Cecha
Increased spleen size
Nazwa kliniczna: Splenomegaly
Abnormal increased size of the spleen.
Podsumowanie
- Znana także jako
- Large spleen
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test442 genów powiązanych z Increased spleen size
Zmiany w tych genach powodują rzadkie choroby, w których występuje Increased spleen size. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCB11ATP binding cassette subfamily B member 11 | Zawsze | W 2 chorobach |
| ABCB4ATP binding cassette subfamily B member 4 | Zawsze | W 1 chorobie |
| ABCD3ATP binding cassette subfamily D member 3 | Zawsze | W 1 chorobie |
| ABCG8ATP binding cassette subfamily G member 8 | Zawsze | W 2 chorobach |
| ALDOAaldolase, fructose-bisphosphate A | Zawsze | W 1 chorobie |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Zawsze | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Zawsze | W 1 chorobie |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Zawsze | W 1 chorobie |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Zawsze | W 1 chorobie |
| APOC2apolipoprotein C2 | Zawsze | W 1 chorobie |
| APOEapolipoprotein E | Zawsze | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Zawsze | W 1 chorobie |
| ARPC5actin related protein 2/3 complex subunit 5 | Zawsze | W 1 chorobie |
| ATP7BATPase copper transporting beta | Zawsze | W 2 chorobach |
| ATP8B1ATPase phospholipid transporting 8B1 | Zawsze | W 2 chorobach |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Zawsze | W 1 chorobie |
| CALRcalreticulin | Zawsze | W 5 chorobach |
| CARD11caspase recruitment domain family member 11 | Zawsze | W 1 chorobie |
| CASP10caspase 10 | Zawsze | W 2 chorobach |
| CASP8caspase 8 | Zawsze | W 1 chorobie |
| CD27CD27 molecule | Zawsze | W 1 chorobie |
| COG7component of oligomeric golgi complex 7 | Zawsze | W 1 chorobie |
| CR2complement C3d receptor 2 | Zawsze | W 2 chorobach |
| CSF3Rcolony stimulating factor 3 receptor | Zawsze | W 1 chorobie |
| CYBC1cytochrome b-245 chaperone 1 | Zawsze | W 2 chorobach |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Zawsze | W 1 chorobie |
| DCDC2doublecortin domain containing 2 | Zawsze | W 2 chorobach |
| DCLRE1CDNA cross-link repair 1C | Zawsze | W 3 chorobach |
| DGUOKdeoxyguanosine kinase | Zawsze | W 2 chorobach |
| DHCR77-dehydrocholesterol reductase | Zawsze | W 1 chorobie |
| EPB42erythrocyte membrane protein band 4.2 | Zawsze | W 2 chorobach |
| F8coagulation factor VIII | Zawsze | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Zawsze | W 9 chorobach |
| GIMAP5GTPase, IMAP family member 5 | Zawsze | W 1 chorobie |
| GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Zawsze | W 1 chorobie |
| HBBhemoglobin subunit beta | Zawsze | W 10 chorobach |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Zawsze | W 1 chorobie |
| IDSiduronate 2-sulfatase | Zawsze | W 1 chorobie |
| IRF8interferon regulatory factor 8 | Zawsze | W 1 chorobie |
| ITKIL2 inducible T cell kinase | Zawsze | W 1 chorobie |
Pokaż jeszcze 402 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Zawsze | W 1 chorobie |
| JAK2Janus kinase 2 | Zawsze | W 8 chorobach |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Zawsze | W 2 chorobach |
| KLF1KLF transcription factor 1 | Zawsze | W 4 chorobach |
| KRASKRas proto-oncogene, GTPase | Zawsze | W 1 chorobie |
| LATlinker for activation of T cells | Zawsze | W 1 chorobie |
| LIPAlipase A, lysosomal acid type | Zawsze | W 4 chorobach |
| LMNAlamin A/C | Zawsze | W 3 chorobach |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Zawsze | W 1 chorobie |
| MAGT1magnesium transporter 1 | Zawsze | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Zawsze | W 2 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Zawsze | W 1 chorobie |
| MPLMPL proto-oncogene, thrombopoietin receptor | Zawsze | W 4 chorobach |
| NFKBIANFKB inhibitor alpha | Zawsze | W 1 chorobie |
| NHEJ1non-homologous end joining factor 1 | Zawsze | W 1 chorobie |
| NLRC4NLR family CARD domain containing 4 | Zawsze | W 1 chorobie |
| OAS12'-5'-oligoadenylate synthetase 1 | Zawsze | W 1 chorobie |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Zawsze | W 2 chorobach |
| PDCD1programmed cell death 1 | Zawsze | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 2 chorobach |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Zawsze | W 1 chorobie |
| PKLRpyruvate kinase L/R | Zawsze | W 2 chorobach |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Zawsze | W 1 chorobie |
| POLD3DNA polymerase delta 3, accessory subunit | Zawsze | W 1 chorobie |
| POT1protection of telomeres 1 | Zawsze | W 1 chorobie |
| PSAPprosaposin | Zawsze | W 3 chorobach |
| PSKH1protein serine kinase H1 | Zawsze | W 1 chorobie |
| PSMG2proteasome assembly chaperone 2 | Zawsze | W 1 chorobie |
| PTCRApre T cell antigen receptor alpha | Zawsze | W 1 chorobie |
| RASGRP1RAS guanyl releasing protein 1 | Zawsze | W 1 chorobie |
| RC3H1ring finger and CCCH-type domains 1 | Zawsze | W 1 chorobie |
| RFXAPregulatory factor X associated protein | Zawsze | W 1 chorobie |
| RNF31ring finger protein 31 | Zawsze | W 1 chorobie |
| SCYL1SCY1 like pseudokinase 1 | Zawsze | W 1 chorobie |
| SERPINA1serpin family A member 1 | Zawsze | W 1 chorobie |
| SH2B3SH2B adaptor protein 3 | Zawsze | W 4 chorobach |
| SLC2A1solute carrier family 2 member 1 | Zawsze | W 2 chorobach |
| SLC37A4solute carrier family 37 member 4 | Zawsze | W 2 chorobach |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Zawsze | W 5 chorobach |
| SPIN4spindlin family member 4 | Zawsze | W 1 chorobie |
| SPTBspectrin beta, erythrocytic | Zawsze | W 3 chorobach |
| STX11syntaxin 11 | Zawsze | W 2 chorobach |
| STXBP2syntaxin binding protein 2 | Zawsze | W 2 chorobach |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Zawsze | W 2 chorobach |
| TNFRSF9TNF receptor superfamily member 9 | Zawsze | W 1 chorobie |
| TRAF3TNF receptor associated factor 3 | Zawsze | W 1 chorobie |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Zawsze | W 1 chorobie |
| UROSuroporphyrinogen III synthase | Zawsze | W 2 chorobach |
| VPS45vacuolar protein sorting 45 homolog | Zawsze | W 1 chorobie |
| WASWASP actin nucleation promoting factor | Zawsze | W 1 chorobie |
| ADA2adenosine deaminase 2 | Bardzo często (80–99%) | W 1 chorobie |
| ALPK1alpha kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| ARSBarylsulfatase B | Bardzo często (80–99%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Bardzo często (80–99%) | W 1 chorobie |
| CASRcalcium sensing receptor | Bardzo często (80–99%) | W 2 chorobach |
| CLCN7Cl-/H+ antiporter 7 | Bardzo często (80–99%) | W 3 chorobach |
| CLDN1claudin 1 | Bardzo często (80–99%) | W 2 chorobach |
| F5coagulation factor V | Bardzo często (80–99%) | W 1 chorobie |
| FASFas cell surface death receptor | Bardzo często (80–99%) | W 3 chorobach |
| FASLGFas ligand | Bardzo często (80–99%) | W 2 chorobach |
| G6PDglucose-6-phosphate dehydrogenase | Bardzo często (80–99%) | W 1 chorobie |
| GATA1GATA binding protein 1 | Bardzo często (80–99%) | W 3 chorobach |
| GLB1galactosidase beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| GPC3glypican 3 | Bardzo często (80–99%) | W 2 chorobach |
| GPC4glypican 4 | Bardzo często (80–99%) | W 1 chorobie |
| HBG1hemoglobin subunit gamma 1 | Bardzo często (80–99%) | W 2 chorobach |
| HBG2hemoglobin subunit gamma 2 | Bardzo często (80–99%) | W 2 chorobach |
| IDUAalpha-L-iduronidase | Bardzo często (80–99%) | W 5 chorobach |
| LRBALPS responsive beige-like anchor protein | Bardzo często (80–99%) | W 1 chorobie |
| MVKmevalonate kinase | Bardzo często (80–99%) | W 2 chorobach |
| NEU1neuraminidase 1 | Bardzo często (80–99%) | W 2 chorobach |
| NLRP3NLR family pyrin domain containing 3 | Bardzo często (80–99%) | W 2 chorobach |
| OTCornithine transcarbamylase | Bardzo często (80–99%) | W 1 chorobie |
| PRF1perforin 1 | Bardzo często (80–99%) | W 2 chorobach |
| RAB27ARAB27A, member RAS oncogene family | Bardzo często (80–99%) | W 1 chorobie |
| RAG1recombination activating 1 | Bardzo często (80–99%) | W 3 chorobach |
| SCARB2scavenger receptor class B member 2 | Bardzo często (80–99%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Bardzo często (80–99%) | W 3 chorobach |
| SNX10sorting nexin 10 | Bardzo często (80–99%) | W 2 chorobach |
| SUMF1sulfatase modifying factor 1 | Bardzo często (80–99%) | W 2 chorobach |
| TLR8toll like receptor 8 | Bardzo często (80–99%) | W 1 chorobie |
| TNFSF11TNF superfamily member 11 | Bardzo często (80–99%) | W 1 chorobie |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Bardzo często (80–99%) | W 1 chorobie |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Bardzo często (80–99%) | W 2 chorobach |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Bardzo często (80–99%) | W 1 chorobie |
| XIAPX-linked inhibitor of apoptosis | Bardzo często (80–99%) | W 3 chorobach |
| ABCG5ATP binding cassette subfamily G member 5 | Często (30–79%) | W 1 chorobie |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Często (30–79%) | W 1 chorobie |
| ADAadenosine deaminase | Często (30–79%) | W 2 chorobach |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Często (30–79%) | W 1 chorobie |
| AFF4ALF transcription elongation factor 4 | Często (30–79%) | W 1 chorobie |
| ANK1ankyrin 1 | Często (30–79%) | W 3 chorobach |
| ATMATM serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Często (30–79%) | W 1 chorobie |
| BCL2BCL2 apoptosis regulator | Często (30–79%) | W 1 chorobie |
| BCL6BCL6 transcription repressor | Często (30–79%) | W 1 chorobie |
| BCRBCR activator of RhoGEF and GTPase | Często (30–79%) | W 1 chorobie |
| CAVIN1caveolae associated protein 1 | Często (30–79%) | W 1 chorobie |
| CBLCbl proto-oncogene | Często (30–79%) | W 1 chorobie |
| CCBE1collagen and calcium binding EGF domains 1 | Często (30–79%) | W 1 chorobie |
| CCDC47coiled-coil domain containing 47 | Często (30–79%) | W 1 chorobie |
| CCND1cyclin D1 | Często (30–79%) | W 2 chorobach |
| CD28CD28 molecule | Często (30–79%) | W 2 chorobach |
| CD4CD4 molecule | Często (30–79%) | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 1 chorobie |
| COG6component of oligomeric golgi complex 6 | Często (30–79%) | W 1 chorobie |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Często (30–79%) | W 1 chorobie |
| COX4I2cytochrome c oxidase subunit 4I2 | Często (30–79%) | W 1 chorobie |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Często (30–79%) | W 4 chorobach |
| DOCK11dedicator of cytokinesis 11 | Często (30–79%) | W 1 chorobie |
| DZIP1LDAZ interacting zinc finger protein 1 like | Często (30–79%) | W 1 chorobie |
| FAHfumarylacetoacetate hydrolase | Często (30–79%) | W 2 chorobach |
| FAT4FAT atypical cadherin 4 | Często (30–79%) | W 1 chorobie |
| FCHO1FCH and mu domain containing endocytic adaptor 1 | Często (30–79%) | W 1 chorobie |
| FERMT3FERM domain containing kindlin 3 | Często (30–79%) | W 1 chorobie |
| FOCADfocadhesin | Często (30–79%) | W 1 chorobie |
| GATA2GATA binding protein 2 | Często (30–79%) | W 1 chorobie |
| GEMIN4gem nuclear organelle associated protein 4 | Często (30–79%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Często (30–79%) | W 1 chorobie |
| GNSglucosamine (N-acetyl)-6-sulfatase | Często (30–79%) | W 1 chorobie |
| GPD1glycerol-3-phosphate dehydrogenase 1 | Często (30–79%) | W 1 chorobie |
| GPIglucose-6-phosphate isomerase | Często (30–79%) | W 2 chorobach |
| GPR35G protein-coupled receptor 35 | Często (30–79%) | W 1 chorobie |
| GUSBglucuronidase beta | Często (30–79%) | W 2 chorobach |
| HBA1hemoglobin subunit alpha 1 | Często (30–79%) | W 2 chorobach |
| HBA2hemoglobin subunit alpha 2 | Często (30–79%) | W 2 chorobach |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Często (30–79%) | W 3 chorobach |
| HMBShydroxymethylbilane synthase | Często (30–79%) | W 1 chorobie |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Często (30–79%) | W 2 chorobach |
| IFIH1interferon induced with helicase C domain 1 | Często (30–79%) | W 1 chorobie |
| IFT56intraflagellar transport 56 | Często (30–79%) | W 1 chorobie |
| IGHimmunoglobulin heavy locus | Często (30–79%) | W 2 chorobach |
| IKZF3IKAROS family zinc finger 3 | Często (30–79%) | W 1 chorobie |
| IL2RGinterleukin 2 receptor subunit gamma | Często (30–79%) | W 1 chorobie |
| IL7Rinterleukin 7 receptor | Często (30–79%) | W 2 chorobach |
| INSRinsulin receptor | Często (30–79%) | W 1 chorobie |
| IRF1interferon regulatory factor 1 | Często (30–79%) | W 1 chorobie |
| IRF4interferon regulatory factor 4 | Często (30–79%) | W 2 chorobach |
| LPIN2lipin 2 | Często (30–79%) | W 1 chorobie |
| LYSTlysosomal trafficking regulator | Często (30–79%) | W 2 chorobach |
| MMUTmethylmalonyl-CoA mutase | Często (30–79%) | W 1 chorobie |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Często (30–79%) | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Często (30–79%) | W 1 chorobie |
| MST1macrophage stimulating 1 | Często (30–79%) | W 1 chorobie |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Często (30–79%) | W 1 chorobie |
| NBEAL2neurobeachin like 2 | Często (30–79%) | W 2 chorobach |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Często (30–79%) | W 1 chorobie |
| NLRP1NLR family pyrin domain containing 1 | Często (30–79%) | W 1 chorobie |
| NLRP12NLR family pyrin domain containing 12 | Często (30–79%) | W 1 chorobie |
| NPC1NPC intracellular cholesterol transporter 1 | Często (30–79%) | W 1 chorobie |
| NPC2NPC intracellular cholesterol transporter 2 | Często (30–79%) | W 1 chorobie |
| NPHP3nephrocystin 3 | Często (30–79%) | W 2 chorobach |
| NRASNRAS proto-oncogene, GTPase | Często (30–79%) | W 2 chorobach |
| NUDCD3NudC domain containing 3 | Często (30–79%) | W 1 chorobie |
| PEPDpeptidase D | Często (30–79%) | W 2 chorobach |
| PEX7peroxisomal biogenesis factor 7 | Często (30–79%) | W 1 chorobie |
| PHYHphytanoyl-CoA 2-hydroxylase | Często (30–79%) | W 1 chorobie |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Często (30–79%) | W 3 chorobach |
| PIGMphosphatidylinositol glycan anchor biosynthesis class M | Często (30–79%) | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Często (30–79%) | W 2 chorobach |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Często (30–79%) | W 2 chorobach |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Często (30–79%) | W 3 chorobach |
| PRKCDprotein kinase C delta | Często (30–79%) | W 1 chorobie |
| PSMB10proteasome 20S subunit beta 10 | Często (30–79%) | W 1 chorobie |
| PSMB8proteasome 20S subunit beta 8 | Często (30–79%) | W 1 chorobie |
| PSMB9proteasome 20S subunit beta 9 | Często (30–79%) | W 1 chorobie |
| RAG2recombination activating 2 | Często (30–79%) | W 2 chorobach |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Często (30–79%) | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Często (30–79%) | W 1 chorobie |
| RFX5regulatory factor X5 | Często (30–79%) | W 1 chorobie |
| RINT1RAD50 interactor 1 | Często (30–79%) | W 1 chorobie |
| RIPK1receptor interacting serine/threonine kinase 1 | Często (30–79%) | W 1 chorobie |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Często (30–79%) | W 1 chorobie |
| RUNX1RUNX family transcription factor 1 | Często (30–79%) | W 1 chorobie |
| SAMD9Lsterile alpha motif domain containing 9 like | Często (30–79%) | W 1 chorobie |
| SEMA4Dsemaphorin 4D | Często (30–79%) | W 1 chorobie |
| SH2D1ASH2 domain containing 1A | Często (30–79%) | W 1 chorobie |
| SHARPINSHANK associated RH domain interactor | Często (30–79%) | W 1 chorobie |
| SLC19A1solute carrier family 19 member 1 | Często (30–79%) | W 1 chorobie |
| SLC29A3solute carrier family 29 member 3 | Często (30–79%) | W 1 chorobie |
| SLC30A10solute carrier family 30 member 10 | Często (30–79%) | W 1 chorobie |
| SPTA1spectrin alpha, erythrocytic 1 | Często (30–79%) | W 2 chorobach |
| STAT1signal transducer and activator of transcription 1 | Często (30–79%) | W 1 chorobie |
| STEAP3STEAP3 metalloreductase | Często (30–79%) | W 1 chorobie |
| STIM1stromal interaction molecule 1 | Często (30–79%) | W 1 chorobie |
| SYKspleen associated tyrosine kinase | Często (30–79%) | W 1 chorobie |
| TCF3transcription factor 3 | Często (30–79%) | W 1 chorobie |
| TCF4transcription factor 4 | Często (30–79%) | W 1 chorobie |
| TET2tet methylcytosine dioxygenase 2 | Często (30–79%) | W 4 chorobach |
| THPOthrombopoietin | Często (30–79%) | W 2 chorobach |
| TNFRSF11ATNF receptor superfamily member 11a | Często (30–79%) | W 1 chorobie |
| TNFRSF1ATNF receptor superfamily member 1A | Często (30–79%) | W 1 chorobie |
| TNFRSF1BTNF receptor superfamily member 1B | Często (30–79%) | W 2 chorobach |
| TP53tumor protein p53 | Często (30–79%) | W 1 chorobie |
| TPP2tripeptidyl peptidase 2 | Często (30–79%) | W 1 chorobie |
| TRACT cell receptor alpha constant | Często (30–79%) | W 1 chorobie |
| TRNT1tRNA nucleotidyl transferase 1 | Często (30–79%) | W 1 chorobie |
| UMPSuridine monophosphate synthetase | Często (30–79%) | W 1 chorobie |
| UNC13Dunc-13 homolog D | Często (30–79%) | W 1 chorobie |
| USP53ubiquitin specific peptidase 53 | Często (30–79%) | W 1 chorobie |
| VPS33BVPS33B late endosome and lysosome associated | Często (30–79%) | W 1 chorobie |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Często (30–79%) | W 1 chorobie |
| YARS1tyrosyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| YME1L1YME1 like 1 ATPase | Często (30–79%) | W 1 chorobie |
| ZFYVE19zinc finger FYVE-type containing 19 | Często (30–79%) | W 1 chorobie |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Czasami (5–29%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Czasami (5–29%) | W 1 chorobie |
| AGAaspartylglucosaminidase | Czasami (5–29%) | W 1 chorobie |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 2 chorobach |
| ALAS25'-aminolevulinate synthase 2 | Czasami (5–29%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Czasami (5–29%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| ASXL1ASXL transcriptional regulator 1 | Czasami (5–29%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 1 chorobie |
| ATRXATRX chromatin remodeler | Czasami (5–29%) | W 1 chorobie |
| B4GALT1beta-1,4-galactosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| BMP6bone morphogenetic protein 6 | Czasami (5–29%) | W 1 chorobie |
| C4Acomplement C4A (Chido/Rodgers blood group) | Czasami (5–29%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Czasami (5–29%) | W 1 chorobie |
| CCR1C-C motif chemokine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Czasami (5–29%) | W 1 chorobie |
| CILK1ciliogenesis associated kinase 1 | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| COG4component of oligomeric golgi complex 4 | Czasami (5–29%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| CSPP1centrosome and spindle pole associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CTC1CST telomere replication complex component 1 | Czasami (5–29%) | W 1 chorobie |
| CYBAcytochrome b-245 alpha chain | Czasami (5–29%) | W 2 chorobach |
| CYBBcytochrome b-245 beta chain | Czasami (5–29%) | W 2 chorobach |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Czasami (5–29%) | W 1 chorobie |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Czasami (5–29%) | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Czasami (5–29%) | W 1 chorobie |
| DHRSXdehydrogenase/reductase X-linked | Czasami (5–29%) | W 1 chorobie |
| DKC1dyskerin pseudouridine synthase 1 | Czasami (5–29%) | W 1 chorobie |
| DNASE1L3deoxyribonuclease 1L3 | Czasami (5–29%) | W 1 chorobie |
| EPB41erythrocyte membrane protein band 4.1 | Czasami (5–29%) | W 2 chorobach |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| GLIS3GLIS family zinc finger 3 | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| GYPCglycophorin C (Gerbich blood group) | Czasami (5–29%) | W 1 chorobie |
| HFEhomeostatic iron regulator | Czasami (5–29%) | W 2 chorobach |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Czasami (5–29%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Czasami (5–29%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Czasami (5–29%) | W 1 chorobie |
| HPGD15-hydroxyprostaglandin dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Czasami (5–29%) | W 1 chorobie |
| IFNGR1interferon gamma receptor 1 | Czasami (5–29%) | W 2 chorobach |
| IL10interleukin 10 | Czasami (5–29%) | W 1 chorobie |
| IL12Ainterleukin 12A | Czasami (5–29%) | W 2 chorobach |
| IL12A-AS1IL12A antisense RNA 1 | Czasami (5–29%) | W 1 chorobie |
| IL12RB1interleukin 12 receptor subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| IL23Rinterleukin 23 receptor | Czasami (5–29%) | W 1 chorobie |
| IL6interleukin 6 | Czasami (5–29%) | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Czasami (5–29%) | W 1 chorobie |
| INPPL1inositol polyphosphate phosphatase like 1 | Czasami (5–29%) | W 1 chorobie |
| IRF5interferon regulatory factor 5 | Czasami (5–29%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Czasami (5–29%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 2 chorobach |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Czasami (5–29%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Czasami (5–29%) | W 1 chorobie |
| KITKIT proto-oncogene, receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| KLRC4killer cell lectin like receptor C4 | Czasami (5–29%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Czasami (5–29%) | W 1 chorobie |
| KPTNkaptin, actin binding protein | Czasami (5–29%) | W 1 chorobie |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Czasami (5–29%) | W 1 chorobie |
| LCATlecithin-cholesterol acyltransferase | Czasami (5–29%) | W 1 chorobie |
| MCTS1MCTS1 re-initiation and release factor | Czasami (5–29%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Czasami (5–29%) | W 1 chorobie |
| MEFVMEFV innate immunity regulator, pyrin | Czasami (5–29%) | W 3 chorobach |
| MICU1mitochondrial calcium uptake 1 | Czasami (5–29%) | W 1 chorobie |
| MIFmacrophage migration inhibitory factor | Czasami (5–29%) | W 1 chorobie |
| MMEL1membrane metalloendopeptidase like 1 | Czasami (5–29%) | W 1 chorobie |
| MYD88MYD88 innate immune signal transduction adaptor | Czasami (5–29%) | W 1 chorobie |
| MYO5Bmyosin VB | Czasami (5–29%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Czasami (5–29%) | W 2 chorobach |
| NCF2neutrophil cytosolic factor 2 | Czasami (5–29%) | W 2 chorobach |
| NCF4neutrophil cytosolic factor 4 | Czasami (5–29%) | W 1 chorobie |
| NEK8NIMA related kinase 8 | Czasami (5–29%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Czasami (5–29%) | W 1 chorobie |
| NHP2NHP2 ribonucleoprotein | Czasami (5–29%) | W 1 chorobie |
| NOD2nucleotide binding oligomerization domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| NOP10NOP10 ribonucleoprotein | Czasami (5–29%) | W 1 chorobie |
| NOTCH1notch receptor 1 | Czasami (5–29%) | W 1 chorobie |
| NOTCH2notch receptor 2 | Czasami (5–29%) | W 1 chorobie |
| NPM1nucleophosmin 1 | Czasami (5–29%) | W 1 chorobie |
| PARNpoly(A)-specific ribonuclease | Czasami (5–29%) | W 1 chorobie |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Czasami (5–29%) | W 2 chorobach |
| PHKBphosphorylase kinase regulatory subunit beta | Czasami (5–29%) | W 2 chorobach |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| POU2AF1POU class 2 homeobox associating factor 1 | Czasami (5–29%) | W 1 chorobie |
| PPARGperoxisome proliferator activated receptor gamma | Czasami (5–29%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Czasami (5–29%) | W 2 chorobach |
| RHAGRh associated glycoprotein | Czasami (5–29%) | W 2 chorobach |
| RORCRAR related orphan receptor C | Czasami (5–29%) | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Czasami (5–29%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| RTEL1regulator of telomere elongation helicase 1 | Czasami (5–29%) | W 1 chorobie |
| SAA1serum amyloid A1 | Czasami (5–29%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SF3B1splicing factor 3b subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Czasami (5–29%) | W 2 chorobach |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Czasami (5–29%) | W 1 chorobie |
| SNX14sorting nexin 14 | Czasami (5–29%) | W 1 chorobie |
| SOCS1suppressor of cytokine signaling 1 | Czasami (5–29%) | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Czasami (5–29%) | W 1 chorobie |
| SPIBSpi-B transcription factor | Czasami (5–29%) | W 1 chorobie |
| SRSF2serine and arginine rich splicing factor 2 | Czasami (5–29%) | W 1 chorobie |
| STAT4signal transducer and activator of transcription 4 | Czasami (5–29%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 2 chorobach |
| TBXAS1thromboxane A synthase 1 | Czasami (5–29%) | W 1 chorobie |
| TERCtelomerase RNA component | Czasami (5–29%) | W 1 chorobie |
| TERTtelomerase reverse transcriptase | Czasami (5–29%) | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Czasami (5–29%) | W 1 chorobie |
| TINF2TERF1 interacting nuclear factor 2 | Czasami (5–29%) | W 1 chorobie |
| TLR4toll like receptor 4 | Czasami (5–29%) | W 1 chorobie |
| TMEM67transmembrane protein 67 | Czasami (5–29%) | W 2 chorobach |
| TNFSF15TNF superfamily member 15 | Czasami (5–29%) | W 1 chorobie |
| TNPO3transportin 3 | Czasami (5–29%) | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Czasami (5–29%) | W 1 chorobie |
| TYMSthymidylate synthetase | Czasami (5–29%) | W 1 chorobie |
| UBAC2UBA domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| URODuroporphyrinogen decarboxylase | Czasami (5–29%) | W 1 chorobie |
| VPS13Avacuolar protein sorting 13 homolog A | Czasami (5–29%) | W 1 chorobie |
| WDR1WD repeat domain 1 | Czasami (5–29%) | W 1 chorobie |
| WRAP53WD repeat containing antisense to TP53 | Czasami (5–29%) | W 1 chorobie |
| DLL4delta like canonical Notch ligand 4 | Rzadko (1–4%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Rzadko (1–4%) | W 2 chorobach |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Rzadko (1–4%) | W 2 chorobach |
| FOXP3forkhead box P3 | Rzadko (1–4%) | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Rzadko (1–4%) | W 2 chorobach |
| HAVCR2hepatitis A virus cellular receptor 2 | Rzadko (1–4%) | W 1 chorobie |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Rzadko (1–4%) | W 2 chorobach |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Rzadko (1–4%) | W 1 chorobie |
| SGSHN-sulfoglucosamine sulfohydrolase | Rzadko (1–4%) | W 1 chorobie |
| SKIC2SKI2 subunit of superkiller complex | Rzadko (1–4%) | W 1 chorobie |
| ABCA1ATP binding cassette subfamily A member 1 | Nie odnotowano | W 1 chorobie |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Nie odnotowano | W 1 chorobie |
| AKR1D1aldo-keto reductase family 1 member D1 | Nie odnotowano | W 1 chorobie |
| ASAH1N-acylsphingosine amidohydrolase 1 | Nie odnotowano | W 1 chorobie |
| BACH2BACH transcriptional regulator 2 | Nie odnotowano | W 1 chorobie |
| BMP2bone morphogenetic protein 2 | Nie odnotowano | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Nie odnotowano | W 1 chorobie |
| BTDbiotinidase | Nie odnotowano | W 1 chorobie |
| BTNL2butyrophilin like 2 | Nie odnotowano | W 1 chorobie |
| CAV1caveolin 1 | Nie odnotowano | W 1 chorobie |
| CD19CD19 molecule | Nie odnotowano | W 1 chorobie |
| CD40LGCD40 ligand | Nie odnotowano | W 1 chorobie |
| CDAN1codanin 1 | Nie odnotowano | W 1 chorobie |
| CDIN1CDAN1 interacting nuclease 1 | Nie odnotowano | W 1 chorobie |
| CPOXcoproporphyrinogen oxidase | Nie odnotowano | W 2 chorobach |
| CTNScystinosin, lysosomal cystine transporter | Nie odnotowano | W 1 chorobie |
| DDRGK1DDRGK domain containing 1 | Nie odnotowano | W 1 chorobie |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nie odnotowano | W 1 chorobie |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Nie odnotowano | W 1 chorobie |
| EPORerythropoietin receptor | Nie odnotowano | W 1 chorobie |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Nie odnotowano | W 1 chorobie |
| FGAfibrinogen alpha chain | Nie odnotowano | W 1 chorobie |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Nie odnotowano | W 1 chorobie |
| FUCA1alpha-L-fucosidase 1 | Nie odnotowano | W 1 chorobie |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Nie odnotowano | W 1 chorobie |
| GAAalpha glucosidase | Nie odnotowano | W 1 chorobie |
| GALEUDP-galactose-4-epimerase | Nie odnotowano | W 1 chorobie |
| GLRX5glutaredoxin 5 | Nie odnotowano | W 1 chorobie |
| GP1BAglycoprotein Ib platelet subunit alpha | Nie odnotowano | W 1 chorobie |
| HAMPhepcidin antimicrobial peptide | Nie odnotowano | W 1 chorobie |
| HJVhemojuvelin BMP co-receptor | Nie odnotowano | W 1 chorobie |
| HK1hexokinase 1 | Nie odnotowano | W 1 chorobie |
| ICOSinducible T cell costimulator | Nie odnotowano | W 1 chorobie |
| IFNGinterferon gamma | Nie odnotowano | W 1 chorobie |
| IFT172intraflagellar transport 172 | Nie odnotowano | W 1 chorobie |
| IL1RNinterleukin 1 receptor antagonist | Nie odnotowano | W 1 chorobie |
| IL2RBinterleukin 2 receptor subunit beta | Nie odnotowano | W 1 chorobie |
| ITCHitchy E3 ubiquitin protein ligase | Nie odnotowano | W 1 chorobie |
| LBRlamin B receptor | Nie odnotowano | W 1 chorobie |
| LPLlipoprotein lipase | Nie odnotowano | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Nie odnotowano | W 1 chorobie |
| MCM4minichromosome maintenance complex component 4 | Nie odnotowano | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Nie odnotowano | W 1 chorobie |
| NAGLUN-acetyl-alpha-glucosaminidase | Nie odnotowano | W 1 chorobie |
| OCLNoccludin | Nie odnotowano | W 1 chorobie |
| PDGFRAplatelet derived growth factor receptor alpha | Nie odnotowano | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Nie odnotowano | W 1 chorobie |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Nie odnotowano | W 1 chorobie |
| PNPpurine nucleoside phosphorylase | Nie odnotowano | W 1 chorobie |
| PSMB4proteasome 20S subunit beta 4 | Nie odnotowano | W 1 chorobie |
| RHDRh blood group D antigen | Nie odnotowano | W 1 chorobie |
| RNASEH2Aribonuclease H2 subunit A | Nie odnotowano | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Nie odnotowano | W 1 chorobie |
| SEC23BSEC23 homolog B, COPII component | Nie odnotowano | W 1 chorobie |
| SLC17A5solute carrier family 17 member 5 | Nie odnotowano | W 1 chorobie |
| SLC39A4solute carrier family 39 member 4 | Nie odnotowano | W 1 chorobie |
| SLC7A7solute carrier family 7 member 7 | Nie odnotowano | W 1 chorobie |
| TALDO1transaldolase 1 | Nie odnotowano | W 1 chorobie |
| TNFRSF13BTNF receptor superfamily member 13B | Nie odnotowano | W 1 chorobie |
| TNFRSF13CTNF receptor superfamily member 13C | Nie odnotowano | W 1 chorobie |
| TNFRSF4TNF receptor superfamily member 4 | Nie odnotowano | W 1 chorobie |
| TPI1triosephosphate isomerase 1 | Nie odnotowano | W 1 chorobie |
| VMA22vacuolar ATPase assembly factor VMA22 | Nie odnotowano | W 1 chorobie |
| WDR35WD repeat domain 35 | Nie odnotowano | W 1 chorobie |
| ZAP70zeta chain of T cell receptor associated protein kinase 70 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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