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Trait
Abnormal cardiovascular system morphology
Any structural anomaly of the heart and blood vessels.
Summary
- Also called
- Abnormality of cardiovascular system morphology, Cardiovascular malformations
- Body system
- Abnormality of the cardiovascular system
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Get my Genome Test357 genes linked to Abnormal cardiovascular system morphology
Changes in these genes cause rare conditions in which Abnormal cardiovascular system morphology is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Very often (80–99%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Very often (80–99%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 3 conditions |
| CBLCbl proto-oncogene | Very often (80–99%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Very often (80–99%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Very often (80–99%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Very often (80–99%) | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Very often (80–99%) | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Very often (80–99%) | In 1 condition |
| FLNAfilamin A | Very often (80–99%) | In 1 condition |
| GLI1GLI family zinc finger 1 | Very often (80–99%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Very often (80–99%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Very often (80–99%) | In 1 condition |
| HIRAhistone cell cycle regulator | Very often (80–99%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 3 conditions |
| LZTR1leucine zipper like post translational regulator 1 | Very often (80–99%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Very often (80–99%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Very often (80–99%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Very often (80–99%) | In 1 condition |
| MYH7myosin heavy chain 7 | Very often (80–99%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Very often (80–99%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Very often (80–99%) | In 2 conditions |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 2 conditions |
| RASA2RAS p21 protein activator 2 | Very often (80–99%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Very often (80–99%) | In 1 condition |
| RRASRAS related | Very often (80–99%) | In 1 condition |
| RRAS2RAS related 2 | Very often (80–99%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Very often (80–99%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Very often (80–99%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Very often (80–99%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Very often (80–99%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Very often (80–99%) | In 1 condition |
| TBX1T-box transcription factor 1 | Very often (80–99%) | In 1 condition |
| TBX5T-box transcription factor 5 | Very often (80–99%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Very often (80–99%) | In 1 condition |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Often (30–79%) | In 1 condition |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Often (30–79%) | In 1 condition |
Show 317 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ALG3ALG3 alpha-1,3- mannosyltransferase | Often (30–79%) | In 1 condition |
| CASZ1castor zinc finger 1 | Often (30–79%) | In 1 condition |
| CD96CD96 molecule | Often (30–79%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 2 conditions |
| CHST3carbohydrate sulfotransferase 3 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 2 conditions |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 2 conditions |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 1 condition |
| DHODHdihydroorotate dehydrogenase (quinone) | Often (30–79%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Often (30–79%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Often (30–79%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Often (30–79%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Often (30–79%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Often (30–79%) | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Often (30–79%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Often (30–79%) | In 1 condition |
| FANCBFA complementation group B | Often (30–79%) | In 1 condition |
| FBLN5fibulin 5 | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Often (30–79%) | In 1 condition |
| FGF20fibroblast growth factor 20 | Often (30–79%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Often (30–79%) | In 1 condition |
| FOXC1forkhead box C1 | Often (30–79%) | In 1 condition |
| FUZfuzzy planar cell polarity protein | Often (30–79%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Often (30–79%) | In 1 condition |
| GATA4GATA binding protein 4 | Often (30–79%) | In 2 conditions |
| GATA6GATA binding protein 6 | Often (30–79%) | In 1 condition |
| GFRA1GDNF family receptor alpha 1 | Often (30–79%) | In 1 condition |
| GPC3glypican 3 | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 2 conditions |
| GREB1LGREB1 like retinoic acid receptor coactivator | Often (30–79%) | In 1 condition |
| HDAC4histone deacetylase 4 | Often (30–79%) | In 1 condition |
| HOXD13homeobox D13 | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Often (30–79%) | In 2 conditions |
| IFT80intraflagellar transport 80 | Often (30–79%) | In 1 condition |
| ITGA8integrin subunit alpha 8 | Often (30–79%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Often (30–79%) | In 1 condition |
| KIF7kinesin family member 7 | Often (30–79%) | In 2 conditions |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 2 conditions |
| LONP1lon peptidase 1, mitochondrial | Often (30–79%) | In 1 condition |
| LTBP1latent transforming growth factor beta binding protein 1 | Often (30–79%) | In 1 condition |
| LTBP2latent transforming growth factor beta binding protein 2 | Often (30–79%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Often (30–79%) | In 1 condition |
| MEGF8multiple EGF like domains 8 | Often (30–79%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Often (30–79%) | In 1 condition |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Often (30–79%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 2 conditions |
| PDPNpodoplanin | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| PITX2paired like homeodomain 2 | Often (30–79%) | In 1 condition |
| PRDM16PR/SET domain 16 | Often (30–79%) | In 1 condition |
| PRKCZprotein kinase C zeta | Often (30–79%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Often (30–79%) | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 3 conditions |
| RB1RB transcriptional corepressor 1 | Often (30–79%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Often (30–79%) | In 1 condition |
| RETret proto-oncogene | Often (30–79%) | In 1 condition |
| SEMA3Esemaphorin 3E | Often (30–79%) | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Often (30–79%) | In 2 conditions |
| SKISKI proto-oncogene | Often (30–79%) | In 1 condition |
| SPENspen family transcriptional repressor | Often (30–79%) | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Often (30–79%) | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Often (30–79%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Often (30–79%) | In 1 condition |
| VANGL1VANGL planar cell polarity protein 1 | Often (30–79%) | In 1 condition |
| WDR35WD repeat domain 35 | Often (30–79%) | In 1 condition |
| WNT4Wnt family member 4 | Often (30–79%) | In 1 condition |
| WNT7BWnt family member 7B | Often (30–79%) | In 1 condition |
| WNT9BWnt family member 9B | Often (30–79%) | In 1 condition |
| ZFPM2zinc finger protein, FOG family member 2 | Often (30–79%) | In 2 conditions |
| ACTG2actin gamma 2, smooth muscle | Sometimes (5–29%) | In 2 conditions |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 2 conditions |
| AHI1Abelson helper integration site 1 | Sometimes (5–29%) | In 2 conditions |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| ANOS1anosmin 1 | Sometimes (5–29%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Sometimes (5–29%) | In 1 condition |
| ARL13BARF like GTPase 13B | Sometimes (5–29%) | In 1 condition |
| ARL3ARF like GTPase 3 | Sometimes (5–29%) | In 1 condition |
| ARMC9armadillo repeat containing 9 | Sometimes (5–29%) | In 1 condition |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Sometimes (5–29%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sometimes (5–29%) | In 2 conditions |
| B9D1B9 domain containing 1 | Sometimes (5–29%) | In 2 conditions |
| B9D2B9 domain containing 2 | Sometimes (5–29%) | In 2 conditions |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| BRD4bromodomain containing 4 | Sometimes (5–29%) | In 1 condition |
| BRWD1bromodomain and WD repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| CBY1chibby 1, beta catenin antagonist | Sometimes (5–29%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sometimes (5–29%) | In 2 conditions |
| CCDC141coiled-coil domain containing 141 | Sometimes (5–29%) | In 1 condition |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Sometimes (5–29%) | In 1 condition |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Sometimes (5–29%) | In 1 condition |
| CCNOcyclin O | Sometimes (5–29%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 1 condition |
| CEP104centrosomal protein 104 | Sometimes (5–29%) | In 1 condition |
| CEP120centrosomal protein 120 | Sometimes (5–29%) | In 2 conditions |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 2 conditions |
| CEP41centrosomal protein 41 | Sometimes (5–29%) | In 2 conditions |
| CEP57centrosomal protein 57 | Sometimes (5–29%) | In 1 condition |
| CFAP221cilia and flagella associated protein 221 | Sometimes (5–29%) | In 1 condition |
| CFAP298cilia and flagella associated protein 298 | Sometimes (5–29%) | In 1 condition |
| CFAP300cilia and flagella associated protein 300 | Sometimes (5–29%) | In 1 condition |
| CFAP74cilia and flagella associated protein 74 | Sometimes (5–29%) | In 1 condition |
| CHD6chromodomain helicase DNA binding protein 6 | Sometimes (5–29%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Sometimes (5–29%) | In 2 conditions |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sometimes (5–29%) | In 1 condition |
| CLXNcalaxin | Sometimes (5–29%) | In 1 condition |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Sometimes (5–29%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 2 conditions |
| CTNND2catenin delta 2 | Sometimes (5–29%) | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Sometimes (5–29%) | In 1 condition |
| DAW1dynein assembly factor with WD repeats 1 | Sometimes (5–29%) | In 1 condition |
| DCCDCC netrin 1 receptor | Sometimes (5–29%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Sometimes (5–29%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DLL3delta like canonical Notch ligand 3 | Sometimes (5–29%) | In 1 condition |
| DLX5distal-less homeobox 5 | Sometimes (5–29%) | In 1 condition |
| DNAAF1dynein axonemal assembly factor 1 | Sometimes (5–29%) | In 1 condition |
| DNAAF11dynein axonemal assembly factor 11 | Sometimes (5–29%) | In 1 condition |
| DNAAF19dynein axonemal assembly factor 19 | Sometimes (5–29%) | In 1 condition |
| DNAAF2dynein axonemal assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| DNAAF3dynein axonemal assembly factor 3 | Sometimes (5–29%) | In 1 condition |
| DNAAF4dynein axonemal assembly factor 4 | Sometimes (5–29%) | In 1 condition |
| DNAAF5dynein axonemal assembly factor 5 | Sometimes (5–29%) | In 1 condition |
| DNAAF6dynein axonemal assembly factor 6 | Sometimes (5–29%) | In 1 condition |
| DNAH1dynein axonemal heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| DNAH11dynein axonemal heavy chain 11 | Sometimes (5–29%) | In 1 condition |
| DNAH5dynein axonemal heavy chain 5 | Sometimes (5–29%) | In 1 condition |
| DNAH7dynein axonemal heavy chain 7 | Sometimes (5–29%) | In 1 condition |
| DNAH9dynein axonemal heavy chain 9 | Sometimes (5–29%) | In 1 condition |
| DNAI1dynein axonemal intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| DNAI2dynein axonemal intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Sometimes (5–29%) | In 1 condition |
| DNAL1dynein axonemal light chain 1 | Sometimes (5–29%) | In 1 condition |
| DRC1dynein regulatory complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| DRC2dynein regulatory complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| DRC4dynein regulatory complex subunit 4 | Sometimes (5–29%) | In 1 condition |
| DUSP6dual specificity phosphatase 6 | Sometimes (5–29%) | In 1 condition |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Sometimes (5–29%) | In 1 condition |
| EMX2empty spiracles homeobox 2 | Sometimes (5–29%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Sometimes (5–29%) | In 1 condition |
| FANCIFA complementation group I | Sometimes (5–29%) | In 1 condition |
| FBN2fibrillin 2 | Sometimes (5–29%) | In 1 condition |
| FEZF1FEZ family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sometimes (5–29%) | In 1 condition |
| FGF17fibroblast growth factor 17 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 2 conditions |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 4 conditions |
| FGFR2fibroblast growth factor receptor 2 | Sometimes (5–29%) | In 3 conditions |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 1 condition |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Sometimes (5–29%) | In 1 condition |
| FOXC2forkhead box C2 | Sometimes (5–29%) | In 1 condition |
| FOXH1forkhead box H1 | Sometimes (5–29%) | In 1 condition |
| FOXJ1forkhead box J1 | Sometimes (5–29%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| FREM2FRAS1 related extracellular matrix 2 | Sometimes (5–29%) | In 1 condition |
| GAS1growth arrest specific 1 | Sometimes (5–29%) | In 1 condition |
| GAS2L2growth arrest specific 2 like 2 | Sometimes (5–29%) | In 1 condition |
| GDF3growth differentiation factor 3 | Sometimes (5–29%) | In 1 condition |
| GDF6growth differentiation factor 6 | Sometimes (5–29%) | In 2 conditions |
| GJA1gap junction protein alpha 1 | Sometimes (5–29%) | In 2 conditions |
| GJB3gap junction protein beta 3 | Sometimes (5–29%) | In 1 condition |
| GJB4gap junction protein beta 4 | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| GPC6glypican 6 | Sometimes (5–29%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Sometimes (5–29%) | In 1 condition |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 1 condition |
| HES7hes family bHLH transcription factor 7 | Sometimes (5–29%) | In 1 condition |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| HYDINHYDIN axonemal central pair apparatus protein | Sometimes (5–29%) | In 1 condition |
| IFT74intraflagellar transport 74 | Sometimes (5–29%) | In 1 condition |
| IGF2insulin like growth factor 2 | Sometimes (5–29%) | In 1 condition |
| IL17RDinterleukin 17 receptor D | Sometimes (5–29%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Sometimes (5–29%) | In 2 conditions |
| KATNIPkatanin interacting protein | Sometimes (5–29%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sometimes (5–29%) | In 1 condition |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Sometimes (5–29%) | In 1 condition |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Sometimes (5–29%) | In 1 condition |
| KDSR3-ketodihydrosphingosine reductase | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KIAA0753KIAA0753 | Sometimes (5–29%) | In 1 condition |
| KLF13KLF transcription factor 13 | Sometimes (5–29%) | In 1 condition |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Sometimes (5–29%) | In 1 condition |
| LMOD1leiomodin 1 | Sometimes (5–29%) | In 1 condition |
| LRRC56leucine rich repeat containing 56 | Sometimes (5–29%) | In 1 condition |
| MAFMAF bZIP transcription factor | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Sometimes (5–29%) | In 1 condition |
| MEOX1mesenchyme homeobox 1 | Sometimes (5–29%) | In 1 condition |
| MESP2mesoderm posterior bHLH transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 3 conditions |
| MYH11myosin heavy chain 11 | Sometimes (5–29%) | In 1 condition |
| MYH3myosin heavy chain 3 | Sometimes (5–29%) | In 1 condition |
| MYLKmyosin light chain kinase | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NDNFneuron derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| NEK1NIMA related kinase 1 | Sometimes (5–29%) | In 1 condition |
| NEK10NIMA related kinase 10 | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NME5NME/NM23 family member 5 | Sometimes (5–29%) | In 1 condition |
| NME8NME/NM23 family member 8 | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 1 condition |
| NOTCH2notch receptor 2 | Sometimes (5–29%) | In 1 condition |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Sometimes (5–29%) | In 1 condition |
| ODAD1outer dynein arm docking complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| ODAD2outer dynein arm docking complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| ODAD3outer dynein arm docking complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| ODAD4outer dynein arm docking complex subunit 4 | Sometimes (5–29%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Sometimes (5–29%) | In 2 conditions |
| OTX2orthodenticle homeobox 2 | Sometimes (5–29%) | In 1 condition |
| PAX3paired box 3 | Sometimes (5–29%) | In 1 condition |
| PDE6Dphosphodiesterase 6D | Sometimes (5–29%) | In 1 condition |
| PIBF1progesterone immunomodulatory binding factor 1 | Sometimes (5–29%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 2 conditions |
| PNPLA6patatin like domain 6, lysophospholipase | Sometimes (5–29%) | In 1 condition |
| POLR1BRNA polymerase I subunit B | Sometimes (5–29%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Sometimes (5–29%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Sometimes (5–29%) | In 1 condition |
| PROK2prokineticin 2 | Sometimes (5–29%) | In 1 condition |
| PROKR2prokineticin receptor 2 | Sometimes (5–29%) | In 2 conditions |
| PTCH1patched 1 | Sometimes (5–29%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 2 conditions |
| RIPK4receptor interacting serine/threonine kinase 4 | Sometimes (5–29%) | In 1 condition |
| RIPPLY2ripply transcriptional repressor 2 | Sometimes (5–29%) | In 1 condition |
| RNF135ring finger protein 135 | Sometimes (5–29%) | In 1 condition |
| RPGRretinitis pigmentosa GTPase regulator | Sometimes (5–29%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Sometimes (5–29%) | In 2 conditions |
| RPS6KA3ribosomal protein S6 kinase A3 | Sometimes (5–29%) | In 1 condition |
| RSPH1radial spoke head component 1 | Sometimes (5–29%) | In 1 condition |
| RSPH3radial spoke head 3 | Sometimes (5–29%) | In 1 condition |
| RSPH4Aradial spoke head component 4A | Sometimes (5–29%) | In 1 condition |
| RSPH9radial spoke head component 9 | Sometimes (5–29%) | In 1 condition |
| SALL1spalt like transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SEMA3Asemaphorin 3A | Sometimes (5–29%) | In 1 condition |
| SEMA5Asemaphorin 5A | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 1 condition |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Sometimes (5–29%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Sometimes (5–29%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SOX3SRY-box transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Sometimes (5–29%) | In 2 conditions |
| SP7Sp7 transcription factor | Sometimes (5–29%) | In 1 condition |
| SPAG1sperm associated antigen 1 | Sometimes (5–29%) | In 1 condition |
| SPEF2sperm flagellar and cilia associated 2 | Sometimes (5–29%) | In 1 condition |
| SPRY4sprouty RTK signaling antagonist 4 | Sometimes (5–29%) | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Sometimes (5–29%) | In 1 condition |
| SRYsex determining region Y | Sometimes (5–29%) | In 2 conditions |
| STK36serine/threonine kinase 36 | Sometimes (5–29%) | In 1 condition |
| STRADASTE20 related adaptor alpha | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 2 conditions |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Sometimes (5–29%) | In 1 condition |
| TACR3tachykinin receptor 3 | Sometimes (5–29%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Sometimes (5–29%) | In 1 condition |
| TBX6T-box transcription factor 6 | Sometimes (5–29%) | In 2 conditions |
| TCOF1treacle ribosome biogenesis factor 1 | Sometimes (5–29%) | In 1 condition |
| TCTN1tectonic family member 1 | Sometimes (5–29%) | In 2 conditions |
| TCTN2tectonic family member 2 | Sometimes (5–29%) | In 2 conditions |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 3 conditions |
| TGIF1TGFB induced factor homeobox 1 | Sometimes (5–29%) | In 1 condition |
| TMEM107transmembrane protein 107 | Sometimes (5–29%) | In 1 condition |
| TMEM138transmembrane protein 138 | Sometimes (5–29%) | In 1 condition |
| TMEM216transmembrane protein 216 | Sometimes (5–29%) | In 2 conditions |
| TMEM218transmembrane protein 218 | Sometimes (5–29%) | In 1 condition |
| TMEM231transmembrane protein 231 | Sometimes (5–29%) | In 2 conditions |
| TMEM237transmembrane protein 237 | Sometimes (5–29%) | In 4 conditions |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 2 conditions |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Sometimes (5–29%) | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Sometimes (5–29%) | In 1 condition |
| TSHZ3teashirt zinc finger homeobox 3 | Sometimes (5–29%) | In 1 condition |
| TTC12tetratricopeptide repeat domain 12 | Sometimes (5–29%) | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Sometimes (5–29%) | In 2 conditions |
| TXNDC15thioredoxin domain containing 15 | Sometimes (5–29%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Sometimes (5–29%) | In 1 condition |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Sometimes (5–29%) | In 1 condition |
| WDR11WD repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| ZMYND10zinc finger MYND-type containing 10 | Sometimes (5–29%) | In 1 condition |
| ZNF423zinc finger protein 423 | Sometimes (5–29%) | In 1 condition |
| ACTG1actin gamma 1 | Rarely (1–4%) | In 1 condition |
| DHX37DEAH-box helicase 37 | Rarely (1–4%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Rarely (1–4%) | In 1 condition |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Rarely (1–4%) | In 1 condition |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Rarely (1–4%) | In 1 condition |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Rarely (1–4%) | In 1 condition |
| VAMP7vesicle associated membrane protein 7 | Rarely (1–4%) | In 1 condition |
| WT1WT1 transcription factor | Rarely (1–4%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Rarely (1–4%) | In 1 condition |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Not recorded | In 1 condition |
| FANCAFA complementation group A | Not recorded | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Not recorded | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Not recorded | In 1 condition |
| RECQL4RecQ like helicase 4 | Not recorded | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Not recorded | In 1 condition |
| SMOsmoothened, frizzled class receptor | Not recorded | In 1 condition |
| ZIC3Zic family zinc finger 3 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
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