Egenskap
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.
Sammendrag
- Også kalt
- Optic nerve atrophy, Optic-nerve degeneration
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Optic atrophy 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 |
|---|---|---|
| ACO2aconitase 2 | Alltid | I 2 tilstander |
| ADAM22ADAM metallopeptidase domain 22 | Alltid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Alltid | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Alltid | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Alltid | I 3 tilstander |
| BORCS8BLOC-1 related complex subunit 8 | Alltid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Alltid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Alltid | I 2 tilstander |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Alltid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 3 tilstander |
| DNMT1DNA methyltransferase 1 | Alltid | I 2 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alltid | I 1 tilstand |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Alltid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alltid | I 2 tilstander |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alltid | I 4 tilstander |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 3 tilstander |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 6 tilstander |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alltid | I 1 tilstand |
| GRNgranulin precursor | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Alltid | I 2 tilstander |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alltid | I 1 tilstand |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Alltid | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Alltid | I 3 tilstander |
| MFN2mitofusin 2 | Alltid | I 4 tilstander |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alltid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Alltid | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Alltid | I 3 tilstander |
| MTPAPmitochondrial poly(A) polymerase | Alltid | I 2 tilstander |
| MTRFRmitochondrial translation release factor in rescue | Alltid | I 4 tilstander |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 1 tilstand |
Vis 612 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| NALCNsodium leak channel, non-selective | Alltid | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Alltid | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Alltid | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alltid | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Alltid | I 3 tilstander |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 6 tilstander |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Alltid | I 3 tilstander |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Alltid | I 1 tilstand |
| PDXKpyridoxal kinase | Alltid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Alltid | I 2 tilstander |
| PLP1proteolipid protein 1 | Alltid | I 4 tilstander |
| POLG2DNA polymerase gamma 2, accessory subunit | Alltid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Alltid | I 2 tilstander |
| PTCD3pentatricopeptide repeat domain 3 | Alltid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alltid | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Alltid | I 2 tilstander |
| RNF170ring finger protein 170 | Alltid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Alltid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Alltid | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Alltid | I 2 tilstander |
| SEC31ASEC31 homolog A, COPII component | Alltid | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Alltid | I 2 tilstander |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| SLC44A1solute carrier family 44 member 1 | Alltid | I 1 tilstand |
| SNAPINSNAP associated protein | Alltid | I 1 tilstand |
| SNX10sorting nexin 10 | Alltid | I 1 tilstand |
| SOSTsclerostin | Alltid | I 4 tilstander |
| SSBP1single stranded DNA binding protein 1 | Alltid | I 1 tilstand |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Alltid | I 2 tilstander |
| SURF1SURF1 cytochrome c oxidase assembly factor | Alltid | I 1 tilstand |
| SV2Asynaptic vesicle glycoprotein 2A | Alltid | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Alltid | I 2 tilstander |
| TFGtrafficking from ER to golgi regulator | Alltid | I 2 tilstander |
| UCHL1ubiquitin C-terminal hydrolase L1 | Alltid | I 2 tilstander |
| YME1L1YME1 like 1 ATPase | Alltid | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Svært ofte (80–99 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Svært ofte (80–99 %) | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Svært ofte (80–99 %) | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Svært ofte (80–99 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Svært ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Svært ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Svært ofte (80–99 %) | I 1 tilstand |
| BEST1bestrophin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Svært ofte (80–99 %) | I 2 tilstander |
| CA4carbonic anhydrase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Svært ofte (80–99 %) | I 2 tilstander |
| CDHR1cadherin related family member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Svært ofte (80–99 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Svært ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Svært ofte (80–99 %) | I 1 tilstand |
| CLRN1clarin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Svært ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 2 tilstander |
| CRXcone-rod homeobox | Svært ofte (80–99 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Svært ofte (80–99 %) | I 2 tilstander |
| DHX38DEAH-box helicase 38 | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 3 tilstander |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 3 tilstander |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 3 tilstander |
| EYSEGF-like photoreceptor maintenance factor | Svært ofte (80–99 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Svært ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 4 tilstander |
| FKTNfukutin | Svært ofte (80–99 %) | I 5 tilstander |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Svært ofte (80–99 %) | I 2 tilstander |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Svært ofte (80–99 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Svært ofte (80–99 %) | I 2 tilstander |
| GUCA1Bguanylate cyclase activator 1B | Svært ofte (80–99 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT172intraflagellar transport 172 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Svært ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Svært ofte (80–99 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Svært ofte (80–99 %) | I 1 tilstand |
| KLC2kinesin light chain 2 | Svært ofte (80–99 %) | I 2 tilstander |
| KLHL7kelch like family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 4 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| LRATlecithin retinol acyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Svært ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Svært ofte (80–99 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Svært ofte (80–99 %) | I 1 tilstand |
| PAX6paired box 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Svært ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 4 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 3 tilstander |
| PEX12peroxisomal biogenesis factor 12 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX14peroxisomal biogenesis factor 14 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 4 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 4 tilstander |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX3peroxisomal biogenesis factor 3 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 5 tilstander |
| PNPLA6patatin like domain 6, lysophospholipase | Svært ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 6 tilstander |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Svært ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Svært ofte (80–99 %) | I 2 tilstander |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 4 tilstander |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 4 tilstander |
| PPIBpeptidylprolyl isomerase B | Svært ofte (80–99 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Svært ofte (80–99 %) | I 1 tilstand |
| PROM1prominin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPH2peripherin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Svært ofte (80–99 %) | I 4 tilstander |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Svært ofte (80–99 %) | I 2 tilstander |
| RBMXRNA binding motif protein X-linked | Svært ofte (80–99 %) | I 2 tilstander |
| RBP3retinol binding protein 3 | Svært ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Svært ofte (80–99 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Svært ofte (80–99 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Svært ofte (80–99 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Svært ofte (80–99 %) | I 1 tilstand |
| RHOrhodopsin | Svært ofte (80–99 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNF216ring finger protein 216 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Svært ofte (80–99 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Svært ofte (80–99 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Svært ofte (80–99 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Svært ofte (80–99 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Svært ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Svært ofte (80–99 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Svært ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Svært ofte (80–99 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Svært ofte (80–99 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Svært ofte (80–99 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Svært ofte (80–99 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Svært ofte (80–99 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| TBC1D20TBC1 domain family member 20 | Svært ofte (80–99 %) | I 2 tilstander |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Svært ofte (80–99 %) | I 2 tilstander |
| TMEM216transmembrane protein 216 | Svært ofte (80–99 %) | I 2 tilstander |
| TNFRSF11ATNF receptor superfamily member 11a | Svært ofte (80–99 %) | I 3 tilstander |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Svært ofte (80–99 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Svært ofte (80–99 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Svært ofte (80–99 %) | I 2 tilstander |
| UBE3Bubiquitin protein ligase E3B | Svært ofte (80–99 %) | I 1 tilstand |
| USH2Ausherin | Svært ofte (80–99 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Svært ofte (80–99 %) | I 2 tilstander |
| WFS1wolframin ER transmembrane glycoprotein | Svært ofte (80–99 %) | I 4 tilstander |
| XPAXPA, DNA damage recognition and repair factor | Svært ofte (80–99 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Svært ofte (80–99 %) | I 1 tilstand |
| XPO1exportin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF592zinc finger protein 592 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Svært ofte (80–99 %) | I 2 tilstander |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstander |
| ASPAaspartoacylase | Ofte (30–79 %) | I 2 tilstander |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| BTDbiotinidase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CLCN7Cl-/H+ antiporter 7 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Ofte (30–79 %) | I 2 tilstander |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 2 tilstander |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| FCSKfucose kinase | Ofte (30–79 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Ofte (30–79 %) | I 2 tilstander |
| FXNfrataxin | Ofte (30–79 %) | I 2 tilstander |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstander |
| GLAgalactosidase alpha | Ofte (30–79 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KCTD7potassium channel tetramerization domain containing 7 | Ofte (30–79 %) | I 2 tilstander |
| KIF1Akinesin family member 1A | Ofte (30–79 %) | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Ofte (30–79 %) | I 2 tilstander |
| MFFmitochondrial fission factor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 2 tilstander |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 3 tilstander |
| MT-CYBmitochondrially encoded cytochrome b | Ofte (30–79 %) | I 3 tilstander |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 4 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 3 tilstander |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 4 tilstander |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Ofte (30–79 %) | I 2 tilstander |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 5 tilstander |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 4 tilstander |
| MT-RNR1mitochondrially encoded 12S rRNA | Ofte (30–79 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 2 tilstander |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 2 tilstander |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 3 tilstander |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 2 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 2 tilstander |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 2 tilstander |
| MTO1mitochondrial tRNA translation optimization 1 | Ofte (30–79 %) | I 2 tilstander |
| NAGAalpha-N-acetylgalactosaminidase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ofte (30–79 %) | I 2 tilstander |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PLK4polo like kinase 4 | Ofte (30–79 %) | I 2 tilstander |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstander |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| PSAPprosaposin | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| 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 tilstander |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ofte (30–79 %) | I 2 tilstander |
| TNFRSF11BTNF receptor superfamily member 11b | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstander |
| TRAPPC12trafficking protein particle complex subunit 12 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 2 tilstander |
| ADA2adenosine deaminase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| AIREautoimmune regulator | Noen ganger (5–29 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | 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 |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 2 tilstander |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 2 tilstander |
| ATXN1ataxin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 2 tilstander |
| BRAT1BRCA1 associated ATM activator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CASRcalcium sensing receptor | 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 |
| CCDC22CCC complex scaffolding subunit CCDC22 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Noen ganger (5–29 %) | I 2 tilstander |
| CHSY1chondroitin sulfate synthase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CYP27A1cytochrome P450 family 27 subfamily A member 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 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Noen ganger (5–29 %) | I 2 tilstander |
| DOCK6dedicator of cytokinesis 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 2 tilstander |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| FHfumarate hydratase | Noen ganger (5–29 %) | I 2 tilstander |
| FRMPD4FERM and PDZ domain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 2 tilstander |
| GMPPAGDP-mannose pyrophosphorylase A | Noen ganger (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | 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 |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Noen ganger (5–29 %) | I 4 tilstander |
| IER3IP1immediate early response 3 interacting protein 1 | 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 |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Noen ganger (5–29 %) | I 2 tilstander |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 2 tilstander |
| KIF7kinesin family member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | 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 1 tilstand |
| LUZP1leucine zipper protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MGPmatrix Gla protein | Noen ganger (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MID2midline 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Noen ganger (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Noen ganger (5–29 %) | I 2 tilstander |
| MOGSmannosyl-oligosaccharide glucosidase | Noen ganger (5–29 %) | I 2 tilstander |
| MPDU1mannose-P-dolichol utilization defect 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 2 tilstander |
| MTORmechanistic target of rapamycin kinase | Noen ganger (5–29 %) | I 1 tilstand |
| MTSS2MTSS I-BAR domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYO5Amyosin VA | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 2 tilstander |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Noen ganger (5–29 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Noen ganger (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Noen ganger (5–29 %) | I 2 tilstander |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Noen ganger (5–29 %) | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Noen ganger (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Noen ganger (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| PMPCBpeptidase, mitochondrial processing subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Noen ganger (5–29 %) | I 3 tilstander |
| PRDM16PR/SET domain 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Noen ganger (5–29 %) | I 2 tilstander |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 3 tilstander |
| RHOAras homolog family member A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | 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 |
| RRM1ribonucleotide reductase catalytic subunit M1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SELENOIselenoprotein I | Noen ganger (5–29 %) | I 1 tilstand |
| SERAC1serine active site containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SH3BP2SH3 domain binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SLC52A2solute carrier family 52 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| SP7Sp7 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Noen ganger (5–29 %) | I 2 tilstander |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 4 tilstander |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TK2thymidine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM222transmembrane protein 222 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Noen ganger (5–29 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | 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 |
| VPS13Bvacuolar protein sorting 13 homolog B | Noen ganger (5–29 %) | I 2 tilstander |
| VPS35LVPS35 endosomal protein sorting factor like | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR45WD repeat domain 45 | Noen ganger (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Noen ganger (5–29 %) | I 2 tilstander |
| YAP1Yes1 associated transcriptional regulator | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Noen ganger (5–29 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Sjelden (1–4%) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Sjelden (1–4%) | I 1 tilstand |
| ACTL6Bactin like 6B | Sjelden (1–4%) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sjelden (1–4%) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sjelden (1–4%) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sjelden (1–4%) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Sjelden (1–4%) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Sjelden (1–4%) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| CLTCclathrin heavy chain | Sjelden (1–4%) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sjelden (1–4%) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sjelden (1–4%) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Sjelden (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| DENND5ADENN domain containing 5A | Sjelden (1–4%) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sjelden (1–4%) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Sjelden (1–4%) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| FBXO28F-box protein 28 | Sjelden (1–4%) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjelden (1–4%) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Sjelden (1–4%) | I 1 tilstand |
| FOXG1forkhead box G1 | Sjelden (1–4%) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Sjelden (1–4%) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sjelden (1–4%) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Sjelden (1–4%) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sjelden (1–4%) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sjelden (1–4%) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sjelden (1–4%) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sjelden (1–4%) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sjelden (1–4%) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sjelden (1–4%) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sjelden (1–4%) | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Sjelden (1–4%) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Sjelden (1–4%) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Sjelden (1–4%) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Sjelden (1–4%) | I 1 tilstand |
| NGLY1N-glycanase 1 | Sjelden (1–4%) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sjelden (1–4%) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sjelden (1–4%) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Sjelden (1–4%) | I 2 tilstander |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 2 tilstander |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sjelden (1–4%) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sjelden (1–4%) | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Sjelden (1–4%) | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Sjelden (1–4%) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Sjelden (1–4%) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Sjelden (1–4%) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Sjelden (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Sjelden (1–4%) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Sjelden (1–4%) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Sjelden (1–4%) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Sjelden (1–4%) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Sjelden (1–4%) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sjelden (1–4%) | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registrert | I 1 tilstand |
| AGXTalanine--glyoxylate aminotransferase | Ikke registrert | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registrert | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registrert | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registrert | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Ikke registrert | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Ikke registrert | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registrert | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Ikke registrert | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ikke registrert | I 1 tilstand |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Ikke registrert | I 1 tilstand |
| MAGmyelin associated glycoprotein | Ikke registrert | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registrert | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registrert | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Ikke registrert | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Ikke registrert | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ikke registrert | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ikke registrert | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ikke registrert | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registrert | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ikke registrert | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| PRICKLE3prickle planar cell polarity protein 3 | Ikke registrert | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registrert | I 1 tilstand |
| RPIAribose 5-phosphate isomerase A | Ikke registrert | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ikke registrert | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ikke registrert | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Ikke registrert | I 1 tilstand |
| TMEM126Atransmembrane protein 126A | Ikke registrert | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Ikke registrert | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ikke registrert | I 1 tilstand |
| TXN2thioredoxin 2 | Ikke registrert | I 1 tilstand |
| VCANversican | Ikke registrert | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | 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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