Piirre
Narrowing of pulmonic valve
Kliininen nimi: Pulmonic stenosis
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Yhteenveto
- Tunnetaan myös nimellä
- Pulmonary stenosis, Pulmonary valve stenosis, Pulmonic valve stenosis
- Elimistön järjestelmä
- Abnormality of the cardiovascular system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Narrowing of pulmonic valve, and the rest of your genome, with one test.
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Tilaa Genome Test148 geeniä, jotka liittyvät piirteeseen Narrowing of pulmonic valve
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Narrowing of pulmonic valve esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ADAMTS19ADAM metallopeptidase with thrombospondin type 1 motif 19 | Aina | 1 sairaudessa |
| AMOTL1angiomotin like 1 | Aina | 1 sairaudessa |
| CCT3chaperonin containing TCP1 subunit 3 | Aina | 1 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Aina | 1 sairaudessa |
| COL3A1collagen type III alpha 1 chain | Aina | 1 sairaudessa |
| DAND5DAN domain BMP antagonist family member 5 | Aina | 1 sairaudessa |
| GPC3glypican 3 | Aina | 1 sairaudessa |
| IGFBP7insulin like growth factor binding protein 7 | Aina | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 2 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Aina | 1 sairaudessa |
| RNU5B-1RNA, U5B small nuclear 1 | Aina | 1 sairaudessa |
| RPL27ribosomal protein L27 | Aina | 1 sairaudessa |
| SMAD2SMAD family member 2 | Aina | 1 sairaudessa |
| TBX5T-box transcription factor 5 | Aina | 1 sairaudessa |
| B4GALT7beta-1,4-galactosyltransferase 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 5 sairaudessa |
| HRASHRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 2 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 3 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| NF1neurofibromin 1 | Hyvin usein (80–99%) | 6 sairaudessa |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Hyvin usein (80–99%) | 3 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Usein (30–79%) | 2 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Usein (30–79%) | 2 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Usein (30–79%) | 1 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Usein (30–79%) | 1 sairaudessa |
| CCDC22CCC complex scaffolding subunit CCDC22 | Usein (30–79%) | 1 sairaudessa |
| CCDC32coiled-coil domain containing 32 | Usein (30–79%) | 1 sairaudessa |
| CHD7chromodomain helicase DNA binding protein 7 | Usein (30–79%) | 1 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Usein (30–79%) | 1 sairaudessa |
| CUL3cullin 3 | Usein (30–79%) | 1 sairaudessa |
| DAW1dynein assembly factor with WD repeats 1 | Usein (30–79%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Usein (30–79%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Usein (30–79%) | 1 sairaudessa |
| DSG1desmoglein 1 | Usein (30–79%) | 1 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Usein (30–79%) | 1 sairaudessa |
| ELNelastin | Usein (30–79%) | 3 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Usein (30–79%) | 1 sairaudessa |
| GTF2Igeneral transcription factor IIi | Usein (30–79%) | 1 sairaudessa |
Näytä 108 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| GTF2IRD1GTF2I repeat domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| HIVEP2HIVEP zinc finger 2 | Usein (30–79%) | 1 sairaudessa |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Usein (30–79%) | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Usein (30–79%) | 1 sairaudessa |
| KIF20Akinesin family member 20A | Usein (30–79%) | 1 sairaudessa |
| LIMK1LIM domain kinase 1 | Usein (30–79%) | 1 sairaudessa |
| LTBP2latent transforming growth factor beta binding protein 2 | Usein (30–79%) | 2 sairaudessa |
| METTL27methyltransferase like 27 | Usein (30–79%) | 1 sairaudessa |
| MLXIPLMLX interacting protein like | Usein (30–79%) | 1 sairaudessa |
| MRASmuscle RAS oncogene homolog | Usein (30–79%) | 1 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | Usein (30–79%) | 1 sairaudessa |
| NEK9NIMA related kinase 9 | Usein (30–79%) | 1 sairaudessa |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Usein (30–79%) | 1 sairaudessa |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Usein (30–79%) | 2 sairaudessa |
| RAD21RAD21 cohesin complex component | Usein (30–79%) | 1 sairaudessa |
| RFC2replication factor C subunit 2 | Usein (30–79%) | 1 sairaudessa |
| RIT1Ras like without CAAX 1 | Usein (30–79%) | 1 sairaudessa |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Usein (30–79%) | 2 sairaudessa |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Usein (30–79%) | 1 sairaudessa |
| SOX17SRY-box transcription factor 17 | Usein (30–79%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| STRA6signaling receptor and transporter of retinol STRA6 | Usein (30–79%) | 1 sairaudessa |
| STX1Asyntaxin 1A | Usein (30–79%) | 1 sairaudessa |
| TBL2transducin beta like 2 | Usein (30–79%) | 1 sairaudessa |
| TMEM270transmembrane protein 270 | Usein (30–79%) | 1 sairaudessa |
| VPS35LVPS35 endosomal protein sorting factor like | Usein (30–79%) | 1 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Usein (30–79%) | 1 sairaudessa |
| WASHC5WASH complex subunit 5 | Usein (30–79%) | 2 sairaudessa |
| WNT4Wnt family member 4 | Usein (30–79%) | 1 sairaudessa |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Usein (30–79%) | 1 sairaudessa |
| ZIC3Zic family zinc finger 3 | Usein (30–79%) | 1 sairaudessa |
| ACAD8acyl-CoA dehydrogenase family member 8 | Joskus (5–29%) | 1 sairaudessa |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Joskus (5–29%) | 1 sairaudessa |
| ADKadenosine kinase | Joskus (5–29%) | 1 sairaudessa |
| AGO2argonaute RISC catalytic component 2 | Joskus (5–29%) | 1 sairaudessa |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Joskus (5–29%) | 1 sairaudessa |
| ARPC4actin related protein 2/3 complex subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Joskus (5–29%) | 1 sairaudessa |
| CACHD1cache domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| CICcapicua transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| CIROPciliated left-right organizer metallopeptidase | Joskus (5–29%) | 1 sairaudessa |
| DCHS1dachsous cadherin-related 1 | Joskus (5–29%) | 1 sairaudessa |
| DDX3XDEAD-box helicase 3 X-linked | Joskus (5–29%) | 1 sairaudessa |
| FAT4FAT atypical cadherin 4 | Joskus (5–29%) | 1 sairaudessa |
| FBN1fibrillin 1 | Joskus (5–29%) | 2 sairaudessa |
| FBXW11F-box and WD repeat domain containing 11 | Joskus (5–29%) | 1 sairaudessa |
| FRYLFRY like transcription coactivator | Joskus (5–29%) | 1 sairaudessa |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| GATA4GATA binding protein 4 | Joskus (5–29%) | 2 sairaudessa |
| GATA6GATA binding protein 6 | Joskus (5–29%) | 2 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Joskus (5–29%) | 1 sairaudessa |
| KDM6Alysine demethylase 6A | Joskus (5–29%) | 1 sairaudessa |
| KLHL20kelch like family member 20 | Joskus (5–29%) | 1 sairaudessa |
| LRP4LDL receptor related protein 4 | Joskus (5–29%) | 1 sairaudessa |
| LZTR1leucine zipper like post translational regulator 1 | Joskus (5–29%) | 2 sairaudessa |
| NEK8NIMA related kinase 8 | Joskus (5–29%) | 2 sairaudessa |
| NIPBLNIPBL cohesin loading factor | Joskus (5–29%) | 1 sairaudessa |
| NOTCH1notch receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| NPHP3nephrocystin 3 | Joskus (5–29%) | 1 sairaudessa |
| OTUD5OTU deubiquitinase 5 | Joskus (5–29%) | 1 sairaudessa |
| PLD1phospholipase D1 | Joskus (5–29%) | 1 sairaudessa |
| PLXND1plexin D1 | Joskus (5–29%) | 2 sairaudessa |
| POLR3ARNA polymerase III subunit A | Joskus (5–29%) | 1 sairaudessa |
| RAP1BRAP1B, member of RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RNF135ring finger protein 135 | Joskus (5–29%) | 1 sairaudessa |
| SARDHsarcosine dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| SGO1shugoshin 1 | Joskus (5–29%) | 1 sairaudessa |
| SKIC3SKI3 subunit of superkiller complex | Joskus (5–29%) | 1 sairaudessa |
| SLC29A3solute carrier family 29 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC6A1solute carrier family 6 member 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC6A11solute carrier family 6 member 11 | Joskus (5–29%) | 1 sairaudessa |
| SMAD3SMAD family member 3 | Joskus (5–29%) | 2 sairaudessa |
| SMAD4SMAD family member 4 | Joskus (5–29%) | 1 sairaudessa |
| SMAD6SMAD family member 6 | Joskus (5–29%) | 1 sairaudessa |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Joskus (5–29%) | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Joskus (5–29%) | 1 sairaudessa |
| SMC5structural maintenance of chromosomes 5 | Joskus (5–29%) | 1 sairaudessa |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Joskus (5–29%) | 1 sairaudessa |
| TBX2T-box transcription factor 2 | Joskus (5–29%) | 1 sairaudessa |
| TRA2Btransformer 2 beta homolog | Joskus (5–29%) | 1 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | Joskus (5–29%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Joskus (5–29%) | 3 sairaudessa |
| ZNF341zinc finger protein 341 | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
| BPTFbromodomain PHD finger transcription factor | Harvinainen (1–4 %) | 1 sairaudessa |
| CHD3chromodomain helicase DNA binding protein 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Harvinainen (1–4 %) | 2 sairaudessa |
| EP300EP300 lysine acetyltransferase | Harvinainen (1–4 %) | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Harvinainen (1–4 %) | 1 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPRED1sprouty related EVH1 domain containing 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TBCKTBC1 domain containing kinase | Harvinainen (1–4 %) | 1 sairaudessa |
| ARHGAP31Rho GTPase activating protein 31 | Ei kirjattu | 1 sairaudessa |
| BCORBCL6 corepressor | Ei kirjattu | 1 sairaudessa |
| BMP2bone morphogenetic protein 2 | Ei kirjattu | 1 sairaudessa |
| CDC42cell division cycle 42 | Ei kirjattu | 1 sairaudessa |
| CHST3carbohydrate sulfotransferase 3 | Ei kirjattu | 1 sairaudessa |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ei kirjattu | 1 sairaudessa |
| FKTNfukutin | Ei kirjattu | 1 sairaudessa |
| FLT4fms related receptor tyrosine kinase 4 | Ei kirjattu | 1 sairaudessa |
| GDF1growth differentiation factor 1 | Ei kirjattu | 2 sairaudessa |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ei kirjattu | 1 sairaudessa |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ei kirjattu | 1 sairaudessa |
| MGPmatrix Gla protein | Ei kirjattu | 1 sairaudessa |
| NOTCH2notch receptor 2 | Ei kirjattu | 1 sairaudessa |
| NRXN1neurexin 1 | Ei kirjattu | 1 sairaudessa |
| RAB23RAB23, member RAS oncogene family | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
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Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa