Egenskap
Abnormality of the heart
Klinisk navn: Abnormal heart morphology
Any structural anomaly of the heart.
Sammendrag
- Også kalt
- Abnormally shaped heart, Heart defect, Abnormality of cardiac morphology, Cardiac abnormality, Cardiac anomalies, Cardiac anomaly, Congenital heart defect, Congenital heart defects
- Kroppssystem
- Abnormality of the cardiovascular system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
Read the genes linked to Abnormality of the heart, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test270 gener knyttet til Abnormality of the heart
Endringer i disse genene forårsaker sjeldne tilstander der Abnormality of the heart forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Svært ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PAHphenylalanine hydroxylase | Svært ofte (80–99 %) | I 1 tilstand |
| PLXND1plexin D1 | Svært ofte (80–99 %) | I 1 tilstand |
| TKTtransketolase | Svært ofte (80–99 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Svært ofte (80–99 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ofte (30–79 %) | I 2 tilstander |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 1 tilstand |
Vis 230 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| 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 tilstander |
| 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 tilstander |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Noen ganger (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CCNOcyclin O | Noen ganger (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Noen ganger (5–29 %) | I 4 tilstander |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP221cilia and flagella associated protein 221 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP298cilia and flagella associated protein 298 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP300cilia and flagella associated protein 300 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP74cilia and flagella associated protein 74 | Noen ganger (5–29 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Noen ganger (5–29 %) | I 1 tilstand |
| CLXNcalaxin | Noen ganger (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Noen ganger (5–29 %) | I 4 tilstander |
| DAW1dynein assembly factor with WD repeats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Noen ganger (5–29 %) | I 4 tilstander |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DLL1delta like canonical Notch ligand 1 | Noen ganger (5–29 %) | I 4 tilstander |
| DNAAF1dynein axonemal assembly factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAAF11dynein axonemal assembly factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAAF19dynein axonemal assembly factor 19 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAAF2dynein axonemal assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAAF3dynein axonemal assembly factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAAF4dynein axonemal assembly factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAAF5dynein axonemal assembly factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAAF6dynein axonemal assembly factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAH5dynein axonemal heavy chain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAH7dynein axonemal heavy chain 7 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAH9dynein axonemal heavy chain 9 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAI1dynein axonemal intermediate chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAI2dynein axonemal intermediate chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAL1dynein axonemal light chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DRC1dynein regulatory complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DRC2dynein regulatory complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DRC4dynein regulatory complex subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Noen ganger (5–29 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Noen ganger (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FGFR2fibroblast growth factor receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Noen ganger (5–29 %) | I 4 tilstander |
| FOXJ1forkhead box J1 | Noen ganger (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Noen ganger (5–29 %) | I 4 tilstander |
| GAS2L2growth arrest specific 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 4 tilstander |
| GLI3GLI family zinc finger 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Noen ganger (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Noen ganger (5–29 %) | I 1 tilstand |
| HYMAIhydatidiform mole associated and imprinted | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Noen ganger (5–29 %) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Noen ganger (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 2 tilstander |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Noen ganger (5–29 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NIPA1NIPA magnesium transporter 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NME5NME/NM23 family member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| NME8NME/NM23 family member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 4 tilstander |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Noen ganger (5–29 %) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ODAD2outer dynein arm docking complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ODAD4outer dynein arm docking complex subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 3 tilstander |
| PDE6Dphosphodiesterase 6D | Noen ganger (5–29 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Noen ganger (5–29 %) | I 4 tilstander |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Noen ganger (5–29 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL15ribosomal protein L15 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Noen ganger (5–29 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL8ribosomal protein L8 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Noen ganger (5–29 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Noen ganger (5–29 %) | I 1 tilstand |
| RSPH1radial spoke head component 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RSPH3radial spoke head 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RSPH4Aradial spoke head component 4A | Noen ganger (5–29 %) | I 1 tilstand |
| RSPH9radial spoke head component 9 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SBDSSBDS ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Noen ganger (5–29 %) | I 4 tilstander |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 4 tilstander |
| SKIC2SKI2 subunit of superkiller complex | Noen ganger (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Noen ganger (5–29 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| SPAG1sperm associated antigen 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPEF2sperm flagellar and cilia associated 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Noen ganger (5–29 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Noen ganger (5–29 %) | I 4 tilstander |
| STK36serine/threonine kinase 36 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Noen ganger (5–29 %) | I 4 tilstander |
| TMEM216transmembrane protein 216 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Noen ganger (5–29 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| ZFP57ZFP57 zinc finger protein | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Noen ganger (5–29 %) | I 4 tilstander |
| ZMYND10zinc finger MYND-type containing 10 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Noen ganger (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Sjelden (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjelden (1–4%) | I 1 tilstand |
| GATA3GATA binding protein 3 | Sjelden (1–4%) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Sjelden (1–4%) | I 1 tilstand |
| PBX1PBX homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Sjelden (1–4%) | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Sjelden (1–4%) | I 1 tilstand |
| FANCAFA complementation group A | Ikke registrert | I 1 tilstand |
| FANCD2FA complementation group D2 | Ikke registrert | I 1 tilstand |
| FANCEFA complementation group E | Ikke registrert | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ikke registrert | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registrert | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registrert | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registrert | I 1 tilstand |
| PLECplectin | Ikke registrert | I 1 tilstand |
| RAD51CRAD51 paralog C | Ikke registrert | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registrert | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Ikke registrert | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Ikke registrert | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
- 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 egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker