Tunnus
Curvature of digit
Kliiniline nimetus: Clinodactyly
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Kokkuvõte
- Teised nimetused
- Permanent curving of the finger
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Curvature of digit, and the rest of your genome, with one test.
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Telli oma Genome Test201 geeni on seotud tunnusega Curvature of digit
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Curvature of digit. 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Alati | Esineb 2 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Alati | Esineb 1 haiguses |
| BCORBCL6 corepressor | Alati | Esineb 1 haiguses |
| CEP295centrosomal protein 295 | Alati | Esineb 1 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Alati | Esineb 1 haiguses |
| CIROZciliated left-right organizer protein containing ZP-N domains | Alati | Esineb 1 haiguses |
| CLCF1cardiotrophin like cytokine factor 1 | Alati | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Alati | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alati | Esineb 1 haiguses |
| FLNAfilamin A | Alati | Esineb 3 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Alati | Esineb 1 haiguses |
| HOXA13homeobox A13 | Alati | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Alati | Esineb 1 haiguses |
| INTUinturned planar cell polarity protein | Alati | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KIF15kinesin family member 15 | Alati | Esineb 2 haiguses |
| KIF7kinesin family member 7 | Alati | Esineb 2 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| MYOD1myogenic differentiation 1 | Alati | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Alati | Esineb 1 haiguses |
| NHEJ1non-homologous end joining factor 1 | Alati | Esineb 1 haiguses |
| NUP188nucleoporin 188 | Alati | Esineb 1 haiguses |
| NXNnucleoredoxin | Alati | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Alati | Esineb 1 haiguses |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Alati | Esineb 1 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Alati | Esineb 2 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Alati | Esineb 1 haiguses |
| PUM1pumilio RNA binding family member 1 | Alati | Esineb 1 haiguses |
| RAC3Rac family small GTPase 3 | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 2 haiguses |
| SOX11SRY-box transcription factor 11 | Alati | Esineb 2 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ROR2ROR family WNT receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACVR1activin A receptor type 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 161 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Sageli (30–79%) | Esineb 1 haiguses |
| CDK13cyclin dependent kinase 13 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Sageli (30–79%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Sageli (30–79%) | Esineb 2 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC5exosome component 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GINS3GINS complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GRB10growth factor receptor bound protein 10 | Sageli (30–79%) | Esineb 1 haiguses |
| IGF1insulin like growth factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Sageli (30–79%) | Esineb 2 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 2 haiguses |
| NCAPG2non-SMC condensin II complex subunit G2 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Sageli (30–79%) | Esineb 1 haiguses |
| RALARAS like proto-oncogene A | Sageli (30–79%) | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Sageli (30–79%) | Esineb 1 haiguses |
| SLC29A3solute carrier family 29 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMC5structural maintenance of chromosomes 5 | Sageli (30–79%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Sageli (30–79%) | Esineb 2 haiguses |
| SOX4SRY-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TELO2telomere maintenance 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TOP2BDNA topoisomerase II beta | Sageli (30–79%) | Esineb 1 haiguses |
| TRAF7TNF receptor associated factor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF668zinc finger protein 668 | Sageli (30–79%) | Esineb 1 haiguses |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CDK10cyclin dependent kinase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COLEC10collectin subfamily member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF10fibroblast growth factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FOXP1forkhead box P1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL11RAinterleukin 11 receptor subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 2 haiguses |
| KDM5Clysine demethylase 5C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP1Bmicrotubule associated protein 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 2 haiguses |
| MED25mediator complex subunit 25 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 3 haiguses |
| MID2midline 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NARS1asparaginyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NFIXnuclear factor I X | Mõnikord (5–29%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPR3natriuretic peptide receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NUP107nucleoporin 107 | Mõnikord (5–29%) | Esineb 2 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX1paired box 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCDHGC4protocadherin gamma subfamily C, 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBM10RNA binding motif protein 10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RHOAras homolog family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| SCARF2scavenger receptor class F member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 3 haiguses |
| SIN3BSIN3 transcription regulator family member B | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPARTspartin | Mõnikord (5–29%) | Esineb 2 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TASP1taspase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNXBtenascin XB | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Mõnikord (5–29%) | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| FN1fibronectin 1 | Harva (1–4%) | Esineb 1 haiguses |
| PAHphenylalanine hydroxylase | Harva (1–4%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Harva (1–4%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Harva (1–4%) | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ALX3ALX homeobox 3 | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 2 haiguses |
| BLTP1bridge-like lipid transfer protein family member 1 | Pole registreeritud | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Pole registreeritud | Esineb 1 haiguses |
| BRCA1BRCA1 DNA repair associated | Pole registreeritud | Esineb 1 haiguses |
| CD96CD96 molecule | Pole registreeritud | Esineb 1 haiguses |
| CDC6cell division cycle 6 | Pole registreeritud | Esineb 1 haiguses |
| CDH1cadherin 1 | Pole registreeritud | Esineb 1 haiguses |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| DCHS1dachsous cadherin-related 1 | Pole registreeritud | Esineb 1 haiguses |
| DLX5distal-less homeobox 5 | Pole registreeritud | Esineb 1 haiguses |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Pole registreeritud | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Pole registreeritud | Esineb 1 haiguses |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Pole registreeritud | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| IFT122intraflagellar transport 122 | Pole registreeritud | Esineb 1 haiguses |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Pole registreeritud | Esineb 1 haiguses |
| LMNAlamin A/C | Pole registreeritud | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Pole registreeritud | Esineb 2 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Pole registreeritud | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| NOGnoggin | Pole registreeritud | Esineb 1 haiguses |
| NPAP1nuclear pore associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Pole registreeritud | Esineb 1 haiguses |
| PAX3paired box 3 | Pole registreeritud | Esineb 1 haiguses |
| PCGF2polycomb group ring finger 2 | Pole registreeritud | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Pole registreeritud | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Pole registreeritud | Esineb 1 haiguses |
| POMPproteasome maturation protein | Pole registreeritud | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Pole registreeritud | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Pole registreeritud | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| SF3B4splicing factor 3b subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| SLC35A1solute carrier family 35 member A1 | Pole registreeritud | Esineb 1 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Pole registreeritud | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Pole registreeritud | Esineb 1 haiguses |
| SOX5SRY-box transcription factor 5 | Pole registreeritud | Esineb 1 haiguses |
| SPRTNSprT-like N-terminal domain | Pole registreeritud | Esineb 1 haiguses |
| SSR4signal sequence receptor subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| STAMBPSTAM binding protein | Pole registreeritud | Esineb 1 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Pole registreeritud | Esineb 1 haiguses |
| TCF4transcription factor 4 | Pole registreeritud | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Pole registreeritud | Esineb 1 haiguses |
| TNNT3troponin T3, fast skeletal type | Pole registreeritud | Esineb 1 haiguses |
| TRIP12thyroid hormone receptor interactor 12 | Pole registreeritud | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Pole registreeritud | Esineb 2 haiguses |
| WDR35WD repeat domain 35 | Pole registreeritud | Esineb 1 haiguses |
| WNK3WNK lysine deficient protein kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Pole registreeritud | Esineb 1 haiguses |
| WNT7AWnt family member 7A | 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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast