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Træk
Low platelet count
Klinisk navn: Thrombocytopenia
A reduction in the number of circulating thrombocytes.
Resumé
Low platelet countHP:0001873
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Bestil min Genome Test394 gener knyttet til Low platelet count
Ændringer i disse gener forårsager sjældne tilstande, hvor Low platelet count ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCG8ATP binding cassette subfamily G member 8 | Altid | I 1 tilstand |
| ACTBactin beta | Altid | I 1 tilstand |
| ACTN1actinin alpha 1 | Altid | I 2 tilstande |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Altid | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Altid | I 2 tilstande |
| ANKRD26ankyrin repeat domain 26 | Altid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| APOA1apolipoprotein A1 | Altid | I 1 tilstand |
| APOEapolipoprotein E | Altid | I 1 tilstand |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Altid | I 1 tilstand |
| BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6 | Altid | I 1 tilstand |
| C1GALT1C1C1GALT1 specific chaperone 1 | Altid | I 1 tilstand |
| CD46CD46 molecule | Altid | I 2 tilstande |
| CFHcomplement factor H | Altid | I 2 tilstande |
| CFIcomplement factor I | Altid | I 2 tilstande |
| CLCN7Cl-/H+ antiporter 7 | Altid | I 3 tilstande |
| COG6component of oligomeric golgi complex 6 | Altid | I 1 tilstand |
| COPZ1coat protein complex I subunit zeta 1 | Altid | I 1 tilstand |
| CYCScytochrome c, somatic | Altid | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Altid | I 2 tilstande |
| EFL1elongation factor like GTPase 1 | Altid | I 2 tilstande |
| ERCC6L2ERCC excision repair 6 like 2 | Altid | I 1 tilstand |
| ETV6ETS variant transcription factor 6 | Altid | I 1 tilstand |
| EXOC3L2exocyst complex component 3 like 2 | Altid | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Altid | I 2 tilstande |
| FANCCFA complementation group C | Altid | I 2 tilstande |
| FANCFFA complementation group F | Altid | I 2 tilstande |
| FRYLFRY like transcription coactivator | Altid | I 1 tilstand |
| FYB1FYN binding protein 1 | Altid | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Altid | I 1 tilstand |
| GATA1GATA binding protein 1 | Altid | I 4 tilstande |
| GBA1glucosylceramidase beta 1 | Altid | I 9 tilstande |
| GCSHglycine cleavage system protein H | Altid | I 1 tilstand |
| GFI1Bgrowth factor independent 1B transcriptional repressor | Altid | I 2 tilstande |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Altid | I 1 tilstand |
| GP1BAglycoprotein Ib platelet subunit alpha | Altid | I 3 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Altid | I 3 tilstande |
| GP9glycoprotein IX platelet | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| HELLPARHELLP associated long non-coding RNA | Altid | I 1 tilstand |
Vis 354 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| HSCBHscB mitochondrial iron-sulfur cluster cochaperone | Altid | I 1 tilstand |
| IKZF5IKAROS family zinc finger 5 | Altid | I 1 tilstand |
| IRF8interferon regulatory factor 8 | Altid | I 1 tilstand |
| ITGA2Bintegrin subunit alpha 2b | Altid | I 2 tilstande |
| ITGB3integrin subunit beta 3 | Altid | I 2 tilstande |
| KIF15kinesin family member 15 | Altid | I 2 tilstande |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| LIPAlipase A, lysosomal acid type | Altid | I 1 tilstand |
| LRBALPS responsive beige-like anchor protein | Altid | I 1 tilstand |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Altid | I 2 tilstande |
| MAN2B2mannosidase alpha class 2B member 2 | Altid | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Altid | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Altid | I 3 tilstande |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Altid | I 1 tilstand |
| MYH9myosin heavy chain 9 | Altid | I 1 tilstand |
| NLRC4NLR family CARD domain containing 4 | Altid | I 1 tilstand |
| OTULINOTU deubiquitinase with linear linkage specificity | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 3 tilstande |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Altid | I 1 tilstand |
| PLD4phospholipase D family member 4 | Altid | I 1 tilstand |
| POMPproteasome maturation protein | Altid | I 1 tilstand |
| POT1protection of telomeres 1 | Altid | I 1 tilstand |
| PRF1perforin 1 | Altid | I 3 tilstande |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 2 tilstande |
| PTCRApre T cell antigen receptor alpha | Altid | I 1 tilstand |
| PTPRJprotein tyrosine phosphatase receptor type J | Altid | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Altid | I 1 tilstand |
| RC3H1ring finger and CCCH-type domains 1 | Altid | I 1 tilstand |
| RUNX1RUNX family transcription factor 1 | Altid | I 3 tilstande |
| SAMD9sterile alpha motif domain containing 9 | Altid | I 2 tilstande |
| SEC61A1SEC61 translocon subunit alpha 1 | Altid | I 1 tilstand |
| SLC19A1solute carrier family 19 member 1 | Altid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Altid | I 1 tilstand |
| SLFN14schlafen family member 14 | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SRP68signal recognition particle 68 | Altid | I 1 tilstand |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Altid | I 2 tilstande |
| STXBP2syntaxin binding protein 2 | Altid | I 2 tilstande |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| THPOthrombopoietin | Altid | I 2 tilstande |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Altid | I 2 tilstande |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Altid | I 1 tilstand |
| VPS45vacuolar protein sorting 45 homolog | Altid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| WASWASP actin nucleation promoting factor | Altid | I 2 tilstande |
| WIPF1WAS/WASL interacting protein family member 1 | Altid | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Altid | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Meget ofte (80–99 %) | I 2 tilstande |
| ATP7BATPase copper transporting beta | Meget ofte (80–99 %) | I 2 tilstande |
| ATRXATRX chromatin remodeler | Meget ofte (80–99 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Meget ofte (80–99 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Meget ofte (80–99 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DKC1dyskerin pseudouridine synthase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| FANCAFA complementation group A | Meget ofte (80–99 %) | I 2 tilstande |
| FANCBFA complementation group B | Meget ofte (80–99 %) | I 2 tilstande |
| FANCD2FA complementation group D2 | Meget ofte (80–99 %) | I 2 tilstande |
| FANCEFA complementation group E | Meget ofte (80–99 %) | I 2 tilstande |
| FANCGFA complementation group G | Meget ofte (80–99 %) | I 2 tilstande |
| FANCIFA complementation group I | Meget ofte (80–99 %) | I 2 tilstande |
| FANCLFA complementation group L | Meget ofte (80–99 %) | I 1 tilstand |
| FANCMFA complementation group M | Meget ofte (80–99 %) | I 1 tilstand |
| FCGR2CFc gamma receptor IIc (gene/pseudogene) | Meget ofte (80–99 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Meget ofte (80–99 %) | I 2 tilstande |
| GATA2GATA binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GIMAP5GTPase, IMAP family member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| NBEAL2neurobeachin like 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NBNnibrin | Meget ofte (80–99 %) | I 2 tilstande |
| NHEJ1non-homologous end joining factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NHP2NHP2 ribonucleoprotein | Meget ofte (80–99 %) | I 3 tilstande |
| NOP10NOP10 ribonucleoprotein | Meget ofte (80–99 %) | I 2 tilstande |
| NPM1nucleophosmin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PALB2partner and localizer of BRCA2 | Meget ofte (80–99 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Meget ofte (80–99 %) | I 2 tilstande |
| PRIM1DNA primase subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Meget ofte (80–99 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Meget ofte (80–99 %) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Meget ofte (80–99 %) | I 2 tilstande |
| RFWD3ring finger and WD repeat domain 3 | Meget ofte (80–99 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC35A1solute carrier family 35 member A1 | Meget ofte (80–99 %) | I 2 tilstande |
| SLX4SLX4 structure-specific endonuclease subunit | Meget ofte (80–99 %) | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Meget ofte (80–99 %) | I 1 tilstand |
| STX11syntaxin 11 | Meget ofte (80–99 %) | I 2 tilstande |
| TALDO1transaldolase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TERCtelomerase RNA component | Meget ofte (80–99 %) | I 4 tilstande |
| TERTtelomerase reverse transcriptase | Meget ofte (80–99 %) | I 5 tilstande |
| TINF2TERF1 interacting nuclear factor 2 | Meget ofte (80–99 %) | I 4 tilstande |
| TLR8toll like receptor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| TPM4tropomyosin 4 | Meget ofte (80–99 %) | I 2 tilstande |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBA8tubulin alpha 8 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBB1tubulin beta 1 class VI | Meget ofte (80–99 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Meget ofte (80–99 %) | I 1 tilstand |
| UNC13Dunc-13 homolog D | Meget ofte (80–99 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Meget ofte (80–99 %) | I 2 tilstande |
| WRAP53WD repeat containing antisense to TP53 | Meget ofte (80–99 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCD4ATP binding cassette subfamily D member 4 | Ofte (30–79 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 2 tilstande |
| AGKacylglycerol kinase | Ofte (30–79 %) | I 1 tilstand |
| AK2adenylate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ARPC1Bactin related protein 2/3 complex subunit 1B | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Ofte (30–79 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Ofte (30–79 %) | I 1 tilstand |
| CALRcalreticulin | Ofte (30–79 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Ofte (30–79 %) | I 2 tilstande |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Ofte (30–79 %) | I 1 tilstand |
| DEF6DEF6 guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ofte (30–79 %) | I 3 tilstande |
| EPHB2EPH receptor B2 | Ofte (30–79 %) | I 1 tilstand |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Ofte (30–79 %) | I 1 tilstand |
| GNA14G protein subunit alpha 14 | Ofte (30–79 %) | I 2 tilstande |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 2 tilstande |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Ofte (30–79 %) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| IRF1interferon regulatory factor 1 | Ofte (30–79 %) | I 1 tilstand |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Ofte (30–79 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Ofte (30–79 %) | I 1 tilstand |
| LMO1LIM domain only 1 | Ofte (30–79 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Ofte (30–79 %) | I 2 tilstande |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 2 tilstande |
| MPLMPL proto-oncogene, thrombopoietin receptor | Ofte (30–79 %) | I 2 tilstande |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Ofte (30–79 %) | I 2 tilstande |
| NABP1nucleic acid binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NUMA1nuclear mitotic apparatus protein 1 | Ofte (30–79 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PEPDpeptidase D | Ofte (30–79 %) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Ofte (30–79 %) | I 1 tilstand |
| PMLPML nuclear body scaffold | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| RARAretinoic acid receptor alpha | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RECQLRecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| RPL17ribosomal protein L17 | Ofte (30–79 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Ofte (30–79 %) | I 2 tilstande |
| SALL4spalt like transcription factor 4 | Ofte (30–79 %) | I 2 tilstande |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Ofte (30–79 %) | I 3 tilstande |
| SC5Dsterol-C5-desaturase | Ofte (30–79 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC19A2solute carrier family 19 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC39A7solute carrier family 39 member 7 | Ofte (30–79 %) | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 2 tilstande |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ofte (30–79 %) | I 2 tilstande |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 3 tilstande |
| SNX10sorting nexin 10 | Ofte (30–79 %) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Ofte (30–79 %) | I 2 tilstande |
| SRSF2serine and arginine rich splicing factor 2 | Ofte (30–79 %) | I 2 tilstande |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Ofte (30–79 %) | I 2 tilstande |
| STAT5Bsignal transducer and activator of transcription 5B | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 1 tilstand |
| TBXAS1thromboxane A synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Ofte (30–79 %) | I 2 tilstande |
| TCN2transcobalamin 2 | Ofte (30–79 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 5 tilstande |
| TLR7toll like receptor 7 | Ofte (30–79 %) | I 2 tilstande |
| TMEM165transmembrane protein 165 | Ofte (30–79 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 3 tilstande |
| UROSuroporphyrinogen III synthase | Ofte (30–79 %) | I 2 tilstande |
| USP18ubiquitin specific peptidase 18 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB16zinc finger and BTB domain containing 16 | Ofte (30–79 %) | I 1 tilstand |
| ZNFX1zinc finger NFX1-type containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Nogle gange (5–29 %) | I 2 tilstande |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AMNamnion associated transmembrane protein | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| BTKBruton tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| CDC40cell division cycle 40 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CR2complement C3d receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CUBNcubilin | Nogle gange (5–29 %) | I 1 tilstand |
| DGKEdiacylglycerol kinase epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DNASE1deoxyribonuclease 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DOCK2dedicator of cytokinesis 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| ELANEelastase, neutrophil expressed | Nogle gange (5–29 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Nogle gange (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ETS1ETS proto-oncogene 1, transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| FCGR2BFc gamma receptor IIb | Nogle gange (5–29 %) | I 2 tilstande |
| FCGR3BFc gamma receptor IIIb | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP3forkhead box P3 | Nogle gange (5–29 %) | I 1 tilstand |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HEATR3HEAT repeat containing 3 | Nogle gange (5–29 %) | I 2 tilstande |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HLCSholocarboxylase synthetase | Nogle gange (5–29 %) | I 2 tilstande |
| IFNGinterferon gamma | Nogle gange (5–29 %) | I 1 tilstand |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Nogle gange (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| ITGAMintegrin subunit alpha M | Nogle gange (5–29 %) | I 1 tilstand |
| JAZF1JAZF zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0319LKIAA0319 like | Nogle gange (5–29 %) | I 1 tilstand |
| LBRlamin B receptor | Nogle gange (5–29 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Nogle gange (5–29 %) | I 2 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| NFKB1nuclear factor kappa B subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PDCD1programmed cell death 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Nogle gange (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PPIL1peptidylprolyl isomerase like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| PXKPX domain containing serine/threonine kinase like | Nogle gange (5–29 %) | I 1 tilstand |
| RAG1recombination activating 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RAG2recombination activating 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Nogle gange (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SF3B1splicing factor 3b subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC46A1solute carrier family 46 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SP110SP110 nuclear body protein | Nogle gange (5–29 %) | I 1 tilstand |
| STAT1signal transducer and activator of transcription 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TNFAIP3TNF alpha induced protein 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TNFSF4TNF superfamily member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TNIP1TNFAIP3 interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjældent (1–4%) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Sjældent (1–4%) | I 1 tilstand |
| CORINcorin, serine peptidase | Sjældent (1–4%) | I 1 tilstand |
| FLT1fms related receptor tyrosine kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjældent (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjældent (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjældent (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjældent (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjældent (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjældent (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjældent (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjældent (1–4%) | I 1 tilstand |
| RPL5ribosomal protein L5 | Sjældent (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjældent (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjældent (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjældent (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjældent (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjældent (1–4%) | I 1 tilstand |
| RPS20ribosomal protein S20 | Sjældent (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjældent (1–4%) | I 1 tilstand |
| RPS26ribosomal protein S26 | Sjældent (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjældent (1–4%) | I 1 tilstand |
| RPS28ribosomal protein S28 | Sjældent (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjældent (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjældent (1–4%) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Sjældent (1–4%) | I 1 tilstand |
| STOX1storkhead box 1 | Sjældent (1–4%) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Sjældent (1–4%) | I 1 tilstand |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Ikke registreret | I 1 tilstand |
| C3complement C3 | Ikke registreret | I 1 tilstand |
| CASP10caspase 10 | Ikke registreret | I 1 tilstand |
| CD36CD36 molecule (CD36 blood group) | Ikke registreret | I 1 tilstand |
| CD40LGCD40 ligand | Ikke registreret | I 1 tilstand |
| CFBcomplement factor B | Ikke registreret | I 1 tilstand |
| CFHR1complement factor H related 1 | Ikke registreret | I 1 tilstand |
| CFHR3complement factor H related 3 | Ikke registreret | I 1 tilstand |
| COL4A3collagen type IV alpha 3 chain | Ikke registreret | I 1 tilstand |
| COL4A4collagen type IV alpha 4 chain | Ikke registreret | I 1 tilstand |
| COL4A5collagen type IV alpha 5 chain | Ikke registreret | I 1 tilstand |
| DCLRE1CDNA cross-link repair 1C | Ikke registreret | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registreret | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registreret | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registreret | I 1 tilstand |
| FCGR2AFc gamma receptor IIa | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ikke registreret | I 1 tilstand |
| ITKIL2 inducible T cell kinase | Ikke registreret | I 1 tilstand |
| IVDisovaleryl-CoA dehydrogenase | Ikke registreret | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| LIG4DNA ligase 4 | Ikke registreret | I 1 tilstand |
| MECOMMDS1 and EVI1 complex locus | Ikke registreret | I 1 tilstand |
| MMAAmetabolism of cobalamin associated A | Ikke registreret | I 1 tilstand |
| MMABmetabolism of cobalamin associated B | Ikke registreret | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ikke registreret | I 1 tilstand |
| MVKmevalonate kinase | Ikke registreret | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registreret | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registreret | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registreret | I 1 tilstand |
| PLAUplasminogen activator, urokinase | Ikke registreret | I 1 tilstand |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registreret | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ikke registreret | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ikke registreret | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Ikke registreret | I 2 tilstande |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ikke registreret | I 1 tilstand |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| SH2D1ASH2 domain containing 1A | Ikke registreret | I 1 tilstand |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registreret | I 1 tilstand |
| THBDthrombomodulin | Ikke registreret | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Ikke registreret | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registreret | I 1 tilstand |
| VWFvon Willebrand factor | Ikke registreret | I 2 tilstande |
| WFS1wolframin ER transmembrane glycoprotein | Ikke registreret | I 1 tilstand |
| XIAPX-linked inhibitor of apoptosis | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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