Træk
Clouding of the lens of the eye
Klinisk navn: Cataract
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Resumé
- Også kaldet
- Cloudy lens, Cataracts, Lens opacities, Lens opacity
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Clouding of the lens of the eye 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 |
|---|---|---|
| AGKacylglycerol kinase | Altid | I 2 tilstande |
| AMACRalpha-methylacyl-CoA racemase | Altid | I 2 tilstande |
| ARL2ARF like GTPase 2 | Altid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Altid | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Altid | I 2 tilstande |
| BCKDKbranched chain keto acid dehydrogenase kinase | Altid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altid | I 2 tilstande |
| COL11A1collagen type XI alpha 1 chain | Altid | I 4 tilstande |
| COL9A1collagen type IX alpha 1 chain | Altid | I 2 tilstande |
| COPB1coat protein complex I subunit beta 1 | Altid | I 1 tilstand |
| CPAMD8C3 and PZP like alpha-2-macroglobulin domain containing 8 | Altid | I 1 tilstand |
| CRYBA2crystallin beta A2 | Altid | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Altid | I 1 tilstand |
| DNMBPdynamin binding protein | Altid | I 1 tilstand |
| EEDembryonic ectoderm development | Altid | I 1 tilstand |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Altid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altid | I 5 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Altid | I 3 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Altid | I 3 tilstande |
| FAR1fatty acyl-CoA reductase 1 | Altid | I 2 tilstande |
| FLNAfilamin A | Altid | I 2 tilstande |
| FOXE3forkhead box E3 | Altid | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Altid | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Altid | I 1 tilstand |
| GSRglutathione-disulfide reductase | Altid | I 1 tilstand |
| HMX1H6 family homeobox 1 | Altid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altid | I 3 tilstande |
| INPP5Kinositol polyphosphate-5-phosphatase K | Altid | I 1 tilstand |
| INTS1integrator complex subunit 1 | Altid | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Altid | I 3 tilstande |
| LIM2lens intrinsic membrane protein 2 | Altid | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Altid | I 2 tilstande |
| LOXL3lysyl oxidase like 3 | Altid | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altid | I 2 tilstande |
| MRPS28mitochondrial ribosomal protein S28 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MVKmevalonate kinase | Altid | I 2 tilstande |
Vis 613 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MYMKmyomaker, myoblast fusion factor | Altid | I 1 tilstand |
| NOP10NOP10 ribonucleoprotein | Altid | I 2 tilstande |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Altid | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Altid | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Altid | I 4 tilstande |
| PEX3peroxisomal biogenesis factor 3 | Altid | I 5 tilstande |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altid | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Altid | I 5 tilstande |
| PXDNperoxidasin | Altid | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Altid | I 2 tilstande |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Altid | I 3 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 5 tilstande |
| RBM8ARNA binding motif protein 8A | Altid | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNH1ribonuclease/angiogenin inhibitor 1 | Altid | I 1 tilstand |
| SC5Dsterol-C5-desaturase | Altid | I 2 tilstande |
| SLC25A4solute carrier family 25 member 4 | Altid | I 3 tilstande |
| SLC4A4solute carrier family 4 member 4 | Altid | I 1 tilstand |
| SNAPINSNAP associated protein | Altid | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Altid | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Altid | I 3 tilstande |
| UBA5ubiquitin like modifier activating enzyme 5 | Altid | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Altid | I 1 tilstand |
| WDR19WD repeat domain 19 | Altid | I 2 tilstande |
| WRNWRN RecQ like helicase | Altid | I 2 tilstande |
| XYLT2xylosyltransferase 2 | Altid | I 2 tilstande |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| ZNF526zinc finger protein 526 | Altid | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Meget ofte (80–99 %) | I 4 tilstande |
| ASPHaspartate beta-hydroxylase | Meget ofte (80–99 %) | I 1 tilstand |
| ATOH7atonal bHLH transcription factor 7 | Meget ofte (80–99 %) | I 2 tilstande |
| BCORBCL6 corepressor | Meget ofte (80–99 %) | I 2 tilstande |
| BMP4bone morphogenetic protein 4 | Meget ofte (80–99 %) | I 2 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 2 tilstande |
| BUB3BUB3 mitotic checkpoint protein | Meget ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Meget ofte (80–99 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Meget ofte (80–99 %) | I 3 tilstande |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Meget ofte (80–99 %) | I 2 tilstande |
| COL2A1collagen type II alpha 1 chain | Meget ofte (80–99 %) | I 7 tilstande |
| CRYAAcrystallin alpha A | Meget ofte (80–99 %) | I 2 tilstande |
| CRYBA4crystallin beta A4 | Meget ofte (80–99 %) | I 1 tilstand |
| CRYBB1crystallin beta B1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRYBB2crystallin beta B2 | Meget ofte (80–99 %) | I 1 tilstand |
| CRYGCcrystallin gamma C | Meget ofte (80–99 %) | I 1 tilstand |
| CRYGDcrystallin gamma D | Meget ofte (80–99 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Meget ofte (80–99 %) | I 4 tilstande |
| FTLferritin light chain | Meget ofte (80–99 %) | I 3 tilstande |
| FZD4frizzled class receptor 4 | Meget ofte (80–99 %) | I 3 tilstande |
| GBA2glucosylceramidase beta 2 | Meget ofte (80–99 %) | I 2 tilstande |
| GJA8gap junction protein alpha 8 | Meget ofte (80–99 %) | I 2 tilstande |
| LSSlanosterol synthase | Meget ofte (80–99 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Meget ofte (80–99 %) | I 2 tilstande |
| NAGAalpha-N-acetylgalactosaminidase | Meget ofte (80–99 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Meget ofte (80–99 %) | I 6 tilstande |
| NHSNHS actin remodeling regulator | Meget ofte (80–99 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Meget ofte (80–99 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Meget ofte (80–99 %) | I 2 tilstande |
| P3H2prolyl 3-hydroxylase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PAX6paired box 6 | Meget ofte (80–99 %) | I 6 tilstande |
| PEX7peroxisomal biogenesis factor 7 | Meget ofte (80–99 %) | I 3 tilstande |
| PHYHphytanoyl-CoA 2-hydroxylase | Meget ofte (80–99 %) | I 2 tilstande |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 3 tilstande |
| PTH1Rparathyroid hormone 1 receptor | Meget ofte (80–99 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Meget ofte (80–99 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Meget ofte (80–99 %) | I 2 tilstande |
| TRIP13thyroid hormone receptor interactor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| ACTBactin beta | Ofte (30–79 %) | I 2 tilstande |
| ADGRV1adhesion G protein-coupled receptor V1 | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstande |
| AIPL1AIP like 1 HSP90 co-chaperone | Ofte (30–79 %) | I 1 tilstand |
| AIREautoimmune regulator | Ofte (30–79 %) | I 2 tilstande |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 2 tilstande |
| ALX1ALX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 2 tilstande |
| ANO1anoctamin 1 | Ofte (30–79 %) | I 1 tilstand |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Ofte (30–79 %) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Ofte (30–79 %) | I 3 tilstande |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 2 tilstande |
| BDNFbrain derived neurotrophic factor | Ofte (30–79 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| BUD13BUD13 spliceosome associated protein | Ofte (30–79 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 2 tilstande |
| CDH11cadherin 11 | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 4 tilstande |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| COL4A5collagen type IV alpha 5 chain | Ofte (30–79 %) | I 2 tilstande |
| COL4A6collagen type IV alpha 6 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Ofte (30–79 %) | I 2 tilstande |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 3 tilstande |
| CRXcone-rod homeobox | Ofte (30–79 %) | I 2 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 3 tilstande |
| DDB2damage specific DNA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Ofte (30–79 %) | I 3 tilstande |
| DLL4delta like canonical Notch ligand 4 | Ofte (30–79 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 4 tilstande |
| ELP4elongator acetyltransferase complex subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Ofte (30–79 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Ofte (30–79 %) | I 2 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 3 tilstande |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| ESPNespin | Ofte (30–79 %) | I 1 tilstand |
| FASFas cell surface death receptor | Ofte (30–79 %) | I 2 tilstande |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 5 tilstande |
| FBXL4F-box and leucine rich repeat protein 4 | Ofte (30–79 %) | I 1 tilstand |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 2 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| FKRPfukutin related protein | Ofte (30–79 %) | I 5 tilstande |
| FKTNfukutin | Ofte (30–79 %) | I 5 tilstande |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Ofte (30–79 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Ofte (30–79 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Ofte (30–79 %) | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Ofte (30–79 %) | I 1 tilstand |
| GALK1galactokinase 1 | Ofte (30–79 %) | I 2 tilstande |
| GALMgalactose mutarotase | Ofte (30–79 %) | I 2 tilstande |
| GALTgalactose-1-phosphate uridylyltransferase | Ofte (30–79 %) | I 2 tilstande |
| GDF6growth differentiation factor 6 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 4 tilstande |
| GJB3gap junction protein beta 3 | Ofte (30–79 %) | I 1 tilstand |
| GJB4gap junction protein beta 4 | Ofte (30–79 %) | I 1 tilstand |
| GLAgalactosidase alpha | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 6 tilstande |
| GNASGNAS complex locus | Ofte (30–79 %) | I 6 tilstande |
| GSNgelsolin | Ofte (30–79 %) | I 2 tilstande |
| GTF2H5general transcription factor IIH subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 2 tilstande |
| HLA-Amajor histocompatibility complex, class I, A | Ofte (30–79 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 2 tilstande |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 4 tilstande |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 2 tilstande |
| IMPDH1inosine monophosphate dehydrogenase 1 | Ofte (30–79 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ofte (30–79 %) | I 2 tilstande |
| IQCB1IQ motif containing B1 | Ofte (30–79 %) | I 2 tilstande |
| ITPAinosine triphosphatase | Ofte (30–79 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| KDSR3-ketodihydrosphingosine reductase | Ofte (30–79 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 3 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 3 tilstande |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ofte (30–79 %) | I 2 tilstande |
| MAPKAPK5MAPK activated protein kinase 5 | Ofte (30–79 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Ofte (30–79 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 1 tilstand |
| MED27mediator complex subunit 27 | Ofte (30–79 %) | I 1 tilstand |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Ofte (30–79 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Ofte (30–79 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| MYO7Amyosin VIIA | Ofte (30–79 %) | I 2 tilstande |
| NACC1nucleus accumbens associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Ofte (30–79 %) | I 4 tilstande |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Ofte (30–79 %) | I 2 tilstande |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| NOD2nucleotide binding oligomerization domain containing 2 | Ofte (30–79 %) | I 2 tilstande |
| NOTCH1notch receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 1 tilstand |
| OATornithine aminotransferase | Ofte (30–79 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| PCDH15protocadherin related 15 | Ofte (30–79 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Ofte (30–79 %) | I 1 tilstand |
| PDZD7PDZ domain containing 7 | Ofte (30–79 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ofte (30–79 %) | I 4 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 3 tilstande |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 3 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Ofte (30–79 %) | I 3 tilstande |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 4 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Ofte (30–79 %) | I 3 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 5 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 3 tilstande |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 4 tilstande |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 4 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 3 tilstande |
| PLCG2phospholipase C gamma 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 4 tilstande |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 4 tilstande |
| PRPH2peripherin 2 | Ofte (30–79 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Ofte (30–79 %) | I 2 tilstande |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 3 tilstande |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ofte (30–79 %) | I 2 tilstande |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Ofte (30–79 %) | I 1 tilstand |
| RD3RD3 regulator of GUCY2D | Ofte (30–79 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Ofte (30–79 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 2 tilstande |
| RPE65retinoid isomerohydrolase RPE65 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 3 tilstande |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 1 tilstand |
| RRAGCRas related GTP binding C | Ofte (30–79 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Ofte (30–79 %) | I 1 tilstand |
| RTN2reticulon 2 | Ofte (30–79 %) | I 1 tilstand |
| SALL2spalt like transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SLC16A12solute carrier family 16 member 12 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 2 tilstande |
| SMG8SMG8 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Ofte (30–79 %) | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| SPRTNSprT-like N-terminal domain | Ofte (30–79 %) | I 1 tilstand |
| SREBF1sterol regulatory element binding transcription factor 1 | Ofte (30–79 %) | I 2 tilstande |
| STX16syntaxin 16 | Ofte (30–79 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TKTtransketolase | Ofte (30–79 %) | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 3 tilstande |
| TRIM44TRIM family member 44 | Ofte (30–79 %) | I 2 tilstande |
| TUBB4Btubulin beta 4B class IVb | Ofte (30–79 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Ofte (30–79 %) | I 1 tilstand |
| USH1CUSH1 protein network component harmonin | Ofte (30–79 %) | I 1 tilstand |
| USH1GUSH1 protein network component sans | Ofte (30–79 %) | I 1 tilstand |
| USH2Ausherin | Ofte (30–79 %) | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| WHRNwhirlin | Ofte (30–79 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Ofte (30–79 %) | I 2 tilstande |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 2 tilstande |
| XPAXPA, DNA damage recognition and repair factor | Ofte (30–79 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Ofte (30–79 %) | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Ofte (30–79 %) | I 2 tilstande |
| ABCA12ATP binding cassette subfamily A member 12 | Nogle gange (5–29 %) | I 2 tilstande |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Nogle gange (5–29 %) | I 2 tilstande |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL4ADAMTS like 4 | Nogle gange (5–29 %) | I 2 tilstande |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANO10anoctamin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| APOA1apolipoprotein A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 2 tilstande |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 2 tilstande |
| ATP8A2ATPase phospholipid transporting 8A2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Nogle gange (5–29 %) | I 2 tilstande |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Nogle gange (5–29 %) | I 2 tilstande |
| BRIP1BRCA1 interacting DNA helicase 1 | 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 |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Nogle gange (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP164centrosomal protein 164 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 2 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| COQ6coenzyme Q6, monooxygenase | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 4 tilstande |
| CTC1CST telomere replication complex component 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DACT1dishevelled binding antagonist of beta catenin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 2 tilstande |
| DMPKDM1 protein kinase | Nogle gange (5–29 %) | I 2 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DSG4desmoglein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | 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 |
| EPCAMepithelial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM111BFAM111 trypsin like peptidase B | Nogle gange (5–29 %) | I 1 tilstand |
| FAM50Afamily with sequence similarity 50 member A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | 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 |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Nogle gange (5–29 %) | I 2 tilstande |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Nogle gange (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Nogle gange (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nogle gange (5–29 %) | I 2 tilstande |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| INVSinversin | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 2 tilstande |
| KIF21Akinesin family member 21A | Nogle gange (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT25keratin 25 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT71keratin 71 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT74keratin 74 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT81keratin 81 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT83keratin 83 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT86keratin 86 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIPHlipase H | Nogle gange (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Nogle gange (5–29 %) | I 1 tilstand |
| LPAR6lysophosphatidic acid receptor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Nogle gange (5–29 %) | I 3 tilstande |
| LTBP2latent transforming growth factor beta binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MED11mediator complex subunit 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Nogle gange (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 2 tilstande |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 1 tilstand |
| NEK9NIMA related kinase 9 | Nogle gange (5–29 %) | I 1 tilstand |
| NHP2NHP2 ribonucleoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NPHP3nephrocystin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| OCLNoccludin | Nogle gange (5–29 %) | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Nogle gange (5–29 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Nogle gange (5–29 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Nogle gange (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Nogle gange (5–29 %) | I 4 tilstande |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Nogle gange (5–29 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Nogle gange (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Nogle gange (5–29 %) | I 3 tilstande |
| PORCNporcupine O-acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Nogle gange (5–29 %) | I 1 tilstand |
| PRR12proline rich 12 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOAras homolog family member A | Nogle gange (5–29 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Nogle gange (5–29 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | 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 2 tilstande |
| RRP12ribosomal RNA processing 12 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SBF2SET binding factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Nogle gange (5–29 %) | I 2 tilstande |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| SHROOM4shroom family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SIX6SIX homeobox 6 | Nogle gange (5–29 %) | I 2 tilstande |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | 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 |
| SOX2SRY-box transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 2 tilstande |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | 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 |
| TCOF1treacle ribosome biogenesis factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TERCtelomerase RNA component | Nogle gange (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Nogle gange (5–29 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Nogle gange (5–29 %) | I 2 tilstande |
| TINF2TERF1 interacting nuclear factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Nogle gange (5–29 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TSHZ3teashirt zinc finger homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Nogle gange (5–29 %) | I 2 tilstande |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 4 tilstande |
| TYMSthymidylate synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 2 tilstande |
| VCPvalosin containing protein | Nogle gange (5–29 %) | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Nogle gange (5–29 %) | I 2 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Nogle gange (5–29 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Nogle gange (5–29 %) | I 2 tilstande |
| ALDOBaldolase, fructose-bisphosphate B | Sjældent (1–4%) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Sjældent (1–4%) | I 1 tilstand |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Sjældent (1–4%) | I 1 tilstand |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Sjældent (1–4%) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Sjældent (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjældent (1–4%) | I 1 tilstand |
| ARSLarylsulfatase L | Sjældent (1–4%) | I 2 tilstande |
| ASPRV1aspartic peptidase retroviral like 1 | Sjældent (1–4%) | I 1 tilstand |
| CD247CD247 molecule | Sjældent (1–4%) | I 1 tilstand |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Sjældent (1–4%) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Sjældent (1–4%) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjældent (1–4%) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Sjældent (1–4%) | I 2 tilstande |
| IL2RAinterleukin 2 receptor subunit alpha | Sjældent (1–4%) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Sjældent (1–4%) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| LIPNlipase family member N | Sjældent (1–4%) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Sjældent (1–4%) | I 1 tilstand |
| NIPAL4NIPA like domain containing 4 | Sjældent (1–4%) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Sjældent (1–4%) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sjældent (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjældent (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Sjældent (1–4%) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Sjældent (1–4%) | I 1 tilstand |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Sjældent (1–4%) | I 1 tilstand |
| SLC25A13solute carrier family 25 member 13 | Sjældent (1–4%) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| SULT2B1sulfotransferase family 2B member 1 | Sjældent (1–4%) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Sjældent (1–4%) | I 2 tilstande |
| TGM1transglutaminase 1 | Sjældent (1–4%) | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registreret | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Ikke registreret | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| CENPFcentromere protein F | Ikke registreret | I 1 tilstand |
| CHRDL1chordin like 1 | Ikke registreret | I 1 tilstand |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Ikke registreret | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Ikke registreret | I 1 tilstand |
| COL4A4collagen type IV alpha 4 chain | Ikke registreret | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Ikke registreret | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registreret | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ikke registreret | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ikke registreret | I 1 tilstand |
| FGF5fibroblast growth factor 5 | Ikke registreret | I 1 tilstand |
| FLNBfilamin B | Ikke registreret | I 1 tilstand |
| GFERgrowth factor, augmenter of liver regeneration | Ikke registreret | I 1 tilstand |
| GJB6gap junction protein beta 6 | Ikke registreret | I 1 tilstand |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Ikke registreret | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ikke registreret | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | 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 |
| MAB21L2mab-21 like 2 | Ikke registreret | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Ikke registreret | I 1 tilstand |
| PAHphenylalanine hydroxylase | Ikke registreret | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ikke registreret | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registreret | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ikke registreret | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registreret | I 1 tilstand |
| PTHparathyroid hormone | Ikke registreret | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Ikke registreret | I 1 tilstand |
| SLC40A1solute carrier family 40 member 1 | Ikke registreret | I 1 tilstand |
| TDRD7tudor domain containing 7 | Ikke registreret | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Ikke registreret | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registreret | I 1 tilstand |
| VCANversican | Ikke registreret | I 1 tilstand |
| VSX2visual system homeobox 2 | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| ZNF335zinc finger protein 335 | 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