Egenskap
Increased spleen size
Klinisk navn: Splenomegaly
Abnormal increased size of the spleen.
Sammendrag
- Også kalt
- Large spleen
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test442 gener knyttet til Increased spleen size
Endringer i disse genene forårsaker sjeldne tilstander der Increased spleen size forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCB11ATP binding cassette subfamily B member 11 | Alltid | I 2 tilstander |
| ABCB4ATP binding cassette subfamily B member 4 | Alltid | I 1 tilstand |
| ABCD3ATP binding cassette subfamily D member 3 | Alltid | I 1 tilstand |
| ABCG8ATP binding cassette subfamily G member 8 | Alltid | I 2 tilstander |
| ALDOAaldolase, fructose-bisphosphate A | Alltid | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Alltid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alltid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alltid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| APOC2apolipoprotein C2 | Alltid | I 1 tilstand |
| APOEapolipoprotein E | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ARPC5actin related protein 2/3 complex subunit 5 | Alltid | I 1 tilstand |
| ATP7BATPase copper transporting beta | Alltid | I 2 tilstander |
| ATP8B1ATPase phospholipid transporting 8B1 | Alltid | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 1 tilstand |
| CALRcalreticulin | Alltid | I 5 tilstander |
| CARD11caspase recruitment domain family member 11 | Alltid | I 1 tilstand |
| CASP10caspase 10 | Alltid | I 2 tilstander |
| CASP8caspase 8 | Alltid | I 1 tilstand |
| CD27CD27 molecule | Alltid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Alltid | I 1 tilstand |
| CR2complement C3d receptor 2 | Alltid | I 2 tilstander |
| CSF3Rcolony stimulating factor 3 receptor | Alltid | I 1 tilstand |
| CYBC1cytochrome b-245 chaperone 1 | Alltid | I 2 tilstander |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Alltid | I 1 tilstand |
| DCDC2doublecortin domain containing 2 | Alltid | I 2 tilstander |
| DCLRE1CDNA cross-link repair 1C | Alltid | I 3 tilstander |
| DGUOKdeoxyguanosine kinase | Alltid | I 2 tilstander |
| DHCR77-dehydrocholesterol reductase | Alltid | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Alltid | I 2 tilstander |
| F8coagulation factor VIII | Alltid | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Alltid | I 9 tilstander |
| GIMAP5GTPase, IMAP family member 5 | Alltid | I 1 tilstand |
| GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Alltid | I 1 tilstand |
| HBBhemoglobin subunit beta | Alltid | I 10 tilstander |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
| IDSiduronate 2-sulfatase | Alltid | I 1 tilstand |
| IRF8interferon regulatory factor 8 | Alltid | I 1 tilstand |
| ITKIL2 inducible T cell kinase | Alltid | I 1 tilstand |
Vis 402 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alltid | I 1 tilstand |
| JAK2Janus kinase 2 | Alltid | I 8 tilstander |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Alltid | I 2 tilstander |
| KLF1KLF transcription factor 1 | Alltid | I 4 tilstander |
| KRASKRas proto-oncogene, GTPase | Alltid | I 1 tilstand |
| LATlinker for activation of T cells | Alltid | I 1 tilstand |
| LIPAlipase A, lysosomal acid type | Alltid | I 4 tilstander |
| LMNAlamin A/C | Alltid | I 3 tilstander |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
| MAGT1magnesium transporter 1 | Alltid | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alltid | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 1 tilstand |
| MPLMPL proto-oncogene, thrombopoietin receptor | Alltid | I 4 tilstander |
| NFKBIANFKB inhibitor alpha | Alltid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Alltid | I 1 tilstand |
| NLRC4NLR family CARD domain containing 4 | Alltid | I 1 tilstand |
| OAS12'-5'-oligoadenylate synthetase 1 | Alltid | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Alltid | I 2 tilstander |
| PDCD1programmed cell death 1 | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 2 tilstander |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Alltid | I 1 tilstand |
| PKLRpyruvate kinase L/R | Alltid | I 2 tilstander |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Alltid | I 1 tilstand |
| POLD3DNA polymerase delta 3, accessory subunit | Alltid | I 1 tilstand |
| POT1protection of telomeres 1 | Alltid | I 1 tilstand |
| PSAPprosaposin | Alltid | I 3 tilstander |
| PSKH1protein serine kinase H1 | Alltid | I 1 tilstand |
| PSMG2proteasome assembly chaperone 2 | Alltid | I 1 tilstand |
| PTCRApre T cell antigen receptor alpha | Alltid | I 1 tilstand |
| RASGRP1RAS guanyl releasing protein 1 | Alltid | I 1 tilstand |
| RC3H1ring finger and CCCH-type domains 1 | Alltid | I 1 tilstand |
| RFXAPregulatory factor X associated protein | Alltid | I 1 tilstand |
| RNF31ring finger protein 31 | Alltid | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Alltid | I 1 tilstand |
| SERPINA1serpin family A member 1 | Alltid | I 1 tilstand |
| SH2B3SH2B adaptor protein 3 | Alltid | I 4 tilstander |
| SLC2A1solute carrier family 2 member 1 | Alltid | I 2 tilstander |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 2 tilstander |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Alltid | I 5 tilstander |
| SPIN4spindlin family member 4 | Alltid | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Alltid | I 3 tilstander |
| STX11syntaxin 11 | Alltid | I 2 tilstander |
| STXBP2syntaxin binding protein 2 | Alltid | I 2 tilstander |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Alltid | I 2 tilstander |
| TNFRSF9TNF receptor superfamily member 9 | Alltid | I 1 tilstand |
| TRAF3TNF receptor associated factor 3 | Alltid | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Alltid | I 1 tilstand |
| UROSuroporphyrinogen III synthase | Alltid | I 2 tilstander |
| VPS45vacuolar protein sorting 45 homolog | Alltid | I 1 tilstand |
| WASWASP actin nucleation promoting factor | Alltid | I 1 tilstand |
| ADA2adenosine deaminase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ALPK1alpha kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ARSBarylsulfatase B | Svært ofte (80–99 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Svært ofte (80–99 %) | I 1 tilstand |
| CASRcalcium sensing receptor | Svært ofte (80–99 %) | I 2 tilstander |
| CLCN7Cl-/H+ antiporter 7 | Svært ofte (80–99 %) | I 3 tilstander |
| CLDN1claudin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| F5coagulation factor V | Svært ofte (80–99 %) | I 1 tilstand |
| FASFas cell surface death receptor | Svært ofte (80–99 %) | I 3 tilstander |
| FASLGFas ligand | Svært ofte (80–99 %) | I 2 tilstander |
| G6PDglucose-6-phosphate dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Svært ofte (80–99 %) | I 3 tilstander |
| GLB1galactosidase beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GPC3glypican 3 | Svært ofte (80–99 %) | I 2 tilstander |
| GPC4glypican 4 | Svært ofte (80–99 %) | I 1 tilstand |
| HBG1hemoglobin subunit gamma 1 | Svært ofte (80–99 %) | I 2 tilstander |
| HBG2hemoglobin subunit gamma 2 | Svært ofte (80–99 %) | I 2 tilstander |
| IDUAalpha-L-iduronidase | Svært ofte (80–99 %) | I 5 tilstander |
| LRBALPS responsive beige-like anchor protein | Svært ofte (80–99 %) | I 1 tilstand |
| MVKmevalonate kinase | Svært ofte (80–99 %) | I 2 tilstander |
| NEU1neuraminidase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| NLRP3NLR family pyrin domain containing 3 | Svært ofte (80–99 %) | I 2 tilstander |
| OTCornithine transcarbamylase | Svært ofte (80–99 %) | I 1 tilstand |
| PRF1perforin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RAB27ARAB27A, member RAS oncogene family | Svært ofte (80–99 %) | I 1 tilstand |
| RAG1recombination activating 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SCARB2scavenger receptor class B member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SNX10sorting nexin 10 | Svært ofte (80–99 %) | I 2 tilstander |
| SUMF1sulfatase modifying factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TLR8toll like receptor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Svært ofte (80–99 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Svært ofte (80–99 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Svært ofte (80–99 %) | I 1 tilstand |
| XIAPX-linked inhibitor of apoptosis | Svært ofte (80–99 %) | I 3 tilstander |
| ABCG5ATP binding cassette subfamily G member 5 | Ofte (30–79 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ADAadenosine deaminase | Ofte (30–79 %) | I 2 tilstander |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 1 tilstand |
| ANK1ankyrin 1 | Ofte (30–79 %) | I 3 tilstander |
| ATMATM serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BCL2BCL2 apoptosis regulator | Ofte (30–79 %) | I 1 tilstand |
| BCL6BCL6 transcription repressor | Ofte (30–79 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Ofte (30–79 %) | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CCND1cyclin D1 | Ofte (30–79 %) | I 2 tilstander |
| CD28CD28 molecule | Ofte (30–79 %) | I 2 tilstander |
| CD4CD4 molecule | Ofte (30–79 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Ofte (30–79 %) | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ofte (30–79 %) | I 1 tilstand |
| COX4I2cytochrome c oxidase subunit 4I2 | Ofte (30–79 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Ofte (30–79 %) | I 4 tilstander |
| DOCK11dedicator of cytokinesis 11 | Ofte (30–79 %) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Ofte (30–79 %) | I 1 tilstand |
| FAHfumarylacetoacetate hydrolase | Ofte (30–79 %) | I 2 tilstander |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 1 tilstand |
| FCHO1FCH and mu domain containing endocytic adaptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FERMT3FERM domain containing kindlin 3 | Ofte (30–79 %) | I 1 tilstand |
| FOCADfocadhesin | Ofte (30–79 %) | I 1 tilstand |
| GATA2GATA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GPD1glycerol-3-phosphate dehydrogenase 1 | Ofte (30–79 %) | I 1 tilstand |
| GPIglucose-6-phosphate isomerase | Ofte (30–79 %) | I 2 tilstander |
| GPR35G protein-coupled receptor 35 | Ofte (30–79 %) | I 1 tilstand |
| GUSBglucuronidase beta | Ofte (30–79 %) | I 2 tilstander |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 2 tilstander |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 2 tilstander |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 3 tilstander |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Ofte (30–79 %) | I 2 tilstander |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Ofte (30–79 %) | I 1 tilstand |
| IGHimmunoglobulin heavy locus | Ofte (30–79 %) | I 2 tilstander |
| IKZF3IKAROS family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| IL2RGinterleukin 2 receptor subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| IL7Rinterleukin 7 receptor | Ofte (30–79 %) | I 2 tilstander |
| INSRinsulin receptor | Ofte (30–79 %) | I 1 tilstand |
| IRF1interferon regulatory factor 1 | Ofte (30–79 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Ofte (30–79 %) | I 2 tilstander |
| LPIN2lipin 2 | Ofte (30–79 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Ofte (30–79 %) | I 2 tilstander |
| MMUTmethylmalonyl-CoA mutase | Ofte (30–79 %) | I 1 tilstand |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Ofte (30–79 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Ofte (30–79 %) | I 1 tilstand |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| NBEAL2neurobeachin like 2 | Ofte (30–79 %) | I 2 tilstander |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ofte (30–79 %) | I 1 tilstand |
| NLRP1NLR family pyrin domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| NLRP12NLR family pyrin domain containing 12 | Ofte (30–79 %) | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ofte (30–79 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Ofte (30–79 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 2 tilstander |
| NUDCD3NudC domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| PEPDpeptidase D | Ofte (30–79 %) | I 2 tilstander |
| PEX7peroxisomal biogenesis factor 7 | Ofte (30–79 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ofte (30–79 %) | I 3 tilstander |
| PIGMphosphatidylinositol glycan anchor biosynthesis class M | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 2 tilstander |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Ofte (30–79 %) | I 3 tilstander |
| PRKCDprotein kinase C delta | Ofte (30–79 %) | I 1 tilstand |
| PSMB10proteasome 20S subunit beta 10 | Ofte (30–79 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ofte (30–79 %) | I 1 tilstand |
| PSMB9proteasome 20S subunit beta 9 | Ofte (30–79 %) | I 1 tilstand |
| RAG2recombination activating 2 | Ofte (30–79 %) | I 2 tilstander |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RFX5regulatory factor X5 | Ofte (30–79 %) | I 1 tilstand |
| RINT1RAD50 interactor 1 | Ofte (30–79 %) | I 1 tilstand |
| RIPK1receptor interacting serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 1 tilstand |
| RUNX1RUNX family transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Ofte (30–79 %) | I 1 tilstand |
| SH2D1ASH2 domain containing 1A | Ofte (30–79 %) | I 1 tilstand |
| SHARPINSHANK associated RH domain interactor | Ofte (30–79 %) | I 1 tilstand |
| SLC19A1solute carrier family 19 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC30A10solute carrier family 30 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Ofte (30–79 %) | I 2 tilstander |
| STAT1signal transducer and activator of transcription 1 | Ofte (30–79 %) | I 1 tilstand |
| STEAP3STEAP3 metalloreductase | Ofte (30–79 %) | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| SYKspleen associated tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| TCF3transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| TCF4transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 4 tilstander |
| THPOthrombopoietin | Ofte (30–79 %) | I 2 tilstander |
| TNFRSF11ATNF receptor superfamily member 11a | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF1ATNF receptor superfamily member 1A | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF1BTNF receptor superfamily member 1B | Ofte (30–79 %) | I 2 tilstander |
| TP53tumor protein p53 | Ofte (30–79 %) | I 1 tilstand |
| TPP2tripeptidyl peptidase 2 | Ofte (30–79 %) | I 1 tilstand |
| TRACT cell receptor alpha constant | Ofte (30–79 %) | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ofte (30–79 %) | I 1 tilstand |
| UMPSuridine monophosphate synthetase | Ofte (30–79 %) | I 1 tilstand |
| UNC13Dunc-13 homolog D | Ofte (30–79 %) | I 1 tilstand |
| USP53ubiquitin specific peptidase 53 | Ofte (30–79 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ofte (30–79 %) | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Ofte (30–79 %) | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE19zinc finger FYVE-type containing 19 | Ofte (30–79 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Noen ganger (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ALAS25'-aminolevulinate synthase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Noen ganger (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Noen ganger (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYBAcytochrome b-245 alpha chain | Noen ganger (5–29 %) | I 2 tilstander |
| CYBBcytochrome b-245 beta chain | Noen ganger (5–29 %) | I 2 tilstander |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DHRSXdehydrogenase/reductase X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Noen ganger (5–29 %) | I 1 tilstand |
| EPB41erythrocyte membrane protein band 4.1 | Noen ganger (5–29 %) | I 2 tilstander |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| GYPCglycophorin C (Gerbich blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Noen ganger (5–29 %) | I 2 tilstander |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| IL10interleukin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Noen ganger (5–29 %) | I 2 tilstander |
| IL12A-AS1IL12A antisense RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12RB1interleukin 12 receptor subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| IL6interleukin 6 | Noen ganger (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Noen ganger (5–29 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Noen ganger (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 1 tilstand |
| KPTNkaptin, actin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LCATlecithin-cholesterol acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MCTS1MCTS1 re-initiation and release factor | Noen ganger (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 3 tilstander |
| MICU1mitochondrial calcium uptake 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MIFmacrophage migration inhibitory factor | Noen ganger (5–29 %) | I 1 tilstand |
| MMEL1membrane metalloendopeptidase like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Noen ganger (5–29 %) | I 1 tilstand |
| MYO5Bmyosin VB | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NCF2neutrophil cytosolic factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| NCF4neutrophil cytosolic factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| NEK8NIMA related kinase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NHP2NHP2 ribonucleoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NOP10NOP10 ribonucleoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PHKBphosphorylase kinase regulatory subunit beta | Noen ganger (5–29 %) | I 2 tilstander |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| POU2AF1POU class 2 homeobox associating factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PPARGperoxisome proliferator activated receptor gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 2 tilstander |
| RHAGRh associated glycoprotein | Noen ganger (5–29 %) | I 2 tilstander |
| RORCRAR related orphan receptor C | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Noen ganger (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SAA1serum amyloid A1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SF3B1splicing factor 3b subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Noen ganger (5–29 %) | I 2 tilstander |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Noen ganger (5–29 %) | I 1 tilstand |
| SOCS1suppressor of cytokine signaling 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SPIBSpi-B transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TBXAS1thromboxane A synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TERCtelomerase RNA component | Noen ganger (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 2 tilstander |
| TNFSF15TNF superfamily member 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Noen ganger (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| URODuroporphyrinogen decarboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Noen ganger (5–29 %) | I 1 tilstand |
| WDR1WD repeat domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Noen ganger (5–29 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Sjelden (1–4%) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sjelden (1–4%) | I 2 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sjelden (1–4%) | I 2 tilstander |
| FOXP3forkhead box P3 | Sjelden (1–4%) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sjelden (1–4%) | I 2 tilstander |
| HAVCR2hepatitis A virus cellular receptor 2 | Sjelden (1–4%) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sjelden (1–4%) | I 2 tilstander |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Sjelden (1–4%) | I 1 tilstand |
| SGSHN-sulfoglucosamine sulfohydrolase | Sjelden (1–4%) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Sjelden (1–4%) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Ikke registrert | I 1 tilstand |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Ikke registrert | I 1 tilstand |
| AKR1D1aldo-keto reductase family 1 member D1 | Ikke registrert | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ikke registrert | I 1 tilstand |
| BACH2BACH transcriptional regulator 2 | Ikke registrert | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registrert | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registrert | I 1 tilstand |
| BTDbiotinidase | Ikke registrert | I 1 tilstand |
| BTNL2butyrophilin like 2 | Ikke registrert | I 1 tilstand |
| CAV1caveolin 1 | Ikke registrert | I 1 tilstand |
| CD19CD19 molecule | Ikke registrert | I 1 tilstand |
| CD40LGCD40 ligand | Ikke registrert | I 1 tilstand |
| CDAN1codanin 1 | Ikke registrert | I 1 tilstand |
| CDIN1CDAN1 interacting nuclease 1 | Ikke registrert | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registrert | I 2 tilstander |
| CTNScystinosin, lysosomal cystine transporter | Ikke registrert | I 1 tilstand |
| DDRGK1DDRGK domain containing 1 | Ikke registrert | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ikke registrert | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ikke registrert | I 1 tilstand |
| EPORerythropoietin receptor | Ikke registrert | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registrert | I 1 tilstand |
| FGAfibrinogen alpha chain | Ikke registrert | I 1 tilstand |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Ikke registrert | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Ikke registrert | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ikke registrert | I 1 tilstand |
| GAAalpha glucosidase | Ikke registrert | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Ikke registrert | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registrert | I 1 tilstand |
| GP1BAglycoprotein Ib platelet subunit alpha | Ikke registrert | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ikke registrert | I 1 tilstand |
| HJVhemojuvelin BMP co-receptor | Ikke registrert | I 1 tilstand |
| HK1hexokinase 1 | Ikke registrert | I 1 tilstand |
| ICOSinducible T cell costimulator | Ikke registrert | I 1 tilstand |
| IFNGinterferon gamma | Ikke registrert | I 1 tilstand |
| IFT172intraflagellar transport 172 | Ikke registrert | I 1 tilstand |
| IL1RNinterleukin 1 receptor antagonist | Ikke registrert | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Ikke registrert | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Ikke registrert | I 1 tilstand |
| LBRlamin B receptor | Ikke registrert | I 1 tilstand |
| LPLlipoprotein lipase | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MCM4minichromosome maintenance complex component 4 | Ikke registrert | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ikke registrert | I 1 tilstand |
| NAGLUN-acetyl-alpha-glucosaminidase | Ikke registrert | I 1 tilstand |
| OCLNoccludin | Ikke registrert | I 1 tilstand |
| PDGFRAplatelet derived growth factor receptor alpha | Ikke registrert | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registrert | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ikke registrert | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Ikke registrert | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registrert | I 1 tilstand |
| RHDRh blood group D antigen | Ikke registrert | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ikke registrert | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ikke registrert | I 1 tilstand |
| SEC23BSEC23 homolog B, COPII component | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC39A4solute carrier family 39 member 4 | Ikke registrert | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Ikke registrert | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registrert | I 1 tilstand |
| TNFRSF13BTNF receptor superfamily member 13B | Ikke registrert | I 1 tilstand |
| TNFRSF13CTNF receptor superfamily member 13C | Ikke registrert | I 1 tilstand |
| TNFRSF4TNF receptor superfamily member 4 | Ikke registrert | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registrert | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registrert | I 1 tilstand |
| ZAP70zeta chain of T cell receptor associated protein kinase 70 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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