Piirre
Visual impairment
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Yhteenveto
- Tunnetaan myös nimellä
- Impaired vision, Loss of eyesight, Poor vision
- Elimistön järjestelmä
- Abnormality of the eye
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Visual impairment, and the rest of your genome, with one test.
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Tilaa Genome Test600 geeniä, jotka liittyvät piirteeseen Visual impairment
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Visual impairment 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 | 1 sairaudessa |
| AFG2AAAA ATPase AFG2A | Aina | 2 sairaudessa |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Aina | 1 sairaudessa |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Aina | 1 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Aina | 2 sairaudessa |
| ARL6ARF like GTPase 6 | Aina | 2 sairaudessa |
| ASPAaspartoacylase | Aina | 1 sairaudessa |
| ASPHaspartate beta-hydroxylase | Aina | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Aina | 1 sairaudessa |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| CEP290centrosomal protein 290 | Aina | 4 sairaudessa |
| CEP78centrosomal protein 78 | Aina | 1 sairaudessa |
| CHMCHM Rab escort protein | Aina | 2 sairaudessa |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Aina | 2 sairaudessa |
| COL18A1collagen type XVIII alpha 1 chain | Aina | 1 sairaudessa |
| CRXcone-rod homeobox | Aina | 3 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Aina | 1 sairaudessa |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Aina | 1 sairaudessa |
| EIF4A2eukaryotic translation initiation factor 4A2 | Aina | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Aina | 3 sairaudessa |
| FCSKfucose kinase | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 3 sairaudessa |
| GRNgranulin precursor | Aina | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Aina | 1 sairaudessa |
| HARS1histidyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| HKDC1hexokinase domain containing 1 | Aina | 2 sairaudessa |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Aina | 2 sairaudessa |
| IFT74intraflagellar transport 74 | Aina | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 1 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Aina | 1 sairaudessa |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Aina | 1 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Aina | 1 sairaudessa |
| MFSD8major facilitator superfamily domain containing 8 | Aina | 2 sairaudessa |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Aina | 2 sairaudessa |
| NAPBNSF attachment protein beta | Aina | 1 sairaudessa |
| NCAPG2non-SMC condensin II complex subunit G2 | Aina | 1 sairaudessa |
| NLRP1NLR family pyrin domain containing 1 | Aina | 1 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Aina | 2 sairaudessa |
| OATornithine aminotransferase | Aina | 1 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Aina | 4 sairaudessa |
Näytä 560 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Aina | 3 sairaudessa |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Aina | 2 sairaudessa |
| PAX6paired box 6 | Aina | 3 sairaudessa |
| PCDH12protocadherin 12 | Aina | 1 sairaudessa |
| PDE6Aphosphodiesterase 6A | Aina | 2 sairaudessa |
| PRPF6pre-mRNA processing factor 6 | Aina | 2 sairaudessa |
| PRPH2peripherin 2 | Aina | 6 sairaudessa |
| RBP3retinol binding protein 3 | Aina | 2 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Aina | 1 sairaudessa |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Aina | 2 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 1 sairaudessa |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Aina | 2 sairaudessa |
| SDHDsuccinate dehydrogenase complex subunit D | Aina | 1 sairaudessa |
| SFXN4sideroflexin 4 | Aina | 1 sairaudessa |
| SLC24A5solute carrier family 24 member 5 | Aina | 1 sairaudessa |
| TBC1D20TBC1 domain family member 20 | Aina | 1 sairaudessa |
| TENM3teneurin transmembrane protein 3 | Aina | 1 sairaudessa |
| TGFBItransforming growth factor beta induced | Aina | 4 sairaudessa |
| TMEM53transmembrane protein 53 | Aina | 1 sairaudessa |
| TMEM63Btransmembrane protein 63B | Aina | 1 sairaudessa |
| TSEN2tRNA splicing endonuclease subunit 2 | Aina | 1 sairaudessa |
| TUBTUB bipartite transcription factor | Aina | 2 sairaudessa |
| VPS4Avacuolar protein sorting 4 homolog A | Aina | 1 sairaudessa |
| WDR19WD repeat domain 19 | Aina | 3 sairaudessa |
| YME1L1YME1 like 1 ATPase | Aina | 1 sairaudessa |
| ZFXzinc finger protein X-linked | Aina | 1 sairaudessa |
| ABCA4ATP binding cassette subfamily A member 4 | Hyvin usein (80–99%) | 3 sairaudessa |
| AGBL5AGBL carboxypeptidase 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHI1Abelson helper integration site 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| AHRaryl hydrocarbon receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Hyvin usein (80–99%) | 2 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 |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | 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 |
| BEST1bestrophin 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| CA4carbonic anhydrase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Hyvin usein (80–99%) | 3 sairaudessa |
| CDHR1cadherin related family member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CEP164centrosomal protein 164 | Hyvin usein (80–99%) | 1 sairaudessa |
| CERKLCERK like autophagy regulator | Hyvin usein (80–99%) | 2 sairaudessa |
| CFAP20cilia and flagella associated protein 20 | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Hyvin usein (80–99%) | 2 sairaudessa |
| CLCN7Cl-/H+ antiporter 7 | Hyvin usein (80–99%) | 4 sairaudessa |
| CLN8CLN8 transmembrane ER and ERGIC protein | Hyvin usein (80–99%) | 1 sairaudessa |
| CLRN1clarin 1 | Hyvin usein (80–99%) | 2 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 |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | 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%) | 1 sairaudessa |
| CTNScystinosin, lysosomal cystine transporter | Hyvin usein (80–99%) | 2 sairaudessa |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| DHX38DEAH-box helicase 38 | Hyvin usein (80–99%) | 1 sairaudessa |
| DNM1Ldynamin 1L | Hyvin usein (80–99%) | 1 sairaudessa |
| EXOSC8exosome component 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| EYSEGF-like photoreceptor maintenance factor | Hyvin usein (80–99%) | 1 sairaudessa |
| FAM161AFAM161 centrosomal protein A | Hyvin usein (80–99%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| FKRPfukutin related protein | Hyvin usein (80–99%) | 1 sairaudessa |
| FKTNfukutin | Hyvin usein (80–99%) | 2 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%) | 2 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Hyvin usein (80–99%) | 1 sairaudessa |
| GNAT2G protein subunit alpha transducin 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| GUCA1Aguanylate cyclase activator 1A | Hyvin usein (80–99%) | 3 sairaudessa |
| GUCA1Bguanylate cyclase activator 1B | Hyvin usein (80–99%) | 2 sairaudessa |
| HESX1HESX homeobox 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT172intraflagellar transport 172 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT43intraflagellar transport 43 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT54intraflagellar transport 54 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT88intraflagellar transport 88 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPDH1inosine monophosphate dehydrogenase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| INPP5Einositol polyphosphate-5-phosphatase E | Hyvin usein (80–99%) | 2 sairaudessa |
| INVSinversin | Hyvin usein (80–99%) | 1 sairaudessa |
| IQCB1IQ motif containing B1 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIAA1549KIAA1549 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIZkizuna centrosomal protein | Hyvin usein (80–99%) | 1 sairaudessa |
| KLHL7kelch like family member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LRATlecithin retinol acyltransferase | Hyvin usein (80–99%) | 2 sairaudessa |
| LSSlanosterol synthase | 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 |
| MTRFRmitochondrial translation release factor in rescue | Hyvin usein (80–99%) | 2 sairaudessa |
| NEK2NIMA related kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NHSNHS actin remodeling regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| NPHP1nephrocystin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NPHP3nephrocystin 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NPHP4nephrocystin 4 | 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%) | 2 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Hyvin usein (80–99%) | 1 sairaudessa |
| OTX2orthodenticle homeobox 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| PCAREphotoreceptor cilium actin regulator | Hyvin usein (80–99%) | 2 sairaudessa |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Bphosphodiesterase 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Cphosphodiesterase 6C | Hyvin usein (80–99%) | 2 sairaudessa |
| PDE6Gphosphodiesterase 6G | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX10peroxisomal biogenesis factor 10 | Hyvin usein (80–99%) | 4 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%) | 4 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%) | 4 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 2 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PPIBpeptidylprolyl isomerase B | Hyvin usein (80–99%) | 1 sairaudessa |
| PRCDphotoreceptor disc component | Hyvin usein (80–99%) | 1 sairaudessa |
| PROKR2prokineticin receptor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| PROM1prominin 1 | Hyvin usein (80–99%) | 2 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 |
| PRPF8pre-mRNA processing factor 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | 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 |
| RGRretinal G protein coupled receptor | Hyvin usein (80–99%) | 2 sairaudessa |
| RGS9regulator of G protein signaling 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| RGS9BPregulator of G protein signaling 9 binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| RHOrhodopsin | Hyvin usein (80–99%) | 1 sairaudessa |
| RLBP1retinaldehyde binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | 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%) | 3 sairaudessa |
| RPGRretinitis pigmentosa GTPase regulator | Hyvin usein (80–99%) | 3 sairaudessa |
| SAGS-antigen visual arrestin | Hyvin usein (80–99%) | 3 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 |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Hyvin usein (80–99%) | 1 sairaudessa |
| SEMA4Asemaphorin 4A | Hyvin usein (80–99%) | 3 sairaudessa |
| SLC38A3solute carrier family 38 member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC4A11solute carrier family 4 member 11 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC7A14solute carrier family 7 member 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Hyvin usein (80–99%) | 2 sairaudessa |
| SNX10sorting nexin 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| SOX2SRY-box transcription factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SOX3SRY-box transcription factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPATA7spermatogenesis associated 7 | Hyvin usein (80–99%) | 2 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| SUMF1sulfatase modifying factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Hyvin usein (80–99%) | 3 sairaudessa |
| TMEM216transmembrane protein 216 | Hyvin usein (80–99%) | 3 sairaudessa |
| TNFSF11TNF superfamily member 11 | Hyvin usein (80–99%) | 1 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Hyvin usein (80–99%) | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Hyvin usein (80–99%) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Hyvin usein (80–99%) | 2 sairaudessa |
| TULP1TUB like protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| USH2Ausherin | Hyvin usein (80–99%) | 2 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | 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 |
| ABCC6ATP binding cassette subfamily C member 6 | Usein (30–79%) | 3 sairaudessa |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Usein (30–79%) | 1 sairaudessa |
| AMACRalpha-methylacyl-CoA racemase | Usein (30–79%) | 1 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Usein (30–79%) | 1 sairaudessa |
| ARID1AAT-rich interaction domain 1A | Usein (30–79%) | 2 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Usein (30–79%) | 2 sairaudessa |
| ARID2AT-rich interaction domain 2 | Usein (30–79%) | 1 sairaudessa |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Usein (30–79%) | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Usein (30–79%) | 1 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Usein (30–79%) | 1 sairaudessa |
| BCL11ABCL11 transcription factor A | Usein (30–79%) | 1 sairaudessa |
| BDNFbrain derived neurotrophic factor | Usein (30–79%) | 1 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Usein (30–79%) | 1 sairaudessa |
| CABP4calcium binding protein 4 | Usein (30–79%) | 2 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Usein (30–79%) | 1 sairaudessa |
| CCT3chaperonin containing TCP1 subunit 3 | Usein (30–79%) | 1 sairaudessa |
| CHD6chromodomain helicase DNA binding protein 6 | Usein (30–79%) | 1 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Usein (30–79%) | 1 sairaudessa |
| COG3component of oligomeric golgi complex 3 | Usein (30–79%) | 1 sairaudessa |
| COL11A1collagen type XI alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| COQ4coenzyme Q4 | Usein (30–79%) | 1 sairaudessa |
| COX11cytochrome c oxidase copper chaperone COX11 | Usein (30–79%) | 1 sairaudessa |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Usein (30–79%) | 1 sairaudessa |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Usein (30–79%) | 1 sairaudessa |
| DCCDCC netrin 1 receptor | Usein (30–79%) | 2 sairaudessa |
| DDR2discoidin domain receptor tyrosine kinase 2 | Usein (30–79%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Usein (30–79%) | 1 sairaudessa |
| DOCK6dedicator of cytokinesis 6 | Usein (30–79%) | 1 sairaudessa |
| DPF2double PHD fingers 2 | Usein (30–79%) | 1 sairaudessa |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Usein (30–79%) | 2 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Usein (30–79%) | 1 sairaudessa |
| ELNelastin | Usein (30–79%) | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Usein (30–79%) | 2 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Usein (30–79%) | 1 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Usein (30–79%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Usein (30–79%) | 3 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Usein (30–79%) | 2 sairaudessa |
| FASFas cell surface death receptor | Usein (30–79%) | 1 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Usein (30–79%) | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Usein (30–79%) | 2 sairaudessa |
| GLRX5glutaredoxin 5 | Usein (30–79%) | 2 sairaudessa |
| GNSglucosamine (N-acetyl)-6-sulfatase | Usein (30–79%) | 1 sairaudessa |
| GSNgelsolin | Usein (30–79%) | 1 sairaudessa |
| GTF2Igeneral transcription factor IIi | Usein (30–79%) | 1 sairaudessa |
| GTF2IRD1GTF2I repeat domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| GUCY2Dguanylate cyclase 2D, retinal | Usein (30–79%) | 2 sairaudessa |
| GUSBglucuronidase beta | Usein (30–79%) | 1 sairaudessa |
| HIKESHIheat shock protein nuclear import factor hikeshi | Usein (30–79%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Usein (30–79%) | 3 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Usein (30–79%) | 2 sairaudessa |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Usein (30–79%) | 1 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Usein (30–79%) | 4 sairaudessa |
| IGBP1immunoglobulin binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Usein (30–79%) | 1 sairaudessa |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Usein (30–79%) | 2 sairaudessa |
| LAMP2lysosome associated membrane protein 2 | Usein (30–79%) | 1 sairaudessa |
| LCA5lebercilin LCA5 | Usein (30–79%) | 2 sairaudessa |
| LIMK1LIM domain kinase 1 | Usein (30–79%) | 1 sairaudessa |
| LYRM7LYR motif containing 7 | Usein (30–79%) | 1 sairaudessa |
| MAB21L1mab-21 like 1 | Usein (30–79%) | 2 sairaudessa |
| MAFMAF bZIP transcription factor | Usein (30–79%) | 1 sairaudessa |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Usein (30–79%) | 1 sairaudessa |
| METTL27methyltransferase like 27 | Usein (30–79%) | 1 sairaudessa |
| MFFmitochondrial fission factor | Usein (30–79%) | 2 sairaudessa |
| MMACHCmetabolism of cobalamin associated C | Usein (30–79%) | 2 sairaudessa |
| MYOCmyocilin | Usein (30–79%) | 1 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | Usein (30–79%) | 1 sairaudessa |
| NLRP3NLR family pyrin domain containing 3 | Usein (30–79%) | 1 sairaudessa |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Usein (30–79%) | 1 sairaudessa |
| PAX2paired box 2 | Usein (30–79%) | 1 sairaudessa |
| PEPDpeptidase D | Usein (30–79%) | 1 sairaudessa |
| PEX7peroxisomal biogenesis factor 7 | Usein (30–79%) | 1 sairaudessa |
| PHYHphytanoyl-CoA 2-hydroxylase | Usein (30–79%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Usein (30–79%) | 1 sairaudessa |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Usein (30–79%) | 1 sairaudessa |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Usein (30–79%) | 1 sairaudessa |
| PLK4polo like kinase 4 | Usein (30–79%) | 2 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Usein (30–79%) | 2 sairaudessa |
| POLR1BRNA polymerase I subunit B | Usein (30–79%) | 1 sairaudessa |
| POLR1CRNA polymerase I and III subunit C | Usein (30–79%) | 1 sairaudessa |
| POLR1DRNA polymerase I and III subunit D | Usein (30–79%) | 1 sairaudessa |
| POLR2ARNA polymerase II subunit A | Usein (30–79%) | 1 sairaudessa |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Usein (30–79%) | 1 sairaudessa |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Usein (30–79%) | 3 sairaudessa |
| RELREL proto-oncogene, NF-kB subunit | Usein (30–79%) | 1 sairaudessa |
| RFC2replication factor C subunit 2 | Usein (30–79%) | 1 sairaudessa |
| RFT1RFT1 glycolipid translocator homolog | Usein (30–79%) | 1 sairaudessa |
| ROBO3roundabout guidance receptor 3 | Usein (30–79%) | 1 sairaudessa |
| RPGRIP1LRPGRIP1 like | Usein (30–79%) | 1 sairaudessa |
| RTN2reticulon 2 | Usein (30–79%) | 1 sairaudessa |
| SALL4spalt like transcription factor 4 | Usein (30–79%) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Usein (30–79%) | 2 sairaudessa |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Usein (30–79%) | 1 sairaudessa |
| SLC25A46solute carrier family 25 member 46 | Usein (30–79%) | 1 sairaudessa |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Usein (30–79%) | 2 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Usein (30–79%) | 2 sairaudessa |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Usein (30–79%) | 1 sairaudessa |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Usein (30–79%) | 1 sairaudessa |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Usein (30–79%) | 1 sairaudessa |
| SMG9SMG9 nonsense mediated mRNA decay factor | Usein (30–79%) | 1 sairaudessa |
| SOX11SRY-box transcription factor 11 | Usein (30–79%) | 1 sairaudessa |
| SOX4SRY-box transcription factor 4 | Usein (30–79%) | 1 sairaudessa |
| SRSF1serine and arginine rich splicing factor 1 | Usein (30–79%) | 1 sairaudessa |
| STX1Asyntaxin 1A | Usein (30–79%) | 1 sairaudessa |
| SYNJ1synaptojanin 1 | Usein (30–79%) | 1 sairaudessa |
| TBL2transducin beta like 2 | Usein (30–79%) | 1 sairaudessa |
| TCOF1treacle ribosome biogenesis factor 1 | Usein (30–79%) | 1 sairaudessa |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Usein (30–79%) | 2 sairaudessa |
| TMEM138transmembrane protein 138 | Usein (30–79%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Usein (30–79%) | 1 sairaudessa |
| TMEM237transmembrane protein 237 | Usein (30–79%) | 1 sairaudessa |
| TMEM270transmembrane protein 270 | Usein (30–79%) | 1 sairaudessa |
| TMEM67transmembrane protein 67 | Usein (30–79%) | 1 sairaudessa |
| TSPAN12tetraspanin 12 | Usein (30–79%) | 1 sairaudessa |
| TUBGCP4tubulin gamma complex component 4 | Usein (30–79%) | 2 sairaudessa |
| TUBGCP6tubulin gamma complex component 6 | Usein (30–79%) | 2 sairaudessa |
| TWIST2twist family bHLH transcription factor 2 | Usein (30–79%) | 1 sairaudessa |
| TYRtyrosinase | Usein (30–79%) | 4 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Usein (30–79%) | 1 sairaudessa |
| WT1WT1 transcription factor | Usein (30–79%) | 1 sairaudessa |
| XPO1exportin 1 | Usein (30–79%) | 1 sairaudessa |
| XYLT1xylosyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| XYLT2xylosyltransferase 2 | Usein (30–79%) | 2 sairaudessa |
| ZNF423zinc finger protein 423 | Usein (30–79%) | 1 sairaudessa |
| ZSCAN10zinc finger and SCAN domain containing 10 | Usein (30–79%) | 1 sairaudessa |
| AAASaladin WD repeat nucleoporin | Joskus (5–29%) | 1 sairaudessa |
| ADAM9ADAM metallopeptidase domain 9 | Joskus (5–29%) | 2 sairaudessa |
| ADAMTSL4ADAMTS like 4 | Joskus (5–29%) | 1 sairaudessa |
| AGO2argonaute RISC catalytic component 2 | Joskus (5–29%) | 1 sairaudessa |
| AIPL1AIP like 1 HSP90 co-chaperone | Joskus (5–29%) | 1 sairaudessa |
| ANKHANKH inorganic pyrophosphate transport regulator | Joskus (5–29%) | 1 sairaudessa |
| ANKRD11ankyrin repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| ANOS1anosmin 1 | Joskus (5–29%) | 1 sairaudessa |
| ATF6activating transcription factor 6 | Joskus (5–29%) | 1 sairaudessa |
| ATMATM serine/threonine kinase | Joskus (5–29%) | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| BCL10BCL10 immune signaling adaptor | Joskus (5–29%) | 1 sairaudessa |
| BCORBCL6 corepressor | Joskus (5–29%) | 1 sairaudessa |
| BIRC3baculoviral IAP repeat containing 3 | Joskus (5–29%) | 1 sairaudessa |
| BMPR1Abone morphogenetic protein receptor type 1A | Joskus (5–29%) | 1 sairaudessa |
| BOLA3bolA family member 3 | Joskus (5–29%) | 1 sairaudessa |
| BRCA1BRCA1 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| BRCA2BRCA2 DNA repair associated | Joskus (5–29%) | 2 sairaudessa |
| BRIP1BRCA1 interacting DNA helicase 1 | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Joskus (5–29%) | 3 sairaudessa |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Joskus (5–29%) | 2 sairaudessa |
| CALRcalreticulin | Joskus (5–29%) | 1 sairaudessa |
| CASZ1castor zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| CBScystathionine beta-synthase | Joskus (5–29%) | 1 sairaudessa |
| CCDC141coiled-coil domain containing 141 | Joskus (5–29%) | 1 sairaudessa |
| CDK8cyclin dependent kinase 8 | Joskus (5–29%) | 1 sairaudessa |
| CFAP410cilia and flagella associated protein 410 | Joskus (5–29%) | 1 sairaudessa |
| CHD7chromodomain helicase DNA binding protein 7 | Joskus (5–29%) | 1 sairaudessa |
| CHEK2checkpoint kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| CLTCclathrin heavy chain | Joskus (5–29%) | 1 sairaudessa |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Joskus (5–29%) | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Joskus (5–29%) | 1 sairaudessa |
| CSF1Rcolony stimulating factor 1 receptor | Joskus (5–29%) | 1 sairaudessa |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Joskus (5–29%) | 1 sairaudessa |
| DDX3XDEAD-box helicase 3 X-linked | Joskus (5–29%) | 1 sairaudessa |
| DOLKdolichol kinase | Joskus (5–29%) | 1 sairaudessa |
| DRAM2DNA damage regulated autophagy modulator 2 | Joskus (5–29%) | 1 sairaudessa |
| DUSP6dual specificity phosphatase 6 | Joskus (5–29%) | 1 sairaudessa |
| EMX2empty spiracles homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Joskus (5–29%) | 1 sairaudessa |
| EPCAMepithelial cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| FAAP100FA core complex associated protein 100 | Joskus (5–29%) | 1 sairaudessa |
| FANCAFA complementation group A | Joskus (5–29%) | 1 sairaudessa |
| FANCBFA complementation group B | Joskus (5–29%) | 1 sairaudessa |
| FANCCFA complementation group C | Joskus (5–29%) | 1 sairaudessa |
| FANCD2FA complementation group D2 | Joskus (5–29%) | 1 sairaudessa |
| FANCEFA complementation group E | Joskus (5–29%) | 1 sairaudessa |
| FANCFFA complementation group F | Joskus (5–29%) | 1 sairaudessa |
| FANCGFA complementation group G | Joskus (5–29%) | 1 sairaudessa |
| FANCIFA complementation group I | Joskus (5–29%) | 1 sairaudessa |
| FANCLFA complementation group L | Joskus (5–29%) | 1 sairaudessa |
| FANCMFA complementation group M | Joskus (5–29%) | 1 sairaudessa |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| FBN1fibrillin 1 | Joskus (5–29%) | 1 sairaudessa |
| FBXO22F-box protein 22 | Joskus (5–29%) | 1 sairaudessa |
| FEZF1FEZ family zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| FGF17fibroblast growth factor 17 | Joskus (5–29%) | 1 sairaudessa |
| FGF8fibroblast growth factor 8 | Joskus (5–29%) | 1 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Joskus (5–29%) | 2 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Joskus (5–29%) | 1 sairaudessa |
| FILIP1filamin A interacting protein 1 | Joskus (5–29%) | 1 sairaudessa |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Joskus (5–29%) | 1 sairaudessa |
| FN1fibronectin 1 | Joskus (5–29%) | 1 sairaudessa |
| FOXP1forkhead box P1 | Joskus (5–29%) | 1 sairaudessa |
| FXNfrataxin | Joskus (5–29%) | 1 sairaudessa |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Joskus (5–29%) | 1 sairaudessa |
| GALCgalactosylceramidase | Joskus (5–29%) | 1 sairaudessa |
| GMPPAGDP-mannose pyrophosphorylase A | Joskus (5–29%) | 1 sairaudessa |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Joskus (5–29%) | 2 sairaudessa |
| GPR143G protein-coupled receptor 143 | Joskus (5–29%) | 1 sairaudessa |
| GTPBP3GTP binding protein 3, mitochondrial | Joskus (5–29%) | 2 sairaudessa |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Joskus (5–29%) | 1 sairaudessa |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| IGHimmunoglobulin heavy locus | Joskus (5–29%) | 1 sairaudessa |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Joskus (5–29%) | 1 sairaudessa |
| IKZF1IKAROS family zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| IL12Binterleukin 12B | Joskus (5–29%) | 1 sairaudessa |
| IL17RDinterleukin 17 receptor D | Joskus (5–29%) | 1 sairaudessa |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Joskus (5–29%) | 1 sairaudessa |
| JAK2Janus kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Joskus (5–29%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| LAMA3laminin subunit alpha 3 | Joskus (5–29%) | 1 sairaudessa |
| LAMB2laminin subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| LCATlecithin-cholesterol acyltransferase | Joskus (5–29%) | 1 sairaudessa |
| LRP5LDL receptor related protein 5 | Joskus (5–29%) | 1 sairaudessa |
| LUZP1leucine zipper protein 1 | Joskus (5–29%) | 1 sairaudessa |
| MAD2L2mitotic arrest deficient 2 like 2 | Joskus (5–29%) | 1 sairaudessa |
| MALT1MALT1 paracaspase | Joskus (5–29%) | 1 sairaudessa |
| MLH1mutL homolog 1 | Joskus (5–29%) | 1 sairaudessa |
| MLXMAX dimerization protein MLX | Joskus (5–29%) | 1 sairaudessa |
| MMP23Bmatrix metallopeptidase 23B | Joskus (5–29%) | 1 sairaudessa |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Joskus (5–29%) | 1 sairaudessa |
| MPLMPL proto-oncogene, thrombopoietin receptor | Joskus (5–29%) | 1 sairaudessa |
| MSH2mutS homolog 2 | Joskus (5–29%) | 1 sairaudessa |
| MSH6mutS homolog 6 | Joskus (5–29%) | 1 sairaudessa |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Joskus (5–29%) | 1 sairaudessa |
| MUTYHmutY DNA glycosylase | Joskus (5–29%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| NDNFneuron derived neurotrophic factor | Joskus (5–29%) | 1 sairaudessa |
| NOTCH3notch receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| NPATnuclear protein, coactivator of histone transcription | Joskus (5–29%) | 1 sairaudessa |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| OPN1LWopsin 1, long wave sensitive | Joskus (5–29%) | 3 sairaudessa |
| OPN1MWopsin 1, medium wave sensitive | Joskus (5–29%) | 3 sairaudessa |
| PALB2partner and localizer of BRCA2 | Joskus (5–29%) | 1 sairaudessa |
| PDE4Dphosphodiesterase 4D | Joskus (5–29%) | 1 sairaudessa |
| PDPNpodoplanin | Joskus (5–29%) | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Joskus (5–29%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PITPNM3PITPNM family member 3 | Joskus (5–29%) | 1 sairaudessa |
| PLCB1phospholipase C beta 1 | Joskus (5–29%) | 1 sairaudessa |
| PLXND1plexin D1 | Joskus (5–29%) | 1 sairaudessa |
| PMS1PMS1 homolog 1, mismatch repair system component | Joskus (5–29%) | 1 sairaudessa |
| PMS2PMS1 homolog 2, mismatch repair system component | Joskus (5–29%) | 1 sairaudessa |
| POC1BPOC1 centriolar protein B | Joskus (5–29%) | 2 sairaudessa |
| POLD1DNA polymerase delta 1, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| POLEDNA polymerase epsilon, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Joskus (5–29%) | 3 sairaudessa |
| POLG2DNA polymerase gamma 2, accessory subunit | Joskus (5–29%) | 1 sairaudessa |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Joskus (5–29%) | 1 sairaudessa |
| PRDM16PR/SET domain 16 | Joskus (5–29%) | 1 sairaudessa |
| PRKCZprotein kinase C zeta | Joskus (5–29%) | 1 sairaudessa |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| PROK2prokineticin 2 | Joskus (5–29%) | 1 sairaudessa |
| PRTN3proteinase 3 | Joskus (5–29%) | 1 sairaudessa |
| PUS3pseudouridine synthase 3 | Joskus (5–29%) | 1 sairaudessa |
| RAB11BRAB11B, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RAB28RAB28, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RAB3ARAB3A, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RAD51RAD51 recombinase | Joskus (5–29%) | 1 sairaudessa |
| RAD51CRAD51 paralog C | Joskus (5–29%) | 1 sairaudessa |
| RAX2retina and anterior neural fold homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Joskus (5–29%) | 1 sairaudessa |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| RFWD3ring finger and WD repeat domain 3 | Joskus (5–29%) | 1 sairaudessa |
| RIMS1regulating synaptic membrane exocytosis 1 | Joskus (5–29%) | 1 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Joskus (5–29%) | 1 sairaudessa |
| RPGRIP1RPGR interacting protein 1 | Joskus (5–29%) | 2 sairaudessa |
| RPS20ribosomal protein S20 | Joskus (5–29%) | 1 sairaudessa |
| RRM1ribonucleotide reductase catalytic subunit M1 | Joskus (5–29%) | 1 sairaudessa |
| SAR1Bsecretion associated Ras related GTPase 1B | Joskus (5–29%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| SEMA3Asemaphorin 3A | Joskus (5–29%) | 1 sairaudessa |
| SH2B3SH2B adaptor protein 3 | Joskus (5–29%) | 1 sairaudessa |
| SH3BP2SH3 domain binding protein 2 | Joskus (5–29%) | 2 sairaudessa |
| SKISKI proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SLC12A5solute carrier family 12 member 5 | Joskus (5–29%) | 1 sairaudessa |
| SLC25A22solute carrier family 25 member 22 | Joskus (5–29%) | 1 sairaudessa |
| SLC25A4solute carrier family 25 member 4 | Joskus (5–29%) | 1 sairaudessa |
| SLC39A4solute carrier family 39 member 4 | Joskus (5–29%) | 1 sairaudessa |
| SLX4SLX4 structure-specific endonuclease subunit | Joskus (5–29%) | 1 sairaudessa |
| SOBPsine oculis binding protein homolog | Joskus (5–29%) | 1 sairaudessa |
| SOX10SRY-box transcription factor 10 | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Joskus (5–29%) | 2 sairaudessa |
| SPRY4sprouty RTK signaling antagonist 4 | Joskus (5–29%) | 1 sairaudessa |
| SRYsex determining region Y | Joskus (5–29%) | 1 sairaudessa |
| TACR3tachykinin receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| TAOK1TAO kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| TBC1D24TBC1 domain family member 24 | Joskus (5–29%) | 1 sairaudessa |
| TCP1t-complex 1 | Joskus (5–29%) | 1 sairaudessa |
| TET2tet methylcytosine dioxygenase 2 | Joskus (5–29%) | 1 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| THOC2THO complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| TK2thymidine kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| TLCD3BTLC domain containing 3B | Joskus (5–29%) | 1 sairaudessa |
| TOP3ADNA topoisomerase III alpha | Joskus (5–29%) | 1 sairaudessa |
| TP53tumor protein p53 | Joskus (5–29%) | 2 sairaudessa |
| TRAPPC11trafficking protein particle complex subunit 11 | Joskus (5–29%) | 1 sairaudessa |
| TRRAPtransformation/transcription domain associated protein | Joskus (5–29%) | 1 sairaudessa |
| TTLL5tubulin tyrosine ligase like 5 | Joskus (5–29%) | 1 sairaudessa |
| TTPAalpha tocopherol transfer protein | Joskus (5–29%) | 1 sairaudessa |
| TUBB4Atubulin beta 4A class IVa | Joskus (5–29%) | 1 sairaudessa |
| TWNKtwinkle mtDNA helicase | Joskus (5–29%) | 1 sairaudessa |
| UBAP1Lubiquitin associated protein 1 like | Joskus (5–29%) | 1 sairaudessa |
| UBAP2Lubiquitin associated protein 2 like | Joskus (5–29%) | 1 sairaudessa |
| UBE2Tubiquitin conjugating enzyme E2 T | Joskus (5–29%) | 1 sairaudessa |
| UBE4Bubiquitination factor E4B | Joskus (5–29%) | 1 sairaudessa |
| UNC119unc-119 lipid binding chaperone | Joskus (5–29%) | 1 sairaudessa |
| WDR11WD repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| XRCC2X-ray repair cross complementing 2 | Joskus (5–29%) | 1 sairaudessa |
| YAP1Yes1 associated transcriptional regulator | Joskus (5–29%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| ACBD6acyl-CoA binding domain containing 6 | Harvinainen (1–4 %) | 1 sairaudessa |
| BRAT1BRCA1 associated ATM activator 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| FDX2ferredoxin 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GRK1G protein-coupled receptor kinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ABCA1ATP binding cassette subfamily A member 1 | Ei kirjattu | 1 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Ei kirjattu | 1 sairaudessa |
| ARXaristaless related homeobox | Ei kirjattu | 1 sairaudessa |
| CA2carbonic anhydrase 2 | Ei kirjattu | 1 sairaudessa |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Ei kirjattu | 1 sairaudessa |
| CKAP2Lcytoskeleton associated protein 2L | Ei kirjattu | 1 sairaudessa |
| CNTNAP1contactin associated protein 1 | Ei kirjattu | 1 sairaudessa |
| COL17A1collagen type XVII alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| COQ7coenzyme Q7, hydroxylase | Ei kirjattu | 1 sairaudessa |
| CRYAAcrystallin alpha A | Ei kirjattu | 1 sairaudessa |
| CRYGCcrystallin gamma C | Ei kirjattu | 1 sairaudessa |
| DTNBP1dystrobrevin binding protein 1 | Ei kirjattu | 1 sairaudessa |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| ELOVL4ELOVL fatty acid elongase 4 | Ei kirjattu | 1 sairaudessa |
| FHfumarate hydratase | Ei kirjattu | 1 sairaudessa |
| GDF3growth differentiation factor 3 | Ei kirjattu | 1 sairaudessa |
| GDF6growth differentiation factor 6 | Ei kirjattu | 1 sairaudessa |
| GPR179G protein-coupled receptor 179 | Ei kirjattu | 1 sairaudessa |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ei kirjattu | 1 sairaudessa |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Ei kirjattu | 1 sairaudessa |
| ISCA2iron-sulfur cluster assembly 2 | Ei kirjattu | 1 sairaudessa |
| LRPAP1LDL receptor related protein associated protein 1 | Ei kirjattu | 1 sairaudessa |
| MBD5methyl-CpG binding domain protein 5 | Ei kirjattu | 1 sairaudessa |
| MC1Rmelanocortin 1 receptor | Ei kirjattu | 1 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Ei kirjattu | 1 sairaudessa |
| MIR184microRNA 184 | Ei kirjattu | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Ei kirjattu | 1 sairaudessa |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ei kirjattu | 1 sairaudessa |
| OSGEPO-sialoglycoprotein endopeptidase | Ei kirjattu | 1 sairaudessa |
| PHF6PHD finger protein 6 | Ei kirjattu | 1 sairaudessa |
| PHOX2Apaired like homeobox 2A | Ei kirjattu | 1 sairaudessa |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ei kirjattu | 1 sairaudessa |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ei kirjattu | 1 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| POLA1DNA polymerase alpha 1, catalytic subunit | Ei kirjattu | 1 sairaudessa |
| POMKprotein O-mannose kinase | Ei kirjattu | 1 sairaudessa |
| PORCNporcupine O-acyltransferase | Ei kirjattu | 1 sairaudessa |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Ei kirjattu | 1 sairaudessa |
| PRDX1peroxiredoxin 1 | Ei kirjattu | 1 sairaudessa |
| PRNPprion protein (Kanno blood group) | Ei kirjattu | 1 sairaudessa |
| RBP4retinol binding protein 4 | Ei kirjattu | 1 sairaudessa |
| SLC45A2solute carrier family 45 member 2 | Ei kirjattu | 1 sairaudessa |
| SYT1synaptotagmin 1 | Ei kirjattu | 1 sairaudessa |
| TACSTD2tumor associated calcium signal transducer 2 | Ei kirjattu | 1 sairaudessa |
| TCF4transcription factor 4 | Ei kirjattu | 1 sairaudessa |
| TDO2tryptophan 2,3-dioxygenase | Ei kirjattu | 1 sairaudessa |
| TMEM126Atransmembrane protein 126A | Ei kirjattu | 1 sairaudessa |
| TP53RKTP53 regulating kinase | Ei kirjattu | 1 sairaudessa |
| TREX1three prime repair exonuclease 1 | Ei kirjattu | 1 sairaudessa |
| TSEN34tRNA splicing endonuclease subunit 34 | Ei kirjattu | 1 sairaudessa |
| TSFMTs translation elongation factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
| TTRtransthyretin | Ei kirjattu | 1 sairaudessa |
| USP45ubiquitin specific peptidase 45 | Ei kirjattu | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Ei kirjattu | 1 sairaudessa |
| WDR45BWD repeat domain 45B | Ei kirjattu | 1 sairaudessa |
| ZFYVE26zinc finger FYVE-type containing 26 | 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