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Merkmal
Abnormality of the heart
Klinische Bezeichnung: Abnormal heart morphology
Any structural anomaly of the heart.
Zusammenfassung
- Auch genannt
- Abnormally shaped heart, Heart defect, Abnormality of cardiac morphology, Cardiac abnormality, Cardiac anomalies, Cardiac anomaly, Congenital heart defect, Congenital heart defects
- Körpersystem
- Abnormality of the cardiovascular system
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Diese Seite als Daten
Hängen Sie .json an die Adresse der Seite an oder fordern Sie application/json an, um sie als JSON zu lesen.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-heart-morphology.json"
page <- fromJSON(url)
page$trait$nameAbnormality of the heartHP:0001627
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Meinen Genome Test bestellen120 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
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- Diamond-Blackfan AnemiaReads 14 of these genesGATA1HEATR3RPL11RPL15RPL26RPL35AAbout this report →
- Coffin-Siris SyndromeReads 11 of these genesARID1AARID1BARID2DPF2SMARCA4SMARCB1About this report →
Show 116 more reports
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 10 of these genesCDONDISP1GLI2GLI3PLCH1PTCH1About this report →
- Joubert Syndrome And Related DisordersReads 11 of these genesCEP290CPLANE1FAM149B1KIF7MKS1NPHP1About this report →
- Intellectual DisabilityReads 27 of these genesZMYM3ARID1AARID1BCREBBPEHMT1EP300About this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- Maturity-Onset Diabetes Of The YoungReads 5 of these genesABCC8GCKINSKCNJ11PDX1About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Shwachman-Diamond SyndromeReads 2 of these genesEFL1SBDSAbout this report →
- Neonatal Diabetes MellitusReads 6 of these genesABCC8GCKINSKCNJ11PDX1ZFP57About this report →
- Syndromic CraniosynostosisReads 6 of these genesFGFR1FGFR2FGFR3TWIST1ZNF462RECQL4About this report →
- Congenital MyopathiesReads 5 of these genesACTA1MAP3K20SELENONTPM2TPM3About this report →
- Diabetes MellitusReads 6 of these genesABCC8GCKINSKCNJ11PDX1ZFP57About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 2 of these genesRERESOX11About this report →
- NeurofibromatosisReads 2 of these genesNF1SMARCB1About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Beaulieu-Boycott-Innes Syndrome (THOC6)Reads 1 of these genesTHOC6About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Brugada SyndromeReads 1 of these genesSCN5AAbout this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- DLL1-Related Neurodevelopmental DisorderReads 1 of these genesDLL1About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- MEND SyndromeReads 1 of these genesEBPAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Mucopolysaccharidosis-Plus SyndromeReads 1 of these genesVPS33AAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- PBX1-Related Kidney and Urinary Tract AnomaliesReads 1 of these genesPBX1About this report →
- PDX1-Related Pancreatic AgenesisReads 1 of these genesPDX1About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Fanconi AnemiaReads 4 of these genesFANCAFANCD2FANCERAD51CAbout this report →
- Congenital Disorders of GlycosylationReads 9 of these genesALG9COG7PIGTALG1CHST14DSEAbout this report →
- HyperinsulinismReads 3 of these genesABCC8GCKKCNJ11About this report →
- Retinitis PigmentosaReads 8 of these genesARL6BBS2CFAP418IFT172OFD1RPGRAbout this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Hereditary Mixed Polyposis SyndromeReads 1 of these genesBMPR1AAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesBMPR1AAbout this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT3About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesNSD1SNRPNAbout this report →
- Meckel SyndromeReads 2 of these genesMKS1TMEM231About this report →
- DNA Repair DiseaseReads 4 of these genesFANCAFANCD2FANCERAD51CAbout this report →
- Heterotaxy & Laterality DefectsReads 2 of these genesDAW1NODALAbout this report →
- Fraser SyndromeReads 1 of these genesFRAS1About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Hypogonadotropic HypogonadismReads 4 of these genesPLXND1FGF8FGFR1SNRPNAbout this report →
- Inherited Congenital Heart DefectsReads 2 of these genesNKX2-5FLNAAbout this report →
- Methylmalonic & Propionic AcidemiaReads 2 of these genesLMBRD1MMACHCAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 4 of these genesCEP290MKS1TMEM216TMEM231About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesAPC2TUBG1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 3 of these genesADA2SKIC2SKIC3About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Treacher Collins SyndromeReads 1 of these genesTCOF1About this report →
- GPI Anchor Biosynthesis DefectsReads 2 of these genesPIGTPIGVAbout this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesLMBRD1MMACHCAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesNPHP1SDCCAG8About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Ehlers-Danlos SyndromeReads 2 of these genesCHST14DSEAbout this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesAPC2TUBG1About this report →
- Inherited Neurodegenerative DisordersReads 8 of these genesITPR1CEP290MKS1NIPA1TMEM216TMEM231About this report →
- Cornelia de Lange SyndromeReads 1 of these genesSMC1AAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Loeys-Dietz SyndromeReads 1 of these genesSMAD3About this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesDNAJC21About this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNEU1About this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesCOL25A1About this report →
- Hyper-IgE SyndromeReads 1 of these genesSTAT3About this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesGATA3About this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesCEP19About this report →
- Congenital Muscular DystrophiesReads 2 of these genesITGA7SELENONAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesSCN5AAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesCDC42GATA1About this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesTRIM32PLECAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesITPR1ATN1About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesRAD51CAbout this report →
- Long QT SyndromeReads 1 of these genesSCN5AAbout this report →
- Marfan Like SyndromesReads 1 of these genesSMAD3About this report →
- Male InfertilityReads 2 of these genesDNAH1SPEF2About this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Epilepsy (Full Panel)Reads 4 of these genesFLNAZEB2SLC35A2SMC1AAbout this report →
- Urea Cycle DisorderReads 1 of these genesSLC7A7About this report →
- Other Inborn Errors of ImmunityReads 4 of these genesSTAT3SBDSSKIC2SKIC3About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX5About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesNSD1MYL2About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesSTILAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Epidermolysis BullosaReads 1 of these genesPLECAbout this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-5About this report →
- Autoimmune DiseaseReads 1 of these genesSTAT3About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 3 of these genesLRPPRCMMACHCPEX5About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesPLECAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesSHHAbout this report →
- Thyroid CancerReads 1 of these genesNKX2-5About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesLRPPRCTMEM126BAbout this report →
- Dilated CardiomyopathyReads 1 of these genesSCN5AAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesNEU1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesNIPA1About this report →
- Leigh SyndromeReads 1 of these genesLRPPRCAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPEX5About this report →
Lesen Sie die Gene aus, die mit Abnormality of the heart zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen270 Gene mit Abnormality of the heart verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Abnormality of the heart auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Immer | In 1 Erkrankung |
| ZMYM3zinc finger MYM-type containing 3 | Immer | In 1 Erkrankung |
| NKX2-5NK2 homeobox 5 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NSD1nuclear receptor binding SET domain protein 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PAHphenylalanine hydroxylase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PLXND1plexin D1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TKTtransketolase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| WACWW domain containing adaptor with coiled-coil | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ABCC8ATP binding cassette subfamily C member 8 | Häufig (30–79 %) | In 2 Erkrankungen |
| AFF4ALF transcription elongation factor 4 | Häufig (30–79 %) | In 1 Erkrankung |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Häufig (30–79 %) | In 2 Erkrankungen |
| ARID1AAT-rich interaction domain 1A | Häufig (30–79 %) | In 1 Erkrankung |
| ARID1BAT-rich interaction domain 1B | Häufig (30–79 %) | In 1 Erkrankung |
| ARID2AT-rich interaction domain 2 | Häufig (30–79 %) | In 1 Erkrankung |
| CDC42cell division cycle 42 | Häufig (30–79 %) | In 1 Erkrankung |
| COG7component of oligomeric golgi complex 7 | Häufig (30–79 %) | In 1 Erkrankung |
| CREBBPCREB binding lysine acetyltransferase | Häufig (30–79 %) | In 3 Erkrankungen |
| DPF2double PHD fingers 2 | Häufig (30–79 %) | In 1 Erkrankung |
| EHMT1euchromatic histone lysine methyltransferase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| EP300EP300 lysine acetyltransferase | Häufig (30–79 %) | In 1 Erkrankung |
| FLNAfilamin A | Häufig (30–79 %) | In 1 Erkrankung |
| FOXP1forkhead box P1 | Häufig (30–79 %) | In 1 Erkrankung |
| GCKglucokinase | Häufig (30–79 %) | In 1 Erkrankung |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Häufig (30–79 %) | In 2 Erkrankungen |
| INSinsulin | Häufig (30–79 %) | In 1 Erkrankung |
| INTS1integrator complex subunit 1 | Häufig (30–79 %) | In 1 Erkrankung |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Häufig (30–79 %) | In 2 Erkrankungen |
| KDM6Alysine demethylase 6A | Häufig (30–79 %) | In 1 Erkrankung |
| KMT2Clysine methyltransferase 2C | Häufig (30–79 %) | In 1 Erkrankung |
| KMT2Dlysine methyltransferase 2D | Häufig (30–79 %) | In 1 Erkrankung |
| LMBRD1LMBR1 domain containing 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Häufig (30–79 %) | In 1 Erkrankung |
| NF1neurofibromin 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| NPPAnatriuretic peptide A | Häufig (30–79 %) | In 1 Erkrankung |
| PDX1pancreatic and duodenal homeobox 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Häufig (30–79 %) | In 1 Erkrankung |
| PUF60poly(U) binding splicing factor 60 | Häufig (30–79 %) | In 1 Erkrankung |
| RAC1Rac family small GTPase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RAI1retinoic acid induced 1 | Häufig (30–79 %) | In 3 Erkrankungen |
| REREarginine-glutamic acid dipeptide repeats | Häufig (30–79 %) | In 1 Erkrankung |
230 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| SCN5Asodium voltage-gated channel alpha subunit 5 | Häufig (30–79 %) | In 1 Erkrankung |
| SETBP1SET binding protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SLC25A24solute carrier family 25 member 24 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Häufig (30–79 %) | In 2 Erkrankungen |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Häufig (30–79 %) | In 1 Erkrankung |
| SOX11SRY-box transcription factor 11 | Häufig (30–79 %) | In 1 Erkrankung |
| SOX4SRY-box transcription factor 4 | Häufig (30–79 %) | In 1 Erkrankung |
| STAT3signal transducer and activator of transcription 3 | Häufig (30–79 %) | In 1 Erkrankung |
| THOC6THO complex subunit 6 | Häufig (30–79 %) | In 1 Erkrankung |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Häufig (30–79 %) | In 1 Erkrankung |
| ZEB2zinc finger E-box binding homeobox 2 | Häufig (30–79 %) | In 3 Erkrankungen |
| ACTA1actin alpha 1, skeletal muscle | Manchmal (5–29 %) | In 1 Erkrankung |
| ADA2adenosine deaminase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ADNPactivity dependent neuroprotector homeobox | Manchmal (5–29 %) | In 1 Erkrankung |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| APC2APC regulator of Wnt signaling pathway 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ARL6ARF like GTPase 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| ATRXATRX chromatin remodeler | Manchmal (5–29 %) | In 1 Erkrankung |
| AUTS2activator of transcription and developmental regulator AUTS2 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBIP1BBSome interacting protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS1Bardet-Biedl syndrome 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS10Bardet-Biedl syndrome 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS12Bardet-Biedl syndrome 12 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS2Bardet-Biedl syndrome 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS4Bardet-Biedl syndrome 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS5Bardet-Biedl syndrome 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS7Bardet-Biedl syndrome 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS9Bardet-Biedl syndrome 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| BMPR1Abone morphogenetic protein receptor type 1A | Manchmal (5–29 %) | In 1 Erkrankung |
| BRWD1bromodomain and WD repeat domain containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| CCNOcyclin O | Manchmal (5–29 %) | In 1 Erkrankung |
| CDONcell adhesion associated, oncogene regulated | Manchmal (5–29 %) | In 4 Erkrankungen |
| CEP19centrosomal protein 19 | Manchmal (5–29 %) | In 1 Erkrankung |
| CEP290centrosomal protein 290 | Manchmal (5–29 %) | In 1 Erkrankung |
| CFAP221cilia and flagella associated protein 221 | Manchmal (5–29 %) | In 1 Erkrankung |
| CFAP298cilia and flagella associated protein 298 | Manchmal (5–29 %) | In 1 Erkrankung |
| CFAP300cilia and flagella associated protein 300 | Manchmal (5–29 %) | In 1 Erkrankung |
| CFAP418cilia and flagella associated protein 418 | Manchmal (5–29 %) | In 1 Erkrankung |
| CFAP74cilia and flagella associated protein 74 | Manchmal (5–29 %) | In 1 Erkrankung |
| CHST14carbohydrate sulfotransferase 14 | Manchmal (5–29 %) | In 1 Erkrankung |
| CLXNcalaxin | Manchmal (5–29 %) | In 1 Erkrankung |
| COL25A1collagen type XXV alpha 1 chain | Manchmal (5–29 %) | In 1 Erkrankung |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CRIPTOcripto, EGF-CFC family member | Manchmal (5–29 %) | In 4 Erkrankungen |
| DAW1dynein assembly factor with WD repeats 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DCHS1dachsous cadherin-related 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DISP1dispatched RND transporter family member 1 | Manchmal (5–29 %) | In 4 Erkrankungen |
| DLK1delta like non-canonical Notch ligand 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| DLL1delta like canonical Notch ligand 1 | Manchmal (5–29 %) | In 4 Erkrankungen |
| DNAAF1dynein axonemal assembly factor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAAF11dynein axonemal assembly factor 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAAF19dynein axonemal assembly factor 19 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAAF2dynein axonemal assembly factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAAF3dynein axonemal assembly factor 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAAF4dynein axonemal assembly factor 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAAF5dynein axonemal assembly factor 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAAF6dynein axonemal assembly factor 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAH1dynein axonemal heavy chain 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAH11dynein axonemal heavy chain 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAH5dynein axonemal heavy chain 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAH7dynein axonemal heavy chain 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAH9dynein axonemal heavy chain 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAI1dynein axonemal intermediate chain 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAI2dynein axonemal intermediate chain 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAL1dynein axonemal light chain 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DRC1dynein regulatory complex subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DRC2dynein regulatory complex subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| DRC4dynein regulatory complex subunit 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| DSEdermatan sulfate epimerase | Manchmal (5–29 %) | In 1 Erkrankung |
| EBPEBP cholestenol delta-isomerase | Manchmal (5–29 %) | In 1 Erkrankung |
| EFL1elongation factor like GTPase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FAM149B1family with sequence similarity 149 member B1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FAT4FAT atypical cadherin 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| FGF8fibroblast growth factor 8 | Manchmal (5–29 %) | In 4 Erkrankungen |
| FGFR1fibroblast growth factor receptor 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| FGFR2fibroblast growth factor receptor 2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| FGFR3fibroblast growth factor receptor 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| FOXH1forkhead box H1 | Manchmal (5–29 %) | In 4 Erkrankungen |
| FOXJ1forkhead box J1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GAS1growth arrest specific 1 | Manchmal (5–29 %) | In 4 Erkrankungen |
| GAS2L2growth arrest specific 2 like 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GATA1GATA binding protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GLI2GLI family zinc finger 2 | Manchmal (5–29 %) | In 4 Erkrankungen |
| GLI3GLI family zinc finger 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| GRB10growth factor receptor bound protein 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| HEATR3HEAT repeat containing 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| HSPG2heparan sulfate proteoglycan 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| HYDINHYDIN axonemal central pair apparatus protein | Manchmal (5–29 %) | In 1 Erkrankung |
| HYMAIhydatidiform mole associated and imprinted | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT172intraflagellar transport 172 | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT27intraflagellar transport 27 | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT74intraflagellar transport 74 | Manchmal (5–29 %) | In 1 Erkrankung |
| ITGA7integrin subunit alpha 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| KIAA0753KIAA0753 | Manchmal (5–29 %) | In 1 Erkrankung |
| KIF7kinesin family member 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| LRPPRCleucine rich pentatricopeptide repeat containing | Manchmal (5–29 %) | In 1 Erkrankung |
| LRRC56leucine rich repeat containing 56 | Manchmal (5–29 %) | In 1 Erkrankung |
| LZTFL1leucine zipper transcription factor like 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Manchmal (5–29 %) | In 1 Erkrankung |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Manchmal (5–29 %) | In 1 Erkrankung |
| MED13Lmediator complex subunit 13L | Manchmal (5–29 %) | In 1 Erkrankung |
| MEG3maternally expressed 3 | Manchmal (5–29 %) | In 2 Erkrankungen |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| MID1midline 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MKKSMKKS centrosomal shuttling protein | Manchmal (5–29 %) | In 1 Erkrankung |
| MKS1MKS transition zone complex subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MMACHCmetabolism of cobalamin associated C | Manchmal (5–29 %) | In 1 Erkrankung |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Manchmal (5–29 %) | In 1 Erkrankung |
| MYL2myosin light chain 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| NEK10NIMA related kinase 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| NEU1neuraminidase 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| NIPA1NIPA magnesium transporter 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NIPA2NIPA magnesium transporter 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| NME5NME/NM23 family member 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| NME8NME/NM23 family member 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| NODALnodal growth differentiation factor | Manchmal (5–29 %) | In 4 Erkrankungen |
| NPHP1nephrocystin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Manchmal (5–29 %) | In 1 Erkrankung |
| ODAD1outer dynein arm docking complex subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ODAD2outer dynein arm docking complex subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ODAD3outer dynein arm docking complex subunit 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| ODAD4outer dynein arm docking complex subunit 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| OFD1OFD1 centriole and centriolar satellite protein | Manchmal (5–29 %) | In 3 Erkrankungen |
| PDE6Dphosphodiesterase 6D | Manchmal (5–29 %) | In 1 Erkrankung |
| PLAGL1PLAG1 like zinc finger 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| PLCH1phospholipase C eta 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| PORCNporcupine O-acyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Manchmal (5–29 %) | In 1 Erkrankung |
| PTCH1patched 1 | Manchmal (5–29 %) | In 4 Erkrankungen |
| PTENphosphatase and tensin homolog | Manchmal (5–29 %) | In 1 Erkrankung |
| PURApurine rich element binding protein A | Manchmal (5–29 %) | In 1 Erkrankung |
| ROR2ROR family WNT receptor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPGRretinitis pigmentosa GTPase regulator | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL11ribosomal protein L11 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL15ribosomal protein L15 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL18ribosomal protein L18 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL26ribosomal protein L26 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL27ribosomal protein L27 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL31ribosomal protein L31 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL35ribosomal protein L35 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL35Aribosomal protein L35a | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL5ribosomal protein L5 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL8ribosomal protein L8 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPL9ribosomal protein L9 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS10ribosomal protein S10 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS15Aribosomal protein S15a | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS17ribosomal protein S17 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS19ribosomal protein S19 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS20ribosomal protein S20 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS24ribosomal protein S24 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS26ribosomal protein S26 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS27ribosomal protein S27 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS28ribosomal protein S28 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS29ribosomal protein S29 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPS7ribosomal protein S7 | Manchmal (5–29 %) | In 1 Erkrankung |
| RSPH1radial spoke head component 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| RSPH3radial spoke head 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| RSPH4Aradial spoke head component 4A | Manchmal (5–29 %) | In 1 Erkrankung |
| RSPH9radial spoke head component 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| RTL1retrotransposon Gag like 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| SBDSSBDS ribosome maturation factor | Manchmal (5–29 %) | In 1 Erkrankung |
| SCAPERS-phase cyclin A associated protein in the ER | Manchmal (5–29 %) | In 1 Erkrankung |
| SCLT1sodium channel and clathrin linker 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SCYL2SCY1 like pseudokinase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Manchmal (5–29 %) | In 1 Erkrankung |
| SELENONselenoprotein N | Manchmal (5–29 %) | In 1 Erkrankung |
| SH2B1SH2B adaptor protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SHHsonic hedgehog signaling molecule | Manchmal (5–29 %) | In 4 Erkrankungen |
| SIN3ASIN3 transcription regulator family member A | Manchmal (5–29 %) | In 1 Erkrankung |
| SIX3SIX homeobox 3 | Manchmal (5–29 %) | In 4 Erkrankungen |
| SKIC2SKI2 subunit of superkiller complex | Manchmal (5–29 %) | In 1 Erkrankung |
| SKIC3SKI3 subunit of superkiller complex | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC35A2solute carrier family 35 member A2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC7A7solute carrier family 7 member 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| SMAD3SMAD family member 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| SMC1Astructural maintenance of chromosomes 1A | Manchmal (5–29 %) | In 1 Erkrankung |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Manchmal (5–29 %) | In 1 Erkrankung |
| SONSON DNA and RNA binding protein | Manchmal (5–29 %) | In 1 Erkrankung |
| SPAG1sperm associated antigen 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SPEF2sperm flagellar and cilia associated 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| STAG2STAG2 cohesin complex component | Manchmal (5–29 %) | In 2 Erkrankungen |
| STILSTIL centriolar assembly protein | Manchmal (5–29 %) | In 4 Erkrankungen |
| STK36serine/threonine kinase 36 | Manchmal (5–29 %) | In 1 Erkrankung |
| TCTN3tectonic family member 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| TGIF1TGFB induced factor homeobox 1 | Manchmal (5–29 %) | In 4 Erkrankungen |
| TMEM216transmembrane protein 216 | Manchmal (5–29 %) | In 1 Erkrankung |
| TMEM231transmembrane protein 231 | Manchmal (5–29 %) | In 1 Erkrankung |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Manchmal (5–29 %) | In 1 Erkrankung |
| TPM2tropomyosin 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| TPM3tropomyosin 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRIM32tripartite motif containing 32 | Manchmal (5–29 %) | In 1 Erkrankung |
| TSR2TSR2 ribosome maturation factor | Manchmal (5–29 %) | In 1 Erkrankung |
| TTC12tetratricopeptide repeat domain 12 | Manchmal (5–29 %) | In 1 Erkrankung |
| TTC8tetratricopeptide repeat domain 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| TUBG1tubulin gamma 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TWIST1twist family bHLH transcription factor 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| WDPCPWD repeat containing planar cell polarity effector | Manchmal (5–29 %) | In 1 Erkrankung |
| ZFP57ZFP57 zinc finger protein | Manchmal (5–29 %) | In 1 Erkrankung |
| ZIC2Zic family zinc finger 2 | Manchmal (5–29 %) | In 4 Erkrankungen |
| ZMYND10zinc finger MYND-type containing 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| ZNF462zinc finger protein 462 | Manchmal (5–29 %) | In 1 Erkrankung |
| ATN1atrophin 1 | Selten (1–4 %) | In 1 Erkrankung |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Selten (1–4 %) | In 1 Erkrankung |
| GATA3GATA binding protein 3 | Selten (1–4 %) | In 1 Erkrankung |
| LEMD3LEM domain containing 3 | Selten (1–4 %) | In 1 Erkrankung |
| PBX1PBX homeobox 1 | Selten (1–4 %) | In 1 Erkrankung |
| POGZpogo transposable element derived with ZNF domain | Selten (1–4 %) | In 1 Erkrankung |
| RLIMring finger protein, LIM domain interacting | Selten (1–4 %) | In 1 Erkrankung |
| FANCAFA complementation group A | Nicht erfasst | In 1 Erkrankung |
| FANCD2FA complementation group D2 | Nicht erfasst | In 1 Erkrankung |
| FANCEFA complementation group E | Nicht erfasst | In 1 Erkrankung |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nicht erfasst | In 1 Erkrankung |
| MED12mediator complex subunit 12 | Nicht erfasst | In 1 Erkrankung |
| PEX5peroxisomal biogenesis factor 5 | Nicht erfasst | In 1 Erkrankung |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nicht erfasst | In 1 Erkrankung |
| PLECplectin | Nicht erfasst | In 1 Erkrankung |
| RAD51CRAD51 paralog C | Nicht erfasst | In 1 Erkrankung |
| RECQL4RecQ like helicase 4 | Nicht erfasst | In 1 Erkrankung |
| SOX9SRY-box transcription factor 9 | Nicht erfasst | In 1 Erkrankung |
| TCOF1treacle ribosome biogenesis factor 1 | Nicht erfasst | In 1 Erkrankung |
| TMEM126Btransmembrane protein 126B | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Untergeordnete Merkmale
- Enlarged heart150 Gene
- Abnormal cardiac septum morphology105 Gene
- Abnormal heart valve morphology63 Gene
- Abnormal endocardium morphology33 Gene
- Abnormal myocardium morphology22 Gene
- Heart tumor4 Gene
- Underdeveloped cardiac ventricle3 Gene
- Congenital malformation of the left heart2 Gene
- 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
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.19-9814e911.
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