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Egenskap
Glaucoma
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Sammendrag
- Kroppssystem
- Abnormality of the eye
GlaucomaHP:0000501
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Logg innSpørKom i gangfra 449 $
Read the genes linked to Glaucoma, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test357 gener knyttet til Glaucoma
Endringer i disse genene forårsaker sjeldne tilstander der Glaucoma forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Alltid | I 2 tilstander |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Alltid | I 2 tilstander |
| COL18A1collagen type XVIII alpha 1 chain | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Alltid | I 3 tilstander |
| LIM2lens intrinsic membrane protein 2 | Alltid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Alltid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Alltid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alltid | I 4 tilstander |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 2 tilstander |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 1 tilstand |
| SLC4A4solute carrier family 4 member 4 | Alltid | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Alltid | I 1 tilstand |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Svært ofte (80–99 %) | I 2 tilstander |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Svært ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| B3GLCTbeta 3-glucosyltransferase | Svært ofte (80–99 %) | I 2 tilstander |
| BEST1bestrophin 1 | Svært ofte (80–99 %) | I 3 tilstander |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Svært ofte (80–99 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Svært ofte (80–99 %) | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Svært ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 3 tilstander |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 7 tilstander |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 3 tilstander |
| FKTNfukutin | Svært ofte (80–99 %) | I 4 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Svært ofte (80–99 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Svært ofte (80–99 %) | I 4 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| LTBP2latent transforming growth factor beta binding protein 2 | Svært ofte (80–99 %) | I 3 tilstander |
| MFRPmembrane frizzled-related protein | Svært ofte (80–99 %) | I 1 tilstand |
| MYOCmyocilin | Svært ofte (80–99 %) | I 2 tilstander |
| OTX2orthodenticle homeobox 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Svært ofte (80–99 %) | I 2 tilstander |
| PITX2paired like homeodomain 2 | Svært ofte (80–99 %) | I 3 tilstander |
Vis 317 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 4 tilstander |
| PRSS56serine protease 56 | Svært ofte (80–99 %) | I 1 tilstand |
| RAXretina and anterior neural fold homeobox | Svært ofte (80–99 %) | I 1 tilstand |
| RIGIRNA sensor RIG-I | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| RS1retinoschisin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SIX6SIX homeobox 6 | Svært ofte (80–99 %) | I 2 tilstander |
| SOX2SRY-box transcription factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TEKTEK receptor tyrosine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| TMEM98transmembrane protein 98 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Ofte (30–79 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Ofte (30–79 %) | I 1 tilstand |
| AGKacylglycerol kinase | Ofte (30–79 %) | I 2 tilstander |
| AHI1Abelson helper integration site 1 | Ofte (30–79 %) | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Ofte (30–79 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Ofte (30–79 %) | I 2 tilstander |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Ofte (30–79 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Ofte (30–79 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 2 tilstander |
| ATRATR checkpoint kinase | Ofte (30–79 %) | I 1 tilstand |
| ATRIPATR interacting protein | Ofte (30–79 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 2 tilstander |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 3 tilstander |
| CA4carbonic anhydrase 4 | Ofte (30–79 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ofte (30–79 %) | I 2 tilstander |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 2 tilstander |
| CDH11cadherin 11 | Ofte (30–79 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Ofte (30–79 %) | I 1 tilstand |
| CENPEcentromere protein E | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CEP295centrosomal protein 295 | Ofte (30–79 %) | I 1 tilstand |
| CEP63centrosomal protein 63 | Ofte (30–79 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Ofte (30–79 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ofte (30–79 %) | I 2 tilstander |
| CLRN1clarin 1 | Ofte (30–79 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ofte (30–79 %) | I 3 tilstander |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| COQ8Bcoenzyme Q8B | Ofte (30–79 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Ofte (30–79 %) | I 1 tilstand |
| CRXcone-rod homeobox | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 2 tilstander |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Ofte (30–79 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 2 tilstander |
| EXOSC2exosome component 2 | Ofte (30–79 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Ofte (30–79 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Ofte (30–79 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Ofte (30–79 %) | I 4 tilstander |
| FSCN2fascin actin-bundling protein 2, retinal | Ofte (30–79 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Ofte (30–79 %) | I 1 tilstand |
| FUT8fucosyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| GJB3gap junction protein beta 3 | Ofte (30–79 %) | I 1 tilstand |
| GJB4gap junction protein beta 4 | Ofte (30–79 %) | I 1 tilstand |
| GNAQG protein subunit alpha q | Ofte (30–79 %) | I 2 tilstander |
| GUCA1Bguanylate cyclase activator 1B | Ofte (30–79 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 2 tilstander |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Ofte (30–79 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Ofte (30–79 %) | I 1 tilstand |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| KDSR3-ketodihydrosphingosine reductase | Ofte (30–79 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Ofte (30–79 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Ofte (30–79 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Ofte (30–79 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| MAGmyelin associated glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Ofte (30–79 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NCAPG2non-SMC condensin II complex subunit G2 | Ofte (30–79 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Ofte (30–79 %) | I 3 tilstander |
| NDRG1N-myc downstream regulated 1 | Ofte (30–79 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| NINninein | Ofte (30–79 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| NOS3nitric oxide synthase 3 | Ofte (30–79 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Ofte (30–79 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Ofte (30–79 %) | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Ofte (30–79 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Ofte (30–79 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 2 tilstander |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 1 tilstand |
| PAX6paired box 6 | Ofte (30–79 %) | I 4 tilstander |
| PCAREphotoreceptor cilium actin regulator | Ofte (30–79 %) | I 1 tilstand |
| PCNTpericentrin | Ofte (30–79 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Ofte (30–79 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Ofte (30–79 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Ofte (30–79 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| PLK4polo like kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ofte (30–79 %) | I 2 tilstander |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Ofte (30–79 %) | I 1 tilstand |
| PROM1prominin 1 | Ofte (30–79 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Ofte (30–79 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Ofte (30–79 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Ofte (30–79 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Ofte (30–79 %) | I 1 tilstand |
| PRPH2peripherin 2 | Ofte (30–79 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Ofte (30–79 %) | I 1 tilstand |
| RBP3retinol binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Ofte (30–79 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Ofte (30–79 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Ofte (30–79 %) | I 1 tilstand |
| RHOrhodopsin | Ofte (30–79 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Ofte (30–79 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Ofte (30–79 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Ofte (30–79 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Ofte (30–79 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Ofte (30–79 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Ofte (30–79 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Ofte (30–79 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Ofte (30–79 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Ofte (30–79 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Ofte (30–79 %) | I 2 tilstander |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ofte (30–79 %) | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Ofte (30–79 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Ofte (30–79 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRAIPTRAF interacting protein | Ofte (30–79 %) | I 1 tilstand |
| TRIM44TRIM family member 44 | Ofte (30–79 %) | I 2 tilstander |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Ofte (30–79 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Ofte (30–79 %) | I 1 tilstand |
| USH2Ausherin | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 3 tilstander |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 2 tilstander |
| YARS2tyrosyl-tRNA synthetase 2 | Ofte (30–79 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Ofte (30–79 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Ofte (30–79 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Ofte (30–79 %) | I 2 tilstander |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARSBarylsulfatase B | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BDNFbrain derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Noen ganger (5–29 %) | I 2 tilstander |
| CHD6chromodomain helicase DNA binding protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 3 tilstander |
| CRYBA2crystallin beta A2 | Noen ganger (5–29 %) | I 1 tilstand |
| CRYBB3crystallin beta B3 | Noen ganger (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCNdecorin | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FAM50Afamily with sequence similarity 50 member A | Noen ganger (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| GSNgelsolin | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GZF1GDNF inducible zinc finger protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| HGDhomogentisate 1,2-dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 3 tilstander |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Noen ganger (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 1 tilstand |
| NHSNHS actin remodeling regulator | Noen ganger (5–29 %) | I 2 tilstander |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Noen ganger (5–29 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PRDM5PR/SET domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PRR12proline rich 12 | Noen ganger (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PTCH2patched 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 2 tilstander |
| RAD21RAD21 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOAras homolog family member A | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 3 tilstander |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VCANversican | Noen ganger (5–29 %) | I 2 tilstander |
| VPS35LVPS35 endosomal protein sorting factor like | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Noen ganger (5–29 %) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Sjelden (1–4%) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Sjelden (1–4%) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Sjelden (1–4%) | I 1 tilstand |
| CD247CD247 molecule | Sjelden (1–4%) | I 1 tilstand |
| COL8A2collagen type VIII alpha 2 chain | Sjelden (1–4%) | I 1 tilstand |
| GRHL2grainyhead like transcription factor 2 | Sjelden (1–4%) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Sjelden (1–4%) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Sjelden (1–4%) | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Sjelden (1–4%) | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Sjelden (1–4%) | I 1 tilstand |
| OVOL2ovo like zinc finger 2 | Sjelden (1–4%) | I 2 tilstander |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Sjelden (1–4%) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Sjelden (1–4%) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Sjelden (1–4%) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Sjelden (1–4%) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Sjelden (1–4%) | I 1 tilstand |
| VSX1visual system homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| ZEB1zinc finger E-box binding homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| ATOH7atonal bHLH transcription factor 7 | Ikke registrert | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registrert | I 1 tilstand |
| CHRDL1chordin like 1 | Ikke registrert | I 1 tilstand |
| CRYAAcrystallin alpha A | Ikke registrert | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ikke registrert | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Ikke registrert | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ikke registrert | I 1 tilstand |
| LOXL1lysyl oxidase like 1 | Ikke registrert | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ikke registrert | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registrert | I 1 tilstand |
| TIMP3TIMP metallopeptidase inhibitor 3 | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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