Træk
Glaucoma
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Resumé
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Ændringer i disse gener forårsager sjældne tilstande, hvor Glaucoma ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Altid | I 2 tilstande |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altid | I 2 tilstande |
| COL18A1collagen type XVIII alpha 1 chain | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Altid | I 3 tilstande |
| LIM2lens intrinsic membrane protein 2 | Altid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Altid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Altid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 4 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 2 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 1 tilstand |
| SLC4A4solute carrier family 4 member 4 | Altid | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Altid | I 1 tilstand |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Meget ofte (80–99 %) | I 2 tilstande |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| B3GLCTbeta 3-glucosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| BEST1bestrophin 1 | Meget ofte (80–99 %) | I 3 tilstande |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Meget ofte (80–99 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Meget ofte (80–99 %) | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Meget ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 3 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 7 tilstande |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 3 tilstande |
| FKTNfukutin | Meget ofte (80–99 %) | I 4 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Meget ofte (80–99 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Meget ofte (80–99 %) | I 4 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| LTBP2latent transforming growth factor beta binding protein 2 | Meget ofte (80–99 %) | I 3 tilstande |
| MFRPmembrane frizzled-related protein | Meget ofte (80–99 %) | I 1 tilstand |
| MYOCmyocilin | Meget ofte (80–99 %) | I 2 tilstande |
| OTX2orthodenticle homeobox 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Meget ofte (80–99 %) | I 2 tilstande |
| PITX2paired like homeodomain 2 | Meget ofte (80–99 %) | I 3 tilstande |
Vis 317 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 4 tilstande |
| PRSS56serine protease 56 | Meget ofte (80–99 %) | I 1 tilstand |
| RAXretina and anterior neural fold homeobox | Meget ofte (80–99 %) | I 1 tilstand |
| RIGIRNA sensor RIG-I | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 1 tilstand |
| RS1retinoschisin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SIX6SIX homeobox 6 | Meget ofte (80–99 %) | I 2 tilstande |
| SOX2SRY-box transcription factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TEKTEK receptor tyrosine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM98transmembrane protein 98 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Meget 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 1 tilstand |
| PAX6paired box 6 | Ofte (30–79 %) | I 4 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARSBarylsulfatase B | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BDNFbrain derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Nogle gange (5–29 %) | I 2 tilstande |
| CHD6chromodomain helicase DNA binding protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 3 tilstande |
| CRYBA2crystallin beta A2 | Nogle gange (5–29 %) | I 1 tilstand |
| CRYBB3crystallin beta B3 | Nogle gange (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCNdecorin | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM50Afamily with sequence similarity 50 member A | Nogle gange (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GSNgelsolin | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GZF1GDNF inducible zinc finger protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| HGDhomogentisate 1,2-dioxygenase | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 3 tilstande |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Nogle gange (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NHSNHS actin remodeling regulator | Nogle gange (5–29 %) | I 2 tilstande |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Nogle gange (5–29 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PRDM5PR/SET domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PRR12proline rich 12 | Nogle gange (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PTCH2patched 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 2 tilstande |
| RAD21RAD21 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOAras homolog family member A | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Nogle gange (5–29 %) | I 3 tilstande |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VCANversican | Nogle gange (5–29 %) | I 2 tilstande |
| VPS35LVPS35 endosomal protein sorting factor like | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Nogle gange (5–29 %) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Sjældent (1–4%) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Sjældent (1–4%) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Sjældent (1–4%) | I 1 tilstand |
| CD247CD247 molecule | Sjældent (1–4%) | I 1 tilstand |
| COL8A2collagen type VIII alpha 2 chain | Sjældent (1–4%) | I 1 tilstand |
| GRHL2grainyhead like transcription factor 2 | Sjældent (1–4%) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Sjældent (1–4%) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Sjældent (1–4%) | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Sjældent (1–4%) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Sjældent (1–4%) | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Sjældent (1–4%) | I 1 tilstand |
| OVOL2ovo like zinc finger 2 | Sjældent (1–4%) | I 2 tilstande |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Sjældent (1–4%) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Sjældent (1–4%) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Sjældent (1–4%) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Sjældent (1–4%) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Sjældent (1–4%) | I 1 tilstand |
| VSX1visual system homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| ZEB1zinc finger E-box binding homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| ATOH7atonal bHLH transcription factor 7 | Ikke registreret | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registreret | I 1 tilstand |
| CHRDL1chordin like 1 | Ikke registreret | I 1 tilstand |
| CRYAAcrystallin alpha A | Ikke registreret | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ikke registreret | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Ikke registreret | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ikke registreret | I 1 tilstand |
| LOXL1lysyl oxidase like 1 | Ikke registreret | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ikke registreret | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registreret | I 1 tilstand |
| TIMP3TIMP metallopeptidase inhibitor 3 | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger