Piirre
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.
Yhteenveto
- Tunnetaan myös nimellä
- Optic nerve atrophy, Optic-nerve degeneration
- Elimistön järjestelmä
- Abnormality of the eye
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Optic atrophy, and the rest of your genome, with one test.
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Tilaa Genome Test652 geeniä, jotka liittyvät piirteeseen Optic atrophy
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Optic atrophy esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ACO2aconitase 2 | Aina | 2 sairaudessa |
| ADAM22ADAM metallopeptidase domain 22 | Aina | 1 sairaudessa |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Aina | 1 sairaudessa |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Aina | 1 sairaudessa |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Aina | 1 sairaudessa |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Aina | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Aina | 3 sairaudessa |
| BORCS8BLOC-1 related complex subunit 8 | Aina | 1 sairaudessa |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Aina | 1 sairaudessa |
| CFAP410cilia and flagella associated protein 410 | Aina | 1 sairaudessa |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Aina | 1 sairaudessa |
| CISD2CDGSH iron sulfur domain 2 | Aina | 2 sairaudessa |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Aina | 1 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Aina | 1 sairaudessa |
| COX6B1cytochrome c oxidase subunit 6B1 | Aina | 1 sairaudessa |
| DNM1Ldynamin 1L | Aina | 3 sairaudessa |
| DNMT1DNA methyltransferase 1 | Aina | 2 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Aina | 1 sairaudessa |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Aina | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Aina | 2 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Aina | 4 sairaudessa |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 3 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Aina | 6 sairaudessa |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Aina | 1 sairaudessa |
| GRNgranulin precursor | Aina | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Aina | 1 sairaudessa |
| HMBShydroxymethylbilane synthase | Aina | 1 sairaudessa |
| INTS11integrator complex subunit 11 | Aina | 1 sairaudessa |
| ISCA2iron-sulfur cluster assembly 2 | Aina | 2 sairaudessa |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Aina | 1 sairaudessa |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Aina | 1 sairaudessa |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Aina | 3 sairaudessa |
| MFN2mitofusin 2 | Aina | 4 sairaudessa |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Aina | 1 sairaudessa |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Aina | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Aina | 3 sairaudessa |
| MTPAPmitochondrial poly(A) polymerase | Aina | 2 sairaudessa |
| MTRFRmitochondrial translation release factor in rescue | Aina | 4 sairaudessa |
| NADK2NAD kinase 2, mitochondrial | Aina | 1 sairaudessa |
Näytä 612 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| NALCNsodium leak channel, non-selective | Aina | 1 sairaudessa |
| NBASNBAS subunit of NRZ tethering complex | Aina | 1 sairaudessa |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Aina | 1 sairaudessa |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Aina | 1 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Aina | 3 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Aina | 6 sairaudessa |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Aina | 3 sairaudessa |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Aina | 1 sairaudessa |
| PDXKpyridoxal kinase | Aina | 1 sairaudessa |
| PLAAphospholipase A2 activating protein | Aina | 2 sairaudessa |
| PLP1proteolipid protein 1 | Aina | 4 sairaudessa |
| POLG2DNA polymerase gamma 2, accessory subunit | Aina | 1 sairaudessa |
| POLR3BRNA polymerase III subunit B | Aina | 2 sairaudessa |
| PTCD3pentatricopeptide repeat domain 3 | Aina | 1 sairaudessa |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Aina | 1 sairaudessa |
| RAB18RAB18, member RAS oncogene family | Aina | 2 sairaudessa |
| RNF170ring finger protein 170 | Aina | 1 sairaudessa |
| SCO1synthesis of cytochrome C oxidase 1 | Aina | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 1 sairaudessa |
| SCYL2SCY1 like pseudokinase 2 | Aina | 1 sairaudessa |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Aina | 2 sairaudessa |
| SEC31ASEC31 homolog A, COPII component | Aina | 1 sairaudessa |
| SLC25A19solute carrier family 25 member 19 | Aina | 2 sairaudessa |
| SLC30A9solute carrier family 30 member 9 | Aina | 1 sairaudessa |
| SLC44A1solute carrier family 44 member 1 | Aina | 1 sairaudessa |
| SNAPINSNAP associated protein | Aina | 1 sairaudessa |
| SNX10sorting nexin 10 | Aina | 1 sairaudessa |
| SOSTsclerostin | Aina | 4 sairaudessa |
| SSBP1single stranded DNA binding protein 1 | Aina | 1 sairaudessa |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Aina | 2 sairaudessa |
| SURF1SURF1 cytochrome c oxidase assembly factor | Aina | 1 sairaudessa |
| SV2Asynaptic vesicle glycoprotein 2A | Aina | 1 sairaudessa |
| TACO1translational activator of cytochrome c oxidase I | Aina | 2 sairaudessa |
| TFGtrafficking from ER to golgi regulator | Aina | 2 sairaudessa |
| UCHL1ubiquitin C-terminal hydrolase L1 | Aina | 2 sairaudessa |
| YME1L1YME1 like 1 ATPase | Aina | 1 sairaudessa |
| ABCA4ATP binding cassette subfamily A member 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| AGBL5AGBL carboxypeptidase 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHI1Abelson helper integration site 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHRaryl hydrocarbon receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL2BPARF like GTPase 2 binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL3ARF like GTPase 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| BCL11ABCL11 transcription factor A | Hyvin usein (80–99%) | 1 sairaudessa |
| BEST1bestrophin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| C19orf12chromosome 19 open reading frame 12 | Hyvin usein (80–99%) | 2 sairaudessa |
| CA4carbonic anhydrase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Hyvin usein (80–99%) | 2 sairaudessa |
| CDHR1cadherin related family member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CERKLCERK like autophagy regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP20cilia and flagella associated protein 20 | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Hyvin usein (80–99%) | 1 sairaudessa |
| CLRN1clarin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| COL4A1collagen type IV alpha 1 chain | Hyvin usein (80–99%) | 1 sairaudessa |
| COQ8Bcoenzyme Q8B | Hyvin usein (80–99%) | 1 sairaudessa |
| CRB1crumbs cell polarity complex component 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Hyvin usein (80–99%) | 2 sairaudessa |
| CRXcone-rod homeobox | Hyvin usein (80–99%) | 1 sairaudessa |
| DAG1dystroglycan 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DDB2damage specific DNA binding protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Hyvin usein (80–99%) | 2 sairaudessa |
| DHX38DEAH-box helicase 38 | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Hyvin usein (80–99%) | 3 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Hyvin usein (80–99%) | 3 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Hyvin usein (80–99%) | 3 sairaudessa |
| EYSEGF-like photoreceptor maintenance factor | Hyvin usein (80–99%) | 1 sairaudessa |
| FAM161AFAM161 centrosomal protein A | Hyvin usein (80–99%) | 1 sairaudessa |
| FKRPfukutin related protein | Hyvin usein (80–99%) | 4 sairaudessa |
| FKTNfukutin | Hyvin usein (80–99%) | 5 sairaudessa |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FSCN2fascin actin-bundling protein 2, retinal | Hyvin usein (80–99%) | 2 sairaudessa |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Hyvin usein (80–99%) | 1 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Hyvin usein (80–99%) | 2 sairaudessa |
| GUCA1Bguanylate cyclase activator 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| HKDC1hexokinase domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Hyvin usein (80–99%) | 2 sairaudessa |
| IFT172intraflagellar transport 172 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT43intraflagellar transport 43 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT88intraflagellar transport 88 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPDH1inosine monophosphate dehydrogenase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIAA1549KIAA1549 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIZkizuna centrosomal protein | Hyvin usein (80–99%) | 1 sairaudessa |
| KLC2kinesin light chain 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| KLHL7kelch like family member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| LRATlecithin retinol acyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| MAKmale germ cell associated kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MERTKMER proto-oncogene, tyrosine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| NEK2NIMA related kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NRLneural retina leucine zipper | Hyvin usein (80–99%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Hyvin usein (80–99%) | 1 sairaudessa |
| PAX6paired box 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PCAREphotoreceptor cilium actin regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Aphosphodiesterase 6A | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Bphosphodiesterase 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Gphosphodiesterase 6G | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| PEX10peroxisomal biogenesis factor 10 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX11Bperoxisomal biogenesis factor 11 beta | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX12peroxisomal biogenesis factor 12 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX13peroxisomal biogenesis factor 13 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX14peroxisomal biogenesis factor 14 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Hyvin usein (80–99%) | 4 sairaudessa |
| PEX19peroxisomal biogenesis factor 19 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX2peroxisomal biogenesis factor 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| PEX26peroxisomal biogenesis factor 26 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX3peroxisomal biogenesis factor 3 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Hyvin usein (80–99%) | 5 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Hyvin usein (80–99%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 6 sairaudessa |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Hyvin usein (80–99%) | 1 sairaudessa |
| POMKprotein O-mannose kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| PPIBpeptidylprolyl isomerase B | Hyvin usein (80–99%) | 1 sairaudessa |
| PRCDphotoreceptor disc component | Hyvin usein (80–99%) | 1 sairaudessa |
| PROM1prominin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF3pre-mRNA processing factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF31pre-mRNA processing factor 31 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF6pre-mRNA processing factor 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF8pre-mRNA processing factor 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPH2peripherin 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| RBMXRNA binding motif protein X-linked | Hyvin usein (80–99%) | 2 sairaudessa |
| RBP3retinol binding protein 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| RDH12retinol dehydrogenase 12 | Hyvin usein (80–99%) | 1 sairaudessa |
| REEP6receptor accessory protein 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| RELREL proto-oncogene, NF-kB subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| RGRretinal G protein coupled receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| RHOrhodopsin | Hyvin usein (80–99%) | 1 sairaudessa |
| RLBP1retinaldehyde binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNF216ring finger protein 216 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-1RNA, U6 small nuclear 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-2RNA, U6 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-8RNA, U6 small nuclear 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-9RNA, U6 small nuclear 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| ROM1retinal outer segment membrane protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RP1RP1 axonemal microtubule associated | Hyvin usein (80–99%) | 1 sairaudessa |
| RP1L1RP1 like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RP2RP2 activator of ARL3 GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| RP9RP9 pre-mRNA splicing factor | Hyvin usein (80–99%) | 1 sairaudessa |
| RPE65retinoid isomerohydrolase RPE65 | Hyvin usein (80–99%) | 1 sairaudessa |
| RPGRretinitis pigmentosa GTPase regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| RXYLT1ribitol xylosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SAGS-antigen visual arrestin | Hyvin usein (80–99%) | 1 sairaudessa |
| SAXO6stabilizer of axonemal microtubules 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Hyvin usein (80–99%) | 1 sairaudessa |
| SEMA4Asemaphorin 4A | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC29A3solute carrier family 29 member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC7A14solute carrier family 7 member 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPATA7spermatogenesis associated 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| SRD5A3steroid 5 alpha-reductase 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| TBC1D20TBC1 domain family member 20 | Hyvin usein (80–99%) | 2 sairaudessa |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Hyvin usein (80–99%) | 2 sairaudessa |
| TMEM216transmembrane protein 216 | Hyvin usein (80–99%) | 2 sairaudessa |
| TNFRSF11ATNF receptor superfamily member 11a | Hyvin usein (80–99%) | 3 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Hyvin usein (80–99%) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| TUBTUB bipartite transcription factor | Hyvin usein (80–99%) | 1 sairaudessa |
| TULP1TUB like protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TWNKtwinkle mtDNA helicase | Hyvin usein (80–99%) | 2 sairaudessa |
| UBE3Bubiquitin protein ligase E3B | Hyvin usein (80–99%) | 1 sairaudessa |
| USH2Ausherin | Hyvin usein (80–99%) | 1 sairaudessa |
| WDR73WD repeat domain 73 | Hyvin usein (80–99%) | 2 sairaudessa |
| WFS1wolframin ER transmembrane glycoprotein | Hyvin usein (80–99%) | 4 sairaudessa |
| XPAXPA, DNA damage recognition and repair factor | Hyvin usein (80–99%) | 1 sairaudessa |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Hyvin usein (80–99%) | 1 sairaudessa |
| XPO1exportin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF408zinc finger protein 408 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF513zinc finger protein 513 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF592zinc finger protein 592 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNHIT3zinc finger HIT-type containing 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| ACOX1acyl-CoA oxidase 1 | Usein (30–79%) | 2 sairaudessa |
| ADARadenosine deaminase RNA specific | Usein (30–79%) | 1 sairaudessa |
| AFF4ALF transcription elongation factor 4 | Usein (30–79%) | 1 sairaudessa |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Usein (30–79%) | 1 sairaudessa |
| AMPD2adenosine monophosphate deaminase 2 | Usein (30–79%) | 1 sairaudessa |
| ANKHANKH inorganic pyrophosphate transport regulator | Usein (30–79%) | 1 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Usein (30–79%) | 2 sairaudessa |
| ARSAarylsulfatase A | Usein (30–79%) | 4 sairaudessa |
| ASPAaspartoacylase | Usein (30–79%) | 2 sairaudessa |
| ASXL1ASXL transcriptional regulator 1 | Usein (30–79%) | 1 sairaudessa |
| ATAD3AATPase family AAA domain containing 3A | Usein (30–79%) | 2 sairaudessa |
| ATG7autophagy related 7 | Usein (30–79%) | 1 sairaudessa |
| ATXN7ataxin 7 | Usein (30–79%) | 1 sairaudessa |
| B9D1B9 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| B9D2B9 domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| BCAP31B cell receptor associated protein 31 | Usein (30–79%) | 2 sairaudessa |
| BTDbiotinidase | Usein (30–79%) | 2 sairaudessa |
| CASP2caspase 2 | Usein (30–79%) | 1 sairaudessa |
| CCT3chaperonin containing TCP1 subunit 3 | Usein (30–79%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Usein (30–79%) | 1 sairaudessa |
| CHD7chromodomain helicase DNA binding protein 7 | Usein (30–79%) | 1 sairaudessa |
| CKAP2Lcytoskeleton associated protein 2L | Usein (30–79%) | 2 sairaudessa |
| CLCN7Cl-/H+ antiporter 7 | Usein (30–79%) | 2 sairaudessa |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Usein (30–79%) | 1 sairaudessa |
| COA8cytochrome c oxidase assembly factor 8 | Usein (30–79%) | 1 sairaudessa |
| CPLX1complexin 1 | Usein (30–79%) | 1 sairaudessa |
| CSPP1centrosome and spindle pole associated protein 1 | Usein (30–79%) | 2 sairaudessa |
| CTBP1C-terminal binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| DIAPH1diaphanous related formin 1 | Usein (30–79%) | 2 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Usein (30–79%) | 1 sairaudessa |
| DNM1dynamin 1 | Usein (30–79%) | 2 sairaudessa |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Usein (30–79%) | 2 sairaudessa |
| ELP4elongator acetyltransferase complex subunit 4 | Usein (30–79%) | 1 sairaudessa |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Usein (30–79%) | 4 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Usein (30–79%) | 2 sairaudessa |
| EXOSC3exosome component 3 | Usein (30–79%) | 1 sairaudessa |
| EXOSC5exosome component 5 | Usein (30–79%) | 1 sairaudessa |
| EXOSC8exosome component 8 | Usein (30–79%) | 1 sairaudessa |
| EXOSC9exosome component 9 | Usein (30–79%) | 1 sairaudessa |
| FA2Hfatty acid 2-hydroxylase | Usein (30–79%) | 3 sairaudessa |
| FCSKfucose kinase | Usein (30–79%) | 1 sairaudessa |
| FLVCR1FLVCR choline and heme transporter 1 | Usein (30–79%) | 2 sairaudessa |
| FXNfrataxin | Usein (30–79%) | 2 sairaudessa |
| GEMIN4gem nuclear organelle associated protein 4 | Usein (30–79%) | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Usein (30–79%) | 2 sairaudessa |
| GLAgalactosidase alpha | Usein (30–79%) | 1 sairaudessa |
| GLRX5glutaredoxin 5 | Usein (30–79%) | 2 sairaudessa |
| GNAQG protein subunit alpha q | Usein (30–79%) | 1 sairaudessa |
| HIKESHIheat shock protein nuclear import factor hikeshi | Usein (30–79%) | 1 sairaudessa |
| HK1hexokinase 1 | Usein (30–79%) | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| INTS8integrator complex subunit 8 | Usein (30–79%) | 1 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Usein (30–79%) | 2 sairaudessa |
| KCTD7potassium channel tetramerization domain containing 7 | Usein (30–79%) | 2 sairaudessa |
| KIF1Akinesin family member 1A | Usein (30–79%) | 1 sairaudessa |
| LAMB1laminin subunit beta 1 | Usein (30–79%) | 2 sairaudessa |
| MFFmitochondrial fission factor | Usein (30–79%) | 2 sairaudessa |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Usein (30–79%) | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| MMACHCmetabolism of cobalamin associated C | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 6 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Usein (30–79%) | 2 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Usein (30–79%) | 3 sairaudessa |
| MT-CYBmitochondrially encoded cytochrome b | Usein (30–79%) | 3 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Usein (30–79%) | 4 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Usein (30–79%) | 3 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Usein (30–79%) | 4 sairaudessa |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Usein (30–79%) | 2 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Usein (30–79%) | 5 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Usein (30–79%) | 4 sairaudessa |
| MT-RNR1mitochondrially encoded 12S rRNA | Usein (30–79%) | 1 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Usein (30–79%) | 2 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Usein (30–79%) | 2 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Usein (30–79%) | 2 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Usein (30–79%) | 3 sairaudessa |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Usein (30–79%) | 1 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Usein (30–79%) | 2 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Usein (30–79%) | 2 sairaudessa |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Usein (30–79%) | 2 sairaudessa |
| MTO1mitochondrial tRNA translation optimization 1 | Usein (30–79%) | 2 sairaudessa |
| NAGAalpha-N-acetylgalactosaminidase | Usein (30–79%) | 2 sairaudessa |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Usein (30–79%) | 1 sairaudessa |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Usein (30–79%) | 1 sairaudessa |
| NELFAnegative elongation factor complex member A | Usein (30–79%) | 1 sairaudessa |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Usein (30–79%) | 2 sairaudessa |
| NSD2nuclear receptor binding SET domain protein 2 | Usein (30–79%) | 1 sairaudessa |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Usein (30–79%) | 2 sairaudessa |
| NUP54nucleoporin 54 | Usein (30–79%) | 1 sairaudessa |
| NUP62nucleoporin 62 | Usein (30–79%) | 2 sairaudessa |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Usein (30–79%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Usein (30–79%) | 1 sairaudessa |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Usein (30–79%) | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Usein (30–79%) | 3 sairaudessa |
| PLK4polo like kinase 4 | Usein (30–79%) | 2 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Usein (30–79%) | 2 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Usein (30–79%) | 3 sairaudessa |
| POLR1ARNA polymerase I subunit A | Usein (30–79%) | 1 sairaudessa |
| POLR3KRNA polymerase III subunit K | Usein (30–79%) | 1 sairaudessa |
| POU3F4POU class 3 homeobox 4 | Usein (30–79%) | 1 sairaudessa |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Usein (30–79%) | 1 sairaudessa |
| PRUNE1prune exopolyphosphatase 1 | Usein (30–79%) | 2 sairaudessa |
| PSAPprosaposin | Usein (30–79%) | 5 sairaudessa |
| RBL2RB transcriptional corepressor like 2 | Usein (30–79%) | 1 sairaudessa |
| RFC1replication factor C subunit 1 | Usein (30–79%) | 1 sairaudessa |
| RPGRIP1RPGR interacting protein 1 | Usein (30–79%) | 2 sairaudessa |
| RPGRIP1LRPGRIP1 like | Usein (30–79%) | 1 sairaudessa |
| RSPO2R-spondin 2 | Usein (30–79%) | 1 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| SEMA3Esemaphorin 3E | Usein (30–79%) | 1 sairaudessa |
| SLC19A2solute carrier family 19 member 2 | Usein (30–79%) | 2 sairaudessa |
| SLC25A46solute carrier family 25 member 46 | Usein (30–79%) | 3 sairaudessa |
| SLC6A9solute carrier family 6 member 9 | Usein (30–79%) | 1 sairaudessa |
| SMOC1SPARC related modular calcium binding 1 | Usein (30–79%) | 1 sairaudessa |
| SNAP29synaptosome associated protein 29 | Usein (30–79%) | 1 sairaudessa |
| SNF8SNF8 subunit of ESCRT-II | Usein (30–79%) | 1 sairaudessa |
| SOX5SRY-box transcription factor 5 | Usein (30–79%) | 2 sairaudessa |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Usein (30–79%) | 2 sairaudessa |
| STAMBPSTAM binding protein | Usein (30–79%) | 1 sairaudessa |
| SUMF1sulfatase modifying factor 1 | Usein (30–79%) | 1 sairaudessa |
| TBC1D2BTBC1 domain family member 2B | Usein (30–79%) | 1 sairaudessa |
| TBCDtubulin folding cofactor D | Usein (30–79%) | 2 sairaudessa |
| TBCEtubulin folding cofactor E | Usein (30–79%) | 2 sairaudessa |
| TBX4T-box transcription factor 4 | Usein (30–79%) | 1 sairaudessa |
| TCTN1tectonic family member 1 | Usein (30–79%) | 1 sairaudessa |
| TCTN2tectonic family member 2 | Usein (30–79%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Usein (30–79%) | 1 sairaudessa |
| TEFMtranscription elongation factor, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| THG1LtRNA-histidine guanylyltransferase 1 like | Usein (30–79%) | 1 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Usein (30–79%) | 2 sairaudessa |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Usein (30–79%) | 1 sairaudessa |
| TMEM107transmembrane protein 107 | Usein (30–79%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Usein (30–79%) | 1 sairaudessa |
| TMEM237transmembrane protein 237 | Usein (30–79%) | 2 sairaudessa |
| TMEM67transmembrane protein 67 | Usein (30–79%) | 1 sairaudessa |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Usein (30–79%) | 2 sairaudessa |
| TNFRSF11BTNF receptor superfamily member 11b | Usein (30–79%) | 1 sairaudessa |
| TOE1target of EGR1, exonuclease | Usein (30–79%) | 2 sairaudessa |
| TRAPPC12trafficking protein particle complex subunit 12 | Usein (30–79%) | 2 sairaudessa |
| TUBGCP4tubulin gamma complex component 4 | Usein (30–79%) | 1 sairaudessa |
| TUBGCP6tubulin gamma complex component 6 | Usein (30–79%) | 1 sairaudessa |
| TXNDC15thioredoxin domain containing 15 | Usein (30–79%) | 1 sairaudessa |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Usein (30–79%) | 2 sairaudessa |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Usein (30–79%) | 2 sairaudessa |
| VPS53VPS53 subunit of GARP complex | Usein (30–79%) | 1 sairaudessa |
| VRK1VRK serine/threonine kinase 1 | Usein (30–79%) | 1 sairaudessa |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Usein (30–79%) | 1 sairaudessa |
| WNT3Wnt family member 3 | Usein (30–79%) | 1 sairaudessa |
| AAASaladin WD repeat nucleoporin | Joskus (5–29%) | 2 sairaudessa |
| ADA2adenosine deaminase 2 | Joskus (5–29%) | 1 sairaudessa |
| AIREautoimmune regulator | Joskus (5–29%) | 1 sairaudessa |
| AKT3AKT serine/threonine kinase 3 | Joskus (5–29%) | 1 sairaudessa |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Joskus (5–29%) | 1 sairaudessa |
| ARVCFARVCF delta catenin family member | Joskus (5–29%) | 1 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| ATP5F1DATP synthase F1 subunit delta | Joskus (5–29%) | 1 sairaudessa |
| ATP5F1EATP synthase F1 subunit epsilon | Joskus (5–29%) | 1 sairaudessa |
| ATP5MKATP synthase membrane subunit k | Joskus (5–29%) | 1 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Joskus (5–29%) | 2 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Joskus (5–29%) | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Joskus (5–29%) | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Joskus (5–29%) | 2 sairaudessa |
| ATXN1ataxin 1 | Joskus (5–29%) | 2 sairaudessa |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Joskus (5–29%) | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| BOLA3bolA family member 3 | Joskus (5–29%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Joskus (5–29%) | 2 sairaudessa |
| BRAT1BRCA1 associated ATM activator 1 | Joskus (5–29%) | 1 sairaudessa |
| CA2carbonic anhydrase 2 | Joskus (5–29%) | 1 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Joskus (5–29%) | 1 sairaudessa |
| CASRcalcium sensing receptor | Joskus (5–29%) | 1 sairaudessa |
| CASZ1castor zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| CBScystathionine beta-synthase | Joskus (5–29%) | 1 sairaudessa |
| CCDC22CCC complex scaffolding subunit CCDC22 | Joskus (5–29%) | 1 sairaudessa |
| CDC42cell division cycle 42 | Joskus (5–29%) | 2 sairaudessa |
| CHSY1chondroitin sulfate synthase 1 | Joskus (5–29%) | 2 sairaudessa |
| CLCN3Cl-/H+ antiporter 3 | Joskus (5–29%) | 1 sairaudessa |
| CNOT3CCR4-NOT transcription complex subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| COG6component of oligomeric golgi complex 6 | Joskus (5–29%) | 1 sairaudessa |
| COMTcatechol-O-methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| CPSF3cleavage and polyadenylation specific factor 3 | Joskus (5–29%) | 1 sairaudessa |
| CSF1Rcolony stimulating factor 1 receptor | Joskus (5–29%) | 1 sairaudessa |
| CTNNB1catenin beta 1 | Joskus (5–29%) | 2 sairaudessa |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Joskus (5–29%) | 1 sairaudessa |
| DGUOKdeoxyguanosine kinase | Joskus (5–29%) | 1 sairaudessa |
| DHCR77-dehydrocholesterol reductase | Joskus (5–29%) | 1 sairaudessa |
| DNA2DNA replication helicase/nuclease 2 | Joskus (5–29%) | 1 sairaudessa |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Joskus (5–29%) | 2 sairaudessa |
| DOCK6dedicator of cytokinesis 6 | Joskus (5–29%) | 1 sairaudessa |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Joskus (5–29%) | 2 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Joskus (5–29%) | 1 sairaudessa |
| ELP1elongator acetyltransferase complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| EMC1ER membrane protein complex subunit 1 | Joskus (5–29%) | 2 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Joskus (5–29%) | 1 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Joskus (5–29%) | 2 sairaudessa |
| FHfumarate hydratase | Joskus (5–29%) | 2 sairaudessa |
| FRMPD4FERM and PDZ domain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Joskus (5–29%) | 1 sairaudessa |
| GALCgalactosylceramidase | Joskus (5–29%) | 2 sairaudessa |
| GMPPAGDP-mannose pyrophosphorylase A | Joskus (5–29%) | 1 sairaudessa |
| GNA11G protein subunit alpha 11 | Joskus (5–29%) | 1 sairaudessa |
| GP1BBglycoprotein Ib platelet subunit beta | Joskus (5–29%) | 1 sairaudessa |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Joskus (5–29%) | 2 sairaudessa |
| HIRAhistone cell cycle regulator | Joskus (5–29%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Joskus (5–29%) | 1 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Joskus (5–29%) | 1 sairaudessa |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Joskus (5–29%) | 2 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Joskus (5–29%) | 1 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Joskus (5–29%) | 4 sairaudessa |
| IER3IP1immediate early response 3 interacting protein 1 | Joskus (5–29%) | 1 sairaudessa |
| JMJD1Cjumonji domain containing 1C | Joskus (5–29%) | 1 sairaudessa |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Joskus (5–29%) | 2 sairaudessa |
| KIF11kinesin family member 11 | Joskus (5–29%) | 2 sairaudessa |
| KIF7kinesin family member 7 | Joskus (5–29%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| LRP4LDL receptor related protein 4 | Joskus (5–29%) | 1 sairaudessa |
| LRP5LDL receptor related protein 5 | Joskus (5–29%) | 1 sairaudessa |
| LUZP1leucine zipper protein 1 | Joskus (5–29%) | 1 sairaudessa |
| LZTR1leucine zipper like post translational regulator 1 | Joskus (5–29%) | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| MGPmatrix Gla protein | Joskus (5–29%) | 1 sairaudessa |
| MICU1mitochondrial calcium uptake 1 | Joskus (5–29%) | 2 sairaudessa |
| MID2midline 2 | Joskus (5–29%) | 1 sairaudessa |
| MMP23Bmatrix metallopeptidase 23B | Joskus (5–29%) | 1 sairaudessa |
| MMUTmethylmalonyl-CoA mutase | Joskus (5–29%) | 2 sairaudessa |
| MOGSmannosyl-oligosaccharide glucosidase | Joskus (5–29%) | 2 sairaudessa |
| MPDU1mannose-P-dolichol utilization defect 1 | Joskus (5–29%) | 2 sairaudessa |
| MPLKIPM-phase specific PLK1 interacting protein | Joskus (5–29%) | 1 sairaudessa |
| MRPS34mitochondrial ribosomal protein S34 | Joskus (5–29%) | 1 sairaudessa |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Joskus (5–29%) | 1 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Joskus (5–29%) | 1 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Joskus (5–29%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Joskus (5–29%) | 2 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Joskus (5–29%) | 1 sairaudessa |
| MTSS2MTSS I-BAR domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| MYO5Amyosin VA | Joskus (5–29%) | 1 sairaudessa |
| NDPnorrin cystine knot growth factor NDP | Joskus (5–29%) | 2 sairaudessa |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Joskus (5–29%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Joskus (5–29%) | 2 sairaudessa |
| NFIXnuclear factor I X | Joskus (5–29%) | 1 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Joskus (5–29%) | 1 sairaudessa |
| NLRP3NLR family pyrin domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| NOTCH2NLCnotch 2 N-terminal like C | Joskus (5–29%) | 1 sairaudessa |
| NRCAMneuronal cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| NT5C25'-nucleotidase, cytosolic II | Joskus (5–29%) | 2 sairaudessa |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| PCLOpiccolo presynaptic cytomatrix protein | Joskus (5–29%) | 1 sairaudessa |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Joskus (5–29%) | 1 sairaudessa |
| PDPNpodoplanin | Joskus (5–29%) | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Joskus (5–29%) | 1 sairaudessa |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Joskus (5–29%) | 1 sairaudessa |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Joskus (5–29%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Joskus (5–29%) | 2 sairaudessa |
| PMPCBpeptidase, mitochondrial processing subunit beta | Joskus (5–29%) | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Joskus (5–29%) | 3 sairaudessa |
| PRDM16PR/SET domain 16 | Joskus (5–29%) | 1 sairaudessa |
| PRKCZprotein kinase C zeta | Joskus (5–29%) | 1 sairaudessa |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Joskus (5–29%) | 1 sairaudessa |
| RAB11BRAB11B, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RBM10RNA binding motif protein 10 | Joskus (5–29%) | 2 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Joskus (5–29%) | 3 sairaudessa |
| RHOAras homolog family member A | Joskus (5–29%) | 1 sairaudessa |
| RNU7-1RNA, U7 small nuclear 1 | Joskus (5–29%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Joskus (5–29%) | 1 sairaudessa |
| RREB1ras responsive element binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| RRM1ribonucleotide reductase catalytic subunit M1 | Joskus (5–29%) | 1 sairaudessa |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Joskus (5–29%) | 1 sairaudessa |
| SARDHsarcosine dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| SBF2SET binding factor 2 | Joskus (5–29%) | 1 sairaudessa |
| SEC23ASEC23 homolog A, COPII component | Joskus (5–29%) | 1 sairaudessa |
| SEC24CSEC24 homolog C, COPII component | Joskus (5–29%) | 1 sairaudessa |
| SELENOIselenoprotein I | Joskus (5–29%) | 1 sairaudessa |
| SERAC1serine active site containing 1 | Joskus (5–29%) | 2 sairaudessa |
| SH3BP2SH3 domain binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| SIL1SIL1 nucleotide exchange factor | Joskus (5–29%) | 1 sairaudessa |
| SKISKI proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SLC52A2solute carrier family 52 member 2 | Joskus (5–29%) | 1 sairaudessa |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| SONSON DNA and RNA binding protein | Joskus (5–29%) | 2 sairaudessa |
| SP7Sp7 transcription factor | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| TANGO2transport and golgi organization 2 homolog | Joskus (5–29%) | 2 sairaudessa |
| TBC1D24TBC1 domain family member 24 | Joskus (5–29%) | 4 sairaudessa |
| TBX1T-box transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| TGFB1transforming growth factor beta 1 | Joskus (5–29%) | 1 sairaudessa |
| TK2thymidine kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| TMEM222transmembrane protein 222 | Joskus (5–29%) | 1 sairaudessa |
| TMEM53transmembrane protein 53 | Joskus (5–29%) | 1 sairaudessa |
| TMEM63Atransmembrane protein 63A | Joskus (5–29%) | 1 sairaudessa |
| TOP3ADNA topoisomerase III alpha | Joskus (5–29%) | 1 sairaudessa |
| TRAF7TNF receptor associated factor 7 | Joskus (5–29%) | 1 sairaudessa |
| TRAPPC11trafficking protein particle complex subunit 11 | Joskus (5–29%) | 1 sairaudessa |
| TSC1TSC complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| TSC2TSC complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| TUBGCP2tubulin gamma complex component 2 | Joskus (5–29%) | 1 sairaudessa |
| TWIST1twist family bHLH transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| UBE4Bubiquitination factor E4B | Joskus (5–29%) | 1 sairaudessa |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Joskus (5–29%) | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Joskus (5–29%) | 2 sairaudessa |
| VPS35LVPS35 endosomal protein sorting factor like | Joskus (5–29%) | 1 sairaudessa |
| WASHC5WASH complex subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| WDR45WD repeat domain 45 | Joskus (5–29%) | 1 sairaudessa |
| WWOXWW domain containing oxidoreductase | Joskus (5–29%) | 2 sairaudessa |
| YAP1Yes1 associated transcriptional regulator | Joskus (5–29%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| ZFXzinc finger protein X-linked | Joskus (5–29%) | 1 sairaudessa |
| ZPR1ZPR1 zinc finger | Joskus (5–29%) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ACADSacyl-CoA dehydrogenase short chain | Harvinainen (1–4 %) | 1 sairaudessa |
| ACTL6Bactin like 6B | Harvinainen (1–4 %) | 1 sairaudessa |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Harvinainen (1–4 %) | 1 sairaudessa |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Harvinainen (1–4 %) | 1 sairaudessa |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CDK19cyclin dependent kinase 19 | Harvinainen (1–4 %) | 1 sairaudessa |
| CELF2CUGBP Elav-like family member 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CLTCclathrin heavy chain | Harvinainen (1–4 %) | 1 sairaudessa |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| DALRD3DALR anticodon binding domain containing 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Harvinainen (1–4 %) | 1 sairaudessa |
| DENND5ADENN domain containing 5A | Harvinainen (1–4 %) | 1 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Harvinainen (1–4 %) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Harvinainen (1–4 %) | 1 sairaudessa |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| FBXO28F-box protein 28 | Harvinainen (1–4 %) | 1 sairaudessa |
| FDX2ferredoxin 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| FGF12fibroblast growth factor 12 | Harvinainen (1–4 %) | 1 sairaudessa |
| FOXG1forkhead box G1 | Harvinainen (1–4 %) | 1 sairaudessa |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| FZR1fizzy and cell division cycle 20 related 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Harvinainen (1–4 %) | 1 sairaudessa |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Harvinainen (1–4 %) | 1 sairaudessa |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Harvinainen (1–4 %) | 1 sairaudessa |
| MTHFRmethylenetetrahydrofolate reductase | Harvinainen (1–4 %) | 1 sairaudessa |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| NECAP1NECAP endocytosis associated 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| NGLY1N-glycanase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Harvinainen (1–4 %) | 1 sairaudessa |
| PACS2phosphofurin acidic cluster sorting protein 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PANK2pantothenate kinase 2 | Harvinainen (1–4 %) | 2 sairaudessa |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Harvinainen (1–4 %) | 2 sairaudessa |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCYL1SCY1 like pseudokinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC13A5solute carrier family 13 member 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC1A2solute carrier family 1 member 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC38A3solute carrier family 38 member 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SYNJ1synaptojanin 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SZT2SZT2 subunit of KICSTOR complex | Harvinainen (1–4 %) | 1 sairaudessa |
| TRAK1trafficking kinesin protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| UBA5ubiquitin like modifier activating enzyme 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| UFSP2UFM1 specific peptidase 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Harvinainen (1–4 %) | 1 sairaudessa |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ei kirjattu | 1 sairaudessa |
| AGXTalanine--glyoxylate aminotransferase | Ei kirjattu | 1 sairaudessa |
| ARXaristaless related homeobox | Ei kirjattu | 1 sairaudessa |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ei kirjattu | 1 sairaudessa |
| CTC1CST telomere replication complex component 1 | Ei kirjattu | 1 sairaudessa |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Ei kirjattu | 1 sairaudessa |
| DKC1dyskerin pseudouridine synthase 1 | Ei kirjattu | 1 sairaudessa |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ei kirjattu | 1 sairaudessa |
| GJC2gap junction protein gamma 2 | Ei kirjattu | 1 sairaudessa |
| GLB1galactosidase beta 1 | Ei kirjattu | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ei kirjattu | 1 sairaudessa |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Ei kirjattu | 1 sairaudessa |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ei kirjattu | 1 sairaudessa |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Ei kirjattu | 1 sairaudessa |
| MAGmyelin associated glycoprotein | Ei kirjattu | 1 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Ei kirjattu | 1 sairaudessa |
| MFSD8major facilitator superfamily domain containing 8 | Ei kirjattu | 1 sairaudessa |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ei kirjattu | 1 sairaudessa |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Ei kirjattu | 1 sairaudessa |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Ei kirjattu | 1 sairaudessa |
| NIPBLNIPBL cohesin loading factor | Ei kirjattu | 1 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ei kirjattu | 1 sairaudessa |
| PDHXpyruvate dehydrogenase complex component X | Ei kirjattu | 1 sairaudessa |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ei kirjattu | 1 sairaudessa |
| PORCNporcupine O-acyltransferase | Ei kirjattu | 1 sairaudessa |
| PPT1palmitoyl-protein thioesterase 1 | Ei kirjattu | 1 sairaudessa |
| PRICKLE3prickle planar cell polarity protein 3 | Ei kirjattu | 1 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ei kirjattu | 1 sairaudessa |
| RAB23RAB23, member RAS oncogene family | Ei kirjattu | 1 sairaudessa |
| RECQL4RecQ like helicase 4 | Ei kirjattu | 1 sairaudessa |
| RPIAribose 5-phosphate isomerase A | Ei kirjattu | 1 sairaudessa |
| SLC39A14solute carrier family 39 member 14 | Ei kirjattu | 1 sairaudessa |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ei kirjattu | 1 sairaudessa |
| TBC1D7TBC1 domain family member 7 | Ei kirjattu | 1 sairaudessa |
| TMEM126Atransmembrane protein 126A | Ei kirjattu | 1 sairaudessa |
| TNFSF11TNF superfamily member 11 | Ei kirjattu | 1 sairaudessa |
| TSFMTs translation elongation factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
| TUBB4Atubulin beta 4A class IVa | Ei kirjattu | 1 sairaudessa |
| TXN2thioredoxin 2 | Ei kirjattu | 1 sairaudessa |
| VCANversican | Ei kirjattu | 1 sairaudessa |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa