Træk
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Resumé
- Også kaldet
- Tremors
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test495 gener knyttet til Tremor
Ændringer i disse gener forårsager sjældne tilstande, hvor Tremor 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 |
|---|---|---|
| ADCY5adenylate cyclase 5 | Altid | I 2 tilstande |
| AMACRalpha-methylacyl-CoA racemase | Altid | I 2 tilstande |
| APTXaprataxin | Altid | I 2 tilstande |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altid | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Altid | I 2 tilstande |
| ATP7BATPase copper transporting beta | Altid | I 2 tilstande |
| ATXN7ataxin 7 | Altid | I 1 tilstand |
| CNTN2contactin 2 | Altid | I 1 tilstand |
| COA7cytochrome c oxidase assembly factor 7 | Altid | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Altid | I 2 tilstande |
| CRATcarnitine O-acetyltransferase | Altid | I 1 tilstand |
| CST3cystatin C | Altid | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 2 tilstande |
| GCH1GTP cyclohydrolase 1 | Altid | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| GUK1guanylate kinase 1 | Altid | I 1 tilstand |
| HTThuntingtin | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Altid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 1 tilstand |
| MRPL12mitochondrial ribosomal protein L12 | Altid | I 1 tilstand |
| MYL2myosin light chain 2 | Altid | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Altid | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altid | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Altid | I 2 tilstande |
| PLP1proteolipid protein 1 | Altid | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Altid | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Altid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Altid | I 2 tilstande |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Altid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Altid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Altid | I 2 tilstande |
| SLC6A17solute carrier family 6 member 17 | Altid | I 1 tilstand |
Vis 455 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Altid | I 2 tilstande |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 3 tilstande |
| YEATS2YEATS domain containing 2 | Altid | I 1 tilstand |
| ATMATM serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| 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 |
| CLCN7Cl-/H+ antiporter 7 | Meget ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CUL4Bcullin 4B | Meget ofte (80–99 %) | I 2 tilstande |
| DCTN1dynactin subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 1 tilstand |
| FGF14fibroblast growth factor 14 | Meget ofte (80–99 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | 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 |
| HNF4Ahepatocyte nuclear factor 4 alpha | Meget ofte (80–99 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Meget ofte (80–99 %) | I 2 tilstande |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Meget ofte (80–99 %) | I 2 tilstande |
| KIF1Ckinesin family member 1C | Meget ofte (80–99 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MARCHF6membrane associated ring-CH-type finger 6 | Meget ofte (80–99 %) | I 1 tilstand |
| MEN1menin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Meget ofte (80–99 %) | I 2 tilstande |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Meget ofte (80–99 %) | I 2 tilstande |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Meget ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| YY1YY1 transcription factor | Meget ofte (80–99 %) | I 3 tilstande |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ofte (30–79 %) | I 2 tilstande |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ofte (30–79 %) | I 2 tilstande |
| ATG7autophagy related 7 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 3 tilstande |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 4 tilstande |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Ofte (30–79 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 1 tilstand |
| CLTRNcollectrin, amino acid transport regulator | Ofte (30–79 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| COQ5coenzyme Q5, methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CTSFcathepsin F | Ofte (30–79 %) | I 1 tilstand |
| DAB1DAB adaptor protein 1 | Ofte (30–79 %) | I 2 tilstande |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstande |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 2 tilstande |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ofte (30–79 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Ofte (30–79 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstande |
| FRMPD4FERM and PDZ domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Ofte (30–79 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 2 tilstande |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 2 tilstande |
| HEXBhexosaminidase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Ofte (30–79 %) | I 1 tilstand |
| HPCAhippocalcin | Ofte (30–79 %) | I 2 tilstande |
| HTRA2HtrA serine peptidase 2 | Ofte (30–79 %) | I 3 tilstande |
| JAM2junctional adhesion molecule 2 | Ofte (30–79 %) | I 2 tilstande |
| LEMD3LEM domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| LNPKlunapark, ER junction formation factor | Ofte (30–79 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Ofte (30–79 %) | I 6 tilstande |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 3 tilstande |
| MICU1mitochondrial calcium uptake 1 | Ofte (30–79 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MYO5Amyosin VA | Ofte (30–79 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ofte (30–79 %) | I 2 tilstande |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| NAXENAD(P)HX epimerase | Ofte (30–79 %) | I 2 tilstande |
| NEU1neuraminidase 1 | Ofte (30–79 %) | I 1 tilstand |
| NIT1nitrilase 1 | Ofte (30–79 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Ofte (30–79 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Ofte (30–79 %) | I 2 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Ofte (30–79 %) | I 2 tilstande |
| PDYNprodynorphin | Ofte (30–79 %) | I 1 tilstand |
| PGK1phosphoglycerate kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 2 tilstande |
| PINK1PTEN induced kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| PODXLpodocalyxin like | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstande |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 2 tilstande |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Ofte (30–79 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Ofte (30–79 %) | I 1 tilstand |
| SETXsenataxin | Ofte (30–79 %) | I 1 tilstand |
| SFXN4sideroflexin 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC25A13solute carrier family 25 member 13 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstande |
| SLC6A19solute carrier family 6 member 19 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A3solute carrier family 6 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 1 tilstand |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 2 tilstande |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 3 tilstande |
| TFGtrafficking from ER to golgi regulator | Ofte (30–79 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| TMEM240transmembrane protein 240 | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | 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 |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ofte (30–79 %) | I 1 tilstand |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofte (30–79 %) | I 1 tilstand |
| WDR45WD repeat domain 45 | Ofte (30–79 %) | I 2 tilstande |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| ZNF142zinc finger protein 142 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Nogle gange (5–29 %) | I 2 tilstande |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 2 tilstande |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nogle gange (5–29 %) | I 2 tilstande |
| ANOS1anosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARL13BARF like GTPase 13B | Nogle gange (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BEAN1brain expressed associated with NEDD4 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Nogle gange (5–29 %) | I 1 tilstand |
| CD28CD28 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Nogle gange (5–29 %) | I 2 tilstande |
| CELF2CUGBP Elav-like family member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP104centrosomal protein 104 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP126centrosomal protein 126 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP41centrosomal protein 41 | Nogle gange (5–29 %) | I 2 tilstande |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Nogle gange (5–29 %) | I 2 tilstande |
| 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 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Nogle gange (5–29 %) | I 2 tilstande |
| CPceruloplasmin | Nogle gange (5–29 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Nogle gange (5–29 %) | I 3 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTHcystathionine gamma-lyase | Nogle gange (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| 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 |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ELOVL5ELOVL fatty acid elongase 5 | Nogle gange (5–29 %) | I 2 tilstande |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Nogle gange (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | 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 |
| FHfumarate hydratase | 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 |
| FTLferritin light chain | Nogle gange (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 2 tilstande |
| 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 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Nogle gange (5–29 %) | I 2 tilstande |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| GGT1gamma-glutamyltransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GJB1gap junction protein beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GNAO1G protein subunit alpha o1 | Nogle gange (5–29 %) | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | 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 |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 3 tilstande |
| IVDisovaleryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 2 tilstande |
| KIF1Bkinesin family member 1B | Nogle gange (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Nogle gange (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Nogle gange (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Nogle gange (5–29 %) | I 2 tilstande |
| MAXMYC associated transcriptional regulator X | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED11mediator complex subunit 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MFN2mitofusin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MYH14myosin heavy chain 14 | Nogle gange (5–29 %) | I 2 tilstande |
| NARS1asparaginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Nogle gange (5–29 %) | I 1 tilstand |
| NEMFnuclear export mediator factor | Nogle gange (5–29 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NFE2L2NFE2 like bZIP transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Nogle gange (5–29 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NTNG1netrin G1 | Nogle gange (5–29 %) | I 1 tilstand |
| NTNG2netrin G2 | 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 |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 3 tilstande |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PDE10Aphosphodiesterase 10A | Nogle gange (5–29 %) | I 2 tilstande |
| PDE6Dphosphodiesterase 6D | Nogle gange (5–29 %) | I 2 tilstande |
| PIBF1progesterone immunomodulatory binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Nogle gange (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Nogle gange (5–29 %) | I 1 tilstand |
| PITRM1pitrilysin metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCGprotein kinase C gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| RETret proto-oncogene | Nogle gange (5–29 %) | I 2 tilstande |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RILPL1Rab interacting lysosomal protein like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 2 tilstande |
| RPL10ribosomal protein L10 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 2 tilstande |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 3 tilstande |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Nogle gange (5–29 %) | I 3 tilstande |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Nogle gange (5–29 %) | I 2 tilstande |
| SEMA3Asemaphorin 3A | Nogle gange (5–29 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A11solute carrier family 25 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Nogle gange (5–29 %) | I 3 tilstande |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD118small nucleolar RNA, C/D box 118 | Nogle gange (5–29 %) | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 2 tilstande |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Nogle gange (5–29 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| STXBP1syntaxin binding protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 3 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 3 tilstande |
| TATtyrosine aminotransferase | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM127transmembrane protein 127 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM222transmembrane protein 222 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 2 tilstande |
| TNFRSF1BTNF receptor superfamily member 1B | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Nogle gange (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 2 tilstande |
| TTPAalpha tocopherol transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Nogle gange (5–29 %) | I 2 tilstande |
| VCPvalosin containing protein | Nogle gange (5–29 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Nogle gange (5–29 %) | I 2 tilstande |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 1 tilstand |
| ABCB11ATP binding cassette subfamily B member 11 | Sjældent (1–4%) | I 1 tilstand |
| ABCB4ATP binding cassette subfamily B member 4 | Sjældent (1–4%) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Sjældent (1–4%) | I 1 tilstand |
| ATP8B1ATPase phospholipid transporting 8B1 | Sjældent (1–4%) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Sjældent (1–4%) | I 1 tilstand |
| DDCdopa decarboxylase | Sjældent (1–4%) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Sjældent (1–4%) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Sjældent (1–4%) | I 1 tilstand |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Sjældent (1–4%) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Sjældent (1–4%) | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Sjældent (1–4%) | I 1 tilstand |
| STX1Bsyntaxin 1B | Sjældent (1–4%) | I 1 tilstand |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Ikke registreret | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registreret | I 1 tilstand |
| ARandrogen receptor | Ikke registreret | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registreret | I 1 tilstand |
| ATXN3ataxin 3 | Ikke registreret | I 1 tilstand |
| ATXN8ataxin 8 | Ikke registreret | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registreret | I 2 tilstande |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registreret | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registreret | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Ikke registreret | I 1 tilstand |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Ikke registreret | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ikke registreret | I 1 tilstand |
| MMAAmetabolism of cobalamin associated A | Ikke registreret | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ikke registreret | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Ikke registreret | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registreret | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ikke registreret | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ikke registreret | I 1 tilstand |
| OXR1oxidation resistance 1 | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| PRICKLE1prickle planar cell polarity protein 1 | Ikke registreret | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Ikke registreret | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| SAMD12sterile alpha motif domain containing 12 | Ikke registreret | I 1 tilstand |
| SGCEsarcoglycan epsilon | Ikke registreret | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ikke registreret | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ikke registreret | I 1 tilstand |
| SLC30A10solute carrier family 30 member 10 | Ikke registreret | I 1 tilstand |
| SLC39A4solute carrier family 39 member 4 | Ikke registreret | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registreret | I 1 tilstand |
| STARD7StAR related lipid transfer domain containing 7 | Ikke registreret | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registreret | I 1 tilstand |
| THtyrosine hydroxylase | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| TNPO2transportin 2 | Ikke registreret | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registreret | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Ikke registreret | I 1 tilstand |
| TTRtransthyretin | Ikke registreret | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Ikke registreret | I 1 tilstand |
| VPS35VPS35 retromer complex component | Ikke registreret | I 1 tilstand |
| WDR81WD repeat domain 81 | 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.
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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.
Én test. Svar for hele livet.
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