Cecha
Generalized decreased muscle tone
Nazwa kliniczna: Generalized hypotonia
Generalized muscular hypotonia (abnormally low muscle tone).
Podsumowanie
- Znana także jako
- Generalised decreased muscle tone, Generalised hypotonia, Generalised muscular hypotonia, Generalized muscular hypotonia, Hypotonia, generalised, Hypotonia, generalized
- Układ organizmu
- Abnormality of the musculoskeletal system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test695 genów powiązanych z Generalized decreased muscle tone
Zmiany w tych genach powodują rzadkie choroby, w których występuje Generalized decreased muscle tone. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Zawsze | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Zawsze | W 3 chorobach |
| ACY1aminoacylase 1 | Zawsze | W 1 chorobie |
| ADAM22ADAM metallopeptidase domain 22 | Zawsze | W 1 chorobie |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Zawsze | W 2 chorobach |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Zawsze | W 1 chorobie |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Zawsze | W 1 chorobie |
| ARL13BARF like GTPase 13B | Zawsze | W 1 chorobie |
| BCORBCL6 corepressor | Zawsze | W 1 chorobie |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Zawsze | W 1 chorobie |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Zawsze | W 1 chorobie |
| CHKBcholine kinase beta | Zawsze | W 1 chorobie |
| CNOT2CCR4-NOT transcription complex subunit 2 | Zawsze | W 1 chorobie |
| COG7component of oligomeric golgi complex 7 | Zawsze | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Zawsze | W 2 chorobach |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Zawsze | W 2 chorobach |
| COX15cytochrome c oxidase assembly factor COX15 | Zawsze | W 1 chorobie |
| COX18cytochrome c oxidase assembly factor COX18 | Zawsze | W 1 chorobie |
| COX4I1cytochrome c oxidase subunit 4I1 | Zawsze | W 1 chorobie |
| COX6A2cytochrome c oxidase subunit 6A2 | Zawsze | W 1 chorobie |
| COX6B1cytochrome c oxidase subunit 6B1 | Zawsze | W 2 chorobach |
| DAG1dystroglycan 1 | Zawsze | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Zawsze | W 2 chorobach |
| DNM2dynamin 2 | Zawsze | W 3 chorobach |
| DSTdystonin | Zawsze | W 2 chorobach |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Zawsze | W 1 chorobie |
| EBF3EBF transcription factor 3 | Zawsze | W 1 chorobie |
| ECHS1enoyl-CoA hydratase, short chain 1 | Zawsze | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| EN1engrailed homeobox 1 | Zawsze | W 1 chorobie |
| ERI1exoribonuclease 1 | Zawsze | W 1 chorobie |
| EXOSC5exosome component 5 | Zawsze | W 1 chorobie |
| EXOSC9exosome component 9 | Zawsze | W 1 chorobie |
| FAM177A1family with sequence similarity 177 member A1 | Zawsze | W 1 chorobie |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Zawsze | W 1 chorobie |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Zawsze | W 2 chorobach |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| FOXG1forkhead box G1 | Zawsze | W 2 chorobach |
| FOXP1forkhead box P1 | Zawsze | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Zawsze | W 2 chorobach |
Pokaż jeszcze 655 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| GALTgalactose-1-phosphate uridylyltransferase | Zawsze | W 1 chorobie |
| GARS1glycyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Zawsze | W 1 chorobie |
| GLB1galactosidase beta 1 | Zawsze | W 1 chorobie |
| GLULglutamate-ammonia ligase | Zawsze | W 1 chorobie |
| GMPPAGDP-mannose pyrophosphorylase A | Zawsze | W 1 chorobie |
| GPHNgephyrin | Zawsze | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Zawsze | W 1 chorobie |
| IFT81intraflagellar transport 81 | Zawsze | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Zawsze | W 1 chorobie |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 3 chorobach |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Zawsze | W 2 chorobach |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Zawsze | W 2 chorobach |
| LMOD3leiomodin 3 | Zawsze | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Zawsze | W 1 chorobie |
| LRRC32leucine rich repeat containing 32 | Zawsze | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| LYRM7LYR motif containing 7 | Zawsze | W 1 chorobie |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Zawsze | W 1 chorobie |
| MOCS3molybdenum cofactor synthesis 3 | Zawsze | W 1 chorobie |
| MOGSmannosyl-oligosaccharide glucosidase | Zawsze | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Zawsze | W 1 chorobie |
| MRPS14mitochondrial ribosomal protein S14 | Zawsze | W 1 chorobie |
| MRPS22mitochondrial ribosomal protein S22 | Zawsze | W 1 chorobie |
| MRPS28mitochondrial ribosomal protein S28 | Zawsze | W 1 chorobie |
| MSL2MSL complex subunit 2 | Zawsze | W 1 chorobie |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Zawsze | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Zawsze | W 1 chorobie |
| MTMR14myotubularin related protein 14 | Zawsze | W 2 chorobach |
| MYH2myosin heavy chain 2 | Zawsze | W 1 chorobie |
| MYL2myosin light chain 2 | Zawsze | W 1 chorobie |
| MYOD1myogenic differentiation 1 | Zawsze | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Zawsze | W 2 chorobach |
| NAV3neuron navigator 3 | Zawsze | W 1 chorobie |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Zawsze | W 1 chorobie |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Zawsze | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Zawsze | W 2 chorobach |
| NRASNRAS proto-oncogene, GTPase | Zawsze | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Zawsze | W 2 chorobach |
| ODC1ornithine decarboxylase 1 | Zawsze | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Zawsze | W 1 chorobie |
| PDE6Dphosphodiesterase 6D | Zawsze | W 2 chorobach |
| PDHBpyruvate dehydrogenase E1 subunit beta | Zawsze | W 1 chorobie |
| PEX14peroxisomal biogenesis factor 14 | Zawsze | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Zawsze | W 2 chorobach |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Zawsze | W 1 chorobie |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Zawsze | W 1 chorobie |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Zawsze | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Zawsze | W 1 chorobie |
| PRDM13PR/SET domain 13 | Zawsze | W 1 chorobie |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Zawsze | W 2 chorobach |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Zawsze | W 1 chorobie |
| SCO1synthesis of cytochrome C oxidase 1 | Zawsze | W 2 chorobach |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Zawsze | W 2 chorobach |
| SERPINH1serpin family H member 1 | Zawsze | W 1 chorobie |
| SLC12A2solute carrier family 12 member 2 | Zawsze | W 2 chorobach |
| SLC25A10solute carrier family 25 member 10 | Zawsze | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Zawsze | W 1 chorobie |
| SPTBN4spectrin beta, non-erythrocytic 4 | Zawsze | W 1 chorobie |
| SSR4signal sequence receptor subunit 4 | Zawsze | W 2 chorobach |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Zawsze | W 1 chorobie |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Zawsze | W 1 chorobie |
| SURF1SURF1 cytochrome c oxidase assembly factor | Zawsze | W 1 chorobie |
| TACO1translational activator of cytochrome c oxidase I | Zawsze | W 1 chorobie |
| TASP1taspase 1 | Zawsze | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Zawsze | W 1 chorobie |
| TK2thymidine kinase 2 | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 2 chorobach |
| TRA2Btransformer 2 beta homolog | Zawsze | W 1 chorobie |
| VPS51VPS51 subunit of GARP complex | Zawsze | W 1 chorobie |
| WSB2WD repeat and SOCS box containing 2 | Zawsze | W 1 chorobie |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Zawsze | W 1 chorobie |
| ADSLadenylosuccinate lyase | Bardzo często (80–99%) | W 2 chorobach |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Bardzo często (80–99%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Bardzo często (80–99%) | W 1 chorobie |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Bardzo często (80–99%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Bardzo często (80–99%) | W 2 chorobach |
| CHD1chromodomain helicase DNA binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Bardzo często (80–99%) | W 1 chorobie |
| CPLX1complexin 1 | Bardzo często (80–99%) | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| DLDdihydrolipoamide dehydrogenase | Bardzo często (80–99%) | W 1 chorobie |
| FGFRL1fibroblast growth factor receptor like 1 | Bardzo często (80–99%) | W 1 chorobie |
| GANgigaxonin | Bardzo często (80–99%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Bardzo często (80–99%) | W 1 chorobie |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Bardzo często (80–99%) | W 2 chorobach |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| KIF7kinesin family member 7 | Bardzo często (80–99%) | W 2 chorobach |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Bardzo często (80–99%) | W 1 chorobie |
| MAMLD1mastermind like domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Bardzo często (80–99%) | W 1 chorobie |
| MKRN3makorin ring finger protein 3 | Bardzo często (80–99%) | W 1 chorobie |
| MN1MN1 proto-oncogene, transcriptional regulator | Bardzo często (80–99%) | W 1 chorobie |
| MSL3MSL complex subunit 3 | Bardzo często (80–99%) | W 1 chorobie |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Bardzo często (80–99%) | W 1 chorobie |
| MTM1myotubularin 1 | Bardzo często (80–99%) | W 1 chorobie |
| MTX2metaxin 2 | Bardzo często (80–99%) | W 1 chorobie |
| MYO5Amyosin VA | Bardzo często (80–99%) | W 1 chorobie |
| NPAP1nuclear pore associated protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Bardzo często (80–99%) | W 1 chorobie |
| POLR2ARNA polymerase II subunit A | Bardzo często (80–99%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Bardzo często (80–99%) | W 2 chorobach |
| PWAR1Prader Willi/Angelman region RNA 1 | Bardzo często (80–99%) | W 1 chorobie |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Bardzo często (80–99%) | W 1 chorobie |
| RMND1required for meiotic nuclear division 1 homolog | Bardzo często (80–99%) | W 1 chorobie |
| RMP64ribonuclease MRP subunit p64 | Bardzo często (80–99%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Bardzo często (80–99%) | W 4 chorobach |
| SELENONselenoprotein N | Bardzo często (80–99%) | W 3 chorobach |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Bardzo często (80–99%) | W 1 chorobie |
| SLC18A2solute carrier family 18 member A2 | Bardzo często (80–99%) | W 1 chorobie |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Bardzo często (80–99%) | W 1 chorobie |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Bardzo często (80–99%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Bardzo często (80–99%) | W 2 chorobach |
| TRMUtRNA mitochondrial 2-thiouridylase | Bardzo często (80–99%) | W 2 chorobach |
| WASF1WASP family member 1 | Bardzo często (80–99%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| ACAD9acyl-CoA dehydrogenase family member 9 | Często (30–79%) | W 2 chorobach |
| ACTL6Bactin like 6B | Często (30–79%) | W 1 chorobie |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Często (30–79%) | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Często (30–79%) | W 1 chorobie |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Często (30–79%) | W 1 chorobie |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Często (30–79%) | W 2 chorobach |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Często (30–79%) | W 2 chorobach |
| ARSAarylsulfatase A | Często (30–79%) | W 4 chorobach |
| ATCAYATCAY kinesin light chain interacting caytaxin | Często (30–79%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Często (30–79%) | W 2 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Często (30–79%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Często (30–79%) | W 1 chorobie |
| ATXN2ataxin 2 | Często (30–79%) | W 2 chorobach |
| AUTS2activator of transcription and developmental regulator AUTS2 | Często (30–79%) | W 2 chorobach |
| B4GALT7beta-1,4-galactosyltransferase 7 | Często (30–79%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Często (30–79%) | W 1 chorobie |
| BIN1bridging integrator 1 | Często (30–79%) | W 2 chorobach |
| BMP1bone morphogenetic protein 1 | Często (30–79%) | W 1 chorobie |
| BORCS8BLOC-1 related complex subunit 8 | Często (30–79%) | W 1 chorobie |
| BPTFbromodomain PHD finger transcription factor | Często (30–79%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Często (30–79%) | W 2 chorobach |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Często (30–79%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Często (30–79%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Często (30–79%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Często (30–79%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Często (30–79%) | W 1 chorobie |
| CEP104centrosomal protein 104 | Często (30–79%) | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Często (30–79%) | W 1 chorobie |
| CLCN6Cl-/H+ antiporter 6 | Często (30–79%) | W 1 chorobie |
| CLCN7Cl-/H+ antiporter 7 | Często (30–79%) | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Często (30–79%) | W 1 chorobie |
| CLTCclathrin heavy chain | Często (30–79%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Często (30–79%) | W 1 chorobie |
| COA8cytochrome c oxidase assembly factor 8 | Często (30–79%) | W 1 chorobie |
| COG6component of oligomeric golgi complex 6 | Często (30–79%) | W 1 chorobie |
| COL12A1collagen type XII alpha 1 chain | Często (30–79%) | W 2 chorobach |
| COL13A1collagen type XIII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL1A2collagen type I alpha 2 chain | Często (30–79%) | W 2 chorobach |
| COL6A1collagen type VI alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL6A2collagen type VI alpha 2 chain | Często (30–79%) | W 1 chorobie |
| COL6A3collagen type VI alpha 3 chain | Często (30–79%) | W 1 chorobie |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Często (30–79%) | W 2 chorobach |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Często (30–79%) | W 2 chorobach |
| CSNK2Bcasein kinase 2 beta | Często (30–79%) | W 1 chorobie |
| CSPP1centrosome and spindle pole associated protein 1 | Często (30–79%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Często (30–79%) | W 2 chorobach |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Często (30–79%) | W 1 chorobie |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Często (30–79%) | W 2 chorobach |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Często (30–79%) | W 2 chorobach |
| DDX3XDEAD-box helicase 3 X-linked | Często (30–79%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Często (30–79%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Często (30–79%) | W 2 chorobach |
| DHX16DEAH-box helicase 16 | Często (30–79%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 1 chorobie |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 1 chorobie |
| DNA2DNA replication helicase/nuclease 2 | Często (30–79%) | W 1 chorobie |
| DNM1dynamin 1 | Często (30–79%) | W 3 chorobach |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Często (30–79%) | W 2 chorobach |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Często (30–79%) | W 2 chorobach |
| EBPEBP cholestenol delta-isomerase | Często (30–79%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Często (30–79%) | W 1 chorobie |
| ETHE1ETHE1 persulfide dioxygenase | Często (30–79%) | W 1 chorobie |
| FAM149B1family with sequence similarity 149 member B1 | Często (30–79%) | W 1 chorobie |
| FBXO22F-box protein 22 | Często (30–79%) | W 1 chorobie |
| FBXO28F-box protein 28 | Często (30–79%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Często (30–79%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 1 chorobie |
| FKRPfukutin related protein | Często (30–79%) | W 2 chorobach |
| FKTNfukutin | Często (30–79%) | W 2 chorobach |
| FLVCR1FLVCR choline and heme transporter 1 | Często (30–79%) | W 1 chorobie |
| FMN2formin 2 | Często (30–79%) | W 1 chorobie |
| FOXH1forkhead box H1 | Często (30–79%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Często (30–79%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Często (30–79%) | W 2 chorobach |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Często (30–79%) | W 2 chorobach |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Często (30–79%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Często (30–79%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Często (30–79%) | W 1 chorobie |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Często (30–79%) | W 2 chorobach |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Często (30–79%) | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Często (30–79%) | W 1 chorobie |
| GPX4glutathione peroxidase 4 | Często (30–79%) | W 2 chorobach |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Często (30–79%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Często (30–79%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Często (30–79%) | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| ITCHitchy E3 ubiquitin protein ligase | Często (30–79%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Często (30–79%) | W 1 chorobie |
| KATNIPkatanin interacting protein | Często (30–79%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Często (30–79%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Często (30–79%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Często (30–79%) | W 1 chorobie |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Często (30–79%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Często (30–79%) | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Często (30–79%) | W 1 chorobie |
| KCNK9potassium two pore domain channel subfamily K member 9 | Często (30–79%) | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Często (30–79%) | W 1 chorobie |
| KDM3Blysine demethylase 3B | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 1 chorobie |
| KIAA0586KIAA0586 | Często (30–79%) | W 2 chorobach |
| KIAA0753KIAA0753 | Często (30–79%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Często (30–79%) | W 1 chorobie |
| MAGmyelin associated glycoprotein | Często (30–79%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Często (30–79%) | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Często (30–79%) | W 1 chorobie |
| MAPK1mitogen-activated protein kinase 1 | Często (30–79%) | W 1 chorobie |
| MAST1microtubule associated serine/threonine kinase 1 | Często (30–79%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Często (30–79%) | W 1 chorobie |
| MED12Lmediator complex subunit 12L | Często (30–79%) | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Często (30–79%) | W 2 chorobach |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Często (30–79%) | W 1 chorobie |
| MRE11MRE11 double strand break repair nuclease | Często (30–79%) | W 1 chorobie |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Często (30–79%) | W 2 chorobach |
| MYF6myogenic factor 6 | Często (30–79%) | W 1 chorobie |
| MYH7myosin heavy chain 7 | Często (30–79%) | W 1 chorobie |
| MYO18Bmyosin XVIIIB | Często (30–79%) | W 1 chorobie |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Często (30–79%) | W 1 chorobie |
| NARS1asparaginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Często (30–79%) | W 1 chorobie |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Często (30–79%) | W 1 chorobie |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Często (30–79%) | W 1 chorobie |
| NEMFnuclear export mediator factor | Często (30–79%) | W 1 chorobie |
| NKX6-2NK6 homeobox 2 | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 1 chorobie |
| NONOnon-POU domain containing octamer binding | Często (30–79%) | W 2 chorobach |
| NOVA2NOVA alternative splicing regulator 2 | Często (30–79%) | W 1 chorobie |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Często (30–79%) | W 2 chorobach |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Często (30–79%) | W 2 chorobach |
| NUP214nucleoporin 214 | Często (30–79%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Często (30–79%) | W 1 chorobie |
| OPHN1oligophrenin 1 | Często (30–79%) | W 2 chorobach |
| OTUD6BOTU deubiquitinase 6B | Często (30–79%) | W 2 chorobach |
| PACS2phosphofurin acidic cluster sorting protein 2 | Często (30–79%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| PAX7paired box 7 | Często (30–79%) | W 1 chorobie |
| PET100PET100 cytochrome c oxidase chaperone | Często (30–79%) | W 1 chorobie |
| PHF21APHD finger protein 21A | Często (30–79%) | W 1 chorobie |
| PLGplasminogen | Często (30–79%) | W 1 chorobie |
| PMP22peripheral myelin protein 22 | Często (30–79%) | W 1 chorobie |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Często (30–79%) | W 2 chorobach |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 4 chorobach |
| POMT1protein O-mannosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| POU3F3POU class 3 homeobox 3 | Często (30–79%) | W 1 chorobie |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Często (30–79%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PRKCGprotein kinase C gamma | Często (30–79%) | W 1 chorobie |
| PRKD1protein kinase D1 | Często (30–79%) | W 1 chorobie |
| PSAPprosaposin | Często (30–79%) | W 3 chorobach |
| PTCH1patched 1 | Często (30–79%) | W 1 chorobie |
| PUS1pseudouridine synthase 1 | Często (30–79%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 2 chorobach |
| RBM10RNA binding motif protein 10 | Często (30–79%) | W 2 chorobach |
| RELREL proto-oncogene, NF-kB subunit | Często (30–79%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Często (30–79%) | W 2 chorobach |
| ROBO3roundabout guidance receptor 3 | Często (30–79%) | W 1 chorobie |
| RORARAR related orphan receptor A | Często (30–79%) | W 1 chorobie |
| RSPRY1ring finger and SPRY domain containing 1 | Często (30–79%) | W 2 chorobach |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Często (30–79%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Często (30–79%) | W 2 chorobach |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Często (30–79%) | W 2 chorobach |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Często (30–79%) | W 1 chorobie |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Często (30–79%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Często (30–79%) | W 2 chorobach |
| SLC13A3solute carrier family 13 member 3 | Często (30–79%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Często (30–79%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Często (30–79%) | W 2 chorobach |
| SLC25A15solute carrier family 25 member 15 | Często (30–79%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Często (30–79%) | W 1 chorobie |
| SPARTspartin | Często (30–79%) | W 1 chorobie |
| SPEGstriated muscle enriched protein kinase | Często (30–79%) | W 2 chorobach |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 2 chorobach |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 1 chorobie |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Często (30–79%) | W 1 chorobie |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Często (30–79%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Często (30–79%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Często (30–79%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Często (30–79%) | W 1 chorobie |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Często (30–79%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Często (30–79%) | W 1 chorobie |
| TBCEtubulin folding cofactor E | Często (30–79%) | W 2 chorobach |
| TCTN3tectonic family member 3 | Często (30–79%) | W 1 chorobie |
| TECPR2tectonin beta-propeller repeat containing 2 | Często (30–79%) | W 1 chorobie |
| TET3tet methylcytosine dioxygenase 3 | Często (30–79%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 1 chorobie |
| TIMM50translocase of inner mitochondrial membrane 50 | Często (30–79%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Często (30–79%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Często (30–79%) | W 1 chorobie |
| TRIP4thyroid hormone receptor interactor 4 | Często (30–79%) | W 2 chorobach |
| TTNtitin | Często (30–79%) | W 2 chorobach |
| TUBB2Atubulin beta 2A class IIa | Często (30–79%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Często (30–79%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Często (30–79%) | W 1 chorobie |
| USP9Xubiquitin specific peptidase 9 X-linked | Często (30–79%) | W 1 chorobie |
| VARS1valyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| VMA22vacuolar ATPase assembly factor VMA22 | Często (30–79%) | W 1 chorobie |
| XPO1exportin 1 | Często (30–79%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Często (30–79%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 1 chorobie |
| ZNF462zinc finger protein 462 | Często (30–79%) | W 1 chorobie |
| ADARB1adenosine deaminase RNA specific B1 | Czasami (5–29%) | W 1 chorobie |
| APCAPC regulator of Wnt signaling pathway | Czasami (5–29%) | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Czasami (5–29%) | W 1 chorobie |
| ATXN1ataxin 1 | Czasami (5–29%) | W 2 chorobach |
| ATXN10ataxin 10 | Czasami (5–29%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Czasami (5–29%) | W 1 chorobie |
| COG1component of oligomeric golgi complex 1 | Czasami (5–29%) | W 1 chorobie |
| CPT2carnitine palmitoyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| DBR1debranching RNA lariats 1 | Czasami (5–29%) | W 1 chorobie |
| EDN1endothelin 1 | Czasami (5–29%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| ERFETS2 repressor factor | Czasami (5–29%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Czasami (5–29%) | W 1 chorobie |
| FBXW11F-box and WD repeat domain containing 11 | Czasami (5–29%) | W 1 chorobie |
| GLRX5glutaredoxin 5 | Czasami (5–29%) | W 1 chorobie |
| GNAI3G protein subunit alpha i3 | Czasami (5–29%) | W 1 chorobie |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Czasami (5–29%) | W 1 chorobie |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | Czasami (5–29%) | W 1 chorobie |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Czasami (5–29%) | W 1 chorobie |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Czasami (5–29%) | W 1 chorobie |
| KBTBD13kelch repeat and BTB domain containing 13 | Czasami (5–29%) | W 1 chorobie |
| KIF1Akinesin family member 1A | Czasami (5–29%) | W 2 chorobach |
| KLHL41kelch like family member 41 | Czasami (5–29%) | W 1 chorobie |
| LAMA1laminin subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Czasami (5–29%) | W 1 chorobie |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| MYPNmyopalladin | Czasami (5–29%) | W 2 chorobach |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Czasami (5–29%) | W 1 chorobie |
| NEBnebulin | Czasami (5–29%) | W 1 chorobie |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| PLCB4phospholipase C beta 4 | Czasami (5–29%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Czasami (5–29%) | W 1 chorobie |
| POC1APOC1 centriolar protein A | Czasami (5–29%) | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 2 chorobach |
| PRNPprion protein (Kanno blood group) | Czasami (5–29%) | W 1 chorobie |
| PTCHD1patched domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Czasami (5–29%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Czasami (5–29%) | W 1 chorobie |
| PUS3pseudouridine synthase 3 | Czasami (5–29%) | W 1 chorobie |
| RNF113Aring finger protein 113A | Czasami (5–29%) | W 1 chorobie |
| RNF13ring finger protein 13 | Czasami (5–29%) | W 1 chorobie |
| RPL10ribosomal protein L10 | Czasami (5–29%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Czasami (5–29%) | W 2 chorobach |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Czasami (5–29%) | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Czasami (5–29%) | W 1 chorobie |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Czasami (5–29%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Czasami (5–29%) | W 1 chorobie |
| SLC25A26solute carrier family 25 member 26 | Czasami (5–29%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Czasami (5–29%) | W 2 chorobach |
| SLC35C1solute carrier family 35 member C1 | Czasami (5–29%) | W 1 chorobie |
| SLC9A7solute carrier family 9 member A7 | Czasami (5–29%) | W 1 chorobie |
| SOX4SRY-box transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| TARS1threonyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Czasami (5–29%) | W 2 chorobach |
| TMEM63Atransmembrane protein 63A | Czasami (5–29%) | W 1 chorobie |
| TMEM94transmembrane protein 94 | Czasami (5–29%) | W 1 chorobie |
| TNFRSF11ATNF receptor superfamily member 11a | Czasami (5–29%) | W 1 chorobie |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Czasami (5–29%) | W 1 chorobie |
| TPM2tropomyosin 2 | Czasami (5–29%) | W 4 chorobach |
| TPM3tropomyosin 3 | Czasami (5–29%) | W 2 chorobach |
| TWNKtwinkle mtDNA helicase | Czasami (5–29%) | W 1 chorobie |
| UBA1ubiquitin like modifier activating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| UGDHUDP-glucose 6-dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| AMMECR1AMMECR nuclear protein 1 | Rzadko (1–4%) | W 1 chorobie |
| FLNAfilamin A | Rzadko (1–4%) | W 1 chorobie |
| GFAPglial fibrillary acidic protein | Rzadko (1–4%) | W 1 chorobie |
| KMT2Clysine methyltransferase 2C | Rzadko (1–4%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Rzadko (1–4%) | W 1 chorobie |
| PUS7pseudouridine synthase 7 | Rzadko (1–4%) | W 1 chorobie |
| THtyrosine hydroxylase | Rzadko (1–4%) | W 1 chorobie |
| TSPOAP1TSPO associated protein 1 | Rzadko (1–4%) | W 1 chorobie |
| ACADMacyl-CoA dehydrogenase medium chain | Nie odnotowano | W 1 chorobie |
| ACAT2acetyl-CoA acetyltransferase 2 | Nie odnotowano | W 1 chorobie |
| ACTBactin beta | Nie odnotowano | W 1 chorobie |
| ACTN2actinin alpha 2 | Nie odnotowano | W 1 chorobie |
| AGAaspartylglucosaminidase | Nie odnotowano | W 1 chorobie |
| AGKacylglycerol kinase | Nie odnotowano | W 1 chorobie |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Nie odnotowano | W 1 chorobie |
| AMER1APC membrane recruitment protein 1 | Nie odnotowano | W 1 chorobie |
| ANK3ankyrin 3 | Nie odnotowano | W 1 chorobie |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Nie odnotowano | W 1 chorobie |
| ARHGAP31Rho GTPase activating protein 31 | Nie odnotowano | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Nie odnotowano | W 1 chorobie |
| ARL3ARF like GTPase 3 | Nie odnotowano | W 1 chorobie |
| ARXaristaless related homeobox | Nie odnotowano | W 1 chorobie |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Nie odnotowano | W 1 chorobie |
| ASPNATaspartate N-acetyltransferase | Nie odnotowano | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Nie odnotowano | W 1 chorobie |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Nie odnotowano | W 1 chorobie |
| BCL11BBCL11 transcription factor B | Nie odnotowano | W 1 chorobie |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Nie odnotowano | W 1 chorobie |
| BLTP1bridge-like lipid transfer protein family member 1 | Nie odnotowano | W 1 chorobie |
| BMPERBMP binding endothelial regulator | Nie odnotowano | W 1 chorobie |
| BOLA3bolA family member 3 | Nie odnotowano | W 1 chorobie |
| BSNDbarttin CLCNK type accessory subunit beta | Nie odnotowano | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nie odnotowano | W 1 chorobie |
| C2CD3C2 domain containing 3 centriole elongation regulator | Nie odnotowano | W 1 chorobie |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Nie odnotowano | W 1 chorobie |
| CANT1calcium activated nucleotidase 1 | Nie odnotowano | W 1 chorobie |
| CASRcalcium sensing receptor | Nie odnotowano | W 1 chorobie |
| CD59CD59 molecule (CD59 blood group) | Nie odnotowano | W 1 chorobie |
| CD96CD96 molecule | Nie odnotowano | W 1 chorobie |
| CDC42cell division cycle 42 | Nie odnotowano | W 1 chorobie |
| CDK10cyclin dependent kinase 10 | Nie odnotowano | W 1 chorobie |
| CDK8cyclin dependent kinase 8 | Nie odnotowano | W 1 chorobie |
| CEP290centrosomal protein 290 | Nie odnotowano | W 1 chorobie |
| CEP41centrosomal protein 41 | Nie odnotowano | W 1 chorobie |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Nie odnotowano | W 2 chorobach |
| CHST14carbohydrate sulfotransferase 14 | Nie odnotowano | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Nie odnotowano | W 1 chorobie |
| CLCNKAchloride voltage-gated channel Ka | Nie odnotowano | W 1 chorobie |
| CLCNKBchloride voltage-gated channel Kb | Nie odnotowano | W 1 chorobie |
| CNTNAP1contactin associated protein 1 | Nie odnotowano | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Nie odnotowano | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Nie odnotowano | W 1 chorobie |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Nie odnotowano | W 1 chorobie |
| COQ7coenzyme Q7, hydroxylase | Nie odnotowano | W 1 chorobie |
| COQ9coenzyme Q9 | Nie odnotowano | W 1 chorobie |
| CPT1Acarnitine palmitoyltransferase 1A | Nie odnotowano | W 1 chorobie |
| CTU2cytosolic thiouridylase subunit 2 | Nie odnotowano | W 1 chorobie |
| CUL4Bcullin 4B | Nie odnotowano | W 1 chorobie |
| DCHS1dachsous cadherin-related 1 | Nie odnotowano | W 1 chorobie |
| DDX11DEAD/H-box helicase 11 | Nie odnotowano | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Nie odnotowano | W 1 chorobie |
| DHFRdihydrofolate reductase | Nie odnotowano | W 1 chorobie |
| DMPKDM1 protein kinase | Nie odnotowano | W 1 chorobie |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Nie odnotowano | W 1 chorobie |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nie odnotowano | W 1 chorobie |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Nie odnotowano | W 1 chorobie |
| EEDembryonic ectoderm development | Nie odnotowano | W 1 chorobie |
| EFNB1ephrin B1 | Nie odnotowano | W 1 chorobie |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Nie odnotowano | W 1 chorobie |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Nie odnotowano | W 1 chorobie |
| ELNelastin | Nie odnotowano | W 1 chorobie |
| ELP1elongator acetyltransferase complex subunit 1 | Nie odnotowano | W 1 chorobie |
| EMC1ER membrane protein complex subunit 1 | Nie odnotowano | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| EXOSC3exosome component 3 | Nie odnotowano | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Nie odnotowano | W 1 chorobie |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Nie odnotowano | W 1 chorobie |
| FDX2ferredoxin 2 | Nie odnotowano | W 1 chorobie |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Nie odnotowano | W 1 chorobie |
| FHfumarate hydratase | Nie odnotowano | W 1 chorobie |
| FLAD1flavin adenine dinucleotide synthetase 1 | Nie odnotowano | W 1 chorobie |
| FLCNfolliculin | Nie odnotowano | W 1 chorobie |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Nie odnotowano | W 1 chorobie |
| GALEUDP-galactose-4-epimerase | Nie odnotowano | W 1 chorobie |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Nie odnotowano | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Nie odnotowano | W 1 chorobie |
| GLDCglycine decarboxylase | Nie odnotowano | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Nie odnotowano | W 1 chorobie |
| GM2Aganglioside GM2 activator | Nie odnotowano | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Nie odnotowano | W 1 chorobie |
| GNPATglyceronephosphate O-acyltransferase | Nie odnotowano | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Nie odnotowano | W 1 chorobie |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Nie odnotowano | W 1 chorobie |
| HADHhydroxyacyl-CoA dehydrogenase | Nie odnotowano | W 1 chorobie |
| HDAC8histone deacetylase 8 | Nie odnotowano | W 1 chorobie |
| HEXAhexosaminidase subunit alpha | Nie odnotowano | W 1 chorobie |
| HLCSholocarboxylase synthetase | Nie odnotowano | W 1 chorobie |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Nie odnotowano | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nie odnotowano | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Nie odnotowano | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Nie odnotowano | W 2 chorobach |
| INPPL1inositol polyphosphate phosphatase like 1 | Nie odnotowano | W 1 chorobie |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Nie odnotowano | W 1 chorobie |
| ISCA2iron-sulfur cluster assembly 2 | Nie odnotowano | W 1 chorobie |
| KAT6Blysine acetyltransferase 6B | Nie odnotowano | W 1 chorobie |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Nie odnotowano | W 1 chorobie |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nie odnotowano | W 1 chorobie |
| KDM1Alysine demethylase 1A | Nie odnotowano | W 1 chorobie |
| KIF14kinesin family member 14 | Nie odnotowano | W 1 chorobie |
| KIF22kinesin family member 22 | Nie odnotowano | W 1 chorobie |
| KMT2Elysine methyltransferase 2E (inactive) | Nie odnotowano | W 1 chorobie |
| LARS1leucyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| LIASlipoic acid synthetase | Nie odnotowano | W 1 chorobie |
| LIFRLIF receptor subunit alpha | Nie odnotowano | W 1 chorobie |
| LMBRD1LMBR1 domain containing 1 | Nie odnotowano | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Nie odnotowano | W 1 chorobie |
| MANBAmannosidase beta | Nie odnotowano | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nie odnotowano | W 1 chorobie |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Nie odnotowano | W 1 chorobie |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Nie odnotowano | W 1 chorobie |
| MCOLN1mucolipin TRP cation channel 1 | Nie odnotowano | W 1 chorobie |
| MED12mediator complex subunit 12 | Nie odnotowano | W 1 chorobie |
| MED13Lmediator complex subunit 13L | Nie odnotowano | W 1 chorobie |
| MLXIPLMLX interacting protein like | Nie odnotowano | W 1 chorobie |
| MLYCDmalonyl-CoA decarboxylase | Nie odnotowano | W 1 chorobie |
| MMAAmetabolism of cobalamin associated A | Nie odnotowano | W 1 chorobie |
| MMACHCmetabolism of cobalamin associated C | Nie odnotowano | W 1 chorobie |
| MMADHCmetabolism of cobalamin associated D | Nie odnotowano | W 1 chorobie |
| MPC1mitochondrial pyruvate carrier 1 | Nie odnotowano | W 1 chorobie |
| MPImannose phosphate isomerase | Nie odnotowano | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Nie odnotowano | W 1 chorobie |
| MUSKmuscle associated receptor tyrosine kinase | Nie odnotowano | W 1 chorobie |
| MVKmevalonate kinase | Nie odnotowano | W 1 chorobie |
| MYMKmyomaker, myoblast fusion factor | Nie odnotowano | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Nie odnotowano | W 1 chorobie |
| NANSN-acetylneuraminate synthase | Nie odnotowano | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Nie odnotowano | W 1 chorobie |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Nie odnotowano | W 1 chorobie |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Nie odnotowano | W 1 chorobie |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Nie odnotowano | W 1 chorobie |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Nie odnotowano | W 1 chorobie |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Nie odnotowano | W 1 chorobie |
| NEU1neuraminidase 1 | Nie odnotowano | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Nie odnotowano | W 1 chorobie |
| NPC1NPC intracellular cholesterol transporter 1 | Nie odnotowano | W 1 chorobie |
| NPHP1nephrocystin 1 | Nie odnotowano | W 1 chorobie |
| NRXN1neurexin 1 | Nie odnotowano | W 1 chorobie |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Nie odnotowano | W 1 chorobie |
| PACS1phosphofurin acidic cluster sorting protein 1 | Nie odnotowano | W 1 chorobie |
| PAK1p21 (RAC1) activated kinase 1 | Nie odnotowano | W 1 chorobie |
| PBX1PBX homeobox 1 | Nie odnotowano | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nie odnotowano | W 1 chorobie |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Nie odnotowano | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Nie odnotowano | W 2 chorobach |
| PEX12peroxisomal biogenesis factor 12 | Nie odnotowano | W 2 chorobach |
| PEX16peroxisomal biogenesis factor 16 | Nie odnotowano | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Nie odnotowano | W 1 chorobie |
| PEX3peroxisomal biogenesis factor 3 | Nie odnotowano | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Nie odnotowano | W 1 chorobie |
| PGM3phosphoglucomutase 3 | Nie odnotowano | W 1 chorobie |
| PHF6PHD finger protein 6 | Nie odnotowano | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nie odnotowano | W 2 chorobach |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Nie odnotowano | W 1 chorobie |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Nie odnotowano | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nie odnotowano | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nie odnotowano | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nie odnotowano | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nie odnotowano | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Nie odnotowano | W 1 chorobie |
| PMPCApeptidase, mitochondrial processing subunit alpha | Nie odnotowano | W 1 chorobie |
| PNPpurine nucleoside phosphorylase | Nie odnotowano | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Nie odnotowano | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Nie odnotowano | W 1 chorobie |
| PPT1palmitoyl-protein thioesterase 1 | Nie odnotowano | W 1 chorobie |
| PRDX1peroxiredoxin 1 | Nie odnotowano | W 1 chorobie |
| PRF1perforin 1 | Nie odnotowano | W 1 chorobie |
| PRODHproline dehydrogenase 1 | Nie odnotowano | W 1 chorobie |
| PTDSS1phosphatidylserine synthase 1 | Nie odnotowano | W 1 chorobie |
| RETret proto-oncogene | Nie odnotowano | W 1 chorobie |
| RETREG1reticulophagy regulator 1 | Nie odnotowano | W 1 chorobie |
| RLIMring finger protein, LIM domain interacting | Nie odnotowano | W 1 chorobie |
| RNASEH2Cribonuclease H2 subunit C | Nie odnotowano | W 1 chorobie |
| RPS23ribosomal protein S23 | Nie odnotowano | W 1 chorobie |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Nie odnotowano | W 1 chorobie |
| SERAC1serine active site containing 1 | Nie odnotowano | W 1 chorobie |
| SETD2SET domain containing 2, histone lysine methyltransferase | Nie odnotowano | W 1 chorobie |
| SGPL1sphingosine-1-phosphate lyase 1 | Nie odnotowano | W 1 chorobie |
| SIX6SIX homeobox 6 | Nie odnotowano | W 1 chorobie |
| SKISKI proto-oncogene | Nie odnotowano | W 1 chorobie |
| SLC17A5solute carrier family 17 member 5 | Nie odnotowano | W 2 chorobach |
| SLC22A5solute carrier family 22 member 5 | Nie odnotowano | W 1 chorobie |
| SLC25A20solute carrier family 25 member 20 | Nie odnotowano | W 1 chorobie |
| SLC25A24solute carrier family 25 member 24 | Nie odnotowano | W 1 chorobie |
| SLC25A42solute carrier family 25 member 42 | Nie odnotowano | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Nie odnotowano | W 1 chorobie |
| SLC2A10solute carrier family 2 member 10 | Nie odnotowano | W 1 chorobie |
| SLC35A1solute carrier family 35 member A1 | Nie odnotowano | W 1 chorobie |
| SLC35A3solute carrier family 35 member A3 | Nie odnotowano | W 1 chorobie |
| SLC45A1solute carrier family 45 member 1 | Nie odnotowano | W 1 chorobie |
| SLC46A1solute carrier family 46 member 1 | Nie odnotowano | W 1 chorobie |
| SLC52A2solute carrier family 52 member 2 | Nie odnotowano | W 1 chorobie |
| SLC9A6solute carrier family 9 member A6 | Nie odnotowano | W 1 chorobie |
| SMN1survival of motor neuron 1, telomeric | Nie odnotowano | W 1 chorobie |
| SMSspermine synthase | Nie odnotowano | W 1 chorobie |
| SOX2SRY-box transcription factor 2 | Nie odnotowano | W 1 chorobie |
| SOX5SRY-box transcription factor 5 | Nie odnotowano | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Nie odnotowano | W 1 chorobie |
| STAMBPSTAM binding protein | Nie odnotowano | W 1 chorobie |
| STRA6signaling receptor and transporter of retinol STRA6 | Nie odnotowano | W 1 chorobie |
| STRADASTE20 related adaptor alpha | Nie odnotowano | W 1 chorobie |
| SUOXsulfite oxidase | Nie odnotowano | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nie odnotowano | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Nie odnotowano | W 1 chorobie |
| TBC1D23TBC1 domain family member 23 | Nie odnotowano | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Nie odnotowano | W 1 chorobie |
| TBR1T-box brain transcription factor 1 | Nie odnotowano | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Nie odnotowano | W 1 chorobie |
| TLK2tousled like kinase 2 | Nie odnotowano | W 1 chorobie |
| TMEM237transmembrane protein 237 | Nie odnotowano | W 1 chorobie |
| TMEM67transmembrane protein 67 | Nie odnotowano | W 1 chorobie |
| TMEM70transmembrane protein 70 | Nie odnotowano | W 1 chorobie |
| TPI1triosephosphate isomerase 1 | Nie odnotowano | W 1 chorobie |
| TRAPPC11trafficking protein particle complex subunit 11 | Nie odnotowano | W 1 chorobie |
| TRIT1tRNA isopentenyltransferase 1 | Nie odnotowano | W 1 chorobie |
| TRNT1tRNA nucleotidyl transferase 1 | Nie odnotowano | W 1 chorobie |
| TRPS1transcriptional repressor GATA binding 1 | Nie odnotowano | W 1 chorobie |
| TSFMTs translation elongation factor, mitochondrial | Nie odnotowano | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Nie odnotowano | W 1 chorobie |
| TXN2thioredoxin 2 | Nie odnotowano | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Nie odnotowano | W 1 chorobie |
| UBE3Bubiquitin protein ligase E3B | Nie odnotowano | W 1 chorobie |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Nie odnotowano | W 1 chorobie |
| UFM1ubiquitin fold modifier 1 | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
| USP18ubiquitin specific peptidase 18 | Nie odnotowano | W 1 chorobie |
| USP7ubiquitin specific peptidase 7 | Nie odnotowano | W 1 chorobie |
| VDRvitamin D receptor | Nie odnotowano | W 1 chorobie |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Nie odnotowano | W 1 chorobie |
| VLDLRvery low density lipoprotein receptor | Nie odnotowano | W 1 chorobie |
| VPS33BVPS33B late endosome and lysosome associated | Nie odnotowano | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Nie odnotowano | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Nie odnotowano | W 1 chorobie |
| WNK1WNK lysine deficient protein kinase 1 | Nie odnotowano | W 1 chorobie |
| WNK3WNK lysine deficient protein kinase 3 | Nie odnotowano | W 1 chorobie |
| ZBTB18zinc finger and BTB domain containing 18 | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 2 chorobach |
| ZNHIT3zinc finger HIT-type containing 3 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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