Tunnus
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.
Kokkuvõte
- Teised nimetused
- Optic nerve atrophy, Optic-nerve degeneration
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Optic atrophy, and the rest of your genome, with one test.
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Telli oma Genome Test652 geeni on seotud tunnusega Optic atrophy
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Optic atrophy. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACO2aconitase 2 | Alati | Esineb 2 haiguses |
| ADAM22ADAM metallopeptidase domain 22 | Alati | Esineb 1 haiguses |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alati | Esineb 1 haiguses |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Alati | Esineb 1 haiguses |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Alati | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Alati | Esineb 3 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Alati | Esineb 1 haiguses |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alati | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Alati | Esineb 1 haiguses |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alati | Esineb 1 haiguses |
| CISD2CDGSH iron sulfur domain 2 | Alati | Esineb 2 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alati | Esineb 1 haiguses |
| COX15cytochrome c oxidase assembly factor COX15 | Alati | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 3 haiguses |
| DNMT1DNA methyltransferase 1 | Alati | Esineb 2 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alati | Esineb 1 haiguses |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Alati | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alati | Esineb 2 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alati | Esineb 4 haiguses |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 3 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Alati | Esineb 6 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alati | Esineb 1 haiguses |
| GRNgranulin precursor | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Alati | Esineb 1 haiguses |
| INTS11integrator complex subunit 11 | Alati | Esineb 1 haiguses |
| ISCA2iron-sulfur cluster assembly 2 | Alati | Esineb 2 haiguses |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alati | Esineb 1 haiguses |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Alati | Esineb 1 haiguses |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Alati | Esineb 3 haiguses |
| MFN2mitofusin 2 | Alati | Esineb 4 haiguses |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alati | Esineb 1 haiguses |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Alati | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Alati | Esineb 3 haiguses |
| MTPAPmitochondrial poly(A) polymerase | Alati | Esineb 2 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Alati | Esineb 4 haiguses |
| NADK2NAD kinase 2, mitochondrial | Alati | Esineb 1 haiguses |
Näita veel 612 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NALCNsodium leak channel, non-selective | Alati | Esineb 1 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Alati | Esineb 1 haiguses |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Alati | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alati | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Alati | Esineb 3 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 6 haiguses |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Alati | Esineb 3 haiguses |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Alati | Esineb 1 haiguses |
| PDXKpyridoxal kinase | Alati | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Alati | Esineb 2 haiguses |
| PLP1proteolipid protein 1 | Alati | Esineb 4 haiguses |
| POLG2DNA polymerase gamma 2, accessory subunit | Alati | Esineb 1 haiguses |
| POLR3BRNA polymerase III subunit B | Alati | Esineb 2 haiguses |
| PTCD3pentatricopeptide repeat domain 3 | Alati | Esineb 1 haiguses |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alati | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Alati | Esineb 2 haiguses |
| RNF170ring finger protein 170 | Alati | Esineb 1 haiguses |
| SCO1synthesis of cytochrome C oxidase 1 | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SCYL2SCY1 like pseudokinase 2 | Alati | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Alati | Esineb 2 haiguses |
| SEC31ASEC31 homolog A, COPII component | Alati | Esineb 1 haiguses |
| SLC25A19solute carrier family 25 member 19 | Alati | Esineb 2 haiguses |
| SLC30A9solute carrier family 30 member 9 | Alati | Esineb 1 haiguses |
| SLC44A1solute carrier family 44 member 1 | Alati | Esineb 1 haiguses |
| SNAPINSNAP associated protein | Alati | Esineb 1 haiguses |
| SNX10sorting nexin 10 | Alati | Esineb 1 haiguses |
| SOSTsclerostin | Alati | Esineb 4 haiguses |
| SSBP1single stranded DNA binding protein 1 | Alati | Esineb 1 haiguses |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Alati | Esineb 2 haiguses |
| SURF1SURF1 cytochrome c oxidase assembly factor | Alati | Esineb 1 haiguses |
| SV2Asynaptic vesicle glycoprotein 2A | Alati | Esineb 1 haiguses |
| TACO1translational activator of cytochrome c oxidase I | Alati | Esineb 2 haiguses |
| TFGtrafficking from ER to golgi regulator | Alati | Esineb 2 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Alati | Esineb 2 haiguses |
| YME1L1YME1 like 1 ATPase | Alati | Esineb 1 haiguses |
| ABCA4ATP binding cassette subfamily A member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHRaryl hydrocarbon receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL2BPARF like GTPase 2 binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Väga sageli (80–99%) | Esineb 1 haiguses |
| BEST1bestrophin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| C19orf12chromosome 19 open reading frame 12 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CA4carbonic anhydrase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Väga sageli (80–99%) | Esineb 2 haiguses |
| CDHR1cadherin related family member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CERKLCERK like autophagy regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP20cilia and flagella associated protein 20 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLRN1clarin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COQ8Bcoenzyme Q8B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRB1crumbs cell polarity complex component 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Väga sageli (80–99%) | Esineb 2 haiguses |
| CRXcone-rod homeobox | Väga sageli (80–99%) | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DDB2damage specific DNA binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Väga sageli (80–99%) | Esineb 2 haiguses |
| DHX38DEAH-box helicase 38 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Väga sageli (80–99%) | Esineb 3 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Väga sageli (80–99%) | Esineb 3 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Väga sageli (80–99%) | Esineb 3 haiguses |
| EYSEGF-like photoreceptor maintenance factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| FAM161AFAM161 centrosomal protein A | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Väga sageli (80–99%) | Esineb 4 haiguses |
| FKTNfukutin | Väga sageli (80–99%) | Esineb 5 haiguses |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FSCN2fascin actin-bundling protein 2, retinal | Väga sageli (80–99%) | Esineb 2 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Väga sageli (80–99%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Väga sageli (80–99%) | Esineb 2 haiguses |
| GUCA1Bguanylate cyclase activator 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HKDC1hexokinase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT172intraflagellar transport 172 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT43intraflagellar transport 43 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT88intraflagellar transport 88 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPDH1inosine monophosphate dehydrogenase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIAA1549KIAA1549 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIZkizuna centrosomal protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLC2kinesin light chain 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KLHL7kelch like family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LRATlecithin retinol acyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAKmale germ cell associated kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MERTKMER proto-oncogene, tyrosine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEK2NIMA related kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NRLneural retina leucine zipper | Väga sageli (80–99%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| PAX6paired box 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCAREphotoreceptor cilium actin regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Aphosphodiesterase 6A | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Bphosphodiesterase 6B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Gphosphodiesterase 6G | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 5 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 6 haiguses |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMT1protein O-mannosyltransferase 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| POMT2protein O-mannosyltransferase 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PPIBpeptidylprolyl isomerase B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRCDphotoreceptor disc component | Väga sageli (80–99%) | Esineb 1 haiguses |
| PROM1prominin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF3pre-mRNA processing factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF31pre-mRNA processing factor 31 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF6pre-mRNA processing factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF8pre-mRNA processing factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPH2peripherin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RBMXRNA binding motif protein X-linked | Väga sageli (80–99%) | Esineb 2 haiguses |
| RBP3retinol binding protein 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RDH12retinol dehydrogenase 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| REEP6receptor accessory protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| RGRretinal G protein coupled receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RHOrhodopsin | Väga sageli (80–99%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNF216ring finger protein 216 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-1RNA, U6 small nuclear 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-2RNA, U6 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-8RNA, U6 small nuclear 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-9RNA, U6 small nuclear 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROM1retinal outer segment membrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1RP1 axonemal microtubule associated | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1L1RP1 like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP2RP2 activator of ARL3 GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP9RP9 pre-mRNA splicing factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| RXYLT1ribitol xylosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAGS-antigen visual arrestin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAXO6stabilizer of axonemal microtubules 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC29A3solute carrier family 29 member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC7A14solute carrier family 7 member 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPATA7spermatogenesis associated 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SRD5A3steroid 5 alpha-reductase 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBC1D20TBC1 domain family member 20 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMEM216transmembrane protein 216 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TNFRSF11ATNF receptor superfamily member 11a | Väga sageli (80–99%) | Esineb 3 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBTUB bipartite transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TULP1TUB like protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Väga sageli (80–99%) | Esineb 2 haiguses |
| UBE3Bubiquitin protein ligase E3B | Väga sageli (80–99%) | Esineb 1 haiguses |
| USH2Ausherin | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR73WD repeat domain 73 | Väga sageli (80–99%) | Esineb 2 haiguses |
| WFS1wolframin ER transmembrane glycoprotein | Väga sageli (80–99%) | Esineb 4 haiguses |
| XPAXPA, DNA damage recognition and repair factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| XPO1exportin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF513zinc finger protein 513 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF592zinc finger protein 592 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACOX1acyl-CoA oxidase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ADARadenosine deaminase RNA specific | Sageli (30–79%) | Esineb 1 haiguses |
| AFF4ALF transcription elongation factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AMPD2adenosine monophosphate deaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKHANKH inorganic pyrophosphate transport regulator | Sageli (30–79%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ARSAarylsulfatase A | Sageli (30–79%) | Esineb 4 haiguses |
| ASPAaspartoacylase | Sageli (30–79%) | Esineb 2 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Sageli (30–79%) | Esineb 2 haiguses |
| ATG7autophagy related 7 | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN7ataxin 7 | Sageli (30–79%) | Esineb 1 haiguses |
| B9D1B9 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BCAP31B cell receptor associated protein 31 | Sageli (30–79%) | Esineb 2 haiguses |
| BTDbiotinidase | Sageli (30–79%) | Esineb 2 haiguses |
| CASP2caspase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CCT3chaperonin containing TCP1 subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Sageli (30–79%) | Esineb 1 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Sageli (30–79%) | Esineb 2 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Sageli (30–79%) | Esineb 2 haiguses |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Sageli (30–79%) | Esineb 1 haiguses |
| COA8cytochrome c oxidase assembly factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DIAPH1diaphanous related formin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sageli (30–79%) | Esineb 2 haiguses |
| ELP4elongator acetyltransferase complex subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 4 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sageli (30–79%) | Esineb 2 haiguses |
| EXOSC3exosome component 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC5exosome component 5 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC8exosome component 8 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Sageli (30–79%) | Esineb 1 haiguses |
| FA2Hfatty acid 2-hydroxylase | Sageli (30–79%) | Esineb 3 haiguses |
| FCSKfucose kinase | Sageli (30–79%) | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FXNfrataxin | Sageli (30–79%) | Esineb 2 haiguses |
| GEMIN4gem nuclear organelle associated protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GLAgalactosidase alpha | Sageli (30–79%) | Esineb 1 haiguses |
| GLRX5glutaredoxin 5 | Sageli (30–79%) | Esineb 2 haiguses |
| GNAQG protein subunit alpha q | Sageli (30–79%) | Esineb 1 haiguses |
| HIKESHIheat shock protein nuclear import factor hikeshi | Sageli (30–79%) | Esineb 1 haiguses |
| HK1hexokinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| INTS8integrator complex subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Sageli (30–79%) | Esineb 2 haiguses |
| KCTD7potassium channel tetramerization domain containing 7 | Sageli (30–79%) | Esineb 2 haiguses |
| KIF1Akinesin family member 1A | Sageli (30–79%) | Esineb 1 haiguses |
| LAMB1laminin subunit beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MFFmitochondrial fission factor | Sageli (30–79%) | Esineb 2 haiguses |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 6 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sageli (30–79%) | Esineb 2 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sageli (30–79%) | Esineb 3 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Sageli (30–79%) | Esineb 3 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sageli (30–79%) | Esineb 4 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sageli (30–79%) | Esineb 3 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sageli (30–79%) | Esineb 4 haiguses |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Sageli (30–79%) | Esineb 2 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sageli (30–79%) | Esineb 5 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sageli (30–79%) | Esineb 4 haiguses |
| MT-RNR1mitochondrially encoded 12S rRNA | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sageli (30–79%) | Esineb 3 haiguses |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| MTO1mitochondrial tRNA translation optimization 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NAGAalpha-N-acetylgalactosaminidase | Sageli (30–79%) | Esineb 2 haiguses |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Sageli (30–79%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Sageli (30–79%) | Esineb 1 haiguses |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| NUP54nucleoporin 54 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP62nucleoporin 62 | Sageli (30–79%) | Esineb 2 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Sageli (30–79%) | Esineb 3 haiguses |
| PLK4polo like kinase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 3 haiguses |
| POLR1ARNA polymerase I subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3KRNA polymerase III subunit K | Sageli (30–79%) | Esineb 1 haiguses |
| POU3F4POU class 3 homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sageli (30–79%) | Esineb 1 haiguses |
| PRUNE1prune exopolyphosphatase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PSAPprosaposin | Sageli (30–79%) | Esineb 5 haiguses |
| RBL2RB transcriptional corepressor like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RFC1replication factor C subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1RPGR interacting protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| RPGRIP1LRPGRIP1 like | Sageli (30–79%) | Esineb 1 haiguses |
| RSPO2R-spondin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Sageli (30–79%) | Esineb 1 haiguses |
| SLC19A2solute carrier family 19 member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A46solute carrier family 25 member 46 | Sageli (30–79%) | Esineb 3 haiguses |
| SLC6A9solute carrier family 6 member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| SMOC1SPARC related modular calcium binding 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNAP29synaptosome associated protein 29 | Sageli (30–79%) | Esineb 1 haiguses |
| SNF8SNF8 subunit of ESCRT-II | Sageli (30–79%) | Esineb 1 haiguses |
| SOX5SRY-box transcription factor 5 | Sageli (30–79%) | Esineb 2 haiguses |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sageli (30–79%) | Esineb 2 haiguses |
| STAMBPSTAM binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| SUMF1sulfatase modifying factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D2BTBC1 domain family member 2B | Sageli (30–79%) | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Sageli (30–79%) | Esineb 2 haiguses |
| TBCEtubulin folding cofactor E | Sageli (30–79%) | Esineb 2 haiguses |
| TBX4T-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TEFMtranscription elongation factor, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| THG1LtRNA-histidine guanylyltransferase 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Sageli (30–79%) | Esineb 2 haiguses |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM107transmembrane protein 107 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM67transmembrane protein 67 | Sageli (30–79%) | Esineb 1 haiguses |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Sageli (30–79%) | Esineb 2 haiguses |
| TNFRSF11BTNF receptor superfamily member 11b | Sageli (30–79%) | Esineb 1 haiguses |
| TOE1target of EGR1, exonuclease | Sageli (30–79%) | Esineb 2 haiguses |
| TRAPPC12trafficking protein particle complex subunit 12 | Sageli (30–79%) | Esineb 2 haiguses |
| TUBGCP4tubulin gamma complex component 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBGCP6tubulin gamma complex component 6 | Sageli (30–79%) | Esineb 1 haiguses |
| TXNDC15thioredoxin domain containing 15 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Sageli (30–79%) | Esineb 2 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sageli (30–79%) | Esineb 2 haiguses |
| VPS53VPS53 subunit of GARP complex | Sageli (30–79%) | Esineb 1 haiguses |
| VRK1VRK serine/threonine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| WNT3Wnt family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| AAASaladin WD repeat nucleoporin | Mõnikord (5–29%) | Esineb 2 haiguses |
| ADA2adenosine deaminase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AIREautoimmune regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| AKT3AKT serine/threonine kinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5F1AATP synthase F1 subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5F1DATP synthase F1 subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5F1EATP synthase F1 subunit epsilon | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5MKATP synthase membrane subunit k | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5POATP synthase peripheral stalk subunit OSCP | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATXN1ataxin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BOLA3bolA family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Mõnikord (5–29%) | Esineb 2 haiguses |
| BRAT1BRCA1 associated ATM activator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASRcalcium sensing receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBScystathionine beta-synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNOT3CCR4-NOT transcription complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG6component of oligomeric golgi complex 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPSF3cleavage and polyadenylation specific factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSF1Rcolony stimulating factor 1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNA2DNA replication helicase/nuclease 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DOCK6dedicator of cytokinesis 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Mõnikord (5–29%) | Esineb 2 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELP1elongator acetyltransferase complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMC1ER membrane protein complex subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FHfumarate hydratase | Mõnikord (5–29%) | Esineb 2 haiguses |
| FRMPD4FERM and PDZ domain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 2 haiguses |
| GMPPAGDP-mannose pyrophosphorylase A | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNA11G protein subunit alpha 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Mõnikord (5–29%) | Esineb 4 haiguses |
| IER3IP1immediate early response 3 interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF11kinesin family member 11 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MGPmatrix Gla protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MICU1mitochondrial calcium uptake 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MID2midline 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMUTmethylmalonyl-CoA mutase | Mõnikord (5–29%) | Esineb 2 haiguses |
| MOGSmannosyl-oligosaccharide glucosidase | Mõnikord (5–29%) | Esineb 2 haiguses |
| MPDU1mannose-P-dolichol utilization defect 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MRPS34mitochondrial ribosomal protein S34 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Mõnikord (5–29%) | Esineb 2 haiguses |
| MTORmechanistic target of rapamycin kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTSS2MTSS I-BAR domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYO5Amyosin VA | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Mõnikord (5–29%) | Esineb 2 haiguses |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NFIXnuclear factor I X | Mõnikord (5–29%) | Esineb 1 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Mõnikord (5–29%) | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRCAMneuronal cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| NT5C25'-nucleotidase, cytosolic II | Mõnikord (5–29%) | Esineb 2 haiguses |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCLOpiccolo presynaptic cytomatrix protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDPNpodoplanin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| PMPCBpeptidase, mitochondrial processing subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Mõnikord (5–29%) | Esineb 3 haiguses |
| PRDM16PR/SET domain 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB11BRAB11B, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBM10RNA binding motif protein 10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 3 haiguses |
| RHOAras homolog family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM1ribonucleotide reductase catalytic subunit M1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| SARDHsarcosine dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SBF2SET binding factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC23ASEC23 homolog A, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SELENOIselenoprotein I | Mõnikord (5–29%) | Esineb 1 haiguses |
| SERAC1serine active site containing 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SH3BP2SH3 domain binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIL1SIL1 nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC52A2solute carrier family 52 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| SP7Sp7 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TANGO2transport and golgi organization 2 homolog | Mõnikord (5–29%) | Esineb 2 haiguses |
| TBC1D24TBC1 domain family member 24 | Mõnikord (5–29%) | Esineb 4 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TK2thymidine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM222transmembrane protein 222 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM53transmembrane protein 53 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM63Atransmembrane protein 63A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOP3ADNA topoisomerase III alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAF7TNF receptor associated factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSC1TSC complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSC2TSC complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBGCP2tubulin gamma complex component 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS13Bvacuolar protein sorting 13 homolog B | Mõnikord (5–29%) | Esineb 2 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Mõnikord (5–29%) | Esineb 1 haiguses |
| WASHC5WASH complex subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR45WD repeat domain 45 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Mõnikord (5–29%) | Esineb 2 haiguses |
| YAP1Yes1 associated transcriptional regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZPR1ZPR1 zinc finger | Mõnikord (5–29%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Harva (1–4%) | Esineb 1 haiguses |
| ACADSacyl-CoA dehydrogenase short chain | Harva (1–4%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Harva (1–4%) | Esineb 1 haiguses |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Harva (1–4%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Harva (1–4%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Harva (1–4%) | Esineb 1 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Harva (1–4%) | Esineb 1 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Harva (1–4%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Harva (1–4%) | Esineb 1 haiguses |
| CELF2CUGBP Elav-like family member 2 | Harva (1–4%) | Esineb 1 haiguses |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Harva (1–4%) | Esineb 1 haiguses |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Harva (1–4%) | Esineb 1 haiguses |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| DALRD3DALR anticodon binding domain containing 3 | Harva (1–4%) | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Harva (1–4%) | Esineb 1 haiguses |
| DENND5ADENN domain containing 5A | Harva (1–4%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Harva (1–4%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Harva (1–4%) | Esineb 1 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Harva (1–4%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Harva (1–4%) | Esineb 1 haiguses |
| FDX2ferredoxin 2 | Harva (1–4%) | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Harva (1–4%) | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Harva (1–4%) | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Harva (1–4%) | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Harva (1–4%) | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Harva (1–4%) | Esineb 1 haiguses |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Harva (1–4%) | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Harva (1–4%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Harva (1–4%) | Esineb 1 haiguses |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Harva (1–4%) | Esineb 1 haiguses |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Harva (1–4%) | Esineb 1 haiguses |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Harva (1–4%) | Esineb 1 haiguses |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Harva (1–4%) | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Harva (1–4%) | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Harva (1–4%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Harva (1–4%) | Esineb 1 haiguses |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Harva (1–4%) | Esineb 1 haiguses |
| MTHFRmethylenetetrahydrofolate reductase | Harva (1–4%) | Esineb 1 haiguses |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Harva (1–4%) | Esineb 1 haiguses |
| NECAP1NECAP endocytosis associated 1 | Harva (1–4%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Harva (1–4%) | Esineb 1 haiguses |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Harva (1–4%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| PANK2pantothenate kinase 2 | Harva (1–4%) | Esineb 2 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Harva (1–4%) | Esineb 2 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Harva (1–4%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Harva (1–4%) | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Harva (1–4%) | Esineb 1 haiguses |
| SCYL1SCY1 like pseudokinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Harva (1–4%) | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Harva (1–4%) | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Harva (1–4%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Harva (1–4%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Harva (1–4%) | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Harva (1–4%) | Esineb 1 haiguses |
| TRAK1trafficking kinesin protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Harva (1–4%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Harva (1–4%) | Esineb 1 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Harva (1–4%) | Esineb 1 haiguses |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Pole registreeritud | Esineb 1 haiguses |
| AGXTalanine--glyoxylate aminotransferase | Pole registreeritud | Esineb 1 haiguses |
| ARXaristaless related homeobox | Pole registreeritud | Esineb 1 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Pole registreeritud | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Pole registreeritud | Esineb 1 haiguses |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Pole registreeritud | Esineb 1 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| GJC2gap junction protein gamma 2 | Pole registreeritud | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Pole registreeritud | Esineb 1 haiguses |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Pole registreeritud | Esineb 1 haiguses |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| MAGmyelin associated glycoprotein | Pole registreeritud | Esineb 1 haiguses |
| MCOLN1mucolipin TRP cation channel 1 | Pole registreeritud | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Pole registreeritud | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Pole registreeritud | Esineb 1 haiguses |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Pole registreeritud | Esineb 1 haiguses |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Pole registreeritud | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Pole registreeritud | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| PCK1phosphoenolpyruvate carboxykinase 1 | Pole registreeritud | Esineb 1 haiguses |
| PDHXpyruvate dehydrogenase complex component X | Pole registreeritud | Esineb 1 haiguses |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Pole registreeritud | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| PPT1palmitoyl-protein thioesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| PRICKLE3prickle planar cell polarity protein 3 | Pole registreeritud | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Pole registreeritud | Esineb 1 haiguses |
| RPIAribose 5-phosphate isomerase A | Pole registreeritud | Esineb 1 haiguses |
| SLC39A14solute carrier family 39 member 14 | Pole registreeritud | Esineb 1 haiguses |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Pole registreeritud | Esineb 1 haiguses |
| TBC1D7TBC1 domain family member 7 | Pole registreeritud | Esineb 1 haiguses |
| TMEM126Atransmembrane protein 126A | Pole registreeritud | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Pole registreeritud | Esineb 1 haiguses |
| TSFMTs translation elongation factor, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| TUBB4Atubulin beta 4A class IVa | Pole registreeritud | Esineb 1 haiguses |
| TXN2thioredoxin 2 | Pole registreeritud | Esineb 1 haiguses |
| VCANversican | Pole registreeritud | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast