Požymis
Constipation
Infrequent or difficult evacuation of feces.
Santrauka
- Taip pat vadinama
- Costiveness, Dyschezia
- Kūno sistema
- Abnormality of the digestive system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Constipation, and the rest of your genome, with one test.
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Įsigyti savo Genome Test415 genų susiję su Constipation
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Constipation. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Visada | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Visada | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Visada | 1 ligoje |
| DNM1dynamin 1 | Visada | 1 ligoje |
| EDAectodysplasin A | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| HOXA13homeobox A13 | Visada | 1 ligoje |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| JPH1junctophilin 1 | Visada | 1 ligoje |
| KCNK3potassium two pore domain channel subfamily K member 3 | Visada | 1 ligoje |
| KDM1Alysine demethylase 1A | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Visada | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Visada | 2 ligose |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| RAB32RAB32, member RAS oncogene family | Visada | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Visada | 1 ligoje |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| VPS51VPS51 subunit of GARP complex | Visada | 1 ligoje |
| ZMYM3zinc finger MYM-type containing 3 | Visada | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Labai dažnai (80–99%) | 1 ligoje |
| ATMATM serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Labai dažnai (80–99%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Labai dažnai (80–99%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Labai dažnai (80–99%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Labai dažnai (80–99%) | 1 ligoje |
| CHEK2checkpoint kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Labai dažnai (80–99%) | 2 ligose |
| CTNScystinosin, lysosomal cystine transporter | Labai dažnai (80–99%) | 1 ligoje |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| DEAF1DEAF1 transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| ECE1endothelin converting enzyme 1 | Labai dažnai (80–99%) | 1 ligoje |
| EDN3endothelin 3 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 375 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| EDNRBendothelin receptor type B | Labai dažnai (80–99%) | 2 ligose |
| EPCAMepithelial cell adhesion molecule | Labai dažnai (80–99%) | 1 ligoje |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Labai dažnai (80–99%) | 1 ligoje |
| FOXE1forkhead box E1 | Labai dažnai (80–99%) | 1 ligoje |
| GDNFglial cell derived neurotrophic factor | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 2 ligose |
| MEFVMEFV innate immunity regulator, pyrin | Labai dažnai (80–99%) | 1 ligoje |
| MITFmelanocyte inducing transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| MLH1mutL homolog 1 | Labai dažnai (80–99%) | 1 ligoje |
| MSH2mutS homolog 2 | Labai dažnai (80–99%) | 1 ligoje |
| MSH6mutS homolog 6 | Labai dažnai (80–99%) | 1 ligoje |
| MUTYHmutY DNA glycosylase | Labai dažnai (80–99%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Labai dažnai (80–99%) | 3 ligose |
| NKX2-1NK2 homeobox 1 | Labai dažnai (80–99%) | 1 ligoje |
| NKX2-5NK2 homeobox 5 | Labai dažnai (80–99%) | 2 ligose |
| NPATnuclear protein, coactivator of histone transcription | Labai dažnai (80–99%) | 1 ligoje |
| NRTNneurturin | Labai dažnai (80–99%) | 1 ligoje |
| PAX8paired box 8 | Labai dažnai (80–99%) | 4 ligose |
| PCCApropionyl-CoA carboxylase subunit alpha | Labai dažnai (80–99%) | 2 ligose |
| PCCBpropionyl-CoA carboxylase subunit beta | Labai dažnai (80–99%) | 2 ligose |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Labai dažnai (80–99%) | 2 ligose |
| PMS1PMS1 homolog 1, mismatch repair system component | Labai dažnai (80–99%) | 1 ligoje |
| PMS2PMS1 homolog 2, mismatch repair system component | Labai dažnai (80–99%) | 1 ligoje |
| POLD1DNA polymerase delta 1, catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| RETret proto-oncogene | Labai dažnai (80–99%) | 5 ligose |
| RPS20ribosomal protein S20 | Labai dažnai (80–99%) | 1 ligoje |
| SCNN1Asodium channel epithelial 1 subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| SCNN1Bsodium channel epithelial 1 subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Labai dažnai (80–99%) | 1 ligoje |
| SEMA3Csemaphorin 3C | Labai dažnai (80–99%) | 1 ligoje |
| SEMA3Dsemaphorin 3D | Labai dažnai (80–99%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A4solute carrier family 26 member 4 | Labai dažnai (80–99%) | 2 ligose |
| SMOsmoothened, frizzled class receptor | Labai dažnai (80–99%) | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Labai dažnai (80–99%) | 2 ligose |
| SREBF1sterol regulatory element binding transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
| TGFBR2transforming growth factor beta receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| TSHRthyroid stimulating hormone receptor | Labai dažnai (80–99%) | 3 ligose |
| WACWW domain containing adaptor with coiled-coil | Labai dažnai (80–99%) | 3 ligose |
| AFF4ALF transcription elongation factor 4 | Dažnai (30–79%) | 2 ligose |
| APCAPC regulator of Wnt signaling pathway | Dažnai (30–79%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Dažnai (30–79%) | 1 ligoje |
| AQP2aquaporin 2 | Dažnai (30–79%) | 2 ligose |
| ARVCFARVCF delta catenin family member | Dažnai (30–79%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| AVPR2arginine vasopressin receptor 2 | Dažnai (30–79%) | 2 ligose |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Dažnai (30–79%) | 1 ligoje |
| BCL10BCL10 immune signaling adaptor | Dažnai (30–79%) | 1 ligoje |
| BIRC3baculoviral IAP repeat containing 3 | Dažnai (30–79%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Dažnai (30–79%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 1 ligoje |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Dažnai (30–79%) | 1 ligoje |
| CAVIN1caveolae associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 2 ligose |
| CDONcell adhesion associated, oncogene regulated | Dažnai (30–79%) | 4 ligose |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Dažnai (30–79%) | 1 ligoje |
| CHRM3cholinergic receptor muscarinic 3 | Dažnai (30–79%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Dažnai (30–79%) | 1 ligoje |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Dažnai (30–79%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Dažnai (30–79%) | 1 ligoje |
| COL7A1collagen type VII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COMTcatechol-O-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Dažnai (30–79%) | 2 ligose |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 3 ligose |
| CRIPTOcripto, EGF-CFC family member | Dažnai (30–79%) | 4 ligose |
| CSNK2A1casein kinase 2 alpha 1 | Dažnai (30–79%) | 1 ligoje |
| CTSHcathepsin H | Dažnai (30–79%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Dažnai (30–79%) | 1 ligoje |
| DDCdopa decarboxylase | Dažnai (30–79%) | 2 ligose |
| DDHD2DDHD domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| DHPSdeoxyhypusine synthase | Dažnai (30–79%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Dažnai (30–79%) | 4 ligose |
| DLL1delta like canonical Notch ligand 1 | Dažnai (30–79%) | 4 ligose |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Dažnai (30–79%) | 1 ligoje |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Dažnai (30–79%) | 1 ligoje |
| DUOX2dual oxidase 2 | Dažnai (30–79%) | 2 ligose |
| DUOXA2dual oxidase maturation factor 2 | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 2 ligose |
| EP300EP300 lysine acetyltransferase | Dažnai (30–79%) | 2 ligose |
| EPG5ectopic P-granules 5 autophagy tethering factor | Dažnai (30–79%) | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Dažnai (30–79%) | 2 ligose |
| FBXW7F-box and WD repeat domain containing 7 | Dažnai (30–79%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Dažnai (30–79%) | 4 ligose |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 3 ligose |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| FOXH1forkhead box H1 | Dažnai (30–79%) | 4 ligose |
| FOXP1forkhead box P1 | Dažnai (30–79%) | 2 ligose |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Dažnai (30–79%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Dažnai (30–79%) | 1 ligoje |
| GAS1growth arrest specific 1 | Dažnai (30–79%) | 4 ligose |
| GGT1gamma-glutamyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| GJC2gap junction protein gamma 2 | Dažnai (30–79%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 5 ligose |
| GP1BBglycoprotein Ib platelet subunit beta | Dažnai (30–79%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| HCRThypocretin neuropeptide precursor | Dažnai (30–79%) | 1 ligoje |
| HESX1HESX homeobox 1 | Dažnai (30–79%) | 3 ligose |
| HIRAhistone cell cycle regulator | Dažnai (30–79%) | 1 ligoje |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Dažnai (30–79%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 1 ligoje |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 2 ligose |
| HPSE2heparanase 2 (inactive) | Dažnai (30–79%) | 2 ligose |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 1 ligoje |
| IGHimmunoglobulin heavy locus | Dažnai (30–79%) | 1 ligoje |
| IYDiodotyrosine deiodinase | Dažnai (30–79%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Dažnai (30–79%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Dažnai (30–79%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Dažnai (30–79%) | 2 ligose |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Dažnai (30–79%) | 1 ligoje |
| KITKIT proto-oncogene, receptor tyrosine kinase | Dažnai (30–79%) | 2 ligose |
| KMT2Alysine methyltransferase 2A | Dažnai (30–79%) | 1 ligoje |
| LHX3LIM homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| LHX4LIM homeobox 4 | Dažnai (30–79%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Dažnai (30–79%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Dažnai (30–79%) | 2 ligose |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Dažnai (30–79%) | 2 ligose |
| LUZP1leucine zipper protein 1 | Dažnai (30–79%) | 1 ligoje |
| MALT1MALT1 paracaspase | Dažnai (30–79%) | 1 ligoje |
| MC2Rmelanocortin 2 receptor | Dažnai (30–79%) | 1 ligoje |
| MDH2malate dehydrogenase 2 | Dažnai (30–79%) | 2 ligose |
| MECP2methyl-CpG binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 4 ligose |
| MED12Lmediator complex subunit 12L | Dažnai (30–79%) | 1 ligoje |
| MED25mediator complex subunit 25 | Dažnai (30–79%) | 2 ligose |
| METTL27methyltransferase like 27 | Dažnai (30–79%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Dažnai (30–79%) | 1 ligoje |
| MOGmyelin oligodendrocyte glycoprotein | Dažnai (30–79%) | 1 ligoje |
| MRAPmelanocortin 2 receptor accessory protein | Dažnai (30–79%) | 1 ligoje |
| MRPS34mitochondrial ribosomal protein S34 | Dažnai (30–79%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Dažnai (30–79%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Dažnai (30–79%) | 1 ligoje |
| NGFnerve growth factor | Dažnai (30–79%) | 1 ligoje |
| NNTnicotinamide nucleotide transhydrogenase | Dažnai (30–79%) | 1 ligoje |
| NODALnodal growth differentiation factor | Dažnai (30–79%) | 4 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Dažnai (30–79%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 2 ligose |
| P2RY11purinergic receptor P2Y11 | Dažnai (30–79%) | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Dažnai (30–79%) | 2 ligose |
| PDGFRAplatelet derived growth factor receptor alpha | Dažnai (30–79%) | 1 ligoje |
| PDPNpodoplanin | Dažnai (30–79%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Dažnai (30–79%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Dažnai (30–79%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Dažnai (30–79%) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Dažnai (30–79%) | 2 ligose |
| POU4F1POU class 4 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Dažnai (30–79%) | 1 ligoje |
| PPOXprotoporphyrinogen oxidase | Dažnai (30–79%) | 2 ligose |
| PRDM16PR/SET domain 16 | Dažnai (30–79%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Dažnai (30–79%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Dažnai (30–79%) | 3 ligose |
| PTCH1patched 1 | Dažnai (30–79%) | 4 ligose |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 2 ligose |
| REREarginine-glutamic acid dipeptide repeats | Dažnai (30–79%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Dažnai (30–79%) | 1 ligoje |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Dažnai (30–79%) | 2 ligose |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Dažnai (30–79%) | 2 ligose |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Dažnai (30–79%) | 2 ligose |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Dažnai (30–79%) | 4 ligose |
| SDHCsuccinate dehydrogenase complex subunit C | Dažnai (30–79%) | 3 ligose |
| SEC24CSEC24 homolog C, COPII component | Dažnai (30–79%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 4 ligose |
| SIsucrase-isomaltase | Dažnai (30–79%) | 1 ligoje |
| SIK3SIK family kinase 3 | Dažnai (30–79%) | 1 ligoje |
| SIX3SIX homeobox 3 | Dažnai (30–79%) | 5 ligose |
| SKISKI proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC5A5solute carrier family 5 member 5 | Dažnai (30–79%) | 2 ligose |
| SLC6A3solute carrier family 6 member 3 | Dažnai (30–79%) | 2 ligose |
| SLC6A8solute carrier family 6 member 8 | Dažnai (30–79%) | 2 ligose |
| SLC9A6solute carrier family 9 member A6 | Dažnai (30–79%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 1 ligoje |
| SPARTspartin | Dažnai (30–79%) | 1 ligoje |
| SPENspen family transcriptional repressor | Dažnai (30–79%) | 2 ligose |
| STAG2STAG2 cohesin complex component | Dažnai (30–79%) | 2 ligose |
| STARsteroidogenic acute regulatory protein | Dažnai (30–79%) | 1 ligoje |
| STILSTIL centriolar assembly protein | Dažnai (30–79%) | 4 ligose |
| STX1Asyntaxin 1A | Dažnai (30–79%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Dažnai (30–79%) | 1 ligoje |
| TBL2transducin beta like 2 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TGthyroglobulin | Dažnai (30–79%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Dažnai (30–79%) | 4 ligose |
| THtyrosine hydroxylase | Dažnai (30–79%) | 1 ligoje |
| TLK2tousled like kinase 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Dažnai (30–79%) | 1 ligoje |
| TNFRSF1ATNF receptor superfamily member 1A | Dažnai (30–79%) | 1 ligoje |
| TNFSF4TNF superfamily member 4 | Dažnai (30–79%) | 1 ligoje |
| TPOthyroid peroxidase | Dažnai (30–79%) | 1 ligoje |
| TSHBthyroid stimulating hormone subunit beta | Dažnai (30–79%) | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| TTRtransthyretin | Dažnai (30–79%) | 2 ligose |
| TXNRD2thioredoxin reductase 2 | Dažnai (30–79%) | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Dažnai (30–79%) | 2 ligose |
| UBE3Bubiquitin protein ligase E3B | Dažnai (30–79%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Dažnai (30–79%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Dažnai (30–79%) | 1 ligoje |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Dažnai (30–79%) | 2 ligose |
| VPS37DVPS37D subunit of ESCRT-I | Dažnai (30–79%) | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| WDR26WD repeat domain 26 | Dažnai (30–79%) | 2 ligose |
| YME1L1YME1 like 1 ATPase | Dažnai (30–79%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Dažnai (30–79%) | 4 ligose |
| ZNF365zinc finger protein 365 | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| AFG2AAAA ATPase AFG2A | Kartais (5–29%) | 1 ligoje |
| ALADaminolevulinate dehydratase | Kartais (5–29%) | 1 ligoje |
| ALDOBaldolase, fructose-bisphosphate B | Kartais (5–29%) | 1 ligoje |
| AMNamnion associated transmembrane protein | Kartais (5–29%) | 1 ligoje |
| AMOTL1angiomotin like 1 | Kartais (5–29%) | 1 ligoje |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Kartais (5–29%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ATN1atrophin 1 | Kartais (5–29%) | 1 ligoje |
| ATRXATRX chromatin remodeler | Kartais (5–29%) | 3 ligose |
| CD96CD96 molecule | Kartais (5–29%) | 1 ligoje |
| CDC73cell division cycle 73 | Kartais (5–29%) | 2 ligose |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Kartais (5–29%) | 1 ligoje |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Kartais (5–29%) | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Kartais (5–29%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Kartais (5–29%) | 1 ligoje |
| CISD2CDGSH iron sulfur domain 2 | Kartais (5–29%) | 1 ligoje |
| CUBNcubilin | Kartais (5–29%) | 1 ligoje |
| DLSTdihydrolipoamide S-succinyltransferase | Kartais (5–29%) | 1 ligoje |
| DMPKDM1 protein kinase | Kartais (5–29%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Kartais (5–29%) | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Kartais (5–29%) | 1 ligoje |
| EPAS1endothelial PAS domain protein 1 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FGF13fibroblast growth factor 13 | Kartais (5–29%) | 1 ligoje |
| FHfumarate hydratase | Kartais (5–29%) | 1 ligoje |
| FOXA2forkhead box A2 | Kartais (5–29%) | 1 ligoje |
| FRMD5FERM domain containing 5 | Kartais (5–29%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Kartais (5–29%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Kartais (5–29%) | 3 ligose |
| HTRA2HtrA serine peptidase 2 | Kartais (5–29%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Kartais (5–29%) | 1 ligoje |
| KIF1Bkinesin family member 1B | Kartais (5–29%) | 1 ligoje |
| LAMA3laminin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LAMB3laminin subunit beta 3 | Kartais (5–29%) | 1 ligoje |
| LAMC2laminin subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LRRK2leucine rich repeat kinase 2 | Kartais (5–29%) | 1 ligoje |
| MAXMYC associated transcriptional regulator X | Kartais (5–29%) | 1 ligoje |
| MEN1menin 1 | Kartais (5–29%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Kartais (5–29%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Kartais (5–29%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Kartais (5–29%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Kartais (5–29%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Kartais (5–29%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Kartais (5–29%) | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Kartais (5–29%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Kartais (5–29%) | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Kartais (5–29%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Kartais (5–29%) | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Kartais (5–29%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Kartais (5–29%) | 2 ligose |
| PARK7Parkinsonism associated deglycase | Kartais (5–29%) | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Kartais (5–29%) | 1 ligoje |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Kartais (5–29%) | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Kartais (5–29%) | 1 ligoje |
| PINK1PTEN induced kinase 1 | Kartais (5–29%) | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Kartais (5–29%) | 1 ligoje |
| PODXLpodocalyxin like | Kartais (5–29%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Kartais (5–29%) | 3 ligose |
| POLG2DNA polymerase gamma 2, accessory subunit | Kartais (5–29%) | 2 ligose |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PRKNparkin RBR E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Kartais (5–29%) | 2 ligose |
| PROKR2prokineticin receptor 2 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Kartais (5–29%) | 2 ligose |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLC25A11solute carrier family 25 member 11 | Kartais (5–29%) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Kartais (5–29%) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Kartais (5–29%) | 2 ligose |
| SNCAsynuclein alpha | Kartais (5–29%) | 1 ligoje |
| SOX2SRY-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| SOX3SRY-box transcription factor 3 | Kartais (5–29%) | 2 ligose |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Kartais (5–29%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Kartais (5–29%) | 1 ligoje |
| TMEM127transmembrane protein 127 | Kartais (5–29%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Kartais (5–29%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Kartais (5–29%) | 1 ligoje |
| VHLvon Hippel-Lindau tumor suppressor | Kartais (5–29%) | 2 ligose |
| VPS13Cvacuolar protein sorting 13 homolog C | Kartais (5–29%) | 1 ligoje |
| WFS1wolframin ER transmembrane glycoprotein | Kartais (5–29%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 3 ligose |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Retai (1–4 %) | 1 ligoje |
| NAB2NGFI-A binding protein 2 | Retai (1–4 %) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Retai (1–4 %) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Retai (1–4 %) | 1 ligoje |
| SLC12A3solute carrier family 12 member 3 | Retai (1–4 %) | 2 ligose |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| STAT6signal transducer and activator of transcription 6 | Retai (1–4 %) | 1 ligoje |
| ACTG2actin gamma 2, smooth muscle | Neužfiksuota | 1 ligoje |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Neužfiksuota | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Neužfiksuota | 1 ligoje |
| ATXN2ataxin 2 | Neužfiksuota | 1 ligoje |
| ATXN3ataxin 3 | Neužfiksuota | 1 ligoje |
| ATXN8OSATXN8 opposite strand lncRNA | Neužfiksuota | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Neužfiksuota | 1 ligoje |
| CASRcalcium sensing receptor | Neužfiksuota | 1 ligoje |
| CPOXcoproporphyrinogen oxidase | Neužfiksuota | 1 ligoje |
| DESdesmin | Neužfiksuota | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Neužfiksuota | 1 ligoje |
| ELP1elongator acetyltransferase complex subunit 1 | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| FOXG1forkhead box G1 | Neužfiksuota | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Neužfiksuota | 1 ligoje |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Neužfiksuota | 1 ligoje |
| MAPTmicrotubule associated protein tau | Neužfiksuota | 1 ligoje |
| MLYCDmalonyl-CoA decarboxylase | Neužfiksuota | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Neužfiksuota | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Neužfiksuota | 1 ligoje |
| NRXN1neurexin 1 | Neužfiksuota | 1 ligoje |
| SLC12A1solute carrier family 12 member 1 | Neužfiksuota | 1 ligoje |
| SNCAIPsynuclein alpha interacting protein | Neužfiksuota | 1 ligoje |
| TBL1Xtransducin beta like 1 X-linked | Neužfiksuota | 1 ligoje |
| TBPTATA-box binding protein | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| THRAthyroid hormone receptor alpha | Neužfiksuota | 1 ligoje |
| TYMPthymidine phosphorylase | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| VANGL1VANGL planar cell polarity protein 1 | Neužfiksuota | 1 ligoje |
| ZMIZ1zinc finger MIZ-type containing 1 | Neužfiksuota | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
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