Egenskap
Abdominal pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Sammendrag
- Også kalt
- Abdominal discomfort, Gastro pain, Gastrointestinal pain, Pain in stomach, Stomach pain, Upset stomach
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Abdominal pain 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 |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Alltid | I 1 tilstand |
| APRTadenine phosphoribosyltransferase | Alltid | I 1 tilstand |
| CARD8caspase recruitment domain family member 8 | Alltid | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Alltid | I 1 tilstand |
| CEBPECCAAT enhancer binding protein epsilon | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| G6PDglucose-6-phosphate dehydrogenase | Alltid | I 1 tilstand |
| GUK1guanylate kinase 1 | Alltid | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Alltid | I 2 tilstander |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
| NCF4neutrophil cytosolic factor 4 | Alltid | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Alltid | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Alltid | I 1 tilstand |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Alltid | I 1 tilstand |
| PLD4phospholipase D family member 4 | Alltid | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Alltid | I 2 tilstander |
| RAD21RAD21 cohesin complex component | Alltid | I 1 tilstand |
| RNU6ATACRNA, U6atac small nuclear | Alltid | I 1 tilstand |
| STK11serine/threonine kinase 11 | Alltid | I 2 tilstander |
| TRU-TCA1-1tRNA-SeC (anticodon TCA) 1-1 | Alltid | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ALDOBaldolase, fructose-bisphosphate B | Svært ofte (80–99 %) | I 2 tilstander |
| ATMATM serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Svært ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Svært ofte (80–99 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Svært ofte (80–99 %) | I 3 tilstander |
| BRCA1BRCA1 DNA repair associated | Svært ofte (80–99 %) | I 3 tilstander |
| BRCA2BRCA2 DNA repair associated | Svært ofte (80–99 %) | I 4 tilstander |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Svært ofte (80–99 %) | I 1 tilstand |
| CASRcalcium sensing receptor | Svært ofte (80–99 %) | I 2 tilstander |
| CD4CD4 molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CDKN2Acyclin dependent kinase inhibitor 2A | Svært ofte (80–99 %) | I 2 tilstander |
| CHEK2checkpoint kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CPA1carboxypeptidase A1 | Svært ofte (80–99 %) | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Svært ofte (80–99 %) | I 2 tilstander |
| CTNNB1catenin beta 1 | Svært ofte (80–99 %) | I 3 tilstander |
| CTRCchymotrypsin C | Svært ofte (80–99 %) | I 2 tilstander |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Svært ofte (80–99 %) | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 287 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| EDN3endothelin 3 | Svært ofte (80–99 %) | I 2 tilstander |
| EDNRBendothelin receptor type B | Svært ofte (80–99 %) | I 2 tilstander |
| EIF4Heukaryotic translation initiation factor 4H | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Svært ofte (80–99 %) | I 1 tilstand |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| EWSR1EWS RNA binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Svært ofte (80–99 %) | I 1 tilstand |
| FSHRfollicle stimulating hormone receptor | Svært ofte (80–99 %) | I 2 tilstander |
| GDNFglial cell derived neurotrophic factor | Svært ofte (80–99 %) | I 1 tilstand |
| GHSRgrowth hormone secretagogue receptor | Svært ofte (80–99 %) | I 1 tilstand |
| GLAgalactosidase alpha | Svært ofte (80–99 %) | I 2 tilstander |
| GTF2Igeneral transcription factor IIi | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Svært ofte (80–99 %) | I 2 tilstander |
| JAK2Janus kinase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| LIG3DNA ligase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Svært ofte (80–99 %) | I 4 tilstander |
| METMET proto-oncogene, receptor tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Svært ofte (80–99 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Svært ofte (80–99 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Svært ofte (80–99 %) | I 1 tilstand |
| MVKmevalonate kinase | Svært ofte (80–99 %) | I 2 tilstander |
| NCF1neutrophil cytosolic factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Svært ofte (80–99 %) | I 1 tilstand |
| NRTNneurturin | Svært ofte (80–99 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Svært ofte (80–99 %) | I 1 tilstand |
| PALLDpalladin, cytoskeletal associated protein | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Svært ofte (80–99 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Svært ofte (80–99 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Svært ofte (80–99 %) | I 3 tilstander |
| PRSS1serine protease 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PRSS2serine protease 2 | Svært ofte (80–99 %) | I 2 tilstander |
| RABL3RAB, member of RAS oncogene family like 3 | Svært ofte (80–99 %) | I 1 tilstand |
| RETret proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Svært ofte (80–99 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Svært ofte (80–99 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Svært ofte (80–99 %) | I 2 tilstander |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Svært ofte (80–99 %) | I 2 tilstander |
| SDHCsuccinate dehydrogenase complex subunit C | Svært ofte (80–99 %) | I 2 tilstander |
| SEMA3Csemaphorin 3C | Svært ofte (80–99 %) | I 1 tilstand |
| SEMA3Dsemaphorin 3D | Svært ofte (80–99 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Svært ofte (80–99 %) | I 1 tilstand |
| SERPING1serpin family G member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SIsucrase-isomaltase | Svært ofte (80–99 %) | I 2 tilstander |
| SMAD4SMAD family member 4 | Svært ofte (80–99 %) | I 2 tilstander |
| SMOsmoothened, frizzled class receptor | Svært ofte (80–99 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Svært ofte (80–99 %) | I 2 tilstander |
| SREBF1sterol regulatory element binding transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Svært ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Svært ofte (80–99 %) | I 1 tilstand |
| TNFRSF1ATNF receptor superfamily member 1A | Svært ofte (80–99 %) | I 2 tilstander |
| TP53tumor protein p53 | Svært ofte (80–99 %) | I 2 tilstander |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Svært ofte (80–99 %) | I 1 tilstand |
| TYMPthymidine phosphorylase | Svært ofte (80–99 %) | I 2 tilstander |
| VPS37DVPS37D subunit of ESCRT-I | Svært ofte (80–99 %) | I 1 tilstand |
| WT1WT1 transcription factor | Svært ofte (80–99 %) | I 3 tilstander |
| ABCA1ATP binding cassette subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Ofte (30–79 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Ofte (30–79 %) | I 2 tilstander |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| BMP6bone morphogenetic protein 6 | Ofte (30–79 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Ofte (30–79 %) | I 1 tilstand |
| CALRcalreticulin | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| CD55CD55 molecule (Cromer blood group) | Ofte (30–79 %) | I 1 tilstand |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Ofte (30–79 %) | I 1 tilstand |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Ofte (30–79 %) | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ofte (30–79 %) | I 1 tilstand |
| CLDN16claudin 16 | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Ofte (30–79 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Ofte (30–79 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Ofte (30–79 %) | I 1 tilstand |
| ELANEelastase, neutrophil expressed | Ofte (30–79 %) | I 2 tilstander |
| ELF4E74 like ETS transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| EPORerythropoietin receptor | Ofte (30–79 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| F5coagulation factor V | Ofte (30–79 %) | I 1 tilstand |
| FASFas cell surface death receptor | Ofte (30–79 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GCGRglucagon receptor | Ofte (30–79 %) | I 2 tilstander |
| GFI1growth factor independent 1 transcriptional repressor | Ofte (30–79 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Ofte (30–79 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Ofte (30–79 %) | I 1 tilstand |
| GPC3glypican 3 | Ofte (30–79 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Ofte (30–79 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Ofte (30–79 %) | I 2 tilstander |
| HLA-Bmajor histocompatibility complex, class I, B | Ofte (30–79 %) | I 4 tilstander |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Ofte (30–79 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| IL10interleukin 10 | Ofte (30–79 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Ofte (30–79 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Ofte (30–79 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| MEN1menin 1 | Ofte (30–79 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ofte (30–79 %) | I 2 tilstander |
| NOD2nucleotide binding oligomerization domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| OTULINOTU deubiquitinase with linear linkage specificity | Ofte (30–79 %) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Ofte (30–79 %) | I 1 tilstand |
| POU6F2POU class 6 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| PRTN3proteinase 3 | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ofte (30–79 %) | I 2 tilstander |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RESTRE1 silencing transcription factor | Ofte (30–79 %) | I 1 tilstand |
| RIPK1receptor interacting serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| RUNX1RUNX family transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SAA1serum amyloid A1 | Ofte (30–79 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 1 tilstand |
| SLC12A3solute carrier family 12 member 3 | Ofte (30–79 %) | I 2 tilstander |
| SRP19signal recognition particle 19 | Ofte (30–79 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Ofte (30–79 %) | I 2 tilstander |
| STAT4signal transducer and activator of transcription 4 | Ofte (30–79 %) | I 2 tilstander |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Ofte (30–79 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Ofte (30–79 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 2 tilstander |
| TLR4toll like receptor 4 | Ofte (30–79 %) | I 1 tilstand |
| TRIM28tripartite motif containing 28 | Ofte (30–79 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Ofte (30–79 %) | I 1 tilstand |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Ofte (30–79 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Ofte (30–79 %) | I 1 tilstand |
| ZNRF3zinc and ring finger 3 | Ofte (30–79 %) | I 1 tilstand |
| ABCC2ATP binding cassette subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTN4actinin alpha 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ANK1ankyrin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKFY1ankyrin repeat and FYVE domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANLNanillin, actin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| APOL1apolipoprotein L1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARHGAP24Rho GTPase activating protein 24 | Noen ganger (5–29 %) | I 1 tilstand |
| ARHGDIARho GDP dissociation inhibitor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ATP7BATPase copper transporting beta | Noen ganger (5–29 %) | I 1 tilstand |
| AVILadvillin | Noen ganger (5–29 %) | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| BIRC3baculoviral IAP repeat containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BNC2basonuclin zinc finger protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CCND1cyclin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| CD2APCD2 associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| CD46CD46 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CFHcomplement factor H | Noen ganger (5–29 %) | I 1 tilstand |
| CFIcomplement factor I | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A3collagen type IV alpha 3 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Noen ganger (5–29 %) | I 1 tilstand |
| CORINcorin, serine peptidase | Noen ganger (5–29 %) | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DAAM2dishevelled associated activator of morphogenesis 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DDIT3DNA damage inducible transcript 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| EMP2epithelial membrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLT1fms related receptor tyrosine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Noen ganger (5–29 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| GAPVD1GTPase activating protein and VPS9 domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | Noen ganger (5–29 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Noen ganger (5–29 %) | I 3 tilstander |
| HBG1hemoglobin subunit gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HBG2hemoglobin subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HELLPARHELLP associated long non-coding RNA | Noen ganger (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| IGHimmunoglobulin heavy locus | Noen ganger (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL6interleukin 6 | Noen ganger (5–29 %) | I 2 tilstander |
| INF2inverted formin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KANK2KN motif and ankyrin repeat domains 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Noen ganger (5–29 %) | I 2 tilstander |
| KLF1KLF transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA5laminin subunit alpha 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MAGI2membrane associated guanylate kinase, WW and PDZ domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MALT1MALT1 paracaspase | Noen ganger (5–29 %) | I 1 tilstand |
| MIFmacrophage migration inhibitory factor | Noen ganger (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Noen ganger (5–29 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYCMYC proto-oncogene, bHLH transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MYO1Emyosin IE | Noen ganger (5–29 %) | I 1 tilstand |
| NABP1nucleic acid binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHS1NPHS1 adhesion molecule, nephrin | Noen ganger (5–29 %) | I 1 tilstand |
| NPHS2NPHS2 stomatin family member, podocin | Noen ganger (5–29 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NUMA1nuclear mitotic apparatus protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP160nucleoporin 160 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP205nucleoporin 205 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP37nucleoporin 37 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP93nucleoporin 93 | Noen ganger (5–29 %) | I 1 tilstand |
| OTCornithine transcarbamylase | Noen ganger (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PLCE1phospholipase C epsilon 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PMLPML nuclear body scaffold | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCSHPRKCSH beta subunit of glucosidase II | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN3protein tyrosine phosphatase non-receptor type 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPROprotein tyrosine phosphatase receptor type O | Noen ganger (5–29 %) | I 1 tilstand |
| RARAretinoic acid receptor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| RNF168ring finger protein 168 | Noen ganger (5–29 %) | I 1 tilstand |
| ROS1ROS proto-oncogene 1, receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC63SEC63 protein translocation regulator | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Noen ganger (5–29 %) | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Noen ganger (5–29 %) | I 2 tilstander |
| SMPD1sphingomyelin phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SPTBspectrin beta, erythrocytic | Noen ganger (5–29 %) | I 2 tilstander |
| STAT3signal transducer and activator of transcription 3 | Noen ganger (5–29 %) | I 2 tilstander |
| STAT5Bsignal transducer and activator of transcription 5B | Noen ganger (5–29 %) | I 1 tilstand |
| STOX1storkhead box 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYKspleen associated tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D8BTBC1 domain family member 8B | Noen ganger (5–29 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TFR2transferrin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TREHtrehalase | Noen ganger (5–29 %) | I 2 tilstander |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| UNC45Aunc-45 myosin chaperone A | Noen ganger (5–29 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Noen ganger (5–29 %) | I 1 tilstand |
| ZBTB16zinc finger and BTB domain containing 16 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCB11ATP binding cassette subfamily B member 11 | Sjelden (1–4%) | I 1 tilstand |
| ABCB4ATP binding cassette subfamily B member 4 | Sjelden (1–4%) | I 1 tilstand |
| ATP8B1ATPase phospholipid transporting 8B1 | Sjelden (1–4%) | I 1 tilstand |
| EPB41erythrocyte membrane protein band 4.1 | Sjelden (1–4%) | I 1 tilstand |
| GYPCglycophorin C (Gerbich blood group) | Sjelden (1–4%) | I 1 tilstand |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| ABCG8ATP binding cassette subfamily G member 8 | Ikke registrert | I 1 tilstand |
| ACTG2actin gamma 2, smooth muscle | Ikke registrert | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ikke registrert | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registrert | I 1 tilstand |
| CELcarboxyl ester lipase | Ikke registrert | I 1 tilstand |
| CFTRCF transmembrane conductance regulator | Ikke registrert | I 1 tilstand |
| GUCY2Cguanylate cyclase 2C | Ikke registrert | I 1 tilstand |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Ikke registrert | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registrert | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Ikke registrert | I 1 tilstand |
| HS3ST6heparan sulfate-glucosamine 3-sulfotransferase 6 | Ikke registrert | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registrert | I 1 tilstand |
| MCM6minichromosome maintenance complex component 6 | Ikke registrert | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Ikke registrert | I 1 tilstand |
| NLRP12NLR family pyrin domain containing 12 | Ikke registrert | I 1 tilstand |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Ikke registrert | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Ikke registrert | I 1 tilstand |
| SPINK1serine peptidase inhibitor Kazal type 1 | Ikke registrert | I 2 tilstander |
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.
Fra 449 $Gratis frakt · Resultater på 6–8 uker