Egenskap
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.
Sammendrag
- Også kalt
- Cloudy lens, Cataracts, Lens opacities, Lens opacity
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Få mitt Genome Test653 gener knyttet til Clouding of the lens of the eye
Endringer i disse genene forårsaker sjeldne tilstander der Clouding of the lens of the eye 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 |
|---|---|---|
| AGKacylglycerol kinase | Alltid | I 2 tilstander |
| AMACRalpha-methylacyl-CoA racemase | Alltid | I 2 tilstander |
| ARL2ARF like GTPase 2 | Alltid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Alltid | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Alltid | I 2 tilstander |
| BCKDKbranched chain keto acid dehydrogenase kinase | Alltid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Alltid | I 2 tilstander |
| COL11A1collagen type XI alpha 1 chain | Alltid | I 4 tilstander |
| COL9A1collagen type IX alpha 1 chain | Alltid | I 2 tilstander |
| COPB1coat protein complex I subunit beta 1 | Alltid | I 1 tilstand |
| CPAMD8C3 and PZP like alpha-2-macroglobulin domain containing 8 | Alltid | I 1 tilstand |
| CRYBA2crystallin beta A2 | Alltid | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Alltid | I 1 tilstand |
| DNMBPdynamin binding protein | Alltid | I 1 tilstand |
| EEDembryonic ectoderm development | Alltid | I 1 tilstand |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Alltid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alltid | I 5 tilstander |
| ERCC5ERCC excision repair 5, endonuclease | Alltid | I 3 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Alltid | I 3 tilstander |
| FAR1fatty acyl-CoA reductase 1 | Alltid | I 2 tilstander |
| FLNAfilamin A | Alltid | I 2 tilstander |
| FOXE3forkhead box E3 | Alltid | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Alltid | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Alltid | I 1 tilstand |
| GSRglutathione-disulfide reductase | Alltid | I 1 tilstand |
| HMX1H6 family homeobox 1 | Alltid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 3 tilstander |
| INPP5Kinositol polyphosphate-5-phosphatase K | Alltid | I 1 tilstand |
| INTS1integrator complex subunit 1 | Alltid | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Alltid | I 3 tilstander |
| LIM2lens intrinsic membrane protein 2 | Alltid | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Alltid | I 2 tilstander |
| LOXL3lysyl oxidase like 3 | Alltid | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 2 tilstander |
| MRPS28mitochondrial ribosomal protein S28 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| MVKmevalonate kinase | Alltid | I 2 tilstander |
Vis 613 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MYMKmyomaker, myoblast fusion factor | Alltid | I 1 tilstand |
| NOP10NOP10 ribonucleoprotein | Alltid | I 2 tilstander |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Alltid | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Alltid | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Alltid | I 4 tilstander |
| PEX3peroxisomal biogenesis factor 3 | Alltid | I 5 tilstander |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Alltid | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Alltid | I 5 tilstander |
| PXDNperoxidasin | Alltid | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Alltid | I 2 tilstander |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Alltid | I 3 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 5 tilstander |
| RBM8ARNA binding motif protein 8A | Alltid | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNH1ribonuclease/angiogenin inhibitor 1 | Alltid | I 1 tilstand |
| SC5Dsterol-C5-desaturase | Alltid | I 2 tilstander |
| SLC25A4solute carrier family 25 member 4 | Alltid | I 3 tilstander |
| SLC4A4solute carrier family 4 member 4 | Alltid | I 1 tilstand |
| SNAPINSNAP associated protein | Alltid | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Alltid | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Alltid | I 3 tilstander |
| UBA5ubiquitin like modifier activating enzyme 5 | Alltid | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Alltid | I 1 tilstand |
| WDR19WD repeat domain 19 | Alltid | I 2 tilstander |
| WRNWRN RecQ like helicase | Alltid | I 2 tilstander |
| XYLT2xylosyltransferase 2 | Alltid | I 2 tilstander |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZNF526zinc finger protein 526 | Alltid | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Svært ofte (80–99 %) | I 4 tilstander |
| ASPHaspartate beta-hydroxylase | Svært ofte (80–99 %) | I 1 tilstand |
| ATOH7atonal bHLH transcription factor 7 | Svært ofte (80–99 %) | I 2 tilstander |
| BCORBCL6 corepressor | Svært ofte (80–99 %) | I 2 tilstander |
| BMP4bone morphogenetic protein 4 | Svært ofte (80–99 %) | I 2 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 2 tilstander |
| BUB3BUB3 mitotic checkpoint protein | Svært ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Svært ofte (80–99 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Svært ofte (80–99 %) | I 3 tilstander |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Svært ofte (80–99 %) | I 2 tilstander |
| COL2A1collagen type II alpha 1 chain | Svært ofte (80–99 %) | I 7 tilstander |
| CRYAAcrystallin alpha A | Svært ofte (80–99 %) | I 2 tilstander |
| CRYBA4crystallin beta A4 | Svært ofte (80–99 %) | I 1 tilstand |
| CRYBB1crystallin beta B1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRYBB2crystallin beta B2 | Svært ofte (80–99 %) | I 1 tilstand |
| CRYGCcrystallin gamma C | Svært ofte (80–99 %) | I 1 tilstand |
| CRYGDcrystallin gamma D | Svært ofte (80–99 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Svært ofte (80–99 %) | I 4 tilstander |
| FTLferritin light chain | Svært ofte (80–99 %) | I 3 tilstander |
| FZD4frizzled class receptor 4 | Svært ofte (80–99 %) | I 3 tilstander |
| GBA2glucosylceramidase beta 2 | Svært ofte (80–99 %) | I 2 tilstander |
| GJA8gap junction protein alpha 8 | Svært ofte (80–99 %) | I 2 tilstander |
| LSSlanosterol synthase | Svært ofte (80–99 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Svært ofte (80–99 %) | I 2 tilstander |
| NAGAalpha-N-acetylgalactosaminidase | Svært ofte (80–99 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Svært ofte (80–99 %) | I 6 tilstander |
| NHSNHS actin remodeling regulator | Svært ofte (80–99 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Svært ofte (80–99 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Svært ofte (80–99 %) | I 2 tilstander |
| P3H2prolyl 3-hydroxylase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PAX6paired box 6 | Svært ofte (80–99 %) | I 6 tilstander |
| PEX7peroxisomal biogenesis factor 7 | Svært ofte (80–99 %) | I 3 tilstander |
| PHYHphytanoyl-CoA 2-hydroxylase | Svært ofte (80–99 %) | I 2 tilstander |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 3 tilstander |
| PTH1Rparathyroid hormone 1 receptor | Svært ofte (80–99 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Svært ofte (80–99 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TBC1D20TBC1 domain family member 20 | Svært ofte (80–99 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Svært ofte (80–99 %) | I 2 tilstander |
| TRIP13thyroid hormone receptor interactor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Svært ofte (80–99 %) | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| ACTBactin beta | Ofte (30–79 %) | I 2 tilstander |
| ADGRV1adhesion G protein-coupled receptor V1 | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstander |
| AIPL1AIP like 1 HSP90 co-chaperone | Ofte (30–79 %) | I 1 tilstand |
| AIREautoimmune regulator | Ofte (30–79 %) | I 2 tilstander |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 2 tilstander |
| ALX1ALX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| COL4A5collagen type IV alpha 5 chain | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 3 tilstander |
| CRXcone-rod homeobox | Ofte (30–79 %) | I 2 tilstander |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 3 tilstander |
| DDB2damage specific DNA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 3 tilstander |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| ESPNespin | Ofte (30–79 %) | I 1 tilstand |
| FASFas cell surface death receptor | Ofte (30–79 %) | I 2 tilstander |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 5 tilstander |
| FBXL4F-box and leucine rich repeat protein 4 | Ofte (30–79 %) | I 1 tilstand |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 2 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstander |
| FKRPfukutin related protein | Ofte (30–79 %) | I 5 tilstander |
| FKTNfukutin | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| GALMgalactose mutarotase | Ofte (30–79 %) | I 2 tilstander |
| GALTgalactose-1-phosphate uridylyltransferase | Ofte (30–79 %) | I 2 tilstander |
| GDF6growth differentiation factor 6 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| GNASGNAS complex locus | Ofte (30–79 %) | I 6 tilstander |
| GSNgelsolin | Ofte (30–79 %) | I 2 tilstander |
| GTF2H5general transcription factor IIH subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 4 tilstander |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 2 tilstander |
| IMPDH1inosine monophosphate dehydrogenase 1 | Ofte (30–79 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ofte (30–79 %) | I 2 tilstander |
| IQCB1IQ motif containing B1 | Ofte (30–79 %) | I 2 tilstander |
| ITPAinosine triphosphatase | Ofte (30–79 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| KDSR3-ketodihydrosphingosine reductase | Ofte (30–79 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 3 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| MYO7Amyosin VIIA | Ofte (30–79 %) | I 2 tilstander |
| NACC1nucleus accumbens associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Ofte (30–79 %) | I 4 tilstander |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Ofte (30–79 %) | I 2 tilstander |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| NOD2nucleotide binding oligomerization domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 3 tilstander |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 3 tilstander |
| PEX12peroxisomal biogenesis factor 12 | Ofte (30–79 %) | I 3 tilstander |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 4 tilstander |
| PEX14peroxisomal biogenesis factor 14 | Ofte (30–79 %) | I 3 tilstander |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 5 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 3 tilstander |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 4 tilstander |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 4 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 3 tilstander |
| PLCG2phospholipase C gamma 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstander |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 4 tilstander |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 4 tilstander |
| PRPH2peripherin 2 | Ofte (30–79 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Ofte (30–79 %) | I 2 tilstander |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 3 tilstander |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| RPE65retinoid isomerohydrolase RPE65 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| TRIM44TRIM family member 44 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ABCA12ATP binding cassette subfamily A member 12 | Noen ganger (5–29 %) | I 2 tilstander |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Noen ganger (5–29 %) | I 2 tilstander |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTSL4ADAMTS like 4 | Noen ganger (5–29 %) | I 2 tilstander |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANO10anoctamin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Noen ganger (5–29 %) | I 1 tilstand |
| APOA1apolipoprotein A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 2 tilstander |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP8A2ATPase phospholipid transporting 8A2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 2 tilstander |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Noen ganger (5–29 %) | I 2 tilstander |
| BRIP1BRCA1 interacting DNA helicase 1 | 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 |
| C4Acomplement C4A (Chido/Rodgers blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Noen ganger (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP164centrosomal protein 164 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 2 tilstander |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| COQ6coenzyme Q6, monooxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 4 tilstander |
| CTC1CST telomere replication complex component 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DACT1dishevelled binding antagonist of beta catenin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 2 tilstander |
| DMPKDM1 protein kinase | Noen ganger (5–29 %) | I 2 tilstander |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DSG4desmoglein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | 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 |
| EPCAMepithelial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FAM111BFAM111 trypsin like peptidase B | Noen ganger (5–29 %) | I 1 tilstand |
| FAM50Afamily with sequence similarity 50 member A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | 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 |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Noen ganger (5–29 %) | I 2 tilstander |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Noen ganger (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Noen ganger (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Noen ganger (5–29 %) | I 2 tilstander |
| IL10interleukin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Noen ganger (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| INVSinversin | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 2 tilstander |
| KIF21Akinesin family member 21A | Noen ganger (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT25keratin 25 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT71keratin 71 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT74keratin 74 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT81keratin 81 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT83keratin 83 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT86keratin 86 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIPHlipase H | Noen ganger (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Noen ganger (5–29 %) | I 1 tilstand |
| LPAR6lysophosphatidic acid receptor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 3 tilstander |
| LTBP2latent transforming growth factor beta binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MED11mediator complex subunit 11 | Noen ganger (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 2 tilstander |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 1 tilstand |
| NEK9NIMA related kinase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| NHP2NHP2 ribonucleoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NPHP3nephrocystin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| OCLNoccludin | Noen ganger (5–29 %) | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Noen ganger (5–29 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Noen ganger (5–29 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Noen ganger (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Noen ganger (5–29 %) | I 4 tilstander |
| POLG2DNA polymerase gamma 2, accessory subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Noen ganger (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Noen ganger (5–29 %) | I 3 tilstander |
| PORCNporcupine O-acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Noen ganger (5–29 %) | I 1 tilstand |
| PRR12proline rich 12 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOAras homolog family member A | Noen ganger (5–29 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Noen ganger (5–29 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | 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 2 tilstander |
| RRP12ribosomal RNA processing 12 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SBF2SET binding factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 2 tilstander |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| SHROOM4shroom family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SIX6SIX homeobox 6 | Noen ganger (5–29 %) | I 2 tilstander |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | 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 |
| SOX2SRY-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 2 tilstander |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | 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 |
| TCOF1treacle ribosome biogenesis factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TERCtelomerase RNA component | Noen ganger (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Noen ganger (5–29 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Noen ganger (5–29 %) | I 2 tilstander |
| TINF2TERF1 interacting nuclear factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Noen ganger (5–29 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TSHZ3teashirt zinc finger homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Noen ganger (5–29 %) | I 2 tilstander |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Noen ganger (5–29 %) | I 4 tilstander |
| TYMSthymidylate synthetase | Noen ganger (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Noen ganger (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 2 tilstander |
| VCPvalosin containing protein | Noen ganger (5–29 %) | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Noen ganger (5–29 %) | I 2 tilstander |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Noen ganger (5–29 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 3 tilstander |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Noen ganger (5–29 %) | I 2 tilstander |
| ALDOBaldolase, fructose-bisphosphate B | Sjelden (1–4%) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Sjelden (1–4%) | I 1 tilstand |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Sjelden (1–4%) | I 1 tilstand |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Sjelden (1–4%) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Sjelden (1–4%) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Sjelden (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjelden (1–4%) | I 1 tilstand |
| ARSLarylsulfatase L | Sjelden (1–4%) | I 2 tilstander |
| ASPRV1aspartic peptidase retroviral like 1 | Sjelden (1–4%) | I 1 tilstand |
| CD247CD247 molecule | Sjelden (1–4%) | I 1 tilstand |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Sjelden (1–4%) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Sjelden (1–4%) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjelden (1–4%) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Sjelden (1–4%) | I 2 tilstander |
| IL2RAinterleukin 2 receptor subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Sjelden (1–4%) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| LIPNlipase family member N | Sjelden (1–4%) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Sjelden (1–4%) | I 1 tilstand |
| NIPAL4NIPA like domain containing 4 | Sjelden (1–4%) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Sjelden (1–4%) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sjelden (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjelden (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Sjelden (1–4%) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Sjelden (1–4%) | I 1 tilstand |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Sjelden (1–4%) | I 1 tilstand |
| SLC25A13solute carrier family 25 member 13 | Sjelden (1–4%) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| SULT2B1sulfotransferase family 2B member 1 | Sjelden (1–4%) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Sjelden (1–4%) | I 2 tilstander |
| TGM1transglutaminase 1 | Sjelden (1–4%) | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registrert | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| CHRDL1chordin like 1 | Ikke registrert | I 1 tilstand |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Ikke registrert | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Ikke registrert | I 1 tilstand |
| COL4A4collagen type IV alpha 4 chain | Ikke registrert | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Ikke registrert | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registrert | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ikke registrert | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ikke registrert | I 1 tilstand |
| FGF5fibroblast growth factor 5 | Ikke registrert | I 1 tilstand |
| FLNBfilamin B | Ikke registrert | I 1 tilstand |
| GFERgrowth factor, augmenter of liver regeneration | Ikke registrert | I 1 tilstand |
| GJB6gap junction protein beta 6 | Ikke registrert | I 1 tilstand |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Ikke registrert | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ikke registrert | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | 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 |
| MAB21L2mab-21 like 2 | Ikke registrert | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Ikke registrert | I 1 tilstand |
| PAHphenylalanine hydroxylase | Ikke registrert | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registrert | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ikke registrert | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registrert | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ikke registrert | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registrert | I 1 tilstand |
| PTHparathyroid hormone | Ikke registrert | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Ikke registrert | I 1 tilstand |
| SLC40A1solute carrier family 40 member 1 | Ikke registrert | I 1 tilstand |
| TDRD7tudor domain containing 7 | Ikke registrert | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Ikke registrert | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registrert | I 1 tilstand |
| VCANversican | Ikke registrert | I 1 tilstand |
| VSX2visual system homeobox 2 | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
| ZNF335zinc finger protein 335 | 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.
Én test. En livstid med svar.
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