Træk
Abnormal cardiovascular system morphology
Any structural anomaly of the heart and blood vessels.
Resumé
- Også kaldet
- Abnormality of cardiovascular system morphology, Cardiovascular malformations
- Kropssystem
- Abnormality of the cardiovascular system
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormal cardiovascular system morphology 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 |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Meget ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Meget ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 3 tilstande |
| CBLCbl proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Meget ofte (80–99 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Meget ofte (80–99 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Meget ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 3 tilstande |
| LZTR1leucine zipper like post translational regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Meget ofte (80–99 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Meget ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 2 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| RASA2RAS p21 protein activator 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RRASRAS related | Meget ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TBX5T-box transcription factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Ofte (30–79 %) | I 1 tilstand |
Vis 317 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| CD96CD96 molecule | Ofte (30–79 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 2 tilstande |
| CHST3carbohydrate sulfotransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 2 tilstande |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ofte (30–79 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Ofte (30–79 %) | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| FANCBFA complementation group B | Ofte (30–79 %) | I 1 tilstand |
| FBLN5fibulin 5 | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FGF20fibroblast growth factor 20 | Ofte (30–79 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Ofte (30–79 %) | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Ofte (30–79 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 2 tilstande |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 1 tilstand |
| GFRA1GDNF family receptor alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| GPC3glypican 3 | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 2 tilstande |
| GREB1LGREB1 like retinoic acid receptor coactivator | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| HOXD13homeobox D13 | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ofte (30–79 %) | I 2 tilstande |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Ofte (30–79 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 2 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstande |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Ofte (30–79 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Ofte (30–79 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 2 tilstande |
| PDPNpodoplanin | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PITX2paired like homeodomain 2 | Ofte (30–79 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Ofte (30–79 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Ofte (30–79 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 3 tilstande |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 1 tilstand |
| RETret proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Ofte (30–79 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ofte (30–79 %) | I 2 tilstande |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Ofte (30–79 %) | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Ofte (30–79 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Ofte (30–79 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Ofte (30–79 %) | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 1 tilstand |
| WNT4Wnt family member 4 | Ofte (30–79 %) | I 1 tilstand |
| WNT7BWnt family member 7B | Ofte (30–79 %) | I 1 tilstand |
| WNT9BWnt family member 9B | Ofte (30–79 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Ofte (30–79 %) | I 2 tilstande |
| ACTG2actin gamma 2, smooth muscle | Nogle gange (5–29 %) | I 2 tilstande |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 2 tilstande |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| ARL13BARF like GTPase 13B | Nogle gange (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 2 tilstande |
| B9D1B9 domain containing 1 | Nogle gange (5–29 %) | I 2 tilstande |
| B9D2B9 domain containing 2 | Nogle gange (5–29 %) | I 2 tilstande |
| BCORBCL6 corepressor | Nogle gange (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nogle gange (5–29 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Nogle gange (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 2 tilstande |
| CCDC141coiled-coil domain containing 141 | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CCNOcyclin O | Nogle gange (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Nogle gange (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP41centrosomal protein 41 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP57centrosomal protein 57 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP221cilia and flagella associated protein 221 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP298cilia and flagella associated protein 298 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP300cilia and flagella associated protein 300 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP74cilia and flagella associated protein 74 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Nogle gange (5–29 %) | I 2 tilstande |
| CHRNGcholinergic receptor nicotinic gamma subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CLXNcalaxin | Nogle gange (5–29 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CTNND2catenin delta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DACT1dishevelled binding antagonist of beta catenin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DAW1dynein assembly factor with WD repeats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DLX5distal-less homeobox 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF1dynein axonemal assembly factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF11dynein axonemal assembly factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF19dynein axonemal assembly factor 19 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF2dynein axonemal assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF3dynein axonemal assembly factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF4dynein axonemal assembly factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF5dynein axonemal assembly factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF6dynein axonemal assembly factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH5dynein axonemal heavy chain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH7dynein axonemal heavy chain 7 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH9dynein axonemal heavy chain 9 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAI1dynein axonemal intermediate chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAI2dynein axonemal intermediate chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAL1dynein axonemal light chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DRC1dynein regulatory complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DRC2dynein regulatory complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DRC4dynein regulatory complex subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FBN2fibrillin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 2 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 4 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Nogle gange (5–29 %) | I 3 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXJ1forkhead box J1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GAS2L2growth arrest specific 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF3growth differentiation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Nogle gange (5–29 %) | I 2 tilstande |
| GJA1gap junction protein alpha 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GJB3gap junction protein beta 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GJB4gap junction protein beta 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GPC6glypican 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 2 tilstande |
| KATNIPkatanin interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDSR3-ketodihydrosphingosine reductase | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD1leiomodin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Nogle gange (5–29 %) | I 1 tilstand |
| MEOX1mesenchyme homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MESP2mesoderm posterior bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 3 tilstande |
| MYH11myosin heavy chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NME5NME/NM23 family member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| NME8NME/NM23 family member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD2outer dynein arm docking complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD4outer dynein arm docking complex subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 2 tilstande |
| OTX2orthodenticle homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAX3paired box 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Nogle gange (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PNPLA6patatin like domain 6, lysophospholipase | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Nogle gange (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PTCH1patched 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Nogle gange (5–29 %) | I 2 tilstande |
| RIPK4receptor interacting serine/threonine kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 2 tilstande |
| RPS6KA3ribosomal protein S6 kinase A3 | Nogle gange (5–29 %) | I 1 tilstand |
| RSPH1radial spoke head component 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RSPH3radial spoke head 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RSPH4Aradial spoke head component 4A | Nogle gange (5–29 %) | I 1 tilstand |
| RSPH9radial spoke head component 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Nogle gange (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Nogle gange (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Nogle gange (5–29 %) | I 2 tilstande |
| SP7Sp7 transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| SPAG1sperm associated antigen 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPEF2sperm flagellar and cilia associated 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Nogle gange (5–29 %) | I 2 tilstande |
| STK36serine/threonine kinase 36 | Nogle gange (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 2 tilstande |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Nogle gange (5–29 %) | I 2 tilstande |
| TCOF1treacle ribosome biogenesis factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 3 tilstande |
| TGIF1TGFB induced factor homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM107transmembrane protein 107 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM218transmembrane protein 218 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 4 tilstande |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 2 tilstande |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSHZ3teashirt zinc finger homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TXNDC15thioredoxin domain containing 15 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Nogle gange (5–29 %) | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYND10zinc finger MYND-type containing 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF423zinc finger protein 423 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Sjældent (1–4%) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Sjældent (1–4%) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Sjældent (1–4%) | I 1 tilstand |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Sjældent (1–4%) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Sjældent (1–4%) | I 1 tilstand |
| VAMP7vesicle associated membrane protein 7 | Sjældent (1–4%) | I 1 tilstand |
| WT1WT1 transcription factor | Sjældent (1–4%) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Sjældent (1–4%) | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Ikke registreret | I 1 tilstand |
| FANCAFA complementation group A | Ikke registreret | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registreret | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ikke registreret | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registreret | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | 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.
Snævrere træk
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