Tunnus
Bulging cornea
Kliiniline nimetus: Keratoconus
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Kokkuvõte
- Teised nimetused
- Conical cornea
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Bulging cornea, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test144 geeni on seotud tunnusega Bulging cornea
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Bulging cornea. 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 |
|---|---|---|
| GLI3GLI family zinc finger 3 | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 1 haiguses |
| MIR184microRNA 184 | Alati | Esineb 1 haiguses |
| TUBA3Dtubulin alpha 3d | Alati | Esineb 1 haiguses |
| ZEB1zinc finger E-box binding homeobox 1 | Alati | Esineb 1 haiguses |
| ABCA4ATP binding cassette subfamily A member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AHRaryl hydrocarbon receptor | Sageli (30–79%) | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Sageli (30–79%) | Esineb 2 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Sageli (30–79%) | Esineb 1 haiguses |
| ARL2BPARF like GTPase 2 binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BEST1bestrophin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CA4carbonic anhydrase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CABP4calcium binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sageli (30–79%) | Esineb 1 haiguses |
| CDHR1cadherin related family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CERKLCERK like autophagy regulator | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP20cilia and flagella associated protein 20 | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Sageli (30–79%) | Esineb 1 haiguses |
| CLRN1clarin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COQ8Bcoenzyme Q8B | Sageli (30–79%) | Esineb 1 haiguses |
| CRB1crumbs cell polarity complex component 1 | Sageli (30–79%) | Esineb 3 haiguses |
| CRXcone-rod homeobox | Sageli (30–79%) | Esineb 3 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| DHX38DEAH-box helicase 38 | Sageli (30–79%) | Esineb 1 haiguses |
| EYSEGF-like photoreceptor maintenance factor | Sageli (30–79%) | Esineb 1 haiguses |
| FAM161AFAM161 centrosomal protein A | Sageli (30–79%) | Esineb 1 haiguses |
| FSCN2fascin actin-bundling protein 2, retinal | Sageli (30–79%) | Esineb 1 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| GDF6growth differentiation factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 104 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GUCA1Bguanylate cyclase activator 1B | Sageli (30–79%) | Esineb 1 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Sageli (30–79%) | Esineb 2 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| HKDC1hexokinase domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Sageli (30–79%) | Esineb 2 haiguses |
| IFT172intraflagellar transport 172 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT43intraflagellar transport 43 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT88intraflagellar transport 88 | Sageli (30–79%) | Esineb 1 haiguses |
| IMPDH1inosine monophosphate dehydrogenase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Sageli (30–79%) | Esineb 1 haiguses |
| IQCB1IQ motif containing B1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Sageli (30–79%) | Esineb 1 haiguses |
| KIAA1549KIAA1549 | Sageli (30–79%) | Esineb 1 haiguses |
| KIZkizuna centrosomal protein | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL7kelch like family member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| LCA5lebercilin LCA5 | Sageli (30–79%) | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Sageli (30–79%) | Esineb 1 haiguses |
| MAKmale germ cell associated kinase | Sageli (30–79%) | Esineb 1 haiguses |
| MERTKMER proto-oncogene, tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| NEK2NIMA related kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NRLneural retina leucine zipper | Sageli (30–79%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Sageli (30–79%) | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PCAREphotoreceptor cilium actin regulator | Sageli (30–79%) | Esineb 1 haiguses |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Sageli (30–79%) | Esineb 1 haiguses |
| PDE6Aphosphodiesterase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| PDE6Bphosphodiesterase 6B | Sageli (30–79%) | Esineb 1 haiguses |
| PDE6Gphosphodiesterase 6G | Sageli (30–79%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sageli (30–79%) | Esineb 1 haiguses |
| PRCDphotoreceptor disc component | Sageli (30–79%) | Esineb 1 haiguses |
| PRDM5PR/SET domain 5 | Sageli (30–79%) | Esineb 2 haiguses |
| PROM1prominin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF3pre-mRNA processing factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF31pre-mRNA processing factor 31 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF6pre-mRNA processing factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF8pre-mRNA processing factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPH2peripherin 2 | Sageli (30–79%) | Esineb 2 haiguses |
| RBP3retinol binding protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| RD3RD3 regulator of GUCY2D | Sageli (30–79%) | Esineb 1 haiguses |
| RDH12retinol dehydrogenase 12 | Sageli (30–79%) | Esineb 2 haiguses |
| REEP6receptor accessory protein 6 | Sageli (30–79%) | Esineb 1 haiguses |
| RGRretinal G protein coupled receptor | Sageli (30–79%) | Esineb 1 haiguses |
| RHOrhodopsin | Sageli (30–79%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-1RNA, U6 small nuclear 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-2RNA, U6 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-8RNA, U6 small nuclear 8 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-9RNA, U6 small nuclear 9 | Sageli (30–79%) | Esineb 1 haiguses |
| ROM1retinal outer segment membrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RP1RP1 axonemal microtubule associated | Sageli (30–79%) | Esineb 1 haiguses |
| RP1L1RP1 like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RP2RP2 activator of ARL3 GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| RP9RP9 pre-mRNA splicing factor | Sageli (30–79%) | Esineb 1 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Sageli (30–79%) | Esineb 2 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1RPGR interacting protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SAGS-antigen visual arrestin | Sageli (30–79%) | Esineb 1 haiguses |
| SAXO6stabilizer of axonemal microtubules 6 | Sageli (30–79%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Sageli (30–79%) | Esineb 1 haiguses |
| SLC7A14solute carrier family 7 member 14 | Sageli (30–79%) | Esineb 1 haiguses |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Sageli (30–79%) | Esineb 1 haiguses |
| SPATA7spermatogenesis associated 7 | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM216transmembrane protein 216 | Sageli (30–79%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Sageli (30–79%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBTUB bipartite transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB4Btubulin beta 4B class IVb | Sageli (30–79%) | Esineb 1 haiguses |
| TULP1TUB like protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| USH2Ausherin | Sageli (30–79%) | Esineb 1 haiguses |
| USP45ubiquitin specific peptidase 45 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF469zinc finger protein 469 | Sageli (30–79%) | Esineb 2 haiguses |
| ZNF513zinc finger protein 513 | Sageli (30–79%) | Esineb 1 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB5G protein subunit beta 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ABCA12ATP binding cassette subfamily A member 12 | Harva (1–4%) | Esineb 1 haiguses |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Harva (1–4%) | Esineb 1 haiguses |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Harva (1–4%) | Esineb 1 haiguses |
| ASPRV1aspartic peptidase retroviral like 1 | Harva (1–4%) | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Harva (1–4%) | Esineb 2 haiguses |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Harva (1–4%) | Esineb 1 haiguses |
| LIPNlipase family member N | Harva (1–4%) | Esineb 1 haiguses |
| NIPAL4NIPA like domain containing 4 | Harva (1–4%) | Esineb 1 haiguses |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Harva (1–4%) | Esineb 1 haiguses |
| SULT2B1sulfotransferase family 2B member 1 | Harva (1–4%) | Esineb 1 haiguses |
| TGM1transglutaminase 1 | Harva (1–4%) | Esineb 1 haiguses |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Pole registreeritud | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Pole registreeritud | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Pole registreeritud | Esineb 1 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Pole registreeritud | Esineb 1 haiguses |
| VSX1visual system homeobox 1 | 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.
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