AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Træk
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).
Resumé
- Også kaldet
- Cerebellar ataxia
- Kropssystem
- Abnormality of the nervous system
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/ataxia.json"
page <- fromJSON(url)
page$trait$nameAtaxiaHP:0001251
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Ataxia, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test933 gener knyttet til Ataxia
Ændringer i disse gener forårsager sjældne tilstande, hvor Ataxia ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Altid | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 2 tilstande |
| ACO2aconitase 2 | Altid | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Altid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 3 tilstande |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Altid | I 2 tilstande |
| AHI1Abelson helper integration site 1 | Altid | I 3 tilstande |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 2 tilstande |
| APTXaprataxin | Altid | I 3 tilstande |
| ARL13BARF like GTPase 13B | Altid | I 2 tilstande |
| ARL3ARF like GTPase 3 | Altid | I 2 tilstande |
| ARV1ARV1 fatty acid homeostasis modulator | Altid | I 1 tilstand |
| ATCAYATCAY kinesin light chain interacting caytaxin | Altid | I 1 tilstand |
| ATG5autophagy related 5 | Altid | I 1 tilstand |
| ATG7autophagy related 7 | Altid | I 1 tilstand |
| ATMATM serine/threonine kinase | Altid | I 2 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Altid | I 3 tilstande |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Altid | I 5 tilstande |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Altid | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Altid | I 1 tilstand |
| ATXN2ataxin 2 | Altid | I 1 tilstand |
| ATXN3ataxin 3 | Altid | I 1 tilstand |
| ATXN7ataxin 7 | Altid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Altid | I 1 tilstand |
| B9D1B9 domain containing 1 | Altid | I 2 tilstande |
| CA8carbonic anhydrase 8 (inactive) | Altid | I 2 tilstande |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Altid | I 2 tilstande |
| CAPRIN1cell cycle associated protein 1 | Altid | I 1 tilstand |
| CBScystathionine beta-synthase | Altid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| CEP290centrosomal protein 290 | Altid | I 4 tilstande |
| CHP1calcineurin like EF-hand protein 1 | Altid | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Altid | I 2 tilstande |
| COA7cytochrome c oxidase assembly factor 7 | Altid | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Altid | I 2 tilstande |
| COL18A1collagen type XVIII alpha 1 chain | Altid | I 1 tilstand |
| COQ5coenzyme Q5, methyltransferase | Altid | I 1 tilstand |
| COQ8Acoenzyme Q8A | Altid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altid | I 2 tilstande |
| COX15cytochrome c oxidase assembly factor COX15 | Altid | I 1 tilstand |
Vis 893 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| COX20cytochrome c oxidase assembly factor COX20 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| CRATcarnitine O-acetyltransferase | Altid | I 1 tilstand |
| CST3cystatin C | Altid | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Altid | I 2 tilstande |
| CTSDcathepsin D | Altid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Altid | I 1 tilstand |
| DAB1DAB adaptor protein 1 | Altid | I 1 tilstand |
| DAGLAdiacylglycerol lipase alpha | Altid | I 1 tilstand |
| DMXL2Dmx like 2 | Altid | I 2 tilstande |
| DNMT1DNA methyltransferase 1 | Altid | I 3 tilstande |
| ELOVL1ELOVL fatty acid elongase 1 | Altid | I 1 tilstand |
| ELOVL5ELOVL fatty acid elongase 5 | Altid | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| EXOSC5exosome component 5 | Altid | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altid | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Altid | I 1 tilstand |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Altid | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Altid | I 3 tilstande |
| GJC2gap junction protein gamma 2 | Altid | I 3 tilstande |
| GOSR2golgi SNAP receptor complex member 2 | Altid | I 2 tilstande |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Altid | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Altid | I 2 tilstande |
| GRNgranulin precursor | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Altid | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Altid | I 2 tilstande |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Altid | I 4 tilstande |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 5 tilstande |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Altid | I 2 tilstande |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Altid | I 3 tilstande |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Altid | I 1 tilstand |
| MALmal, T cell differentiation protein (MAL blood group) | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Altid | I 2 tilstande |
| MCM3APminichromosome maintenance complex component 3 associated protein | Altid | I 1 tilstand |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Altid | I 2 tilstande |
| MKS1MKS transition zone complex subunit 1 | Altid | I 4 tilstande |
| MRE11MRE11 double strand break repair nuclease | Altid | I 2 tilstande |
| MRPL12mitochondrial ribosomal protein L12 | Altid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altid | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altid | I 4 tilstande |
| MVKmevalonate kinase | Altid | I 3 tilstande |
| NADK2NAD kinase 2, mitochondrial | Altid | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Altid | I 2 tilstande |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altid | I 2 tilstande |
| NKX2-1NK2 homeobox 1 | Altid | I 2 tilstande |
| NKX6-2NK6 homeobox 2 | Altid | I 2 tilstande |
| NONOnon-POU domain containing octamer binding | Altid | I 2 tilstande |
| NPTX1neuronal pentraxin 1 | Altid | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Altid | I 2 tilstande |
| NUP54nucleoporin 54 | Altid | I 2 tilstande |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altid | I 5 tilstande |
| PCNAproliferating cell nuclear antigen | Altid | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Altid | I 2 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Altid | I 2 tilstande |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Altid | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Altid | I 2 tilstande |
| PLP1proteolipid protein 1 | Altid | I 5 tilstande |
| PNKPpolynucleotide kinase 3'-phosphatase | Altid | I 3 tilstande |
| PNPpurine nucleoside phosphorylase | Altid | I 2 tilstande |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Altid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 7 tilstande |
| POLG2DNA polymerase gamma 2, accessory subunit | Altid | I 2 tilstande |
| POLR1CRNA polymerase I and III subunit C | Altid | I 2 tilstande |
| POLR3BRNA polymerase III subunit B | Altid | I 4 tilstande |
| POLR3KRNA polymerase III subunit K | Altid | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Altid | I 2 tilstande |
| PRF1perforin 1 | Altid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Altid | I 2 tilstande |
| RAB3ARAB3A, member RAS oncogene family | Altid | I 1 tilstand |
| RAD50RAD50 double strand break repair protein | Altid | I 1 tilstand |
| REPS1RALBP1 associated Eps domain containing 1 | Altid | I 1 tilstand |
| RFC1replication factor C subunit 1 | Altid | I 1 tilstand |
| RNF216ring finger protein 216 | Altid | I 2 tilstande |
| RNF220ring finger protein 220 | Altid | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Altid | I 4 tilstande |
| RUBCNrubicon autophagy regulator | Altid | I 1 tilstand |
| SACSsacsin molecular chaperone | Altid | I 2 tilstande |
| SARS1seryl-tRNA synthetase 1 | Altid | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Altid | I 3 tilstande |
| SCO1synthesis of cytochrome C oxidase 1 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 2 tilstande |
| SDHDsuccinate dehydrogenase complex subunit D | Altid | I 2 tilstande |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altid | I 1 tilstand |
| SEMA6Bsemaphorin 6B | Altid | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Altid | I 2 tilstande |
| SLC13A3solute carrier family 13 member 3 | Altid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Altid | I 2 tilstande |
| SLC4A10solute carrier family 4 member 10 | Altid | I 1 tilstand |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Altid | I 1 tilstand |
| SLC9A1solute carrier family 9 member A1 | Altid | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Altid | I 1 tilstand |
| SNAP25synaptosome associated protein 25 | Altid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Altid | I 1 tilstand |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altid | I 1 tilstand |
| SQSTM1sequestosome 1 | Altid | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Altid | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Altid | I 3 tilstande |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altid | I 2 tilstande |
| SYT14synaptotagmin 14 | Altid | I 2 tilstande |
| TACO1translational activator of cytochrome c oxidase I | Altid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Altid | I 2 tilstande |
| TCTN2tectonic family member 2 | Altid | I 2 tilstande |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Altid | I 2 tilstande |
| TEFMtranscription elongation factor, mitochondrial | Altid | I 1 tilstand |
| TGM6transglutaminase 6 | Altid | I 1 tilstand |
| THAP11THAP domain containing 11 | Altid | I 1 tilstand |
| TMEM240transmembrane protein 240 | Altid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Altid | I 2 tilstande |
| TPP1tripeptidyl peptidase 1 | Altid | I 2 tilstande |
| TTPAalpha tocopherol transfer protein | Altid | I 2 tilstande |
| UBE3Aubiquitin protein ligase E3A | Altid | I 5 tilstande |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Altid | I 1 tilstand |
| UROC1urocanate hydratase 1 | Altid | I 2 tilstande |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Altid | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Altid | I 2 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 3 tilstande |
| WWOXWW domain containing oxidoreductase | Altid | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Altid | I 1 tilstand |
| ZBTB11zinc finger and BTB domain containing 11 | Altid | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Meget ofte (80–99 %) | I 1 tilstand |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Meget ofte (80–99 %) | I 2 tilstande |
| ARMC9armadillo repeat containing 9 | Meget ofte (80–99 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ATP8A2ATPase phospholipid transporting 8A2 | Meget ofte (80–99 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Meget ofte (80–99 %) | I 7 tilstande |
| CBY1chibby 1, beta catenin antagonist | Meget ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Meget ofte (80–99 %) | I 2 tilstande |
| CEP104centrosomal protein 104 | Meget ofte (80–99 %) | I 2 tilstande |
| CEP120centrosomal protein 120 | Meget ofte (80–99 %) | I 2 tilstande |
| CEP41centrosomal protein 41 | Meget ofte (80–99 %) | I 3 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CLTRNcollectrin, amino acid transport regulator | Meget ofte (80–99 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Meget ofte (80–99 %) | I 3 tilstande |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Meget ofte (80–99 %) | I 2 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 2 tilstande |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 3 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 3 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 4 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 3 tilstande |
| FDXRferredoxin reductase | Meget ofte (80–99 %) | I 2 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FMR1fragile X messenger ribonucleoprotein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Meget ofte (80–99 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GLRBglycine receptor beta | Meget ofte (80–99 %) | I 1 tilstand |
| GPHNgephyrin | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Meget ofte (80–99 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Meget ofte (80–99 %) | I 2 tilstande |
| KATNIPkatanin interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| KCND3potassium voltage-gated channel subfamily D member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Meget ofte (80–99 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Meget ofte (80–99 %) | I 2 tilstande |
| LAMA1laminin subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LMNB1lamin B1 | Meget ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Meget ofte (80–99 %) | I 5 tilstande |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Meget ofte (80–99 %) | I 4 tilstande |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Meget ofte (80–99 %) | I 2 tilstande |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Meget ofte (80–99 %) | I 5 tilstande |
| MT-RNR1mitochondrially encoded 12S rRNA | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Meget ofte (80–99 %) | I 3 tilstande |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Meget ofte (80–99 %) | I 3 tilstande |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Meget ofte (80–99 %) | I 4 tilstande |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Meget ofte (80–99 %) | I 5 tilstande |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Meget ofte (80–99 %) | I 2 tilstande |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Meget ofte (80–99 %) | I 2 tilstande |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Meget ofte (80–99 %) | I 3 tilstande |
| MTRFRmitochondrial translation release factor in rescue | Meget ofte (80–99 %) | I 2 tilstande |
| MYO5Amyosin VA | Meget ofte (80–99 %) | I 2 tilstande |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Meget ofte (80–99 %) | I 2 tilstande |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Meget ofte (80–99 %) | I 3 tilstande |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Meget ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Meget ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| NOP56NOP56 ribonucleoprotein | Meget ofte (80–99 %) | I 2 tilstande |
| NOTCH2NLCnotch 2 N-terminal like C | Meget ofte (80–99 %) | I 3 tilstande |
| NPHP1nephrocystin 1 | Meget ofte (80–99 %) | I 4 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Meget ofte (80–99 %) | I 3 tilstande |
| OGDHoxoglutarate dehydrogenase | Meget ofte (80–99 %) | I 1 tilstand |
| PAX6paired box 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Meget ofte (80–99 %) | I 2 tilstande |
| PEX7peroxisomal biogenesis factor 7 | Meget ofte (80–99 %) | I 3 tilstande |
| PGM3phosphoglucomutase 3 | Meget ofte (80–99 %) | I 2 tilstande |
| PHYHphytanoyl-CoA 2-hydroxylase | Meget ofte (80–99 %) | I 2 tilstande |
| PIBF1progesterone immunomodulatory binding factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Meget ofte (80–99 %) | I 2 tilstande |
| PMM2phosphomannomutase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PMPCApeptidase, mitochondrial processing subunit alpha | Meget ofte (80–99 %) | I 2 tilstande |
| PNPLA6patatin like domain 6, lysophospholipase | Meget ofte (80–99 %) | I 8 tilstande |
| POLR3ARNA polymerase III subunit A | Meget ofte (80–99 %) | I 4 tilstande |
| PRNPprion protein (Kanno blood group) | Meget ofte (80–99 %) | I 3 tilstande |
| PTENphosphatase and tensin homolog | Meget ofte (80–99 %) | I 2 tilstande |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Meget ofte (80–99 %) | I 3 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Meget ofte (80–99 %) | I 5 tilstande |
| SETXsenataxin | Meget ofte (80–99 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC2A1solute carrier family 2 member 1 | Meget ofte (80–99 %) | I 8 tilstande |
| SLC6A19solute carrier family 6 member 19 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC6A5solute carrier family 6 member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Meget ofte (80–99 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Meget ofte (80–99 %) | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Meget ofte (80–99 %) | I 3 tilstande |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TBPTATA-box binding protein | Meget ofte (80–99 %) | I 2 tilstande |
| TCF4transcription factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Meget ofte (80–99 %) | I 3 tilstande |
| TMEM218transmembrane protein 218 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM237transmembrane protein 237 | Meget ofte (80–99 %) | I 4 tilstande |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Meget ofte (80–99 %) | I 4 tilstande |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Meget ofte (80–99 %) | I 2 tilstande |
| TWNKtwinkle mtDNA helicase | Meget ofte (80–99 %) | I 5 tilstande |
| VLDLRvery low density lipoprotein receptor | Meget ofte (80–99 %) | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Meget ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Meget ofte (80–99 %) | I 2 tilstande |
| WDR81WD repeat domain 81 | Meget ofte (80–99 %) | I 2 tilstande |
| ZNF423zinc finger protein 423 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF592zinc finger protein 592 | Meget 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 tilstande |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 2 tilstande |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofte (30–79 %) | I 2 tilstande |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 2 tilstande |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Ofte (30–79 %) | I 2 tilstande |
| ATN1atrophin 1 | Ofte (30–79 %) | I 2 tilstande |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| BTDbiotinidase | Ofte (30–79 %) | I 2 tilstande |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Ofte (30–79 %) | I 2 tilstande |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 2 tilstande |
| CAPN1calpain 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 2 tilstande |
| COG4component of oligomeric golgi complex 4 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| CSNK2A1casein kinase 2 alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| CSTBcystatin B | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| DARS1aspartyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 2 tilstande |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 3 tilstande |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 2 tilstande |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 2 tilstande |
| GAMTguanidinoacetate N-methyltransferase | Ofte (30–79 %) | I 2 tilstande |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| GLB1galactosidase beta 1 | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ofte (30–79 %) | I 3 tilstande |
| HEPACAMhepatic and glial cell adhesion molecule | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| 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 tilstande |
| MAN2B1mannosidase alpha class 2B member 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 7 tilstande |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 2 tilstande |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 4 tilstande |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 4 tilstande |
| 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 tilstande |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| PGBD5piggyBac transposable element derived 5 | Ofte (30–79 %) | I 1 tilstand |
| PGK1phosphoglycerate kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| PRODHproline dehydrogenase 1 | Ofte (30–79 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 5 tilstande |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 3 tilstande |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 2 tilstande |
| SKOR2SKI family transcriptional corepressor 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC19A3solute carrier family 19 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 2 tilstande |
| SNORD118small nucleolar RNA, C/D box 118 | Ofte (30–79 %) | I 2 tilstande |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 3 tilstande |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 | Nogle gange (5–29 %) | I 2 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCA5ATP binding cassette subfamily A member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Nogle gange (5–29 %) | I 2 tilstande |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Nogle gange (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Nogle gange (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Nogle gange (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Nogle gange (5–29 %) | I 2 tilstande |
| ANK1ankyrin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| APPamyloid beta precursor protein | Nogle gange (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 2 tilstande |
| ATP10AATPase phospholipid transporting 10A (putative) | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Nogle gange (5–29 %) | I 2 tilstande |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Nogle gange (5–29 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Nogle gange (5–29 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Nogle gange (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP164centrosomal protein 164 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 2 tilstande |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Nogle gange (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DLDdihydrolipoamide dehydrogenase | Nogle gange (5–29 %) | I 2 tilstande |
| DLL1delta like canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 2 tilstande |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Nogle gange (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Nogle gange (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXI1forkhead box I1 | Nogle gange (5–29 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Nogle gange (5–29 %) | I 2 tilstande |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Nogle gange (5–29 %) | I 2 tilstande |
| GALTgalactose-1-phosphate uridylyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| GCKglucokinase | Nogle gange (5–29 %) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| GGT1gamma-glutamyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Nogle gange (5–29 %) | I 2 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HIC1HIC ZBTB transcriptional repressor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Nogle gange (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 2 tilstande |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLCSholocarboxylase synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Nogle gange (5–29 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Nogle gange (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Nogle gange (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| INSinsulin | Nogle gange (5–29 %) | I 1 tilstand |
| INVSinversin | Nogle gange (5–29 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Nogle gange (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| KIF5Akinesin family member 5A | Nogle gange (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Nogle gange (5–29 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| LGI3leucine rich repeat LGI family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| LRP12LDL receptor related protein 12 | Nogle gange (5–29 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Nogle gange (5–29 %) | I 2 tilstande |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 2 tilstande |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 2 tilstande |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Nogle gange (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Nogle gange (5–29 %) | I 2 tilstande |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Nogle gange (5–29 %) | I 2 tilstande |
| MTO1mitochondrial tRNA translation optimization 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Nogle gange (5–29 %) | I 2 tilstande |
| MYD88MYD88 innate immune signal transduction adaptor | Nogle gange (5–29 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Nogle gange (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 2 tilstande |
| NDNFneuron derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Nogle gange (5–29 %) | I 2 tilstande |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Nogle gange (5–29 %) | I 2 tilstande |
| NIPA1NIPA magnesium transporter 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Nogle gange (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Nogle gange (5–29 %) | I 2 tilstande |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PDX1pancreatic and duodenal homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Nogle gange (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Nogle gange (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Nogle gange (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nogle gange (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Nogle gange (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM8PR/SET domain 8 | Nogle gange (5–29 %) | I 2 tilstande |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| PSEN1presenilin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSEN2presenilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 2 tilstande |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RFC4replication factor C subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Nogle gange (5–29 %) | I 2 tilstande |
| RNASET2ribonuclease T2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF168ring finger protein 168 | Nogle gange (5–29 %) | I 2 tilstande |
| RNU5B-1RNA, U5B small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SCAPERS-phase cyclin A associated protein in the ER | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Nogle gange (5–29 %) | I 2 tilstande |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Nogle gange (5–29 %) | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC19A2solute carrier family 19 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC26A4solute carrier family 26 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 3 tilstande |
| SLC6A11solute carrier family 6 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Nogle gange (5–29 %) | I 1 tilstand |
| SNAI2snail family transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SORL1sortilin related receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Nogle gange (5–29 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Bsyntaxin 1B | Nogle gange (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SZT2SZT2 subunit of KICSTOR complex | Nogle gange (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TATtyrosine aminotransferase | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 2 tilstande |
| TELO2telomere maintenance 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TERCtelomerase RNA component | Nogle gange (5–29 %) | I 2 tilstande |
| TERTtelomerase reverse transcriptase | Nogle gange (5–29 %) | I 3 tilstande |
| TGFB1transforming growth factor beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Nogle gange (5–29 %) | I 5 tilstande |
| TK2thymidine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TOMM40translocase of outer mitochondrial membrane 40 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Nogle gange (5–29 %) | I 2 tilstande |
| TREM2triggering receptor expressed on myeloid cells 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Nogle gange (5–29 %) | I 2 tilstande |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Nogle gange (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Nogle gange (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 2 tilstande |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 2 tilstande |
| ALKALK receptor tyrosine kinase | Sjældent (1–4%) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Sjældent (1–4%) | I 1 tilstand |
| BMP15bone morphogenetic protein 15 | Sjældent (1–4%) | I 1 tilstand |
| BNC1basonuclin zinc finger protein 1 | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sjældent (1–4%) | I 1 tilstand |
| EXOSC3exosome component 3 | Sjældent (1–4%) | I 1 tilstand |
| EXOSC8exosome component 8 | Sjældent (1–4%) | I 1 tilstand |
| EXOSC9exosome component 9 | Sjældent (1–4%) | I 1 tilstand |
| FIGLAfolliculogenesis specific bHLH transcription factor | Sjældent (1–4%) | I 1 tilstand |
| FSHRfollicle stimulating hormone receptor | Sjældent (1–4%) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sjældent (1–4%) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Sjældent (1–4%) | I 1 tilstand |
| LMO1LIM domain only 1 | Sjældent (1–4%) | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Sjældent (1–4%) | I 1 tilstand |
| MSH4mutS homolog 4 | Sjældent (1–4%) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sjældent (1–4%) | I 1 tilstand |
| NAGSN-acetylglutamate synthase | Sjældent (1–4%) | I 1 tilstand |
| NEFLneurofilament light chain | Sjældent (1–4%) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Sjældent (1–4%) | I 1 tilstand |
| NUP107nucleoporin 107 | Sjældent (1–4%) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Sjældent (1–4%) | I 1 tilstand |
| POLR3HRNA polymerase III subunit H | Sjældent (1–4%) | I 1 tilstand |
| PSMC3IPPSMC3 interacting protein | Sjældent (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjældent (1–4%) | I 1 tilstand |
| SPASTspastin | Sjældent (1–4%) | I 1 tilstand |
| SPIDRscaffold protein involved in DNA repair | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| STARD7StAR related lipid transfer domain containing 7 | Sjældent (1–4%) | I 1 tilstand |
| ZSWIM7zinc finger SWIM-type containing 7 | Sjældent (1–4%) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ikke registreret | I 1 tilstand |
| APOBapolipoprotein B | Ikke registreret | I 1 tilstand |
| ARSAarylsulfatase A | Ikke registreret | I 1 tilstand |
| ASS1argininosuccinate synthase 1 | Ikke registreret | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ikke registreret | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ikke registreret | I 1 tilstand |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Ikke registreret | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registreret | I 1 tilstand |
| BEAN1brain expressed associated with NEDD4 1 | Ikke registreret | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registreret | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Ikke registreret | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registreret | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 2 tilstande |
| CPS1carbamoyl-phosphate synthase 1 | Ikke registreret | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| DCXdoublecortin | Ikke registreret | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registreret | I 1 tilstand |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Ikke registreret | I 1 tilstand |
| EDNRBendothelin receptor type B | Ikke registreret | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ikke registreret | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Ikke registreret | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ikke registreret | I 1 tilstand |
| FTLferritin light chain | Ikke registreret | I 1 tilstand |
| FXNfrataxin | Ikke registreret | I 2 tilstande |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ikke registreret | I 1 tilstand |
| GPIglucose-6-phosphate isomerase | Ikke registreret | I 1 tilstand |
| GSSglutathione synthetase | Ikke registreret | I 1 tilstand |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Ikke registreret | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registreret | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ikke registreret | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ikke registreret | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Ikke registreret | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 2 tilstande |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registreret | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ikke registreret | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ikke registreret | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ikke registreret | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registreret | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registreret | I 1 tilstand |
| NFASCneurofascin | Ikke registreret | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registreret | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registreret | I 1 tilstand |
| NUP214nucleoporin 214 | Ikke registreret | I 1 tilstand |
| OTCornithine transcarbamylase | Ikke registreret | I 1 tilstand |
| OXR1oxidation resistance 1 | Ikke registreret | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| RNASEH1ribonuclease H1 | Ikke registreret | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Ikke registreret | I 1 tilstand |
| RPIAribose 5-phosphate isomerase A | Ikke registreret | I 1 tilstand |
| SLC12A3solute carrier family 12 member 3 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SLC39A4solute carrier family 39 member 4 | Ikke registreret | I 1 tilstand |
| SLC46A1solute carrier family 46 member 1 | Ikke registreret | I 1 tilstand |
| SLC52A2solute carrier family 52 member 2 | Ikke registreret | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registreret | I 1 tilstand |
| SUOXsulfite oxidase | Ikke registreret | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registreret | I 1 tilstand |
| TCN2transcobalamin 2 | Ikke registreret | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registreret | I 2 tilstande |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| TNPO2transportin 2 | Ikke registreret | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Ikke registreret | I 1 tilstand |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Ikke registreret | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registreret | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
- 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 træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger