Piirre
Bulging cornea
Kliininen nimi: Keratoconus
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Yhteenveto
- Tunnetaan myös nimellä
- Conical cornea
- Elimistön järjestelmä
- Abnormality of the eye
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Bulging cornea, and the rest of your genome, with one test.
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Tilaa Genome Test144 geeniä, jotka liittyvät piirteeseen Bulging cornea
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Bulging cornea esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| GLI3GLI family zinc finger 3 | Aina | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 1 sairaudessa |
| MIR184microRNA 184 | Aina | 1 sairaudessa |
| TUBA3Dtubulin alpha 3d | Aina | 1 sairaudessa |
| ZEB1zinc finger E-box binding homeobox 1 | Aina | 1 sairaudessa |
| ABCA4ATP binding cassette subfamily A member 4 | Usein (30–79%) | 1 sairaudessa |
| AGBL5AGBL carboxypeptidase 5 | Usein (30–79%) | 1 sairaudessa |
| AHI1Abelson helper integration site 1 | Usein (30–79%) | 1 sairaudessa |
| AHRaryl hydrocarbon receptor | Usein (30–79%) | 1 sairaudessa |
| AIPL1AIP like 1 HSP90 co-chaperone | Usein (30–79%) | 2 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Usein (30–79%) | 1 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Usein (30–79%) | 2 sairaudessa |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Usein (30–79%) | 1 sairaudessa |
| ARL2BPARF like GTPase 2 binding protein | Usein (30–79%) | 1 sairaudessa |
| ARL3ARF like GTPase 3 | Usein (30–79%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Usein (30–79%) | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Usein (30–79%) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Usein (30–79%) | 1 sairaudessa |
| BEST1bestrophin 1 | Usein (30–79%) | 1 sairaudessa |
| CA4carbonic anhydrase 4 | Usein (30–79%) | 1 sairaudessa |
| CABP4calcium binding protein 4 | Usein (30–79%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Usein (30–79%) | 1 sairaudessa |
| CDHR1cadherin related family member 1 | Usein (30–79%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Usein (30–79%) | 1 sairaudessa |
| CERKLCERK like autophagy regulator | Usein (30–79%) | 1 sairaudessa |
| CFAP20cilia and flagella associated protein 20 | Usein (30–79%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Usein (30–79%) | 1 sairaudessa |
| CLRN1clarin 1 | Usein (30–79%) | 1 sairaudessa |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Usein (30–79%) | 1 sairaudessa |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Usein (30–79%) | 1 sairaudessa |
| COQ8Bcoenzyme Q8B | Usein (30–79%) | 1 sairaudessa |
| CRB1crumbs cell polarity complex component 1 | Usein (30–79%) | 3 sairaudessa |
| CRXcone-rod homeobox | Usein (30–79%) | 3 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Usein (30–79%) | 1 sairaudessa |
| DHX38DEAH-box helicase 38 | Usein (30–79%) | 1 sairaudessa |
| EYSEGF-like photoreceptor maintenance factor | Usein (30–79%) | 1 sairaudessa |
| FAM161AFAM161 centrosomal protein A | Usein (30–79%) | 1 sairaudessa |
| FSCN2fascin actin-bundling protein 2, retinal | Usein (30–79%) | 1 sairaudessa |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Usein (30–79%) | 1 sairaudessa |
| GDF6growth differentiation factor 6 | Usein (30–79%) | 1 sairaudessa |
Näytä 104 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| GUCA1Bguanylate cyclase activator 1B | Usein (30–79%) | 1 sairaudessa |
| GUCY2Dguanylate cyclase 2D, retinal | Usein (30–79%) | 2 sairaudessa |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Usein (30–79%) | 1 sairaudessa |
| HKDC1hexokinase domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| HRASHRas proto-oncogene, GTPase | Usein (30–79%) | 1 sairaudessa |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Usein (30–79%) | 1 sairaudessa |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Usein (30–79%) | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Usein (30–79%) | 2 sairaudessa |
| IFT172intraflagellar transport 172 | Usein (30–79%) | 1 sairaudessa |
| IFT43intraflagellar transport 43 | Usein (30–79%) | 1 sairaudessa |
| IFT88intraflagellar transport 88 | Usein (30–79%) | 1 sairaudessa |
| IMPDH1inosine monophosphate dehydrogenase 1 | Usein (30–79%) | 2 sairaudessa |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Usein (30–79%) | 1 sairaudessa |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Usein (30–79%) | 1 sairaudessa |
| IQCB1IQ motif containing B1 | Usein (30–79%) | 1 sairaudessa |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Usein (30–79%) | 1 sairaudessa |
| KIAA1549KIAA1549 | Usein (30–79%) | 1 sairaudessa |
| KIZkizuna centrosomal protein | Usein (30–79%) | 1 sairaudessa |
| KLHL7kelch like family member 7 | Usein (30–79%) | 1 sairaudessa |
| LCA5lebercilin LCA5 | Usein (30–79%) | 1 sairaudessa |
| LRATlecithin retinol acyltransferase | Usein (30–79%) | 2 sairaudessa |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Usein (30–79%) | 1 sairaudessa |
| MAKmale germ cell associated kinase | Usein (30–79%) | 1 sairaudessa |
| MERTKMER proto-oncogene, tyrosine kinase | Usein (30–79%) | 1 sairaudessa |
| NEK2NIMA related kinase 2 | Usein (30–79%) | 1 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Usein (30–79%) | 2 sairaudessa |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Usein (30–79%) | 1 sairaudessa |
| NRLneural retina leucine zipper | Usein (30–79%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Usein (30–79%) | 1 sairaudessa |
| OTX2orthodenticle homeobox 2 | Usein (30–79%) | 1 sairaudessa |
| PCAREphotoreceptor cilium actin regulator | Usein (30–79%) | 1 sairaudessa |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Usein (30–79%) | 1 sairaudessa |
| PDE6Aphosphodiesterase 6A | Usein (30–79%) | 1 sairaudessa |
| PDE6Bphosphodiesterase 6B | Usein (30–79%) | 1 sairaudessa |
| PDE6Gphosphodiesterase 6G | Usein (30–79%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Usein (30–79%) | 1 sairaudessa |
| PRCDphotoreceptor disc component | Usein (30–79%) | 1 sairaudessa |
| PRDM5PR/SET domain 5 | Usein (30–79%) | 2 sairaudessa |
| PROM1prominin 1 | Usein (30–79%) | 1 sairaudessa |
| PRPF3pre-mRNA processing factor 3 | Usein (30–79%) | 1 sairaudessa |
| PRPF31pre-mRNA processing factor 31 | Usein (30–79%) | 1 sairaudessa |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Usein (30–79%) | 1 sairaudessa |
| PRPF6pre-mRNA processing factor 6 | Usein (30–79%) | 1 sairaudessa |
| PRPF8pre-mRNA processing factor 8 | Usein (30–79%) | 1 sairaudessa |
| PRPH2peripherin 2 | Usein (30–79%) | 2 sairaudessa |
| RBP3retinol binding protein 3 | Usein (30–79%) | 1 sairaudessa |
| RD3RD3 regulator of GUCY2D | Usein (30–79%) | 1 sairaudessa |
| RDH12retinol dehydrogenase 12 | Usein (30–79%) | 2 sairaudessa |
| REEP6receptor accessory protein 6 | Usein (30–79%) | 1 sairaudessa |
| RGRretinal G protein coupled receptor | Usein (30–79%) | 1 sairaudessa |
| RHOrhodopsin | Usein (30–79%) | 1 sairaudessa |
| RLBP1retinaldehyde binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Usein (30–79%) | 1 sairaudessa |
| RNU6-1RNA, U6 small nuclear 1 | Usein (30–79%) | 1 sairaudessa |
| RNU6-2RNA, U6 small nuclear 2 | Usein (30–79%) | 1 sairaudessa |
| RNU6-8RNA, U6 small nuclear 8 | Usein (30–79%) | 1 sairaudessa |
| RNU6-9RNA, U6 small nuclear 9 | Usein (30–79%) | 1 sairaudessa |
| ROM1retinal outer segment membrane protein 1 | Usein (30–79%) | 1 sairaudessa |
| RP1RP1 axonemal microtubule associated | Usein (30–79%) | 1 sairaudessa |
| RP1L1RP1 like 1 | Usein (30–79%) | 1 sairaudessa |
| RP2RP2 activator of ARL3 GTPase | Usein (30–79%) | 1 sairaudessa |
| RP9RP9 pre-mRNA splicing factor | Usein (30–79%) | 1 sairaudessa |
| RPE65retinoid isomerohydrolase RPE65 | Usein (30–79%) | 2 sairaudessa |
| RPGRretinitis pigmentosa GTPase regulator | Usein (30–79%) | 1 sairaudessa |
| RPGRIP1RPGR interacting protein 1 | Usein (30–79%) | 2 sairaudessa |
| SAGS-antigen visual arrestin | Usein (30–79%) | 1 sairaudessa |
| SAXO6stabilizer of axonemal microtubules 6 | Usein (30–79%) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Usein (30–79%) | 1 sairaudessa |
| SEMA4Asemaphorin 4A | Usein (30–79%) | 1 sairaudessa |
| SLC7A14solute carrier family 7 member 14 | Usein (30–79%) | 1 sairaudessa |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Usein (30–79%) | 1 sairaudessa |
| SPATA7spermatogenesis associated 7 | Usein (30–79%) | 2 sairaudessa |
| TMEM216transmembrane protein 216 | Usein (30–79%) | 1 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Usein (30–79%) | 1 sairaudessa |
| TUBTUB bipartite transcription factor | Usein (30–79%) | 1 sairaudessa |
| TUBB4Btubulin beta 4B class IVb | Usein (30–79%) | 1 sairaudessa |
| TULP1TUB like protein 1 | Usein (30–79%) | 2 sairaudessa |
| USH2Ausherin | Usein (30–79%) | 1 sairaudessa |
| USP45ubiquitin specific peptidase 45 | Usein (30–79%) | 1 sairaudessa |
| ZNF408zinc finger protein 408 | Usein (30–79%) | 1 sairaudessa |
| ZNF469zinc finger protein 469 | Usein (30–79%) | 2 sairaudessa |
| ZNF513zinc finger protein 513 | Usein (30–79%) | 1 sairaudessa |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Joskus (5–29%) | 1 sairaudessa |
| GNB5G protein subunit beta 5 | Joskus (5–29%) | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| SLC2A10solute carrier family 2 member 10 | Joskus (5–29%) | 2 sairaudessa |
| ABCA12ATP binding cassette subfamily A member 12 | Harvinainen (1–4 %) | 1 sairaudessa |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Harvinainen (1–4 %) | 1 sairaudessa |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| ASPRV1aspartic peptidase retroviral like 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| COL3A1collagen type III alpha 1 chain | Harvinainen (1–4 %) | 2 sairaudessa |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Harvinainen (1–4 %) | 1 sairaudessa |
| LIPNlipase family member N | Harvinainen (1–4 %) | 1 sairaudessa |
| NIPAL4NIPA like domain containing 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| SULT2B1sulfotransferase family 2B member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TGM1transglutaminase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Ei kirjattu | 1 sairaudessa |
| LMX1BLIM homeobox transcription factor 1 beta | Ei kirjattu | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ei kirjattu | 1 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Ei kirjattu | 1 sairaudessa |
| VSX1visual system homeobox 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa