Cecha
Increased reflexes
Nazwa kliniczna: Hyperreflexia
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Podsumowanie
- Znana także jako
- Increased deep tendon reflexes
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test635 genów powiązanych z Increased reflexes
Zmiany w tych genach powodują rzadkie choroby, w których występuje Increased reflexes. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABAT4-aminobutyrate aminotransferase | Zawsze | W 2 chorobach |
| ABCB1ATP binding cassette subfamily B member 1 | Zawsze | W 1 chorobie |
| ABCB7ATP binding cassette subfamily B member 7 | Zawsze | W 2 chorobach |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Zawsze | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zawsze | W 1 chorobie |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Zawsze | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Zawsze | W 3 chorobach |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Zawsze | W 5 chorobach |
| AMACRalpha-methylacyl-CoA racemase | Zawsze | W 1 chorobie |
| AMPD2adenosine monophosphate deaminase 2 | Zawsze | W 3 chorobach |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Zawsze | W 2 chorobach |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Zawsze | W 2 chorobach |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Zawsze | W 2 chorobach |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Zawsze | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Zawsze | W 3 chorobach |
| ATXN7ataxin 7 | Zawsze | W 2 chorobach |
| ATXN7L3ataxin 7 like 3 | Zawsze | W 1 chorobie |
| BCAS3BCAS3 microtubule associated cell migration factor | Zawsze | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Zawsze | W 2 chorobach |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Zawsze | W 5 chorobach |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Zawsze | W 1 chorobie |
| CASP2caspase 2 | Zawsze | W 1 chorobie |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Zawsze | W 1 chorobie |
| CCT5chaperonin containing TCP1 subunit 5 | Zawsze | W 2 chorobach |
| CHKAcholine kinase alpha | Zawsze | W 1 chorobie |
| CHP1calcineurin like EF-hand protein 1 | Zawsze | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Zawsze | W 2 chorobach |
| COG4component of oligomeric golgi complex 4 | Zawsze | W 2 chorobach |
| CPT1Ccarnitine palmitoyltransferase 1C | Zawsze | W 2 chorobach |
| CRATcarnitine O-acetyltransferase | Zawsze | W 1 chorobie |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Zawsze | W 1 chorobie |
| CWF19L1CWF19 like cell cycle control factor 1 | Zawsze | W 1 chorobie |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Zawsze | W 1 chorobie |
| DDHD1DDHD domain containing 1 | Zawsze | W 2 chorobach |
| DDHD2DDHD domain containing 2 | Zawsze | W 1 chorobie |
| DNM1dynamin 1 | Zawsze | W 1 chorobie |
| DNM1Ldynamin 1L | Zawsze | W 1 chorobie |
| DSTYKdual serine/threonine and tyrosine protein kinase | Zawsze | W 2 chorobach |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| ELP2elongator acetyltransferase complex subunit 2 | Zawsze | W 1 chorobie |
Pokaż jeszcze 595 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Zawsze | W 1 chorobie |
| ERLIN1ER lipid raft associated 1 | Zawsze | W 2 chorobach |
| ESAMendothelial cell adhesion molecule | Zawsze | W 1 chorobie |
| EXOC8exocyst complex component 8 | Zawsze | W 1 chorobie |
| EXOSC5exosome component 5 | Zawsze | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Zawsze | W 2 chorobach |
| FBXL4F-box and leucine rich repeat protein 4 | Zawsze | W 1 chorobie |
| FBXO7F-box protein 7 | Zawsze | W 2 chorobach |
| FEM1Bfem-1 homolog B | Zawsze | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Zawsze | W 1 chorobie |
| GBA2glucosylceramidase beta 2 | Zawsze | W 2 chorobach |
| GCH1GTP cyclohydrolase 1 | Zawsze | W 1 chorobie |
| GCSHglycine cleavage system protein H | Zawsze | W 1 chorobie |
| GDAP2ganglioside induced differentiation associated protein 2 | Zawsze | W 1 chorobie |
| GGT1gamma-glutamyltransferase 1 | Zawsze | W 2 chorobach |
| GJC2gap junction protein gamma 2 | Zawsze | W 1 chorobie |
| GLRBglycine receptor beta | Zawsze | W 2 chorobach |
| GPHNgephyrin | Zawsze | W 2 chorobach |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Zawsze | W 1 chorobie |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Zawsze | W 1 chorobie |
| GTPBP1GTP binding protein 1 | Zawsze | W 1 chorobie |
| HEXBhexosaminidase subunit beta | Zawsze | W 2 chorobach |
| HSPD1heat shock protein family D (Hsp60) member 1 | Zawsze | W 3 chorobach |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Zawsze | W 1 chorobie |
| IREB2iron responsive element binding protein 2 | Zawsze | W 1 chorobie |
| ISCA1iron-sulfur cluster assembly 1 | Zawsze | W 2 chorobach |
| KATNB1katanin regulatory subunit B1 | Zawsze | W 1 chorobie |
| MAGmyelin associated glycoprotein | Zawsze | W 1 chorobie |
| MARS1methionyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Zawsze | W 2 chorobach |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Zawsze | W 1 chorobie |
| MED17mediator complex subunit 17 | Zawsze | W 1 chorobie |
| MFFmitochondrial fission factor | Zawsze | W 2 chorobach |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Zawsze | W 2 chorobach |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Zawsze | W 1 chorobie |
| MOCS3molybdenum cofactor synthesis 3 | Zawsze | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Zawsze | W 2 chorobach |
| NDC1NDC1 transmembrane nucleoporin | Zawsze | W 1 chorobie |
| NDE1nudE neurodevelopment protein 1 | Zawsze | W 2 chorobach |
| NEK1NIMA related kinase 1 | Zawsze | W 2 chorobach |
| NKX6-2NK6 homeobox 2 | Zawsze | W 2 chorobach |
| NOP56NOP56 ribonucleoprotein | Zawsze | W 2 chorobach |
| NT5C25'-nucleotidase, cytosolic II | Zawsze | W 2 chorobach |
| PCLOpiccolo presynaptic cytomatrix protein | Zawsze | W 1 chorobie |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Zawsze | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Zawsze | W 1 chorobie |
| PEX3peroxisomal biogenesis factor 3 | Zawsze | W 2 chorobach |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Zawsze | W 2 chorobach |
| PI4KAphosphatidylinositol 4-kinase alpha | Zawsze | W 2 chorobach |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 2 chorobach |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| PRKNparkin RBR E3 ubiquitin protein ligase | Zawsze | W 2 chorobach |
| PSAPprosaposin | Zawsze | W 3 chorobach |
| RNF220ring finger protein 220 | Zawsze | W 1 chorobie |
| RTN2reticulon 2 | Zawsze | W 3 chorobach |
| SAMD9Lsterile alpha motif domain containing 9 like | Zawsze | W 2 chorobach |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Zawsze | W 1 chorobie |
| SEC31ASEC31 homolog A, COPII component | Zawsze | W 1 chorobie |
| SELENOIselenoprotein I | Zawsze | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Zawsze | W 1 chorobie |
| SLC12A2solute carrier family 12 member 2 | Zawsze | W 1 chorobie |
| SLC18A2solute carrier family 18 member A2 | Zawsze | W 1 chorobie |
| SLC31A1solute carrier family 31 member 1 | Zawsze | W 1 chorobie |
| SOD1superoxide dismutase 1 | Zawsze | W 3 chorobach |
| SPARTspartin | Zawsze | W 2 chorobach |
| SPG21SPG21 abhydrolase domain containing, maspardin | Zawsze | W 2 chorobach |
| SPTBN2spectrin beta, non-erythrocytic 2 | Zawsze | W 3 chorobach |
| TCTN2tectonic family member 2 | Zawsze | W 1 chorobie |
| TFGtrafficking from ER to golgi regulator | Zawsze | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Zawsze | W 1 chorobie |
| TMEM63Ctransmembrane protein 63C | Zawsze | W 1 chorobie |
| TMX2thioredoxin related transmembrane protein 2 | Zawsze | W 1 chorobie |
| TNRtenascin R | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Zawsze | W 1 chorobie |
| TTBK2tau tubulin kinase 2 | Zawsze | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Zawsze | W 2 chorobach |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Zawsze | W 1 chorobie |
| VPS37AVPS37A subunit of ESCRT-I | Zawsze | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Zawsze | W 2 chorobach |
| ZIC2Zic family zinc finger 2 | Zawsze | W 1 chorobie |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Bardzo często (80–99%) | W 1 chorobie |
| ACOX1acyl-CoA oxidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Bardzo często (80–99%) | W 1 chorobie |
| ATAD1ATPase family AAA domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| ATP8A2ATPase phospholipid transporting 8A2 | Bardzo często (80–99%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Bardzo często (80–99%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Bardzo często (80–99%) | W 1 chorobie |
| CA8carbonic anhydrase 8 (inactive) | Bardzo często (80–99%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| CLTRNcollectrin, amino acid transport regulator | Bardzo często (80–99%) | W 1 chorobie |
| CTNNA2catenin alpha 2 | Bardzo często (80–99%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Bardzo często (80–99%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Bardzo często (80–99%) | W 1 chorobie |
| ELNelastin | Bardzo często (80–99%) | W 2 chorobach |
| ERLIN2ER lipid raft associated 2 | Bardzo często (80–99%) | W 3 chorobach |
| FA2Hfatty acid 2-hydroxylase | Bardzo często (80–99%) | W 2 chorobach |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Bardzo często (80–99%) | W 1 chorobie |
| GLRA1glycine receptor alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| GM2Aganglioside GM2 activator | Bardzo często (80–99%) | W 2 chorobach |
| GPT2glutamic--pyruvic transaminase 2 | Bardzo często (80–99%) | W 2 chorobach |
| GRM1glutamate metabotropic receptor 1 | Bardzo często (80–99%) | W 2 chorobach |
| GTF2Igeneral transcription factor IIi | Bardzo często (80–99%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 2 chorobach |
| HTThuntingtin | Bardzo często (80–99%) | W 4 chorobach |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Bardzo często (80–99%) | W 3 chorobach |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Bardzo często (80–99%) | W 2 chorobach |
| KIF1Ckinesin family member 1C | Bardzo często (80–99%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Bardzo często (80–99%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Bardzo często (80–99%) | W 2 chorobach |
| LIMK1LIM domain kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| MCOLN1mucolipin TRP cation channel 1 | Bardzo często (80–99%) | W 2 chorobach |
| METTL27methyltransferase like 27 | Bardzo często (80–99%) | W 1 chorobie |
| MTPAPmitochondrial poly(A) polymerase | Bardzo często (80–99%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Bardzo często (80–99%) | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Bardzo często (80–99%) | W 1 chorobie |
| OCLNoccludin | Bardzo często (80–99%) | W 2 chorobach |
| PDYNprodynorphin | Bardzo często (80–99%) | W 2 chorobach |
| PEX1peroxisomal biogenesis factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| PEX10peroxisomal biogenesis factor 10 | Bardzo często (80–99%) | W 2 chorobach |
| PEX11Bperoxisomal biogenesis factor 11 beta | Bardzo często (80–99%) | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Bardzo często (80–99%) | W 1 chorobie |
| PEX13peroxisomal biogenesis factor 13 | Bardzo często (80–99%) | W 1 chorobie |
| PEX14peroxisomal biogenesis factor 14 | Bardzo często (80–99%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Bardzo często (80–99%) | W 1 chorobie |
| PEX19peroxisomal biogenesis factor 19 | Bardzo często (80–99%) | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| PEX26peroxisomal biogenesis factor 26 | Bardzo często (80–99%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Bardzo często (80–99%) | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Bardzo często (80–99%) | W 1 chorobie |
| PLP1proteolipid protein 1 | Bardzo często (80–99%) | W 3 chorobach |
| PRUNE1prune exopolyphosphatase 1 | Bardzo często (80–99%) | W 2 chorobach |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Bardzo często (80–99%) | W 2 chorobach |
| SLC25A15solute carrier family 25 member 15 | Bardzo często (80–99%) | W 2 chorobach |
| SLC2A3solute carrier family 2 member 3 | Bardzo często (80–99%) | W 1 chorobie |
| SLC33A1solute carrier family 33 member 1 | Bardzo często (80–99%) | W 1 chorobie |
| SLC6A19solute carrier family 6 member 19 | Bardzo często (80–99%) | W 2 chorobach |
| SLC6A5solute carrier family 6 member 5 | Bardzo często (80–99%) | W 1 chorobie |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Bardzo często (80–99%) | W 1 chorobie |
| STX1Asyntaxin 1A | Bardzo często (80–99%) | W 1 chorobie |
| TBL2transducin beta like 2 | Bardzo często (80–99%) | W 1 chorobie |
| TGM6transglutaminase 6 | Bardzo często (80–99%) | W 2 chorobach |
| TMEM270transmembrane protein 270 | Bardzo często (80–99%) | W 1 chorobie |
| TOE1target of EGR1, exonuclease | Bardzo często (80–99%) | W 2 chorobach |
| TUBB2Btubulin beta 2B class IIb | Bardzo często (80–99%) | W 1 chorobie |
| UBAP1ubiquitin associated protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| VAMP1vesicle associated membrane protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| VLDLRvery low density lipoprotein receptor | Bardzo często (80–99%) | W 2 chorobach |
| VPS37DVPS37D subunit of ESCRT-I | Bardzo często (80–99%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Bardzo często (80–99%) | W 2 chorobach |
| WDR81WD repeat domain 81 | Bardzo często (80–99%) | W 1 chorobie |
| ZNHIT3zinc finger HIT-type containing 3 | Bardzo często (80–99%) | W 2 chorobach |
| ABCD1ATP binding cassette subfamily D member 1 | Często (30–79%) | W 1 chorobie |
| ACSL4acyl-CoA synthetase long chain family member 4 | Często (30–79%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Często (30–79%) | W 1 chorobie |
| ADCY5adenylate cyclase 5 | Często (30–79%) | W 2 chorobach |
| ADGRG1adhesion G protein-coupled receptor G1 | Często (30–79%) | W 2 chorobach |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Często (30–79%) | W 1 chorobie |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Często (30–79%) | W 1 chorobie |
| ANGangiogenin | Często (30–79%) | W 1 chorobie |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Często (30–79%) | W 1 chorobie |
| ANO10anoctamin 10 | Często (30–79%) | W 1 chorobie |
| ANXA11annexin A11 | Często (30–79%) | W 1 chorobie |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Często (30–79%) | W 1 chorobie |
| ARXaristaless related homeobox | Często (30–79%) | W 3 chorobach |
| ASPAaspartoacylase | Często (30–79%) | W 2 chorobach |
| ASPMassembly factor for spindle microtubules | Często (30–79%) | W 1 chorobie |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Często (30–79%) | W 1 chorobie |
| ATXN2ataxin 2 | Często (30–79%) | W 1 chorobie |
| ATXN3ataxin 3 | Często (30–79%) | W 3 chorobach |
| ATXN8ataxin 8 | Często (30–79%) | W 1 chorobie |
| ATXN8OSATXN8 opposite strand lncRNA | Często (30–79%) | W 1 chorobie |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Często (30–79%) | W 2 chorobach |
| BCKDKbranched chain keto acid dehydrogenase kinase | Często (30–79%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Często (30–79%) | W 3 chorobach |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Często (30–79%) | W 2 chorobach |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 2 chorobach |
| CC2D2Acoiled-coil and C2 domain containing 2A | Często (30–79%) | W 1 chorobie |
| CCDC47coiled-coil domain containing 47 | Często (30–79%) | W 1 chorobie |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Często (30–79%) | W 2 chorobach |
| CCNFcyclin F | Często (30–79%) | W 1 chorobie |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Często (30–79%) | W 1 chorobie |
| CDK6cyclin dependent kinase 6 | Często (30–79%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Często (30–79%) | W 1 chorobie |
| CENPEcentromere protein E | Często (30–79%) | W 1 chorobie |
| CEP135centrosomal protein 135 | Często (30–79%) | W 1 chorobie |
| CEP152centrosomal protein 152 | Często (30–79%) | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Często (30–79%) | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Często (30–79%) | W 1 chorobie |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Często (30–79%) | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Często (30–79%) | W 1 chorobie |
| CHMP2Bcharged multivesicular body protein 2B | Często (30–79%) | W 3 chorobach |
| CITcitron rho-interacting serine/threonine kinase | Często (30–79%) | W 2 chorobach |
| CLPBClpB family mitochondrial disaggregase | Często (30–79%) | W 2 chorobach |
| COPB2coat protein complex I subunit beta 2 | Często (30–79%) | W 1 chorobie |
| COQ7coenzyme Q7, hydroxylase | Często (30–79%) | W 1 chorobie |
| CPAPcentrosome assembly and centriole elongation protein | Często (30–79%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Często (30–79%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| DAOD-amino acid oxidase | Często (30–79%) | W 1 chorobie |
| DBR1debranching RNA lariats 1 | Często (30–79%) | W 1 chorobie |
| DCTN1dynactin subunit 1 | Często (30–79%) | W 2 chorobach |
| DDCdopa decarboxylase | Często (30–79%) | W 1 chorobie |
| DMXL2Dmx like 2 | Często (30–79%) | W 1 chorobie |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Często (30–79%) | W 2 chorobach |
| EMILIN1elastin microfibril interfacer 1 | Często (30–79%) | W 1 chorobie |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Często (30–79%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Często (30–79%) | W 2 chorobach |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 3 chorobach |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Często (30–79%) | W 2 chorobach |
| FAM177A1family with sequence similarity 177 member A1 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| FRMPD4FERM and PDZ domain containing 4 | Często (30–79%) | W 1 chorobie |
| FTH1ferritin heavy chain 1 | Często (30–79%) | W 1 chorobie |
| FUSFUS RNA binding protein | Często (30–79%) | W 1 chorobie |
| GFAPglial fibrillary acidic protein | Często (30–79%) | W 2 chorobach |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 1 chorobie |
| GJB1gap junction protein beta 1 | Często (30–79%) | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Często (30–79%) | W 1 chorobie |
| GLRX5glutaredoxin 5 | Często (30–79%) | W 2 chorobach |
| GLT8D1glycosyltransferase 8 domain containing 1 | Często (30–79%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Często (30–79%) | W 1 chorobie |
| GNAQG protein subunit alpha q | Często (30–79%) | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Często (30–79%) | W 2 chorobach |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Często (30–79%) | W 2 chorobach |
| GRM7glutamate metabotropic receptor 7 | Często (30–79%) | W 2 chorobach |
| GTPBP2GTP binding protein 2 | Często (30–79%) | W 1 chorobie |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Często (30–79%) | W 1 chorobie |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Często (30–79%) | W 1 chorobie |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Często (30–79%) | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Często (30–79%) | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Często (30–79%) | W 2 chorobach |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Często (30–79%) | W 2 chorobach |
| KCND3potassium voltage-gated channel subfamily D member 3 | Często (30–79%) | W 2 chorobach |
| KCNK4potassium two pore domain channel subfamily K member 4 | Często (30–79%) | W 1 chorobie |
| KDM5Clysine demethylase 5C | Często (30–79%) | W 2 chorobach |
| KIDINS220kinase D interacting substrate 220 | Często (30–79%) | W 1 chorobie |
| KIF14kinesin family member 14 | Często (30–79%) | W 1 chorobie |
| KNL1kinetochore scaffold 1 | Często (30–79%) | W 1 chorobie |
| KPNA3karyopherin subunit alpha 3 | Często (30–79%) | W 1 chorobie |
| LMNB1lamin B1 | Często (30–79%) | W 1 chorobie |
| LRP12LDL receptor related protein 12 | Często (30–79%) | W 1 chorobie |
| MATR3matrin 3 | Często (30–79%) | W 3 chorobach |
| MCM7minichromosome maintenance complex component 7 | Często (30–79%) | W 1 chorobie |
| MCPH1microcephalin 1 | Często (30–79%) | W 1 chorobie |
| METTL5methyltransferase 5, N6-adenosine | Często (30–79%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 3 chorobach |
| NARS1asparaginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| NCAPD3non-SMC condensin II complex subunit D3 | Często (30–79%) | W 1 chorobie |
| NEFHneurofilament heavy chain | Często (30–79%) | W 2 chorobach |
| NEUROD2neuronal differentiation 2 | Często (30–79%) | W 1 chorobie |
| NOTCH2NLCnotch 2 N-terminal like C | Często (30–79%) | W 1 chorobie |
| NSRP1nuclear speckle splicing regulatory protein 1 | Często (30–79%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Często (30–79%) | W 1 chorobie |
| NUP214nucleoporin 214 | Często (30–79%) | W 1 chorobie |
| NUP37nucleoporin 37 | Często (30–79%) | W 1 chorobie |
| NUP54nucleoporin 54 | Często (30–79%) | W 1 chorobie |
| NUP62nucleoporin 62 | Często (30–79%) | W 1 chorobie |
| OPTNoptineurin | Często (30–79%) | W 1 chorobie |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| PANK2pantothenate kinase 2 | Często (30–79%) | W 3 chorobach |
| PDCD6IPprogrammed cell death 6 interacting protein | Często (30–79%) | W 1 chorobie |
| PFN1profilin 1 | Często (30–79%) | W 1 chorobie |
| PGBD5piggyBac transposable element derived 5 | Często (30–79%) | W 1 chorobie |
| PHC1polyhomeotic homolog 1 | Często (30–79%) | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Często (30–79%) | W 2 chorobach |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Często (30–79%) | W 2 chorobach |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Często (30–79%) | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Często (30–79%) | W 4 chorobach |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 1 chorobie |
| PMPCApeptidase, mitochondrial processing subunit alpha | Często (30–79%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Często (30–79%) | W 1 chorobie |
| PNPLA6patatin like domain 6, lysophospholipase | Często (30–79%) | W 2 chorobach |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 2 chorobach |
| POLR3BRNA polymerase III subunit B | Często (30–79%) | W 3 chorobach |
| POU3F4POU class 3 homeobox 4 | Często (30–79%) | W 1 chorobie |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Często (30–79%) | W 2 chorobach |
| PRDM13PR/SET domain 13 | Często (30–79%) | W 1 chorobie |
| PRDM8PR/SET domain 8 | Często (30–79%) | W 2 chorobach |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Często (30–79%) | W 2 chorobach |
| PRPHperipherin | Często (30–79%) | W 2 chorobach |
| PSAT1phosphoserine aminotransferase 1 | Często (30–79%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Często (30–79%) | W 3 chorobach |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Często (30–79%) | W 2 chorobach |
| RARS1arginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| RBSNrabenosyn, RAB effector | Często (30–79%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 2 chorobach |
| RNF2ring finger protein 2 | Często (30–79%) | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Często (30–79%) | W 1 chorobie |
| RPS6KC1ribosomal protein S6 kinase C1 | Często (30–79%) | W 1 chorobie |
| RUSC2RUN and SH3 domain containing 2 | Często (30–79%) | W 1 chorobie |
| SARS1seryl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| SASS6SAS-6 centriolar assembly protein | Często (30–79%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Często (30–79%) | W 2 chorobach |
| SCYL1SCY1 like pseudokinase 1 | Często (30–79%) | W 2 chorobach |
| SEMA6Bsemaphorin 6B | Często (30–79%) | W 1 chorobie |
| SIK1salt inducible kinase 1 | Często (30–79%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Często (30–79%) | W 2 chorobach |
| SLC19A3solute carrier family 19 member 3 | Często (30–79%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Często (30–79%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Często (30–79%) | W 5 chorobach |
| SLC32A1solute carrier family 32 member 1 | Często (30–79%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Często (30–79%) | W 1 chorobie |
| SLC39A14solute carrier family 39 member 14 | Często (30–79%) | W 2 chorobach |
| SLC4A10solute carrier family 4 member 10 | Często (30–79%) | W 1 chorobie |
| SLC9A6solute carrier family 9 member A6 | Często (30–79%) | W 1 chorobie |
| SNCAsynuclein alpha | Często (30–79%) | W 2 chorobach |
| SPRsepiapterin reductase | Często (30–79%) | W 1 chorobie |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Często (30–79%) | W 1 chorobie |
| SQSTM1sequestosome 1 | Często (30–79%) | W 4 chorobach |
| SRPX2sushi repeat containing protein X-linked 2 | Często (30–79%) | W 1 chorobie |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | Często (30–79%) | W 3 chorobach |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Często (30–79%) | W 1 chorobie |
| TAF13TATA-box binding protein associated factor 13 | Często (30–79%) | W 1 chorobie |
| TAF15TATA-box binding protein associated factor 15 | Często (30–79%) | W 1 chorobie |
| TAF2TATA-box binding protein associated factor 2 | Często (30–79%) | W 2 chorobach |
| TARDBPTAR DNA binding protein | Często (30–79%) | W 1 chorobie |
| TBK1TANK binding kinase 1 | Często (30–79%) | W 3 chorobach |
| TMEM67transmembrane protein 67 | Często (30–79%) | W 2 chorobach |
| TPP1tripeptidyl peptidase 1 | Często (30–79%) | W 2 chorobach |
| TRAPPC10trafficking protein particle complex subunit 10 | Często (30–79%) | W 1 chorobie |
| TRAPPC14trafficking protein particle complex subunit 14 | Często (30–79%) | W 1 chorobie |
| TREM2triggering receptor expressed on myeloid cells 2 | Często (30–79%) | W 2 chorobach |
| TRIM8tripartite motif containing 8 | Często (30–79%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Często (30–79%) | W 1 chorobie |
| TRMT5tRNA methyltransferase 5 | Często (30–79%) | W 1 chorobie |
| TTRtransthyretin | Często (30–79%) | W 1 chorobie |
| TUBA4Atubulin alpha 4a | Często (30–79%) | W 1 chorobie |
| UBQLN2ubiquilin 2 | Często (30–79%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Często (30–79%) | W 1 chorobie |
| UGDHUDP-glucose 6-dehydrogenase | Często (30–79%) | W 1 chorobie |
| UGP2UDP-glucose pyrophosphorylase 2 | Często (30–79%) | W 1 chorobie |
| UNC13Aunc-13 homolog A | Często (30–79%) | W 1 chorobie |
| VAPBVAMP associated protein B and C | Często (30–79%) | W 1 chorobie |
| VCPvalosin containing protein | Często (30–79%) | W 2 chorobach |
| VPS13Cvacuolar protein sorting 13 homolog C | Często (30–79%) | W 2 chorobach |
| WARS1tryptophanyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| WDR62WD repeat domain 62 | Często (30–79%) | W 2 chorobach |
| WWOXWW domain containing oxidoreductase | Często (30–79%) | W 1 chorobie |
| ZFRzinc finger RNA binding protein | Często (30–79%) | W 1 chorobie |
| AAASaladin WD repeat nucleoporin | Czasami (5–29%) | W 2 chorobach |
| ACTA1actin alpha 1, skeletal muscle | Czasami (5–29%) | W 1 chorobie |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Czasami (5–29%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 2 chorobach |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| ATP5MKATP synthase membrane subunit k | Czasami (5–29%) | W 1 chorobie |
| ATXN10ataxin 10 | Czasami (5–29%) | W 2 chorobach |
| AUTS2activator of transcription and developmental regulator AUTS2 | Czasami (5–29%) | W 1 chorobie |
| BEAN1brain expressed associated with NEDD4 1 | Czasami (5–29%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Czasami (5–29%) | W 2 chorobach |
| BRCA1BRCA1 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRIP1BRCA1 interacting DNA helicase 1 | Czasami (5–29%) | W 1 chorobie |
| C4Acomplement C4A (Chido/Rodgers blood group) | Czasami (5–29%) | W 1 chorobie |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Czasami (5–29%) | W 2 chorobach |
| CCR1C-C motif chemokine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| CD40LGCD40 ligand | Czasami (5–29%) | W 1 chorobie |
| COQ8Acoenzyme Q8A | Czasami (5–29%) | W 2 chorobach |
| CSF1Rcolony stimulating factor 1 receptor | Czasami (5–29%) | W 2 chorobach |
| CTSFcathepsin F | Czasami (5–29%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Czasami (5–29%) | W 1 chorobie |
| DHX9DExH-box helicase 9 | Czasami (5–29%) | W 1 chorobie |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Czasami (5–29%) | W 1 chorobie |
| DNMT1DNA methyltransferase 1 | Czasami (5–29%) | W 2 chorobach |
| DPYDdihydropyrimidine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| DYMdymeclin | Czasami (5–29%) | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| EXOSC3exosome component 3 | Czasami (5–29%) | W 2 chorobach |
| EXOSC8exosome component 8 | Czasami (5–29%) | W 2 chorobach |
| EXOSC9exosome component 9 | Czasami (5–29%) | W 2 chorobach |
| FAAP100FA core complex associated protein 100 | Czasami (5–29%) | W 1 chorobie |
| FANCAFA complementation group A | Czasami (5–29%) | W 1 chorobie |
| FANCBFA complementation group B | Czasami (5–29%) | W 1 chorobie |
| FANCCFA complementation group C | Czasami (5–29%) | W 1 chorobie |
| FANCD2FA complementation group D2 | Czasami (5–29%) | W 1 chorobie |
| FANCEFA complementation group E | Czasami (5–29%) | W 1 chorobie |
| FANCFFA complementation group F | Czasami (5–29%) | W 1 chorobie |
| FANCGFA complementation group G | Czasami (5–29%) | W 1 chorobie |
| FANCIFA complementation group I | Czasami (5–29%) | W 1 chorobie |
| FANCLFA complementation group L | Czasami (5–29%) | W 1 chorobie |
| FANCMFA complementation group M | Czasami (5–29%) | W 1 chorobie |
| FASFas cell surface death receptor | Czasami (5–29%) | W 1 chorobie |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FKRPfukutin related protein | Czasami (5–29%) | W 1 chorobie |
| GAD1glutamate decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| GALCgalactosylceramidase | Czasami (5–29%) | W 1 chorobie |
| GARS1glycyl-tRNA synthetase 1 | Czasami (5–29%) | W 2 chorobach |
| GBA1glucosylceramidase beta 1 | Czasami (5–29%) | W 2 chorobach |
| GCLCglutamate-cysteine ligase catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Czasami (5–29%) | W 1 chorobie |
| GMPPAGDP-mannose pyrophosphorylase A | Czasami (5–29%) | W 2 chorobach |
| GMPPBGDP-mannose pyrophosphorylase B | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| GRNgranulin precursor | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Czasami (5–29%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Czasami (5–29%) | W 1 chorobie |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Czasami (5–29%) | W 2 chorobach |
| HTRA2HtrA serine peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| IFNGR1interferon gamma receptor 1 | Czasami (5–29%) | W 1 chorobie |
| IL10interleukin 10 | Czasami (5–29%) | W 1 chorobie |
| IL12Ainterleukin 12A | Czasami (5–29%) | W 1 chorobie |
| IL12A-AS1IL12A antisense RNA 1 | Czasami (5–29%) | W 1 chorobie |
| IL23Rinterleukin 23 receptor | Czasami (5–29%) | W 1 chorobie |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Czasami (5–29%) | W 1 chorobie |
| ISCA2iron-sulfur cluster assembly 2 | Czasami (5–29%) | W 2 chorobach |
| JPH3junctophilin 3 | Czasami (5–29%) | W 2 chorobach |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Czasami (5–29%) | W 1 chorobie |
| KLRC4killer cell lectin like receptor C4 | Czasami (5–29%) | W 1 chorobie |
| LRRK2leucine rich repeat kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MAD2L2mitotic arrest deficient 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| MAPTmicrotubule associated protein tau | Czasami (5–29%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Czasami (5–29%) | W 1 chorobie |
| MEFVMEFV innate immunity regulator, pyrin | Czasami (5–29%) | W 1 chorobie |
| MFN2mitofusin 2 | Czasami (5–29%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Czasami (5–29%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Czasami (5–29%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Czasami (5–29%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Czasami (5–29%) | W 2 chorobach |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Czasami (5–29%) | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Czasami (5–29%) | W 1 chorobie |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Czasami (5–29%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Czasami (5–29%) | W 1 chorobie |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Czasami (5–29%) | W 1 chorobie |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Czasami (5–29%) | W 1 chorobie |
| PALB2partner and localizer of BRCA2 | Czasami (5–29%) | W 1 chorobie |
| PARK7Parkinsonism associated deglycase | Czasami (5–29%) | W 1 chorobie |
| PINK1PTEN induced kinase 1 | Czasami (5–29%) | W 2 chorobach |
| PODXLpodocalyxin like | Czasami (5–29%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Czasami (5–29%) | W 1 chorobie |
| POMKprotein O-mannose kinase | Czasami (5–29%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| PPFIA3PPFI scaffold protein A3 | Czasami (5–29%) | W 1 chorobie |
| PPOXprotoporphyrinogen oxidase | Czasami (5–29%) | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| PSEN1presenilin 1 | Czasami (5–29%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 2 chorobach |
| PUS3pseudouridine synthase 3 | Czasami (5–29%) | W 1 chorobie |
| QARS1glutaminyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| RAD51RAD51 recombinase | Czasami (5–29%) | W 1 chorobie |
| RAD51CRAD51 paralog C | Czasami (5–29%) | W 1 chorobie |
| REEP1receptor accessory protein 1 | Czasami (5–29%) | W 2 chorobach |
| RFWD3ring finger and WD repeat domain 3 | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RNASEH1ribonuclease H1 | Czasami (5–29%) | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Czasami (5–29%) | W 2 chorobach |
| SLC29A3solute carrier family 29 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC35C1solute carrier family 35 member C1 | Czasami (5–29%) | W 1 chorobie |
| SLC39A8solute carrier family 39 member 8 | Czasami (5–29%) | W 2 chorobach |
| SLC46A1solute carrier family 46 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLX4SLX4 structure-specific endonuclease subunit | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| STAT4signal transducer and activator of transcription 4 | Czasami (5–29%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Czasami (5–29%) | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Czasami (5–29%) | W 1 chorobie |
| TBX4T-box transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| TICAM1TIR domain containing adaptor molecule 1 | Czasami (5–29%) | W 1 chorobie |
| TIMM50translocase of inner mitochondrial membrane 50 | Czasami (5–29%) | W 2 chorobach |
| TLR3toll like receptor 3 | Czasami (5–29%) | W 1 chorobie |
| TLR4toll like receptor 4 | Czasami (5–29%) | W 1 chorobie |
| TMEM106Btransmembrane protein 106B | Czasami (5–29%) | W 2 chorobach |
| TRAF3TNF receptor associated factor 3 | Czasami (5–29%) | W 1 chorobie |
| TRAPPC11trafficking protein particle complex subunit 11 | Czasami (5–29%) | W 1 chorobie |
| TSEN15tRNA splicing endonuclease subunit 15 | Czasami (5–29%) | W 1 chorobie |
| TTC19tetratricopeptide repeat domain 19 | Czasami (5–29%) | W 1 chorobie |
| UBAC2UBA domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| UBE2Tubiquitin conjugating enzyme E2 T | Czasami (5–29%) | W 1 chorobie |
| UNC93B1unc-93B1 regulator of TLR signaling | Czasami (5–29%) | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Czasami (5–29%) | W 3 chorobach |
| WLSWnt ligand secretion mediator | Czasami (5–29%) | W 1 chorobie |
| XRCC2X-ray repair cross complementing 2 | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| FDX2ferredoxin 2 | Rzadko (1–4%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Nie odnotowano | W 1 chorobie |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Nie odnotowano | W 1 chorobie |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Nie odnotowano | W 1 chorobie |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Nie odnotowano | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Nie odnotowano | W 1 chorobie |
| ARSAarylsulfatase A | Nie odnotowano | W 1 chorobie |
| ATL1atlastin GTPase 1 | Nie odnotowano | W 2 chorobach |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Nie odnotowano | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Nie odnotowano | W 1 chorobie |
| ATRXATRX chromatin remodeler | Nie odnotowano | W 1 chorobie |
| ATXN1ataxin 1 | Nie odnotowano | W 1 chorobie |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Nie odnotowano | W 1 chorobie |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Nie odnotowano | W 1 chorobie |
| C19orf12chromosome 19 open reading frame 12 | Nie odnotowano | W 2 chorobach |
| CAV1caveolin 1 | Nie odnotowano | W 1 chorobie |
| CNTNAP1contactin associated protein 1 | Nie odnotowano | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Nie odnotowano | W 1 chorobie |
| COQ9coenzyme Q9 | Nie odnotowano | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| DENND5ADENN domain containing 5A | Nie odnotowano | W 1 chorobie |
| DGUOKdeoxyguanosine kinase | Nie odnotowano | W 1 chorobie |
| DLATdihydrolipoamide S-acetyltransferase | Nie odnotowano | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nie odnotowano | W 1 chorobie |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Nie odnotowano | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Nie odnotowano | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nie odnotowano | W 1 chorobie |
| FTLferritin light chain | Nie odnotowano | W 1 chorobie |
| GAMTguanidinoacetate N-methyltransferase | Nie odnotowano | W 1 chorobie |
| GANgigaxonin | Nie odnotowano | W 1 chorobie |
| GFM1G elongation factor mitochondrial 1 | Nie odnotowano | W 1 chorobie |
| GLB1galactosidase beta 1 | Nie odnotowano | W 1 chorobie |
| GLDCglycine decarboxylase | Nie odnotowano | W 1 chorobie |
| GLYCTKglycerate kinase | Nie odnotowano | W 1 chorobie |
| HTRA1HtrA serine peptidase 1 | Nie odnotowano | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nie odnotowano | W 1 chorobie |
| IBA57iron-sulfur cluster assembly factor IBA57 | Nie odnotowano | W 1 chorobie |
| JAM2junctional adhesion molecule 2 | Nie odnotowano | W 1 chorobie |
| JAM3junctional adhesion molecule 3 | Nie odnotowano | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Nie odnotowano | W 1 chorobie |
| KIF1Akinesin family member 1A | Nie odnotowano | W 2 chorobach |
| MAN2B1mannosidase alpha class 2B member 1 | Nie odnotowano | W 1 chorobie |
| MAT1Amethionine adenosyltransferase 1A | Nie odnotowano | W 1 chorobie |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Nie odnotowano | W 1 chorobie |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Nie odnotowano | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Nie odnotowano | W 2 chorobach |
| MRPS34mitochondrial ribosomal protein S34 | Nie odnotowano | W 1 chorobie |
| MYORGmyogenesis regulating glycosidase | Nie odnotowano | W 2 chorobach |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nie odnotowano | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Nie odnotowano | W 1 chorobie |
| NALCNsodium leak channel, non-selective | Nie odnotowano | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Nie odnotowano | W 1 chorobie |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Nie odnotowano | W 1 chorobie |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Nie odnotowano | W 1 chorobie |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Nie odnotowano | W 1 chorobie |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Nie odnotowano | W 1 chorobie |
| NEU1neuraminidase 1 | Nie odnotowano | W 1 chorobie |
| NFASCneurofascin | Nie odnotowano | W 1 chorobie |
| NIPA1NIPA magnesium transporter 1 | Nie odnotowano | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Nie odnotowano | W 1 chorobie |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Nie odnotowano | W 1 chorobie |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Nie odnotowano | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nie odnotowano | W 1 chorobie |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Nie odnotowano | W 1 chorobie |
| PAHphenylalanine hydroxylase | Nie odnotowano | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| PCDH12protocadherin 12 | Nie odnotowano | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Nie odnotowano | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Nie odnotowano | W 1 chorobie |
| PLCB1phospholipase C beta 1 | Nie odnotowano | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Nie odnotowano | W 1 chorobie |
| PRKCGprotein kinase C gamma | Nie odnotowano | W 1 chorobie |
| PRNPprion protein (Kanno blood group) | Nie odnotowano | W 1 chorobie |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| RFT1RFT1 glycolipid translocator homolog | Nie odnotowano | W 1 chorobie |
| RLIMring finger protein, LIM domain interacting | Nie odnotowano | W 1 chorobie |
| RNASEH2Cribonuclease H2 subunit C | Nie odnotowano | W 1 chorobie |
| SACSsacsin molecular chaperone | Nie odnotowano | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nie odnotowano | W 1 chorobie |
| SETXsenataxin | Nie odnotowano | W 1 chorobie |
| SHMT2serine hydroxymethyltransferase 2 | Nie odnotowano | W 1 chorobie |
| SLC20A2solute carrier family 20 member 2 | Nie odnotowano | W 1 chorobie |
| SLC52A3solute carrier family 52 member 3 | Nie odnotowano | W 1 chorobie |
| SPASTspastin | Nie odnotowano | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Nie odnotowano | W 1 chorobie |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Nie odnotowano | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Nie odnotowano | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Nie odnotowano | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Nie odnotowano | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Nie odnotowano | W 1 chorobie |
| VPS13Dvacuolar protein sorting 13 homolog D | Nie odnotowano | W 1 chorobie |
| VWA3Bvon Willebrand factor A domain containing 3B | Nie odnotowano | W 1 chorobie |
| WDR73WD repeat domain 73 | Nie odnotowano | W 1 chorobie |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 1 chorobie |
| ZFYVE26zinc finger FYVE-type containing 26 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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