Træk
High levels of amniotic fluid
Klinisk navn: Polyhydramnios
The presence of excess amniotic fluid in the uterus during pregnancy.
Resumé
- Også kaldet
- Hydramnios
- Kropssystem
- Abnormality of prenatal development or birth
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test335 gener knyttet til High levels of amniotic fluid
Ændringer i disse gener forårsager sjældne tilstande, hvor High levels of amniotic fluid ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACTBactin beta | Altid | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Altid | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Altid | I 1 tilstand |
| ANO1anoctamin 1 | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Altid | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Altid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altid | I 1 tilstand |
| CALCRLcalcitonin receptor like receptor | Altid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| DMRT2doublesex and mab-3 related transcription factor 2 | Altid | I 1 tilstand |
| DNM2dynamin 2 | Altid | I 2 tilstande |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Altid | I 1 tilstand |
| EGFRepidermal growth factor receptor | Altid | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Altid | I 2 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Altid | I 5 tilstande |
| FHfumarate hydratase | Altid | I 2 tilstande |
| FKBP14FKBP prolyl isomerase 14 | Altid | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Altid | I 1 tilstand |
| GLDNgliomedin | Altid | I 2 tilstande |
| GPC3glypican 3 | Altid | I 2 tilstande |
| IBA57iron-sulfur cluster assembly factor IBA57 | Altid | I 2 tilstande |
| IKZF1IKAROS family zinc finger 1 | Altid | I 1 tilstand |
| INSRinsulin receptor | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| LMOD1leiomodin 1 | Altid | I 2 tilstande |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Altid | I 2 tilstande |
| NEXNnexilin F-actin binding protein | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Altid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Altid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Altid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Altid | I 1 tilstand |
| PRRX1paired related homeobox 1 | Altid | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Altid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altid | I 3 tilstande |
Vis 295 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| SCYL2SCY1 like pseudokinase 2 | Altid | I 1 tilstand |
| SLC12A1solute carrier family 12 member 1 | Altid | I 1 tilstand |
| SLC27A4solute carrier family 27 member 4 | Altid | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Altid | I 1 tilstand |
| SLC9A3solute carrier family 9 member A3 | Altid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Altid | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altid | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Altid | I 2 tilstande |
| TBC1D32TBC1 domain family member 32 | Altid | I 1 tilstand |
| THOC2THO complex subunit 2 | Altid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| ZBTB42zinc finger and BTB domain containing 42 | Altid | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Altid | I 2 tilstande |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Meget ofte (80–99 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Meget ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Meget ofte (80–99 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Meget ofte (80–99 %) | I 3 tilstande |
| FANCBFA complementation group B | Meget ofte (80–99 %) | I 1 tilstand |
| FOXE1forkhead box E1 | Meget ofte (80–99 %) | I 2 tilstande |
| HOXD13homeobox D13 | Meget ofte (80–99 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Meget ofte (80–99 %) | I 2 tilstande |
| INPPL1inositol polyphosphate phosphatase like 1 | Meget ofte (80–99 %) | I 2 tilstande |
| KIF7kinesin family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Meget ofte (80–99 %) | I 3 tilstande |
| MUSKmuscle associated receptor tyrosine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| ODC1ornithine decarboxylase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| OTX2orthodenticle homeobox 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Meget ofte (80–99 %) | I 1 tilstand |
| PLECplectin | Meget ofte (80–99 %) | I 3 tilstande |
| PTH1Rparathyroid hormone 1 receptor | Meget ofte (80–99 %) | I 2 tilstande |
| RSPO2R-spondin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SLC35D1solute carrier family 35 member D1 | Meget ofte (80–99 %) | I 2 tilstande |
| TBX4T-box transcription factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 6 tilstande |
| ACTG2actin gamma 2, smooth muscle | Ofte (30–79 %) | I 2 tilstande |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Ofte (30–79 %) | I 1 tilstand |
| AKT2AKT serine/threonine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Ofte (30–79 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ofte (30–79 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ofte (30–79 %) | I 2 tilstande |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 2 tilstande |
| CLCN7Cl-/H+ antiporter 7 | Ofte (30–79 %) | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ofte (30–79 %) | I 2 tilstande |
| CLCNKBchloride voltage-gated channel Kb | Ofte (30–79 %) | I 2 tilstande |
| CNTNAP1contactin associated protein 1 | Ofte (30–79 %) | I 2 tilstande |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 4 tilstande |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DOK7docking protein 7 | Ofte (30–79 %) | I 1 tilstand |
| DSTdystonin | Ofte (30–79 %) | I 2 tilstande |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| ERFETS2 repressor factor | Ofte (30–79 %) | I 1 tilstand |
| FANCFFA complementation group F | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| FLNBfilamin B | Ofte (30–79 %) | I 4 tilstande |
| FUT8fucosyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| HIC1HIC ZBTB transcriptional repressor 1 | Ofte (30–79 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ofte (30–79 %) | I 2 tilstande |
| IFT56intraflagellar transport 56 | Ofte (30–79 %) | I 1 tilstand |
| ITGA6integrin subunit alpha 6 | Ofte (30–79 %) | I 2 tilstande |
| ITGB4integrin subunit beta 4 | Ofte (30–79 %) | I 3 tilstande |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 2 tilstande |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 2 tilstande |
| KCNK3potassium two pore domain channel subfamily K member 3 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 2 tilstande |
| KIF21Akinesin family member 21A | Ofte (30–79 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Ofte (30–79 %) | I 2 tilstande |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 5 tilstande |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstande |
| LBRlamin B receptor | Ofte (30–79 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Ofte (30–79 %) | I 3 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Ofte (30–79 %) | I 2 tilstande |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 2 tilstande |
| MAMLD1mastermind like domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| MDFICMyoD family inhibitor domain containing | Ofte (30–79 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Ofte (30–79 %) | I 1 tilstand |
| MTM1myotubularin 1 | Ofte (30–79 %) | I 3 tilstande |
| MTMR14myotubularin related protein 14 | Ofte (30–79 %) | I 1 tilstand |
| MYF6myogenic factor 6 | Ofte (30–79 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Ofte (30–79 %) | I 1 tilstand |
| MYL1myosin light chain 1 | Ofte (30–79 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Ofte (30–79 %) | I 1 tilstand |
| NEBnebulin | Ofte (30–79 %) | I 6 tilstande |
| NPHP3nephrocystin 3 | Ofte (30–79 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| NUP88nucleoporin 88 | Ofte (30–79 %) | I 2 tilstande |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| PCGF2polycomb group ring finger 2 | Ofte (30–79 %) | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 2 tilstande |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| PRDM13PR/SET domain 13 | Ofte (30–79 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Ofte (30–79 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 2 tilstande |
| RRAS2RAS related 2 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Ofte (30–79 %) | I 1 tilstand |
| SLC18A3solute carrier family 18 member A3 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 3 tilstande |
| SOX9SRY-box transcription factor 9 | Ofte (30–79 %) | I 2 tilstande |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Ofte (30–79 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ofte (30–79 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 1 tilstand |
| TFAMtranscription factor A, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ofte (30–79 %) | I 2 tilstande |
| TNNC2troponin C2, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 3 tilstande |
| TRIP11thyroid hormone receptor interactor 11 | Ofte (30–79 %) | I 2 tilstande |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Ofte (30–79 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Ofte (30–79 %) | I 2 tilstande |
| TTC7Atetratricopeptide repeat domain 7A | Ofte (30–79 %) | I 2 tilstande |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| VANGL2VANGL planar cell polarity protein 2 | Ofte (30–79 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Ofte (30–79 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ASCL1achaete-scute family bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Nogle gange (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Nogle gange (5–29 %) | I 1 tilstand |
| CD96CD96 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| COASYCoenzyme A synthase | Nogle gange (5–29 %) | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Nogle gange (5–29 %) | I 2 tilstande |
| DPF2double PHD fingers 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EDN3endothelin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EDNRBendothelin receptor type B | Nogle gange (5–29 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Nogle gange (5–29 %) | I 2 tilstande |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| EXT2exostosin glycosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nogle gange (5–29 %) | I 2 tilstande |
| GDNFglial cell derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Nogle gange (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Nogle gange (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Nogle gange (5–29 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Nogle gange (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Nogle gange (5–29 %) | I 2 tilstande |
| MYL2myosin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Nogle gange (5–29 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| NRTNneurturin | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Nogle gange (5–29 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB34RAB34, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RETret proto-oncogene | Nogle gange (5–29 %) | I 2 tilstande |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Csemaphorin 3C | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Dsemaphorin 3D | Nogle gange (5–29 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Nogle gange (5–29 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX17SRY-box transcription factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Nogle gange (5–29 %) | I 1 tilstand |
| SREBF1sterol regulatory element binding transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 3 tilstande |
| TRAPPC12trafficking protein particle complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Nogle gange (5–29 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Nogle gange (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Nogle gange (5–29 %) | I 2 tilstande |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sjældent (1–4%) | I 2 tilstande |
| AQP2aquaporin 2 | Sjældent (1–4%) | I 1 tilstand |
| AVPR2arginine vasopressin receptor 2 | Sjældent (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjældent (1–4%) | I 1 tilstand |
| FOXF1forkhead box F1 | Sjældent (1–4%) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Sjældent (1–4%) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Sjældent (1–4%) | I 1 tilstand |
| MSX1msh homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| MYPNmyopalladin | Sjældent (1–4%) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Sjældent (1–4%) | I 1 tilstand |
| TAF11TATA-box binding protein associated factor 11 | Sjældent (1–4%) | I 1 tilstand |
| TP63tumor protein p63 | Sjældent (1–4%) | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registreret | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registreret | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ikke registreret | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registreret | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ikke registreret | I 1 tilstand |
| CNTN1contactin 1 | Ikke registreret | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Ikke registreret | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ikke registreret | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ikke registreret | I 1 tilstand |
| FLVCR2FLVCR choline and putative heme transporter 2 | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registreret | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registreret | I 1 tilstand |
| KIAA0586KIAA0586 | Ikke registreret | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ikke registreret | I 1 tilstand |
| MAGED2MAGE family member D2 | Ikke registreret | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registreret | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ikke registreret | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ikke registreret | I 1 tilstand |
| PLVAPplasmalemma vesicle associated protein | Ikke registreret | I 1 tilstand |
| RHDRh blood group D antigen | Ikke registreret | I 1 tilstand |
| RPL11ribosomal protein L11 | Ikke registreret | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registreret | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registreret | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Ikke registreret | I 1 tilstand |
| SLC26A3solute carrier family 26 member 3 | Ikke registreret | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ikke registreret | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ikke registreret | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TRAIPTRAF interacting protein | Ikke registreret | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger