Požymis
Abnormal cardiovascular system morphology
Any structural anomaly of the heart and blood vessels.
Santrauka
- Taip pat vadinama
- Abnormality of cardiovascular system morphology, Cardiovascular malformations
- Kūno sistema
- Abnormality of the cardiovascular system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormal cardiovascular system morphology. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Labai dažnai (80–99%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Labai dažnai (80–99%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 3 ligose |
| CBLCbl proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Labai dažnai (80–99%) | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Labai dažnai (80–99%) | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| FLNAfilamin A | Labai dažnai (80–99%) | 1 ligoje |
| GLI1GLI family zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Labai dažnai (80–99%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Labai dažnai (80–99%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 3 ligose |
| LZTR1leucine zipper like post translational regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Labai dažnai (80–99%) | 1 ligoje |
| MYH7myosin heavy chain 7 | Labai dažnai (80–99%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Labai dažnai (80–99%) | 2 ligose |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 2 ligose |
| RASA2RAS p21 protein activator 2 | Labai dažnai (80–99%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Labai dažnai (80–99%) | 1 ligoje |
| RRASRAS related | Labai dažnai (80–99%) | 1 ligoje |
| RRAS2RAS related 2 | Labai dažnai (80–99%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Labai dažnai (80–99%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TBX5T-box transcription factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Dažnai (30–79%) | 1 ligoje |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 317 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALG3ALG3 alpha-1,3- mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Dažnai (30–79%) | 1 ligoje |
| CD96CD96 molecule | Dažnai (30–79%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Dažnai (30–79%) | 2 ligose |
| CHST3carbohydrate sulfotransferase 3 | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 2 ligose |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 2 ligose |
| DHCR77-dehydrocholesterol reductase | Dažnai (30–79%) | 1 ligoje |
| DHODHdihydroorotate dehydrogenase (quinone) | Dažnai (30–79%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Dažnai (30–79%) | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Dažnai (30–79%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| FANCBFA complementation group B | Dažnai (30–79%) | 1 ligoje |
| FBLN5fibulin 5 | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| FGF20fibroblast growth factor 20 | Dažnai (30–79%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| FOXC1forkhead box C1 | Dažnai (30–79%) | 1 ligoje |
| FUZfuzzy planar cell polarity protein | Dažnai (30–79%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Dažnai (30–79%) | 1 ligoje |
| GATA4GATA binding protein 4 | Dažnai (30–79%) | 2 ligose |
| GATA6GATA binding protein 6 | Dažnai (30–79%) | 1 ligoje |
| GFRA1GDNF family receptor alpha 1 | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 2 ligose |
| GREB1LGREB1 like retinoic acid receptor coactivator | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HOXD13homeobox D13 | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Dažnai (30–79%) | 2 ligose |
| IFT80intraflagellar transport 80 | Dažnai (30–79%) | 1 ligoje |
| ITGA8integrin subunit alpha 8 | Dažnai (30–79%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 2 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 2 ligose |
| LONP1lon peptidase 1, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| LTBP2latent transforming growth factor beta binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Dažnai (30–79%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Dažnai (30–79%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Dažnai (30–79%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 2 ligose |
| PDPNpodoplanin | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| PITX2paired like homeodomain 2 | Dažnai (30–79%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Dažnai (30–79%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Dažnai (30–79%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Dažnai (30–79%) | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 3 ligose |
| RB1RB transcriptional corepressor 1 | Dažnai (30–79%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Dažnai (30–79%) | 1 ligoje |
| RETret proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Dažnai (30–79%) | 1 ligoje |
| SF3B4splicing factor 3b subunit 4 | Dažnai (30–79%) | 2 ligose |
| SKISKI proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| SPENspen family transcriptional repressor | Dažnai (30–79%) | 1 ligoje |
| STRA6signaling receptor and transporter of retinol STRA6 | Dažnai (30–79%) | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Dažnai (30–79%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Dažnai (30–79%) | 1 ligoje |
| VANGL1VANGL planar cell polarity protein 1 | Dažnai (30–79%) | 1 ligoje |
| WDR35WD repeat domain 35 | Dažnai (30–79%) | 1 ligoje |
| WNT4Wnt family member 4 | Dažnai (30–79%) | 1 ligoje |
| WNT7BWnt family member 7B | Dažnai (30–79%) | 1 ligoje |
| WNT9BWnt family member 9B | Dažnai (30–79%) | 1 ligoje |
| ZFPM2zinc finger protein, FOG family member 2 | Dažnai (30–79%) | 2 ligose |
| ACTG2actin gamma 2, smooth muscle | Kartais (5–29%) | 2 ligose |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 2 ligose |
| AHI1Abelson helper integration site 1 | Kartais (5–29%) | 2 ligose |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| ANOS1anosmin 1 | Kartais (5–29%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Kartais (5–29%) | 1 ligoje |
| ARL13BARF like GTPase 13B | Kartais (5–29%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 2 ligose |
| B9D1B9 domain containing 1 | Kartais (5–29%) | 2 ligose |
| B9D2B9 domain containing 2 | Kartais (5–29%) | 2 ligose |
| BCORBCL6 corepressor | Kartais (5–29%) | 1 ligoje |
| BRD4bromodomain containing 4 | Kartais (5–29%) | 1 ligoje |
| BRWD1bromodomain and WD repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kartais (5–29%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Kartais (5–29%) | 1 ligoje |
| CBY1chibby 1, beta catenin antagonist | Kartais (5–29%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Kartais (5–29%) | 2 ligose |
| CCDC141coiled-coil domain containing 141 | Kartais (5–29%) | 1 ligoje |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Kartais (5–29%) | 1 ligoje |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Kartais (5–29%) | 1 ligoje |
| CCNOcyclin O | Kartais (5–29%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 1 ligoje |
| CEP104centrosomal protein 104 | Kartais (5–29%) | 1 ligoje |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 2 ligose |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 2 ligose |
| CEP41centrosomal protein 41 | Kartais (5–29%) | 2 ligose |
| CEP57centrosomal protein 57 | Kartais (5–29%) | 1 ligoje |
| CFAP221cilia and flagella associated protein 221 | Kartais (5–29%) | 1 ligoje |
| CFAP298cilia and flagella associated protein 298 | Kartais (5–29%) | 1 ligoje |
| CFAP300cilia and flagella associated protein 300 | Kartais (5–29%) | 1 ligoje |
| CFAP74cilia and flagella associated protein 74 | Kartais (5–29%) | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Kartais (5–29%) | 1 ligoje |
| CHN1chimerin 1 | Kartais (5–29%) | 1 ligoje |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Kartais (5–29%) | 2 ligose |
| CHRNGcholinergic receptor nicotinic gamma subunit | Kartais (5–29%) | 1 ligoje |
| CLXNcalaxin | Kartais (5–29%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 2 ligose |
| CTNND2catenin delta 2 | Kartais (5–29%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Kartais (5–29%) | 1 ligoje |
| DAW1dynein assembly factor with WD repeats 1 | Kartais (5–29%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Kartais (5–29%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DLL3delta like canonical Notch ligand 3 | Kartais (5–29%) | 1 ligoje |
| DLX5distal-less homeobox 5 | Kartais (5–29%) | 1 ligoje |
| DNAAF1dynein axonemal assembly factor 1 | Kartais (5–29%) | 1 ligoje |
| DNAAF11dynein axonemal assembly factor 11 | Kartais (5–29%) | 1 ligoje |
| DNAAF19dynein axonemal assembly factor 19 | Kartais (5–29%) | 1 ligoje |
| DNAAF2dynein axonemal assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| DNAAF3dynein axonemal assembly factor 3 | Kartais (5–29%) | 1 ligoje |
| DNAAF4dynein axonemal assembly factor 4 | Kartais (5–29%) | 1 ligoje |
| DNAAF5dynein axonemal assembly factor 5 | Kartais (5–29%) | 1 ligoje |
| DNAAF6dynein axonemal assembly factor 6 | Kartais (5–29%) | 1 ligoje |
| DNAH1dynein axonemal heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| DNAH11dynein axonemal heavy chain 11 | Kartais (5–29%) | 1 ligoje |
| DNAH5dynein axonemal heavy chain 5 | Kartais (5–29%) | 1 ligoje |
| DNAH7dynein axonemal heavy chain 7 | Kartais (5–29%) | 1 ligoje |
| DNAH9dynein axonemal heavy chain 9 | Kartais (5–29%) | 1 ligoje |
| DNAI1dynein axonemal intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| DNAI2dynein axonemal intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Kartais (5–29%) | 1 ligoje |
| DNAL1dynein axonemal light chain 1 | Kartais (5–29%) | 1 ligoje |
| DRC1dynein regulatory complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| DRC2dynein regulatory complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| DRC4dynein regulatory complex subunit 4 | Kartais (5–29%) | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Kartais (5–29%) | 1 ligoje |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Kartais (5–29%) | 1 ligoje |
| EMX2empty spiracles homeobox 2 | Kartais (5–29%) | 1 ligoje |
| EXT1exostosin glycosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FBN2fibrillin 2 | Kartais (5–29%) | 1 ligoje |
| FEZF1FEZ family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Kartais (5–29%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 2 ligose |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 4 ligose |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 3 ligose |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 1 ligoje |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Kartais (5–29%) | 1 ligoje |
| FOXC2forkhead box C2 | Kartais (5–29%) | 1 ligoje |
| FOXH1forkhead box H1 | Kartais (5–29%) | 1 ligoje |
| FOXJ1forkhead box J1 | Kartais (5–29%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Kartais (5–29%) | 1 ligoje |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 1 ligoje |
| GAS2L2growth arrest specific 2 like 2 | Kartais (5–29%) | 1 ligoje |
| GDF3growth differentiation factor 3 | Kartais (5–29%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Kartais (5–29%) | 2 ligose |
| GJA1gap junction protein alpha 1 | Kartais (5–29%) | 2 ligose |
| GJB3gap junction protein beta 3 | Kartais (5–29%) | 1 ligoje |
| GJB4gap junction protein beta 4 | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| GPC6glypican 6 | Kartais (5–29%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Kartais (5–29%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Kartais (5–29%) | 1 ligoje |
| HES7hes family bHLH transcription factor 7 | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 2 ligose |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| HYDINHYDIN axonemal central pair apparatus protein | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Kartais (5–29%) | 1 ligoje |
| IL17RDinterleukin 17 receptor D | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 2 ligose |
| KATNIPkatanin interacting protein | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Kartais (5–29%) | 1 ligoje |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Kartais (5–29%) | 1 ligoje |
| KDSR3-ketodihydrosphingosine reductase | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| KLF13KLF transcription factor 13 | Kartais (5–29%) | 1 ligoje |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 1 ligoje |
| LMOD1leiomodin 1 | Kartais (5–29%) | 1 ligoje |
| LRRC56leucine rich repeat containing 56 | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Kartais (5–29%) | 1 ligoje |
| MEOX1mesenchyme homeobox 1 | Kartais (5–29%) | 1 ligoje |
| MESP2mesoderm posterior bHLH transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 3 ligose |
| MYH11myosin heavy chain 11 | Kartais (5–29%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 1 ligoje |
| MYLKmyosin light chain kinase | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NDNFneuron derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| NEK10NIMA related kinase 10 | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| NME5NME/NM23 family member 5 | Kartais (5–29%) | 1 ligoje |
| NME8NME/NM23 family member 8 | Kartais (5–29%) | 1 ligoje |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 1 ligoje |
| NOTCH2notch receptor 2 | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Kartais (5–29%) | 1 ligoje |
| ODAD1outer dynein arm docking complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ODAD2outer dynein arm docking complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| ODAD3outer dynein arm docking complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ODAD4outer dynein arm docking complex subunit 4 | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 2 ligose |
| OTX2orthodenticle homeobox 2 | Kartais (5–29%) | 1 ligoje |
| PAX3paired box 3 | Kartais (5–29%) | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Kartais (5–29%) | 1 ligoje |
| PIBF1progesterone immunomodulatory binding factor 1 | Kartais (5–29%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 2 ligose |
| PNPLA6patatin like domain 6, lysophospholipase | Kartais (5–29%) | 1 ligoje |
| POLR1BRNA polymerase I subunit B | Kartais (5–29%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Kartais (5–29%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Kartais (5–29%) | 1 ligoje |
| PROK2prokineticin 2 | Kartais (5–29%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Kartais (5–29%) | 2 ligose |
| PTCH1patched 1 | Kartais (5–29%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Kartais (5–29%) | 2 ligose |
| RIPK4receptor interacting serine/threonine kinase 4 | Kartais (5–29%) | 1 ligoje |
| RIPPLY2ripply transcriptional repressor 2 | Kartais (5–29%) | 1 ligoje |
| RNF135ring finger protein 135 | Kartais (5–29%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Kartais (5–29%) | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Kartais (5–29%) | 2 ligose |
| RPS6KA3ribosomal protein S6 kinase A3 | Kartais (5–29%) | 1 ligoje |
| RSPH1radial spoke head component 1 | Kartais (5–29%) | 1 ligoje |
| RSPH3radial spoke head 3 | Kartais (5–29%) | 1 ligoje |
| RSPH4Aradial spoke head component 4A | Kartais (5–29%) | 1 ligoje |
| RSPH9radial spoke head component 9 | Kartais (5–29%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SEMA3Asemaphorin 3A | Kartais (5–29%) | 1 ligoje |
| SEMA5Asemaphorin 5A | Kartais (5–29%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Kartais (5–29%) | 1 ligoje |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Kartais (5–29%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Kartais (5–29%) | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Kartais (5–29%) | 1 ligoje |
| SOX2SRY-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| SOX3SRY-box transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 2 ligose |
| SP7Sp7 transcription factor | Kartais (5–29%) | 1 ligoje |
| SPAG1sperm associated antigen 1 | Kartais (5–29%) | 1 ligoje |
| SPEF2sperm flagellar and cilia associated 2 | Kartais (5–29%) | 1 ligoje |
| SPRY4sprouty RTK signaling antagonist 4 | Kartais (5–29%) | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Kartais (5–29%) | 1 ligoje |
| SRYsex determining region Y | Kartais (5–29%) | 2 ligose |
| STK36serine/threonine kinase 36 | Kartais (5–29%) | 1 ligoje |
| STRADASTE20 related adaptor alpha | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 2 ligose |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Kartais (5–29%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TBX6T-box transcription factor 6 | Kartais (5–29%) | 2 ligose |
| TCOF1treacle ribosome biogenesis factor 1 | Kartais (5–29%) | 1 ligoje |
| TCTN1tectonic family member 1 | Kartais (5–29%) | 2 ligose |
| TCTN2tectonic family member 2 | Kartais (5–29%) | 2 ligose |
| TCTN3tectonic family member 3 | Kartais (5–29%) | 3 ligose |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 1 ligoje |
| TMEM107transmembrane protein 107 | Kartais (5–29%) | 1 ligoje |
| TMEM138transmembrane protein 138 | Kartais (5–29%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Kartais (5–29%) | 2 ligose |
| TMEM218transmembrane protein 218 | Kartais (5–29%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Kartais (5–29%) | 2 ligose |
| TMEM237transmembrane protein 237 | Kartais (5–29%) | 4 ligose |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 2 ligose |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Kartais (5–29%) | 1 ligoje |
| TSHZ3teashirt zinc finger homeobox 3 | Kartais (5–29%) | 1 ligoje |
| TTC12tetratricopeptide repeat domain 12 | Kartais (5–29%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Kartais (5–29%) | 2 ligose |
| TXNDC15thioredoxin domain containing 15 | Kartais (5–29%) | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Kartais (5–29%) | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| ZMYND10zinc finger MYND-type containing 10 | Kartais (5–29%) | 1 ligoje |
| ZNF423zinc finger protein 423 | Kartais (5–29%) | 1 ligoje |
| ACTG1actin gamma 1 | Retai (1–4 %) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Retai (1–4 %) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Retai (1–4 %) | 1 ligoje |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Retai (1–4 %) | 1 ligoje |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Retai (1–4 %) | 1 ligoje |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Retai (1–4 %) | 1 ligoje |
| VAMP7vesicle associated membrane protein 7 | Retai (1–4 %) | 1 ligoje |
| WT1WT1 transcription factor | Retai (1–4 %) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Retai (1–4 %) | 1 ligoje |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Neužfiksuota | 1 ligoje |
| FANCAFA complementation group A | Neužfiksuota | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Neužfiksuota | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Neužfiksuota | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Neužfiksuota | 1 ligoje |
| ZIC3Zic family zinc finger 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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