Træk
Generalized decreased muscle tone
Klinisk navn: Generalized hypotonia
Generalized muscular hypotonia (abnormally low muscle tone).
Resumé
- Også kaldet
- Generalised decreased muscle tone, Generalised hypotonia, Generalised muscular hypotonia, Generalized muscular hypotonia, Hypotonia, generalised, Hypotonia, generalized
- Kropssystem
- Abnormality of the musculoskeletal system
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Generalized decreased muscle tone 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Altid | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Altid | I 3 tilstande |
| ACY1aminoacylase 1 | Altid | I 1 tilstand |
| ADAM22ADAM metallopeptidase domain 22 | Altid | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Altid | I 2 tilstande |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Altid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| ARL13BARF like GTPase 13B | Altid | I 1 tilstand |
| BCORBCL6 corepressor | Altid | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Altid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CHKBcholine kinase beta | Altid | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Altid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Altid | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Altid | I 2 tilstande |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altid | I 2 tilstande |
| COX15cytochrome c oxidase assembly factor COX15 | Altid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Altid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Altid | I 1 tilstand |
| COX6A2cytochrome c oxidase subunit 6A2 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 2 tilstande |
| DAG1dystroglycan 1 | Altid | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Altid | I 2 tilstande |
| DNM2dynamin 2 | Altid | I 3 tilstande |
| DSTdystonin | Altid | I 2 tilstande |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Altid | I 1 tilstand |
| EBF3EBF transcription factor 3 | Altid | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| EN1engrailed homeobox 1 | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| EXOSC5exosome component 5 | Altid | I 1 tilstand |
| EXOSC9exosome component 9 | Altid | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Altid | I 1 tilstand |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Altid | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altid | I 2 tilstande |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FOXG1forkhead box G1 | Altid | I 2 tilstande |
| FOXP1forkhead box P1 | Altid | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Altid | I 2 tilstande |
Vis 655 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GALTgalactose-1-phosphate uridylyltransferase | Altid | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Altid | I 1 tilstand |
| GLB1galactosidase beta 1 | Altid | I 1 tilstand |
| GLULglutamate-ammonia ligase | Altid | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Altid | I 1 tilstand |
| GPHNgephyrin | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Altid | I 1 tilstand |
| IFT81intraflagellar transport 81 | Altid | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Altid | I 1 tilstand |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 3 tilstande |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Altid | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 2 tilstande |
| LMOD3leiomodin 3 | Altid | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Altid | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Altid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Altid | I 1 tilstand |
| MOCS3molybdenum cofactor synthesis 3 | Altid | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Altid | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Altid | I 1 tilstand |
| MRPS14mitochondrial ribosomal protein S14 | Altid | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Altid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altid | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altid | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Altid | I 2 tilstande |
| MYH2myosin heavy chain 2 | Altid | I 1 tilstand |
| MYL2myosin light chain 2 | Altid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Altid | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Altid | I 2 tilstande |
| NAV3neuron navigator 3 | Altid | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Altid | I 1 tilstand |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Altid | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Altid | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Altid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| ODC1ornithine decarboxylase 1 | Altid | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Altid | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Altid | I 2 tilstande |
| PDHBpyruvate dehydrogenase E1 subunit beta | Altid | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Altid | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Altid | I 2 tilstande |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Altid | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Altid | I 1 tilstand |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Altid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 1 tilstand |
| PRDM13PR/SET domain 13 | Altid | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Altid | I 2 tilstande |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Altid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Altid | I 2 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altid | I 2 tilstande |
| SERPINH1serpin family H member 1 | Altid | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Altid | I 2 tilstande |
| SLC25A10solute carrier family 25 member 10 | Altid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Altid | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altid | I 1 tilstand |
| SSR4signal sequence receptor subunit 4 | Altid | I 2 tilstande |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Altid | I 1 tilstand |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Altid | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altid | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Altid | I 1 tilstand |
| TASP1taspase 1 | Altid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Altid | I 1 tilstand |
| TK2thymidine kinase 2 | Altid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 2 tilstande |
| TRA2Btransformer 2 beta homolog | Altid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Altid | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Altid | I 1 tilstand |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Altid | I 1 tilstand |
| ADSLadenylosuccinate lyase | Meget ofte (80–99 %) | I 2 tilstande |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| CHD1chromodomain helicase DNA binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Meget ofte (80–99 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GANgigaxonin | Meget ofte (80–99 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Meget ofte (80–99 %) | I 2 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Meget ofte (80–99 %) | I 1 tilstand |
| MAMLD1mastermind like domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Meget ofte (80–99 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Meget ofte (80–99 %) | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Meget ofte (80–99 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Meget ofte (80–99 %) | I 1 tilstand |
| MTM1myotubularin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MTX2metaxin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MYO5Amyosin VA | Meget ofte (80–99 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Meget ofte (80–99 %) | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Meget ofte (80–99 %) | I 2 tilstande |
| PWAR1Prader Willi/Angelman region RNA 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Meget ofte (80–99 %) | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Meget ofte (80–99 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Meget ofte (80–99 %) | I 4 tilstande |
| SELENONselenoprotein N | Meget ofte (80–99 %) | I 3 tilstande |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Meget ofte (80–99 %) | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Meget ofte (80–99 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Meget ofte (80–99 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Meget ofte (80–99 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TRMUtRNA mitochondrial 2-thiouridylase | Meget ofte (80–99 %) | I 2 tilstande |
| WASF1WASP family member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 2 tilstande |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 1 tilstand |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 2 tilstande |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstande |
| ATCAYATCAY kinesin light chain interacting caytaxin | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 2 tilstande |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 2 tilstande |
| BMP1bone morphogenetic protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ofte (30–79 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Ofte (30–79 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Ofte (30–79 %) | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Ofte (30–79 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Ofte (30–79 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ofte (30–79 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Ofte (30–79 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 2 tilstande |
| COL6A1collagen type VI alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A2collagen type VI alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 2 tilstande |
| CSNK2Bcasein kinase 2 beta | Ofte (30–79 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ofte (30–79 %) | I 2 tilstande |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Ofte (30–79 %) | I 1 tilstand |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Ofte (30–79 %) | I 2 tilstande |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Ofte (30–79 %) | I 2 tilstande |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ofte (30–79 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 2 tilstande |
| DHX16DEAH-box helicase 16 | Ofte (30–79 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 3 tilstande |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 2 tilstande |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 1 tilstand |
| FKRPfukutin related protein | Ofte (30–79 %) | I 2 tilstande |
| FKTNfukutin | Ofte (30–79 %) | I 2 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| FMN2formin 2 | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ofte (30–79 %) | I 2 tilstande |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ofte (30–79 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ofte (30–79 %) | I 2 tilstande |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Ofte (30–79 %) | I 2 tilstande |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ofte (30–79 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Ofte (30–79 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Ofte (30–79 %) | I 2 tilstande |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| MAGmyelin associated glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAST1microtubule associated serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Ofte (30–79 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 2 tilstande |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MYF6myogenic factor 6 | Ofte (30–79 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ofte (30–79 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Ofte (30–79 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Ofte (30–79 %) | I 1 tilstand |
| NEMFnuclear export mediator factor | Ofte (30–79 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 2 tilstande |
| NOVA2NOVA alternative splicing regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ofte (30–79 %) | I 2 tilstande |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| NUP214nucleoporin 214 | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 2 tilstande |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| PAX7paired box 7 | Ofte (30–79 %) | I 1 tilstand |
| PET100PET100 cytochrome c oxidase chaperone | Ofte (30–79 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Ofte (30–79 %) | I 1 tilstand |
| PLGplasminogen | Ofte (30–79 %) | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 2 tilstande |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 4 tilstande |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKCGprotein kinase C gamma | Ofte (30–79 %) | I 1 tilstand |
| PRKD1protein kinase D1 | Ofte (30–79 %) | I 1 tilstand |
| PSAPprosaposin | Ofte (30–79 %) | I 3 tilstande |
| PTCH1patched 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 2 tilstande |
| RBM10RNA binding motif protein 10 | Ofte (30–79 %) | I 2 tilstande |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ofte (30–79 %) | I 2 tilstande |
| ROBO3roundabout guidance receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Ofte (30–79 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ofte (30–79 %) | I 2 tilstande |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 2 tilstande |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 2 tilstande |
| SLC13A3solute carrier family 13 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC25A15solute carrier family 25 member 15 | Ofte (30–79 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 2 tilstande |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Ofte (30–79 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Ofte (30–79 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ofte (30–79 %) | I 1 tilstand |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Ofte (30–79 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 2 tilstande |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TECPR2tectonin beta-propeller repeat containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Ofte (30–79 %) | I 2 tilstande |
| TTNtitin | Ofte (30–79 %) | I 2 tilstande |
| TUBB2Atubulin beta 2A class IIa | Ofte (30–79 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Ofte (30–79 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Ofte (30–79 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Ofte (30–79 %) | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Ofte (30–79 %) | I 1 tilstand |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Ofte (30–79 %) | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Nogle gange (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN1ataxin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ATXN10ataxin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EDN1endothelin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERFETS2 repressor factor | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nogle gange (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Nogle gange (5–29 %) | I 2 tilstande |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA1laminin subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Nogle gange (5–29 %) | I 2 tilstande |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POC1APOC1 centriolar protein A | Nogle gange (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 2 tilstande |
| PRNPprion protein (Kanno blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| PTCHD1patched domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Nogle gange (5–29 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 2 tilstande |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC35C1solute carrier family 35 member C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM63Atransmembrane protein 63A | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Nogle gange (5–29 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 4 tilstande |
| TPM3tropomyosin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Sjældent (1–4%) | I 1 tilstand |
| FLNAfilamin A | Sjældent (1–4%) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Sjældent (1–4%) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Sjældent (1–4%) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Sjældent (1–4%) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Sjældent (1–4%) | I 1 tilstand |
| THtyrosine hydroxylase | Sjældent (1–4%) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Ikke registreret | I 1 tilstand |
| ACAT2acetyl-CoA acetyltransferase 2 | Ikke registreret | I 1 tilstand |
| ACTBactin beta | Ikke registreret | I 1 tilstand |
| ACTN2actinin alpha 2 | Ikke registreret | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registreret | I 1 tilstand |
| AGKacylglycerol kinase | Ikke registreret | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ikke registreret | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registreret | I 1 tilstand |
| ANK3ankyrin 3 | Ikke registreret | I 1 tilstand |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Ikke registreret | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registreret | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ikke registreret | I 1 tilstand |
| ARL3ARF like GTPase 3 | Ikke registreret | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registreret | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Ikke registreret | I 1 tilstand |
| ASPNATaspartate N-acetyltransferase | Ikke registreret | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registreret | I 1 tilstand |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Ikke registreret | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ikke registreret | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registreret | I 1 tilstand |
| BOLA3bolA family member 3 | Ikke registreret | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ikke registreret | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registreret | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registreret | I 1 tilstand |
| CASRcalcium sensing receptor | Ikke registreret | I 1 tilstand |
| CD59CD59 molecule (CD59 blood group) | Ikke registreret | I 1 tilstand |
| CD96CD96 molecule | Ikke registreret | I 1 tilstand |
| CDC42cell division cycle 42 | Ikke registreret | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Ikke registreret | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Ikke registreret | I 1 tilstand |
| CEP290centrosomal protein 290 | Ikke registreret | I 1 tilstand |
| CEP41centrosomal protein 41 | Ikke registreret | I 1 tilstand |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registreret | I 2 tilstande |
| CHST14carbohydrate sulfotransferase 14 | Ikke registreret | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Ikke registreret | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ikke registreret | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ikke registreret | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registreret | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ikke registreret | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registreret | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ikke registreret | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registreret | I 1 tilstand |
| COQ9coenzyme Q9 | Ikke registreret | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Ikke registreret | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Ikke registreret | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registreret | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registreret | I 1 tilstand |
| DDX11DEAD/H-box helicase 11 | Ikke registreret | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registreret | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registreret | I 1 tilstand |
| DMPKDM1 protein kinase | Ikke registreret | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Ikke registreret | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ikke registreret | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registreret | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registreret | I 1 tilstand |
| EFNB1ephrin B1 | Ikke registreret | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| ELNelastin | Ikke registreret | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Ikke registreret | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Ikke registreret | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| EXOSC3exosome component 3 | Ikke registreret | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ikke registreret | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Ikke registreret | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registreret | I 1 tilstand |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Ikke registreret | I 1 tilstand |
| FHfumarate hydratase | Ikke registreret | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Ikke registreret | I 1 tilstand |
| FLCNfolliculin | Ikke registreret | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ikke registreret | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Ikke registreret | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ikke registreret | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Ikke registreret | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| GM2Aganglioside GM2 activator | Ikke registreret | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ikke registreret | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registreret | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ikke registreret | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| HADHhydroxyacyl-CoA dehydrogenase | Ikke registreret | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ikke registreret | I 1 tilstand |
| HEXAhexosaminidase subunit alpha | Ikke registreret | I 1 tilstand |
| HLCSholocarboxylase synthetase | Ikke registreret | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Ikke registreret | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Ikke registreret | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registreret | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registreret | I 2 tilstande |
| INPPL1inositol polyphosphate phosphatase like 1 | Ikke registreret | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Ikke registreret | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Ikke registreret | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registreret | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Ikke registreret | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ikke registreret | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ikke registreret | I 1 tilstand |
| KIF14kinesin family member 14 | Ikke registreret | I 1 tilstand |
| KIF22kinesin family member 22 | Ikke registreret | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registreret | I 1 tilstand |
| LARS1leucyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| LIASlipoic acid synthetase | Ikke registreret | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ikke registreret | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ikke registreret | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| MANBAmannosidase beta | Ikke registreret | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ikke registreret | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Ikke registreret | I 1 tilstand |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Ikke registreret | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registreret | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registreret | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ikke registreret | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ikke registreret | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | 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 |
| MMADHCmetabolism of cobalamin associated D | Ikke registreret | I 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Ikke registreret | I 1 tilstand |
| MPImannose phosphate isomerase | Ikke registreret | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| MVKmevalonate kinase | Ikke registreret | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Ikke registreret | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registreret | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Ikke registreret | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Ikke registreret | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ikke registreret | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Ikke registreret | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registreret | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Ikke registreret | I 1 tilstand |
| NEU1neuraminidase 1 | Ikke registreret | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Ikke registreret | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registreret | I 1 tilstand |
| NPHP1nephrocystin 1 | Ikke registreret | I 1 tilstand |
| NRXN1neurexin 1 | Ikke registreret | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ikke registreret | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ikke registreret | I 1 tilstand |
| PAK1p21 (RAC1) activated kinase 1 | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ikke registreret | I 1 tilstand |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registreret | I 2 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Ikke registreret | I 2 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Ikke registreret | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 2 tilstande |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ikke registreret | I 1 tilstand |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Ikke registreret | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Ikke registreret | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Ikke registreret | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registreret | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| PRF1perforin 1 | Ikke registreret | I 1 tilstand |
| PRODHproline dehydrogenase 1 | Ikke registreret | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ikke registreret | I 1 tilstand |
| RETret proto-oncogene | Ikke registreret | I 1 tilstand |
| RETREG1reticulophagy regulator 1 | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ikke registreret | I 1 tilstand |
| RPS23ribosomal protein S23 | Ikke registreret | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ikke registreret | I 1 tilstand |
| SERAC1serine active site containing 1 | Ikke registreret | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registreret | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Ikke registreret | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registreret | I 1 tilstand |
| SKISKI proto-oncogene | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 2 tilstande |
| SLC22A5solute carrier family 22 member 5 | Ikke registreret | I 1 tilstand |
| SLC25A20solute carrier family 25 member 20 | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registreret | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ikke registreret | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SLC35A3solute carrier family 35 member A3 | Ikke registreret | I 1 tilstand |
| SLC45A1solute carrier family 45 member 1 | 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 |
| SLC9A6solute carrier family 9 member A6 | Ikke registreret | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registreret | I 1 tilstand |
| SMSspermine synthase | Ikke registreret | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Ikke registreret | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ikke registreret | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ikke registreret | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registreret | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Ikke registreret | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Ikke registreret | I 1 tilstand |
| SUOXsulfite oxidase | Ikke registreret | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ikke registreret | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Ikke registreret | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registreret | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ikke registreret | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Ikke registreret | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Ikke registreret | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registreret | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registreret | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registreret | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Ikke registreret | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ikke registreret | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Ikke registreret | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ikke registreret | I 1 tilstand |
| TXN2thioredoxin 2 | Ikke registreret | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registreret | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registreret | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registreret | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| USP18ubiquitin specific peptidase 18 | Ikke registreret | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Ikke registreret | I 1 tilstand |
| VDRvitamin D receptor | Ikke registreret | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Ikke registreret | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Ikke registreret | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ikke registreret | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ikke registreret | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ikke registreret | I 1 tilstand |
| WNK1WNK lysine deficient protein kinase 1 | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 2 tilstande |
| ZNHIT3zinc finger HIT-type containing 3 | 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.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger