Egenskap
Ataxia
Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Sammendrag
- Også kalt
- Cerebellar ataxia
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Ataxia 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 |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Alltid | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Alltid | I 2 tilstander |
| ACO2aconitase 2 | Alltid | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Alltid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 3 tilstander |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Alltid | I 2 tilstander |
| AHI1Abelson helper integration site 1 | Alltid | I 3 tilstander |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alltid | I 2 tilstander |
| APTXaprataxin | Alltid | I 3 tilstander |
| ARL13BARF like GTPase 13B | Alltid | I 2 tilstander |
| ARL3ARF like GTPase 3 | Alltid | I 2 tilstander |
| ARV1ARV1 fatty acid homeostasis modulator | Alltid | I 1 tilstand |
| ATCAYATCAY kinesin light chain interacting caytaxin | Alltid | I 1 tilstand |
| ATG5autophagy related 5 | Alltid | I 1 tilstand |
| ATG7autophagy related 7 | Alltid | I 1 tilstand |
| ATMATM serine/threonine kinase | Alltid | I 2 tilstander |
| ATP13A2ATPase cation transporting 13A2 | Alltid | I 3 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Alltid | I 5 tilstander |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Alltid | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Alltid | I 1 tilstand |
| ATXN2ataxin 2 | Alltid | I 1 tilstand |
| ATXN3ataxin 3 | Alltid | I 1 tilstand |
| ATXN7ataxin 7 | Alltid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Alltid | I 1 tilstand |
| B9D1B9 domain containing 1 | Alltid | I 2 tilstander |
| CA8carbonic anhydrase 8 (inactive) | Alltid | I 2 tilstander |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Alltid | I 2 tilstander |
| CAPRIN1cell cycle associated protein 1 | Alltid | I 1 tilstand |
| CBScystathionine beta-synthase | Alltid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tilstand |
| CEP290centrosomal protein 290 | Alltid | I 4 tilstander |
| CHP1calcineurin like EF-hand protein 1 | Alltid | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Alltid | I 2 tilstander |
| COA7cytochrome c oxidase assembly factor 7 | Alltid | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Alltid | I 2 tilstander |
| COL18A1collagen type XVIII alpha 1 chain | Alltid | I 1 tilstand |
| COQ5coenzyme Q5, methyltransferase | Alltid | I 1 tilstand |
| COQ8Acoenzyme Q8A | Alltid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 2 tilstander |
| COX15cytochrome c oxidase assembly factor COX15 | Alltid | I 1 tilstand |
Vis 893 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| COX20cytochrome c oxidase assembly factor COX20 | Alltid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Alltid | I 1 tilstand |
| CRATcarnitine O-acetyltransferase | Alltid | I 1 tilstand |
| CST3cystatin C | Alltid | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Alltid | I 2 tilstander |
| CTSDcathepsin D | Alltid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Alltid | I 1 tilstand |
| DAB1DAB adaptor protein 1 | Alltid | I 1 tilstand |
| DAGLAdiacylglycerol lipase alpha | Alltid | I 1 tilstand |
| DMXL2Dmx like 2 | Alltid | I 2 tilstander |
| DNMT1DNA methyltransferase 1 | Alltid | I 3 tilstander |
| ELOVL1ELOVL fatty acid elongase 1 | Alltid | I 1 tilstand |
| ELOVL5ELOVL fatty acid elongase 5 | Alltid | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| EXOSC5exosome component 5 | Alltid | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Alltid | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Alltid | I 1 tilstand |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Alltid | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Alltid | I 3 tilstander |
| GJC2gap junction protein gamma 2 | Alltid | I 3 tilstander |
| GOSR2golgi SNAP receptor complex member 2 | Alltid | I 2 tilstander |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Alltid | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Alltid | I 2 tilstander |
| GRNgranulin precursor | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Alltid | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Alltid | I 2 tilstander |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Alltid | I 4 tilstander |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 5 tilstander |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Alltid | I 2 tilstander |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Alltid | I 3 tilstander |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Alltid | I 1 tilstand |
| MALmal, T cell differentiation protein (MAL blood group) | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Alltid | I 2 tilstander |
| MCM3APminichromosome maintenance complex component 3 associated protein | Alltid | I 1 tilstand |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Alltid | I 2 tilstander |
| MKS1MKS transition zone complex subunit 1 | Alltid | I 4 tilstander |
| MRE11MRE11 double strand break repair nuclease | Alltid | I 2 tilstander |
| MRPL12mitochondrial ribosomal protein L12 | Alltid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Alltid | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Alltid | I 4 tilstander |
| MVKmevalonate kinase | Alltid | I 3 tilstander |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Alltid | I 2 tilstander |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alltid | I 2 tilstander |
| NKX2-1NK2 homeobox 1 | Alltid | I 2 tilstander |
| NKX6-2NK6 homeobox 2 | Alltid | I 2 tilstander |
| NONOnon-POU domain containing octamer binding | Alltid | I 2 tilstander |
| NPTX1neuronal pentraxin 1 | Alltid | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Alltid | I 2 tilstander |
| NUP54nucleoporin 54 | Alltid | I 2 tilstander |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Alltid | I 2 tilstander |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 5 tilstander |
| PCNAproliferating cell nuclear antigen | Alltid | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Alltid | I 2 tilstander |
| PEX12peroxisomal biogenesis factor 12 | Alltid | I 2 tilstander |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Alltid | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Alltid | I 2 tilstander |
| PLP1proteolipid protein 1 | Alltid | I 5 tilstander |
| PNKPpolynucleotide kinase 3'-phosphatase | Alltid | I 3 tilstander |
| PNPpurine nucleoside phosphorylase | Alltid | I 2 tilstander |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alltid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Alltid | I 7 tilstander |
| POLG2DNA polymerase gamma 2, accessory subunit | Alltid | I 2 tilstander |
| POLR1CRNA polymerase I and III subunit C | Alltid | I 2 tilstander |
| POLR3BRNA polymerase III subunit B | Alltid | I 4 tilstander |
| POLR3KRNA polymerase III subunit K | Alltid | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Alltid | I 2 tilstander |
| PRF1perforin 1 | Alltid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alltid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Alltid | I 2 tilstander |
| RAB3ARAB3A, member RAS oncogene family | Alltid | I 1 tilstand |
| RAD50RAD50 double strand break repair protein | Alltid | I 1 tilstand |
| REPS1RALBP1 associated Eps domain containing 1 | Alltid | I 1 tilstand |
| RFC1replication factor C subunit 1 | Alltid | I 1 tilstand |
| RNF216ring finger protein 216 | Alltid | I 2 tilstander |
| RNF220ring finger protein 220 | Alltid | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Alltid | I 4 tilstander |
| RUBCNrubicon autophagy regulator | Alltid | I 1 tilstand |
| SACSsacsin molecular chaperone | Alltid | I 2 tilstander |
| SARS1seryl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Alltid | I 3 tilstander |
| SCO1synthesis of cytochrome C oxidase 1 | Alltid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 2 tilstander |
| SDHDsuccinate dehydrogenase complex subunit D | Alltid | I 2 tilstander |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alltid | I 1 tilstand |
| SEMA6Bsemaphorin 6B | Alltid | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Alltid | I 2 tilstander |
| SLC13A3solute carrier family 13 member 3 | Alltid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 2 tilstander |
| SLC4A10solute carrier family 4 member 10 | Alltid | I 1 tilstand |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Alltid | I 1 tilstand |
| SLC9A1solute carrier family 9 member A1 | Alltid | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Alltid | I 1 tilstand |
| SNAP25synaptosome associated protein 25 | Alltid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Alltid | I 1 tilstand |
| SPTBN2spectrin beta, non-erythrocytic 2 | Alltid | I 1 tilstand |
| SQSTM1sequestosome 1 | Alltid | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Alltid | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Alltid | I 3 tilstander |
| SURF1SURF1 cytochrome c oxidase assembly factor | Alltid | I 2 tilstander |
| SYT14synaptotagmin 14 | Alltid | I 2 tilstander |
| TACO1translational activator of cytochrome c oxidase I | Alltid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Alltid | I 2 tilstander |
| TCTN2tectonic family member 2 | Alltid | I 2 tilstander |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Alltid | I 2 tilstander |
| TEFMtranscription elongation factor, mitochondrial | Alltid | I 1 tilstand |
| TGM6transglutaminase 6 | Alltid | I 1 tilstand |
| THAP11THAP domain containing 11 | Alltid | I 1 tilstand |
| TMEM240transmembrane protein 240 | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Alltid | I 2 tilstander |
| TPP1tripeptidyl peptidase 1 | Alltid | I 2 tilstander |
| TTPAalpha tocopherol transfer protein | Alltid | I 2 tilstander |
| UBE3Aubiquitin protein ligase E3A | Alltid | I 5 tilstander |
| UCHL1ubiquitin C-terminal hydrolase L1 | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alltid | I 1 tilstand |
| UROC1urocanate hydratase 1 | Alltid | I 2 tilstander |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Alltid | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Alltid | I 2 tilstander |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 3 tilstander |
| WWOXWW domain containing oxidoreductase | Alltid | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Alltid | I 1 tilstand |
| ZBTB11zinc finger and BTB domain containing 11 | Alltid | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Svært ofte (80–99 %) | I 1 tilstand |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Svært ofte (80–99 %) | I 2 tilstander |
| ARMC9armadillo repeat containing 9 | Svært ofte (80–99 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ATP8A2ATPase phospholipid transporting 8A2 | Svært ofte (80–99 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | 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 |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Svært ofte (80–99 %) | I 7 tilstander |
| CBY1chibby 1, beta catenin antagonist | Svært ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Svært ofte (80–99 %) | I 2 tilstander |
| CEP104centrosomal protein 104 | Svært ofte (80–99 %) | I 2 tilstander |
| CEP120centrosomal protein 120 | Svært ofte (80–99 %) | I 2 tilstander |
| CEP41centrosomal protein 41 | Svært ofte (80–99 %) | I 3 tilstander |
| 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 |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Svært ofte (80–99 %) | I 3 tilstander |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CSPP1centrosome and spindle pole associated protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Svært ofte (80–99 %) | I 2 tilstander |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Svært ofte (80–99 %) | I 2 tilstander |
| EIF4Heukaryotic translation initiation factor 4H | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 3 tilstander |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 3 tilstander |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 4 tilstander |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 3 tilstander |
| FDXRferredoxin reductase | Svært ofte (80–99 %) | I 2 tilstander |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Svært ofte (80–99 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Svært ofte (80–99 %) | I 2 tilstander |
| FMR1fragile X messenger ribonucleoprotein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Svært ofte (80–99 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GLRBglycine receptor beta | Svært ofte (80–99 %) | I 1 tilstand |
| GPHNgephyrin | Svært ofte (80–99 %) | I 1 tilstand |
| 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 |
| HEXBhexosaminidase subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Svært ofte (80–99 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Svært ofte (80–99 %) | I 2 tilstander |
| KATNIPkatanin interacting protein | Svært ofte (80–99 %) | I 1 tilstand |
| KCND3potassium voltage-gated channel subfamily D member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Svært ofte (80–99 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Svært ofte (80–99 %) | I 2 tilstander |
| LAMA1laminin subunit alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| LIMK1LIM domain kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LMNB1lamin B1 | Svært ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Svært ofte (80–99 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Svært ofte (80–99 %) | I 5 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Svært ofte (80–99 %) | I 4 tilstander |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Svært ofte (80–99 %) | I 5 tilstander |
| MT-RNR1mitochondrially encoded 12S rRNA | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Svært ofte (80–99 %) | I 3 tilstander |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Svært ofte (80–99 %) | I 3 tilstander |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Svært ofte (80–99 %) | I 4 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Svært ofte (80–99 %) | I 5 tilstander |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Svært ofte (80–99 %) | I 2 tilstander |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Svært ofte (80–99 %) | I 2 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Svært ofte (80–99 %) | I 3 tilstander |
| MTRFRmitochondrial translation release factor in rescue | Svært ofte (80–99 %) | I 2 tilstander |
| MYO5Amyosin VA | Svært ofte (80–99 %) | I 2 tilstander |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Svært ofte (80–99 %) | I 2 tilstander |
| NCF1neutrophil cytosolic factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Svært ofte (80–99 %) | I 3 tilstander |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Svært ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Svært ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| NOP56NOP56 ribonucleoprotein | Svært ofte (80–99 %) | I 2 tilstander |
| NOTCH2NLCnotch 2 N-terminal like C | Svært ofte (80–99 %) | I 3 tilstander |
| NPHP1nephrocystin 1 | Svært ofte (80–99 %) | I 4 tilstander |
| NSD2nuclear receptor binding SET domain protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Svært ofte (80–99 %) | I 3 tilstander |
| OGDHoxoglutarate dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| PAX6paired box 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Svært ofte (80–99 %) | I 2 tilstander |
| PEX7peroxisomal biogenesis factor 7 | Svært ofte (80–99 %) | I 3 tilstander |
| PGM3phosphoglucomutase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| PHYHphytanoyl-CoA 2-hydroxylase | Svært ofte (80–99 %) | I 2 tilstander |
| PIBF1progesterone immunomodulatory binding factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Svært ofte (80–99 %) | I 2 tilstander |
| PMM2phosphomannomutase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PMPCApeptidase, mitochondrial processing subunit alpha | Svært ofte (80–99 %) | I 2 tilstander |
| PNPLA6patatin like domain 6, lysophospholipase | Svært ofte (80–99 %) | I 8 tilstander |
| POLR3ARNA polymerase III subunit A | Svært ofte (80–99 %) | I 4 tilstander |
| PRNPprion protein (Kanno blood group) | Svært ofte (80–99 %) | I 3 tilstander |
| PTENphosphatase and tensin homolog | Svært ofte (80–99 %) | I 2 tilstander |
| RFC2replication factor C subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Svært ofte (80–99 %) | I 3 tilstander |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Svært ofte (80–99 %) | I 5 tilstander |
| SETXsenataxin | Svært ofte (80–99 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC2A1solute carrier family 2 member 1 | Svært ofte (80–99 %) | I 8 tilstander |
| SLC6A19solute carrier family 6 member 19 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC6A5solute carrier family 6 member 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Svært ofte (80–99 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Svært ofte (80–99 %) | I 2 tilstander |
| SOX10SRY-box transcription factor 10 | Svært ofte (80–99 %) | I 3 tilstander |
| STX1Asyntaxin 1A | Svært ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TBL2transducin beta like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TBPTATA-box binding protein | Svært ofte (80–99 %) | I 2 tilstander |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Svært ofte (80–99 %) | I 3 tilstander |
| TMEM218transmembrane protein 218 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Svært ofte (80–99 %) | I 2 tilstander |
| TMEM237transmembrane protein 237 | Svært ofte (80–99 %) | I 4 tilstander |
| TMEM270transmembrane protein 270 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Svært ofte (80–99 %) | I 4 tilstander |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Svært ofte (80–99 %) | I 2 tilstander |
| TWNKtwinkle mtDNA helicase | Svært ofte (80–99 %) | I 5 tilstander |
| VLDLRvery low density lipoprotein receptor | Svært ofte (80–99 %) | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Svært ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Svært ofte (80–99 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Svært ofte (80–99 %) | I 2 tilstander |
| WDR81WD repeat domain 81 | Svært ofte (80–99 %) | I 2 tilstander |
| ZNF423zinc finger protein 423 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF592zinc finger protein 592 | Svært ofte (80–99 %) | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ofte (30–79 %) | I 2 tilstander |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 2 tilstander |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofte (30–79 %) | I 2 tilstander |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 2 tilstander |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Ofte (30–79 %) | I 2 tilstander |
| ATN1atrophin 1 | Ofte (30–79 %) | I 2 tilstander |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 2 tilstander |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 2 tilstander |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ofte (30–79 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 2 tilstander |
| BTDbiotinidase | Ofte (30–79 %) | I 2 tilstander |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Ofte (30–79 %) | I 2 tilstander |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 2 tilstander |
| CAPN1calpain 1 | Ofte (30–79 %) | I 2 tilstander |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Ofte (30–79 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Ofte (30–79 %) | I 1 tilstand |
| CLN6CLN6 transmembrane ER protein | Ofte (30–79 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ofte (30–79 %) | I 2 tilstander |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 2 tilstander |
| COG4component of oligomeric golgi complex 4 | Ofte (30–79 %) | I 2 tilstander |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| COXFA4cytochrome c oxidase associated subunit FA4 | Ofte (30–79 %) | I 1 tilstand |
| CPceruloplasmin | Ofte (30–79 %) | I 2 tilstander |
| CSNK2A1casein kinase 2 alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| CSTBcystatin B | Ofte (30–79 %) | I 2 tilstander |
| CTNNA2catenin alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| CTSFcathepsin F | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 2 tilstander |
| DARS1aspartyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 2 tilstander |
| DHX30DExH-box helicase 30 | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 2 tilstander |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 2 tilstander |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 2 tilstander |
| ELP1elongator acetyltransferase complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| EPM2AEPM2A glucan phosphatase, laforin | Ofte (30–79 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 4 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 3 tilstander |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 2 tilstander |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 2 tilstander |
| FRMPD4FERM and PDZ domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 2 tilstander |
| GAMTguanidinoacetate N-methyltransferase | Ofte (30–79 %) | I 2 tilstander |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 2 tilstander |
| GCH1GTP cyclohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN5gem nuclear organelle associated protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstander |
| GLB1galactosidase beta 1 | Ofte (30–79 %) | I 3 tilstander |
| GPRC5BG protein-coupled receptor class C group 5 member B | Ofte (30–79 %) | I 1 tilstand |
| GSNgelsolin | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 3 tilstander |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ofte (30–79 %) | I 3 tilstander |
| HEPACAMhepatic and glial cell adhesion molecule | Ofte (30–79 %) | I 3 tilstander |
| HK1hexokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| HTThuntingtin | Ofte (30–79 %) | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Ofte (30–79 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Ofte (30–79 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Ofte (30–79 %) | I 3 tilstander |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 1 tilstand |
| LITAFlipopolysaccharide induced TNF factor | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 2 tilstander |
| MAN2B1mannosidase alpha class 2B member 1 | Ofte (30–79 %) | I 2 tilstander |
| MCOLN1mucolipin TRP cation channel 1 | Ofte (30–79 %) | I 1 tilstand |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Ofte (30–79 %) | I 2 tilstander |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 7 tilstander |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 2 tilstander |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 2 tilstander |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 3 tilstander |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 4 tilstander |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 4 tilstander |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 2 tilstander |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 2 tilstander |
| MTHFRmethylenetetrahydrofolate reductase | Ofte (30–79 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ofte (30–79 %) | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Ofte (30–79 %) | I 1 tilstand |
| NEMFnuclear export mediator factor | Ofte (30–79 %) | I 1 tilstand |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| NOL3nucleolar protein 3 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ofte (30–79 %) | I 3 tilstander |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 1 tilstand |
| PDE2Aphosphodiesterase 2A | Ofte (30–79 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ofte (30–79 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Ofte (30–79 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 2 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 2 tilstander |
| PEX26peroxisomal biogenesis factor 26 | Ofte (30–79 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 2 tilstander |
| PGBD5piggyBac transposable element derived 5 | Ofte (30–79 %) | I 1 tilstand |
| PGK1phosphoglycerate kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| PGM2L1phosphoglucomutase 2 like 1 | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| PITRM1pitrilysin metallopeptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 2 tilstander |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Ofte (30–79 %) | I 1 tilstand |
| POU3F4POU class 3 homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Ofte (30–79 %) | I 1 tilstand |
| PRICKLE1prickle planar cell polarity protein 1 | Ofte (30–79 %) | I 2 tilstander |
| PRODHproline dehydrogenase 1 | Ofte (30–79 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 5 tilstander |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| RFXAPregulatory factor X associated protein | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| RIMS2regulating synaptic membrane exocytosis 2 | Ofte (30–79 %) | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 2 tilstander |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 3 tilstander |
| RTN4IP1reticulon 4 interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 3 tilstander |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 2 tilstander |
| SKOR2SKI family transcriptional corepressor 2 | 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 |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 2 tilstander |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstander |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 2 tilstander |
| SNORD118small nucleolar RNA, C/D box 118 | Ofte (30–79 %) | I 2 tilstander |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 3 tilstander |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ofte (30–79 %) | I 2 tilstander |
| SRD5A3steroid 5 alpha-reductase 3 | Ofte (30–79 %) | I 1 tilstand |
| SRPK3SRSF protein kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| STN1STN1 subunit of CST complex | Ofte (30–79 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 3 tilstander |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 2 tilstander |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 1 tilstand |
| TCF20transcription factor 20 | Ofte (30–79 %) | I 1 tilstand |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Ofte (30–79 %) | I 2 tilstander |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Ofte (30–79 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Ofte (30–79 %) | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ofte (30–79 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TTRtransthyretin | Ofte (30–79 %) | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Ofte (30–79 %) | I 1 tilstand |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ofte (30–79 %) | I 1 tilstand |
| UBE3Cubiquitin protein ligase E3C | Ofte (30–79 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Ofte (30–79 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 2 tilstander |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ZNF142zinc finger protein 142 | Ofte (30–79 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Noen ganger (5–29 %) | I 2 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCA5ATP binding cassette subfamily A member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Noen ganger (5–29 %) | I 2 tilstander |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Noen ganger (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Noen ganger (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Noen ganger (5–29 %) | I 2 tilstander |
| ANK1ankyrin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| APPamyloid beta precursor protein | Noen ganger (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP10AATPase phospholipid transporting 10A (putative) | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 2 tilstander |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Noen ganger (5–29 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Noen ganger (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP164centrosomal protein 164 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 2 tilstander |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DLDdihydrolipoamide dehydrogenase | Noen ganger (5–29 %) | I 2 tilstander |
| DLL1delta like canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Noen ganger (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 2 tilstander |
| DUSP6dual specificity phosphatase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Noen ganger (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Noen ganger (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXI1forkhead box I1 | Noen ganger (5–29 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 2 tilstander |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 2 tilstander |
| GALTgalactose-1-phosphate uridylyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| GCKglucokinase | Noen ganger (5–29 %) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| GGT1gamma-glutamyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | 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 |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HIC1HIC ZBTB transcriptional repressor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Noen ganger (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 2 tilstander |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLCSholocarboxylase synthetase | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Noen ganger (5–29 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | 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 |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| INSinsulin | Noen ganger (5–29 %) | I 1 tilstand |
| INVSinversin | Noen ganger (5–29 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Noen ganger (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Noen ganger (5–29 %) | I 1 tilstand |
| KIF5Akinesin family member 5A | Noen ganger (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Noen ganger (5–29 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| LGI3leucine rich repeat LGI family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| LRP12LDL receptor related protein 12 | Noen ganger (5–29 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Noen ganger (5–29 %) | I 2 tilstander |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 2 tilstander |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 2 tilstander |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Noen ganger (5–29 %) | I 2 tilstander |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Noen ganger (5–29 %) | I 2 tilstander |
| MTO1mitochondrial tRNA translation optimization 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Noen ganger (5–29 %) | I 2 tilstander |
| MYD88MYD88 innate immune signal transduction adaptor | Noen ganger (5–29 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Noen ganger (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 2 tilstander |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Noen ganger (5–29 %) | I 2 tilstander |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Noen ganger (5–29 %) | I 2 tilstander |
| NIPA1NIPA magnesium transporter 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Noen ganger (5–29 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Noen ganger (5–29 %) | I 2 tilstander |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PDX1pancreatic and duodenal homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM8PR/SET domain 8 | Noen ganger (5–29 %) | I 2 tilstander |
| PROK2prokineticin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| PSEN1presenilin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSEN2presenilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 2 tilstander |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RFC4replication factor C subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Noen ganger (5–29 %) | I 2 tilstander |
| RNASET2ribonuclease T2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF168ring finger protein 168 | Noen ganger (5–29 %) | I 2 tilstander |
| RNU5B-1RNA, U5B small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 2 tilstander |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC19A2solute carrier family 19 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC26A4solute carrier family 26 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Noen ganger (5–29 %) | I 3 tilstander |
| SLC6A11solute carrier family 6 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Noen ganger (5–29 %) | I 1 tilstand |
| SNAI2snail family transcriptional repressor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| SORL1sortilin related receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Noen ganger (5–29 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Bsyntaxin 1B | Noen ganger (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TATtyrosine aminotransferase | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 2 tilstander |
| TELO2telomere maintenance 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TERCtelomerase RNA component | Noen ganger (5–29 %) | I 2 tilstander |
| TERTtelomerase reverse transcriptase | Noen ganger (5–29 %) | I 3 tilstander |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Noen ganger (5–29 %) | I 5 tilstander |
| TK2thymidine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TOMM40translocase of outer mitochondrial membrane 40 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Noen ganger (5–29 %) | I 2 tilstander |
| TREM2triggering receptor expressed on myeloid cells 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Noen ganger (5–29 %) | I 2 tilstander |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Noen ganger (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 2 tilstander |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 2 tilstander |
| ALKALK receptor tyrosine kinase | Sjelden (1–4%) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Sjelden (1–4%) | I 1 tilstand |
| BMP15bone morphogenetic protein 15 | Sjelden (1–4%) | I 1 tilstand |
| BNC1basonuclin zinc finger protein 1 | Sjelden (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| EXOSC3exosome component 3 | Sjelden (1–4%) | I 1 tilstand |
| EXOSC8exosome component 8 | Sjelden (1–4%) | I 1 tilstand |
| EXOSC9exosome component 9 | Sjelden (1–4%) | I 1 tilstand |
| FIGLAfolliculogenesis specific bHLH transcription factor | Sjelden (1–4%) | I 1 tilstand |
| FSHRfollicle stimulating hormone receptor | Sjelden (1–4%) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sjelden (1–4%) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Sjelden (1–4%) | I 1 tilstand |
| LMO1LIM domain only 1 | Sjelden (1–4%) | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Sjelden (1–4%) | I 1 tilstand |
| MSH4mutS homolog 4 | Sjelden (1–4%) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sjelden (1–4%) | I 1 tilstand |
| NAGSN-acetylglutamate synthase | Sjelden (1–4%) | I 1 tilstand |
| NEFLneurofilament light chain | Sjelden (1–4%) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Sjelden (1–4%) | I 1 tilstand |
| NUP107nucleoporin 107 | Sjelden (1–4%) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Sjelden (1–4%) | I 1 tilstand |
| POLR3HRNA polymerase III subunit H | Sjelden (1–4%) | I 1 tilstand |
| PSMC3IPPSMC3 interacting protein | Sjelden (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| SPASTspastin | Sjelden (1–4%) | I 1 tilstand |
| SPIDRscaffold protein involved in DNA repair | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| STARD7StAR related lipid transfer domain containing 7 | Sjelden (1–4%) | I 1 tilstand |
| ZSWIM7zinc finger SWIM-type containing 7 | Sjelden (1–4%) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ikke registrert | I 1 tilstand |
| APOBapolipoprotein B | Ikke registrert | I 1 tilstand |
| ARSAarylsulfatase A | Ikke registrert | I 1 tilstand |
| ASS1argininosuccinate synthase 1 | Ikke registrert | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ikke registrert | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ikke registrert | I 1 tilstand |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| BEAN1brain expressed associated with NEDD4 1 | Ikke registrert | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registrert | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Ikke registrert | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registrert | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Ikke registrert | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registrert | I 2 tilstander |
| CPS1carbamoyl-phosphate synthase 1 | Ikke registrert | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Ikke registrert | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registrert | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| DCXdoublecortin | Ikke registrert | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registrert | I 1 tilstand |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Ikke registrert | I 1 tilstand |
| EDNRBendothelin receptor type B | Ikke registrert | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ikke registrert | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Ikke registrert | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ikke registrert | I 1 tilstand |
| FTLferritin light chain | Ikke registrert | I 1 tilstand |
| FXNfrataxin | Ikke registrert | I 2 tilstander |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ikke registrert | I 1 tilstand |
| GPIglucose-6-phosphate isomerase | Ikke registrert | I 1 tilstand |
| GSSglutathione synthetase | Ikke registrert | I 1 tilstand |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Ikke registrert | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registrert | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ikke registrert | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ikke registrert | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Ikke registrert | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registrert | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registrert | I 2 tilstander |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registrert | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ikke registrert | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ikke registrert | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ikke registrert | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registrert | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registrert | I 1 tilstand |
| NFASCneurofascin | Ikke registrert | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registrert | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registrert | I 1 tilstand |
| NUP214nucleoporin 214 | Ikke registrert | I 1 tilstand |
| OTCornithine transcarbamylase | Ikke registrert | I 1 tilstand |
| OXR1oxidation resistance 1 | Ikke registrert | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ikke registrert | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registrert | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| RNASEH1ribonuclease H1 | Ikke registrert | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Ikke registrert | I 1 tilstand |
| RPIAribose 5-phosphate isomerase A | Ikke registrert | I 1 tilstand |
| SLC12A3solute carrier family 12 member 3 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registrert | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registrert | I 1 tilstand |
| SLC39A4solute carrier family 39 member 4 | Ikke registrert | I 1 tilstand |
| SLC46A1solute carrier family 46 member 1 | Ikke registrert | I 1 tilstand |
| SLC52A2solute carrier family 52 member 2 | Ikke registrert | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registrert | I 1 tilstand |
| SUOXsulfite oxidase | Ikke registrert | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registrert | I 1 tilstand |
| TCN2transcobalamin 2 | Ikke registrert | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registrert | I 2 tilstander |
| TMEM70transmembrane protein 70 | Ikke registrert | I 1 tilstand |
| TNPO2transportin 2 | Ikke registrert | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Ikke registrert | I 1 tilstand |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Ikke registrert | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | 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
- Inability to coordinate movements when walking271 gener
- Lack of coordination of movement179 gener
- Limb ataxia92 gener
- Instability or lack of coordination of central trunk muscles87 gener
- Difficulty performing quick and alternating movements68 gener
- Progressive cerebellar ataxia65 gener
- Episodic ataxia36 gener
- Spastic ataxia21 gener
- Nonprogressive cerebellar ataxia10 gener
- Cerebellar ataxia associated with quadrupedal gait4 gener
- Optic ataxia2 gener
- Dyssynergia1 gen
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