Tunnus
Abnormality of the heart
Kliiniline nimetus: Abnormal heart morphology
Any structural anomaly of the heart.
Kokkuvõte
- Teised nimetused
- Abnormally shaped heart, Heart defect, Abnormality of cardiac morphology, Cardiac abnormality, Cardiac anomalies, Cardiac anomaly, Congenital heart defect, Congenital heart defects
- Kehasüsteem
- Abnormality of the cardiovascular system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Abnormality of the heart, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test270 geeni on seotud tunnusega Abnormality of the heart
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormality of the heart. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 1 haiguses |
| ZMYM3zinc finger MYM-type containing 3 | Alati | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PAHphenylalanine hydroxylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLXND1plexin D1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TKTtransketolase | Väga sageli (80–99%) | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Sageli (30–79%) | Esineb 2 haiguses |
| AFF4ALF transcription elongation factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Sageli (30–79%) | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Sageli (30–79%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Sageli (30–79%) | Esineb 3 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| FLNAfilamin A | Sageli (30–79%) | Esineb 1 haiguses |
| FOXP1forkhead box P1 | Sageli (30–79%) | Esineb 1 haiguses |
| GCKglucokinase | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sageli (30–79%) | Esineb 2 haiguses |
| INSinsulin | Sageli (30–79%) | Esineb 1 haiguses |
| INTS1integrator complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sageli (30–79%) | Esineb 2 haiguses |
| KDM6Alysine demethylase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Clysine methyltransferase 2C | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Sageli (30–79%) | Esineb 1 haiguses |
| LMBRD1LMBR1 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NPPAnatriuretic peptide A | Sageli (30–79%) | Esineb 1 haiguses |
| PDX1pancreatic and duodenal homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Sageli (30–79%) | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Sageli (30–79%) | Esineb 1 haiguses |
| RAC1Rac family small GTPase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 3 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 230 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SCN5Asodium voltage-gated channel alpha subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX4SRY-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 1 haiguses |
| THOC6THO complex subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sageli (30–79%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Sageli (30–79%) | Esineb 3 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Mõnikord (5–29%) | Esineb 1 haiguses |
| AUTS2activator of transcription and developmental regulator AUTS2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBIP1BBSome interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMPR1Abone morphogenetic protein receptor type 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRWD1bromodomain and WD repeat domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCNOcyclin O | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDONcell adhesion associated, oncogene regulated | Mõnikord (5–29%) | Esineb 4 haiguses |
| CEP19centrosomal protein 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP221cilia and flagella associated protein 221 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP298cilia and flagella associated protein 298 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP300cilia and flagella associated protein 300 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP74cilia and flagella associated protein 74 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLXNcalaxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL25A1collagen type XXV alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRIPTOcripto, EGF-CFC family member | Mõnikord (5–29%) | Esineb 4 haiguses |
| DAW1dynein assembly factor with WD repeats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCHS1dachsous cadherin-related 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DISP1dispatched RND transporter family member 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DLL1delta like canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| DNAAF1dynein axonemal assembly factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAAF11dynein axonemal assembly factor 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAAF19dynein axonemal assembly factor 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAAF2dynein axonemal assembly factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAAF3dynein axonemal assembly factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAAF4dynein axonemal assembly factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAAF5dynein axonemal assembly factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAAF6dynein axonemal assembly factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAH1dynein axonemal heavy chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAH11dynein axonemal heavy chain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAH5dynein axonemal heavy chain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAH7dynein axonemal heavy chain 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAH9dynein axonemal heavy chain 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAI1dynein axonemal intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAI2dynein axonemal intermediate chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAL1dynein axonemal light chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DRC1dynein regulatory complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DRC2dynein regulatory complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DRC4dynein regulatory complex subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EFL1elongation factor like GTPase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM149B1family with sequence similarity 149 member B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 4 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXH1forkhead box H1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| FOXJ1forkhead box J1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAS1growth arrest specific 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| GAS2L2growth arrest specific 2 like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA1GATA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Mõnikord (5–29%) | Esineb 4 haiguses |
| GLI3GLI family zinc finger 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRB10growth factor receptor bound protein 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEATR3HEAT repeat containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HYDINHYDIN axonemal central pair apparatus protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| HYMAIhydatidiform mole associated and imprinted | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGA7integrin subunit alpha 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRRC56leucine rich repeat containing 56 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MID1midline 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYL2myosin light chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEK10NIMA related kinase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NIPA1NIPA magnesium transporter 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NIPA2NIPA magnesium transporter 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NME5NME/NM23 family member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NME8NME/NM23 family member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Mõnikord (5–29%) | Esineb 4 haiguses |
| NPHP1nephrocystin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Mõnikord (5–29%) | Esineb 1 haiguses |
| ODAD1outer dynein arm docking complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ODAD2outer dynein arm docking complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ODAD3outer dynein arm docking complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ODAD4outer dynein arm docking complex subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Mõnikord (5–29%) | Esineb 3 haiguses |
| PDE6Dphosphodiesterase 6D | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLAGL1PLAG1 like zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLCH1phospholipase C eta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL15ribosomal protein L15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL18ribosomal protein L18 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL26ribosomal protein L26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL27ribosomal protein L27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL31ribosomal protein L31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL35ribosomal protein L35 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL35Aribosomal protein L35a | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL5ribosomal protein L5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL8ribosomal protein L8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL9ribosomal protein L9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS10ribosomal protein S10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS15Aribosomal protein S15a | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS17ribosomal protein S17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS19ribosomal protein S19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS20ribosomal protein S20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS24ribosomal protein S24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS26ribosomal protein S26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS27ribosomal protein S27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS28ribosomal protein S28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS29ribosomal protein S29 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS7ribosomal protein S7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RSPH1radial spoke head component 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RSPH3radial spoke head 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RSPH4Aradial spoke head component 4A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RSPH9radial spoke head component 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SBDSSBDS ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCYL2SCY1 like pseudokinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SH2B1SH2B adaptor protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Mõnikord (5–29%) | Esineb 4 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX3SIX homeobox 3 | Mõnikord (5–29%) | Esineb 4 haiguses |
| SKIC2SKI2 subunit of superkiller complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC7A7solute carrier family 7 member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPAG1sperm associated antigen 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPEF2sperm flagellar and cilia associated 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAG2STAG2 cohesin complex component | Mõnikord (5–29%) | Esineb 2 haiguses |
| STILSTIL centriolar assembly protein | Mõnikord (5–29%) | Esineb 4 haiguses |
| STK36serine/threonine kinase 36 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGIF1TGFB induced factor homeobox 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| TMEM216transmembrane protein 216 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSR2TSR2 ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC12tetratricopeptide repeat domain 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBG1tubulin gamma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFP57ZFP57 zinc finger protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZIC2Zic family zinc finger 2 | Mõnikord (5–29%) | Esineb 4 haiguses |
| ZMYND10zinc finger MYND-type containing 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF462zinc finger protein 462 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATN1atrophin 1 | Harva (1–4%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Harva (1–4%) | Esineb 1 haiguses |
| GATA3GATA binding protein 3 | Harva (1–4%) | Esineb 1 haiguses |
| LEMD3LEM domain containing 3 | Harva (1–4%) | Esineb 1 haiguses |
| PBX1PBX homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Harva (1–4%) | Esineb 1 haiguses |
| RLIMring finger protein, LIM domain interacting | Harva (1–4%) | Esineb 1 haiguses |
| FANCAFA complementation group A | Pole registreeritud | Esineb 1 haiguses |
| FANCD2FA complementation group D2 | Pole registreeritud | Esineb 1 haiguses |
| FANCEFA complementation group E | Pole registreeritud | Esineb 1 haiguses |
| FRAS1Fraser extracellular matrix complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Pole registreeritud | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Pole registreeritud | Esineb 1 haiguses |
| PLECplectin | Pole registreeritud | Esineb 1 haiguses |
| RAD51CRAD51 paralog C | Pole registreeritud | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Pole registreeritud | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Pole registreeritud | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TMEM126Btransmembrane protein 126B | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
- Enlarged heart150 geeni
- Abnormal cardiac septum morphology105 geeni
- Abnormal heart valve morphology63 geeni
- Abnormal endocardium morphology33 geeni
- Abnormal myocardium morphology22 geeni
- Heart tumor4 geeni
- Underdeveloped cardiac ventricle3 geeni
- Congenital malformation of the left heart2 geeni
- Abnormal anatomic location of the heart1 geen
- Abnormal cardiac ventricle morphology1 geen
- Abnormal cardiomyocyte morphology1 geen
- 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
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast