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Merkmal
Delayed bone maturation
Klinische Bezeichnung: Delayed skeletal maturation
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Zusammenfassung
- Auch genannt
- Delayed skeletal development, Delayed bone age, Delayed bone age before puberty
- Körpersystem
- Abnormality of the musculoskeletal system
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page$trait$nameDelayed bone maturationHP:0002750
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Lesen Sie die Gene aus, die mit Delayed bone maturation zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
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Meinen Genome Test bestellen167 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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Show 163 more reports
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- Non-Acquired Combined Pituitary Hormone DeficiencyReads 12 of these genesGLI2RNPC3RBM28FOXA2HESX1LHX4About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 9 of these genesCYP11A1NR5A1DHX37GATA4MAP3K1SRYAbout this report →
- Female InfertilityReads 15 of these genesCYP19A1MCM9BMP15BNC1FIGLAFMR1About this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 5 of these genesGHRIGF1GHSRIGF1RSTAT5BAbout this report →
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- 46,XX Differences of Sex DevelopmentReads 3 of these genesNR5A1SOX3SRYAbout this report →
- Cantú SyndromeReads 2 of these genesABCC9KCNJ8About this report →
- Shwachman-Diamond SyndromeReads 2 of these genesEFL1SBDSAbout this report →
- Congenital HypothyroidismReads 6 of these genesFOXE1SECISBP2TRHRTSHBPAX8THRAAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 6 of these genesPAN2TBCKQRICH1ANKRD17TRAF7ZFXAbout this report →
- DNA Repair DiseaseReads 8 of these genesDDB2ERCC2ERCC3ERCC4ERCC5GTF2H5About this report →
- Immuno-Osseous DysplasiasReads 2 of these genesRNU4ATACRMRPAbout this report →
- Rothmund-Thomson SyndromeReads 2 of these genesANAPC1RECQL4About this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 2 of these genesSECISBP2THRBAbout this report →
- Thyroid CancerReads 6 of these genesSECISBP2THRBTRHRTSHBPAX8THRAAbout this report →
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- NeurofibromatosisReads 2 of these genesSMARCB1LZTR1About this report →
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- ACAN-Related Short StatureReads 1 of these genesACANAbout this report →
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- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
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- FAM111A-Related Skeletal DysplasiaReads 1 of these genesFAM111AAbout this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- FOXP2-Related Speech and Language DisorderReads 1 of these genesFOXP2About this report →
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- GAPO SyndromeReads 1 of these genesANTXR1About this report →
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- H SyndromeReads 1 of these genesSLC29A3About this report →
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- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
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- GlaucomaReads 1 of these genesLTBP2About this report →
- Hepatic Porphyria DisordersReads 1 of these genesPPOXAbout this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesENPP1About this report →
- Malignant Endocrine NeoplasmReads 1 of these genesTP53About this report →
- Osteogenesis ImperfectaReads 2 of these genesNBASMBTPS2About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesLPIN2POLA1About this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesTRPV4AARS1AIFM1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 2 of these genesMBTPS2GJA1About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesAARS1PEX1PEX6About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL2A1About this report →
- Kidney CancerReads 1 of these genesTP53About this report →
- PorphyriaReads 1 of these genesPPOXAbout this report →
- Long QT SyndromeReads 1 of these genesKCNJ2About this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Meckel SyndromeReads 1 of these genesTMEM67About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 1 of these genesSTAT1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesDCAF17About this report →
- Hearing Loss and DeafnessReads 3 of these genesKARS1POU3F4AIFM1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Severe Congenital NeutropeniaReads 1 of these genesSRP54About this report →
- Type I InterferonopathiesReads 1 of these genesPOLA1About this report →
- Urea Cycle DisorderReads 1 of these genesSLC7A7About this report →
- Urinary and Renal System TumourReads 1 of these genesTP53About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesABCD4About this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 1 of these genesLSSAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesCCBE1About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesPNPLA6ALDH18A1About this report →
- Amelogenesis ImperfectaReads 1 of these genesITGB6About this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesABCD4About this report →
- Neonatal Diabetes MellitusReads 1 of these genesGATA4About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesTMEM67About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesAIFM1About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesNMNAT1About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesLSSAbout this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesDCAF17About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesTMEM67About this report →
- Leigh SyndromeReads 1 of these genesAIFM1About this report →
Lesen Sie die Gene aus, die mit Delayed bone maturation zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen367 Gene mit Delayed bone maturation verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Delayed bone maturation 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 |
|---|---|---|
| ANKRD11ankyrin repeat domain 11 | Immer | In 2 Erkrankungen |
| BMPR1Bbone morphogenetic protein receptor type 1B | Immer | In 1 Erkrankung |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Immer | In 3 Erkrankungen |
| BRD4bromodomain containing 4 | Immer | In 2 Erkrankungen |
| BTKBruton tyrosine kinase | Immer | In 1 Erkrankung |
| CDC6cell division cycle 6 | Immer | In 2 Erkrankungen |
| CEP57centrosomal protein 57 | Immer | In 1 Erkrankung |
| CILK1ciliogenesis associated kinase 1 | Immer | In 1 Erkrankung |
| COX4I1cytochrome c oxidase subunit 4I1 | Immer | In 1 Erkrankung |
| CUL7cullin 7 | Immer | In 2 Erkrankungen |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Immer | In 2 Erkrankungen |
| DNA2DNA replication helicase/nuclease 2 | Immer | In 2 Erkrankungen |
| DONSONDNA replication fork stabilization factor DONSON | Immer | In 2 Erkrankungen |
| ERI1exoribonuclease 1 | Immer | In 1 Erkrankung |
| ESR1estrogen receptor 1 | Immer | In 1 Erkrankung |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Immer | In 1 Erkrankung |
| FBN1fibrillin 1 | Immer | In 6 Erkrankungen |
| FOXE1forkhead box E1 | Immer | In 1 Erkrankung |
| GET4guided entry of tail-anchored proteins factor 4 | Immer | In 1 Erkrankung |
| GHRgrowth hormone receptor | Immer | In 3 Erkrankungen |
| GLI2GLI family zinc finger 2 | Immer | In 2 Erkrankungen |
| GMNNgeminin DNA replication inhibitor | Immer | In 2 Erkrankungen |
| HMGA2high mobility group AT-hook 2 | Immer | In 1 Erkrankung |
| IGF1insulin like growth factor 1 | Immer | In 2 Erkrankungen |
| ITCHitchy E3 ubiquitin protein ligase | Immer | In 1 Erkrankung |
| KARS1lysyl-tRNA synthetase 1 | Immer | In 1 Erkrankung |
| LPIN2lipin 2 | Immer | In 1 Erkrankung |
| MALT1MALT1 paracaspase | Immer | In 1 Erkrankung |
| MCM9minichromosome maintenance 9 homologous recombination repair factor | Immer | In 1 Erkrankung |
| MSMO1methylsterol monooxygenase 1 | Immer | In 1 Erkrankung |
| NINninein | Immer | In 3 Erkrankungen |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Immer | In 1 Erkrankung |
| OBSL1obscurin like cytoskeletal adaptor 1 | Immer | In 2 Erkrankungen |
| ORC1origin recognition complex subunit 1 | Immer | In 2 Erkrankungen |
| ORC4origin recognition complex subunit 4 | Immer | In 2 Erkrankungen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Immer | In 1 Erkrankung |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Immer | In 2 Erkrankungen |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Immer | In 1 Erkrankung |
| PNPLA6patatin like domain 6, lysophospholipase | Immer | In 2 Erkrankungen |
| PPOXprotoporphyrinogen oxidase | Immer | In 1 Erkrankung |
327 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Immer | In 2 Erkrankungen |
| PRKG2protein kinase cGMP-dependent 2 | Immer | In 1 Erkrankung |
| PTDSS1phosphatidylserine synthase 1 | Immer | In 2 Erkrankungen |
| RBSNrabenosyn, RAB effector | Immer | In 2 Erkrankungen |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Immer | In 1 Erkrankung |
| RSPRY1ring finger and SPRY domain containing 1 | Immer | In 2 Erkrankungen |
| SLC30A7solute carrier family 30 member 7 | Immer | In 1 Erkrankung |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Immer | In 2 Erkrankungen |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Immer | In 2 Erkrankungen |
| SPIDRscaffold protein involved in DNA repair | Immer | In 2 Erkrankungen |
| SPRTNSprT-like N-terminal domain | Immer | In 1 Erkrankung |
| TAF13TATA-box binding protein associated factor 13 | Immer | In 1 Erkrankung |
| TAF4TATA-box binding protein associated factor 4 | Immer | In 1 Erkrankung |
| TBCKTBC1 domain containing kinase | Immer | In 2 Erkrankungen |
| TMEM67transmembrane protein 67 | Immer | In 2 Erkrankungen |
| UFSP2UFM1 specific peptidase 2 | Immer | In 1 Erkrankung |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Immer | In 1 Erkrankung |
| ADAMTSL2ADAMTS like 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| AHSGalpha 2-HS glycoprotein | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ANTXR1ANTXR cell adhesion molecule 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ATRATR checkpoint kinase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ATRIPATR interacting protein | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CDC45cell division cycle 45 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CDT1chromatin licensing and DNA replication factor 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CENPEcentromere protein E | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CEP152centrosomal protein 152 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CEP295centrosomal protein 295 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CEP63centrosomal protein 63 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CHD7chromodomain helicase DNA binding protein 7 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| COL2A1collagen type II alpha 1 chain | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| CPAPcentrosome assembly and centriole elongation protein | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CYB5Acytochrome b5 type A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| DCAF17DDB1 and CUL4 associated factor 17 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| DUSP6dual specificity phosphatase 6 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| EMX2empty spiracles homeobox 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| EXT1exostosin glycosyltransferase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FGF17fibroblast growth factor 17 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| FGF8fibroblast growth factor 8 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| FGFR1fibroblast growth factor receptor 1 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| FSHBfollicle stimulating hormone subunit beta | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| GBA1glucosylceramidase beta 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| GHSRgrowth hormone secretagogue receptor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| GNRH1gonadotropin releasing hormone 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GNRHRgonadotropin releasing hormone receptor | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GPX4glutathione peroxidase 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GRB10growth factor receptor bound protein 10 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| H19H19 imprinted maternally expressed transcript | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| HDAC8histone deacetylase 8 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HRASHRas proto-oncogene, GTPase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| IGF1Rinsulin like growth factor 1 receptor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| IGF2insulin like growth factor 2 | Sehr häufig (80–99 %) | In 4 Erkrankungen |
| IHHIndian hedgehog signaling molecule | Sehr häufig (80–99 %) | In 1 Erkrankung |
| INPPL1inositol polyphosphate phosphatase like 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ITGB6integrin subunit beta 6 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| KISS1KiSS-1 metastasis suppressor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| KISS1RKISS1 receptor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| LONP1lon peptidase 1, mitochondrial | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| LSSlanosterol synthase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MAU2MAU2 sister chromatid cohesion factor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MECP2methyl-CpG binding protein 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MMP13matrix metallopeptidase 13 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MVKmevalonate kinase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NEU1neuraminidase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NHLH2nescient helix-loop-helix 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NIPBLNIPBL cohesin loading factor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NUP85nucleoporin 85 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ORC6origin recognition complex subunit 6 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PCNTpericentrin | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| PLK4polo like kinase 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| POLA1DNA polymerase alpha 1, catalytic subunit | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PROK2prokineticin 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PROKR2prokineticin receptor 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| RAD21RAD21 cohesin complex component | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| RBBP8RB binding protein 8, endonuclease | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RNU12RNA, U12 small nuclear | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RNU4ATACRNA, U4atac small nuclear | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| RPS6KA3ribosomal protein S6 kinase A3 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SCARB2scavenger receptor class B member 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SMC1Astructural maintenance of chromosomes 1A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SMC3structural maintenance of chromosomes 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SPRY4sprouty RTK signaling antagonist 4 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SRCAPSnf2 related CREBBP activator protein | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| STAT1signal transducer and activator of transcription 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TAC3tachykinin precursor 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TACR3tachykinin receptor 3 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TBC1D7TBC1 domain family member 7 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TBCEtubulin folding cofactor E | Sehr häufig (80–99 %) | In 4 Erkrankungen |
| TRAIPTRAF interacting protein | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TRPS1transcriptional repressor GATA binding 1 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| WDR11WD repeat domain 11 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| ABCC9ATP binding cassette subfamily C member 9 | Häufig (30–79 %) | In 2 Erkrankungen |
| ABCD4ATP binding cassette subfamily D member 4 | Häufig (30–79 %) | In 1 Erkrankung |
| ARID1AAT-rich interaction domain 1A | Häufig (30–79 %) | In 2 Erkrankungen |
| ARID1BAT-rich interaction domain 1B | Häufig (30–79 %) | In 2 Erkrankungen |
| ARID2AT-rich interaction domain 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| BMP15bone morphogenetic protein 15 | Häufig (30–79 %) | In 1 Erkrankung |
| BNC1basonuclin zinc finger protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| BRF1BRF1 general transcription factor IIIB subunit | Häufig (30–79 %) | In 2 Erkrankungen |
| CBLCbl proto-oncogene | Häufig (30–79 %) | In 1 Erkrankung |
| CDK4cyclin dependent kinase 4 | Häufig (30–79 %) | In 1 Erkrankung |
| CHP1calcineurin like EF-hand protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| CKAP2Lcytoskeleton associated protein 2L | Häufig (30–79 %) | In 1 Erkrankung |
| COX4I2cytochrome c oxidase subunit 4I2 | Häufig (30–79 %) | In 1 Erkrankung |
| CPLX1complexin 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| CREBBPCREB binding lysine acetyltransferase | Häufig (30–79 %) | In 2 Erkrankungen |
| CTBP1C-terminal binding protein 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| DCCDCC netrin 1 receptor | Häufig (30–79 %) | In 2 Erkrankungen |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Häufig (30–79 %) | In 2 Erkrankungen |
| DPF2double PHD fingers 2 | Häufig (30–79 %) | In 1 Erkrankung |
| EFL1elongation factor like GTPase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| FAM111AFAM111 trypsin like peptidase A | Häufig (30–79 %) | In 1 Erkrankung |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Häufig (30–79 %) | In 1 Erkrankung |
| FIGLAfolliculogenesis specific bHLH transcription factor | Häufig (30–79 %) | In 1 Erkrankung |
| FMR1fragile X messenger ribonucleoprotein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| FSHRfollicle stimulating hormone receptor | Häufig (30–79 %) | In 1 Erkrankung |
| GDF5growth differentiation factor 5 | Häufig (30–79 %) | In 2 Erkrankungen |
| GINS3GINS complex subunit 3 | Häufig (30–79 %) | In 1 Erkrankung |
| GTF2E2general transcription factor IIE subunit 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Häufig (30–79 %) | In 1 Erkrankung |
| KMT2Alysine methyltransferase 2A | Häufig (30–79 %) | In 2 Erkrankungen |
| KRASKRas proto-oncogene, GTPase | Häufig (30–79 %) | In 3 Erkrankungen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| LTBP3latent transforming growth factor beta binding protein 3 | Häufig (30–79 %) | In 4 Erkrankungen |
| LZTR1leucine zipper like post translational regulator 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Häufig (30–79 %) | In 1 Erkrankung |
| MRASmuscle RAS oncogene homolog | Häufig (30–79 %) | In 1 Erkrankung |
| MRPS22mitochondrial ribosomal protein S22 | Häufig (30–79 %) | In 2 Erkrankungen |
| MSH4mutS homolog 4 | Häufig (30–79 %) | In 1 Erkrankung |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| NBASNBAS subunit of NRZ tethering complex | Häufig (30–79 %) | In 1 Erkrankung |
| NELFAnegative elongation factor complex member A | Häufig (30–79 %) | In 1 Erkrankung |
| NFE2L2NFE2 like bZIP transcription factor 2 | Häufig (30–79 %) | In 1 Erkrankung |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| NRASNRAS proto-oncogene, GTPase | Häufig (30–79 %) | In 1 Erkrankung |
| NSD1nuclear receptor binding SET domain protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| NSD2nuclear receptor binding SET domain protein 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| NUP107nucleoporin 107 | Häufig (30–79 %) | In 1 Erkrankung |
| PDGFRBplatelet derived growth factor receptor beta | Häufig (30–79 %) | In 1 Erkrankung |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Häufig (30–79 %) | In 1 Erkrankung |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Häufig (30–79 %) | In 2 Erkrankungen |
| POLR3HRNA polymerase III subunit H | Häufig (30–79 %) | In 1 Erkrankung |
| POU3F4POU class 3 homeobox 4 | Häufig (30–79 %) | In 1 Erkrankung |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Häufig (30–79 %) | In 1 Erkrankung |
| PSMC3IPPSMC3 interacting protein | Häufig (30–79 %) | In 1 Erkrankung |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Häufig (30–79 %) | In 1 Erkrankung |
| QRICH1glutamine rich 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Häufig (30–79 %) | In 1 Erkrankung |
| RASA2RAS p21 protein activator 2 | Häufig (30–79 %) | In 1 Erkrankung |
| RBM28RNA binding motif protein 28 | Häufig (30–79 %) | In 1 Erkrankung |
| RIT1Ras like without CAAX 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RNF13ring finger protein 13 | Häufig (30–79 %) | In 2 Erkrankungen |
| ROBO3roundabout guidance receptor 3 | Häufig (30–79 %) | In 1 Erkrankung |
| RRASRAS related | Häufig (30–79 %) | In 1 Erkrankung |
| RRAS2RAS related 2 | Häufig (30–79 %) | In 1 Erkrankung |
| SBDSSBDS ribosome maturation factor | Häufig (30–79 %) | In 2 Erkrankungen |
| SECISBP2SECIS binding protein 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| SLC7A7solute carrier family 7 member 7 | Häufig (30–79 %) | In 2 Erkrankungen |
| SMAD4SMAD family member 4 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Häufig (30–79 %) | In 3 Erkrankungen |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | 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 |
| SMPD1sphingomyelin phosphodiesterase 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | 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 |
| SPRED2sprouty related EVH1 domain containing 2 | Häufig (30–79 %) | In 1 Erkrankung |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Häufig (30–79 %) | In 1 Erkrankung |
| THRBthyroid hormone receptor beta | Häufig (30–79 %) | In 1 Erkrankung |
| TP53tumor protein p53 | Häufig (30–79 %) | In 1 Erkrankung |
| TRHRthyrotropin releasing hormone receptor | Häufig (30–79 %) | In 2 Erkrankungen |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Häufig (30–79 %) | In 2 Erkrankungen |
| TSHBthyroid stimulating hormone subunit beta | Häufig (30–79 %) | In 1 Erkrankung |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| ZSWIM7zinc finger SWIM-type containing 7 | Häufig (30–79 %) | In 1 Erkrankung |
| AARS1alanyl-tRNA synthetase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Manchmal (5–29 %) | In 1 Erkrankung |
| AGAaspartylglucosaminidase | Manchmal (5–29 %) | In 2 Erkrankungen |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| ANAPC1anaphase promoting complex subunit 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| ANKRD17ankyrin repeat domain 17 | Manchmal (5–29 %) | In 1 Erkrankung |
| ANOS1anosmin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Manchmal (5–29 %) | In 1 Erkrankung |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Manchmal (5–29 %) | In 1 Erkrankung |
| CARS1cysteinyl-tRNA synthetase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CCDC141coiled-coil domain containing 141 | Manchmal (5–29 %) | In 1 Erkrankung |
| CHST3carbohydrate sulfotransferase 3 | Manchmal (5–29 %) | In 2 Erkrankungen |
| CLIP2CAP-Gly domain containing linker protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| DBR1debranching RNA lariats 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DDB2damage specific DNA binding protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| DHX37DEAH-box helicase 37 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Manchmal (5–29 %) | In 1 Erkrankung |
| DPP6dipeptidyl peptidase like 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| EIF4Heukaryotic translation initiation factor 4H | Manchmal (5–29 %) | In 1 Erkrankung |
| ELNelastin | Manchmal (5–29 %) | In 1 Erkrankung |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Manchmal (5–29 %) | In 2 Erkrankungen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Manchmal (5–29 %) | In 2 Erkrankungen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| ERCC5ERCC excision repair 5, endonuclease | Manchmal (5–29 %) | In 1 Erkrankung |
| EVCEvC ciliary complex subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| EVC2EvC ciliary complex subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| EXTL3exostosin like glycosyltransferase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| FBXO11F-box protein 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| FEZF1FEZ family zinc finger 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Manchmal (5–29 %) | In 1 Erkrankung |
| FLNBfilamin B | Manchmal (5–29 %) | In 2 Erkrankungen |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| FOXA2forkhead box A2 | Manchmal (5–29 %) | In 1 Erkrankung |
| FOXP2forkhead box P2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GATA4GATA binding protein 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| GLI1GLI family zinc finger 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2H5general transcription factor IIH subunit 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2Igeneral transcription factor IIi | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2IRD1GTF2I repeat domain containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2IRD2GTF2I repeat domain containing 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| HESX1HESX homeobox 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| HSPG2heparan sulfate proteoglycan 2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| IL17RDinterleukin 17 receptor D | Manchmal (5–29 %) | In 1 Erkrankung |
| INSRinsulin receptor | Manchmal (5–29 %) | In 2 Erkrankungen |
| KIF15kinesin family member 15 | Manchmal (5–29 %) | In 1 Erkrankung |
| LHX4LIM homeobox 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| LIMK1LIM domain kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| LTBP2latent transforming growth factor beta binding protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MADDMAP kinase activating death domain | Manchmal (5–29 %) | In 1 Erkrankung |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| METTL27methyltransferase like 27 | Manchmal (5–29 %) | In 1 Erkrankung |
| MPLKIPM-phase specific PLK1 interacting protein | Manchmal (5–29 %) | In 1 Erkrankung |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MYH3myosin heavy chain 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| NCF1neutrophil cytosolic factor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NDNFneuron derived neurotrophic factor | Manchmal (5–29 %) | In 1 Erkrankung |
| NGLY1N-glycanase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NPR2natriuretic peptide receptor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| OTX2orthodenticle homeobox 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| PEX1peroxisomal biogenesis factor 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| PEX6peroxisomal biogenesis factor 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| POMCproopiomelanocortin | Manchmal (5–29 %) | In 1 Erkrankung |
| POU1F1POU class 1 homeobox 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Manchmal (5–29 %) | In 1 Erkrankung |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Manchmal (5–29 %) | In 1 Erkrankung |
| PROP1PROP paired-like homeobox 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| PTENphosphatase and tensin homolog | Manchmal (5–29 %) | In 1 Erkrankung |
| RECQL4RecQ like helicase 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| RFC2replication factor C subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Manchmal (5–29 %) | In 1 Erkrankung |
| RNF113Aring finger protein 113A | Manchmal (5–29 %) | In 1 Erkrankung |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Manchmal (5–29 %) | In 1 Erkrankung |
| SEMA3Asemaphorin 3A | Manchmal (5–29 %) | In 1 Erkrankung |
| SIN3ASIN3 transcription regulator family member A | Manchmal (5–29 %) | In 2 Erkrankungen |
| SIN3BSIN3 transcription regulator family member B | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC29A3solute carrier family 29 member 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| SOX10SRY-box transcription factor 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| SOX3SRY-box transcription factor 3 | Manchmal (5–29 %) | In 2 Erkrankungen |
| SOX9SRY-box transcription factor 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| SRYsex determining region Y | Manchmal (5–29 %) | In 2 Erkrankungen |
| STX1Asyntaxin 1A | Manchmal (5–29 %) | In 1 Erkrankung |
| TARS1threonyl-tRNA synthetase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TBL2transducin beta like 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| TMEM270transmembrane protein 270 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRAF7TNF receptor associated factor 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| VAMP7vesicle associated membrane protein 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| VPS37DVPS37D subunit of ESCRT-I | Manchmal (5–29 %) | In 1 Erkrankung |
| WT1WT1 transcription factor | Manchmal (5–29 %) | In 1 Erkrankung |
| WWOXWW domain containing oxidoreductase | Manchmal (5–29 %) | In 1 Erkrankung |
| XPAXPA, DNA damage recognition and repair factor | Manchmal (5–29 %) | In 1 Erkrankung |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Manchmal (5–29 %) | In 1 Erkrankung |
| ZEB2zinc finger E-box binding homeobox 2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| ZFPM2zinc finger protein, FOG family member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ZFXzinc finger protein X-linked | Manchmal (5–29 %) | In 1 Erkrankung |
| ZNF699zinc finger protein 699 | Manchmal (5–29 %) | In 1 Erkrankung |
| ACVR1activin A receptor type 1 | Selten (1–4 %) | In 1 Erkrankung |
| CTNScystinosin, lysosomal cystine transporter | Selten (1–4 %) | In 2 Erkrankungen |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Selten (1–4 %) | In 1 Erkrankung |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Selten (1–4 %) | In 1 Erkrankung |
| ACANaggrecan | Nicht erfasst | In 1 Erkrankung |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Nicht erfasst | In 1 Erkrankung |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nicht erfasst | In 2 Erkrankungen |
| ATRXATRX chromatin remodeler | Nicht erfasst | In 1 Erkrankung |
| BMP2bone morphogenetic protein 2 | Nicht erfasst | In 1 Erkrankung |
| CCBE1collagen and calcium binding EGF domains 1 | Nicht erfasst | In 1 Erkrankung |
| CD96CD96 molecule | Nicht erfasst | In 1 Erkrankung |
| DVL1dishevelled segment polarity protein 1 | Nicht erfasst | In 1 Erkrankung |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Nicht erfasst | In 1 Erkrankung |
| EP300EP300 lysine acetyltransferase | Nicht erfasst | In 1 Erkrankung |
| FGFRL1fibroblast growth factor receptor like 1 | Nicht erfasst | In 1 Erkrankung |
| GH1growth hormone 1 | Nicht erfasst | In 2 Erkrankungen |
| GHRHRgrowth hormone releasing hormone receptor | Nicht erfasst | In 1 Erkrankung |
| GJA1gap junction protein alpha 1 | Nicht erfasst | In 1 Erkrankung |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Nicht erfasst | In 1 Erkrankung |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nicht erfasst | In 1 Erkrankung |
| IFT57intraflagellar transport 57 | Nicht erfasst | In 1 Erkrankung |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Nicht erfasst | In 1 Erkrankung |
| LGR4leucine rich repeat containing G protein-coupled receptor 4 | Nicht erfasst | In 1 Erkrankung |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nicht erfasst | In 1 Erkrankung |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nicht erfasst | In 1 Erkrankung |
| PAM16presequence translocase associated motor 16 | Nicht erfasst | In 1 Erkrankung |
| PAX8paired box 8 | Nicht erfasst | In 1 Erkrankung |
| PCGF2polycomb group ring finger 2 | Nicht erfasst | In 1 Erkrankung |
| POP1POP1 ribonuclease P/MRP subunit | Nicht erfasst | In 1 Erkrankung |
| ROR2ROR family WNT receptor 2 | Nicht erfasst | In 1 Erkrankung |
| SLC25A24solute carrier family 25 member 24 | Nicht erfasst | In 1 Erkrankung |
| SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1 | Nicht erfasst | In 1 Erkrankung |
| SRP54signal recognition particle 54 | Nicht erfasst | In 1 Erkrankung |
| STAT5Bsignal transducer and activator of transcription 5B | Nicht erfasst | In 1 Erkrankung |
| THRAthyroid hormone receptor alpha | Nicht erfasst | In 1 Erkrankung |
| TONSLtonsoku like, DNA repair protein | Nicht erfasst | In 1 Erkrankung |
| WNT5AWnt family member 5A | 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
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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