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Trait
Curvature of digit
Nom clinique : Clinodactyly
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Résumé
- Aussi appelé
- Permanent curving of the finger
- Système corporel
- Abnormality of limbsAbnormality of the musculoskeletal system
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page$trait$nameCurvature of digitHP:0030084
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Découvrez les gènes liés à Curvature of digit, ainsi que le reste de votre génome, grâce à un seul test.
À partir de 449 $Livraison gratuite · Résultats sous 6 à 8 semaines
Obtenir mon Genome Test110 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.
- Coffin-Siris SyndromeReads 11 of these genesARID2SOX11ARID1AARID1BDPF2SMARCA4About this report →
- Intellectual DisabilityReads 27 of these genesKDM6BNAA10OGTPIGLAHDC1ARID1AAbout this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- GPI Anchor Biosynthesis DefectsReads 7 of these genesPIGLPGAP2PGAP3PIGOPIGVPIGWAbout this report →
Show 106 more reports
- Syndromic CraniosynostosisReads 7 of these genesFGFR1FGFR2FGFR3IL11RAPORIFT122About this report →
- Congenital Disorders of GlycosylationReads 12 of these genesCHSY1PIGLDPAGT1PGAP2PGAP3PIGOAbout this report →
- Monogenic Precocious PubertyReads 2 of these genesDLK1MKRN3About this report →
- Noonan SyndromeReads 5 of these genesMAPK1SPRED2BRAFMAP2K1PTPN11About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 3 of these genesCOL2A1XYLT1FN1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesNFIXEZH2About this report →
- Alkuraya-Kucinskas SyndromeReads 1 of these genesBLTP1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- FrontorhinyReads 1 of these genesALX3About this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- Hand-Foot-Genital SyndromeReads 1 of these genesHOXA13About this report →
- INTU-Related Skeletal CiliopathyReads 1 of these genesINTUAbout this report →
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- Lamb-Shaffer SyndromeReads 1 of these genesSOX5About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- NOG-Related Symphalangism Spectrum DisorderReads 1 of these genesNOGAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Otofaciocervical Syndrome Type 2 (PAX1)Reads 1 of these genesPAX1About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- Sandestig-Stefanova SyndromeReads 1 of these genesNUP188About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- TARP SyndromeReads 1 of these genesRBM10About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- Turnpenny-Fry SyndromeReads 1 of these genesPCGF2About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- Joubert Syndrome And Related DisordersReads 6 of these genesINPP5EKIF7OFD1CPLANE1MKS1TCTN3About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 2 of these genesCEP57SMC5About this report →
- Periventricular Nodular HeterotopiaReads 2 of these genesFLNAMAP1BAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesPAN2TRAF7ZFXTBCKAbout this report →
- Cornelia de Lange SyndromeReads 2 of these genesSMC1ANIPBLAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 2 of these genesIGF1IGF1RAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 2 of these genesIFT122WDR35About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesACVR1About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 1 of these genesBRCA1About this report →
- Hereditary Diffuse Gastric CancerReads 1 of these genesCDH1About this report →
- Kabuki SyndromeReads 1 of these genesKMT2DAbout this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesSNRPNMAGEL2About this report →
- Hypertrophic CardiomyopathyReads 5 of these genesMAPK1SPRED2BRAFMAP2K1PTPN11About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Hypogonadotropic HypogonadismReads 4 of these genesFGFR1SNRPNMAGEL2NSMFAbout this report →
- Achondrogenesis panelReads 1 of these genesCOL2A1About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesSOX11About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesNOGAbout this report →
- NeurofibromatosisReads 1 of these genesSMARCB1About this report →
- Inherited Neurodegenerative DisordersReads 9 of these genesFIG4FLVCR1PUM1CACNA1GPOLR3ASNX14About this report →
- Bardet-Biedl and Alström SyndromesReads 2 of these genesBBS7MKS1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesFLVCR1SNX14MKS1About this report →
- Congenital Myasthenic SyndromeReads 2 of these genesSCN4ADPAGT1About this report →
- Colorectal Cancer & PolyposisReads 1 of these genesPOLEAbout this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Waardenburg SyndromeReads 1 of these genesPAX3About 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 →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesFIG4LMNATRPV4About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesPUM1CACNA1GAbout this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesCDH1About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Epilepsy (Full Panel)Reads 4 of these genesFLNAPUM1SMC1AKDM5CAbout this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- Severe Congenital NeutropeniaReads 1 of these genesG6PC3About this report →
- Type I InterferonopathiesReads 1 of these genesPOMPAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesCLCF1FIG4LMNATRPV4About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesCAMSAP1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Fanconi AnemiaReads 1 of these genesBRCA1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Retinitis PigmentosaReads 2 of these genesFLVCR1OFD1About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMTRRAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesTNXBAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesCLCF1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesBCORAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Nephrotic SyndromeReads 1 of these genesNUP107About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesNHEJ1About 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 genesPOLR3AAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesPOMPAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJA1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSCN4AAbout this report →
- DNA Repair DiseaseReads 1 of these genesBRCA1About this report →
- Dilated CardiomyopathyReads 1 of these genesLMNAAbout this report →
- Female InfertilityReads 1 of these genesNUP107About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesNHEJ1PIK3R1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSPARTAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesMAP1BAbout this report →
Découvrez les gènes liés à Curvature of digit, ainsi que le reste de votre génome, grâce à un seul test.
À partir de 449 $Livraison gratuite · Résultats sous 6 à 8 semaines
Obtenir mon Genome Test201 gènes associés à Curvature of digit
Des modifications de ces gènes provoquent des affections rares dans lesquelles Curvature of digit est observé. La plupart des personnes présentant ce trait n'ont aucune de ces affections, et un gène figurant sur cette liste ne dit rien du génome de quiconque.
| Gène | Fréquence d'observation | Affections |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Toujours | Dans 2 affections |
| BBS7Bardet-Biedl syndrome 7 | Toujours | Dans 1 affection |
| BCORBCL6 corepressor | Toujours | Dans 1 affection |
| CEP295centrosomal protein 295 | Toujours | Dans 1 affection |
| CHSY1chondroitin sulfate synthase 1 | Toujours | Dans 1 affection |
| CIROZciliated left-right organizer protein containing ZP-N domains | Toujours | Dans 1 affection |
| CLCF1cardiotrophin like cytokine factor 1 | Toujours | Dans 1 affection |
| DVL3dishevelled segment polarity protein 3 | Toujours | Dans 1 affection |
| FIG4FIG4 phosphoinositide 5-phosphatase | Toujours | Dans 1 affection |
| FLNAfilamin A | Toujours | Dans 3 affections |
| FLVCR1FLVCR choline and heme transporter 1 | Toujours | Dans 1 affection |
| HOXA13homeobox A13 | Toujours | Dans 1 affection |
| INPP5Einositol polyphosphate-5-phosphatase E | Toujours | Dans 1 affection |
| INTUinturned planar cell polarity protein | Toujours | Dans 1 affection |
| KDM2Blysine demethylase 2B | Toujours | Dans 1 affection |
| KDM6Blysine demethylase 6B | Toujours | Dans 1 affection |
| KIF15kinesin family member 15 | Toujours | Dans 2 affections |
| KIF7kinesin family member 7 | Toujours | Dans 2 affections |
| MED16mediator complex subunit 16 | Toujours | Dans 1 affection |
| MYOD1myogenic differentiation 1 | Toujours | Dans 1 affection |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Toujours | Dans 1 affection |
| NHEJ1non-homologous end joining factor 1 | Toujours | Dans 1 affection |
| NUP188nucleoporin 188 | Toujours | Dans 1 affection |
| NXNnucleoredoxin | Toujours | Dans 1 affection |
| OBSL1obscurin like cytoskeletal adaptor 1 | Toujours | Dans 1 affection |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Toujours | Dans 1 affection |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Toujours | Dans 1 affection |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Toujours | Dans 2 affections |
| PTH1Rparathyroid hormone 1 receptor | Toujours | Dans 1 affection |
| PUM1pumilio RNA binding family member 1 | Toujours | Dans 1 affection |
| RAC3Rac family small GTPase 3 | Toujours | Dans 1 affection |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Toujours | Dans 1 affection |
| SMC1Astructural maintenance of chromosomes 1A | Toujours | Dans 2 affections |
| SOX11SRY-box transcription factor 11 | Toujours | Dans 2 affections |
| SPOUT1SPOUT domain containing methyltransferase 1 | Toujours | Dans 1 affection |
| UBAP2Lubiquitin associated protein 2 like | Toujours | Dans 1 affection |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Toujours | Dans 1 affection |
| DVL1dishevelled segment polarity protein 1 | Très souvent (80–99 %) | Dans 2 affections |
| ROR2ROR family WNT receptor 2 | Très souvent (80–99 %) | Dans 1 affection |
| ACVR1activin A receptor type 1 | Souvent (30–79 %) | Dans 1 affection |
Afficher 161 gènes de plus
| Gène | Fréquence d'observation | Affections |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Souvent (30–79 %) | Dans 1 affection |
| ARID1AAT-rich interaction domain 1A | Souvent (30–79 %) | Dans 1 affection |
| ARID1BAT-rich interaction domain 1B | Souvent (30–79 %) | Dans 1 affection |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Souvent (30–79 %) | Dans 1 affection |
| CDK13cyclin dependent kinase 13 | Souvent (30–79 %) | Dans 1 affection |
| CEP57centrosomal protein 57 | Souvent (30–79 %) | Dans 1 affection |
| COL2A1collagen type II alpha 1 chain | Souvent (30–79 %) | Dans 2 affections |
| DPF2double PHD fingers 2 | Souvent (30–79 %) | Dans 1 affection |
| EBF3EBF transcription factor 3 | Souvent (30–79 %) | Dans 1 affection |
| EXOSC5exosome component 5 | Souvent (30–79 %) | Dans 1 affection |
| GINS3GINS complex subunit 3 | Souvent (30–79 %) | Dans 1 affection |
| GJA1gap junction protein alpha 1 | Souvent (30–79 %) | Dans 2 affections |
| GPC4glypican 4 | Souvent (30–79 %) | Dans 1 affection |
| GRB10growth factor receptor bound protein 10 | Souvent (30–79 %) | Dans 1 affection |
| IGF1insulin like growth factor 1 | Souvent (30–79 %) | Dans 1 affection |
| IGF1Rinsulin like growth factor 1 receptor | Souvent (30–79 %) | Dans 2 affections |
| MED12mediator complex subunit 12 | Souvent (30–79 %) | Dans 2 affections |
| NCAPG2non-SMC condensin II complex subunit G2 | Souvent (30–79 %) | Dans 1 affection |
| POLR3ARNA polymerase III subunit A | Souvent (30–79 %) | Dans 1 affection |
| PPFIA3PPFI scaffold protein A3 | Souvent (30–79 %) | Dans 1 affection |
| RALARAS like proto-oncogene A | Souvent (30–79 %) | Dans 1 affection |
| RBSNrabenosyn, RAB effector | Souvent (30–79 %) | Dans 1 affection |
| SLC29A3solute carrier family 29 member 3 | Souvent (30–79 %) | Dans 1 affection |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Souvent (30–79 %) | Dans 1 affection |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Souvent (30–79 %) | Dans 1 affection |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Souvent (30–79 %) | Dans 1 affection |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Souvent (30–79 %) | Dans 1 affection |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Souvent (30–79 %) | Dans 1 affection |
| SMC5structural maintenance of chromosomes 5 | Souvent (30–79 %) | Dans 1 affection |
| SNX14sorting nexin 14 | Souvent (30–79 %) | Dans 2 affections |
| SOX4SRY-box transcription factor 4 | Souvent (30–79 %) | Dans 1 affection |
| TELO2telomere maintenance 2 | Souvent (30–79 %) | Dans 2 affections |
| TOP2BDNA topoisomerase II beta | Souvent (30–79 %) | Dans 1 affection |
| TRAF7TNF receptor associated factor 7 | Souvent (30–79 %) | Dans 1 affection |
| TRPS1transcriptional repressor GATA binding 1 | Souvent (30–79 %) | Dans 1 affection |
| XYLT1xylosyltransferase 1 | Souvent (30–79 %) | Dans 1 affection |
| ZNF668zinc finger protein 668 | Souvent (30–79 %) | Dans 1 affection |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Parfois (5–29 %) | Dans 1 affection |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Parfois (5–29 %) | Dans 1 affection |
| CDC42cell division cycle 42 | Parfois (5–29 %) | Dans 2 affections |
| CDK10cyclin dependent kinase 10 | Parfois (5–29 %) | Dans 1 affection |
| CILK1ciliogenesis associated kinase 1 | Parfois (5–29 %) | Dans 1 affection |
| COLEC10collectin subfamily member 10 | Parfois (5–29 %) | Dans 1 affection |
| DDX3XDEAD-box helicase 3 X-linked | Parfois (5–29 %) | Dans 1 affection |
| DLK1delta like non-canonical Notch ligand 1 | Parfois (5–29 %) | Dans 3 affections |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Parfois (5–29 %) | Dans 1 affection |
| ERMARDER membrane associated RNA degradation | Parfois (5–29 %) | Dans 1 affection |
| FBXO11F-box protein 11 | Parfois (5–29 %) | Dans 1 affection |
| FGF10fibroblast growth factor 10 | Parfois (5–29 %) | Dans 1 affection |
| FGFR1fibroblast growth factor receptor 1 | Parfois (5–29 %) | Dans 1 affection |
| FGFR2fibroblast growth factor receptor 2 | Parfois (5–29 %) | Dans 1 affection |
| FGFR3fibroblast growth factor receptor 3 | Parfois (5–29 %) | Dans 2 affections |
| FOXP1forkhead box P1 | Parfois (5–29 %) | Dans 1 affection |
| IL11RAinterleukin 11 receptor subunit alpha | Parfois (5–29 %) | Dans 1 affection |
| ITCHitchy E3 ubiquitin protein ligase | Parfois (5–29 %) | Dans 2 affections |
| KDM5Clysine demethylase 5C | Parfois (5–29 %) | Dans 1 affection |
| KMT2Alysine methyltransferase 2A | Parfois (5–29 %) | Dans 1 affection |
| KMT2Dlysine methyltransferase 2D | Parfois (5–29 %) | Dans 1 affection |
| MAP1Bmicrotubule associated protein 1B | Parfois (5–29 %) | Dans 1 affection |
| MAPK1mitogen-activated protein kinase 1 | Parfois (5–29 %) | Dans 1 affection |
| MED13Lmediator complex subunit 13L | Parfois (5–29 %) | Dans 2 affections |
| MED25mediator complex subunit 25 | Parfois (5–29 %) | Dans 1 affection |
| MEG3maternally expressed 3 | Parfois (5–29 %) | Dans 3 affections |
| MID2midline 2 | Parfois (5–29 %) | Dans 1 affection |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Parfois (5–29 %) | Dans 1 affection |
| NARS1asparaginyl-tRNA synthetase 1 | Parfois (5–29 %) | Dans 2 affections |
| NFIXnuclear factor I X | Parfois (5–29 %) | Dans 1 affection |
| NIPBLNIPBL cohesin loading factor | Parfois (5–29 %) | Dans 1 affection |
| NPR3natriuretic peptide receptor 3 | Parfois (5–29 %) | Dans 1 affection |
| NUP107nucleoporin 107 | Parfois (5–29 %) | Dans 2 affections |
| OFD1OFD1 centriole and centriolar satellite protein | Parfois (5–29 %) | Dans 1 affection |
| PAX1paired box 1 | Parfois (5–29 %) | Dans 1 affection |
| PCDHGC4protocadherin gamma subfamily C, 4 | Parfois (5–29 %) | Dans 1 affection |
| PGAP2post-GPI attachment to proteins 2 | Parfois (5–29 %) | Dans 1 affection |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Parfois (5–29 %) | Dans 1 affection |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Parfois (5–29 %) | Dans 1 affection |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Parfois (5–29 %) | Dans 1 affection |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Parfois (5–29 %) | Dans 1 affection |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Parfois (5–29 %) | Dans 1 affection |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Parfois (5–29 %) | Dans 1 affection |
| POGZpogo transposable element derived with ZNF domain | Parfois (5–29 %) | Dans 1 affection |
| POLEDNA polymerase epsilon, catalytic subunit | Parfois (5–29 %) | Dans 1 affection |
| PORcytochrome p450 oxidoreductase | Parfois (5–29 %) | Dans 1 affection |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Parfois (5–29 %) | Dans 1 affection |
| RBM10RNA binding motif protein 10 | Parfois (5–29 %) | Dans 2 affections |
| RHOAras homolog family member A | Parfois (5–29 %) | Dans 1 affection |
| RTL1retrotransposon Gag like 1 | Parfois (5–29 %) | Dans 3 affections |
| SCARF2scavenger receptor class F member 2 | Parfois (5–29 %) | Dans 1 affection |
| SIN3ASIN3 transcription regulator family member A | Parfois (5–29 %) | Dans 3 affections |
| SIN3BSIN3 transcription regulator family member B | Parfois (5–29 %) | Dans 1 affection |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Parfois (5–29 %) | Dans 1 affection |
| SPARTspartin | Parfois (5–29 %) | Dans 2 affections |
| SPRED2sprouty related EVH1 domain containing 2 | Parfois (5–29 %) | Dans 1 affection |
| SRCAPSnf2 related CREBBP activator protein | Parfois (5–29 %) | Dans 1 affection |
| TASP1taspase 1 | Parfois (5–29 %) | Dans 1 affection |
| TNXBtenascin XB | Parfois (5–29 %) | Dans 1 affection |
| TRMT10AtRNA methyltransferase 10A | Parfois (5–29 %) | Dans 1 affection |
| WDR83OSWD repeat domain 83 opposite strand | Parfois (5–29 %) | Dans 1 affection |
| XRCC4X-ray repair cross complementing 4 | Parfois (5–29 %) | Dans 1 affection |
| ZFXzinc finger protein X-linked | Parfois (5–29 %) | Dans 1 affection |
| FN1fibronectin 1 | Rarement (1–4 %) | Dans 1 affection |
| PAHphenylalanine hydroxylase | Rarement (1–4 %) | Dans 1 affection |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rarement (1–4 %) | Dans 1 affection |
| TBCKTBC1 domain containing kinase | Rarement (1–4 %) | Dans 1 affection |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Non signalé | Dans 1 affection |
| ALX3ALX homeobox 3 | Non signalé | Dans 1 affection |
| ATRXATRX chromatin remodeler | Non signalé | Dans 2 affections |
| BLTP1bridge-like lipid transfer protein family member 1 | Non signalé | Dans 1 affection |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Non signalé | Dans 1 affection |
| BRCA1BRCA1 DNA repair associated | Non signalé | Dans 1 affection |
| CD96CD96 molecule | Non signalé | Dans 1 affection |
| CDC6cell division cycle 6 | Non signalé | Dans 1 affection |
| CDH1cadherin 1 | Non signalé | Dans 1 affection |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Non signalé | Dans 1 affection |
| DCHS1dachsous cadherin-related 1 | Non signalé | Dans 1 affection |
| DLX5distal-less homeobox 5 | Non signalé | Dans 1 affection |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Non signalé | Dans 1 affection |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Non signalé | Dans 1 affection |
| FAT4FAT atypical cadherin 4 | Non signalé | Dans 1 affection |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Non signalé | Dans 1 affection |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Non signalé | Dans 1 affection |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Non signalé | Dans 1 affection |
| IFT122intraflagellar transport 122 | Non signalé | Dans 1 affection |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Non signalé | Dans 1 affection |
| LMNAlamin A/C | Non signalé | Dans 1 affection |
| MAGEL2MAGE family member L2 | Non signalé | Dans 2 affections |
| MAP2K1mitogen-activated protein kinase kinase 1 | Non signalé | Dans 1 affection |
| MKRN3makorin ring finger protein 3 | Non signalé | Dans 1 affection |
| MKS1MKS transition zone complex subunit 1 | Non signalé | Dans 1 affection |
| NOGnoggin | Non signalé | Dans 1 affection |
| NPAP1nuclear pore associated protein 1 | Non signalé | Dans 1 affection |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Non signalé | Dans 1 affection |
| PAX3paired box 3 | Non signalé | Dans 1 affection |
| PCGF2polycomb group ring finger 2 | Non signalé | Dans 1 affection |
| PHGDHphosphoglycerate dehydrogenase | Non signalé | Dans 1 affection |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Non signalé | Dans 1 affection |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Non signalé | Dans 1 affection |
| POC1APOC1 centriolar protein A | Non signalé | Dans 1 affection |
| POMPproteasome maturation protein | Non signalé | Dans 1 affection |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Non signalé | Dans 1 affection |
| PUF60poly(U) binding splicing factor 60 | Non signalé | Dans 1 affection |
| PWAR1Prader Willi/Angelman region RNA 1 | Non signalé | Dans 1 affection |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Non signalé | Dans 1 affection |
| SF3B4splicing factor 3b subunit 4 | Non signalé | Dans 1 affection |
| SLC35A1solute carrier family 35 member A1 | Non signalé | Dans 1 affection |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Non signalé | Dans 1 affection |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Non signalé | Dans 1 affection |
| SOX5SRY-box transcription factor 5 | Non signalé | Dans 1 affection |
| SPRTNSprT-like N-terminal domain | Non signalé | Dans 1 affection |
| SSR4signal sequence receptor subunit 4 | Non signalé | Dans 1 affection |
| STAMBPSTAM binding protein | Non signalé | Dans 1 affection |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Non signalé | Dans 1 affection |
| TCF4transcription factor 4 | Non signalé | Dans 1 affection |
| TCTN3tectonic family member 3 | Non signalé | Dans 1 affection |
| TNNT3troponin T3, fast skeletal type | Non signalé | Dans 1 affection |
| TRIP12thyroid hormone receptor interactor 12 | Non signalé | Dans 1 affection |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Non signalé | Dans 2 affections |
| WDR35WD repeat domain 35 | Non signalé | Dans 1 affection |
| WNK3WNK lysine deficient protein kinase 3 | Non signalé | Dans 1 affection |
| WNT5AWnt family member 5A | Non signalé | Dans 1 affection |
| WNT7AWnt family member 7A | Non signalé | Dans 1 affection |
Fréquence à laquelle le trait apparaît chez les personnes atteintes de l'une des affections liées à ce gène, telle que la Human Phenotype Ontology la consigne. Ces pages décrivent des traits et les recherches qui s'y rapportent ; elles ne constituent pas un diagnostic, et c'est un médecin ou un conseiller en génétique qu'il faut consulter au sujet des symptômes.
Traits plus précis
Traits plus généraux
D'où viennent ces informations
- La Human Phenotype Ontology, version 2026-09-01 : le trait, ses noms, sa définition et les gènes qui lui sont associés. En savoir plus sur hpo.jax.org.
- Version des données 2026.10.19-9814e911.
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