Požymis
Inward turning cross eyed
Klinikinis pavadinimas: Esotropia
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Santrauka
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test204 genų susiję su Inward turning cross eyed
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Inward turning cross eyed. 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 |
|---|---|---|
| ADGRG1adhesion G protein-coupled receptor G1 | Visada | 2 ligose |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Visada | 2 ligose |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Visada | 1 ligoje |
| ATOH7atonal bHLH transcription factor 7 | Visada | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Visada | 1 ligoje |
| EXOSC5exosome component 5 | Visada | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| FBXO28F-box protein 28 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| H4C11H4 clustered histone 11 | Visada | 1 ligoje |
| HMGB3high mobility group box 3 | Visada | 1 ligoje |
| HOXB1homeobox B1 | Visada | 1 ligoje |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| LGI4leucine rich repeat LGI family member 4 | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Visada | 1 ligoje |
| THAP11THAP domain containing 11 | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Labai dažnai (80–99%) | 1 ligoje |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| SOBPsine oculis binding protein homolog | Labai dažnai (80–99%) | 1 ligoje |
| AHCYadenosylhomocysteinase | Dažnai (30–79%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 2 ligose |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Dažnai (30–79%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Dažnai (30–79%) | 2 ligose |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 2 ligose |
| CHMP1Acharged multivesicular body protein 1A | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL4A2collagen type IV alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 164 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| COL6A3collagen type VI alpha 3 chain | Dažnai (30–79%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| EXOSC9exosome component 9 | Dažnai (30–79%) | 2 ligose |
| FAM149B1family with sequence similarity 149 member B1 | Dažnai (30–79%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Dažnai (30–79%) | 1 ligoje |
| FZD4frizzled class receptor 4 | Dažnai (30–79%) | 1 ligoje |
| GALCgalactosylceramidase | Dažnai (30–79%) | 1 ligoje |
| GLRBglycine receptor beta | Dažnai (30–79%) | 1 ligoje |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GRM1glutamate metabotropic receptor 1 | Dažnai (30–79%) | 2 ligose |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KIAA0753KIAA0753 | Dažnai (30–79%) | 2 ligose |
| KIDINS220kinase D interacting substrate 220 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Dažnai (30–79%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Dažnai (30–79%) | 1 ligoje |
| NCDNneurochondrin | Dažnai (30–79%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Dažnai (30–79%) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Dažnai (30–79%) | 2 ligose |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Dažnai (30–79%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 2 ligose |
| POU4F1POU class 4 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Dažnai (30–79%) | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Dažnai (30–79%) | 1 ligoje |
| SALL2spalt like transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Dažnai (30–79%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Dažnai (30–79%) | 1 ligoje |
| SYT1synaptotagmin 1 | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 2 ligose |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Dažnai (30–79%) | 2 ligose |
| UNC80unc-80 subunit of NALCN channel complex | Dažnai (30–79%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Dažnai (30–79%) | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Kartais (5–29%) | 1 ligoje |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Kartais (5–29%) | 1 ligoje |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Kartais (5–29%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Kartais (5–29%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| COL25A1collagen type XXV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CYB5Acytochrome b5 type A | Kartais (5–29%) | 1 ligoje |
| CYB5R3cytochrome b5 reductase 3 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Kartais (5–29%) | 2 ligose |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FAM177A1family with sequence similarity 177 member A1 | Kartais (5–29%) | 1 ligoje |
| FRMD5FERM domain containing 5 | Kartais (5–29%) | 1 ligoje |
| GNA14G protein subunit alpha 14 | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 2 ligose |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Kartais (5–29%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Kartais (5–29%) | 1 ligoje |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Kartais (5–29%) | 1 ligoje |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Kartais (5–29%) | 1 ligoje |
| KAT8lysine acetyltransferase 8 | Kartais (5–29%) | 1 ligoje |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Kartais (5–29%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Kartais (5–29%) | 1 ligoje |
| KIF21Akinesin family member 21A | Kartais (5–29%) | 2 ligose |
| LIM2lens intrinsic membrane protein 2 | Kartais (5–29%) | 1 ligoje |
| LRMDAleucine rich melanocyte differentiation associated | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Kartais (5–29%) | 3 ligose |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Kartais (5–29%) | 2 ligose |
| NPAP1nuclear pore associated protein 1 | Kartais (5–29%) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Kartais (5–29%) | 1 ligoje |
| NTNG2netrin G2 | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | Kartais (5–29%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | 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 |
| PHOX2Apaired like homeobox 2A | Kartais (5–29%) | 1 ligoje |
| PIDD1p53-induced death domain protein 1 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | 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 |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Kartais (5–29%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Kartais (5–29%) | 1 ligoje |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Kartais (5–29%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RORARAR related orphan receptor A | Kartais (5–29%) | 1 ligoje |
| RRAS2RAS related 2 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SEC23ASEC23 homolog A, COPII component | Kartais (5–29%) | 1 ligoje |
| SIAH1siah E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Kartais (5–29%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 1 ligoje |
| TTI1TELO2 interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| TUBA1Atubulin alpha 1a | Kartais (5–29%) | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Kartais (5–29%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Kartais (5–29%) | 1 ligoje |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Retai (1–4 %) | 1 ligoje |
| COL8A2collagen type VIII alpha 2 chain | Retai (1–4 %) | 1 ligoje |
| EXOSC3exosome component 3 | Retai (1–4 %) | 1 ligoje |
| EXOSC8exosome component 8 | Retai (1–4 %) | 1 ligoje |
| FBN1fibrillin 1 | Retai (1–4 %) | 1 ligoje |
| GRHL2grainyhead like transcription factor 2 | Retai (1–4 %) | 1 ligoje |
| OVOL2ovo like zinc finger 2 | Retai (1–4 %) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Retai (1–4 %) | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Retai (1–4 %) | 1 ligoje |
| VSX1visual system homeobox 1 | Retai (1–4 %) | 1 ligoje |
| ZEB1zinc finger E-box binding homeobox 1 | Retai (1–4 %) | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Neužfiksuota | 1 ligoje |
| ARHGAP31Rho GTPase activating protein 31 | Neužfiksuota | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Neužfiksuota | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Neužfiksuota | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Neužfiksuota | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Neužfiksuota | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| LAGE3L antigen family member 3 | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Neužfiksuota | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Neužfiksuota | 1 ligoje |
| SOSTsclerostin | Neužfiksuota | 1 ligoje |
| SREBF1sterol regulatory element binding transcription factor 1 | Neužfiksuota | 1 ligoje |
| TBC1D23TBC1 domain family member 23 | Neužfiksuota | 1 ligoje |
| TBX1T-box transcription factor 1 | Neužfiksuota | 1 ligoje |
| TENM3teneurin transmembrane protein 3 | Neužfiksuota | 1 ligoje |
| TRIT1tRNA isopentenyltransferase 1 | Neužfiksuota | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | 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.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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