Požymis
Generalized decreased muscle tone
Klinikinis pavadinimas: Generalized hypotonia
Generalized muscular hypotonia (abnormally low muscle tone).
Santrauka
- Taip pat vadinama
- Generalised decreased muscle tone, Generalised hypotonia, Generalised muscular hypotonia, Generalized muscular hypotonia, Hypotonia, generalised, Hypotonia, generalized
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Generalized decreased muscle tone, and the rest of your genome, with one test.
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Įsigyti savo Genome Test695 genų susiję su Generalized decreased muscle tone
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Generalized decreased muscle tone. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Visada | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Visada | 3 ligose |
| ACY1aminoacylase 1 | Visada | 1 ligoje |
| ADAM22ADAM metallopeptidase domain 22 | Visada | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Visada | 2 ligose |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Visada | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ARL13BARF like GTPase 13B | Visada | 1 ligoje |
| BCORBCL6 corepressor | Visada | 1 ligoje |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Visada | 1 ligoje |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Visada | 1 ligoje |
| CHKBcholine kinase beta | Visada | 1 ligoje |
| CNOT2CCR4-NOT transcription complex subunit 2 | Visada | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Visada | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Visada | 2 ligose |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Visada | 2 ligose |
| COX15cytochrome c oxidase assembly factor COX15 | Visada | 1 ligoje |
| COX18cytochrome c oxidase assembly factor COX18 | Visada | 1 ligoje |
| COX4I1cytochrome c oxidase subunit 4I1 | Visada | 1 ligoje |
| COX6A2cytochrome c oxidase subunit 6A2 | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 2 ligose |
| DAG1dystroglycan 1 | Visada | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Visada | 2 ligose |
| DNM2dynamin 2 | Visada | 3 ligose |
| DSTdystonin | Visada | 2 ligose |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Visada | 1 ligoje |
| EBF3EBF transcription factor 3 | Visada | 1 ligoje |
| ECHS1enoyl-CoA hydratase, short chain 1 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| EN1engrailed homeobox 1 | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| EXOSC5exosome component 5 | Visada | 1 ligoje |
| EXOSC9exosome component 9 | Visada | 1 ligoje |
| FAM177A1family with sequence similarity 177 member A1 | Visada | 1 ligoje |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Visada | 1 ligoje |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Visada | 2 ligose |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| FOXG1forkhead box G1 | Visada | 2 ligose |
| FOXP1forkhead box P1 | Visada | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Visada | 2 ligose |
Rodyti dar 655 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GALTgalactose-1-phosphate uridylyltransferase | Visada | 1 ligoje |
| GARS1glycyl-tRNA synthetase 1 | Visada | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Visada | 1 ligoje |
| GLB1galactosidase beta 1 | Visada | 1 ligoje |
| GLULglutamate-ammonia ligase | Visada | 1 ligoje |
| GMPPAGDP-mannose pyrophosphorylase A | Visada | 1 ligoje |
| GPHNgephyrin | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Visada | 1 ligoje |
| IFT81intraflagellar transport 81 | Visada | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Visada | 1 ligoje |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 3 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Visada | 2 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 2 ligose |
| LMOD3leiomodin 3 | Visada | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Visada | 1 ligoje |
| LRRC32leucine rich repeat containing 32 | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| LYRM7LYR motif containing 7 | Visada | 1 ligoje |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Visada | 1 ligoje |
| MOCS3molybdenum cofactor synthesis 3 | Visada | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Visada | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| MRPS14mitochondrial ribosomal protein S14 | Visada | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Visada | 1 ligoje |
| MRPS28mitochondrial ribosomal protein S28 | Visada | 1 ligoje |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Visada | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Visada | 1 ligoje |
| MTMR14myotubularin related protein 14 | Visada | 2 ligose |
| MYH2myosin heavy chain 2 | Visada | 1 ligoje |
| MYL2myosin light chain 2 | Visada | 1 ligoje |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Visada | 2 ligose |
| NAV3neuron navigator 3 | Visada | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Visada | 1 ligoje |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Visada | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Visada | 2 ligose |
| NRASNRAS proto-oncogene, GTPase | Visada | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Visada | 2 ligose |
| ODC1ornithine decarboxylase 1 | Visada | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Visada | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Visada | 2 ligose |
| PDHBpyruvate dehydrogenase E1 subunit beta | Visada | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Visada | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Visada | 2 ligose |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Visada | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Visada | 1 ligoje |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Visada | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Visada | 1 ligoje |
| PRDM13PR/SET domain 13 | Visada | 1 ligoje |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Visada | 2 ligose |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Visada | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Visada | 2 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Visada | 2 ligose |
| SERPINH1serpin family H member 1 | Visada | 1 ligoje |
| SLC12A2solute carrier family 12 member 2 | Visada | 2 ligose |
| SLC25A10solute carrier family 25 member 10 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 1 ligoje |
| SPTBN4spectrin beta, non-erythrocytic 4 | Visada | 1 ligoje |
| SSR4signal sequence receptor subunit 4 | Visada | 2 ligose |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Visada | 1 ligoje |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Visada | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Visada | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Visada | 1 ligoje |
| TASP1taspase 1 | Visada | 1 ligoje |
| TBCKTBC1 domain containing kinase | Visada | 1 ligoje |
| TK2thymidine kinase 2 | Visada | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 2 ligose |
| TRA2Btransformer 2 beta homolog | Visada | 1 ligoje |
| VPS51VPS51 subunit of GARP complex | Visada | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Visada | 1 ligoje |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Visada | 1 ligoje |
| ADSLadenylosuccinate lyase | Labai dažnai (80–99%) | 2 ligose |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Labai dažnai (80–99%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Labai dažnai (80–99%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 2 ligose |
| CHD1chromodomain helicase DNA binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Labai dažnai (80–99%) | 1 ligoje |
| CPLX1complexin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| DLDdihydrolipoamide dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Labai dažnai (80–99%) | 1 ligoje |
| GANgigaxonin | Labai dažnai (80–99%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Labai dažnai (80–99%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Labai dažnai (80–99%) | 2 ligose |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| KIF7kinesin family member 7 | Labai dažnai (80–99%) | 2 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Labai dažnai (80–99%) | 1 ligoje |
| MAMLD1mastermind like domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Labai dažnai (80–99%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Labai dažnai (80–99%) | 1 ligoje |
| MSL3MSL complex subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Labai dažnai (80–99%) | 1 ligoje |
| MTM1myotubularin 1 | Labai dažnai (80–99%) | 1 ligoje |
| MTX2metaxin 2 | Labai dažnai (80–99%) | 1 ligoje |
| MYO5Amyosin VA | Labai dažnai (80–99%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Labai dažnai (80–99%) | 1 ligoje |
| POLR2ARNA polymerase II subunit A | Labai dažnai (80–99%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Labai dažnai (80–99%) | 2 ligose |
| PWAR1Prader Willi/Angelman region RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Labai dažnai (80–99%) | 1 ligoje |
| RMP64ribonuclease MRP subunit p64 | Labai dažnai (80–99%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Labai dažnai (80–99%) | 4 ligose |
| SELENONselenoprotein N | Labai dažnai (80–99%) | 3 ligose |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Labai dažnai (80–99%) | 1 ligoje |
| SLC18A2solute carrier family 18 member A2 | Labai dažnai (80–99%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Labai dažnai (80–99%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Labai dažnai (80–99%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Labai dažnai (80–99%) | 2 ligose |
| TRMUtRNA mitochondrial 2-thiouridylase | Labai dažnai (80–99%) | 2 ligose |
| WASF1WASP family member 1 | Labai dažnai (80–99%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| ACAD9acyl-CoA dehydrogenase family member 9 | Dažnai (30–79%) | 2 ligose |
| ACTL6Bactin like 6B | Dažnai (30–79%) | 1 ligoje |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Dažnai (30–79%) | 1 ligoje |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Dažnai (30–79%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Dažnai (30–79%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Dažnai (30–79%) | 2 ligose |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Dažnai (30–79%) | 2 ligose |
| ARSAarylsulfatase A | Dažnai (30–79%) | 4 ligose |
| ATCAYATCAY kinesin light chain interacting caytaxin | Dažnai (30–79%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 1 ligoje |
| ATXN2ataxin 2 | Dažnai (30–79%) | 2 ligose |
| AUTS2activator of transcription and developmental regulator AUTS2 | Dažnai (30–79%) | 2 ligose |
| B4GALT7beta-1,4-galactosyltransferase 7 | Dažnai (30–79%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 1 ligoje |
| BIN1bridging integrator 1 | Dažnai (30–79%) | 2 ligose |
| BMP1bone morphogenetic protein 1 | Dažnai (30–79%) | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Dažnai (30–79%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Dažnai (30–79%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 2 ligose |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Dažnai (30–79%) | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Dažnai (30–79%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Dažnai (30–79%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Dažnai (30–79%) | 1 ligoje |
| CEP104centrosomal protein 104 | Dažnai (30–79%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Dažnai (30–79%) | 1 ligoje |
| CLCN6Cl-/H+ antiporter 6 | Dažnai (30–79%) | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Dažnai (30–79%) | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Dažnai (30–79%) | 1 ligoje |
| CLTCclathrin heavy chain | Dažnai (30–79%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Dažnai (30–79%) | 1 ligoje |
| COA8cytochrome c oxidase assembly factor 8 | Dažnai (30–79%) | 1 ligoje |
| COG6component of oligomeric golgi complex 6 | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL13A1collagen type XIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Dažnai (30–79%) | 2 ligose |
| COL6A1collagen type VI alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A3collagen type VI alpha 3 chain | Dažnai (30–79%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| CRIPTOcripto, EGF-CFC family member | Dažnai (30–79%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 2 ligose |
| CSNK2Bcasein kinase 2 beta | Dažnai (30–79%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Dažnai (30–79%) | 2 ligose |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Dažnai (30–79%) | 1 ligoje |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Dažnai (30–79%) | 2 ligose |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Dažnai (30–79%) | 2 ligose |
| DDX3XDEAD-box helicase 3 X-linked | Dažnai (30–79%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Dažnai (30–79%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 2 ligose |
| DHX16DEAH-box helicase 16 | Dažnai (30–79%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Dažnai (30–79%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Dažnai (30–79%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Dažnai (30–79%) | 1 ligoje |
| DNM1dynamin 1 | Dažnai (30–79%) | 3 ligose |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Dažnai (30–79%) | 2 ligose |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Dažnai (30–79%) | 2 ligose |
| EBPEBP cholestenol delta-isomerase | Dažnai (30–79%) | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ETHE1ETHE1 persulfide dioxygenase | Dažnai (30–79%) | 1 ligoje |
| FAM149B1family with sequence similarity 149 member B1 | Dažnai (30–79%) | 1 ligoje |
| FBXO22F-box protein 22 | Dažnai (30–79%) | 1 ligoje |
| FBXO28F-box protein 28 | Dažnai (30–79%) | 1 ligoje |
| FGF12fibroblast growth factor 12 | Dažnai (30–79%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Dažnai (30–79%) | 1 ligoje |
| FKRPfukutin related protein | Dažnai (30–79%) | 2 ligose |
| FKTNfukutin | Dažnai (30–79%) | 2 ligose |
| FLVCR1FLVCR choline and heme transporter 1 | Dažnai (30–79%) | 1 ligoje |
| FMN2formin 2 | Dažnai (30–79%) | 1 ligoje |
| FOXH1forkhead box H1 | Dažnai (30–79%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Dažnai (30–79%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Dažnai (30–79%) | 2 ligose |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Dažnai (30–79%) | 2 ligose |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Dažnai (30–79%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Dažnai (30–79%) | 1 ligoje |
| GAS1growth arrest specific 1 | Dažnai (30–79%) | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Dažnai (30–79%) | 2 ligose |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Dažnai (30–79%) | 1 ligoje |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Dažnai (30–79%) | 1 ligoje |
| GPX4glutathione peroxidase 4 | Dažnai (30–79%) | 2 ligose |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Dažnai (30–79%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Dažnai (30–79%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KATNIPkatanin interacting protein | Dažnai (30–79%) | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Dažnai (30–79%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Dažnai (30–79%) | 1 ligoje |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Dažnai (30–79%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Dažnai (30–79%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Dažnai (30–79%) | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Dažnai (30–79%) | 1 ligoje |
| KDM3Blysine demethylase 3B | Dažnai (30–79%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 1 ligoje |
| KIAA0586KIAA0586 | Dažnai (30–79%) | 2 ligose |
| KIAA0753KIAA0753 | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| MAGmyelin associated glycoprotein | Dažnai (30–79%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MAST1microtubule associated serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Dažnai (30–79%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Dažnai (30–79%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Dažnai (30–79%) | 2 ligose |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Dažnai (30–79%) | 1 ligoje |
| MRE11MRE11 double strand break repair nuclease | Dažnai (30–79%) | 1 ligoje |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Dažnai (30–79%) | 2 ligose |
| MYF6myogenic factor 6 | Dažnai (30–79%) | 1 ligoje |
| MYH7myosin heavy chain 7 | Dažnai (30–79%) | 1 ligoje |
| MYO18Bmyosin XVIIIB | Dažnai (30–79%) | 1 ligoje |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Dažnai (30–79%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Dažnai (30–79%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Dažnai (30–79%) | 1 ligoje |
| NEMFnuclear export mediator factor | Dažnai (30–79%) | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| NODALnodal growth differentiation factor | Dažnai (30–79%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Dažnai (30–79%) | 2 ligose |
| NOVA2NOVA alternative splicing regulator 2 | Dažnai (30–79%) | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Dažnai (30–79%) | 2 ligose |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Dažnai (30–79%) | 2 ligose |
| NUP214nucleoporin 214 | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 1 ligoje |
| OPHN1oligophrenin 1 | Dažnai (30–79%) | 2 ligose |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PACS2phosphofurin acidic cluster sorting protein 2 | Dažnai (30–79%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| PAX7paired box 7 | Dažnai (30–79%) | 1 ligoje |
| PET100PET100 cytochrome c oxidase chaperone | Dažnai (30–79%) | 1 ligoje |
| PHF21APHD finger protein 21A | Dažnai (30–79%) | 1 ligoje |
| PLGplasminogen | Dažnai (30–79%) | 1 ligoje |
| PMP22peripheral myelin protein 22 | Dažnai (30–79%) | 1 ligoje |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Dažnai (30–79%) | 2 ligose |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 4 ligose |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| POU3F3POU class 3 homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PRKCGprotein kinase C gamma | Dažnai (30–79%) | 1 ligoje |
| PRKD1protein kinase D1 | Dažnai (30–79%) | 1 ligoje |
| PSAPprosaposin | Dažnai (30–79%) | 3 ligose |
| PTCH1patched 1 | Dažnai (30–79%) | 1 ligoje |
| PUS1pseudouridine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 2 ligose |
| RBM10RNA binding motif protein 10 | Dažnai (30–79%) | 2 ligose |
| RELREL proto-oncogene, NF-kB subunit | Dažnai (30–79%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Dažnai (30–79%) | 2 ligose |
| ROBO3roundabout guidance receptor 3 | Dažnai (30–79%) | 1 ligoje |
| RORARAR related orphan receptor A | Dažnai (30–79%) | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Dažnai (30–79%) | 2 ligose |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Dažnai (30–79%) | 2 ligose |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 2 ligose |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Dažnai (30–79%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 1 ligoje |
| SIX3SIX homeobox 3 | Dažnai (30–79%) | 2 ligose |
| SLC13A3solute carrier family 13 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Dažnai (30–79%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Dažnai (30–79%) | 2 ligose |
| SLC25A15solute carrier family 25 member 15 | Dažnai (30–79%) | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Dažnai (30–79%) | 1 ligoje |
| SPARTspartin | Dažnai (30–79%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Dažnai (30–79%) | 2 ligose |
| STAG2STAG2 cohesin complex component | Dažnai (30–79%) | 2 ligose |
| STILSTIL centriolar assembly protein | Dažnai (30–79%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Dažnai (30–79%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Dažnai (30–79%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Dažnai (30–79%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Dažnai (30–79%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Dažnai (30–79%) | 1 ligoje |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Dažnai (30–79%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Dažnai (30–79%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Dažnai (30–79%) | 2 ligose |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TECPR2tectonin beta-propeller repeat containing 2 | Dažnai (30–79%) | 1 ligoje |
| TET3tet methylcytosine dioxygenase 3 | Dažnai (30–79%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| TIMM50translocase of inner mitochondrial membrane 50 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Dažnai (30–79%) | 1 ligoje |
| TRIP4thyroid hormone receptor interactor 4 | Dažnai (30–79%) | 2 ligose |
| TTNtitin | Dažnai (30–79%) | 2 ligose |
| TUBB2Atubulin beta 2A class IIa | Dažnai (30–79%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Dažnai (30–79%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Dažnai (30–79%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Dažnai (30–79%) | 1 ligoje |
| VARS1valyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| VMA22vacuolar ATPase assembly factor VMA22 | Dažnai (30–79%) | 1 ligoje |
| XPO1exportin 1 | Dažnai (30–79%) | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| ZNF462zinc finger protein 462 | Dažnai (30–79%) | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Kartais (5–29%) | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 1 ligoje |
| ATXN1ataxin 1 | Kartais (5–29%) | 2 ligose |
| ATXN10ataxin 10 | Kartais (5–29%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Kartais (5–29%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Kartais (5–29%) | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| EDN1endothelin 1 | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERFETS2 repressor factor | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FBXW11F-box and WD repeat domain containing 11 | Kartais (5–29%) | 1 ligoje |
| GLRX5glutaredoxin 5 | Kartais (5–29%) | 1 ligoje |
| GNAI3G protein subunit alpha i3 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| KBTBD13kelch repeat and BTB domain containing 13 | Kartais (5–29%) | 1 ligoje |
| KIF1Akinesin family member 1A | Kartais (5–29%) | 2 ligose |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| LAMA1laminin subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 2 ligose |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 1 ligoje |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| PLCB4phospholipase C beta 4 | Kartais (5–29%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Kartais (5–29%) | 1 ligoje |
| POC1APOC1 centriolar protein A | Kartais (5–29%) | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Kartais (5–29%) | 2 ligose |
| PRNPprion protein (Kanno blood group) | Kartais (5–29%) | 1 ligoje |
| PTCHD1patched domain containing 1 | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| PUS3pseudouridine synthase 3 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RNF13ring finger protein 13 | Kartais (5–29%) | 1 ligoje |
| RPL10ribosomal protein L10 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 2 ligose |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Kartais (5–29%) | 1 ligoje |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Kartais (5–29%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Kartais (5–29%) | 1 ligoje |
| SLC25A26solute carrier family 25 member 26 | Kartais (5–29%) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Kartais (5–29%) | 2 ligose |
| SLC35C1solute carrier family 35 member C1 | Kartais (5–29%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Kartais (5–29%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Kartais (5–29%) | 2 ligose |
| TMEM63Atransmembrane protein 63A | Kartais (5–29%) | 1 ligoje |
| TMEM94transmembrane protein 94 | Kartais (5–29%) | 1 ligoje |
| TNFRSF11ATNF receptor superfamily member 11a | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 4 ligose |
| TPM3tropomyosin 3 | Kartais (5–29%) | 2 ligose |
| TWNKtwinkle mtDNA helicase | Kartais (5–29%) | 1 ligoje |
| UBA1ubiquitin like modifier activating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Kartais (5–29%) | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Retai (1–4 %) | 1 ligoje |
| FLNAfilamin A | Retai (1–4 %) | 1 ligoje |
| GFAPglial fibrillary acidic protein | Retai (1–4 %) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Retai (1–4 %) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Retai (1–4 %) | 1 ligoje |
| PUS7pseudouridine synthase 7 | Retai (1–4 %) | 1 ligoje |
| THtyrosine hydroxylase | Retai (1–4 %) | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Retai (1–4 %) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Neužfiksuota | 1 ligoje |
| ACAT2acetyl-CoA acetyltransferase 2 | Neužfiksuota | 1 ligoje |
| ACTBactin beta | Neužfiksuota | 1 ligoje |
| ACTN2actinin alpha 2 | Neužfiksuota | 1 ligoje |
| AGAaspartylglucosaminidase | Neužfiksuota | 1 ligoje |
| AGKacylglycerol kinase | Neužfiksuota | 1 ligoje |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Neužfiksuota | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Neužfiksuota | 1 ligoje |
| ANK3ankyrin 3 | Neužfiksuota | 1 ligoje |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Neužfiksuota | 1 ligoje |
| ARHGAP31Rho GTPase activating protein 31 | Neužfiksuota | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Neužfiksuota | 1 ligoje |
| ARL3ARF like GTPase 3 | Neužfiksuota | 1 ligoje |
| ARXaristaless related homeobox | Neužfiksuota | 1 ligoje |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Neužfiksuota | 1 ligoje |
| ASPNATaspartate N-acetyltransferase | Neužfiksuota | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Neužfiksuota | 1 ligoje |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Neužfiksuota | 1 ligoje |
| BCL11BBCL11 transcription factor B | Neužfiksuota | 1 ligoje |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| BMPERBMP binding endothelial regulator | Neužfiksuota | 1 ligoje |
| BOLA3bolA family member 3 | Neužfiksuota | 1 ligoje |
| BSNDbarttin CLCNK type accessory subunit beta | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Neužfiksuota | 1 ligoje |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Neužfiksuota | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Neužfiksuota | 1 ligoje |
| CASRcalcium sensing receptor | Neužfiksuota | 1 ligoje |
| CD59CD59 molecule (CD59 blood group) | Neužfiksuota | 1 ligoje |
| CD96CD96 molecule | Neužfiksuota | 1 ligoje |
| CDC42cell division cycle 42 | Neužfiksuota | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Neužfiksuota | 1 ligoje |
| CDK8cyclin dependent kinase 8 | Neužfiksuota | 1 ligoje |
| CEP290centrosomal protein 290 | Neužfiksuota | 1 ligoje |
| CEP41centrosomal protein 41 | Neužfiksuota | 1 ligoje |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Neužfiksuota | 2 ligose |
| CHST14carbohydrate sulfotransferase 14 | Neužfiksuota | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Neužfiksuota | 1 ligoje |
| CLCNKAchloride voltage-gated channel Ka | Neužfiksuota | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Neužfiksuota | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Neužfiksuota | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Neužfiksuota | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Neužfiksuota | 1 ligoje |
| COQ7coenzyme Q7, hydroxylase | Neužfiksuota | 1 ligoje |
| COQ9coenzyme Q9 | Neužfiksuota | 1 ligoje |
| CPT1Acarnitine palmitoyltransferase 1A | Neužfiksuota | 1 ligoje |
| CTU2cytosolic thiouridylase subunit 2 | Neužfiksuota | 1 ligoje |
| CUL4Bcullin 4B | Neužfiksuota | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Neužfiksuota | 1 ligoje |
| DDX11DEAD/H-box helicase 11 | Neužfiksuota | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Neužfiksuota | 1 ligoje |
| DHFRdihydrofolate reductase | Neužfiksuota | 1 ligoje |
| DMPKDM1 protein kinase | Neužfiksuota | 1 ligoje |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Neužfiksuota | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Neužfiksuota | 1 ligoje |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Neužfiksuota | 1 ligoje |
| EEDembryonic ectoderm development | Neužfiksuota | 1 ligoje |
| EFNB1ephrin B1 | Neužfiksuota | 1 ligoje |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Neužfiksuota | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Neužfiksuota | 1 ligoje |
| ELNelastin | Neužfiksuota | 1 ligoje |
| ELP1elongator acetyltransferase complex subunit 1 | Neužfiksuota | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| EXOSC3exosome component 3 | Neužfiksuota | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Neužfiksuota | 1 ligoje |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Neužfiksuota | 1 ligoje |
| FDX2ferredoxin 2 | Neužfiksuota | 1 ligoje |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Neužfiksuota | 1 ligoje |
| FHfumarate hydratase | Neužfiksuota | 1 ligoje |
| FLAD1flavin adenine dinucleotide synthetase 1 | Neužfiksuota | 1 ligoje |
| FLCNfolliculin | Neužfiksuota | 1 ligoje |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Neužfiksuota | 1 ligoje |
| GALEUDP-galactose-4-epimerase | Neužfiksuota | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Neužfiksuota | 1 ligoje |
| GCDHglutaryl-CoA dehydrogenase | Neužfiksuota | 1 ligoje |
| GLDCglycine decarboxylase | Neužfiksuota | 1 ligoje |
| GLE1GLE1 RNA export mediator | Neužfiksuota | 1 ligoje |
| GM2Aganglioside GM2 activator | Neužfiksuota | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Neužfiksuota | 1 ligoje |
| GNPATglyceronephosphate O-acyltransferase | Neužfiksuota | 1 ligoje |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Neužfiksuota | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| HADHhydroxyacyl-CoA dehydrogenase | Neužfiksuota | 1 ligoje |
| HDAC8histone deacetylase 8 | Neužfiksuota | 1 ligoje |
| HEXAhexosaminidase subunit alpha | Neužfiksuota | 1 ligoje |
| HLCSholocarboxylase synthetase | Neužfiksuota | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Neužfiksuota | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Neužfiksuota | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Neužfiksuota | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Neužfiksuota | 2 ligose |
| INPPL1inositol polyphosphate phosphatase like 1 | Neužfiksuota | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Neužfiksuota | 1 ligoje |
| ISCA2iron-sulfur cluster assembly 2 | Neužfiksuota | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Neužfiksuota | 1 ligoje |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Neužfiksuota | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Neužfiksuota | 1 ligoje |
| KDM1Alysine demethylase 1A | Neužfiksuota | 1 ligoje |
| KIF14kinesin family member 14 | Neužfiksuota | 1 ligoje |
| KIF22kinesin family member 22 | Neužfiksuota | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| LARS1leucyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| LIASlipoic acid synthetase | Neužfiksuota | 1 ligoje |
| LIFRLIF receptor subunit alpha | Neužfiksuota | 1 ligoje |
| LMBRD1LMBR1 domain containing 1 | Neužfiksuota | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Neužfiksuota | 1 ligoje |
| MANBAmannosidase beta | Neužfiksuota | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Neužfiksuota | 1 ligoje |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Neužfiksuota | 1 ligoje |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Neužfiksuota | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 1 ligoje |
| MED13Lmediator complex subunit 13L | Neužfiksuota | 1 ligoje |
| MLXIPLMLX interacting protein like | Neužfiksuota | 1 ligoje |
| MLYCDmalonyl-CoA decarboxylase | Neužfiksuota | 1 ligoje |
| MMAAmetabolism of cobalamin associated A | Neužfiksuota | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Neužfiksuota | 1 ligoje |
| MMADHCmetabolism of cobalamin associated D | Neužfiksuota | 1 ligoje |
| MPC1mitochondrial pyruvate carrier 1 | Neužfiksuota | 1 ligoje |
| MPImannose phosphate isomerase | Neužfiksuota | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| MVKmevalonate kinase | Neužfiksuota | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Neužfiksuota | 1 ligoje |
| NAGAalpha-N-acetylgalactosaminidase | Neužfiksuota | 1 ligoje |
| NANSN-acetylneuraminate synthase | Neužfiksuota | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Neužfiksuota | 1 ligoje |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Neužfiksuota | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Neužfiksuota | 1 ligoje |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Neužfiksuota | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Neužfiksuota | 1 ligoje |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Neužfiksuota | 1 ligoje |
| NEU1neuraminidase 1 | Neužfiksuota | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Neužfiksuota | 1 ligoje |
| NPC1NPC intracellular cholesterol transporter 1 | Neužfiksuota | 1 ligoje |
| NPHP1nephrocystin 1 | Neužfiksuota | 1 ligoje |
| NRXN1neurexin 1 | Neužfiksuota | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Neužfiksuota | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Neužfiksuota | 1 ligoje |
| PAK1p21 (RAC1) activated kinase 1 | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Neužfiksuota | 1 ligoje |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Neužfiksuota | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Neužfiksuota | 2 ligose |
| PEX12peroxisomal biogenesis factor 12 | Neužfiksuota | 2 ligose |
| PEX16peroxisomal biogenesis factor 16 | Neužfiksuota | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Neužfiksuota | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Neužfiksuota | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Neužfiksuota | 1 ligoje |
| PGM3phosphoglucomutase 3 | Neužfiksuota | 1 ligoje |
| PHF6PHD finger protein 6 | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 2 ligose |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Neužfiksuota | 1 ligoje |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Neužfiksuota | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Neužfiksuota | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Neužfiksuota | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Neužfiksuota | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| PMPCApeptidase, mitochondrial processing subunit alpha | Neužfiksuota | 1 ligoje |
| PNPpurine nucleoside phosphorylase | Neužfiksuota | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Neužfiksuota | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Neužfiksuota | 1 ligoje |
| PPT1palmitoyl-protein thioesterase 1 | Neužfiksuota | 1 ligoje |
| PRDX1peroxiredoxin 1 | Neužfiksuota | 1 ligoje |
| PRF1perforin 1 | Neužfiksuota | 1 ligoje |
| PRODHproline dehydrogenase 1 | Neužfiksuota | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Neužfiksuota | 1 ligoje |
| RETret proto-oncogene | Neužfiksuota | 1 ligoje |
| RETREG1reticulophagy regulator 1 | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Neužfiksuota | 1 ligoje |
| RPS23ribosomal protein S23 | Neužfiksuota | 1 ligoje |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Neužfiksuota | 1 ligoje |
| SERAC1serine active site containing 1 | Neužfiksuota | 1 ligoje |
| SETD2SET domain containing 2, histone lysine methyltransferase | Neužfiksuota | 1 ligoje |
| SGPL1sphingosine-1-phosphate lyase 1 | Neužfiksuota | 1 ligoje |
| SIX6SIX homeobox 6 | Neužfiksuota | 1 ligoje |
| SKISKI proto-oncogene | Neužfiksuota | 1 ligoje |
| SLC17A5solute carrier family 17 member 5 | Neužfiksuota | 2 ligose |
| SLC22A5solute carrier family 22 member 5 | Neužfiksuota | 1 ligoje |
| SLC25A20solute carrier family 25 member 20 | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| SLC25A42solute carrier family 25 member 42 | Neužfiksuota | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Neužfiksuota | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Neužfiksuota | 1 ligoje |
| SLC35A1solute carrier family 35 member A1 | Neužfiksuota | 1 ligoje |
| SLC35A3solute carrier family 35 member A3 | Neužfiksuota | 1 ligoje |
| SLC45A1solute carrier family 45 member 1 | Neužfiksuota | 1 ligoje |
| SLC46A1solute carrier family 46 member 1 | Neužfiksuota | 1 ligoje |
| SLC52A2solute carrier family 52 member 2 | Neužfiksuota | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Neužfiksuota | 1 ligoje |
| SMN1survival of motor neuron 1, telomeric | Neužfiksuota | 1 ligoje |
| SMSspermine synthase | Neužfiksuota | 1 ligoje |
| SOX2SRY-box transcription factor 2 | Neužfiksuota | 1 ligoje |
| SOX5SRY-box transcription factor 5 | Neužfiksuota | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Neužfiksuota | 1 ligoje |
| STAMBPSTAM binding protein | Neužfiksuota | 1 ligoje |
| STRA6signaling receptor and transporter of retinol STRA6 | Neužfiksuota | 1 ligoje |
| STRADASTE20 related adaptor alpha | Neužfiksuota | 1 ligoje |
| SUOXsulfite oxidase | Neužfiksuota | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Neužfiksuota | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Neužfiksuota | 1 ligoje |
| TBC1D23TBC1 domain family member 23 | Neužfiksuota | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Neužfiksuota | 1 ligoje |
| TBR1T-box brain transcription factor 1 | Neužfiksuota | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Neužfiksuota | 1 ligoje |
| TLK2tousled like kinase 2 | Neužfiksuota | 1 ligoje |
| TMEM237transmembrane protein 237 | Neužfiksuota | 1 ligoje |
| TMEM67transmembrane protein 67 | Neužfiksuota | 1 ligoje |
| TMEM70transmembrane protein 70 | Neužfiksuota | 1 ligoje |
| TPI1triosephosphate isomerase 1 | Neužfiksuota | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Neužfiksuota | 1 ligoje |
| TRIT1tRNA isopentenyltransferase 1 | Neužfiksuota | 1 ligoje |
| TRNT1tRNA nucleotidyl transferase 1 | Neužfiksuota | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Neužfiksuota | 1 ligoje |
| TSFMTs translation elongation factor, mitochondrial | Neužfiksuota | 1 ligoje |
| TUBA1Atubulin alpha 1a | Neužfiksuota | 1 ligoje |
| TXN2thioredoxin 2 | Neužfiksuota | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Neužfiksuota | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Neužfiksuota | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Neužfiksuota | 1 ligoje |
| UFM1ubiquitin fold modifier 1 | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| USP18ubiquitin specific peptidase 18 | Neužfiksuota | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Neužfiksuota | 1 ligoje |
| VDRvitamin D receptor | Neužfiksuota | 1 ligoje |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Neužfiksuota | 1 ligoje |
| VLDLRvery low density lipoprotein receptor | Neužfiksuota | 1 ligoje |
| VPS33BVPS33B late endosome and lysosome associated | Neužfiksuota | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Neužfiksuota | 1 ligoje |
| WASHC5WASH complex subunit 5 | Neužfiksuota | 1 ligoje |
| WNK1WNK lysine deficient protein kinase 1 | Neužfiksuota | 1 ligoje |
| WNK3WNK lysine deficient protein kinase 3 | Neužfiksuota | 1 ligoje |
| ZBTB18zinc finger and BTB domain containing 18 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 2 ligose |
| ZNHIT3zinc finger HIT-type containing 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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