Egenskap
Increased reflexes
Klinisk navn: Hyperreflexia
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Sammendrag
- Også kalt
- Increased deep tendon reflexes
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Increased reflexes forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABAT4-aminobutyrate aminotransferase | Alltid | I 2 tilstander |
| ABCB1ATP binding cassette subfamily B member 1 | Alltid | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Alltid | I 2 tilstander |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Alltid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Alltid | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alltid | I 3 tilstander |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Alltid | I 5 tilstander |
| AMACRalpha-methylacyl-CoA racemase | Alltid | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Alltid | I 3 tilstander |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Alltid | I 2 tilstander |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Alltid | I 2 tilstander |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Alltid | I 2 tilstander |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Alltid | I 2 tilstander |
| ATP13A2ATPase cation transporting 13A2 | Alltid | I 3 tilstander |
| ATXN7ataxin 7 | Alltid | I 2 tilstander |
| ATXN7L3ataxin 7 like 3 | Alltid | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Alltid | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Alltid | I 2 tilstander |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Alltid | I 5 tilstander |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Alltid | I 1 tilstand |
| CASP2caspase 2 | Alltid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CCT5chaperonin containing TCP1 subunit 5 | Alltid | I 2 tilstander |
| CHKAcholine kinase alpha | Alltid | I 1 tilstand |
| CHP1calcineurin like EF-hand protein 1 | Alltid | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Alltid | I 2 tilstander |
| COG4component of oligomeric golgi complex 4 | Alltid | I 2 tilstander |
| CPT1Ccarnitine palmitoyltransferase 1C | Alltid | I 2 tilstander |
| CRATcarnitine O-acetyltransferase | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Alltid | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Alltid | I 1 tilstand |
| DDHD1DDHD domain containing 1 | Alltid | I 2 tilstander |
| DDHD2DDHD domain containing 2 | Alltid | I 1 tilstand |
| DNM1dynamin 1 | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| DSTYKdual serine/threonine and tyrosine protein kinase | Alltid | I 2 tilstander |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| ELP2elongator acetyltransferase complex subunit 2 | Alltid | I 1 tilstand |
Vis 595 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alltid | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Alltid | I 2 tilstander |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| EXOC8exocyst complex component 8 | Alltid | I 1 tilstand |
| EXOSC5exosome component 5 | Alltid | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Alltid | I 2 tilstander |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tilstand |
| FBXO7F-box protein 7 | Alltid | I 2 tilstander |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Alltid | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Alltid | I 2 tilstander |
| GCH1GTP cyclohydrolase 1 | Alltid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GDAP2ganglioside induced differentiation associated protein 2 | Alltid | I 1 tilstand |
| GGT1gamma-glutamyltransferase 1 | Alltid | I 2 tilstander |
| GJC2gap junction protein gamma 2 | Alltid | I 1 tilstand |
| GLRBglycine receptor beta | Alltid | I 2 tilstander |
| GPHNgephyrin | Alltid | I 2 tilstander |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Alltid | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Alltid | I 2 tilstander |
| HSPD1heat shock protein family D (Hsp60) member 1 | Alltid | I 3 tilstander |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Alltid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Alltid | I 2 tilstander |
| KATNB1katanin regulatory subunit B1 | Alltid | I 1 tilstand |
| MAGmyelin associated glycoprotein | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alltid | I 1 tilstand |
| MED17mediator complex subunit 17 | Alltid | I 1 tilstand |
| MFFmitochondrial fission factor | Alltid | I 2 tilstander |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Alltid | I 2 tilstander |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alltid | I 1 tilstand |
| MOCS3molybdenum cofactor synthesis 3 | Alltid | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Alltid | I 2 tilstander |
| NDC1NDC1 transmembrane nucleoporin | Alltid | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Alltid | I 2 tilstander |
| NEK1NIMA related kinase 1 | Alltid | I 2 tilstander |
| NKX6-2NK6 homeobox 2 | Alltid | I 2 tilstander |
| NOP56NOP56 ribonucleoprotein | Alltid | I 2 tilstander |
| NT5C25'-nucleotidase, cytosolic II | Alltid | I 2 tilstander |
| PCLOpiccolo presynaptic cytomatrix protein | Alltid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Alltid | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alltid | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Alltid | I 2 tilstander |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alltid | I 2 tilstander |
| PI4KAphosphatidylinositol 4-kinase alpha | Alltid | I 2 tilstander |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Alltid | I 2 tilstander |
| PSAPprosaposin | Alltid | I 3 tilstander |
| RNF220ring finger protein 220 | Alltid | I 1 tilstand |
| RTN2reticulon 2 | Alltid | I 3 tilstander |
| SAMD9Lsterile alpha motif domain containing 9 like | Alltid | I 2 tilstander |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alltid | I 1 tilstand |
| SEC31ASEC31 homolog A, COPII component | Alltid | I 1 tilstand |
| SELENOIselenoprotein I | Alltid | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Alltid | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Alltid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Alltid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Alltid | I 3 tilstander |
| SPARTspartin | Alltid | I 2 tilstander |
| SPG21SPG21 abhydrolase domain containing, maspardin | Alltid | I 2 tilstander |
| SPTBN2spectrin beta, non-erythrocytic 2 | Alltid | I 3 tilstander |
| TCTN2tectonic family member 2 | Alltid | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Alltid | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Alltid | I 1 tilstand |
| TMEM63Ctransmembrane protein 63C | Alltid | I 1 tilstand |
| TMX2thioredoxin related transmembrane protein 2 | Alltid | I 1 tilstand |
| TNRtenascin R | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Alltid | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Alltid | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Alltid | I 2 tilstander |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alltid | I 1 tilstand |
| VPS37AVPS37A subunit of ESCRT-I | Alltid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| ZIC2Zic family zinc finger 2 | Alltid | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Svært ofte (80–99 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP8A2ATPase phospholipid transporting 8A2 | Svært ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Svært ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Svært ofte (80–99 %) | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Svært ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CLTRNcollectrin, amino acid transport regulator | Svært ofte (80–99 %) | I 1 tilstand |
| CTNNA2catenin alpha 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Svært ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 2 tilstander |
| ERLIN2ER lipid raft associated 2 | Svært ofte (80–99 %) | I 3 tilstander |
| FA2Hfatty acid 2-hydroxylase | Svært ofte (80–99 %) | I 2 tilstander |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Svært ofte (80–99 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Svært ofte (80–99 %) | I 2 tilstander |
| GPT2glutamic--pyruvic transaminase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| GRM1glutamate metabotropic receptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GTF2Igeneral transcription factor IIi | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| HTThuntingtin | Svært ofte (80–99 %) | I 4 tilstander |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Svært ofte (80–99 %) | I 3 tilstander |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Svært ofte (80–99 %) | I 2 tilstander |
| KIF1Ckinesin family member 1C | Svært ofte (80–99 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Svært ofte (80–99 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Svært ofte (80–99 %) | I 2 tilstander |
| LIMK1LIM domain kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Svært ofte (80–99 %) | I 2 tilstander |
| METTL27methyltransferase like 27 | Svært ofte (80–99 %) | I 1 tilstand |
| MTPAPmitochondrial poly(A) polymerase | Svært ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| OCLNoccludin | Svært ofte (80–99 %) | I 2 tilstander |
| PDYNprodynorphin | Svært ofte (80–99 %) | I 2 tilstander |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 3 tilstander |
| PRUNE1prune exopolyphosphatase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC25A15solute carrier family 25 member 15 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC2A3solute carrier family 2 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC6A19solute carrier family 6 member 19 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC6A5solute carrier family 6 member 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Svært ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Svært ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TGM6transglutaminase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| TMEM270transmembrane protein 270 | Svært ofte (80–99 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Svært ofte (80–99 %) | I 2 tilstander |
| TUBB2Btubulin beta 2B class IIb | Svært ofte (80–99 %) | I 1 tilstand |
| UBAP1ubiquitin associated protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| VLDLRvery low density lipoprotein receptor | Svært ofte (80–99 %) | I 2 tilstander |
| VPS37DVPS37D subunit of ESCRT-I | Svært ofte (80–99 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Svært ofte (80–99 %) | I 2 tilstander |
| WDR81WD repeat domain 81 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Svært ofte (80–99 %) | I 2 tilstander |
| ABCD1ATP binding cassette subfamily D member 1 | Ofte (30–79 %) | I 1 tilstand |
| ACSL4acyl-CoA synthetase long chain family member 4 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Ofte (30–79 %) | I 2 tilstander |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofte (30–79 %) | I 2 tilstander |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ofte (30–79 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ANO10anoctamin 10 | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 3 tilstander |
| ASPAaspartoacylase | Ofte (30–79 %) | I 2 tilstander |
| ASPMassembly factor for spindle microtubules | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN3ataxin 3 | Ofte (30–79 %) | I 3 tilstander |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| BCKDKbranched chain keto acid dehydrogenase kinase | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 3 tilstander |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 2 tilstander |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstander |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Ofte (30–79 %) | I 2 tilstander |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| CENPEcentromere protein E | Ofte (30–79 %) | I 1 tilstand |
| CEP135centrosomal protein 135 | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ofte (30–79 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 3 tilstander |
| CITcitron rho-interacting serine/threonine kinase | Ofte (30–79 %) | I 2 tilstander |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstander |
| COPB2coat protein complex I subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Ofte (30–79 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Ofte (30–79 %) | I 1 tilstand |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ofte (30–79 %) | I 2 tilstander |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 2 tilstander |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 3 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstander |
| FAM177A1family with sequence similarity 177 member A1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Ofte (30–79 %) | I 2 tilstander |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 2 tilstander |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 1 tilstand |
| GNAQG protein subunit alpha q | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 2 tilstander |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 2 tilstander |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Ofte (30–79 %) | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ofte (30–79 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 2 tilstander |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ofte (30–79 %) | I 2 tilstander |
| KCND3potassium voltage-gated channel subfamily D member 3 | Ofte (30–79 %) | I 2 tilstander |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Ofte (30–79 %) | I 2 tilstander |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Ofte (30–79 %) | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 1 tilstand |
| MATR3matrin 3 | Ofte (30–79 %) | I 3 tilstander |
| MCM7minichromosome maintenance complex component 7 | Ofte (30–79 %) | I 1 tilstand |
| MCPH1microcephalin 1 | Ofte (30–79 %) | I 1 tilstand |
| METTL5methyltransferase 5, N6-adenosine | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 3 tilstander |
| NARS1asparaginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| NCAPD3non-SMC condensin II complex subunit D3 | Ofte (30–79 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 2 tilstander |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Ofte (30–79 %) | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| NUP214nucleoporin 214 | Ofte (30–79 %) | I 1 tilstand |
| NUP37nucleoporin 37 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 1 tilstand |
| OPTNoptineurin | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 3 tilstander |
| PDCD6IPprogrammed cell death 6 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Ofte (30–79 %) | I 1 tilstand |
| PHC1polyhomeotic homolog 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 2 tilstander |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ofte (30–79 %) | I 2 tilstander |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 4 tilstander |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 2 tilstander |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstander |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 3 tilstander |
| POU3F4POU class 3 homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Ofte (30–79 %) | I 2 tilstander |
| PRDM13PR/SET domain 13 | Ofte (30–79 %) | I 1 tilstand |
| PRDM8PR/SET domain 8 | Ofte (30–79 %) | I 2 tilstander |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ofte (30–79 %) | I 2 tilstander |
| PRPHperipherin | Ofte (30–79 %) | I 2 tilstander |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 3 tilstander |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| RNF2ring finger protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SARS1seryl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SASS6SAS-6 centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 2 tilstander |
| SEMA6Bsemaphorin 6B | Ofte (30–79 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC19A3solute carrier family 19 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 5 tilstander |
| SLC32A1solute carrier family 32 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstander |
| SLC4A10solute carrier family 4 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 2 tilstander |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 4 tilstander |
| SRPX2sushi repeat containing protein X-linked 2 | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 3 tilstander |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Ofte (30–79 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Ofte (30–79 %) | I 2 tilstander |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 3 tilstander |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstander |
| TPP1tripeptidyl peptidase 1 | Ofte (30–79 %) | I 2 tilstander |
| TRAPPC10trafficking protein particle complex subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Ofte (30–79 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 2 tilstander |
| TRIM8tripartite motif containing 8 | Ofte (30–79 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| TTRtransthyretin | Ofte (30–79 %) | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Ofte (30–79 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 2 tilstander |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofte (30–79 %) | I 2 tilstander |
| WARS1tryptophanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Ofte (30–79 %) | I 2 tilstander |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| ZFRzinc finger RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Noen ganger (5–29 %) | I 2 tilstander |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN10ataxin 10 | Noen ganger (5–29 %) | I 2 tilstander |
| AUTS2activator of transcription and developmental regulator AUTS2 | Noen ganger (5–29 %) | I 1 tilstand |
| BEAN1brain expressed associated with NEDD4 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Noen ganger (5–29 %) | I 2 tilstander |
| CCR1C-C motif chemokine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CD40LGCD40 ligand | Noen ganger (5–29 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Noen ganger (5–29 %) | I 2 tilstander |
| CSF1Rcolony stimulating factor 1 receptor | Noen ganger (5–29 %) | I 2 tilstander |
| CTSFcathepsin F | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DYMdymeclin | Noen ganger (5–29 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Noen ganger (5–29 %) | I 2 tilstander |
| EXOSC8exosome component 8 | Noen ganger (5–29 %) | I 2 tilstander |
| EXOSC9exosome component 9 | Noen ganger (5–29 %) | I 2 tilstander |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Noen ganger (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GBA1glucosylceramidase beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GCLCglutamate-cysteine ligase catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Noen ganger (5–29 %) | I 2 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRNgranulin precursor | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| HTRA2HtrA serine peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Noen ganger (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Noen ganger (5–29 %) | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Noen ganger (5–29 %) | I 2 tilstander |
| JPH3junctophilin 3 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Noen ganger (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Noen ganger (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Noen ganger (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 1 tilstand |
| MFN2mitofusin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Noen ganger (5–29 %) | I 2 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Noen ganger (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PODXLpodocalyxin like | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Noen ganger (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Noen ganger (5–29 %) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSEN1presenilin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 2 tilstander |
| PUS3pseudouridine synthase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| REEP1receptor accessory protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC29A3solute carrier family 29 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC46A1solute carrier family 46 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TICAM1TIR domain containing adaptor molecule 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Noen ganger (5–29 %) | I 2 tilstander |
| TLR3toll like receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Noen ganger (5–29 %) | I 2 tilstander |
| TRAF3TNF receptor associated factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Noen ganger (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UNC93B1unc-93B1 regulator of TLR signaling | Noen ganger (5–29 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Noen ganger (5–29 %) | I 3 tilstander |
| WLSWnt ligand secretion mediator | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjelden (1–4%) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ikke registrert | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registrert | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ikke registrert | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registrert | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registrert | I 1 tilstand |
| ARSAarylsulfatase A | Ikke registrert | I 1 tilstand |
| ATL1atlastin GTPase 1 | Ikke registrert | I 2 tilstander |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Ikke registrert | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| ATXN1ataxin 1 | Ikke registrert | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registrert | I 2 tilstander |
| CAV1caveolin 1 | Ikke registrert | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registrert | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registrert | I 1 tilstand |
| COQ9coenzyme Q9 | Ikke registrert | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ikke registrert | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registrert | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ikke registrert | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ikke registrert | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registrert | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Ikke registrert | I 1 tilstand |
| FTLferritin light chain | Ikke registrert | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Ikke registrert | I 1 tilstand |
| GANgigaxonin | Ikke registrert | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registrert | I 1 tilstand |
| GLYCTKglycerate kinase | Ikke registrert | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ikke registrert | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ikke registrert | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Ikke registrert | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ikke registrert | I 1 tilstand |
| KIF1Akinesin family member 1A | Ikke registrert | I 2 tilstander |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MAT1Amethionine adenosyltransferase 1A | Ikke registrert | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Ikke registrert | I 1 tilstand |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Ikke registrert | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registrert | I 2 tilstander |
| MRPS34mitochondrial ribosomal protein S34 | Ikke registrert | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ikke registrert | I 2 tilstander |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ikke registrert | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registrert | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registrert | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ikke registrert | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registrert | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registrert | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Ikke registrert | I 1 tilstand |
| NEU1neuraminidase 1 | Ikke registrert | I 1 tilstand |
| NFASCneurofascin | Ikke registrert | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Ikke registrert | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Ikke registrert | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registrert | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Ikke registrert | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ikke registrert | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ikke registrert | I 1 tilstand |
| PAHphenylalanine hydroxylase | Ikke registrert | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| PCDH12protocadherin 12 | Ikke registrert | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Ikke registrert | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registrert | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Ikke registrert | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registrert | I 1 tilstand |
| PRKCGprotein kinase C gamma | Ikke registrert | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ikke registrert | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ikke registrert | I 1 tilstand |
| SACSsacsin molecular chaperone | Ikke registrert | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registrert | I 1 tilstand |
| SETXsenataxin | Ikke registrert | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Ikke registrert | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ikke registrert | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Ikke registrert | I 1 tilstand |
| SPASTspastin | Ikke registrert | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ikke registrert | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Ikke registrert | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ikke registrert | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Ikke registrert | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registrert | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ikke registrert | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Ikke registrert | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker