Egenskap
High levels of amniotic fluid
Klinisk navn: Polyhydramnios
The presence of excess amniotic fluid in the uterus during pregnancy.
Sammendrag
- Også kalt
- Hydramnios
- Kroppssystem
- Abnormality of prenatal development or birth
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
Read the genes linked to High levels of amniotic fluid, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test335 gener knyttet til High levels of amniotic fluid
Endringer i disse genene forårsaker sjeldne tilstander der High levels of amniotic fluid forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACTBactin beta | Alltid | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Alltid | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Alltid | I 1 tilstand |
| ANO1anoctamin 1 | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Alltid | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Alltid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 1 tilstand |
| CALCRLcalcitonin receptor like receptor | Alltid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alltid | I 1 tilstand |
| DNM2dynamin 2 | Alltid | I 2 tilstander |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Alltid | I 1 tilstand |
| EGFRepidermal growth factor receptor | Alltid | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Alltid | I 2 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Alltid | I 5 tilstander |
| FHfumarate hydratase | Alltid | I 2 tilstander |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Alltid | I 1 tilstand |
| GLDNgliomedin | Alltid | I 2 tilstander |
| GPC3glypican 3 | Alltid | I 2 tilstander |
| IBA57iron-sulfur cluster assembly factor IBA57 | Alltid | I 2 tilstander |
| IKZF1IKAROS family zinc finger 1 | Alltid | I 1 tilstand |
| INSRinsulin receptor | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| LMOD1leiomodin 1 | Alltid | I 2 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Alltid | I 2 tilstander |
| NEXNnexilin F-actin binding protein | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alltid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Alltid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alltid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Alltid | I 1 tilstand |
| PRRX1paired related homeobox 1 | Alltid | I 2 tilstander |
| REREarginine-glutamic acid dipeptide repeats | Alltid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 3 tilstander |
Vis 295 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| SCYL2SCY1 like pseudokinase 2 | Alltid | I 1 tilstand |
| SLC12A1solute carrier family 12 member 1 | Alltid | I 1 tilstand |
| SLC27A4solute carrier family 27 member 4 | Alltid | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Alltid | I 1 tilstand |
| SLC9A3solute carrier family 9 member A3 | Alltid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Alltid | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alltid | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Alltid | I 2 tilstander |
| TBC1D32TBC1 domain family member 32 | Alltid | I 1 tilstand |
| THOC2THO complex subunit 2 | Alltid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| ZBTB42zinc finger and BTB domain containing 42 | Alltid | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Alltid | I 2 tilstander |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Svært ofte (80–99 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Svært ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Svært ofte (80–99 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Svært ofte (80–99 %) | I 3 tilstander |
| FANCBFA complementation group B | Svært ofte (80–99 %) | I 1 tilstand |
| FOXE1forkhead box E1 | Svært ofte (80–99 %) | I 2 tilstander |
| HOXD13homeobox D13 | Svært ofte (80–99 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Svært ofte (80–99 %) | I 2 tilstander |
| INPPL1inositol polyphosphate phosphatase like 1 | Svært ofte (80–99 %) | I 2 tilstander |
| KIF7kinesin family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Svært ofte (80–99 %) | I 3 tilstander |
| MUSKmuscle associated receptor tyrosine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| ODC1ornithine decarboxylase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| OTX2orthodenticle homeobox 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Svært ofte (80–99 %) | I 1 tilstand |
| PLECplectin | Svært ofte (80–99 %) | I 3 tilstander |
| PTH1Rparathyroid hormone 1 receptor | Svært ofte (80–99 %) | I 2 tilstander |
| RSPO2R-spondin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SLC35D1solute carrier family 35 member D1 | Svært ofte (80–99 %) | I 2 tilstander |
| TBX4T-box transcription factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Svært 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 tilstander |
| ACTG2actin gamma 2, smooth muscle | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 2 tilstander |
| CLCN7Cl-/H+ antiporter 7 | Ofte (30–79 %) | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ofte (30–79 %) | I 2 tilstander |
| CLCNKBchloride voltage-gated channel Kb | Ofte (30–79 %) | I 2 tilstander |
| CNTNAP1contactin associated protein 1 | Ofte (30–79 %) | I 2 tilstander |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| IFT56intraflagellar transport 56 | Ofte (30–79 %) | I 1 tilstand |
| ITGA6integrin subunit alpha 6 | Ofte (30–79 %) | I 2 tilstander |
| ITGB4integrin subunit beta 4 | Ofte (30–79 %) | I 3 tilstander |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 2 tilstander |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KIF21Akinesin family member 21A | Ofte (30–79 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Ofte (30–79 %) | I 2 tilstander |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 5 tilstander |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstander |
| LBRlamin B receptor | Ofte (30–79 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Ofte (30–79 %) | I 3 tilstander |
| LTBP3latent transforming growth factor beta binding protein 3 | Ofte (30–79 %) | I 2 tilstander |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 2 tilstander |
| MAMLD1mastermind like domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| RRAS2RAS related 2 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| SOX9SRY-box transcription factor 9 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TNNC2troponin C2, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 3 tilstander |
| TRIP11thyroid hormone receptor interactor 11 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TTC7Atetratricopeptide repeat domain 7A | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| ASCL1achaete-scute family bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Noen ganger (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Noen ganger (5–29 %) | I 1 tilstand |
| CD96CD96 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Noen ganger (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| COASYCoenzyme A synthase | Noen ganger (5–29 %) | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Noen ganger (5–29 %) | I 2 tilstander |
| DPF2double PHD fingers 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EDN3endothelin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EDNRBendothelin receptor type B | Noen ganger (5–29 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| EXT2exostosin glycosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Noen ganger (5–29 %) | I 2 tilstander |
| GDNFglial cell derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Noen ganger (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Noen ganger (5–29 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Noen ganger (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Noen ganger (5–29 %) | I 2 tilstander |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Noen ganger (5–29 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| NRTNneurturin | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Noen ganger (5–29 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB34RAB34, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RETret proto-oncogene | Noen ganger (5–29 %) | I 2 tilstander |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Csemaphorin 3C | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Dsemaphorin 3D | Noen ganger (5–29 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Noen ganger (5–29 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX17SRY-box transcription factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Noen ganger (5–29 %) | I 1 tilstand |
| SREBF1sterol regulatory element binding transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Noen ganger (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 3 tilstander |
| TRAPPC12trafficking protein particle complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Noen ganger (5–29 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Noen ganger (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Noen ganger (5–29 %) | I 2 tilstander |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sjelden (1–4%) | I 2 tilstander |
| AQP2aquaporin 2 | Sjelden (1–4%) | I 1 tilstand |
| AVPR2arginine vasopressin receptor 2 | Sjelden (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjelden (1–4%) | I 1 tilstand |
| FOXF1forkhead box F1 | Sjelden (1–4%) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Sjelden (1–4%) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Sjelden (1–4%) | I 1 tilstand |
| MSX1msh homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| MYPNmyopalladin | Sjelden (1–4%) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Sjelden (1–4%) | I 1 tilstand |
| TAF11TATA-box binding protein associated factor 11 | Sjelden (1–4%) | I 1 tilstand |
| TP63tumor protein p63 | Sjelden (1–4%) | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registrert | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ikke registrert | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registrert | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ikke registrert | I 1 tilstand |
| CNTN1contactin 1 | Ikke registrert | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Ikke registrert | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ikke registrert | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ikke registrert | I 1 tilstand |
| FLVCR2FLVCR choline and putative heme transporter 2 | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registrert | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registrert | I 1 tilstand |
| KIAA0586KIAA0586 | Ikke registrert | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ikke registrert | I 1 tilstand |
| MAGED2MAGE family member D2 | Ikke registrert | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registrert | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ikke registrert | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ikke registrert | I 1 tilstand |
| PLVAPplasmalemma vesicle associated protein | Ikke registrert | I 1 tilstand |
| RHDRh blood group D antigen | Ikke registrert | I 1 tilstand |
| RPL11ribosomal protein L11 | Ikke registrert | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registrert | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registrert | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Ikke registrert | I 1 tilstand |
| SLC26A3solute carrier family 26 member 3 | Ikke registrert | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ikke registrert | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ikke registrert | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TRAIPTRAF interacting protein | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker