Egenskap
Constipation
Infrequent or difficult evacuation of feces.
Sammendrag
- Også kalt
- Costiveness, Dyschezia
- Kroppssystem
- Abnormality of the digestive system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
Read the genes linked to Constipation, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test415 gener knyttet til Constipation
Endringer i disse genene forårsaker sjeldne tilstander der Constipation 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 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Alltid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Alltid | I 1 tilstand |
| DNM1dynamin 1 | Alltid | I 1 tilstand |
| EDAectodysplasin A | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| HOXA13homeobox A13 | Alltid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alltid | I 1 tilstand |
| JPH1junctophilin 1 | Alltid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KDM1Alysine demethylase 1A | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Alltid | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Alltid | I 2 tilstander |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Alltid | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Alltid | I 1 tilstand |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Alltid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Svært ofte (80–99 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Svært ofte (80–99 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Svært ofte (80–99 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Svært ofte (80–99 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Svært ofte (80–99 %) | I 2 tilstander |
| CTNScystinosin, lysosomal cystine transporter | Svært ofte (80–99 %) | I 1 tilstand |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Svært ofte (80–99 %) | I 1 tilstand |
| EDN3endothelin 3 | Svært ofte (80–99 %) | I 2 tilstander |
Vis 375 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| EDNRBendothelin receptor type B | Svært ofte (80–99 %) | I 2 tilstander |
| 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 |
| FOXE1forkhead box E1 | Svært ofte (80–99 %) | I 1 tilstand |
| GDNFglial cell derived neurotrophic factor | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| MEFVMEFV innate immunity regulator, pyrin | Svært ofte (80–99 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | 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 |
| NALCNsodium leak channel, non-selective | Svært ofte (80–99 %) | I 3 tilstander |
| NKX2-1NK2 homeobox 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Svært ofte (80–99 %) | I 2 tilstander |
| NPATnuclear protein, coactivator of histone transcription | Svært ofte (80–99 %) | I 1 tilstand |
| NRTNneurturin | Svært ofte (80–99 %) | I 1 tilstand |
| PAX8paired box 8 | Svært ofte (80–99 %) | I 4 tilstander |
| PCCApropionyl-CoA carboxylase subunit alpha | Svært ofte (80–99 %) | I 2 tilstander |
| PCCBpropionyl-CoA carboxylase subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Svært ofte (80–99 %) | I 2 tilstander |
| 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 |
| RETret proto-oncogene | Svært ofte (80–99 %) | I 5 tilstander |
| RPS20ribosomal protein S20 | Svært ofte (80–99 %) | I 1 tilstand |
| SCNN1Asodium channel epithelial 1 subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| SCNN1Bsodium channel epithelial 1 subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Svært ofte (80–99 %) | I 1 tilstand |
| 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 |
| SLC26A4solute carrier family 26 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 |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 2 tilstander |
| TGFBR2transforming growth factor beta receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Svært ofte (80–99 %) | I 3 tilstander |
| WACWW domain containing adaptor with coiled-coil | Svært ofte (80–99 %) | I 3 tilstander |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ofte (30–79 %) | I 2 tilstander |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 3 tilstander |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstander |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| FBXW7F-box and WD repeat domain containing 7 | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| HPSE2heparanase 2 (inactive) | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ofte (30–79 %) | I 2 tilstander |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 4 tilstander |
| MED12Lmediator complex subunit 12L | Ofte (30–79 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| P2RY11purinergic receptor P2Y11 | Ofte (30–79 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| PTCH1patched 1 | Ofte (30–79 %) | I 4 tilstander |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 2 tilstander |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 4 tilstander |
| SDHCsuccinate dehydrogenase complex subunit C | Ofte (30–79 %) | I 3 tilstander |
| SEC24CSEC24 homolog C, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| SLC6A3solute carrier family 6 member 3 | Ofte (30–79 %) | I 2 tilstander |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| STARsteroidogenic acute regulatory protein | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| TXNRD2thioredoxin reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 4 tilstander |
| ZNF365zinc finger protein 365 | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Noen ganger (5–29 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| ALDOBaldolase, fructose-bisphosphate B | Noen ganger (5–29 %) | I 1 tilstand |
| AMNamnion associated transmembrane protein | Noen ganger (5–29 %) | I 1 tilstand |
| AMOTL1angiomotin like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 3 tilstander |
| CD96CD96 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDC73cell division cycle 73 | Noen ganger (5–29 %) | I 2 tilstander |
| CDK13cyclin dependent kinase 13 | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CUBNcubilin | Noen ganger (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| FOXA2forkhead box A2 | Noen ganger (5–29 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Noen ganger (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 3 tilstander |
| HTRA2HtrA serine peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMC2laminin subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Noen ganger (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PARK7Parkinsonism associated deglycase | Noen ganger (5–29 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Noen ganger (5–29 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Noen ganger (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Noen ganger (5–29 %) | I 1 tilstand |
| PODXLpodocalyxin like | Noen ganger (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Noen ganger (5–29 %) | I 3 tilstander |
| POLG2DNA polymerase gamma 2, accessory subunit | Noen ganger (5–29 %) | I 2 tilstander |
| POLRMTRNA polymerase mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Noen ganger (5–29 %) | I 2 tilstander |
| PROKR2prokineticin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Noen ganger (5–29 %) | I 2 tilstander |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A11solute carrier family 25 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SNCAsynuclein alpha | Noen ganger (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| SRCAPSnf2 related CREBBP activator protein | Noen ganger (5–29 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM127transmembrane protein 127 | Noen ganger (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Noen ganger (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Noen ganger (5–29 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Noen ganger (5–29 %) | I 2 tilstander |
| VPS13Cvacuolar protein sorting 13 homolog C | Noen ganger (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 3 tilstander |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Sjelden (1–4%) | I 1 tilstand |
| NAB2NGFI-A binding protein 2 | Sjelden (1–4%) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Sjelden (1–4%) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sjelden (1–4%) | I 1 tilstand |
| SLC12A3solute carrier family 12 member 3 | Sjelden (1–4%) | I 2 tilstander |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| STAT6signal transducer and activator of transcription 6 | Sjelden (1–4%) | I 1 tilstand |
| ACTG2actin gamma 2, smooth muscle | Ikke registrert | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registrert | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ikke registrert | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registrert | I 1 tilstand |
| ATXN3ataxin 3 | Ikke registrert | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registrert | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registrert | I 1 tilstand |
| CASRcalcium sensing receptor | Ikke registrert | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registrert | I 1 tilstand |
| DESdesmin | Ikke registrert | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registrert | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Ikke registrert | I 1 tilstand |
| FLNAfilamin A | Ikke registrert | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registrert | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ikke registrert | I 1 tilstand |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Ikke registrert | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registrert | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registrert | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registrert | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registrert | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Ikke registrert | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Ikke registrert | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registrert | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ikke registrert | I 1 tilstand |
| NRXN1neurexin 1 | Ikke registrert | I 1 tilstand |
| SLC12A1solute carrier family 12 member 1 | Ikke registrert | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registrert | I 1 tilstand |
| TBL1Xtransducin beta like 1 X-linked | Ikke registrert | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| THRAthyroid hormone receptor alpha | Ikke registrert | I 1 tilstand |
| TYMPthymidine phosphorylase | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | 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.
Fra 449 $Gratis frakt · Resultater på 6–8 uker