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Cecha
Abnormality of the heart
Nazwa kliniczna: Abnormal heart morphology
Any structural anomaly of the heart.
Podsumowanie
- Znana także jako
- Abnormally shaped heart, Heart defect, Abnormality of cardiac morphology, Cardiac abnormality, Cardiac anomalies, Cardiac anomaly, Congenital heart defect, Congenital heart defects
- Układ organizmu
- Abnormality of the cardiovascular system
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Ta strona jako dane
Aby odczytać ją jako JSON, dodaj .json na końcu adresu strony lub zażądaj application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-heart-morphology.json"
page <- fromJSON(url)
page$trait$nameAbnormality of the heartHP:0001627
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Abnormality of the heart oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test270 genów powiązanych z Abnormality of the heart
Zmiany w tych genach powodują rzadkie choroby, w których występuje Abnormality of the heart. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 1 chorobie |
| ZMYM3zinc finger MYM-type containing 3 | Zawsze | W 1 chorobie |
| NKX2-5NK2 homeobox 5 | Bardzo często (80–99%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| PAHphenylalanine hydroxylase | Bardzo często (80–99%) | W 1 chorobie |
| PLXND1plexin D1 | Bardzo często (80–99%) | W 1 chorobie |
| TKTtransketolase | Bardzo często (80–99%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Bardzo często (80–99%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Często (30–79%) | W 2 chorobach |
| AFF4ALF transcription elongation factor 4 | Często (30–79%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Często (30–79%) | W 2 chorobach |
| ARID1AAT-rich interaction domain 1A | Często (30–79%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Często (30–79%) | W 1 chorobie |
| CDC42cell division cycle 42 | Często (30–79%) | W 1 chorobie |
| COG7component of oligomeric golgi complex 7 | Często (30–79%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Często (30–79%) | W 3 chorobach |
| DPF2double PHD fingers 2 | Często (30–79%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Często (30–79%) | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Często (30–79%) | W 1 chorobie |
| FLNAfilamin A | Często (30–79%) | W 1 chorobie |
| FOXP1forkhead box P1 | Często (30–79%) | W 1 chorobie |
| GCKglucokinase | Często (30–79%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Często (30–79%) | W 2 chorobach |
| INSinsulin | Często (30–79%) | W 1 chorobie |
| INTS1integrator complex subunit 1 | Często (30–79%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Często (30–79%) | W 2 chorobach |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 1 chorobie |
| KMT2Clysine methyltransferase 2C | Często (30–79%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 1 chorobie |
| LMBRD1LMBR1 domain containing 1 | Często (30–79%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Często (30–79%) | W 1 chorobie |
| NF1neurofibromin 1 | Często (30–79%) | W 2 chorobach |
| NPPAnatriuretic peptide A | Często (30–79%) | W 1 chorobie |
| PDX1pancreatic and duodenal homeobox 1 | Często (30–79%) | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Często (30–79%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Często (30–79%) | W 1 chorobie |
| RAC1Rac family small GTPase 1 | Często (30–79%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 3 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Często (30–79%) | W 1 chorobie |
Pokaż jeszcze 230 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| SCN5Asodium voltage-gated channel alpha subunit 5 | Często (30–79%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Często (30–79%) | W 1 chorobie |
| SLC25A24solute carrier family 25 member 24 | Często (30–79%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 2 chorobach |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Często (30–79%) | W 1 chorobie |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Często (30–79%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Często (30–79%) | W 1 chorobie |
| SOX11SRY-box transcription factor 11 | Często (30–79%) | W 1 chorobie |
| SOX4SRY-box transcription factor 4 | Często (30–79%) | W 1 chorobie |
| STAT3signal transducer and activator of transcription 3 | Często (30–79%) | W 1 chorobie |
| THOC6THO complex subunit 6 | Często (30–79%) | W 1 chorobie |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Często (30–79%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Często (30–79%) | W 3 chorobach |
| ACTA1actin alpha 1, skeletal muscle | Czasami (5–29%) | W 1 chorobie |
| ADA2adenosine deaminase 2 | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Czasami (5–29%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Czasami (5–29%) | W 1 chorobie |
| ATRXATRX chromatin remodeler | Czasami (5–29%) | W 1 chorobie |
| AUTS2activator of transcription and developmental regulator AUTS2 | Czasami (5–29%) | W 1 chorobie |
| BBIP1BBSome interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Czasami (5–29%) | W 1 chorobie |
| BBS10Bardet-Biedl syndrome 10 | Czasami (5–29%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Czasami (5–29%) | W 1 chorobie |
| BBS2Bardet-Biedl syndrome 2 | Czasami (5–29%) | W 1 chorobie |
| BBS4Bardet-Biedl syndrome 4 | Czasami (5–29%) | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | Czasami (5–29%) | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Czasami (5–29%) | W 1 chorobie |
| BBS9Bardet-Biedl syndrome 9 | Czasami (5–29%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Czasami (5–29%) | W 1 chorobie |
| BRWD1bromodomain and WD repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Czasami (5–29%) | W 1 chorobie |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Czasami (5–29%) | W 1 chorobie |
| CCNOcyclin O | Czasami (5–29%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Czasami (5–29%) | W 4 chorobach |
| CEP19centrosomal protein 19 | Czasami (5–29%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Czasami (5–29%) | W 1 chorobie |
| CFAP221cilia and flagella associated protein 221 | Czasami (5–29%) | W 1 chorobie |
| CFAP298cilia and flagella associated protein 298 | Czasami (5–29%) | W 1 chorobie |
| CFAP300cilia and flagella associated protein 300 | Czasami (5–29%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Czasami (5–29%) | W 1 chorobie |
| CFAP74cilia and flagella associated protein 74 | Czasami (5–29%) | W 1 chorobie |
| CHST14carbohydrate sulfotransferase 14 | Czasami (5–29%) | W 1 chorobie |
| CLXNcalaxin | Czasami (5–29%) | W 1 chorobie |
| COL25A1collagen type XXV alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Czasami (5–29%) | W 4 chorobach |
| DAW1dynein assembly factor with WD repeats 1 | Czasami (5–29%) | W 1 chorobie |
| DCHS1dachsous cadherin-related 1 | Czasami (5–29%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Czasami (5–29%) | W 4 chorobach |
| DLK1delta like non-canonical Notch ligand 1 | Czasami (5–29%) | W 2 chorobach |
| DLL1delta like canonical Notch ligand 1 | Czasami (5–29%) | W 4 chorobach |
| DNAAF1dynein axonemal assembly factor 1 | Czasami (5–29%) | W 1 chorobie |
| DNAAF11dynein axonemal assembly factor 11 | Czasami (5–29%) | W 1 chorobie |
| DNAAF19dynein axonemal assembly factor 19 | Czasami (5–29%) | W 1 chorobie |
| DNAAF2dynein axonemal assembly factor 2 | Czasami (5–29%) | W 1 chorobie |
| DNAAF3dynein axonemal assembly factor 3 | Czasami (5–29%) | W 1 chorobie |
| DNAAF4dynein axonemal assembly factor 4 | Czasami (5–29%) | W 1 chorobie |
| DNAAF5dynein axonemal assembly factor 5 | Czasami (5–29%) | W 1 chorobie |
| DNAAF6dynein axonemal assembly factor 6 | Czasami (5–29%) | W 1 chorobie |
| DNAH1dynein axonemal heavy chain 1 | Czasami (5–29%) | W 1 chorobie |
| DNAH11dynein axonemal heavy chain 11 | Czasami (5–29%) | W 1 chorobie |
| DNAH5dynein axonemal heavy chain 5 | Czasami (5–29%) | W 1 chorobie |
| DNAH7dynein axonemal heavy chain 7 | Czasami (5–29%) | W 1 chorobie |
| DNAH9dynein axonemal heavy chain 9 | Czasami (5–29%) | W 1 chorobie |
| DNAI1dynein axonemal intermediate chain 1 | Czasami (5–29%) | W 1 chorobie |
| DNAI2dynein axonemal intermediate chain 2 | Czasami (5–29%) | W 1 chorobie |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Czasami (5–29%) | W 1 chorobie |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Czasami (5–29%) | W 1 chorobie |
| DNAL1dynein axonemal light chain 1 | Czasami (5–29%) | W 1 chorobie |
| DRC1dynein regulatory complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| DRC2dynein regulatory complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| DRC4dynein regulatory complex subunit 4 | Czasami (5–29%) | W 1 chorobie |
| DSEdermatan sulfate epimerase | Czasami (5–29%) | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Czasami (5–29%) | W 1 chorobie |
| EFL1elongation factor like GTPase 1 | Czasami (5–29%) | W 1 chorobie |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Czasami (5–29%) | W 1 chorobie |
| FAM149B1family with sequence similarity 149 member B1 | Czasami (5–29%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 4 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 2 chorobach |
| FGFR2fibroblast growth factor receptor 2 | Czasami (5–29%) | W 2 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Czasami (5–29%) | W 1 chorobie |
| FOXH1forkhead box H1 | Czasami (5–29%) | W 4 chorobach |
| FOXJ1forkhead box J1 | Czasami (5–29%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Czasami (5–29%) | W 4 chorobach |
| GAS2L2growth arrest specific 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| GATA1GATA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Czasami (5–29%) | W 4 chorobach |
| GLI3GLI family zinc finger 3 | Czasami (5–29%) | W 1 chorobie |
| GRB10growth factor receptor bound protein 10 | Czasami (5–29%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| HEATR3HEAT repeat containing 3 | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| HYDINHYDIN axonemal central pair apparatus protein | Czasami (5–29%) | W 1 chorobie |
| HYMAIhydatidiform mole associated and imprinted | Czasami (5–29%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Czasami (5–29%) | W 1 chorobie |
| IFT27intraflagellar transport 27 | Czasami (5–29%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Czasami (5–29%) | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Czasami (5–29%) | W 1 chorobie |
| KIAA0753KIAA0753 | Czasami (5–29%) | W 1 chorobie |
| KIF7kinesin family member 7 | Czasami (5–29%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Czasami (5–29%) | W 1 chorobie |
| LRRC56leucine rich repeat containing 56 | Czasami (5–29%) | W 1 chorobie |
| LZTFL1leucine zipper transcription factor like 1 | Czasami (5–29%) | W 1 chorobie |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Czasami (5–29%) | W 1 chorobie |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Czasami (5–29%) | W 1 chorobie |
| MED13Lmediator complex subunit 13L | Czasami (5–29%) | W 1 chorobie |
| MEG3maternally expressed 3 | Czasami (5–29%) | W 2 chorobach |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 1 chorobie |
| MID1midline 1 | Czasami (5–29%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Czasami (5–29%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MMACHCmetabolism of cobalamin associated C | Czasami (5–29%) | W 1 chorobie |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Czasami (5–29%) | W 1 chorobie |
| MYL2myosin light chain 2 | Czasami (5–29%) | W 1 chorobie |
| NEK10NIMA related kinase 10 | Czasami (5–29%) | W 1 chorobie |
| NEU1neuraminidase 1 | Czasami (5–29%) | W 2 chorobach |
| NIPA1NIPA magnesium transporter 1 | Czasami (5–29%) | W 1 chorobie |
| NIPA2NIPA magnesium transporter 2 | Czasami (5–29%) | W 1 chorobie |
| NME5NME/NM23 family member 5 | Czasami (5–29%) | W 1 chorobie |
| NME8NME/NM23 family member 8 | Czasami (5–29%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Czasami (5–29%) | W 4 chorobach |
| NPHP1nephrocystin 1 | Czasami (5–29%) | W 1 chorobie |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Czasami (5–29%) | W 1 chorobie |
| ODAD1outer dynein arm docking complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| ODAD2outer dynein arm docking complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| ODAD3outer dynein arm docking complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ODAD4outer dynein arm docking complex subunit 4 | Czasami (5–29%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Czasami (5–29%) | W 3 chorobach |
| PDE6Dphosphodiesterase 6D | Czasami (5–29%) | W 1 chorobie |
| PLAGL1PLAG1 like zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Czasami (5–29%) | W 1 chorobie |
| PORCNporcupine O-acyltransferase | Czasami (5–29%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Czasami (5–29%) | W 1 chorobie |
| PTCH1patched 1 | Czasami (5–29%) | W 4 chorobach |
| PTENphosphatase and tensin homolog | Czasami (5–29%) | W 1 chorobie |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Czasami (5–29%) | W 1 chorobie |
| RPGRretinitis pigmentosa GTPase regulator | Czasami (5–29%) | W 1 chorobie |
| RPL11ribosomal protein L11 | Czasami (5–29%) | W 1 chorobie |
| RPL15ribosomal protein L15 | Czasami (5–29%) | W 1 chorobie |
| RPL18ribosomal protein L18 | Czasami (5–29%) | W 1 chorobie |
| RPL26ribosomal protein L26 | Czasami (5–29%) | W 1 chorobie |
| RPL27ribosomal protein L27 | Czasami (5–29%) | W 1 chorobie |
| RPL31ribosomal protein L31 | Czasami (5–29%) | W 1 chorobie |
| RPL35ribosomal protein L35 | Czasami (5–29%) | W 1 chorobie |
| RPL35Aribosomal protein L35a | Czasami (5–29%) | W 1 chorobie |
| RPL5ribosomal protein L5 | Czasami (5–29%) | W 1 chorobie |
| RPL8ribosomal protein L8 | Czasami (5–29%) | W 1 chorobie |
| RPL9ribosomal protein L9 | Czasami (5–29%) | W 1 chorobie |
| RPS10ribosomal protein S10 | Czasami (5–29%) | W 1 chorobie |
| RPS15Aribosomal protein S15a | Czasami (5–29%) | W 1 chorobie |
| RPS17ribosomal protein S17 | Czasami (5–29%) | W 1 chorobie |
| RPS19ribosomal protein S19 | Czasami (5–29%) | W 1 chorobie |
| RPS20ribosomal protein S20 | Czasami (5–29%) | W 1 chorobie |
| RPS24ribosomal protein S24 | Czasami (5–29%) | W 1 chorobie |
| RPS26ribosomal protein S26 | Czasami (5–29%) | W 1 chorobie |
| RPS27ribosomal protein S27 | Czasami (5–29%) | W 1 chorobie |
| RPS28ribosomal protein S28 | Czasami (5–29%) | W 1 chorobie |
| RPS29ribosomal protein S29 | Czasami (5–29%) | W 1 chorobie |
| RPS7ribosomal protein S7 | Czasami (5–29%) | W 1 chorobie |
| RSPH1radial spoke head component 1 | Czasami (5–29%) | W 1 chorobie |
| RSPH3radial spoke head 3 | Czasami (5–29%) | W 1 chorobie |
| RSPH4Aradial spoke head component 4A | Czasami (5–29%) | W 1 chorobie |
| RSPH9radial spoke head component 9 | Czasami (5–29%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Czasami (5–29%) | W 2 chorobach |
| SBDSSBDS ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| SCAPERS-phase cyclin A associated protein in the ER | Czasami (5–29%) | W 1 chorobie |
| SCLT1sodium channel and clathrin linker 1 | Czasami (5–29%) | W 1 chorobie |
| SCYL2SCY1 like pseudokinase 2 | Czasami (5–29%) | W 1 chorobie |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Czasami (5–29%) | W 1 chorobie |
| SELENONselenoprotein N | Czasami (5–29%) | W 1 chorobie |
| SH2B1SH2B adaptor protein 1 | Czasami (5–29%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Czasami (5–29%) | W 4 chorobach |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Czasami (5–29%) | W 4 chorobach |
| SKIC2SKI2 subunit of superkiller complex | Czasami (5–29%) | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Czasami (5–29%) | W 1 chorobie |
| SLC35A2solute carrier family 35 member A2 | Czasami (5–29%) | W 1 chorobie |
| SLC7A7solute carrier family 7 member 7 | Czasami (5–29%) | W 1 chorobie |
| SMAD3SMAD family member 3 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| SPAG1sperm associated antigen 1 | Czasami (5–29%) | W 1 chorobie |
| SPEF2sperm flagellar and cilia associated 2 | Czasami (5–29%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Czasami (5–29%) | W 2 chorobach |
| STILSTIL centriolar assembly protein | Czasami (5–29%) | W 4 chorobach |
| STK36serine/threonine kinase 36 | Czasami (5–29%) | W 1 chorobie |
| TCTN3tectonic family member 3 | Czasami (5–29%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Czasami (5–29%) | W 4 chorobach |
| TMEM216transmembrane protein 216 | Czasami (5–29%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Czasami (5–29%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Czasami (5–29%) | W 1 chorobie |
| TPM2tropomyosin 2 | Czasami (5–29%) | W 1 chorobie |
| TPM3tropomyosin 3 | Czasami (5–29%) | W 1 chorobie |
| TRIM32tripartite motif containing 32 | Czasami (5–29%) | W 1 chorobie |
| TSR2TSR2 ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| TTC12tetratricopeptide repeat domain 12 | Czasami (5–29%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Czasami (5–29%) | W 1 chorobie |
| TUBG1tubulin gamma 1 | Czasami (5–29%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Czasami (5–29%) | W 2 chorobach |
| WDPCPWD repeat containing planar cell polarity effector | Czasami (5–29%) | W 1 chorobie |
| ZFP57ZFP57 zinc finger protein | Czasami (5–29%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Czasami (5–29%) | W 4 chorobach |
| ZMYND10zinc finger MYND-type containing 10 | Czasami (5–29%) | W 1 chorobie |
| ZNF462zinc finger protein 462 | Czasami (5–29%) | W 1 chorobie |
| ATN1atrophin 1 | Rzadko (1–4%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rzadko (1–4%) | W 1 chorobie |
| GATA3GATA binding protein 3 | Rzadko (1–4%) | W 1 chorobie |
| LEMD3LEM domain containing 3 | Rzadko (1–4%) | W 1 chorobie |
| PBX1PBX homeobox 1 | Rzadko (1–4%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Rzadko (1–4%) | W 1 chorobie |
| RLIMring finger protein, LIM domain interacting | Rzadko (1–4%) | W 1 chorobie |
| FANCAFA complementation group A | Nie odnotowano | W 1 chorobie |
| FANCD2FA complementation group D2 | Nie odnotowano | W 1 chorobie |
| FANCEFA complementation group E | Nie odnotowano | W 1 chorobie |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nie odnotowano | W 1 chorobie |
| MED12mediator complex subunit 12 | Nie odnotowano | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Nie odnotowano | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nie odnotowano | W 1 chorobie |
| PLECplectin | Nie odnotowano | W 1 chorobie |
| RAD51CRAD51 paralog C | Nie odnotowano | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Nie odnotowano | W 1 chorobie |
| SOX9SRY-box transcription factor 9 | Nie odnotowano | W 1 chorobie |
| TCOF1treacle ribosome biogenesis factor 1 | Nie odnotowano | W 1 chorobie |
| TMEM126Btransmembrane protein 126B | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
- Enlarged heart150 genów
- Abnormal cardiac septum morphology105 genów
- Abnormal heart valve morphology63 genów
- Abnormal endocardium morphology33 genów
- Abnormal myocardium morphology22 genów
- Heart tumor4 genów
- Underdeveloped cardiac ventricle3 genów
- Congenital malformation of the left heart2 genów
- 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
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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