Cecha
High levels of amniotic fluid
Nazwa kliniczna: Polyhydramnios
The presence of excess amniotic fluid in the uterus during pregnancy.
Podsumowanie
- Znana także jako
- Hydramnios
- Układ organizmu
- Abnormality of prenatal development or birth
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to High levels of amniotic fluid, and the rest of your genome, with one test.
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Zamawiam Genome Test335 genów powiązanych z High levels of amniotic fluid
Zmiany w tych genach powodują rzadkie choroby, w których występuje High levels of amniotic fluid. 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 |
|---|---|---|
| ACTBactin beta | Zawsze | W 1 chorobie |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Zawsze | W 1 chorobie |
| AMMECR1AMMECR nuclear protein 1 | Zawsze | W 1 chorobie |
| ANO1anoctamin 1 | Zawsze | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Zawsze | W 1 chorobie |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Zawsze | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Zawsze | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Zawsze | W 1 chorobie |
| CALCRLcalcitonin receptor like receptor | Zawsze | W 1 chorobie |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Zawsze | W 1 chorobie |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Zawsze | W 1 chorobie |
| DMRT2doublesex and mab-3 related transcription factor 2 | Zawsze | W 1 chorobie |
| DNM2dynamin 2 | Zawsze | W 2 chorobach |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Zawsze | W 1 chorobie |
| EGFRepidermal growth factor receptor | Zawsze | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Zawsze | W 2 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Zawsze | W 5 chorobach |
| FHfumarate hydratase | Zawsze | W 2 chorobach |
| FKBP14FKBP prolyl isomerase 14 | Zawsze | W 1 chorobie |
| GBE11,4-alpha-glucan branching enzyme 1 | Zawsze | W 1 chorobie |
| GLDNgliomedin | Zawsze | W 2 chorobach |
| GPC3glypican 3 | Zawsze | W 2 chorobach |
| IBA57iron-sulfur cluster assembly factor IBA57 | Zawsze | W 2 chorobach |
| IKZF1IKAROS family zinc finger 1 | Zawsze | W 1 chorobie |
| INSRinsulin receptor | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| LMOD1leiomodin 1 | Zawsze | W 2 chorobach |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| MYOD1myogenic differentiation 1 | Zawsze | W 2 chorobach |
| NEXNnexilin F-actin binding protein | Zawsze | W 1 chorobie |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Zawsze | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Zawsze | W 1 chorobie |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Zawsze | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Zawsze | W 1 chorobie |
| PRRX1paired related homeobox 1 | Zawsze | W 2 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Zawsze | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Zawsze | W 3 chorobach |
Pokaż jeszcze 295 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| SCYL2SCY1 like pseudokinase 2 | Zawsze | W 1 chorobie |
| SLC12A1solute carrier family 12 member 1 | Zawsze | W 1 chorobie |
| SLC27A4solute carrier family 27 member 4 | Zawsze | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Zawsze | W 1 chorobie |
| SLC9A3solute carrier family 9 member A3 | Zawsze | W 1 chorobie |
| SOD1superoxide dismutase 1 | Zawsze | W 1 chorobie |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Zawsze | W 1 chorobie |
| STRADASTE20 related adaptor alpha | Zawsze | W 2 chorobach |
| TBC1D32TBC1 domain family member 32 | Zawsze | W 1 chorobie |
| THOC2THO complex subunit 2 | Zawsze | W 1 chorobie |
| TM2D3TM2 domain containing 3 | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| ZBTB42zinc finger and BTB domain containing 42 | Zawsze | W 1 chorobie |
| ZIC3Zic family zinc finger 3 | Zawsze | W 2 chorobach |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Bardzo często (80–99%) | W 1 chorobie |
| BUB3BUB3 mitotic checkpoint protein | Bardzo często (80–99%) | W 1 chorobie |
| CEP57centrosomal protein 57 | Bardzo często (80–99%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Bardzo często (80–99%) | W 3 chorobach |
| FANCBFA complementation group B | Bardzo często (80–99%) | W 1 chorobie |
| FOXE1forkhead box E1 | Bardzo często (80–99%) | W 2 chorobach |
| HOXD13homeobox D13 | Bardzo często (80–99%) | W 1 chorobie |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Bardzo często (80–99%) | W 2 chorobach |
| INPPL1inositol polyphosphate phosphatase like 1 | Bardzo często (80–99%) | W 2 chorobach |
| KIF7kinesin family member 7 | Bardzo często (80–99%) | W 1 chorobie |
| MEG3maternally expressed 3 | Bardzo często (80–99%) | W 3 chorobach |
| MUSKmuscle associated receptor tyrosine kinase | Bardzo często (80–99%) | W 2 chorobach |
| ODC1ornithine decarboxylase 1 | Bardzo często (80–99%) | W 2 chorobach |
| OTX2orthodenticle homeobox 2 | Bardzo często (80–99%) | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Bardzo często (80–99%) | W 1 chorobie |
| PLECplectin | Bardzo często (80–99%) | W 3 chorobach |
| PTH1Rparathyroid hormone 1 receptor | Bardzo często (80–99%) | W 2 chorobach |
| RSPO2R-spondin 2 | Bardzo często (80–99%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Bardzo często (80–99%) | W 3 chorobach |
| SLC35D1solute carrier family 35 member D1 | Bardzo często (80–99%) | W 2 chorobach |
| TBX4T-box transcription factor 4 | Bardzo często (80–99%) | W 1 chorobie |
| TRIP13thyroid hormone receptor interactor 13 | Bardzo często (80–99%) | W 1 chorobie |
| WNT3Wnt family member 3 | Bardzo często (80–99%) | W 1 chorobie |
| ABCC6ATP binding cassette subfamily C member 6 | Często (30–79%) | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Często (30–79%) | W 6 chorobach |
| ACTG2actin gamma 2, smooth muscle | Często (30–79%) | W 2 chorobach |
| ADAMTSL2ADAMTS like 2 | Często (30–79%) | W 1 chorobie |
| ADGRG6adhesion G protein-coupled receptor G6 | Często (30–79%) | W 1 chorobie |
| AKT2AKT serine/threonine kinase 2 | Często (30–79%) | W 1 chorobie |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Często (30–79%) | W 1 chorobie |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Często (30–79%) | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Często (30–79%) | W 1 chorobie |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Często (30–79%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Często (30–79%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Często (30–79%) | W 1 chorobie |
| BIN1bridging integrator 1 | Często (30–79%) | W 1 chorobie |
| BSNDbarttin CLCNK type accessory subunit beta | Często (30–79%) | W 2 chorobach |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 2 chorobach |
| CLCN7Cl-/H+ antiporter 7 | Często (30–79%) | W 1 chorobie |
| CLCNKAchloride voltage-gated channel Ka | Często (30–79%) | W 2 chorobach |
| CLCNKBchloride voltage-gated channel Kb | Często (30–79%) | W 2 chorobach |
| CNTNAP1contactin associated protein 1 | Często (30–79%) | W 2 chorobach |
| COL2A1collagen type II alpha 1 chain | Często (30–79%) | W 4 chorobach |
| DHCR77-dehydrocholesterol reductase | Często (30–79%) | W 1 chorobie |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Często (30–79%) | W 1 chorobie |
| DOK7docking protein 7 | Często (30–79%) | W 1 chorobie |
| DSTdystonin | Często (30–79%) | W 2 chorobach |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Często (30–79%) | W 1 chorobie |
| ERFETS2 repressor factor | Często (30–79%) | W 1 chorobie |
| FANCFFA complementation group F | Często (30–79%) | W 1 chorobie |
| FBN1fibrillin 1 | Często (30–79%) | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Często (30–79%) | W 1 chorobie |
| FLNBfilamin B | Często (30–79%) | W 4 chorobach |
| FUT8fucosyltransferase 8 | Często (30–79%) | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Często (30–79%) | W 1 chorobie |
| GPC4glypican 4 | Często (30–79%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Często (30–79%) | W 1 chorobie |
| HBA1hemoglobin subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| HBA2hemoglobin subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| HIC1HIC ZBTB transcriptional repressor 1 | Często (30–79%) | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Często (30–79%) | W 2 chorobach |
| IFT56intraflagellar transport 56 | Często (30–79%) | W 1 chorobie |
| ITGA6integrin subunit alpha 6 | Często (30–79%) | W 2 chorobach |
| ITGB4integrin subunit beta 4 | Często (30–79%) | W 3 chorobach |
| KAT6Blysine acetyltransferase 6B | Często (30–79%) | W 2 chorobach |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Często (30–79%) | W 2 chorobach |
| KCNK3potassium two pore domain channel subfamily K member 3 | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 1 chorobie |
| KIDINS220kinase D interacting substrate 220 | Często (30–79%) | W 2 chorobach |
| KIF21Akinesin family member 21A | Często (30–79%) | W 1 chorobie |
| KLHL40kelch like family member 40 | Często (30–79%) | W 2 chorobach |
| KLHL41kelch like family member 41 | Często (30–79%) | W 5 chorobach |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Często (30–79%) | W 3 chorobach |
| LBRlamin B receptor | Często (30–79%) | W 1 chorobie |
| LMOD3leiomodin 3 | Często (30–79%) | W 3 chorobach |
| LTBP3latent transforming growth factor beta binding protein 3 | Często (30–79%) | W 2 chorobach |
| LZTR1leucine zipper like post translational regulator 1 | Często (30–79%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Często (30–79%) | W 2 chorobach |
| MAMLD1mastermind like domain containing 1 | Często (30–79%) | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Często (30–79%) | W 2 chorobach |
| MDFICMyoD family inhibitor domain containing | Często (30–79%) | W 1 chorobie |
| MTHFRmethylenetetrahydrofolate reductase | Często (30–79%) | W 1 chorobie |
| MTM1myotubularin 1 | Często (30–79%) | W 3 chorobach |
| MTMR14myotubularin related protein 14 | Często (30–79%) | W 1 chorobie |
| MYF6myogenic factor 6 | Często (30–79%) | W 1 chorobie |
| MYH11myosin heavy chain 11 | Często (30–79%) | W 1 chorobie |
| MYL1myosin light chain 1 | Często (30–79%) | W 1 chorobie |
| MYLKmyosin light chain kinase | Często (30–79%) | W 1 chorobie |
| NEBnebulin | Często (30–79%) | W 6 chorobach |
| NPHP3nephrocystin 3 | Często (30–79%) | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Często (30–79%) | W 1 chorobie |
| NUP88nucleoporin 88 | Często (30–79%) | W 2 chorobach |
| OTUD5OTU deubiquitinase 5 | Często (30–79%) | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Często (30–79%) | W 2 chorobach |
| PCGF2polycomb group ring finger 2 | Często (30–79%) | W 1 chorobie |
| PHACTR1phosphatase and actin regulator 1 | Często (30–79%) | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Często (30–79%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Często (30–79%) | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Często (30–79%) | W 2 chorobach |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Często (30–79%) | W 1 chorobie |
| PRDM13PR/SET domain 13 | Często (30–79%) | W 1 chorobie |
| PSAT1phosphoserine aminotransferase 1 | Często (30–79%) | W 1 chorobie |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| RAPSNreceptor associated protein of the synapse | Często (30–79%) | W 1 chorobie |
| RIT1Ras like without CAAX 1 | Często (30–79%) | W 1 chorobie |
| RMND1required for meiotic nuclear division 1 homolog | Często (30–79%) | W 1 chorobie |
| RPL10ribosomal protein L10 | Często (30–79%) | W 2 chorobach |
| RRAS2RAS related 2 | Często (30–79%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Często (30–79%) | W 3 chorobach |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Często (30–79%) | W 1 chorobie |
| SEMA3Esemaphorin 3E | Często (30–79%) | W 1 chorobie |
| SLC18A3solute carrier family 18 member A3 | Często (30–79%) | W 1 chorobie |
| SLC25A12solute carrier family 25 member 12 | Często (30–79%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Często (30–79%) | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Często (30–79%) | W 3 chorobach |
| SOX9SRY-box transcription factor 9 | Często (30–79%) | W 2 chorobach |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Często (30–79%) | W 1 chorobie |
| SPRED2sprouty related EVH1 domain containing 2 | Często (30–79%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Często (30–79%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Często (30–79%) | W 1 chorobie |
| TFAMtranscription factor A, mitochondrial | Często (30–79%) | W 1 chorobie |
| TMCO1transmembrane and coiled-coil domains 1 | Często (30–79%) | W 2 chorobach |
| TNNC2troponin C2, fast skeletal type | Często (30–79%) | W 1 chorobie |
| TPM3tropomyosin 3 | Często (30–79%) | W 3 chorobach |
| TRIP11thyroid hormone receptor interactor 11 | Często (30–79%) | W 2 chorobach |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Często (30–79%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Często (30–79%) | W 2 chorobach |
| TTC7Atetratricopeptide repeat domain 7A | Często (30–79%) | W 2 chorobach |
| TUBA1Atubulin alpha 1a | Często (30–79%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Często (30–79%) | W 1 chorobie |
| VANGL2VANGL planar cell polarity protein 2 | Często (30–79%) | W 1 chorobie |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Często (30–79%) | W 1 chorobie |
| ABCD1ATP binding cassette subfamily D member 1 | Czasami (5–29%) | W 1 chorobie |
| ADARB1adenosine deaminase RNA specific B1 | Czasami (5–29%) | W 1 chorobie |
| ADAT3adenosine deaminase tRNA specific 3 | Czasami (5–29%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| ASCL1achaete-scute family bHLH transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Czasami (5–29%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Czasami (5–29%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Czasami (5–29%) | W 2 chorobach |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| CBLCbl proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| CCDC47coiled-coil domain containing 47 | Czasami (5–29%) | W 1 chorobie |
| CD96CD96 molecule | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CDK13cyclin dependent kinase 13 | Czasami (5–29%) | W 1 chorobie |
| CFL2cofilin 2 | Czasami (5–29%) | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Czasami (5–29%) | W 1 chorobie |
| CILK1ciliogenesis associated kinase 1 | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| COASYCoenzyme A synthase | Czasami (5–29%) | W 1 chorobie |
| COL11A2collagen type XI alpha 2 chain | Czasami (5–29%) | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COL1A2collagen type I alpha 2 chain | Czasami (5–29%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Czasami (5–29%) | W 2 chorobach |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CSNK2A1casein kinase 2 alpha 1 | Czasami (5–29%) | W 1 chorobie |
| DMPKDM1 protein kinase | Czasami (5–29%) | W 2 chorobach |
| DPF2double PHD fingers 2 | Czasami (5–29%) | W 1 chorobie |
| DPH5diphthamide biosynthesis 5 | Czasami (5–29%) | W 1 chorobie |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Czasami (5–29%) | W 1 chorobie |
| DYNC2I2dynein 2 intermediate chain 2 | Czasami (5–29%) | W 1 chorobie |
| ECE1endothelin converting enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| EDN3endothelin 3 | Czasami (5–29%) | W 1 chorobie |
| EDNRBendothelin receptor type B | Czasami (5–29%) | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Czasami (5–29%) | W 2 chorobach |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Czasami (5–29%) | W 2 chorobach |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Czasami (5–29%) | W 2 chorobach |
| EXT2exostosin glycosyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Czasami (5–29%) | W 2 chorobach |
| GDNFglial cell derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Czasami (5–29%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| IPO8importin 8 | Czasami (5–29%) | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Czasami (5–29%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Czasami (5–29%) | W 1 chorobie |
| KDM3Blysine demethylase 3B | Czasami (5–29%) | W 1 chorobie |
| LMNAlamin A/C | Czasami (5–29%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Czasami (5–29%) | W 1 chorobie |
| MAFBMAF bZIP transcription factor B | Czasami (5–29%) | W 1 chorobie |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Czasami (5–29%) | W 1 chorobie |
| MKRN3makorin ring finger protein 3 | Czasami (5–29%) | W 1 chorobie |
| MOGSmannosyl-oligosaccharide glucosidase | Czasami (5–29%) | W 1 chorobie |
| MYH3myosin heavy chain 3 | Czasami (5–29%) | W 2 chorobach |
| MYL2myosin light chain 2 | Czasami (5–29%) | W 1 chorobie |
| NALCNsodium leak channel, non-selective | Czasami (5–29%) | W 1 chorobie |
| NPAP1nuclear pore associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| NPC2NPC intracellular cholesterol transporter 2 | Czasami (5–29%) | W 1 chorobie |
| NRCAMneuronal cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| NRTNneurturin | Czasami (5–29%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Czasami (5–29%) | W 1 chorobie |
| PHOX2Bpaired like homeobox 2B | Czasami (5–29%) | W 1 chorobie |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Czasami (5–29%) | W 1 chorobie |
| PWAR1Prader Willi/Angelman region RNA 1 | Czasami (5–29%) | W 1 chorobie |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Czasami (5–29%) | W 1 chorobie |
| RAB34RAB34, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RELREL proto-oncogene, NF-kB subunit | Czasami (5–29%) | W 1 chorobie |
| RETret proto-oncogene | Czasami (5–29%) | W 2 chorobach |
| RREB1ras responsive element binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SELENONselenoprotein N | Czasami (5–29%) | W 1 chorobie |
| SEMA3Csemaphorin 3C | Czasami (5–29%) | W 1 chorobie |
| SEMA3Dsemaphorin 3D | Czasami (5–29%) | W 1 chorobie |
| SGSM3small G protein signaling modulator 3 | Czasami (5–29%) | W 1 chorobie |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Czasami (5–29%) | W 1 chorobie |
| SMOsmoothened, frizzled class receptor | Czasami (5–29%) | W 1 chorobie |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Czasami (5–29%) | W 1 chorobie |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Czasami (5–29%) | W 1 chorobie |
| SOX17SRY-box transcription factor 17 | Czasami (5–29%) | W 1 chorobie |
| SPOPspeckle type BTB/POZ protein | Czasami (5–29%) | W 1 chorobie |
| SREBF1sterol regulatory element binding transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Czasami (5–29%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Czasami (5–29%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| TPM2tropomyosin 2 | Czasami (5–29%) | W 3 chorobach |
| TRAPPC12trafficking protein particle complex subunit 12 | Czasami (5–29%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Czasami (5–29%) | W 1 chorobie |
| WBP4WW domain binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| WDR81WD repeat domain 81 | Czasami (5–29%) | W 1 chorobie |
| XPO1exportin 1 | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZMPSTE24zinc metallopeptidase STE24 | Czasami (5–29%) | W 2 chorobach |
| ZNF699zinc finger protein 699 | Czasami (5–29%) | W 1 chorobie |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Rzadko (1–4%) | W 2 chorobach |
| AQP2aquaporin 2 | Rzadko (1–4%) | W 1 chorobie |
| AVPR2arginine vasopressin receptor 2 | Rzadko (1–4%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rzadko (1–4%) | W 1 chorobie |
| FOXF1forkhead box F1 | Rzadko (1–4%) | W 1 chorobie |
| IRF6interferon regulatory factor 6 | Rzadko (1–4%) | W 1 chorobie |
| KBTBD13kelch repeat and BTB domain containing 13 | Rzadko (1–4%) | W 1 chorobie |
| MSX1msh homeobox 1 | Rzadko (1–4%) | W 1 chorobie |
| MYPNmyopalladin | Rzadko (1–4%) | W 1 chorobie |
| NECTIN1nectin cell adhesion molecule 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Rzadko (1–4%) | W 1 chorobie |
| TAF11TATA-box binding protein associated factor 11 | Rzadko (1–4%) | W 1 chorobie |
| TP63tumor protein p63 | Rzadko (1–4%) | W 1 chorobie |
| ALPLalkaline phosphatase, biomineralization associated | Nie odnotowano | W 1 chorobie |
| AMER1APC membrane recruitment protein 1 | Nie odnotowano | W 1 chorobie |
| ASXL1ASXL transcriptional regulator 1 | Nie odnotowano | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nie odnotowano | W 1 chorobie |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Nie odnotowano | W 1 chorobie |
| CHRNDcholinergic receptor nicotinic delta subunit | Nie odnotowano | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Nie odnotowano | W 1 chorobie |
| CNTN1contactin 1 | Nie odnotowano | W 1 chorobie |
| CRB2crumbs cell polarity complex component 2 | Nie odnotowano | W 1 chorobie |
| DYNC2I1dynein 2 intermediate chain 1 | Nie odnotowano | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Nie odnotowano | W 1 chorobie |
| FLVCR2FLVCR choline and putative heme transporter 2 | Nie odnotowano | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Nie odnotowano | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Nie odnotowano | W 1 chorobie |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Nie odnotowano | W 1 chorobie |
| KIAA0586KIAA0586 | Nie odnotowano | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Nie odnotowano | W 1 chorobie |
| MAGED2MAGE family member D2 | Nie odnotowano | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nie odnotowano | W 1 chorobie |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Nie odnotowano | W 1 chorobie |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Nie odnotowano | W 1 chorobie |
| PLVAPplasmalemma vesicle associated protein | Nie odnotowano | W 1 chorobie |
| RHDRh blood group D antigen | Nie odnotowano | W 1 chorobie |
| RPL11ribosomal protein L11 | Nie odnotowano | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Nie odnotowano | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Nie odnotowano | W 1 chorobie |
| SLC25A26solute carrier family 25 member 26 | Nie odnotowano | W 1 chorobie |
| SLC26A3solute carrier family 26 member 3 | Nie odnotowano | W 1 chorobie |
| SMG9SMG9 nonsense mediated mRNA decay factor | Nie odnotowano | W 1 chorobie |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Nie odnotowano | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nie odnotowano | W 1 chorobie |
| TAPT1transmembrane anterior posterior transformation 1 | Nie odnotowano | W 1 chorobie |
| TRAIPTRAF interacting protein | Nie odnotowano | W 1 chorobie |
| WDR35WD repeat domain 35 | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | 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 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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