Požymis
High levels of amniotic fluid
Klinikinis pavadinimas: Polyhydramnios
The presence of excess amniotic fluid in the uterus during pregnancy.
Santrauka
- Taip pat vadinama
- Hydramnios
- Kūno sistema
- Abnormality of prenatal development or birth
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to High levels of amniotic fluid, and the rest of your genome, with one test.
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Įsigyti savo Genome Test335 genų susiję su High levels of amniotic fluid
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia High levels of amniotic fluid. 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 |
|---|---|---|
| ACTBactin beta | Visada | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Visada | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Visada | 1 ligoje |
| ANO1anoctamin 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Visada | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Visada | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Visada | 1 ligoje |
| CALCRLcalcitonin receptor like receptor | Visada | 1 ligoje |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| DMRT2doublesex and mab-3 related transcription factor 2 | Visada | 1 ligoje |
| DNM2dynamin 2 | Visada | 2 ligose |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Visada | 1 ligoje |
| EGFRepidermal growth factor receptor | Visada | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Visada | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Visada | 5 ligose |
| FHfumarate hydratase | Visada | 2 ligose |
| FKBP14FKBP prolyl isomerase 14 | Visada | 1 ligoje |
| GBE11,4-alpha-glucan branching enzyme 1 | Visada | 1 ligoje |
| GLDNgliomedin | Visada | 2 ligose |
| GPC3glypican 3 | Visada | 2 ligose |
| IBA57iron-sulfur cluster assembly factor IBA57 | Visada | 2 ligose |
| IKZF1IKAROS family zinc finger 1 | Visada | 1 ligoje |
| INSRinsulin receptor | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LMOD1leiomodin 1 | Visada | 2 ligose |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MYOD1myogenic differentiation 1 | Visada | 2 ligose |
| NEXNnexilin F-actin binding protein | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Visada | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 1 ligoje |
| PLAAphospholipase A2 activating protein | Visada | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Visada | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Visada | 1 ligoje |
| PRRX1paired related homeobox 1 | Visada | 2 ligose |
| REREarginine-glutamic acid dipeptide repeats | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 3 ligose |
Rodyti dar 295 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SCYL2SCY1 like pseudokinase 2 | Visada | 1 ligoje |
| SLC12A1solute carrier family 12 member 1 | Visada | 1 ligoje |
| SLC27A4solute carrier family 27 member 4 | Visada | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Visada | 1 ligoje |
| SLC9A3solute carrier family 9 member A3 | Visada | 1 ligoje |
| SOD1superoxide dismutase 1 | Visada | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Visada | 1 ligoje |
| STRADASTE20 related adaptor alpha | Visada | 2 ligose |
| TBC1D32TBC1 domain family member 32 | Visada | 1 ligoje |
| THOC2THO complex subunit 2 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| ZBTB42zinc finger and BTB domain containing 42 | Visada | 1 ligoje |
| ZIC3Zic family zinc finger 3 | Visada | 2 ligose |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Labai dažnai (80–99%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Labai dažnai (80–99%) | 1 ligoje |
| CEP57centrosomal protein 57 | Labai dažnai (80–99%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Labai dažnai (80–99%) | 3 ligose |
| FANCBFA complementation group B | Labai dažnai (80–99%) | 1 ligoje |
| FOXE1forkhead box E1 | Labai dažnai (80–99%) | 2 ligose |
| HOXD13homeobox D13 | Labai dažnai (80–99%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Labai dažnai (80–99%) | 2 ligose |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 2 ligose |
| KIF7kinesin family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| MEG3maternally expressed 3 | Labai dažnai (80–99%) | 3 ligose |
| MUSKmuscle associated receptor tyrosine kinase | Labai dažnai (80–99%) | 2 ligose |
| ODC1ornithine decarboxylase 1 | Labai dažnai (80–99%) | 2 ligose |
| OTX2orthodenticle homeobox 2 | Labai dažnai (80–99%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Labai dažnai (80–99%) | 1 ligoje |
| PLECplectin | Labai dažnai (80–99%) | 3 ligose |
| PTH1Rparathyroid hormone 1 receptor | Labai dažnai (80–99%) | 2 ligose |
| RSPO2R-spondin 2 | Labai dažnai (80–99%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Labai dažnai (80–99%) | 3 ligose |
| SLC35D1solute carrier family 35 member D1 | Labai dažnai (80–99%) | 2 ligose |
| TBX4T-box transcription factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Labai dažnai (80–99%) | 1 ligoje |
| WNT3Wnt family member 3 | Labai dažnai (80–99%) | 1 ligoje |
| ABCC6ATP binding cassette subfamily C member 6 | Dažnai (30–79%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Dažnai (30–79%) | 6 ligose |
| ACTG2actin gamma 2, smooth muscle | Dažnai (30–79%) | 2 ligose |
| ADAMTSL2ADAMTS like 2 | Dažnai (30–79%) | 1 ligoje |
| ADGRG6adhesion G protein-coupled receptor G6 | Dažnai (30–79%) | 1 ligoje |
| AKT2AKT serine/threonine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Dažnai (30–79%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Dažnai (30–79%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Dažnai (30–79%) | 1 ligoje |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Dažnai (30–79%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Dažnai (30–79%) | 1 ligoje |
| BIN1bridging integrator 1 | Dažnai (30–79%) | 1 ligoje |
| BSNDbarttin CLCNK type accessory subunit beta | Dažnai (30–79%) | 2 ligose |
| CHD7chromodomain helicase DNA binding protein 7 | Dažnai (30–79%) | 2 ligose |
| CLCN7Cl-/H+ antiporter 7 | Dažnai (30–79%) | 1 ligoje |
| CLCNKAchloride voltage-gated channel Ka | Dažnai (30–79%) | 2 ligose |
| CLCNKBchloride voltage-gated channel Kb | Dažnai (30–79%) | 2 ligose |
| CNTNAP1contactin associated protein 1 | Dažnai (30–79%) | 2 ligose |
| COL2A1collagen type II alpha 1 chain | Dažnai (30–79%) | 4 ligose |
| DHCR77-dehydrocholesterol reductase | Dažnai (30–79%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Dažnai (30–79%) | 1 ligoje |
| DOK7docking protein 7 | Dažnai (30–79%) | 1 ligoje |
| DSTdystonin | Dažnai (30–79%) | 2 ligose |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| ERFETS2 repressor factor | Dažnai (30–79%) | 1 ligoje |
| FANCFFA complementation group F | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 1 ligoje |
| FLNBfilamin B | Dažnai (30–79%) | 4 ligose |
| FUT8fucosyltransferase 8 | Dažnai (30–79%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Dažnai (30–79%) | 1 ligoje |
| HBA1hemoglobin subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| HIC1HIC ZBTB transcriptional repressor 1 | Dažnai (30–79%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Dažnai (30–79%) | 2 ligose |
| IFT56intraflagellar transport 56 | Dažnai (30–79%) | 1 ligoje |
| ITGA6integrin subunit alpha 6 | Dažnai (30–79%) | 2 ligose |
| ITGB4integrin subunit beta 4 | Dažnai (30–79%) | 3 ligose |
| KAT6Blysine acetyltransferase 6B | Dažnai (30–79%) | 2 ligose |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Dažnai (30–79%) | 2 ligose |
| KCNK3potassium two pore domain channel subfamily K member 3 | Dažnai (30–79%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Dažnai (30–79%) | 2 ligose |
| KIF21Akinesin family member 21A | Dažnai (30–79%) | 1 ligoje |
| KLHL40kelch like family member 40 | Dažnai (30–79%) | 2 ligose |
| KLHL41kelch like family member 41 | Dažnai (30–79%) | 5 ligose |
| KMT2Dlysine methyltransferase 2D | Dažnai (30–79%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 3 ligose |
| LBRlamin B receptor | Dažnai (30–79%) | 1 ligoje |
| LMOD3leiomodin 3 | Dažnai (30–79%) | 3 ligose |
| LTBP3latent transforming growth factor beta binding protein 3 | Dažnai (30–79%) | 2 ligose |
| LZTR1leucine zipper like post translational regulator 1 | Dažnai (30–79%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 2 ligose |
| MAMLD1mastermind like domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 2 ligose |
| MDFICMyoD family inhibitor domain containing | Dažnai (30–79%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Dažnai (30–79%) | 1 ligoje |
| MTM1myotubularin 1 | Dažnai (30–79%) | 3 ligose |
| MTMR14myotubularin related protein 14 | Dažnai (30–79%) | 1 ligoje |
| MYF6myogenic factor 6 | Dažnai (30–79%) | 1 ligoje |
| MYH11myosin heavy chain 11 | Dažnai (30–79%) | 1 ligoje |
| MYL1myosin light chain 1 | Dažnai (30–79%) | 1 ligoje |
| MYLKmyosin light chain kinase | Dažnai (30–79%) | 1 ligoje |
| NEBnebulin | Dažnai (30–79%) | 6 ligose |
| NPHP3nephrocystin 3 | Dažnai (30–79%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| NUP88nucleoporin 88 | Dažnai (30–79%) | 2 ligose |
| OTUD5OTU deubiquitinase 5 | Dažnai (30–79%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Dažnai (30–79%) | 2 ligose |
| PCGF2polycomb group ring finger 2 | Dažnai (30–79%) | 1 ligoje |
| PHACTR1phosphatase and actin regulator 1 | Dažnai (30–79%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Dažnai (30–79%) | 2 ligose |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Dažnai (30–79%) | 1 ligoje |
| PRDM13PR/SET domain 13 | Dažnai (30–79%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| RAPSNreceptor associated protein of the synapse | Dažnai (30–79%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Dažnai (30–79%) | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 2 ligose |
| RRAS2RAS related 2 | Dažnai (30–79%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 3 ligose |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Dažnai (30–79%) | 1 ligoje |
| SLC18A3solute carrier family 18 member A3 | Dažnai (30–79%) | 1 ligoje |
| SLC25A12solute carrier family 25 member 12 | Dažnai (30–79%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Dažnai (30–79%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 3 ligose |
| SOX9SRY-box transcription factor 9 | Dažnai (30–79%) | 2 ligose |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Dažnai (30–79%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Dažnai (30–79%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Dažnai (30–79%) | 1 ligoje |
| TFAMtranscription factor A, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| TMCO1transmembrane and coiled-coil domains 1 | Dažnai (30–79%) | 2 ligose |
| TNNC2troponin C2, fast skeletal type | Dažnai (30–79%) | 1 ligoje |
| TPM3tropomyosin 3 | Dažnai (30–79%) | 3 ligose |
| TRIP11thyroid hormone receptor interactor 11 | Dažnai (30–79%) | 2 ligose |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Dažnai (30–79%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Dažnai (30–79%) | 2 ligose |
| TTC7Atetratricopeptide repeat domain 7A | Dažnai (30–79%) | 2 ligose |
| TUBA1Atubulin alpha 1a | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| VANGL2VANGL planar cell polarity protein 2 | Dažnai (30–79%) | 1 ligoje |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Dažnai (30–79%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Kartais (5–29%) | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Kartais (5–29%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Kartais (5–29%) | 1 ligoje |
| ASCL1achaete-scute family bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Kartais (5–29%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Kartais (5–29%) | 2 ligose |
| BCL11ABCL11 transcription factor A | Kartais (5–29%) | 1 ligoje |
| CBLCbl proto-oncogene | Kartais (5–29%) | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Kartais (5–29%) | 1 ligoje |
| CD96CD96 molecule | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CFL2cofilin 2 | Kartais (5–29%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Kartais (5–29%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| COASYCoenzyme A synthase | Kartais (5–29%) | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 2 ligose |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CSNK2A1casein kinase 2 alpha 1 | Kartais (5–29%) | 1 ligoje |
| DMPKDM1 protein kinase | Kartais (5–29%) | 2 ligose |
| DPF2double PHD fingers 2 | Kartais (5–29%) | 1 ligoje |
| DPH5diphthamide biosynthesis 5 | Kartais (5–29%) | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Kartais (5–29%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| ECE1endothelin converting enzyme 1 | Kartais (5–29%) | 1 ligoje |
| EDN3endothelin 3 | Kartais (5–29%) | 1 ligoje |
| EDNRBendothelin receptor type B | Kartais (5–29%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Kartais (5–29%) | 2 ligose |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Kartais (5–29%) | 1 ligoje |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Kartais (5–29%) | 2 ligose |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 2 ligose |
| EXT2exostosin glycosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kartais (5–29%) | 2 ligose |
| GDNFglial cell derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Kartais (5–29%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Kartais (5–29%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Kartais (5–29%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Kartais (5–29%) | 1 ligoje |
| KDM3Blysine demethylase 3B | Kartais (5–29%) | 1 ligoje |
| LMNAlamin A/C | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Kartais (5–29%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Kartais (5–29%) | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Kartais (5–29%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 2 ligose |
| MYL2myosin light chain 2 | Kartais (5–29%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Kartais (5–29%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Kartais (5–29%) | 1 ligoje |
| NPC2NPC intracellular cholesterol transporter 2 | Kartais (5–29%) | 1 ligoje |
| NRCAMneuronal cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| NRTNneurturin | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PHOX2Bpaired like homeobox 2B | Kartais (5–29%) | 1 ligoje |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Kartais (5–29%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Kartais (5–29%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Kartais (5–29%) | 1 ligoje |
| RAB34RAB34, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Kartais (5–29%) | 1 ligoje |
| RETret proto-oncogene | Kartais (5–29%) | 2 ligose |
| RREB1ras responsive element binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Kartais (5–29%) | 1 ligoje |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| SEMA3Csemaphorin 3C | Kartais (5–29%) | 1 ligoje |
| SEMA3Dsemaphorin 3D | Kartais (5–29%) | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Kartais (5–29%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Kartais (5–29%) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Kartais (5–29%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Kartais (5–29%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Kartais (5–29%) | 1 ligoje |
| SOX17SRY-box transcription factor 17 | Kartais (5–29%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Kartais (5–29%) | 1 ligoje |
| SREBF1sterol regulatory element binding transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 3 ligose |
| TRAPPC12trafficking protein particle complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Kartais (5–29%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Kartais (5–29%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Kartais (5–29%) | 1 ligoje |
| WDR81WD repeat domain 81 | Kartais (5–29%) | 1 ligoje |
| XPO1exportin 1 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Kartais (5–29%) | 2 ligose |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Retai (1–4 %) | 2 ligose |
| AQP2aquaporin 2 | Retai (1–4 %) | 1 ligoje |
| AVPR2arginine vasopressin receptor 2 | Retai (1–4 %) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Retai (1–4 %) | 1 ligoje |
| FOXF1forkhead box F1 | Retai (1–4 %) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Retai (1–4 %) | 1 ligoje |
| KBTBD13kelch repeat and BTB domain containing 13 | Retai (1–4 %) | 1 ligoje |
| MSX1msh homeobox 1 | Retai (1–4 %) | 1 ligoje |
| MYPNmyopalladin | Retai (1–4 %) | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Retai (1–4 %) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Retai (1–4 %) | 1 ligoje |
| TAF11TATA-box binding protein associated factor 11 | Retai (1–4 %) | 1 ligoje |
| TP63tumor protein p63 | Retai (1–4 %) | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Neužfiksuota | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Neužfiksuota | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Neužfiksuota | 1 ligoje |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Neužfiksuota | 1 ligoje |
| CHRNDcholinergic receptor nicotinic delta subunit | Neužfiksuota | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Neužfiksuota | 1 ligoje |
| CNTN1contactin 1 | Neužfiksuota | 1 ligoje |
| CRB2crumbs cell polarity complex component 2 | Neužfiksuota | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Neužfiksuota | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Neužfiksuota | 1 ligoje |
| FLVCR2FLVCR choline and putative heme transporter 2 | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| KIAA0586KIAA0586 | Neužfiksuota | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Neužfiksuota | 1 ligoje |
| MAGED2MAGE family member D2 | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Neužfiksuota | 1 ligoje |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Neužfiksuota | 1 ligoje |
| PLVAPplasmalemma vesicle associated protein | Neužfiksuota | 1 ligoje |
| RHDRh blood group D antigen | Neužfiksuota | 1 ligoje |
| RPL11ribosomal protein L11 | Neužfiksuota | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Neužfiksuota | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Neužfiksuota | 1 ligoje |
| SLC25A26solute carrier family 25 member 26 | Neužfiksuota | 1 ligoje |
| SLC26A3solute carrier family 26 member 3 | Neužfiksuota | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Neužfiksuota | 1 ligoje |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Neužfiksuota | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TRAIPTRAF interacting protein | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | 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.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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