AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Træk
Abnormality of the heart
Klinisk navn: Abnormal heart morphology
Any structural anomaly of the heart.
Resumé
- Også kaldet
- Abnormally shaped heart, Heart defect, Abnormality of cardiac morphology, Cardiac abnormality, Cardiac anomalies, Cardiac anomaly, Congenital heart defect, Congenital heart defects
- Kropssystem
- Abnormality of the cardiovascular system
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-heart-morphology.json"
page <- fromJSON(url)
page$trait$nameAbnormality of the heartHP:0001627
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Abnormality of the heart, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test270 gener knyttet til Abnormality of the heart
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormality of the heart 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 |
|---|---|---|
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Altid | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Meget ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PAHphenylalanine hydroxylase | Meget ofte (80–99 %) | I 1 tilstand |
| PLXND1plexin D1 | Meget ofte (80–99 %) | I 1 tilstand |
| TKTtransketolase | Meget ofte (80–99 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ofte (30–79 %) | I 2 tilstande |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Ofte (30–79 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 3 tilstande |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| FLNAfilamin A | Ofte (30–79 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 1 tilstand |
| GCKglucokinase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 2 tilstande |
| INSinsulin | Ofte (30–79 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 2 tilstande |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 2 tilstande |
| NPPAnatriuretic peptide A | Ofte (30–79 %) | I 1 tilstand |
| PDX1pancreatic and duodenal homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ofte (30–79 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 3 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 1 tilstand |
Vis 230 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| SCN5Asodium voltage-gated channel alpha subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstande |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 3 tilstande |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Nogle gange (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | 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 4 tilstande |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | 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 |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP74cilia and flagella associated protein 74 | Nogle gange (5–29 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Nogle gange (5–29 %) | I 1 tilstand |
| CLXNcalaxin | Nogle gange (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | 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 4 tilstande |
| DAW1dynein assembly factor with WD repeats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Nogle gange (5–29 %) | I 4 tilstande |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DLL1delta like canonical Notch ligand 1 | Nogle gange (5–29 %) | I 4 tilstande |
| 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 |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | 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 |
| DSEdermatan sulfate epimerase | Nogle gange (5–29 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Nogle gange (5–29 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Nogle gange (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Nogle gange (5–29 %) | I 4 tilstande |
| FOXJ1forkhead box J1 | Nogle gange (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Nogle gange (5–29 %) | I 4 tilstande |
| GAS2L2growth arrest specific 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 4 tilstande |
| GLI3GLI family zinc finger 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Nogle gange (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Nogle gange (5–29 %) | I 1 tilstand |
| HYMAIhydatidiform mole associated and imprinted | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Nogle gange (5–29 %) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Nogle gange (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 2 tilstande |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Nogle gange (5–29 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NIPA1NIPA magnesium transporter 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | 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 4 tilstande |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | 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 3 tilstande |
| PDE6Dphosphodiesterase 6D | Nogle gange (5–29 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Nogle gange (5–29 %) | I 4 tilstande |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Nogle gange (5–29 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL15ribosomal protein L15 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Nogle gange (5–29 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL8ribosomal protein L8 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Nogle gange (5–29 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | 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 |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SBDSSBDS ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Nogle gange (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Nogle gange (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Nogle gange (5–29 %) | I 4 tilstande |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 4 tilstande |
| SKIC2SKI2 subunit of superkiller complex | Nogle gange (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | 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 |
| STAG2STAG2 cohesin complex component | Nogle gange (5–29 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Nogle gange (5–29 %) | I 4 tilstande |
| STK36serine/threonine kinase 36 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Nogle gange (5–29 %) | I 4 tilstande |
| TMEM216transmembrane protein 216 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Nogle gange (5–29 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Nogle gange (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| ZFP57ZFP57 zinc finger protein | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Nogle gange (5–29 %) | I 4 tilstande |
| ZMYND10zinc finger MYND-type containing 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Nogle gange (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Sjældent (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjældent (1–4%) | I 1 tilstand |
| GATA3GATA binding protein 3 | Sjældent (1–4%) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Sjældent (1–4%) | I 1 tilstand |
| PBX1PBX homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Sjældent (1–4%) | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Sjældent (1–4%) | I 1 tilstand |
| FANCAFA complementation group A | Ikke registreret | I 1 tilstand |
| FANCD2FA complementation group D2 | Ikke registreret | I 1 tilstand |
| FANCEFA complementation group E | Ikke registreret | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ikke registreret | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registreret | I 1 tilstand |
| PLECplectin | Ikke registreret | I 1 tilstand |
| RAD51CRAD51 paralog C | Ikke registreret | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registreret | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Ikke registreret | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Ikke registreret | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | 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
- Enlarged heart150 gener
- Abnormal cardiac septum morphology105 gener
- Abnormal heart valve morphology63 gener
- Abnormal endocardium morphology33 gener
- Abnormal myocardium morphology22 gener
- Heart tumor4 gener
- Underdeveloped cardiac ventricle3 gener
- Congenital malformation of the left heart2 gener
- Abnormal anatomic location of the heart1 gen
- Abnormal cardiac ventricle morphology1 gen
- Abnormal cardiomyocyte morphology1 gen
- Abnormal cardiac magnetic resonance imaging finding
- Abnormal connection of the cardiac segments
- Abnormal pericardium morphology
- Abnormal spatial orientation of the cardiac segments
- Abnormality of heart atrium
- Congenital malformation of the right heart
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 2026.10.17-8666dff2.
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger