Træk
Constipation
Infrequent or difficult evacuation of feces.
Resumé
- Også kaldet
- Costiveness, Dyschezia
- Kropssystem
- Abnormality of the digestive system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test415 gener knyttet til Constipation
Ændringer i disse gener forårsager sjældne tilstande, hvor Constipation ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 1 tilstand |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Altid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Altid | I 1 tilstand |
| DNM1dynamin 1 | Altid | I 1 tilstand |
| EDAectodysplasin A | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| HOXA13homeobox A13 | Altid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 1 tilstand |
| JPH1junctophilin 1 | Altid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KDM1Alysine demethylase 1A | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Altid | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Altid | I 2 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Altid | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Altid | I 1 tilstand |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Altid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Altid | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Meget ofte (80–99 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Meget ofte (80–99 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Meget ofte (80–99 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Meget ofte (80–99 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Meget ofte (80–99 %) | I 2 tilstande |
| CTNScystinosin, lysosomal cystine transporter | Meget ofte (80–99 %) | I 1 tilstand |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EDN3endothelin 3 | Meget ofte (80–99 %) | I 2 tilstande |
Vis 375 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| EDNRBendothelin receptor type B | Meget ofte (80–99 %) | I 2 tilstande |
| EPCAMepithelial cell adhesion molecule | Meget ofte (80–99 %) | I 1 tilstand |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| FOXE1forkhead box E1 | Meget ofte (80–99 %) | I 1 tilstand |
| GDNFglial cell derived neurotrophic factor | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| MEFVMEFV innate immunity regulator, pyrin | Meget ofte (80–99 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Meget ofte (80–99 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Meget ofte (80–99 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Meget ofte (80–99 %) | I 3 tilstande |
| NKX2-1NK2 homeobox 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Meget ofte (80–99 %) | I 2 tilstande |
| NPATnuclear protein, coactivator of histone transcription | Meget ofte (80–99 %) | I 1 tilstand |
| NRTNneurturin | Meget ofte (80–99 %) | I 1 tilstand |
| PAX8paired box 8 | Meget ofte (80–99 %) | I 4 tilstande |
| PCCApropionyl-CoA carboxylase subunit alpha | Meget ofte (80–99 %) | I 2 tilstande |
| PCCBpropionyl-CoA carboxylase subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Meget ofte (80–99 %) | I 2 tilstande |
| PMS1PMS1 homolog 1, mismatch repair system component | Meget ofte (80–99 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Meget ofte (80–99 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| RETret proto-oncogene | Meget ofte (80–99 %) | I 5 tilstande |
| RPS20ribosomal protein S20 | Meget ofte (80–99 %) | I 1 tilstand |
| SCNN1Asodium channel epithelial 1 subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| SCNN1Bsodium channel epithelial 1 subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA3Csemaphorin 3C | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA3Dsemaphorin 3D | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Meget ofte (80–99 %) | I 1 tilstand |
| SLC26A4solute carrier family 26 member 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SMOsmoothened, frizzled class receptor | Meget ofte (80–99 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Meget ofte (80–99 %) | I 2 tilstande |
| SREBF1sterol regulatory element binding transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TCF4transcription factor 4 | Meget ofte (80–99 %) | I 2 tilstande |
| TGFBR2transforming growth factor beta receptor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Meget ofte (80–99 %) | I 3 tilstande |
| WACWW domain containing adaptor with coiled-coil | Meget ofte (80–99 %) | I 3 tilstande |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstande |
| APCAPC regulator of Wnt signaling pathway | Ofte (30–79 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Ofte (30–79 %) | I 1 tilstand |
| AQP2aquaporin 2 | Ofte (30–79 %) | I 2 tilstande |
| ARVCFARVCF delta catenin family member | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| AVPR2arginine vasopressin receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Ofte (30–79 %) | I 1 tilstand |
| BIRC3baculoviral IAP repeat containing 3 | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstande |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 4 tilstande |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Ofte (30–79 %) | I 1 tilstand |
| CHRM3cholinergic receptor muscarinic 3 | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Ofte (30–79 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ofte (30–79 %) | I 2 tilstande |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 3 tilstande |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 4 tilstande |
| CSNK2A1casein kinase 2 alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| CTSHcathepsin H | Ofte (30–79 %) | I 1 tilstand |
| DACT1dishevelled binding antagonist of beta catenin 1 | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 2 tilstande |
| DDHD2DDHD domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Ofte (30–79 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 4 tilstande |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 4 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Ofte (30–79 %) | I 1 tilstand |
| DUOX2dual oxidase 2 | Ofte (30–79 %) | I 2 tilstande |
| DUOXA2dual oxidase maturation factor 2 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 2 tilstande |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| FBXW7F-box and WD repeat domain containing 7 | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 4 tilstande |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstande |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Ofte (30–79 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 4 tilstande |
| GGT1gamma-glutamyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 5 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| HCRThypocretin neuropeptide precursor | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 3 tilstande |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ofte (30–79 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 2 tilstande |
| HPSE2heparanase 2 (inactive) | Ofte (30–79 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| IGHimmunoglobulin heavy locus | Ofte (30–79 %) | I 1 tilstand |
| IYDiodotyrosine deiodinase | Ofte (30–79 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Ofte (30–79 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 2 tilstande |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Ofte (30–79 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Ofte (30–79 %) | I 2 tilstande |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Ofte (30–79 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ofte (30–79 %) | I 2 tilstande |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Ofte (30–79 %) | I 2 tilstande |
| LUZP1leucine zipper protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MALT1MALT1 paracaspase | Ofte (30–79 %) | I 1 tilstand |
| MC2Rmelanocortin 2 receptor | Ofte (30–79 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 2 tilstande |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 4 tilstande |
| MED12Lmediator complex subunit 12L | Ofte (30–79 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstande |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Ofte (30–79 %) | I 1 tilstand |
| MOGmyelin oligodendrocyte glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| MRAPmelanocortin 2 receptor accessory protein | Ofte (30–79 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Ofte (30–79 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NGFnerve growth factor | Ofte (30–79 %) | I 1 tilstand |
| NNTnicotinamide nucleotide transhydrogenase | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 4 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ofte (30–79 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| P2RY11purinergic receptor P2Y11 | Ofte (30–79 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ofte (30–79 %) | I 2 tilstande |
| PDGFRAplatelet derived growth factor receptor alpha | Ofte (30–79 %) | I 1 tilstand |
| PDPNpodoplanin | Ofte (30–79 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ofte (30–79 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ofte (30–79 %) | I 2 tilstande |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Ofte (30–79 %) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Ofte (30–79 %) | I 2 tilstande |
| PRDM16PR/SET domain 16 | Ofte (30–79 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Ofte (30–79 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Ofte (30–79 %) | I 3 tilstande |
| PTCH1patched 1 | Ofte (30–79 %) | I 4 tilstande |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Ofte (30–79 %) | I 2 tilstande |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ofte (30–79 %) | I 2 tilstande |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 2 tilstande |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 4 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Ofte (30–79 %) | I 3 tilstande |
| SEC24CSEC24 homolog C, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 4 tilstande |
| SIsucrase-isomaltase | Ofte (30–79 %) | I 1 tilstand |
| SIK3SIK family kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 5 tilstande |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC5A5solute carrier family 5 member 5 | Ofte (30–79 %) | I 2 tilstande |
| SLC6A3solute carrier family 6 member 3 | Ofte (30–79 %) | I 2 tilstande |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 2 tilstande |
| SLC9A6solute carrier family 9 member A6 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Ofte (30–79 %) | I 2 tilstande |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| STARsteroidogenic acute regulatory protein | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstande |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TGthyroglobulin | Ofte (30–79 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 4 tilstande |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF1ATNF receptor superfamily member 1A | Ofte (30–79 %) | I 1 tilstand |
| TNFSF4TNF superfamily member 4 | Ofte (30–79 %) | I 1 tilstand |
| TPOthyroid peroxidase | Ofte (30–79 %) | I 1 tilstand |
| TSHBthyroid stimulating hormone subunit beta | Ofte (30–79 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TTRtransthyretin | Ofte (30–79 %) | I 2 tilstande |
| TXNRD2thioredoxin reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ofte (30–79 %) | I 2 tilstande |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Ofte (30–79 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofte (30–79 %) | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Ofte (30–79 %) | I 2 tilstande |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 4 tilstande |
| ZNF365zinc finger protein 365 | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Nogle gange (5–29 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| ALDOBaldolase, fructose-bisphosphate B | Nogle gange (5–29 %) | I 1 tilstand |
| AMNamnion associated transmembrane protein | Nogle gange (5–29 %) | I 1 tilstand |
| AMOTL1angiomotin like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 3 tilstande |
| CD96CD96 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDC73cell division cycle 73 | Nogle gange (5–29 %) | I 2 tilstande |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Nogle gange (5–29 %) | I 1 tilstand |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CUBNcubilin | Nogle gange (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| FOXA2forkhead box A2 | Nogle gange (5–29 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Nogle gange (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Nogle gange (5–29 %) | I 3 tilstande |
| HTRA2HtrA serine peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMC2laminin subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Nogle gange (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PARK7Parkinsonism associated deglycase | Nogle gange (5–29 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Nogle gange (5–29 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Nogle gange (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Nogle gange (5–29 %) | I 1 tilstand |
| PODXLpodocalyxin like | Nogle gange (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Nogle gange (5–29 %) | I 3 tilstande |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 2 tilstande |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Nogle gange (5–29 %) | I 2 tilstande |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Nogle gange (5–29 %) | I 2 tilstande |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A11solute carrier family 25 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SNCAsynuclein alpha | Nogle gange (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| SRCAPSnf2 related CREBBP activator protein | Nogle gange (5–29 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM127transmembrane protein 127 | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Nogle gange (5–29 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Nogle gange (5–29 %) | I 2 tilstande |
| VPS13Cvacuolar protein sorting 13 homolog C | Nogle gange (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Sjældent (1–4%) | I 1 tilstand |
| NAB2NGFI-A binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Sjældent (1–4%) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sjældent (1–4%) | I 1 tilstand |
| SLC12A3solute carrier family 12 member 3 | Sjældent (1–4%) | I 2 tilstande |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| STAT6signal transducer and activator of transcription 6 | Sjældent (1–4%) | I 1 tilstand |
| ACTG2actin gamma 2, smooth muscle | Ikke registreret | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registreret | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registreret | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ikke registreret | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registreret | I 1 tilstand |
| ATXN3ataxin 3 | Ikke registreret | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registreret | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registreret | I 1 tilstand |
| CASRcalcium sensing receptor | Ikke registreret | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registreret | I 1 tilstand |
| DESdesmin | Ikke registreret | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registreret | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registreret | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ikke registreret | I 1 tilstand |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Ikke registreret | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registreret | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registreret | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registreret | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registreret | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Ikke registreret | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Ikke registreret | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registreret | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ikke registreret | I 1 tilstand |
| NRXN1neurexin 1 | Ikke registreret | I 1 tilstand |
| SLC12A1solute carrier family 12 member 1 | Ikke registreret | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registreret | I 1 tilstand |
| TBL1Xtransducin beta like 1 X-linked | Ikke registreret | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| THRAthyroid hormone receptor alpha | Ikke registreret | I 1 tilstand |
| TYMPthymidine phosphorylase | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
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