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Požymis
Increased spleen size
Klinikinis pavadinimas: Splenomegaly
Abnormal increased size of the spleen.
Santrauka
- Taip pat vadinama
- Large spleen
Increased spleen sizeHP:0001744
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiPradėtinuo 449 $
Read the genes linked to Increased spleen size, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test442 genų susiję su Increased spleen size
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Increased spleen size. 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 |
|---|---|---|
| ABCB11ATP binding cassette subfamily B member 11 | Visada | 2 ligose |
| ABCB4ATP binding cassette subfamily B member 4 | Visada | 1 ligoje |
| ABCD3ATP binding cassette subfamily D member 3 | Visada | 1 ligoje |
| ABCG8ATP binding cassette subfamily G member 8 | Visada | 2 ligose |
| ALDOAaldolase, fructose-bisphosphate A | Visada | 1 ligoje |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Visada | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Visada | 1 ligoje |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Visada | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| APOC2apolipoprotein C2 | Visada | 1 ligoje |
| APOEapolipoprotein E | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ARPC5actin related protein 2/3 complex subunit 5 | Visada | 1 ligoje |
| ATP7BATPase copper transporting beta | Visada | 2 ligose |
| ATP8B1ATPase phospholipid transporting 8B1 | Visada | 2 ligose |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 1 ligoje |
| CALRcalreticulin | Visada | 5 ligose |
| CARD11caspase recruitment domain family member 11 | Visada | 1 ligoje |
| CASP10caspase 10 | Visada | 2 ligose |
| CASP8caspase 8 | Visada | 1 ligoje |
| CD27CD27 molecule | Visada | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Visada | 1 ligoje |
| CR2complement C3d receptor 2 | Visada | 2 ligose |
| CSF3Rcolony stimulating factor 3 receptor | Visada | 1 ligoje |
| CYBC1cytochrome b-245 chaperone 1 | Visada | 2 ligose |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Visada | 1 ligoje |
| DCDC2doublecortin domain containing 2 | Visada | 2 ligose |
| DCLRE1CDNA cross-link repair 1C | Visada | 3 ligose |
| DGUOKdeoxyguanosine kinase | Visada | 2 ligose |
| DHCR77-dehydrocholesterol reductase | Visada | 1 ligoje |
| EPB42erythrocyte membrane protein band 4.2 | Visada | 2 ligose |
| F8coagulation factor VIII | Visada | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Visada | 9 ligose |
| GIMAP5GTPase, IMAP family member 5 | Visada | 1 ligoje |
| GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Visada | 1 ligoje |
| HBBhemoglobin subunit beta | Visada | 10 ligose |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| IDSiduronate 2-sulfatase | Visada | 1 ligoje |
| IRF8interferon regulatory factor 8 | Visada | 1 ligoje |
| ITKIL2 inducible T cell kinase | Visada | 1 ligoje |
Rodyti dar 402 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| JAK2Janus kinase 2 | Visada | 8 ligose |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Visada | 2 ligose |
| KLF1KLF transcription factor 1 | Visada | 4 ligose |
| KRASKRas proto-oncogene, GTPase | Visada | 1 ligoje |
| LATlinker for activation of T cells | Visada | 1 ligoje |
| LIPAlipase A, lysosomal acid type | Visada | 4 ligose |
| LMNAlamin A/C | Visada | 3 ligose |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| MAGT1magnesium transporter 1 | Visada | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Visada | 2 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 1 ligoje |
| MPLMPL proto-oncogene, thrombopoietin receptor | Visada | 4 ligose |
| NFKBIANFKB inhibitor alpha | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| NLRC4NLR family CARD domain containing 4 | Visada | 1 ligoje |
| OAS12'-5'-oligoadenylate synthetase 1 | Visada | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Visada | 2 ligose |
| PDCD1programmed cell death 1 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 2 ligose |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Visada | 1 ligoje |
| PKLRpyruvate kinase L/R | Visada | 2 ligose |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Visada | 1 ligoje |
| POLD3DNA polymerase delta 3, accessory subunit | Visada | 1 ligoje |
| POT1protection of telomeres 1 | Visada | 1 ligoje |
| PSAPprosaposin | Visada | 3 ligose |
| PSKH1protein serine kinase H1 | Visada | 1 ligoje |
| PSMG2proteasome assembly chaperone 2 | Visada | 1 ligoje |
| PTCRApre T cell antigen receptor alpha | Visada | 1 ligoje |
| RASGRP1RAS guanyl releasing protein 1 | Visada | 1 ligoje |
| RC3H1ring finger and CCCH-type domains 1 | Visada | 1 ligoje |
| RFXAPregulatory factor X associated protein | Visada | 1 ligoje |
| RNF31ring finger protein 31 | Visada | 1 ligoje |
| SCYL1SCY1 like pseudokinase 1 | Visada | 1 ligoje |
| SERPINA1serpin family A member 1 | Visada | 1 ligoje |
| SH2B3SH2B adaptor protein 3 | Visada | 4 ligose |
| SLC2A1solute carrier family 2 member 1 | Visada | 2 ligose |
| SLC37A4solute carrier family 37 member 4 | Visada | 2 ligose |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Visada | 5 ligose |
| SPIN4spindlin family member 4 | Visada | 1 ligoje |
| SPTBspectrin beta, erythrocytic | Visada | 3 ligose |
| STX11syntaxin 11 | Visada | 2 ligose |
| STXBP2syntaxin binding protein 2 | Visada | 2 ligose |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Visada | 2 ligose |
| TNFRSF9TNF receptor superfamily member 9 | Visada | 1 ligoje |
| TRAF3TNF receptor associated factor 3 | Visada | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Visada | 1 ligoje |
| UROSuroporphyrinogen III synthase | Visada | 2 ligose |
| VPS45vacuolar protein sorting 45 homolog | Visada | 1 ligoje |
| WASWASP actin nucleation promoting factor | Visada | 1 ligoje |
| ADA2adenosine deaminase 2 | Labai dažnai (80–99%) | 1 ligoje |
| ALPK1alpha kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ARSBarylsulfatase B | Labai dažnai (80–99%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Labai dažnai (80–99%) | 1 ligoje |
| CASRcalcium sensing receptor | Labai dažnai (80–99%) | 2 ligose |
| CLCN7Cl-/H+ antiporter 7 | Labai dažnai (80–99%) | 3 ligose |
| CLDN1claudin 1 | Labai dažnai (80–99%) | 2 ligose |
| F5coagulation factor V | Labai dažnai (80–99%) | 1 ligoje |
| FASFas cell surface death receptor | Labai dažnai (80–99%) | 3 ligose |
| FASLGFas ligand | Labai dažnai (80–99%) | 2 ligose |
| G6PDglucose-6-phosphate dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| GATA1GATA binding protein 1 | Labai dažnai (80–99%) | 3 ligose |
| GLB1galactosidase beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| GPC3glypican 3 | Labai dažnai (80–99%) | 2 ligose |
| GPC4glypican 4 | Labai dažnai (80–99%) | 1 ligoje |
| HBG1hemoglobin subunit gamma 1 | Labai dažnai (80–99%) | 2 ligose |
| HBG2hemoglobin subunit gamma 2 | Labai dažnai (80–99%) | 2 ligose |
| IDUAalpha-L-iduronidase | Labai dažnai (80–99%) | 5 ligose |
| LRBALPS responsive beige-like anchor protein | Labai dažnai (80–99%) | 1 ligoje |
| MVKmevalonate kinase | Labai dažnai (80–99%) | 2 ligose |
| NEU1neuraminidase 1 | Labai dažnai (80–99%) | 2 ligose |
| NLRP3NLR family pyrin domain containing 3 | Labai dažnai (80–99%) | 2 ligose |
| OTCornithine transcarbamylase | Labai dažnai (80–99%) | 1 ligoje |
| PRF1perforin 1 | Labai dažnai (80–99%) | 2 ligose |
| RAB27ARAB27A, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RAG1recombination activating 1 | Labai dažnai (80–99%) | 3 ligose |
| SCARB2scavenger receptor class B member 2 | Labai dažnai (80–99%) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Labai dažnai (80–99%) | 3 ligose |
| SNX10sorting nexin 10 | Labai dažnai (80–99%) | 2 ligose |
| SUMF1sulfatase modifying factor 1 | Labai dažnai (80–99%) | 2 ligose |
| TLR8toll like receptor 8 | Labai dažnai (80–99%) | 1 ligoje |
| TNFSF11TNF superfamily member 11 | Labai dažnai (80–99%) | 1 ligoje |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Labai dažnai (80–99%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Labai dažnai (80–99%) | 2 ligose |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Labai dažnai (80–99%) | 1 ligoje |
| XIAPX-linked inhibitor of apoptosis | Labai dažnai (80–99%) | 3 ligose |
| ABCG5ATP binding cassette subfamily G member 5 | Dažnai (30–79%) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| ADAadenosine deaminase | Dažnai (30–79%) | 2 ligose |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Dažnai (30–79%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Dažnai (30–79%) | 1 ligoje |
| ANK1ankyrin 1 | Dažnai (30–79%) | 3 ligose |
| ATMATM serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Dažnai (30–79%) | 1 ligoje |
| BCL2BCL2 apoptosis regulator | Dažnai (30–79%) | 1 ligoje |
| BCL6BCL6 transcription repressor | Dažnai (30–79%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Dažnai (30–79%) | 1 ligoje |
| CAVIN1caveolae associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| CBLCbl proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Dažnai (30–79%) | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Dažnai (30–79%) | 1 ligoje |
| CCND1cyclin D1 | Dažnai (30–79%) | 2 ligose |
| CD28CD28 molecule | Dažnai (30–79%) | 2 ligose |
| CD4CD4 molecule | Dažnai (30–79%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Dažnai (30–79%) | 1 ligoje |
| COG6component of oligomeric golgi complex 6 | Dažnai (30–79%) | 1 ligoje |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Dažnai (30–79%) | 1 ligoje |
| COX4I2cytochrome c oxidase subunit 4I2 | Dažnai (30–79%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Dažnai (30–79%) | 4 ligose |
| DOCK11dedicator of cytokinesis 11 | Dažnai (30–79%) | 1 ligoje |
| DZIP1LDAZ interacting zinc finger protein 1 like | Dažnai (30–79%) | 1 ligoje |
| FAHfumarylacetoacetate hydrolase | Dažnai (30–79%) | 2 ligose |
| FAT4FAT atypical cadherin 4 | Dažnai (30–79%) | 1 ligoje |
| FCHO1FCH and mu domain containing endocytic adaptor 1 | Dažnai (30–79%) | 1 ligoje |
| FERMT3FERM domain containing kindlin 3 | Dažnai (30–79%) | 1 ligoje |
| FOCADfocadhesin | Dažnai (30–79%) | 1 ligoje |
| GATA2GATA binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Dažnai (30–79%) | 1 ligoje |
| GNSglucosamine (N-acetyl)-6-sulfatase | Dažnai (30–79%) | 1 ligoje |
| GPD1glycerol-3-phosphate dehydrogenase 1 | Dažnai (30–79%) | 1 ligoje |
| GPIglucose-6-phosphate isomerase | Dažnai (30–79%) | 2 ligose |
| GPR35G protein-coupled receptor 35 | Dažnai (30–79%) | 1 ligoje |
| GUSBglucuronidase beta | Dažnai (30–79%) | 2 ligose |
| HBA1hemoglobin subunit alpha 1 | Dažnai (30–79%) | 2 ligose |
| HBA2hemoglobin subunit alpha 2 | Dažnai (30–79%) | 2 ligose |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 3 ligose |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Dažnai (30–79%) | 2 ligose |
| IFIH1interferon induced with helicase C domain 1 | Dažnai (30–79%) | 1 ligoje |
| IFT56intraflagellar transport 56 | Dažnai (30–79%) | 1 ligoje |
| IGHimmunoglobulin heavy locus | Dažnai (30–79%) | 2 ligose |
| IKZF3IKAROS family zinc finger 3 | Dažnai (30–79%) | 1 ligoje |
| IL2RGinterleukin 2 receptor subunit gamma | Dažnai (30–79%) | 1 ligoje |
| IL7Rinterleukin 7 receptor | Dažnai (30–79%) | 2 ligose |
| INSRinsulin receptor | Dažnai (30–79%) | 1 ligoje |
| IRF1interferon regulatory factor 1 | Dažnai (30–79%) | 1 ligoje |
| IRF4interferon regulatory factor 4 | Dažnai (30–79%) | 2 ligose |
| LPIN2lipin 2 | Dažnai (30–79%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Dažnai (30–79%) | 2 ligose |
| MMUTmethylmalonyl-CoA mutase | Dažnai (30–79%) | 1 ligoje |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Dažnai (30–79%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Dažnai (30–79%) | 1 ligoje |
| MST1macrophage stimulating 1 | Dažnai (30–79%) | 1 ligoje |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Dažnai (30–79%) | 1 ligoje |
| NBEAL2neurobeachin like 2 | Dažnai (30–79%) | 2 ligose |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Dažnai (30–79%) | 1 ligoje |
| NLRP1NLR family pyrin domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| NLRP12NLR family pyrin domain containing 12 | Dažnai (30–79%) | 1 ligoje |
| NPC1NPC intracellular cholesterol transporter 1 | Dažnai (30–79%) | 1 ligoje |
| NPC2NPC intracellular cholesterol transporter 2 | Dažnai (30–79%) | 1 ligoje |
| NPHP3nephrocystin 3 | Dažnai (30–79%) | 2 ligose |
| NRASNRAS proto-oncogene, GTPase | Dažnai (30–79%) | 2 ligose |
| NUDCD3NudC domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| PEPDpeptidase D | Dažnai (30–79%) | 2 ligose |
| PEX7peroxisomal biogenesis factor 7 | Dažnai (30–79%) | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Dažnai (30–79%) | 3 ligose |
| PIGMphosphatidylinositol glycan anchor biosynthesis class M | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 2 ligose |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Dažnai (30–79%) | 2 ligose |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Dažnai (30–79%) | 3 ligose |
| PRKCDprotein kinase C delta | Dažnai (30–79%) | 1 ligoje |
| PSMB10proteasome 20S subunit beta 10 | Dažnai (30–79%) | 1 ligoje |
| PSMB8proteasome 20S subunit beta 8 | Dažnai (30–79%) | 1 ligoje |
| PSMB9proteasome 20S subunit beta 9 | Dažnai (30–79%) | 1 ligoje |
| RAG2recombination activating 2 | Dažnai (30–79%) | 2 ligose |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| RFX5regulatory factor X5 | Dažnai (30–79%) | 1 ligoje |
| RINT1RAD50 interactor 1 | Dažnai (30–79%) | 1 ligoje |
| RIPK1receptor interacting serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Dažnai (30–79%) | 1 ligoje |
| RUNX1RUNX family transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SAMD9Lsterile alpha motif domain containing 9 like | Dažnai (30–79%) | 1 ligoje |
| SEMA4Dsemaphorin 4D | Dažnai (30–79%) | 1 ligoje |
| SH2D1ASH2 domain containing 1A | Dažnai (30–79%) | 1 ligoje |
| SHARPINSHANK associated RH domain interactor | Dažnai (30–79%) | 1 ligoje |
| SLC19A1solute carrier family 19 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC30A10solute carrier family 30 member 10 | Dažnai (30–79%) | 1 ligoje |
| SPTA1spectrin alpha, erythrocytic 1 | Dažnai (30–79%) | 2 ligose |
| STAT1signal transducer and activator of transcription 1 | Dažnai (30–79%) | 1 ligoje |
| STEAP3STEAP3 metalloreductase | Dažnai (30–79%) | 1 ligoje |
| STIM1stromal interaction molecule 1 | Dažnai (30–79%) | 1 ligoje |
| SYKspleen associated tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| TCF3transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| TCF4transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| TET2tet methylcytosine dioxygenase 2 | Dažnai (30–79%) | 4 ligose |
| THPOthrombopoietin | Dažnai (30–79%) | 2 ligose |
| TNFRSF11ATNF receptor superfamily member 11a | Dažnai (30–79%) | 1 ligoje |
| TNFRSF1ATNF receptor superfamily member 1A | Dažnai (30–79%) | 1 ligoje |
| TNFRSF1BTNF receptor superfamily member 1B | Dažnai (30–79%) | 2 ligose |
| TP53tumor protein p53 | Dažnai (30–79%) | 1 ligoje |
| TPP2tripeptidyl peptidase 2 | Dažnai (30–79%) | 1 ligoje |
| TRACT cell receptor alpha constant | Dažnai (30–79%) | 1 ligoje |
| TRNT1tRNA nucleotidyl transferase 1 | Dažnai (30–79%) | 1 ligoje |
| UMPSuridine monophosphate synthetase | Dažnai (30–79%) | 1 ligoje |
| UNC13Dunc-13 homolog D | Dažnai (30–79%) | 1 ligoje |
| USP53ubiquitin specific peptidase 53 | Dažnai (30–79%) | 1 ligoje |
| VPS33BVPS33B late endosome and lysosome associated | Dažnai (30–79%) | 1 ligoje |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Dažnai (30–79%) | 1 ligoje |
| YARS1tyrosyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Dažnai (30–79%) | 1 ligoje |
| ZFYVE19zinc finger FYVE-type containing 19 | Dažnai (30–79%) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Kartais (5–29%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| AGAaspartylglucosaminidase | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 2 ligose |
| ALAS25'-aminolevulinate synthase 2 | Kartais (5–29%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Kartais (5–29%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| ATRXATRX chromatin remodeler | Kartais (5–29%) | 1 ligoje |
| B4GALT1beta-1,4-galactosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Kartais (5–29%) | 1 ligoje |
| BMP6bone morphogenetic protein 6 | Kartais (5–29%) | 1 ligoje |
| C4Acomplement C4A (Chido/Rodgers blood group) | Kartais (5–29%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Kartais (5–29%) | 1 ligoje |
| CCR1C-C motif chemokine receptor 1 | Kartais (5–29%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Kartais (5–29%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Kartais (5–29%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Kartais (5–29%) | 1 ligoje |
| CYBAcytochrome b-245 alpha chain | Kartais (5–29%) | 2 ligose |
| CYBBcytochrome b-245 beta chain | Kartais (5–29%) | 2 ligose |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DHRSXdehydrogenase/reductase X-linked | Kartais (5–29%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Kartais (5–29%) | 1 ligoje |
| DNASE1L3deoxyribonuclease 1L3 | Kartais (5–29%) | 1 ligoje |
| EPB41erythrocyte membrane protein band 4.1 | Kartais (5–29%) | 2 ligose |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| GLIS3GLIS family zinc finger 3 | Kartais (5–29%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Kartais (5–29%) | 1 ligoje |
| GYPCglycophorin C (Gerbich blood group) | Kartais (5–29%) | 1 ligoje |
| HFEhomeostatic iron regulator | Kartais (5–29%) | 2 ligose |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Kartais (5–29%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Kartais (5–29%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 1 ligoje |
| HPGD15-hydroxyprostaglandin dehydrogenase | Kartais (5–29%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Kartais (5–29%) | 1 ligoje |
| IFNGR1interferon gamma receptor 1 | Kartais (5–29%) | 2 ligose |
| IL10interleukin 10 | Kartais (5–29%) | 1 ligoje |
| IL12Ainterleukin 12A | Kartais (5–29%) | 2 ligose |
| IL12A-AS1IL12A antisense RNA 1 | Kartais (5–29%) | 1 ligoje |
| IL12RB1interleukin 12 receptor subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| IL23Rinterleukin 23 receptor | Kartais (5–29%) | 1 ligoje |
| IL6interleukin 6 | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Kartais (5–29%) | 1 ligoje |
| IRF5interferon regulatory factor 5 | Kartais (5–29%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 2 ligose |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Kartais (5–29%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Kartais (5–29%) | 1 ligoje |
| KITKIT proto-oncogene, receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| KLRC4killer cell lectin like receptor C4 | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| KPTNkaptin, actin binding protein | Kartais (5–29%) | 1 ligoje |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Kartais (5–29%) | 1 ligoje |
| LCATlecithin-cholesterol acyltransferase | Kartais (5–29%) | 1 ligoje |
| MCTS1MCTS1 re-initiation and release factor | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| MEFVMEFV innate immunity regulator, pyrin | Kartais (5–29%) | 3 ligose |
| MICU1mitochondrial calcium uptake 1 | Kartais (5–29%) | 1 ligoje |
| MIFmacrophage migration inhibitory factor | Kartais (5–29%) | 1 ligoje |
| MMEL1membrane metalloendopeptidase like 1 | Kartais (5–29%) | 1 ligoje |
| MYD88MYD88 innate immune signal transduction adaptor | Kartais (5–29%) | 1 ligoje |
| MYO5Bmyosin VB | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 2 ligose |
| NCF2neutrophil cytosolic factor 2 | Kartais (5–29%) | 2 ligose |
| NCF4neutrophil cytosolic factor 4 | Kartais (5–29%) | 1 ligoje |
| NEK8NIMA related kinase 8 | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 1 ligoje |
| NHP2NHP2 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NOD2nucleotide binding oligomerization domain containing 2 | Kartais (5–29%) | 1 ligoje |
| NOP10NOP10 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NOTCH1notch receptor 1 | Kartais (5–29%) | 1 ligoje |
| NOTCH2notch receptor 2 | Kartais (5–29%) | 1 ligoje |
| NPM1nucleophosmin 1 | Kartais (5–29%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Kartais (5–29%) | 1 ligoje |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Kartais (5–29%) | 2 ligose |
| PHKBphosphorylase kinase regulatory subunit beta | Kartais (5–29%) | 2 ligose |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| POU2AF1POU class 2 homeobox associating factor 1 | Kartais (5–29%) | 1 ligoje |
| PPARGperoxisome proliferator activated receptor gamma | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 2 ligose |
| RHAGRh associated glycoprotein | Kartais (5–29%) | 2 ligose |
| RORCRAR related orphan receptor C | Kartais (5–29%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Kartais (5–29%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Kartais (5–29%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Kartais (5–29%) | 1 ligoje |
| SAA1serum amyloid A1 | 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 |
| SKIC3SKI3 subunit of superkiller complex | Kartais (5–29%) | 2 ligose |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Kartais (5–29%) | 1 ligoje |
| SNX14sorting nexin 14 | Kartais (5–29%) | 1 ligoje |
| SOCS1suppressor of cytokine signaling 1 | Kartais (5–29%) | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Kartais (5–29%) | 1 ligoje |
| SPIBSpi-B transcription factor | Kartais (5–29%) | 1 ligoje |
| SRSF2serine and arginine rich splicing factor 2 | Kartais (5–29%) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 2 ligose |
| TBXAS1thromboxane A synthase 1 | Kartais (5–29%) | 1 ligoje |
| TERCtelomerase RNA component | Kartais (5–29%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Kartais (5–29%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Kartais (5–29%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Kartais (5–29%) | 1 ligoje |
| TLR4toll like receptor 4 | Kartais (5–29%) | 1 ligoje |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 2 ligose |
| TNFSF15TNF superfamily member 15 | Kartais (5–29%) | 1 ligoje |
| TNPO3transportin 3 | Kartais (5–29%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Kartais (5–29%) | 1 ligoje |
| TYMSthymidylate synthetase | Kartais (5–29%) | 1 ligoje |
| UBAC2UBA domain containing 2 | Kartais (5–29%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Kartais (5–29%) | 1 ligoje |
| URODuroporphyrinogen decarboxylase | Kartais (5–29%) | 1 ligoje |
| VPS13Avacuolar protein sorting 13 homolog A | Kartais (5–29%) | 1 ligoje |
| WDR1WD repeat domain 1 | Kartais (5–29%) | 1 ligoje |
| WRAP53WD repeat containing antisense to TP53 | Kartais (5–29%) | 1 ligoje |
| DLL4delta like canonical Notch ligand 4 | Retai (1–4 %) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Retai (1–4 %) | 2 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Retai (1–4 %) | 2 ligose |
| FOXP3forkhead box P3 | Retai (1–4 %) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Retai (1–4 %) | 2 ligose |
| HAVCR2hepatitis A virus cellular receptor 2 | Retai (1–4 %) | 1 ligoje |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Retai (1–4 %) | 2 ligose |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Retai (1–4 %) | 1 ligoje |
| SGSHN-sulfoglucosamine sulfohydrolase | Retai (1–4 %) | 1 ligoje |
| SKIC2SKI2 subunit of superkiller complex | Retai (1–4 %) | 1 ligoje |
| ABCA1ATP binding cassette subfamily A member 1 | Neužfiksuota | 1 ligoje |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Neužfiksuota | 1 ligoje |
| AKR1D1aldo-keto reductase family 1 member D1 | Neužfiksuota | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Neužfiksuota | 1 ligoje |
| BACH2BACH transcriptional regulator 2 | Neužfiksuota | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| BTDbiotinidase | Neužfiksuota | 1 ligoje |
| BTNL2butyrophilin like 2 | Neužfiksuota | 1 ligoje |
| CAV1caveolin 1 | Neužfiksuota | 1 ligoje |
| CD19CD19 molecule | Neužfiksuota | 1 ligoje |
| CD40LGCD40 ligand | Neužfiksuota | 1 ligoje |
| CDAN1codanin 1 | Neužfiksuota | 1 ligoje |
| CDIN1CDAN1 interacting nuclease 1 | Neužfiksuota | 1 ligoje |
| CPOXcoproporphyrinogen oxidase | Neužfiksuota | 2 ligose |
| CTNScystinosin, lysosomal cystine transporter | Neužfiksuota | 1 ligoje |
| DDRGK1DDRGK domain containing 1 | Neužfiksuota | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Neužfiksuota | 1 ligoje |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Neužfiksuota | 1 ligoje |
| EPORerythropoietin receptor | Neužfiksuota | 1 ligoje |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Neužfiksuota | 1 ligoje |
| FGAfibrinogen alpha chain | Neužfiksuota | 1 ligoje |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Neužfiksuota | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Neužfiksuota | 1 ligoje |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Neužfiksuota | 1 ligoje |
| GAAalpha glucosidase | Neužfiksuota | 1 ligoje |
| GALEUDP-galactose-4-epimerase | Neužfiksuota | 1 ligoje |
| GLRX5glutaredoxin 5 | Neužfiksuota | 1 ligoje |
| GP1BAglycoprotein Ib platelet subunit alpha | Neužfiksuota | 1 ligoje |
| HAMPhepcidin antimicrobial peptide | Neužfiksuota | 1 ligoje |
| HJVhemojuvelin BMP co-receptor | Neužfiksuota | 1 ligoje |
| HK1hexokinase 1 | Neužfiksuota | 1 ligoje |
| ICOSinducible T cell costimulator | Neužfiksuota | 1 ligoje |
| IFNGinterferon gamma | Neužfiksuota | 1 ligoje |
| IFT172intraflagellar transport 172 | Neužfiksuota | 1 ligoje |
| IL1RNinterleukin 1 receptor antagonist | Neužfiksuota | 1 ligoje |
| IL2RBinterleukin 2 receptor subunit beta | Neužfiksuota | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Neužfiksuota | 1 ligoje |
| LBRlamin B receptor | Neužfiksuota | 1 ligoje |
| LPLlipoprotein lipase | Neužfiksuota | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Neužfiksuota | 1 ligoje |
| MCM4minichromosome maintenance complex component 4 | Neužfiksuota | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Neužfiksuota | 1 ligoje |
| NAGLUN-acetyl-alpha-glucosaminidase | Neužfiksuota | 1 ligoje |
| OCLNoccludin | Neužfiksuota | 1 ligoje |
| PDGFRAplatelet derived growth factor receptor alpha | Neužfiksuota | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Neužfiksuota | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Neužfiksuota | 1 ligoje |
| PNPpurine nucleoside phosphorylase | Neužfiksuota | 1 ligoje |
| PSMB4proteasome 20S subunit beta 4 | Neužfiksuota | 1 ligoje |
| RHDRh blood group D antigen | Neužfiksuota | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Neužfiksuota | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Neužfiksuota | 1 ligoje |
| SEC23BSEC23 homolog B, COPII component | Neužfiksuota | 1 ligoje |
| SLC17A5solute carrier family 17 member 5 | Neužfiksuota | 1 ligoje |
| SLC39A4solute carrier family 39 member 4 | Neužfiksuota | 1 ligoje |
| SLC7A7solute carrier family 7 member 7 | Neužfiksuota | 1 ligoje |
| TALDO1transaldolase 1 | Neužfiksuota | 1 ligoje |
| TNFRSF13BTNF receptor superfamily member 13B | Neužfiksuota | 1 ligoje |
| TNFRSF13CTNF receptor superfamily member 13C | Neužfiksuota | 1 ligoje |
| TNFRSF4TNF receptor superfamily member 4 | Neužfiksuota | 1 ligoje |
| TPI1triosephosphate isomerase 1 | Neužfiksuota | 1 ligoje |
| VMA22vacuolar ATPase assembly factor VMA22 | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
| ZAP70zeta chain of T cell receptor associated protein kinase 70 | 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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