Tunnus
Low platelet count
Kliiniline nimetus: Thrombocytopenia
A reduction in the number of circulating thrombocytes.
Kokkuvõte
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Low platelet count, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test394 geeni on seotud tunnusega Low platelet count
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Low platelet count. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCG8ATP binding cassette subfamily G member 8 | Alati | Esineb 1 haiguses |
| ACTBactin beta | Alati | Esineb 1 haiguses |
| ACTN1actinin alpha 1 | Alati | Esineb 2 haiguses |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Alati | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Alati | Esineb 2 haiguses |
| ANKRD26ankyrin repeat domain 26 | Alati | Esineb 1 haiguses |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alati | Esineb 1 haiguses |
| APOA1apolipoprotein A1 | Alati | Esineb 1 haiguses |
| APOEapolipoprotein E | Alati | Esineb 1 haiguses |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alati | Esineb 1 haiguses |
| BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6 | Alati | Esineb 1 haiguses |
| C1GALT1C1C1GALT1 specific chaperone 1 | Alati | Esineb 1 haiguses |
| CD46CD46 molecule | Alati | Esineb 2 haiguses |
| CFHcomplement factor H | Alati | Esineb 2 haiguses |
| CFIcomplement factor I | Alati | Esineb 2 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Alati | Esineb 3 haiguses |
| COG6component of oligomeric golgi complex 6 | Alati | Esineb 1 haiguses |
| COPZ1coat protein complex I subunit zeta 1 | Alati | Esineb 1 haiguses |
| CYCScytochrome c, somatic | Alati | Esineb 1 haiguses |
| DIAPH1diaphanous related formin 1 | Alati | Esineb 2 haiguses |
| EFL1elongation factor like GTPase 1 | Alati | Esineb 2 haiguses |
| ERCC6L2ERCC excision repair 6 like 2 | Alati | Esineb 1 haiguses |
| ETV6ETS variant transcription factor 6 | Alati | Esineb 1 haiguses |
| EXOC3L2exocyst complex component 3 like 2 | Alati | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Alati | Esineb 2 haiguses |
| FANCCFA complementation group C | Alati | Esineb 2 haiguses |
| FANCFFA complementation group F | Alati | Esineb 2 haiguses |
| FRYLFRY like transcription coactivator | Alati | Esineb 1 haiguses |
| FYB1FYN binding protein 1 | Alati | Esineb 1 haiguses |
| GALEUDP-galactose-4-epimerase | Alati | Esineb 1 haiguses |
| GATA1GATA binding protein 1 | Alati | Esineb 4 haiguses |
| GBA1glucosylceramidase beta 1 | Alati | Esineb 9 haiguses |
| GCSHglycine cleavage system protein H | Alati | Esineb 1 haiguses |
| GFI1Bgrowth factor independent 1B transcriptional repressor | Alati | Esineb 2 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Alati | Esineb 1 haiguses |
| GP1BAglycoprotein Ib platelet subunit alpha | Alati | Esineb 3 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Alati | Esineb 3 haiguses |
| GP9glycoprotein IX platelet | Alati | Esineb 1 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Alati | Esineb 1 haiguses |
| HELLPARHELLP associated long non-coding RNA | Alati | Esineb 1 haiguses |
Näita veel 354 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Alati | Esineb 1 haiguses |
| IKZF5IKAROS family zinc finger 5 | Alati | Esineb 1 haiguses |
| IRF8interferon regulatory factor 8 | Alati | Esineb 1 haiguses |
| ITGA2Bintegrin subunit alpha 2b | Alati | Esineb 2 haiguses |
| ITGB3integrin subunit beta 3 | Alati | Esineb 2 haiguses |
| KIF15kinesin family member 15 | Alati | Esineb 2 haiguses |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| LIPAlipase A, lysosomal acid type | Alati | Esineb 1 haiguses |
| LRBALPS responsive beige-like anchor protein | Alati | Esineb 1 haiguses |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| MAD2L2mitotic arrest deficient 2 like 2 | Alati | Esineb 2 haiguses |
| MAN2B2mannosidase alpha class 2B member 2 | Alati | Esineb 1 haiguses |
| MMADHCmetabolism of cobalamin associated D | Alati | Esineb 1 haiguses |
| MMUTmethylmalonyl-CoA mutase | Alati | Esineb 3 haiguses |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Alati | Esineb 1 haiguses |
| MYH9myosin heavy chain 9 | Alati | Esineb 1 haiguses |
| NLRC4NLR family CARD domain containing 4 | Alati | Esineb 1 haiguses |
| OTULINOTU deubiquitinase with linear linkage specificity | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 3 haiguses |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Alati | Esineb 1 haiguses |
| PLD4phospholipase D family member 4 | Alati | Esineb 1 haiguses |
| POMPproteasome maturation protein | Alati | Esineb 1 haiguses |
| POT1protection of telomeres 1 | Alati | Esineb 1 haiguses |
| PRF1perforin 1 | Alati | Esineb 3 haiguses |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Alati | Esineb 1 haiguses |
| PSAPprosaposin | Alati | Esineb 2 haiguses |
| PTCRApre T cell antigen receptor alpha | Alati | Esineb 1 haiguses |
| PTPRJprotein tyrosine phosphatase receptor type J | Alati | Esineb 1 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Alati | Esineb 1 haiguses |
| RC3H1ring finger and CCCH-type domains 1 | Alati | Esineb 1 haiguses |
| RUNX1RUNX family transcription factor 1 | Alati | Esineb 3 haiguses |
| SAMD9sterile alpha motif domain containing 9 | Alati | Esineb 2 haiguses |
| SEC61A1SEC61 translocon subunit alpha 1 | Alati | Esineb 1 haiguses |
| SLC19A1solute carrier family 19 member 1 | Alati | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Alati | Esineb 1 haiguses |
| SLFN14schlafen family member 14 | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| SRP68signal recognition particle 68 | Alati | Esineb 1 haiguses |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Alati | Esineb 2 haiguses |
| STXBP2syntaxin binding protein 2 | Alati | Esineb 2 haiguses |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alati | Esineb 1 haiguses |
| THPOthrombopoietin | Alati | Esineb 2 haiguses |
| TMEM63Btransmembrane protein 63B | Alati | Esineb 1 haiguses |
| UBE2Tubiquitin conjugating enzyme E2 T | Alati | Esineb 2 haiguses |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Alati | Esineb 1 haiguses |
| VPS45vacuolar protein sorting 45 homolog | Alati | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 2 haiguses |
| WASWASP actin nucleation promoting factor | Alati | Esineb 2 haiguses |
| WIPF1WAS/WASL interacting protein family member 1 | Alati | Esineb 1 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Alati | Esineb 1 haiguses |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP7BATPase copper transporting beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATRXATRX chromatin remodeler | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRCA1BRCA1 DNA repair associated | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRIP1BRCA1 interacting DNA helicase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| FANCAFA complementation group A | Väga sageli (80–99%) | Esineb 2 haiguses |
| FANCBFA complementation group B | Väga sageli (80–99%) | Esineb 2 haiguses |
| FANCD2FA complementation group D2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FANCEFA complementation group E | Väga sageli (80–99%) | Esineb 2 haiguses |
| FANCGFA complementation group G | Väga sageli (80–99%) | Esineb 2 haiguses |
| FANCIFA complementation group I | Väga sageli (80–99%) | Esineb 2 haiguses |
| FANCLFA complementation group L | Väga sageli (80–99%) | Esineb 1 haiguses |
| FANCMFA complementation group M | Väga sageli (80–99%) | Esineb 1 haiguses |
| FCGR2CFc gamma receptor IIc (gene/pseudogene) | Väga sageli (80–99%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| GATA2GATA binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GIMAP5GTPase, IMAP family member 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NBEAL2neurobeachin like 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NBNnibrin | Väga sageli (80–99%) | Esineb 2 haiguses |
| NHEJ1non-homologous end joining factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NHP2NHP2 ribonucleoprotein | Väga sageli (80–99%) | Esineb 3 haiguses |
| NOP10NOP10 ribonucleoprotein | Väga sageli (80–99%) | Esineb 2 haiguses |
| NPM1nucleophosmin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PALB2partner and localizer of BRCA2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PARNpoly(A)-specific ribonuclease | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRIM1DNA primase subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAD51RAD51 recombinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAD51CRAD51 paralog C | Väga sageli (80–99%) | Esineb 1 haiguses |
| RBM8ARNA binding motif protein 8A | Väga sageli (80–99%) | Esineb 2 haiguses |
| RFWD3ring finger and WD repeat domain 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RTEL1regulator of telomere elongation helicase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC35A1solute carrier family 35 member A1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLX4SLX4 structure-specific endonuclease subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STX11syntaxin 11 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TALDO1transaldolase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TERCtelomerase RNA component | Väga sageli (80–99%) | Esineb 4 haiguses |
| TERTtelomerase reverse transcriptase | Väga sageli (80–99%) | Esineb 5 haiguses |
| TINF2TERF1 interacting nuclear factor 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| TLR8toll like receptor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TPM4tropomyosin 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBA8tubulin alpha 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBB1tubulin beta 1 class VI | Väga sageli (80–99%) | Esineb 1 haiguses |
| TYMSthymidylate synthetase | Väga sageli (80–99%) | Esineb 1 haiguses |
| UNC13Dunc-13 homolog D | Väga sageli (80–99%) | Esineb 1 haiguses |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Väga sageli (80–99%) | Esineb 2 haiguses |
| WRAP53WD repeat containing antisense to TP53 | Väga sageli (80–99%) | Esineb 1 haiguses |
| XRCC2X-ray repair cross complementing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCD4ATP binding cassette subfamily D member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ACAD9acyl-CoA dehydrogenase family member 9 | Sageli (30–79%) | Esineb 2 haiguses |
| AGKacylglycerol kinase | Sageli (30–79%) | Esineb 1 haiguses |
| AK2adenylate kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALKALK receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ARPC1Bactin related protein 2/3 complex subunit 1B | Sageli (30–79%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| BCORBCL6 corepressor | Sageli (30–79%) | Esineb 1 haiguses |
| BCRBCR activator of RhoGEF and GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| BTNL2butyrophilin like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CALRcalreticulin | Sageli (30–79%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Sageli (30–79%) | Esineb 2 haiguses |
| COG1component of oligomeric golgi complex 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Sageli (30–79%) | Esineb 1 haiguses |
| DEF6DEF6 guanine nucleotide exchange factor | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sageli (30–79%) | Esineb 3 haiguses |
| EPHB2EPH receptor B2 | Sageli (30–79%) | Esineb 1 haiguses |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Sageli (30–79%) | Esineb 1 haiguses |
| GNA14G protein subunit alpha 14 | Sageli (30–79%) | Esineb 2 haiguses |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IL6STinterleukin 6 cytokine family signal transducer | Sageli (30–79%) | Esineb 1 haiguses |
| IRAK1interleukin 1 receptor associated kinase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| IRF1interferon regulatory factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Sageli (30–79%) | Esineb 1 haiguses |
| JAK2Janus kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KITKIT proto-oncogene, receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Sageli (30–79%) | Esineb 1 haiguses |
| LMO1LIM domain only 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Sageli (30–79%) | Esineb 2 haiguses |
| MMACHCmetabolism of cobalamin associated C | Sageli (30–79%) | Esineb 2 haiguses |
| MPLMPL proto-oncogene, thrombopoietin receptor | Sageli (30–79%) | Esineb 2 haiguses |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| MYSM1Myb like, SWIRM and MPN domains 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NABP1nucleic acid binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NUMA1nuclear mitotic apparatus protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PEPDpeptidase D | Sageli (30–79%) | Esineb 1 haiguses |
| PHOX2Bpaired like homeobox 2B | Sageli (30–79%) | Esineb 1 haiguses |
| PMLPML nuclear body scaffold | Sageli (30–79%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| RARAretinoic acid receptor alpha | Sageli (30–79%) | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Sageli (30–79%) | Esineb 1 haiguses |
| RECQLRecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| RPL17ribosomal protein L17 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS19ribosomal protein S19 | Sageli (30–79%) | Esineb 2 haiguses |
| SALL4spalt like transcription factor 4 | Sageli (30–79%) | Esineb 2 haiguses |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SBDSSBDS ribosome maturation factor | Sageli (30–79%) | Esineb 3 haiguses |
| SC5Dsterol-C5-desaturase | Sageli (30–79%) | Esineb 1 haiguses |
| SCARB2scavenger receptor class B member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC19A2solute carrier family 19 member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC39A7solute carrier family 39 member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC7A7solute carrier family 7 member 7 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Sageli (30–79%) | Esineb 3 haiguses |
| SNX10sorting nexin 10 | Sageli (30–79%) | Esineb 1 haiguses |
| SPP1secreted phosphoprotein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SRSF2serine and arginine rich splicing factor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT4signal transducer and activator of transcription 4 | Sageli (30–79%) | Esineb 2 haiguses |
| STAT5Bsignal transducer and activator of transcription 5B | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBXAS1thromboxane A synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Sageli (30–79%) | Esineb 2 haiguses |
| TCN2transcobalamin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TET2tet methylcytosine dioxygenase 2 | Sageli (30–79%) | Esineb 5 haiguses |
| TLR7toll like receptor 7 | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM165transmembrane protein 165 | Sageli (30–79%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Sageli (30–79%) | Esineb 3 haiguses |
| UROSuroporphyrinogen III synthase | Sageli (30–79%) | Esineb 2 haiguses |
| USP18ubiquitin specific peptidase 18 | Sageli (30–79%) | Esineb 1 haiguses |
| ZBTB16zinc finger and BTB domain containing 16 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNFX1zinc finger NFX1-type containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ABCA1ATP binding cassette subfamily A member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADARadenosine deaminase RNA specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFG2AAAA ATPase AFG2A | Mõnikord (5–29%) | Esineb 2 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AMNamnion associated transmembrane protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARHGAP31Rho GTPase activating protein 31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BTKBruton tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| C4Acomplement C4A (Chido/Rodgers blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC40cell division cycle 40 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CR2complement C3d receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CUBNcubilin | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGKEdiacylglycerol kinase epsilon | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLL4delta like canonical Notch ligand 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNASE1deoxyribonuclease 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DOCK2dedicator of cytokinesis 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOCK6dedicator of cytokinesis 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DZIP1LDAZ interacting zinc finger protein 1 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELANEelastase, neutrophil expressed | Mõnikord (5–29%) | Esineb 1 haiguses |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ETS1ETS proto-oncogene 1, transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| FCGR2BFc gamma receptor IIb | Mõnikord (5–29%) | Esineb 2 haiguses |
| FCGR3BFc gamma receptor IIIb | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOCADfocadhesin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP3forkhead box P3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HEATR3HEAT repeat containing 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLCSholocarboxylase synthetase | Mõnikord (5–29%) | Esineb 2 haiguses |
| IFNGinterferon gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Mõnikord (5–29%) | Esineb 1 haiguses |
| IKZF1IKAROS family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL10interleukin 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF5interferon regulatory factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGAMintegrin subunit alpha M | Mõnikord (5–29%) | Esineb 1 haiguses |
| JAZF1JAZF zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0319LKIAA0319 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| LBRlamin B receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMBRD1LMBR1 domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LYSTlysosomal trafficking regulator | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MOGSmannosyl-oligosaccharide glucosidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NFKB1nuclear factor kappa B subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH1notch receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| OTUD5OTU deubiquitinase 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDCD1programmed cell death 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLRMTRNA polymerase mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPIL1peptidylprolyl isomerase like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSMB8proteasome 20S subunit beta 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PXKPX domain containing serine/threonine kinase like | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAG1recombination activating 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RAG2recombination activating 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRP12ribosomal RNA processing 12 homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SF3B1splicing factor 3b subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC46A1solute carrier family 46 member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLF2SMC5/6 complex localization factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC5structural maintenance of chromosomes 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SP110SP110 nuclear body protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT1signal transducer and activator of transcription 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TNFAIP3TNF alpha induced protein 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TNFSF4TNF superfamily member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNIP1TNFAIP3 interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS33BVPS33B late endosome and lysosome associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Harva (1–4%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Harva (1–4%) | Esineb 1 haiguses |
| CORINcorin, serine peptidase | Harva (1–4%) | Esineb 1 haiguses |
| FLT1fms related receptor tyrosine kinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Harva (1–4%) | Esineb 1 haiguses |
| RPL15ribosomal protein L15 | Harva (1–4%) | Esineb 1 haiguses |
| RPL18ribosomal protein L18 | Harva (1–4%) | Esineb 1 haiguses |
| RPL26ribosomal protein L26 | Harva (1–4%) | Esineb 1 haiguses |
| RPL27ribosomal protein L27 | Harva (1–4%) | Esineb 1 haiguses |
| RPL31ribosomal protein L31 | Harva (1–4%) | Esineb 1 haiguses |
| RPL35ribosomal protein L35 | Harva (1–4%) | Esineb 1 haiguses |
| RPL35Aribosomal protein L35a | Harva (1–4%) | Esineb 1 haiguses |
| RPL5ribosomal protein L5 | Harva (1–4%) | Esineb 1 haiguses |
| RPL8ribosomal protein L8 | Harva (1–4%) | Esineb 1 haiguses |
| RPL9ribosomal protein L9 | Harva (1–4%) | Esineb 1 haiguses |
| RPS10ribosomal protein S10 | Harva (1–4%) | Esineb 1 haiguses |
| RPS15Aribosomal protein S15a | Harva (1–4%) | Esineb 1 haiguses |
| RPS17ribosomal protein S17 | Harva (1–4%) | Esineb 1 haiguses |
| RPS20ribosomal protein S20 | Harva (1–4%) | Esineb 1 haiguses |
| RPS24ribosomal protein S24 | Harva (1–4%) | Esineb 1 haiguses |
| RPS26ribosomal protein S26 | Harva (1–4%) | Esineb 1 haiguses |
| RPS27ribosomal protein S27 | Harva (1–4%) | Esineb 1 haiguses |
| RPS28ribosomal protein S28 | Harva (1–4%) | Esineb 1 haiguses |
| RPS29ribosomal protein S29 | Harva (1–4%) | Esineb 1 haiguses |
| RPS7ribosomal protein S7 | Harva (1–4%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Harva (1–4%) | Esineb 1 haiguses |
| STOX1storkhead box 1 | Harva (1–4%) | Esineb 1 haiguses |
| TSR2TSR2 ribosome maturation factor | Harva (1–4%) | Esineb 1 haiguses |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Pole registreeritud | Esineb 1 haiguses |
| C3complement C3 | Pole registreeritud | Esineb 1 haiguses |
| CASP10caspase 10 | Pole registreeritud | Esineb 1 haiguses |
| CD36CD36 molecule (CD36 blood group) | Pole registreeritud | Esineb 1 haiguses |
| CD40LGCD40 ligand | Pole registreeritud | Esineb 1 haiguses |
| CFBcomplement factor B | Pole registreeritud | Esineb 1 haiguses |
| CFHR1complement factor H related 1 | Pole registreeritud | Esineb 1 haiguses |
| CFHR3complement factor H related 3 | Pole registreeritud | Esineb 1 haiguses |
| COL4A3collagen type IV alpha 3 chain | Pole registreeritud | Esineb 1 haiguses |
| COL4A4collagen type IV alpha 4 chain | Pole registreeritud | Esineb 1 haiguses |
| COL4A5collagen type IV alpha 5 chain | Pole registreeritud | Esineb 1 haiguses |
| DCLRE1CDNA cross-link repair 1C | Pole registreeritud | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Pole registreeritud | Esineb 1 haiguses |
| DHFRdihydrofolate reductase | Pole registreeritud | Esineb 1 haiguses |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| FCGR2AFc gamma receptor IIa | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Pole registreeritud | Esineb 1 haiguses |
| ITKIL2 inducible T cell kinase | Pole registreeritud | Esineb 1 haiguses |
| IVDisovaleryl-CoA dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| LIG4DNA ligase 4 | Pole registreeritud | Esineb 1 haiguses |
| MECOMMDS1 and EVI1 complex locus | Pole registreeritud | Esineb 1 haiguses |
| MMAAmetabolism of cobalamin associated A | Pole registreeritud | Esineb 1 haiguses |
| MMABmetabolism of cobalamin associated B | Pole registreeritud | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Pole registreeritud | Esineb 1 haiguses |
| MVKmevalonate kinase | Pole registreeritud | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Pole registreeritud | Esineb 1 haiguses |
| OCLNoccludin | Pole registreeritud | Esineb 1 haiguses |
| PCCApropionyl-CoA carboxylase subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PCCBpropionyl-CoA carboxylase subunit beta | Pole registreeritud | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| PLAUplasminogen activator, urokinase | Pole registreeritud | Esineb 1 haiguses |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Pole registreeritud | Esineb 1 haiguses |
| PRDX1peroxiredoxin 1 | Pole registreeritud | Esineb 1 haiguses |
| PSMB4proteasome 20S subunit beta 4 | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Pole registreeritud | Esineb 1 haiguses |
| SAMD9Lsterile alpha motif domain containing 9 like | Pole registreeritud | Esineb 2 haiguses |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Pole registreeritud | Esineb 1 haiguses |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| SH2D1ASH2 domain containing 1A | Pole registreeritud | Esineb 1 haiguses |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| SRP54signal recognition particle 54 | Pole registreeritud | Esineb 1 haiguses |
| THBDthrombomodulin | Pole registreeritud | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Pole registreeritud | Esineb 1 haiguses |
| UBA1ubiquitin like modifier activating enzyme 1 | Pole registreeritud | Esineb 1 haiguses |
| VWFvon Willebrand factor | Pole registreeritud | Esineb 2 haiguses |
| WFS1wolframin ER transmembrane glycoprotein | Pole registreeritud | Esineb 1 haiguses |
| XIAPX-linked inhibitor of apoptosis | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast