Tunnus
High levels of amniotic fluid
Kliiniline nimetus: Polyhydramnios
The presence of excess amniotic fluid in the uterus during pregnancy.
Kokkuvõte
- Teised nimetused
- Hydramnios
- Kehasüsteem
- Abnormality of prenatal development or birth
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to High levels of amniotic fluid, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test335 geeni on seotud tunnusega High levels of amniotic fluid
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb High levels of amniotic fluid. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACTBactin beta | Alati | Esineb 1 haiguses |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Alati | Esineb 1 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Alati | Esineb 1 haiguses |
| ANO1anoctamin 1 | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Alati | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Alati | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alati | Esineb 1 haiguses |
| CALCRLcalcitonin receptor like receptor | Alati | Esineb 1 haiguses |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alati | Esineb 1 haiguses |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alati | Esineb 1 haiguses |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alati | Esineb 1 haiguses |
| DNM2dynamin 2 | Alati | Esineb 2 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Alati | Esineb 1 haiguses |
| EGFRepidermal growth factor receptor | Alati | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Alati | Esineb 2 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Alati | Esineb 5 haiguses |
| FHfumarate hydratase | Alati | Esineb 2 haiguses |
| FKBP14FKBP prolyl isomerase 14 | Alati | Esineb 1 haiguses |
| GBE11,4-alpha-glucan branching enzyme 1 | Alati | Esineb 1 haiguses |
| GLDNgliomedin | Alati | Esineb 2 haiguses |
| GPC3glypican 3 | Alati | Esineb 2 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Alati | Esineb 2 haiguses |
| IKZF1IKAROS family zinc finger 1 | Alati | Esineb 1 haiguses |
| INSRinsulin receptor | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LMOD1leiomodin 1 | Alati | Esineb 2 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| MYOD1myogenic differentiation 1 | Alati | Esineb 2 haiguses |
| NEXNnexilin F-actin binding protein | Alati | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Alati | Esineb 1 haiguses |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alati | Esineb 1 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alati | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Alati | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alati | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Alati | Esineb 1 haiguses |
| PRRX1paired related homeobox 1 | Alati | Esineb 2 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 3 haiguses |
Näita veel 295 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SCYL2SCY1 like pseudokinase 2 | Alati | Esineb 1 haiguses |
| SLC12A1solute carrier family 12 member 1 | Alati | Esineb 1 haiguses |
| SLC27A4solute carrier family 27 member 4 | Alati | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Alati | Esineb 1 haiguses |
| SLC9A3solute carrier family 9 member A3 | Alati | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Alati | Esineb 1 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alati | Esineb 1 haiguses |
| STRADASTE20 related adaptor alpha | Alati | Esineb 2 haiguses |
| TBC1D32TBC1 domain family member 32 | Alati | Esineb 1 haiguses |
| THOC2THO complex subunit 2 | Alati | Esineb 1 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| TOR1Atorsin family 1 member A | Alati | Esineb 1 haiguses |
| ZBTB42zinc finger and BTB domain containing 42 | Alati | Esineb 1 haiguses |
| ZIC3Zic family zinc finger 3 | Alati | Esineb 2 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUB3BUB3 mitotic checkpoint protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FANCBFA complementation group B | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXE1forkhead box E1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HOXD13homeobox D13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Väga sageli (80–99%) | Esineb 2 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KIF7kinesin family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| ODC1ornithine decarboxylase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| OTX2orthodenticle homeobox 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLECplectin | Väga sageli (80–99%) | Esineb 3 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| RSPO2R-spondin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SLC35D1solute carrier family 35 member D1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBX4T-box transcription factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRIP13thyroid hormone receptor interactor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WNT3Wnt family member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC6ATP binding cassette subfamily C member 6 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Sageli (30–79%) | Esineb 6 haiguses |
| ACTG2actin gamma 2, smooth muscle | Sageli (30–79%) | Esineb 2 haiguses |
| ADAMTSL2ADAMTS like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ADGRG6adhesion G protein-coupled receptor G6 | Sageli (30–79%) | Esineb 1 haiguses |
| AKT2AKT serine/threonine kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sageli (30–79%) | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BSNDbarttin CLCNK type accessory subunit beta | Sageli (30–79%) | Esineb 2 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Sageli (30–79%) | Esineb 2 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Sageli (30–79%) | Esineb 1 haiguses |
| CLCNKAchloride voltage-gated channel Ka | Sageli (30–79%) | Esineb 2 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Sageli (30–79%) | Esineb 2 haiguses |
| CNTNAP1contactin associated protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| COL2A1collagen type II alpha 1 chain | Sageli (30–79%) | Esineb 4 haiguses |
| DHCR77-dehydrocholesterol reductase | Sageli (30–79%) | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DOK7docking protein 7 | Sageli (30–79%) | Esineb 1 haiguses |
| DSTdystonin | Sageli (30–79%) | Esineb 2 haiguses |
| DTYMKdeoxythymidylate kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERFETS2 repressor factor | Sageli (30–79%) | Esineb 1 haiguses |
| FANCFFA complementation group F | Sageli (30–79%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FLNBfilamin B | Sageli (30–79%) | Esineb 4 haiguses |
| FUT8fucosyltransferase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Sageli (30–79%) | Esineb 1 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GRM7glutamate metabotropic receptor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| HBA1hemoglobin subunit alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HBA2hemoglobin subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HIC1HIC ZBTB transcriptional repressor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 2 haiguses |
| IFT56intraflagellar transport 56 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGA6integrin subunit alpha 6 | Sageli (30–79%) | Esineb 2 haiguses |
| ITGB4integrin subunit beta 4 | Sageli (30–79%) | Esineb 3 haiguses |
| KAT6Blysine acetyltransferase 6B | Sageli (30–79%) | Esineb 2 haiguses |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Sageli (30–79%) | Esineb 2 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Sageli (30–79%) | Esineb 2 haiguses |
| KIF21Akinesin family member 21A | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL40kelch like family member 40 | Sageli (30–79%) | Esineb 2 haiguses |
| KLHL41kelch like family member 41 | Sageli (30–79%) | Esineb 5 haiguses |
| KMT2Dlysine methyltransferase 2D | Sageli (30–79%) | Esineb 2 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 3 haiguses |
| LBRlamin B receptor | Sageli (30–79%) | Esineb 1 haiguses |
| LMOD3leiomodin 3 | Sageli (30–79%) | Esineb 3 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Sageli (30–79%) | Esineb 2 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 2 haiguses |
| MAMLD1mastermind like domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MDFICMyoD family inhibitor domain containing | Sageli (30–79%) | Esineb 1 haiguses |
| MTHFRmethylenetetrahydrofolate reductase | Sageli (30–79%) | Esineb 1 haiguses |
| MTM1myotubularin 1 | Sageli (30–79%) | Esineb 3 haiguses |
| MTMR14myotubularin related protein 14 | Sageli (30–79%) | Esineb 1 haiguses |
| MYF6myogenic factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MYH11myosin heavy chain 11 | Sageli (30–79%) | Esineb 1 haiguses |
| MYL1myosin light chain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MYLKmyosin light chain kinase | Sageli (30–79%) | Esineb 1 haiguses |
| NEBnebulin | Sageli (30–79%) | Esineb 6 haiguses |
| NPHP3nephrocystin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| NUP88nucleoporin 88 | Sageli (30–79%) | Esineb 2 haiguses |
| OTUD5OTU deubiquitinase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PCGF2polycomb group ring finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PHACTR1phosphatase and actin regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sageli (30–79%) | Esineb 2 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sageli (30–79%) | Esineb 1 haiguses |
| PRDM13PR/SET domain 13 | Sageli (30–79%) | Esineb 1 haiguses |
| PSAT1phosphoserine aminotransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| RAPSNreceptor associated protein of the synapse | Sageli (30–79%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RMND1required for meiotic nuclear division 1 homolog | Sageli (30–79%) | Esineb 1 haiguses |
| RPL10ribosomal protein L10 | Sageli (30–79%) | Esineb 2 haiguses |
| RRAS2RAS related 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Sageli (30–79%) | Esineb 3 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Sageli (30–79%) | Esineb 1 haiguses |
| SLC18A3solute carrier family 18 member A3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A12solute carrier family 25 member 12 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A46solute carrier family 25 member 46 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 3 haiguses |
| SOX9SRY-box transcription factor 9 | Sageli (30–79%) | Esineb 2 haiguses |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Sageli (30–79%) | Esineb 1 haiguses |
| TFAMtranscription factor A, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TNNC2troponin C2, fast skeletal type | Sageli (30–79%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Sageli (30–79%) | Esineb 3 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Sageli (30–79%) | Esineb 2 haiguses |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Sageli (30–79%) | Esineb 2 haiguses |
| TTC7Atetratricopeptide repeat domain 7A | Sageli (30–79%) | Esineb 2 haiguses |
| TUBA1Atubulin alpha 1a | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VANGL2VANGL planar cell polarity protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Sageli (30–79%) | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADARB1adenosine deaminase RNA specific B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASCL1achaete-scute family bHLH transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| BCL11ABCL11 transcription factor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC47coiled-coil domain containing 47 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CD96CD96 molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK13cyclin dependent kinase 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFL2cofilin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD8chromodomain helicase DNA binding protein 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COASYCoenzyme A synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL1A2collagen type I alpha 2 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSNK2A1casein kinase 2 alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DMPKDM1 protein kinase | Mõnikord (5–29%) | Esineb 2 haiguses |
| DPF2double PHD fingers 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH5diphthamide biosynthesis 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ECE1endothelin converting enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDN3endothelin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDNRBendothelin receptor type B | Mõnikord (5–29%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| EXT2exostosin glycosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Mõnikord (5–29%) | Esineb 2 haiguses |
| GDNFglial cell derived neurotrophic factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGA7integrin subunit alpha 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM3Blysine demethylase 3B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNAlamin A/C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MOGSmannosyl-oligosaccharide glucosidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MYL2myosin light chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPAP1nuclear pore associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPC2NPC intracellular cholesterol transporter 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRCAMneuronal cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRTNneurturin | Mõnikord (5–29%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHOX2Bpaired like homeobox 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB34RAB34, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RETret proto-oncogene | Mõnikord (5–29%) | Esineb 2 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Csemaphorin 3C | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Dsemaphorin 3D | Mõnikord (5–29%) | Esineb 1 haiguses |
| SGSM3small G protein signaling modulator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX17SRY-box transcription factor 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SREBF1sterol regulatory element binding transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| TRAPPC12trafficking protein particle complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| WBP4WW domain binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR81WD repeat domain 81 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPO1exportin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Harva (1–4%) | Esineb 2 haiguses |
| AQP2aquaporin 2 | Harva (1–4%) | Esineb 1 haiguses |
| AVPR2arginine vasopressin receptor 2 | Harva (1–4%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Harva (1–4%) | Esineb 1 haiguses |
| FOXF1forkhead box F1 | Harva (1–4%) | Esineb 1 haiguses |
| IRF6interferon regulatory factor 6 | Harva (1–4%) | Esineb 1 haiguses |
| KBTBD13kelch repeat and BTB domain containing 13 | Harva (1–4%) | Esineb 1 haiguses |
| MSX1msh homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| MYPNmyopalladin | Harva (1–4%) | Esineb 1 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Harva (1–4%) | Esineb 1 haiguses |
| TAF11TATA-box binding protein associated factor 11 | Harva (1–4%) | Esineb 1 haiguses |
| TP63tumor protein p63 | Harva (1–4%) | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Pole registreeritud | Esineb 1 haiguses |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Pole registreeritud | Esineb 1 haiguses |
| CHRNDcholinergic receptor nicotinic delta subunit | Pole registreeritud | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Pole registreeritud | Esineb 1 haiguses |
| CNTN1contactin 1 | Pole registreeritud | Esineb 1 haiguses |
| CRB2crumbs cell polarity complex component 2 | Pole registreeritud | Esineb 1 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Pole registreeritud | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Pole registreeritud | Esineb 1 haiguses |
| FLVCR2FLVCR choline and putative heme transporter 2 | Pole registreeritud | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Pole registreeritud | Esineb 1 haiguses |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Pole registreeritud | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Pole registreeritud | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| MAGED2MAGE family member D2 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Pole registreeritud | Esineb 1 haiguses |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Pole registreeritud | Esineb 1 haiguses |
| PLVAPplasmalemma vesicle associated protein | Pole registreeritud | Esineb 1 haiguses |
| RHDRh blood group D antigen | Pole registreeritud | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Pole registreeritud | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Pole registreeritud | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Pole registreeritud | Esineb 1 haiguses |
| SLC25A26solute carrier family 25 member 26 | Pole registreeritud | Esineb 1 haiguses |
| SLC26A3solute carrier family 26 member 3 | Pole registreeritud | Esineb 1 haiguses |
| SMG9SMG9 nonsense mediated mRNA decay factor | Pole registreeritud | Esineb 1 haiguses |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Pole registreeritud | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | Pole registreeritud | Esineb 1 haiguses |
| TRAIPTRAF interacting protein | Pole registreeritud | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast