AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Curvature of digit
Klinikinis pavadinimas: Clinodactyly
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Santrauka
- Taip pat vadinama
- Permanent curving of the finger
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/clinodactyly.json"
page <- fromJSON(url)
page$trait$nameCurvature of digitHP:0030084
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Curvature of digit, ir kitą jūsų genomo dalį.
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Įsigyti savo 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 →
Vienu tyrimu sužinokite genus, susijusius su Curvature of digit, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test201 genas susijęs su Curvature of digit
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Curvature of digit. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Visada | 2 ligose |
| BBS7Bardet-Biedl syndrome 7 | Visada | 1 ligoje |
| BCORBCL6 corepressor | Visada | 1 ligoje |
| CEP295centrosomal protein 295 | Visada | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Visada | 1 ligoje |
| CIROZciliated left-right organizer protein containing ZP-N domains | Visada | 1 ligoje |
| CLCF1cardiotrophin like cytokine factor 1 | Visada | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Visada | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 3 ligose |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| HOXA13homeobox A13 | Visada | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Visada | 1 ligoje |
| INTUinturned planar cell polarity protein | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIF15kinesin family member 15 | Visada | 2 ligose |
| KIF7kinesin family member 7 | Visada | 2 ligose |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| NUP188nucleoporin 188 | Visada | 1 ligoje |
| NXNnucleoredoxin | Visada | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Visada | 1 ligoje |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Visada | 1 ligoje |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Visada | 2 ligose |
| PTH1Rparathyroid hormone 1 receptor | Visada | 1 ligoje |
| PUM1pumilio RNA binding family member 1 | Visada | 1 ligoje |
| RAC3Rac family small GTPase 3 | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 2 ligose |
| SOX11SRY-box transcription factor 11 | Visada | 2 ligose |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Labai dažnai (80–99%) | 2 ligose |
| ROR2ROR family WNT receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| ACVR1activin A receptor type 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 161 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Dažnai (30–79%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Dažnai (30–79%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Dažnai (30–79%) | 1 ligoje |
| CEP57centrosomal protein 57 | Dažnai (30–79%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| EXOSC5exosome component 5 | Dažnai (30–79%) | 1 ligoje |
| GINS3GINS complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 2 ligose |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Dažnai (30–79%) | 1 ligoje |
| IGF1insulin like growth factor 1 | Dažnai (30–79%) | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Dažnai (30–79%) | 2 ligose |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 2 ligose |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Dažnai (30–79%) | 1 ligoje |
| RALARAS like proto-oncogene A | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Dažnai (30–79%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Dažnai (30–79%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Dažnai (30–79%) | 1 ligoje |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Dažnai (30–79%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Dažnai (30–79%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Dažnai (30–79%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Dažnai (30–79%) | 1 ligoje |
| SNX14sorting nexin 14 | Dažnai (30–79%) | 2 ligose |
| SOX4SRY-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| TELO2telomere maintenance 2 | Dažnai (30–79%) | 2 ligose |
| TOP2BDNA topoisomerase II beta | Dažnai (30–79%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Dažnai (30–79%) | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Dažnai (30–79%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| ZNF668zinc finger protein 668 | Dažnai (30–79%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 2 ligose |
| CDK10cyclin dependent kinase 10 | Kartais (5–29%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Kartais (5–29%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Kartais (5–29%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 3 ligose |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| ERMARDER membrane associated RNA degradation | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 2 ligose |
| FOXP1forkhead box P1 | Kartais (5–29%) | 1 ligoje |
| IL11RAinterleukin 11 receptor subunit alpha | Kartais (5–29%) | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Kartais (5–29%) | 2 ligose |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| MAP1Bmicrotubule associated protein 1B | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 2 ligose |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 3 ligose |
| MID2midline 2 | Kartais (5–29%) | 1 ligoje |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Kartais (5–29%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 2 ligose |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| NPR3natriuretic peptide receptor 3 | Kartais (5–29%) | 1 ligoje |
| NUP107nucleoporin 107 | Kartais (5–29%) | 2 ligose |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PAX1paired box 1 | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| RBM10RNA binding motif protein 10 | Kartais (5–29%) | 2 ligose |
| RHOAras homolog family member A | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 3 ligose |
| SCARF2scavenger receptor class F member 2 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 3 ligose |
| SIN3BSIN3 transcription regulator family member B | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SPARTspartin | Kartais (5–29%) | 2 ligose |
| SPRED2sprouty related EVH1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| TASP1taspase 1 | Kartais (5–29%) | 1 ligoje |
| TNXBtenascin XB | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| FN1fibronectin 1 | Retai (1–4 %) | 1 ligoje |
| PAHphenylalanine hydroxylase | Retai (1–4 %) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Retai (1–4 %) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Retai (1–4 %) | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Neužfiksuota | 1 ligoje |
| ALX3ALX homeobox 3 | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 2 ligose |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Neužfiksuota | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Neužfiksuota | 1 ligoje |
| CD96CD96 molecule | Neužfiksuota | 1 ligoje |
| CDC6cell division cycle 6 | Neužfiksuota | 1 ligoje |
| CDH1cadherin 1 | Neužfiksuota | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Neužfiksuota | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Neužfiksuota | 1 ligoje |
| DLX5distal-less homeobox 5 | Neužfiksuota | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Neužfiksuota | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Neužfiksuota | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Neužfiksuota | 1 ligoje |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Neužfiksuota | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IFT122intraflagellar transport 122 | Neužfiksuota | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Neužfiksuota | 1 ligoje |
| LMNAlamin A/C | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 2 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Neužfiksuota | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Neužfiksuota | 1 ligoje |
| NOGnoggin | Neužfiksuota | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Neužfiksuota | 1 ligoje |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Neužfiksuota | 1 ligoje |
| PAX3paired box 3 | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Neužfiksuota | 1 ligoje |
| POC1APOC1 centriolar protein A | Neužfiksuota | 1 ligoje |
| POMPproteasome maturation protein | Neužfiksuota | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Neužfiksuota | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Neužfiksuota | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Neužfiksuota | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Neužfiksuota | 1 ligoje |
| SF3B4splicing factor 3b subunit 4 | Neužfiksuota | 1 ligoje |
| SLC35A1solute carrier family 35 member A1 | Neužfiksuota | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Neužfiksuota | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Neužfiksuota | 1 ligoje |
| SOX5SRY-box transcription factor 5 | Neužfiksuota | 1 ligoje |
| SPRTNSprT-like N-terminal domain | Neužfiksuota | 1 ligoje |
| SSR4signal sequence receptor subunit 4 | Neužfiksuota | 1 ligoje |
| STAMBPSTAM binding protein | Neužfiksuota | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Neužfiksuota | 1 ligoje |
| TCF4transcription factor 4 | Neužfiksuota | 1 ligoje |
| TCTN3tectonic family member 3 | Neužfiksuota | 1 ligoje |
| TNNT3troponin T3, fast skeletal type | Neužfiksuota | 1 ligoje |
| TRIP12thyroid hormone receptor interactor 12 | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 2 ligose |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
| WNK3WNK lysine deficient protein kinase 3 | Neužfiksuota | 1 ligoje |
| WNT5AWnt family member 5A | Neužfiksuota | 1 ligoje |
| WNT7AWnt family member 7A | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Siauresni požymiai
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
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