AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Permanent flexion of the finger or toe
Kliiniline nimetus: Camptodactyly
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Kokkuvõte
- Kehasüsteem
- Abnormality of the musculoskeletal system
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/camptodactyly.json"
page <- fromJSON(url)
page$trait$namePermanent flexion of the finger or toeHP:0012385
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Permanent flexion of the finger or toe-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test94 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.
- Marfan Like SyndromesReads 7 of these genesFBN1FBN2SKITGFBR1TGFBR2SMAD3About this report →
- Hypogonadotropic HypogonadismReads 14 of these genesMAGEL2CHD7FGF17FGF8FGFR1GNRH1About this report →
- Syndromic CraniosynostosisReads 7 of these genesFGFR3MEGF8SKIFGFR1PORFGFR2About this report →
- Intellectual DisabilityReads 19 of these genesNKAPRPL10CDK13H1-4MED13LWDR11About this report →
Show 90 more reports
- Loeys-Dietz SyndromeReads 3 of these genesTGFBR1TGFBR2SMAD3About this report →
- Congenital Disorders of GlycosylationReads 10 of these genesPIGAALG8COG1ALG12COG8DPAGT1About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Alkuraya-Kucinskas SyndromeReads 1 of these genesBLTP1About this report →
- Bailey-Bloch Congenital MyopathyReads 1 of these genesSTAC3About this report →
- Basilicata-Akhtar SyndromeReads 1 of these genesMSL3About 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 →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- DPH1-Related Developmental Delay with Short StatureReads 1 of these genesDPH1About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Frank-Ter Haar SyndromeReads 1 of these genesSH3PXD2BAbout this report →
- FrontorhinyReads 1 of these genesALX3About this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- Lethal Congenital Contracture Syndrome 11 (GLDN)Reads 1 of these genesGLDNAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Progressive Pseudorheumatoid DysplasiaReads 1 of these genesCCN6About this report →
- Sandestig-Stefanova SyndromeReads 1 of these genesNUP188About this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Stüve-Wiedemann SyndromeReads 1 of these genesLIFRAbout this report →
- Ehlers-Danlos SyndromeReads 4 of these genesPRDM5ZNF469COL3A1DSEAbout this report →
- Aortic AneurysmReads 3 of these genesFBN1TGFBR1TGFBR2About this report →
- Cornelia de Lange SyndromeReads 2 of these genesSMC1ANIPBLAbout this report →
- Congenital Cranial Dysinnervation DisordersReads 2 of these genesCHN1MAFBAbout this report →
- Cutis LaxaReads 3 of these genesATP6V1AATP6V1E1GORABAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 2 of these genesPEX2PEX5About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 3 of these genesKRT1KRT16KRT9About this report →
- Epilepsy (Full Panel)Reads 7 of these genesATP6V1AFLNAPIGASMC1AGLULARXAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 2 of these genesFAT4CCBE1About this report →
- Achondrogenesis panelReads 1 of these genesSLC26A2About this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesEZH2About this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesALG8About this report →
- GPI Anchor Biosynthesis DefectsReads 2 of these genesPIGAPIGLAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesKLHL7CRLF1About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesRAB3GAP1ARXAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Congenital Myasthenic SyndromeReads 2 of these genesMYO9ADPAGT1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesRAB3GAP1BCORAbout this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Hyper-IgE SyndromeReads 1 of these genesIL6STAbout this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPHGDHAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesSLC26A2About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesMAGEL2About this report →
- Kidney CancerReads 1 of these genesMETAbout this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesB9D2TCTN3About this report →
- Rare Hereditary Peripheral NeuropathiesReads 5 of these genesKLHL7LMNACRLF1PEX2PEX5About this report →
- Long QT SyndromeReads 1 of these genesCACNA1CAbout this report →
- Meckel SyndromeReads 1 of these genesB9D2About this report →
- Inherited Neurodegenerative DisordersReads 6 of these genesNALCNSNX14FLVCR1PEX2PEX5SPARTAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG8About this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- Urinary and Renal System TumourReads 1 of these genesMETAbout this report →
- Dilated CardiomyopathyReads 2 of these genesFHL1LMNAAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- OsteopetrosisReads 1 of these genesAMER1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesSNX14FLVCR1About this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 1 of these genesCDH3About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- Other Inherited LeukodystrophiesReads 2 of these genesPEX2PEX5About this report →
- Retinitis PigmentosaReads 2 of these genesKLHL7FLVCR1About this report →
- Congenital MyopathiesReads 1 of these genesTPM2About this report →
- Autoimmune DiseaseReads 1 of these genesCHRNGAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesMAFAbout this report →
- Inherited IchthyosesReads 1 of these genesKRT1About this report →
- Hearing Loss and DeafnessReads 2 of these genesMETCOL11A1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesZIC2About this report →
- VitreoretinopathyReads 1 of these genesCOL11A1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesCDC42About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesLMNAAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesGORABAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesTOR1AAbout this report →
- DNA Repair DiseaseReads 1 of these genesERCC6About this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGNPTABAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesALPK3About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSPARTAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesLMNAAbout this report →
- Other Inborn Errors of ImmunityReads 1 of these genesIL6STAbout this report →
Lugege välja geenid, mis on seotud Permanent flexion of the finger or toe-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test187 geeni on seotud tunnusega Permanent flexion of the finger or toe
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Permanent flexion of the finger or toe. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ATP6V1AATPase H+ transporting V1 subunit A | Alati | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alati | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Alati | Esineb 1 haiguses |
| BHLHA9basic helix-loop-helix family member a9 | Alati | Esineb 1 haiguses |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alati | Esineb 1 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | Alati | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Alati | Esineb 2 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Alati | Esineb 1 haiguses |
| DCHS1dachsous cadherin-related 1 | Alati | Esineb 2 haiguses |
| DRG1developmentally regulated GTP binding protein 1 | Alati | Esineb 1 haiguses |
| EEDembryonic ectoderm development | Alati | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 2 haiguses |
| FHL1four and a half LIM domains 1 | Alati | Esineb 1 haiguses |
| FILIP1filamin A interacting protein 1 | Alati | Esineb 1 haiguses |
| FLNAfilamin A | Alati | Esineb 2 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Alati | Esineb 2 haiguses |
| KLHL7kelch like family member 7 | Alati | Esineb 1 haiguses |
| LBRlamin B receptor | Alati | Esineb 1 haiguses |
| LGI4leucine rich repeat LGI family member 4 | Alati | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Alati | Esineb 1 haiguses |
| LMNAlamin A/C | Alati | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| METMET proto-oncogene, receptor tyrosine kinase | Alati | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Alati | Esineb 3 haiguses |
| MYO9Amyosin IXA | Alati | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Alati | Esineb 2 haiguses |
| NUP188nucleoporin 188 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Alati | Esineb 1 haiguses |
| SCARF2scavenger receptor class F member 2 | Alati | Esineb 2 haiguses |
| SF3B4splicing factor 3b subunit 4 | Alati | Esineb 1 haiguses |
| SGSM3small G protein signaling modulator 3 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 1 haiguses |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alati | Esineb 1 haiguses |
| TBCBtubulin folding cofactor B | Alati | Esineb 1 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| TOR1Atorsin family 1 member A | Alati | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Alati | Esineb 1 haiguses |
Näita veel 147 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ZIC2Zic family zinc finger 2 | Alati | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC32coiled-coil domain containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| CCN6cellular communication network factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DPH1diphthamide biosynthesis 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DPH2diphthamide biosynthesis 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC5exosome component 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FBN2fibrillin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FIBPFGF1 intracellular binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Sageli (30–79%) | Esineb 1 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| IL6STinterleukin 6 cytokine family signal transducer | Sageli (30–79%) | Esineb 1 haiguses |
| KIF15kinesin family member 15 | Sageli (30–79%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 2 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Sageli (30–79%) | Esineb 1 haiguses |
| NEK9NIMA related kinase 9 | Sageli (30–79%) | Esineb 1 haiguses |
| NKAPNFKB activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| NUP88nucleoporin 88 | Sageli (30–79%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Sageli (30–79%) | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sageli (30–79%) | Esineb 2 haiguses |
| RPL10ribosomal protein L10 | Sageli (30–79%) | Esineb 1 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Sageli (30–79%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC29A3solute carrier family 29 member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALPK3alpha kinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARXaristaless related homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK13cyclin dependent kinase 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHN1chimerin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG8component of oligomeric golgi complex 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Mõnikord (5–29%) | Esineb 2 haiguses |
| DUSP6dual specificity phosphatase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMX2empty spiracles homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF17fibroblast growth factor 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GLDNgliomedin | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNRH1gonadotropin releasing hormone 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNRHRgonadotropin releasing hormone receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| H1-4H1.4 linker histone, cluster member | Mõnikord (5–29%) | Esineb 1 haiguses |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KISS1KiSS-1 metastasis suppressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| KISS1RKISS1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRT1keratin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRT16keratin 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRT9keratin 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMBRD2LMBR1 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MSL3MSL complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NHLH2nescient helix-loop-helix 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 3 haiguses |
| PRDM5PR/SET domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROK2prokineticin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROKR2prokineticin receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RIC1RIC1 partner of RAB6A GEF complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SALL4spalt like transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPRY4sprouty RTK signaling antagonist 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TAC3tachykinin precursor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TACR3tachykinin receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| THOC6THO complex subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNNC2troponin C2, fast skeletal type | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR11WD repeat domain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZNF469zinc finger protein 469 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| SMSspermine synthase | Harva (1–4%) | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | Harva (1–4%) | Esineb 1 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| ALX3ALX homeobox 3 | Pole registreeritud | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| ATAD1ATPase family AAA domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| BCORBCL6 corepressor | Pole registreeritud | Esineb 1 haiguses |
| BGNbiglycan | Pole registreeritud | Esineb 1 haiguses |
| BLTP1bridge-like lipid transfer protein family member 1 | Pole registreeritud | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Pole registreeritud | Esineb 1 haiguses |
| CDH3cadherin 3 | Pole registreeritud | Esineb 1 haiguses |
| CNTN1contactin 1 | Pole registreeritud | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| CRLF1cytokine receptor like factor 1 | Pole registreeritud | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Pole registreeritud | Esineb 1 haiguses |
| DYMdymeclin | Pole registreeritud | Esineb 1 haiguses |
| ECEL1endothelin converting enzyme like 1 | Pole registreeritud | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Pole registreeritud | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| GORABgolgin, RAB6 interacting | Pole registreeritud | Esineb 1 haiguses |
| HOXD13homeobox D13 | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| MYBPC1myosin binding protein C1 | Pole registreeritud | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| ORC1origin recognition complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| ORC4origin recognition complex subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| OSGEPO-sialoglycoprotein endopeptidase | Pole registreeritud | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Pole registreeritud | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Pole registreeritud | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Pole registreeritud | Esineb 1 haiguses |
| PQBP1polyglutamine binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Pole registreeritud | Esineb 1 haiguses |
| SPARTspartin | Pole registreeritud | Esineb 1 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Pole registreeritud | Esineb 1 haiguses |
| TBC1D32TBC1 domain family member 32 | Pole registreeritud | Esineb 1 haiguses |
| TBX15T-box transcription factor 15 | Pole registreeritud | Esineb 1 haiguses |
| TGDSTDP-glucose 4,6-dehydratase | Pole registreeritud | Esineb 1 haiguses |
| TNNT3troponin T3, fast skeletal type | Pole registreeritud | Esineb 1 haiguses |
| TP63tumor protein p63 | Pole registreeritud | Esineb 1 haiguses |
| WDR73WD repeat domain 73 | Pole registreeritud | Esineb 1 haiguses |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.19-9814e911.
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