 | Retai (1–4 %) | 1 ligoje |
| RPS20ribosomal protein S20 | Retai (1–4 %) | 1 ligoje |
| RPS24ribosomal protein S24 | Retai (1–4 %) | 1 ligoje |
| RPS26ribosomal protein S26 | Retai (1–4 %) | 1 ligoje |
| RPS27ribosomal protein S27 | Retai (1–4 %) | 1 ligoje |
| RPS28ribosomal protein S28 | Retai (1–4 %) | 1 ligoje |
| RPS29ribosomal protein S29 | Retai (1–4 %) | 1 ligoje |
| RPS7ribosomal protein S7 | Retai (1–4 %) | 1 ligoje |
| RYR1ryanodine receptor 1 | Retai (1–4 %) | 1 ligoje |
| STOX1storkhead box 1 | Retai (1–4 %) | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Retai (1–4 %) | 1 ligoje |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Neužfiksuota | 1 ligoje |
| C3complement C3 | Neužfiksuota | 1 ligoje |
| CASP10caspase 10 | Neužfiksuota | 1 ligoje |
| CD36CD36 molecule (CD36 blood group) | Neužfiksuota | 1 ligoje |
| CD40LGCD40 ligand | Neužfiksuota | 1 ligoje |
| CFBcomplement factor B | Neužfiksuota | 1 ligoje |
| CFHR1complement factor H related 1 | Neužfiksuota | 1 ligoje |
| CFHR3complement factor H related 3 | Neužfiksuota | 1 ligoje |
| COL4A3collagen type IV alpha 3 chain | Neužfiksuota | 1 ligoje |
| COL4A4collagen type IV alpha 4 chain | Neužfiksuota | 1 ligoje |
| COL4A5collagen type IV alpha 5 chain | Neužfiksuota | 1 ligoje |
| DCLRE1CDNA cross-link repair 1C | Neužfiksuota | 1 ligoje |
| DGUOKdeoxyguanosine kinase | Neužfiksuota | 1 ligoje |
| DHFRdihydrofolate reductase | Neužfiksuota | 1 ligoje |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Neužfiksuota | 1 ligoje |
| FCGR2AFc gamma receptor IIa | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Neužfiksuota | 1 ligoje |
| ITKIL2 inducible T cell kinase | Neužfiksuota | 1 ligoje |
| IVDisovaleryl-CoA dehydrogenase | Neužfiksuota | 1 ligoje |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| LIG4DNA ligase 4 | Neužfiksuota | 1 ligoje |
| MECOMMDS1 and EVI1 complex locus | Neužfiksuota | 1 ligoje |
| MMAAmetabolism of cobalamin associated A | Neužfiksuota | 1 ligoje |
| MMABmetabolism of cobalamin associated B | Neužfiksuota | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Neužfiksuota | 1 ligoje |
| MVKmevalonate kinase | Neužfiksuota | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Neužfiksuota | 1 ligoje |
| OCLNoccludin | Neužfiksuota | 1 ligoje |
| PCCApropionyl-CoA carboxylase subunit alpha | Neužfiksuota | 1 ligoje |
| PCCBpropionyl-CoA carboxylase subunit beta | Neužfiksuota | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Neužfiksuota | 1 ligoje |
| PLAUplasminogen activator, urokinase | Neužfiksuota | 1 ligoje |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Neužfiksuota | 1 ligoje |
| PRDX1peroxiredoxin 1 | Neužfiksuota | 1 ligoje |
| PSMB4proteasome 20S subunit beta 4 | Neužfiksuota | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Neužfiksuota | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Neužfiksuota | 1 ligoje |
| SAMD9Lsterile alpha motif domain containing 9 like | Neužfiksuota | 2 ligose |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Neužfiksuota | 1 ligoje |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| SH2D1ASH2 domain containing 1A | Neužfiksuota | 1 ligoje |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| SRP54signal recognition particle 54 | Neužfiksuota | 1 ligoje |
| THBDthrombomodulin | Neužfiksuota | 1 ligoje |
| TNFSF11TNF superfamily member 11 | Neužfiksuota | 1 ligoje |
| UBA1ubiquitin like modifier activating enzyme 1 | Neužfiksuota | 1 ligoje |
| VWFvon Willebrand factor | Neužfiksuota | 2 ligose |
| WFS1wolframin ER transmembrane glycoprotein | Neužfiksuota | 1 ligoje |
| XIAPX-linked inhibitor of apoptosis | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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