Træk
Optic atrophy
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Resumé
- Også kaldet
- Optic nerve atrophy, Optic-nerve degeneration
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Optic atrophy, and the rest of your genome, with one test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test652 gener knyttet til Optic atrophy
Ændringer i disse gener forårsager sjældne tilstande, hvor Optic atrophy 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 |
|---|---|---|
| ACO2aconitase 2 | Altid | I 2 tilstande |
| ADAM22ADAM metallopeptidase domain 22 | Altid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Altid | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Altid | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Altid | I 3 tilstande |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Altid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Altid | I 2 tilstande |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altid | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 3 tilstande |
| DNMT1DNA methyltransferase 1 | Altid | I 2 tilstande |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Altid | I 1 tilstand |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Altid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altid | I 2 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altid | I 4 tilstande |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 3 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 6 tilstande |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Altid | I 1 tilstand |
| GRNgranulin precursor | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Altid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Altid | I 2 tilstande |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altid | I 1 tilstand |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Altid | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Altid | I 3 tilstande |
| MFN2mitofusin 2 | Altid | I 4 tilstande |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altid | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altid | I 3 tilstande |
| MTPAPmitochondrial poly(A) polymerase | Altid | I 2 tilstande |
| MTRFRmitochondrial translation release factor in rescue | Altid | I 4 tilstande |
| NADK2NAD kinase 2, mitochondrial | Altid | I 1 tilstand |
Vis 612 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| NALCNsodium leak channel, non-selective | Altid | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Altid | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Altid | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altid | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Altid | I 3 tilstande |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altid | I 6 tilstande |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Altid | I 3 tilstande |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Altid | I 1 tilstand |
| PDXKpyridoxal kinase | Altid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Altid | I 2 tilstande |
| PLP1proteolipid protein 1 | Altid | I 4 tilstande |
| POLG2DNA polymerase gamma 2, accessory subunit | Altid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Altid | I 2 tilstande |
| PTCD3pentatricopeptide repeat domain 3 | Altid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altid | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Altid | I 2 tilstande |
| RNF170ring finger protein 170 | Altid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Altid | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altid | I 2 tilstande |
| SEC31ASEC31 homolog A, COPII component | Altid | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Altid | I 2 tilstande |
| SLC30A9solute carrier family 30 member 9 | Altid | I 1 tilstand |
| SLC44A1solute carrier family 44 member 1 | Altid | I 1 tilstand |
| SNAPINSNAP associated protein | Altid | I 1 tilstand |
| SNX10sorting nexin 10 | Altid | I 1 tilstand |
| SOSTsclerostin | Altid | I 4 tilstande |
| SSBP1single stranded DNA binding protein 1 | Altid | I 1 tilstand |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Altid | I 2 tilstande |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altid | I 1 tilstand |
| SV2Asynaptic vesicle glycoprotein 2A | Altid | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Altid | I 2 tilstande |
| TFGtrafficking from ER to golgi regulator | Altid | I 2 tilstande |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altid | I 2 tilstande |
| YME1L1YME1 like 1 ATPase | Altid | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Meget ofte (80–99 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Meget ofte (80–99 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Meget ofte (80–99 %) | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Meget ofte (80–99 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Meget ofte (80–99 %) | I 1 tilstand |
| BEST1bestrophin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Meget ofte (80–99 %) | I 2 tilstande |
| CA4carbonic anhydrase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Meget ofte (80–99 %) | I 2 tilstande |
| CDHR1cadherin related family member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Meget ofte (80–99 %) | I 1 tilstand |
| CLRN1clarin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Meget ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 2 tilstande |
| CRXcone-rod homeobox | Meget ofte (80–99 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Meget ofte (80–99 %) | I 2 tilstande |
| DHX38DEAH-box helicase 38 | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 3 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 3 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 3 tilstande |
| EYSEGF-like photoreceptor maintenance factor | Meget ofte (80–99 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Meget ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 4 tilstande |
| FKTNfukutin | Meget ofte (80–99 %) | I 5 tilstande |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Meget ofte (80–99 %) | I 2 tilstande |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Meget ofte (80–99 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Meget ofte (80–99 %) | I 2 tilstande |
| GUCA1Bguanylate cyclase activator 1B | Meget ofte (80–99 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Meget ofte (80–99 %) | I 2 tilstande |
| IFT172intraflagellar transport 172 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Meget ofte (80–99 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Meget ofte (80–99 %) | I 1 tilstand |
| KLC2kinesin light chain 2 | Meget ofte (80–99 %) | I 2 tilstande |
| KLHL7kelch like family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 4 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LRATlecithin retinol acyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Meget ofte (80–99 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Meget ofte (80–99 %) | I 1 tilstand |
| PAX6paired box 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 4 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 3 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 4 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 4 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 5 tilstande |
| PNPLA6patatin like domain 6, lysophospholipase | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 6 tilstande |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Meget ofte (80–99 %) | I 2 tilstande |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 4 tilstande |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 4 tilstande |
| PPIBpeptidylprolyl isomerase B | Meget ofte (80–99 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Meget ofte (80–99 %) | I 1 tilstand |
| PROM1prominin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPH2peripherin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Meget ofte (80–99 %) | I 4 tilstande |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RBMXRNA binding motif protein X-linked | Meget ofte (80–99 %) | I 2 tilstande |
| RBP3retinol binding protein 3 | Meget ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Meget ofte (80–99 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Meget ofte (80–99 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Meget ofte (80–99 %) | I 1 tilstand |
| RHOrhodopsin | Meget ofte (80–99 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNF216ring finger protein 216 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Meget ofte (80–99 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Meget ofte (80–99 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Meget ofte (80–99 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Meget ofte (80–99 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Meget ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Meget ofte (80–99 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Meget ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Meget ofte (80–99 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Meget ofte (80–99 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Meget ofte (80–99 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Meget ofte (80–99 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 2 tilstande |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM216transmembrane protein 216 | Meget ofte (80–99 %) | I 2 tilstande |
| TNFRSF11ATNF receptor superfamily member 11a | Meget ofte (80–99 %) | I 3 tilstande |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Meget ofte (80–99 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Meget ofte (80–99 %) | I 2 tilstande |
| UBE3Bubiquitin protein ligase E3B | Meget ofte (80–99 %) | I 1 tilstand |
| USH2Ausherin | Meget ofte (80–99 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Meget ofte (80–99 %) | I 2 tilstande |
| WFS1wolframin ER transmembrane glycoprotein | Meget ofte (80–99 %) | I 4 tilstande |
| XPAXPA, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 1 tilstand |
| XPO1exportin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF592zinc finger protein 592 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Meget ofte (80–99 %) | I 2 tilstande |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstande |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Ofte (30–79 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Ofte (30–79 %) | I 2 tilstande |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstande |
| ASPAaspartoacylase | Ofte (30–79 %) | I 2 tilstande |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ofte (30–79 %) | I 2 tilstande |
| ATG7autophagy related 7 | Ofte (30–79 %) | I 1 tilstand |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Ofte (30–79 %) | I 2 tilstande |
| BTDbiotinidase | Ofte (30–79 %) | I 2 tilstande |
| CASP2caspase 2 | Ofte (30–79 %) | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ofte (30–79 %) | I 2 tilstande |
| CLCN7Cl-/H+ antiporter 7 | Ofte (30–79 %) | I 2 tilstande |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Ofte (30–79 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 2 tilstande |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Ofte (30–79 %) | I 2 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 2 tilstande |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 2 tilstande |
| ELP4elongator acetyltransferase complex subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 4 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstande |
| EXOSC3exosome component 3 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC5exosome component 5 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Ofte (30–79 %) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Ofte (30–79 %) | I 3 tilstande |
| FCSKfucose kinase | Ofte (30–79 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Ofte (30–79 %) | I 2 tilstande |
| FXNfrataxin | Ofte (30–79 %) | I 2 tilstande |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GLAgalactosidase alpha | Ofte (30–79 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 2 tilstande |
| GNAQG protein subunit alpha q | Ofte (30–79 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Ofte (30–79 %) | I 1 tilstand |
| HK1hexokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| INTS8integrator complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 2 tilstande |
| KCTD7potassium channel tetramerization domain containing 7 | Ofte (30–79 %) | I 2 tilstande |
| KIF1Akinesin family member 1A | Ofte (30–79 %) | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Ofte (30–79 %) | I 2 tilstande |
| MFFmitochondrial fission factor | Ofte (30–79 %) | I 2 tilstande |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 6 tilstande |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 2 tilstande |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 3 tilstande |
| MT-CYBmitochondrially encoded cytochrome b | Ofte (30–79 %) | I 3 tilstande |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 4 tilstande |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 3 tilstande |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 4 tilstande |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Ofte (30–79 %) | I 2 tilstande |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 5 tilstande |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 4 tilstande |
| MT-RNR1mitochondrially encoded 12S rRNA | Ofte (30–79 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 2 tilstande |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 2 tilstande |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstande |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 3 tilstande |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 2 tilstande |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 2 tilstande |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 2 tilstande |
| MTO1mitochondrial tRNA translation optimization 1 | Ofte (30–79 %) | I 2 tilstande |
| NAGAalpha-N-acetylgalactosaminidase | Ofte (30–79 %) | I 2 tilstande |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Ofte (30–79 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ofte (30–79 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Ofte (30–79 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Ofte (30–79 %) | I 2 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstande |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 3 tilstande |
| PLK4polo like kinase 4 | Ofte (30–79 %) | I 2 tilstande |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 3 tilstande |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| POLR3KRNA polymerase III subunit K | Ofte (30–79 %) | I 1 tilstand |
| POU3F4POU class 3 homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Ofte (30–79 %) | I 2 tilstande |
| PSAPprosaposin | Ofte (30–79 %) | I 5 tilstande |
| RBL2RB transcriptional corepressor like 2 | Ofte (30–79 %) | I 1 tilstand |
| RFC1replication factor C subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 2 tilstande |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Ofte (30–79 %) | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 3 tilstande |
| SLC6A9solute carrier family 6 member 9 | Ofte (30–79 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ofte (30–79 %) | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Ofte (30–79 %) | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Ofte (30–79 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ofte (30–79 %) | I 2 tilstande |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Ofte (30–79 %) | I 2 tilstande |
| STAMBPSTAM binding protein | Ofte (30–79 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D2BTBC1 domain family member 2B | Ofte (30–79 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 2 tilstande |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 2 tilstande |
| 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 |
| TEFMtranscription elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| THG1LtRNA-histidine guanylyltransferase 1 like | Ofte (30–79 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Ofte (30–79 %) | I 2 tilstande |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ofte (30–79 %) | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ofte (30–79 %) | I 2 tilstande |
| TNFRSF11BTNF receptor superfamily member 11b | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstande |
| TRAPPC12trafficking protein particle complex subunit 12 | Ofte (30–79 %) | I 2 tilstande |
| TUBGCP4tubulin gamma complex component 4 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ofte (30–79 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Ofte (30–79 %) | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstande |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstande |
| VPS53VPS53 subunit of GARP complex | Ofte (30–79 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Nogle gange (5–29 %) | I 2 tilstande |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AIREautoimmune regulator | Nogle gange (5–29 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | 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 |
| ATP6V1AATPase H+ transporting V1 subunit A | Nogle gange (5–29 %) | I 2 tilstande |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 2 tilstande |
| ATXN1ataxin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 2 tilstande |
| BRAT1BRCA1 associated ATM activator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CASRcalcium sensing receptor | 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 |
| CCDC22CCC complex scaffolding subunit CCDC22 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 2 tilstande |
| CHSY1chondroitin sulfate synthase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CYP27A1cytochrome P450 family 27 subfamily A member 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 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Nogle gange (5–29 %) | I 2 tilstande |
| DOCK6dedicator of cytokinesis 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 2 tilstande |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 2 tilstande |
| FRMPD4FERM and PDZ domain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 2 tilstande |
| GMPPAGDP-mannose pyrophosphorylase A | Nogle gange (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | 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 |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nogle gange (5–29 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Nogle gange (5–29 %) | I 4 tilstande |
| IER3IP1immediate early response 3 interacting protein 1 | 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 |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Nogle gange (5–29 %) | I 2 tilstande |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 2 tilstande |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | 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 1 tilstand |
| LUZP1leucine zipper protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MGPmatrix Gla protein | Nogle gange (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MID2midline 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Nogle gange (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Nogle gange (5–29 %) | I 2 tilstande |
| MOGSmannosyl-oligosaccharide glucosidase | Nogle gange (5–29 %) | I 2 tilstande |
| MPDU1mannose-P-dolichol utilization defect 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 2 tilstande |
| MTORmechanistic target of rapamycin kinase | Nogle gange (5–29 %) | I 1 tilstand |
| MTSS2MTSS I-BAR domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYO5Amyosin VA | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 2 tilstande |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Nogle gange (5–29 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Nogle gange (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Nogle gange (5–29 %) | I 2 tilstande |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Nogle gange (5–29 %) | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Nogle gange (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Nogle gange (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PMPCBpeptidase, mitochondrial processing subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Nogle gange (5–29 %) | I 3 tilstande |
| PRDM16PR/SET domain 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Nogle gange (5–29 %) | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 3 tilstande |
| RHOAras homolog family member A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | 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 |
| RRM1ribonucleotide reductase catalytic subunit M1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SELENOIselenoprotein I | Nogle gange (5–29 %) | I 1 tilstand |
| SERAC1serine active site containing 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SH3BP2SH3 domain binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SLC52A2solute carrier family 52 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| SP7Sp7 transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Nogle gange (5–29 %) | I 2 tilstande |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 4 tilstande |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TK2thymidine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM222transmembrane protein 222 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Nogle gange (5–29 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | 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 |
| VPS13Bvacuolar protein sorting 13 homolog B | Nogle gange (5–29 %) | I 2 tilstande |
| VPS35LVPS35 endosomal protein sorting factor like | Nogle gange (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR45WD repeat domain 45 | Nogle gange (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Nogle gange (5–29 %) | I 2 tilstande |
| YAP1Yes1 associated transcriptional regulator | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Nogle gange (5–29 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Sjældent (1–4%) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Sjældent (1–4%) | I 1 tilstand |
| ACTL6Bactin like 6B | Sjældent (1–4%) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sjældent (1–4%) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sjældent (1–4%) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sjældent (1–4%) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Sjældent (1–4%) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Sjældent (1–4%) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| CLTCclathrin heavy chain | Sjældent (1–4%) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sjældent (1–4%) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sjældent (1–4%) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Sjældent (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| DENND5ADENN domain containing 5A | Sjældent (1–4%) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sjældent (1–4%) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Sjældent (1–4%) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| FBXO28F-box protein 28 | Sjældent (1–4%) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjældent (1–4%) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Sjældent (1–4%) | I 1 tilstand |
| FOXG1forkhead box G1 | Sjældent (1–4%) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Sjældent (1–4%) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sjældent (1–4%) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Sjældent (1–4%) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sjældent (1–4%) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sjældent (1–4%) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sjældent (1–4%) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sjældent (1–4%) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sjældent (1–4%) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sjældent (1–4%) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sjældent (1–4%) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sjældent (1–4%) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sjældent (1–4%) | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Sjældent (1–4%) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Sjældent (1–4%) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Sjældent (1–4%) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Sjældent (1–4%) | I 1 tilstand |
| NGLY1N-glycanase 1 | Sjældent (1–4%) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sjældent (1–4%) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sjældent (1–4%) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Sjældent (1–4%) | I 2 tilstande |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 2 tilstande |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sjældent (1–4%) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sjældent (1–4%) | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Sjældent (1–4%) | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Sjældent (1–4%) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Sjældent (1–4%) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Sjældent (1–4%) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Sjældent (1–4%) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Sjældent (1–4%) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Sjældent (1–4%) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Sjældent (1–4%) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Sjældent (1–4%) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sjældent (1–4%) | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registreret | I 1 tilstand |
| AGXTalanine--glyoxylate aminotransferase | Ikke registreret | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registreret | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Ikke registreret | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Ikke registreret | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registreret | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Ikke registreret | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ikke registreret | I 1 tilstand |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Ikke registreret | I 1 tilstand |
| MAGmyelin associated glycoprotein | Ikke registreret | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registreret | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registreret | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Ikke registreret | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Ikke registreret | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ikke registreret | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ikke registreret | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ikke registreret | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| PRICKLE3prickle planar cell polarity protein 3 | Ikke registreret | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registreret | I 1 tilstand |
| RPIAribose 5-phosphate isomerase A | Ikke registreret | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ikke registreret | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ikke registreret | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Ikke registreret | I 1 tilstand |
| TMEM126Atransmembrane protein 126A | Ikke registreret | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Ikke registreret | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ikke registreret | I 1 tilstand |
| TXN2thioredoxin 2 | Ikke registreret | I 1 tilstand |
| VCANversican | Ikke registreret | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | 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.
Snævrere træk
Bredere træk
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