Cecha
Constipation
Infrequent or difficult evacuation of feces.
Podsumowanie
- Znana także jako
- Costiveness, Dyschezia
- Układ organizmu
- Abnormality of the digestive system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Constipation, and the rest of your genome, with one test.
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Zamawiam Genome Test415 genów powiązanych z Constipation
Zmiany w tych genach powodują rzadkie choroby, w których występuje Constipation. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Zawsze | W 1 chorobie |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Zawsze | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Zawsze | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Zawsze | W 1 chorobie |
| DNM1dynamin 1 | Zawsze | W 1 chorobie |
| EDAectodysplasin A | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Zawsze | W 1 chorobie |
| HOXA13homeobox A13 | Zawsze | W 1 chorobie |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Zawsze | W 1 chorobie |
| JPH1junctophilin 1 | Zawsze | W 1 chorobie |
| KCNK3potassium two pore domain channel subfamily K member 3 | Zawsze | W 1 chorobie |
| KDM1Alysine demethylase 1A | Zawsze | W 1 chorobie |
| KDM2Blysine demethylase 2B | Zawsze | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Zawsze | W 1 chorobie |
| MBD5methyl-CpG binding domain protein 5 | Zawsze | W 2 chorobach |
| MPV17mitochondrial inner membrane protein MPV17 | Zawsze | W 1 chorobie |
| MSL2MSL complex subunit 2 | Zawsze | W 1 chorobie |
| RAB32RAB32, member RAS oncogene family | Zawsze | W 1 chorobie |
| RAB3ARAB3A, member RAS oncogene family | Zawsze | W 1 chorobie |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Zawsze | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
| VPS51VPS51 subunit of GARP complex | Zawsze | W 1 chorobie |
| ZMYM3zinc finger MYM-type containing 3 | Zawsze | W 1 chorobie |
| ABCD1ATP binding cassette subfamily D member 1 | Bardzo często (80–99%) | W 1 chorobie |
| ATMATM serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Bardzo często (80–99%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Bardzo często (80–99%) | W 1 chorobie |
| BRCA1BRCA1 DNA repair associated | Bardzo często (80–99%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Bardzo często (80–99%) | W 1 chorobie |
| CHEK2checkpoint kinase 2 | Bardzo często (80–99%) | W 1 chorobie |
| CHST14carbohydrate sulfotransferase 14 | Bardzo często (80–99%) | W 2 chorobach |
| CTNScystinosin, lysosomal cystine transporter | Bardzo często (80–99%) | W 1 chorobie |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| DEAF1DEAF1 transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| ECE1endothelin converting enzyme 1 | Bardzo często (80–99%) | W 1 chorobie |
| EDN3endothelin 3 | Bardzo często (80–99%) | W 2 chorobach |
Pokaż jeszcze 375 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| EDNRBendothelin receptor type B | Bardzo często (80–99%) | W 2 chorobach |
| EPCAMepithelial cell adhesion molecule | Bardzo często (80–99%) | W 1 chorobie |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Bardzo często (80–99%) | W 1 chorobie |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Bardzo często (80–99%) | W 1 chorobie |
| FOXE1forkhead box E1 | Bardzo często (80–99%) | W 1 chorobie |
| GDNFglial cell derived neurotrophic factor | Bardzo często (80–99%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 2 chorobach |
| MEFVMEFV innate immunity regulator, pyrin | Bardzo często (80–99%) | W 1 chorobie |
| MITFmelanocyte inducing transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| MLH1mutL homolog 1 | Bardzo często (80–99%) | W 1 chorobie |
| MSH2mutS homolog 2 | Bardzo często (80–99%) | W 1 chorobie |
| MSH6mutS homolog 6 | Bardzo często (80–99%) | W 1 chorobie |
| MUTYHmutY DNA glycosylase | Bardzo często (80–99%) | W 1 chorobie |
| NALCNsodium leak channel, non-selective | Bardzo często (80–99%) | W 3 chorobach |
| NKX2-1NK2 homeobox 1 | Bardzo często (80–99%) | W 1 chorobie |
| NKX2-5NK2 homeobox 5 | Bardzo często (80–99%) | W 2 chorobach |
| NPATnuclear protein, coactivator of histone transcription | Bardzo często (80–99%) | W 1 chorobie |
| NRTNneurturin | Bardzo często (80–99%) | W 1 chorobie |
| PAX8paired box 8 | Bardzo często (80–99%) | W 4 chorobach |
| PCCApropionyl-CoA carboxylase subunit alpha | Bardzo często (80–99%) | W 2 chorobach |
| PCCBpropionyl-CoA carboxylase subunit beta | Bardzo często (80–99%) | W 2 chorobach |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Bardzo często (80–99%) | W 2 chorobach |
| PMS1PMS1 homolog 1, mismatch repair system component | Bardzo często (80–99%) | W 1 chorobie |
| PMS2PMS1 homolog 2, mismatch repair system component | Bardzo często (80–99%) | W 1 chorobie |
| POLD1DNA polymerase delta 1, catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| RETret proto-oncogene | Bardzo często (80–99%) | W 5 chorobach |
| RPS20ribosomal protein S20 | Bardzo często (80–99%) | W 1 chorobie |
| SCNN1Asodium channel epithelial 1 subunit alpha | Bardzo często (80–99%) | W 1 chorobie |
| SCNN1Bsodium channel epithelial 1 subunit beta | Bardzo często (80–99%) | W 1 chorobie |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Bardzo często (80–99%) | W 1 chorobie |
| SEMA3Csemaphorin 3C | Bardzo często (80–99%) | W 1 chorobie |
| SEMA3Dsemaphorin 3D | Bardzo często (80–99%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Bardzo często (80–99%) | W 1 chorobie |
| SLC26A4solute carrier family 26 member 4 | Bardzo często (80–99%) | W 2 chorobach |
| SMOsmoothened, frizzled class receptor | Bardzo często (80–99%) | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Bardzo często (80–99%) | W 2 chorobach |
| SREBF1sterol regulatory element binding transcription factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| TCF4transcription factor 4 | Bardzo często (80–99%) | W 2 chorobach |
| TGFBR2transforming growth factor beta receptor 2 | Bardzo często (80–99%) | W 1 chorobie |
| TSHRthyroid stimulating hormone receptor | Bardzo często (80–99%) | W 3 chorobach |
| WACWW domain containing adaptor with coiled-coil | Bardzo często (80–99%) | W 3 chorobach |
| AFF4ALF transcription elongation factor 4 | Często (30–79%) | W 2 chorobach |
| APCAPC regulator of Wnt signaling pathway | Często (30–79%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Często (30–79%) | W 1 chorobie |
| AQP2aquaporin 2 | Często (30–79%) | W 2 chorobach |
| ARVCFARVCF delta catenin family member | Często (30–79%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Często (30–79%) | W 1 chorobie |
| AVPR2arginine vasopressin receptor 2 | Często (30–79%) | W 2 chorobach |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Często (30–79%) | W 1 chorobie |
| BCL10BCL10 immune signaling adaptor | Często (30–79%) | W 1 chorobie |
| BIRC3baculoviral IAP repeat containing 3 | Często (30–79%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Często (30–79%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Często (30–79%) | W 1 chorobie |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Często (30–79%) | W 1 chorobie |
| CAMTA1calmodulin binding transcription activator 1 | Często (30–79%) | W 1 chorobie |
| CASZ1castor zinc finger 1 | Często (30–79%) | W 1 chorobie |
| CAVIN1caveolae associated protein 1 | Często (30–79%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Często (30–79%) | W 2 chorobach |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 4 chorobach |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Często (30–79%) | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Często (30–79%) | W 1 chorobie |
| CHRM3cholinergic receptor muscarinic 3 | Często (30–79%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Często (30–79%) | W 1 chorobie |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Często (30–79%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Często (30–79%) | W 1 chorobie |
| COL7A1collagen type VII alpha 1 chain | Często (30–79%) | W 2 chorobach |
| COMTcatechol-O-methyltransferase | Często (30–79%) | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Często (30–79%) | W 2 chorobach |
| CREBBPCREB binding lysine acetyltransferase | Często (30–79%) | W 3 chorobach |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 4 chorobach |
| CSNK2A1casein kinase 2 alpha 1 | Często (30–79%) | W 1 chorobie |
| CTSHcathepsin H | Często (30–79%) | W 1 chorobie |
| DACT1dishevelled binding antagonist of beta catenin 1 | Często (30–79%) | W 1 chorobie |
| DDCdopa decarboxylase | Często (30–79%) | W 2 chorobach |
| DDHD2DDHD domain containing 2 | Często (30–79%) | W 1 chorobie |
| DHPSdeoxyhypusine synthase | Często (30–79%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 4 chorobach |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 4 chorobach |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Często (30–79%) | W 1 chorobie |
| DPF2double PHD fingers 2 | Często (30–79%) | W 1 chorobie |
| DSEdermatan sulfate epimerase | Często (30–79%) | W 1 chorobie |
| DUOX2dual oxidase 2 | Często (30–79%) | W 2 chorobach |
| DUOXA2dual oxidase maturation factor 2 | Często (30–79%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Często (30–79%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 2 chorobach |
| EP300EP300 lysine acetyltransferase | Często (30–79%) | W 2 chorobach |
| EPG5ectopic P-granules 5 autophagy tethering factor | Często (30–79%) | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Często (30–79%) | W 2 chorobach |
| FBXW7F-box and WD repeat domain containing 7 | Często (30–79%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 4 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 3 chorobach |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Często (30–79%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| FOXH1forkhead box H1 | Często (30–79%) | W 4 chorobach |
| FOXP1forkhead box P1 | Często (30–79%) | W 2 chorobach |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Często (30–79%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Często (30–79%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Często (30–79%) | W 4 chorobach |
| GGT1gamma-glutamyltransferase 1 | Często (30–79%) | W 1 chorobie |
| GJC2gap junction protein gamma 2 | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 5 chorobach |
| GP1BBglycoprotein Ib platelet subunit beta | Często (30–79%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Często (30–79%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Często (30–79%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Często (30–79%) | W 1 chorobie |
| HCRThypocretin neuropeptide precursor | Często (30–79%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Często (30–79%) | W 3 chorobach |
| HIRAhistone cell cycle regulator | Często (30–79%) | W 1 chorobie |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Często (30–79%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Często (30–79%) | W 1 chorobie |
| HMBShydroxymethylbilane synthase | Często (30–79%) | W 2 chorobach |
| HPSE2heparanase 2 (inactive) | Często (30–79%) | W 2 chorobach |
| HSPG2heparan sulfate proteoglycan 2 | Często (30–79%) | W 1 chorobie |
| IGHimmunoglobulin heavy locus | Często (30–79%) | W 1 chorobie |
| IYDiodotyrosine deiodinase | Często (30–79%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Często (30–79%) | W 1 chorobie |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Często (30–79%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Często (30–79%) | W 2 chorobach |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Często (30–79%) | W 1 chorobie |
| KITKIT proto-oncogene, receptor tyrosine kinase | Często (30–79%) | W 2 chorobach |
| KMT2Alysine methyltransferase 2A | Często (30–79%) | W 1 chorobie |
| LHX3LIM homeobox 3 | Często (30–79%) | W 1 chorobie |
| LHX4LIM homeobox 4 | Często (30–79%) | W 2 chorobach |
| LIMK1LIM domain kinase 1 | Często (30–79%) | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Często (30–79%) | W 2 chorobach |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Często (30–79%) | W 2 chorobach |
| LUZP1leucine zipper protein 1 | Często (30–79%) | W 1 chorobie |
| MALT1MALT1 paracaspase | Często (30–79%) | W 1 chorobie |
| MC2Rmelanocortin 2 receptor | Często (30–79%) | W 1 chorobie |
| MDH2malate dehydrogenase 2 | Często (30–79%) | W 2 chorobach |
| MECP2methyl-CpG binding protein 2 | Często (30–79%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Często (30–79%) | W 4 chorobach |
| MED12Lmediator complex subunit 12L | Często (30–79%) | W 1 chorobie |
| MED25mediator complex subunit 25 | Często (30–79%) | W 2 chorobach |
| METTL27methyltransferase like 27 | Często (30–79%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Często (30–79%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Często (30–79%) | W 1 chorobie |
| MOGmyelin oligodendrocyte glycoprotein | Często (30–79%) | W 1 chorobie |
| MRAPmelanocortin 2 receptor accessory protein | Często (30–79%) | W 1 chorobie |
| MRPS34mitochondrial ribosomal protein S34 | Często (30–79%) | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Często (30–79%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Często (30–79%) | W 1 chorobie |
| NGFnerve growth factor | Często (30–79%) | W 1 chorobie |
| NNTnicotinamide nucleotide transhydrogenase | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 4 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Często (30–79%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Często (30–79%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Często (30–79%) | W 2 chorobach |
| P2RY11purinergic receptor P2Y11 | Często (30–79%) | W 1 chorobie |
| PACS1phosphofurin acidic cluster sorting protein 1 | Często (30–79%) | W 2 chorobach |
| PDGFRAplatelet derived growth factor receptor alpha | Często (30–79%) | W 1 chorobie |
| PDPNpodoplanin | Często (30–79%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Często (30–79%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Często (30–79%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 1 chorobie |
| PORCNporcupine O-acyltransferase | Często (30–79%) | W 1 chorobie |
| POU1F1POU class 1 homeobox 1 | Często (30–79%) | W 2 chorobach |
| POU4F1POU class 4 homeobox 1 | Często (30–79%) | W 1 chorobie |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Często (30–79%) | W 1 chorobie |
| PPOXprotoporphyrinogen oxidase | Często (30–79%) | W 2 chorobach |
| PRDM16PR/SET domain 16 | Często (30–79%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Często (30–79%) | W 1 chorobie |
| PROP1PROP paired-like homeobox 1 | Często (30–79%) | W 3 chorobach |
| PTCH1patched 1 | Często (30–79%) | W 4 chorobach |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 2 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Często (30–79%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Często (30–79%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Często (30–79%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Często (30–79%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Często (30–79%) | W 1 chorobie |
| SALL1spalt like transcription factor 1 | Często (30–79%) | W 1 chorobie |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Często (30–79%) | W 1 chorobie |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Często (30–79%) | W 2 chorobach |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Często (30–79%) | W 1 chorobie |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Często (30–79%) | W 2 chorobach |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Często (30–79%) | W 2 chorobach |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Często (30–79%) | W 4 chorobach |
| SDHCsuccinate dehydrogenase complex subunit C | Często (30–79%) | W 3 chorobach |
| SEC24CSEC24 homolog C, COPII component | Często (30–79%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 4 chorobach |
| SIsucrase-isomaltase | Często (30–79%) | W 1 chorobie |
| SIK3SIK family kinase 3 | Często (30–79%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Często (30–79%) | W 5 chorobach |
| SKISKI proto-oncogene | Często (30–79%) | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Często (30–79%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Często (30–79%) | W 1 chorobie |
| SLC5A5solute carrier family 5 member 5 | Często (30–79%) | W 2 chorobach |
| SLC6A3solute carrier family 6 member 3 | Często (30–79%) | W 2 chorobach |
| SLC6A8solute carrier family 6 member 8 | Często (30–79%) | W 2 chorobach |
| SLC9A6solute carrier family 9 member A6 | Często (30–79%) | W 1 chorobie |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Często (30–79%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Często (30–79%) | W 1 chorobie |
| SPARTspartin | Często (30–79%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Często (30–79%) | W 2 chorobach |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 2 chorobach |
| STARsteroidogenic acute regulatory protein | Często (30–79%) | W 1 chorobie |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 4 chorobach |
| STX1Asyntaxin 1A | Często (30–79%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Często (30–79%) | W 1 chorobie |
| TBL2transducin beta like 2 | Często (30–79%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Często (30–79%) | W 1 chorobie |
| TGthyroglobulin | Często (30–79%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 4 chorobach |
| THtyrosine hydroxylase | Często (30–79%) | W 1 chorobie |
| TLK2tousled like kinase 2 | Często (30–79%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Często (30–79%) | W 1 chorobie |
| TNFRSF1ATNF receptor superfamily member 1A | Często (30–79%) | W 1 chorobie |
| TNFSF4TNF superfamily member 4 | Często (30–79%) | W 1 chorobie |
| TPOthyroid peroxidase | Często (30–79%) | W 1 chorobie |
| TSHBthyroid stimulating hormone subunit beta | Często (30–79%) | W 1 chorobie |
| TSPOAP1TSPO associated protein 1 | Często (30–79%) | W 1 chorobie |
| TTRtransthyretin | Często (30–79%) | W 2 chorobach |
| TXNRD2thioredoxin reductase 2 | Często (30–79%) | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Często (30–79%) | W 2 chorobach |
| UBE3Bubiquitin protein ligase E3B | Często (30–79%) | W 1 chorobie |
| UBE4Bubiquitination factor E4B | Często (30–79%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Często (30–79%) | W 1 chorobie |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Często (30–79%) | W 2 chorobach |
| VPS37DVPS37D subunit of ESCRT-I | Często (30–79%) | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| WDR26WD repeat domain 26 | Często (30–79%) | W 2 chorobach |
| YME1L1YME1 like 1 ATPase | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| ZNF365zinc finger protein 365 | Często (30–79%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Czasami (5–29%) | W 1 chorobie |
| ALADaminolevulinate dehydratase | Czasami (5–29%) | W 1 chorobie |
| ALDOBaldolase, fructose-bisphosphate B | Czasami (5–29%) | W 1 chorobie |
| AMNamnion associated transmembrane protein | Czasami (5–29%) | W 1 chorobie |
| AMOTL1angiomotin like 1 | Czasami (5–29%) | W 1 chorobie |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Czasami (5–29%) | W 1 chorobie |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ATN1atrophin 1 | Czasami (5–29%) | W 1 chorobie |
| ATRXATRX chromatin remodeler | Czasami (5–29%) | W 3 chorobach |
| CD96CD96 molecule | Czasami (5–29%) | W 1 chorobie |
| CDC73cell division cycle 73 | Czasami (5–29%) | W 2 chorobach |
| CDK13cyclin dependent kinase 13 | Czasami (5–29%) | W 1 chorobie |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Czasami (5–29%) | W 1 chorobie |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Czasami (5–29%) | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Czasami (5–29%) | W 1 chorobie |
| CILK1ciliogenesis associated kinase 1 | Czasami (5–29%) | W 1 chorobie |
| CISD2CDGSH iron sulfur domain 2 | Czasami (5–29%) | W 1 chorobie |
| CUBNcubilin | Czasami (5–29%) | W 1 chorobie |
| DLSTdihydrolipoamide S-succinyltransferase | Czasami (5–29%) | W 1 chorobie |
| DMPKDM1 protein kinase | Czasami (5–29%) | W 1 chorobie |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Czasami (5–29%) | W 1 chorobie |
| DNMT3ADNA methyltransferase 3 alpha | Czasami (5–29%) | W 1 chorobie |
| EPAS1endothelial PAS domain protein 1 | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FGF13fibroblast growth factor 13 | Czasami (5–29%) | W 1 chorobie |
| FHfumarate hydratase | Czasami (5–29%) | W 1 chorobie |
| FOXA2forkhead box A2 | Czasami (5–29%) | W 1 chorobie |
| FRMD5FERM domain containing 5 | Czasami (5–29%) | W 1 chorobie |
| GRB10growth factor receptor bound protein 10 | Czasami (5–29%) | W 1 chorobie |
| HEXBhexosaminidase subunit beta | Czasami (5–29%) | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Czasami (5–29%) | W 3 chorobach |
| HTRA2HtrA serine peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| KDM6Blysine demethylase 6B | Czasami (5–29%) | W 1 chorobie |
| KIF1Bkinesin family member 1B | Czasami (5–29%) | W 1 chorobie |
| LAMA3laminin subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| LAMB3laminin subunit beta 3 | Czasami (5–29%) | W 1 chorobie |
| LAMC2laminin subunit gamma 2 | Czasami (5–29%) | W 1 chorobie |
| LMNB1lamin B1 | Czasami (5–29%) | W 1 chorobie |
| LRRK2leucine rich repeat kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MAXMYC associated transcriptional regulator X | Czasami (5–29%) | W 1 chorobie |
| MEN1menin 1 | Czasami (5–29%) | W 1 chorobie |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Czasami (5–29%) | W 1 chorobie |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Czasami (5–29%) | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Czasami (5–29%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Czasami (5–29%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Czasami (5–29%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Czasami (5–29%) | W 1 chorobie |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Czasami (5–29%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Czasami (5–29%) | W 1 chorobie |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Czasami (5–29%) | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Czasami (5–29%) | W 1 chorobie |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Czasami (5–29%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 1 chorobie |
| NFIXnuclear factor I X | Czasami (5–29%) | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Czasami (5–29%) | W 2 chorobach |
| PARK7Parkinsonism associated deglycase | Czasami (5–29%) | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Czasami (5–29%) | W 1 chorobie |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Czasami (5–29%) | W 1 chorobie |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Czasami (5–29%) | W 1 chorobie |
| PINK1PTEN induced kinase 1 | Czasami (5–29%) | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Czasami (5–29%) | W 1 chorobie |
| PODXLpodocalyxin like | Czasami (5–29%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Czasami (5–29%) | W 3 chorobach |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 2 chorobach |
| POLRMTRNA polymerase mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PRKNparkin RBR E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| PRNPprion protein (Kanno blood group) | Czasami (5–29%) | W 2 chorobach |
| PROKR2prokineticin receptor 2 | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Czasami (5–29%) | W 1 chorobie |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Czasami (5–29%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Czasami (5–29%) | W 2 chorobach |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SLC25A11solute carrier family 25 member 11 | Czasami (5–29%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Czasami (5–29%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Czasami (5–29%) | W 2 chorobach |
| SNCAsynuclein alpha | Czasami (5–29%) | W 1 chorobie |
| SOX2SRY-box transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| SOX3SRY-box transcription factor 3 | Czasami (5–29%) | W 2 chorobach |
| SRCAPSnf2 related CREBBP activator protein | Czasami (5–29%) | W 1 chorobie |
| STAT3signal transducer and activator of transcription 3 | Czasami (5–29%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM127transmembrane protein 127 | Czasami (5–29%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Czasami (5–29%) | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Czasami (5–29%) | W 1 chorobie |
| VHLvon Hippel-Lindau tumor suppressor | Czasami (5–29%) | W 2 chorobach |
| VPS13Cvacuolar protein sorting 13 homolog C | Czasami (5–29%) | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Czasami (5–29%) | W 1 chorobie |
| WSB2WD repeat and SOCS box containing 2 | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 3 chorobach |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| CLCNKBchloride voltage-gated channel Kb | Rzadko (1–4%) | W 1 chorobie |
| NAB2NGFI-A binding protein 2 | Rzadko (1–4%) | W 1 chorobie |
| PORcytochrome p450 oxidoreductase | Rzadko (1–4%) | W 1 chorobie |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Rzadko (1–4%) | W 1 chorobie |
| SLC12A3solute carrier family 12 member 3 | Rzadko (1–4%) | W 2 chorobach |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| STAT6signal transducer and activator of transcription 6 | Rzadko (1–4%) | W 1 chorobie |
| ACTG2actin gamma 2, smooth muscle | Nie odnotowano | W 1 chorobie |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Nie odnotowano | W 1 chorobie |
| ALPLalkaline phosphatase, biomineralization associated | Nie odnotowano | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Nie odnotowano | W 1 chorobie |
| ATXN2ataxin 2 | Nie odnotowano | W 1 chorobie |
| ATXN3ataxin 3 | Nie odnotowano | W 1 chorobie |
| ATXN8OSATXN8 opposite strand lncRNA | Nie odnotowano | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nie odnotowano | W 1 chorobie |
| CASRcalcium sensing receptor | Nie odnotowano | W 1 chorobie |
| CPOXcoproporphyrinogen oxidase | Nie odnotowano | W 1 chorobie |
| DESdesmin | Nie odnotowano | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Nie odnotowano | W 1 chorobie |
| ELP1elongator acetyltransferase complex subunit 1 | Nie odnotowano | W 1 chorobie |
| FLNAfilamin A | Nie odnotowano | W 1 chorobie |
| FOXG1forkhead box G1 | Nie odnotowano | W 1 chorobie |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Nie odnotowano | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Nie odnotowano | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Nie odnotowano | W 1 chorobie |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Nie odnotowano | W 1 chorobie |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Nie odnotowano | W 1 chorobie |
| MAGEL2MAGE family member L2 | Nie odnotowano | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nie odnotowano | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nie odnotowano | W 1 chorobie |
| MAPTmicrotubule associated protein tau | Nie odnotowano | W 1 chorobie |
| MLYCDmalonyl-CoA decarboxylase | Nie odnotowano | W 1 chorobie |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Nie odnotowano | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Nie odnotowano | W 1 chorobie |
| NRXN1neurexin 1 | Nie odnotowano | W 1 chorobie |
| SLC12A1solute carrier family 12 member 1 | Nie odnotowano | W 1 chorobie |
| SNCAIPsynuclein alpha interacting protein | Nie odnotowano | W 1 chorobie |
| TBL1Xtransducin beta like 1 X-linked | Nie odnotowano | W 1 chorobie |
| TBPTATA-box binding protein | Nie odnotowano | W 1 chorobie |
| TCF20transcription factor 20 | Nie odnotowano | W 1 chorobie |
| THRAthyroid hormone receptor alpha | Nie odnotowano | W 1 chorobie |
| TYMPthymidine phosphorylase | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
| VANGL1VANGL planar cell polarity protein 1 | Nie odnotowano | W 1 chorobie |
| ZMIZ1zinc finger MIZ-type containing 1 | Nie odnotowano | W 1 chorobie |
| ZSWIM6zinc finger SWIM-type containing 6 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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