Cecha
Motor delay
A type of Developmental delay characterized by a delay in acquiring motor skills.
Podsumowanie
- Znana także jako
- Delay in development of motor milestones, Delay in motor development, Delayed development of motor milestones, Delayed early motor milestones, Delayed motor development, Delayed motor milestones, Locomotor delay, Motor developmental delay, Motor developmental milestones not achieved, Slow development of motor milestones
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test768 genów powiązanych z Motor delay
Zmiany w tych genach powodują rzadkie choroby, w których występuje Motor delay. 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 2 chorobach |
| ACADSBacyl-CoA dehydrogenase short/branched chain | Zawsze | W 1 chorobie |
| ACBD5acyl-CoA binding domain containing 5 | Zawsze | W 1 chorobie |
| ACTBactin beta | Zawsze | W 1 chorobie |
| ADAadenosine deaminase | Zawsze | W 1 chorobie |
| ADARB1adenosine deaminase RNA specific B1 | Zawsze | W 1 chorobie |
| AGO2argonaute RISC catalytic component 2 | Zawsze | W 1 chorobie |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Zawsze | W 2 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Zawsze | W 2 chorobach |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Zawsze | W 3 chorobach |
| AMFRautocrine motility factor receptor | Zawsze | W 1 chorobie |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Zawsze | W 1 chorobie |
| ASPMassembly factor for spindle microtubules | Zawsze | W 1 chorobie |
| ATP2A1ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | Zawsze | W 1 chorobie |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Zawsze | W 2 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Zawsze | W 2 chorobach |
| ATP9AATPase phospholipid transporting 9A | Zawsze | W 1 chorobie |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Zawsze | W 1 chorobie |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Zawsze | W 1 chorobie |
| BCKDKbranched chain keto acid dehydrogenase kinase | Zawsze | W 1 chorobie |
| BCORBCL6 corepressor | Zawsze | W 2 chorobach |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Zawsze | W 1 chorobie |
| CDK13cyclin dependent kinase 13 | Zawsze | W 1 chorobie |
| CEP295centrosomal protein 295 | Zawsze | W 1 chorobie |
| CFL2cofilin 2 | Zawsze | W 1 chorobie |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Zawsze | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Zawsze | W 1 chorobie |
| CHRNDcholinergic receptor nicotinic delta subunit | Zawsze | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Zawsze | W 2 chorobach |
| CICcapicua transcriptional repressor | Zawsze | W 1 chorobie |
| CLCN6Cl-/H+ antiporter 6 | Zawsze | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Zawsze | W 1 chorobie |
| COG5component of oligomeric golgi complex 5 | Zawsze | W 2 chorobach |
| COL12A1collagen type XII alpha 1 chain | Zawsze | W 3 chorobach |
| COL6A1collagen type VI alpha 1 chain | Zawsze | W 2 chorobach |
| COL6A2collagen type VI alpha 2 chain | Zawsze | W 1 chorobie |
| CPEcarboxypeptidase E | Zawsze | W 1 chorobie |
| CPT1Acarnitine palmitoyltransferase 1A | Zawsze | W 1 chorobie |
| CRATcarnitine O-acetyltransferase | Zawsze | W 1 chorobie |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Zawsze | W 1 chorobie |
Pokaż jeszcze 728 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| CTBP1C-terminal binding protein 1 | Zawsze | W 1 chorobie |
| CUL3cullin 3 | Zawsze | W 1 chorobie |
| CUL4Bcullin 4B | Zawsze | W 1 chorobie |
| DAGLAdiacylglycerol lipase alpha | Zawsze | W 1 chorobie |
| DEAF1DEAF1 transcription factor | Zawsze | W 2 chorobach |
| DHRS3dehydrogenase/reductase 3 | Zawsze | W 1 chorobie |
| DHX30DExH-box helicase 30 | Zawsze | W 1 chorobie |
| DLG3discs large MAGUK scaffold protein 3 | Zawsze | W 1 chorobie |
| DMXL2Dmx like 2 | Zawsze | W 1 chorobie |
| DNASE2deoxyribonuclease 2, lysosomal | Zawsze | W 1 chorobie |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Zawsze | W 1 chorobie |
| DSTdystonin | Zawsze | W 2 chorobach |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Zawsze | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| EGR2early growth response 2 | Zawsze | W 2 chorobach |
| ELOVL1ELOVL fatty acid elongase 1 | Zawsze | W 1 chorobie |
| ERI1exoribonuclease 1 | Zawsze | W 1 chorobie |
| FBN1fibrillin 1 | Zawsze | W 2 chorobach |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Zawsze | W 1 chorobie |
| FITM2fat storage inducing transmembrane protein 2 | Zawsze | W 1 chorobie |
| FKBP14FKBP prolyl isomerase 14 | Zawsze | W 2 chorobach |
| FKTNfukutin | Zawsze | W 3 chorobach |
| FOXP1forkhead box P1 | Zawsze | W 2 chorobach |
| FRMD5FERM domain containing 5 | Zawsze | W 1 chorobie |
| FXR1FMR1 autosomal homolog 1 | Zawsze | W 2 chorobach |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Zawsze | W 1 chorobie |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Zawsze | W 1 chorobie |
| GANgigaxonin | Zawsze | W 1 chorobie |
| GARS1glycyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| GEMIN5gem nuclear organelle associated protein 5 | Zawsze | W 1 chorobie |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Zawsze | W 3 chorobach |
| GGPS1geranylgeranyl diphosphate synthase 1 | Zawsze | W 1 chorobie |
| GJC2gap junction protein gamma 2 | Zawsze | W 1 chorobie |
| GLRBglycine receptor beta | Zawsze | W 1 chorobie |
| GTPBP1GTP binding protein 1 | Zawsze | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| GUSBglucuronidase beta | Zawsze | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Zawsze | W 2 chorobach |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Zawsze | W 1 chorobie |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Zawsze | W 2 chorobach |
| HID1HID1 domain containing | Zawsze | W 1 chorobie |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Zawsze | W 1 chorobie |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Zawsze | W 1 chorobie |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Zawsze | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Zawsze | W 2 chorobach |
| IFT52intraflagellar transport 52 | Zawsze | W 1 chorobie |
| IFT74intraflagellar transport 74 | Zawsze | W 1 chorobie |
| IGF1insulin like growth factor 1 | Zawsze | W 2 chorobach |
| IL1RNinterleukin 1 receptor antagonist | Zawsze | W 1 chorobie |
| IL37interleukin 37 | Zawsze | W 1 chorobie |
| INTS11integrator complex subunit 11 | Zawsze | W 1 chorobie |
| IPO8importin 8 | Zawsze | W 1 chorobie |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Zawsze | W 1 chorobie |
| ITCHitchy E3 ubiquitin protein ligase | Zawsze | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Zawsze | W 2 chorobach |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 3 chorobach |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| KATNB1katanin regulatory subunit B1 | Zawsze | W 1 chorobie |
| KDM5Clysine demethylase 5C | Zawsze | W 1 chorobie |
| KPNA3karyopherin subunit alpha 3 | Zawsze | W 1 chorobie |
| LAMA2laminin subunit alpha 2 | Zawsze | W 3 chorobach |
| LAMB1laminin subunit beta 1 | Zawsze | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Zawsze | W 1 chorobie |
| LIASlipoic acid synthetase | Zawsze | W 1 chorobie |
| LIG1DNA ligase 1 | Zawsze | W 1 chorobie |
| LINGO1leucine rich repeat and Ig domain containing 1 | Zawsze | W 1 chorobie |
| MADDMAP kinase activating death domain | Zawsze | W 2 chorobach |
| MAN1B1mannosidase alpha class 1B member 1 | Zawsze | W 1 chorobie |
| MAN2C1mannosidase alpha class 2C member 1 | Zawsze | W 1 chorobie |
| MARS1methionyl-tRNA synthetase 1 | Zawsze | W 2 chorobach |
| MAU2MAU2 sister chromatid cohesion factor | Zawsze | W 1 chorobie |
| MBD5methyl-CpG binding domain protein 5 | Zawsze | W 1 chorobie |
| MCEEmethylmalonyl-CoA epimerase | Zawsze | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zawsze | W 1 chorobie |
| MEF2Cmyocyte enhancer factor 2C | Zawsze | W 1 chorobie |
| MFFmitochondrial fission factor | Zawsze | W 2 chorobach |
| MICU1mitochondrial calcium uptake 1 | Zawsze | W 1 chorobie |
| MLIPmuscular LMNA interacting protein | Zawsze | W 1 chorobie |
| MPZmyelin protein zero | Zawsze | W 4 chorobach |
| MRPS25mitochondrial ribosomal protein S25 | Zawsze | W 1 chorobie |
| MSL2MSL complex subunit 2 | Zawsze | W 1 chorobie |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Zawsze | W 1 chorobie |
| MYH3myosin heavy chain 3 | Zawsze | W 1 chorobie |
| MYMKmyomaker, myoblast fusion factor | Zawsze | W 1 chorobie |
| MYOD1myogenic differentiation 1 | Zawsze | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Zawsze | W 1 chorobie |
| NALCNsodium leak channel, non-selective | Zawsze | W 2 chorobach |
| NDRG1N-myc downstream regulated 1 | Zawsze | W 2 chorobach |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Zawsze | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Zawsze | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Zawsze | W 3 chorobach |
| NKX6-2NK6 homeobox 2 | Zawsze | W 1 chorobie |
| NOVA2NOVA alternative splicing regulator 2 | Zawsze | W 1 chorobie |
| NRAPnebulin related anchoring protein | Zawsze | W 1 chorobie |
| NT5C25'-nucleotidase, cytosolic II | Zawsze | W 2 chorobach |
| NTNG2netrin G2 | Zawsze | W 1 chorobie |
| NUDT2nudix hydrolase 2 | Zawsze | W 1 chorobie |
| NUP54nucleoporin 54 | Zawsze | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Zawsze | W 1 chorobie |
| PAK1p21 (RAC1) activated kinase 1 | Zawsze | W 1 chorobie |
| PET117PET117 cytochrome c oxidase chaperone | Zawsze | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Zawsze | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Zawsze | W 1 chorobie |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Zawsze | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Zawsze | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 1 chorobie |
| PMP22peripheral myelin protein 22 | Zawsze | W 2 chorobach |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| POLR3GLRNA polymerase III subunit GL | Zawsze | W 1 chorobie |
| POMKprotein O-mannose kinase | Zawsze | W 1 chorobie |
| PPIL1peptidylprolyl isomerase like 1 | Zawsze | W 1 chorobie |
| PRDM13PR/SET domain 13 | Zawsze | W 2 chorobach |
| PRR12proline rich 12 | Zawsze | W 1 chorobie |
| PRXperiaxin | Zawsze | W 2 chorobach |
| PSMB1proteasome 20S subunit beta 1 | Zawsze | W 1 chorobie |
| PSMG2proteasome assembly chaperone 2 | Zawsze | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Zawsze | W 1 chorobie |
| PTH1Rparathyroid hormone 1 receptor | Zawsze | W 1 chorobie |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Zawsze | W 1 chorobie |
| PTRH2peptidyl-tRNA hydrolase 2 | Zawsze | W 2 chorobach |
| PYCR1pyrroline-5-carboxylate reductase 1 | Zawsze | W 1 chorobie |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Zawsze | W 1 chorobie |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Zawsze | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Zawsze | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Zawsze | W 1 chorobie |
| RSPRY1ring finger and SPRY domain containing 1 | Zawsze | W 2 chorobach |
| RSRC1arginine and serine rich coiled-coil 1 | Zawsze | W 1 chorobie |
| RTN2reticulon 2 | Zawsze | W 1 chorobie |
| RUBCNrubicon autophagy regulator | Zawsze | W 1 chorobie |
| RYR1ryanodine receptor 1 | Zawsze | W 8 chorobach |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Zawsze | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Zawsze | W 3 chorobach |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Zawsze | W 1 chorobie |
| SELENOIselenoprotein I | Zawsze | W 1 chorobie |
| SERPINF1serpin family F member 1 | Zawsze | W 1 chorobie |
| SLC12A6solute carrier family 12 member 6 | Zawsze | W 2 chorobach |
| SLC25A42solute carrier family 25 member 42 | Zawsze | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Zawsze | W 1 chorobie |
| SLC5A7solute carrier family 5 member 7 | Zawsze | W 1 chorobie |
| SLC9A1solute carrier family 9 member A1 | Zawsze | W 1 chorobie |
| SOX5SRY-box transcription factor 5 | Zawsze | W 1 chorobie |
| SP7Sp7 transcription factor | Zawsze | W 1 chorobie |
| SPARTspartin | Zawsze | W 2 chorobach |
| SPEGstriated muscle enriched protein kinase | Zawsze | W 2 chorobach |
| SPOPspeckle type BTB/POZ protein | Zawsze | W 2 chorobach |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Zawsze | W 2 chorobach |
| SPTBN2spectrin beta, non-erythrocytic 2 | Zawsze | W 1 chorobie |
| SPTBN4spectrin beta, non-erythrocytic 4 | Zawsze | W 1 chorobie |
| SRD5A3steroid 5 alpha-reductase 3 | Zawsze | W 2 chorobach |
| STAC3SH3 and cysteine rich domain 3 | Zawsze | W 2 chorobach |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Zawsze | W 1 chorobie |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Zawsze | W 1 chorobie |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Zawsze | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Zawsze | W 1 chorobie |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Zawsze | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Zawsze | W 1 chorobie |
| TBK1TANK binding kinase 1 | Zawsze | W 1 chorobie |
| TCF20transcription factor 20 | Zawsze | W 1 chorobie |
| THG1LtRNA-histidine guanylyltransferase 1 like | Zawsze | W 1 chorobie |
| TLK2tousled like kinase 2 | Zawsze | W 1 chorobie |
| TMEM107transmembrane protein 107 | Zawsze | W 1 chorobie |
| TMEM147transmembrane protein 147 | Zawsze | W 1 chorobie |
| TMEM222transmembrane protein 222 | Zawsze | W 1 chorobie |
| TNRtenascin R | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| TPM2tropomyosin 2 | Zawsze | W 4 chorobach |
| TRIOtrio Rho guanine nucleotide exchange factor | Zawsze | W 1 chorobie |
| TRIP4thyroid hormone receptor interactor 4 | Zawsze | W 2 chorobach |
| TTNtitin | Zawsze | W 2 chorobach |
| TUBA4Atubulin alpha 4a | Zawsze | W 1 chorobie |
| TUBB2Btubulin beta 2B class IIb | Zawsze | W 1 chorobie |
| UBA2ubiquitin like modifier activating enzyme 2 | Zawsze | W 1 chorobie |
| UBAP2Lubiquitin associated protein 2 like | Zawsze | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Zawsze | W 1 chorobie |
| UBE3Bubiquitin protein ligase E3B | Zawsze | W 1 chorobie |
| UBE3Cubiquitin protein ligase E3C | Zawsze | W 1 chorobie |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 2 chorobach |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Zawsze | W 1 chorobie |
| VAMP1vesicle associated membrane protein 1 | Zawsze | W 1 chorobie |
| VARS1valyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Zawsze | W 1 chorobie |
| VPS4Avacuolar protein sorting 4 homolog A | Zawsze | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Zawsze | W 3 chorobach |
| WBP4WW domain binding protein 4 | Zawsze | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Zawsze | W 1 chorobie |
| YME1L1YME1 like 1 ATPase | Zawsze | W 1 chorobie |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Zawsze | W 1 chorobie |
| YY1YY1 transcription factor | Zawsze | W 1 chorobie |
| ZMYND11zinc finger MYND-type containing 11 | Zawsze | W 1 chorobie |
| ZSCAN10zinc finger and SCAN domain containing 10 | Zawsze | W 1 chorobie |
| ZSWIM6zinc finger SWIM-type containing 6 | Zawsze | W 1 chorobie |
| ADGRG1adhesion G protein-coupled receptor G1 | Bardzo często (80–99%) | W 1 chorobie |
| AGO1argonaute RISC component 1 | Bardzo często (80–99%) | W 1 chorobie |
| ARPC4actin related protein 2/3 complex subunit 4 | Bardzo często (80–99%) | W 1 chorobie |
| ASPAaspartoacylase | Bardzo często (80–99%) | W 2 chorobach |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Bardzo często (80–99%) | W 2 chorobach |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Bardzo często (80–99%) | W 1 chorobie |
| BCL11BBCL11 transcription factor B | Bardzo często (80–99%) | W 1 chorobie |
| BPTFbromodomain PHD finger transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Bardzo często (80–99%) | W 1 chorobie |
| CILK1ciliogenesis associated kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| COG4component of oligomeric golgi complex 4 | Bardzo często (80–99%) | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Bardzo często (80–99%) | W 2 chorobach |
| COL1A2collagen type I alpha 2 chain | Bardzo często (80–99%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Bardzo często (80–99%) | W 2 chorobach |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Bardzo często (80–99%) | W 2 chorobach |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Bardzo często (80–99%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Bardzo często (80–99%) | W 3 chorobach |
| DMDdystrophin | Bardzo często (80–99%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| EXOSC3exosome component 3 | Bardzo często (80–99%) | W 1 chorobie |
| EXOSC8exosome component 8 | Bardzo często (80–99%) | W 1 chorobie |
| EXOSC9exosome component 9 | Bardzo często (80–99%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Bardzo często (80–99%) | W 2 chorobach |
| FBXW11F-box and WD repeat domain containing 11 | Bardzo często (80–99%) | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Bardzo często (80–99%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Bardzo często (80–99%) | W 1 chorobie |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Bardzo często (80–99%) | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Bardzo często (80–99%) | W 1 chorobie |
| INPP5Kinositol polyphosphate-5-phosphatase K | Bardzo często (80–99%) | W 1 chorobie |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Bardzo często (80–99%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Bardzo często (80–99%) | W 1 chorobie |
| KDM3Blysine demethylase 3B | Bardzo często (80–99%) | W 1 chorobie |
| KDM6Blysine demethylase 6B | Bardzo często (80–99%) | W 1 chorobie |
| LMBRD2LMBR1 domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Bardzo często (80–99%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Bardzo często (80–99%) | W 1 chorobie |
| LTBP4latent transforming growth factor beta binding protein 4 | Bardzo często (80–99%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Bardzo często (80–99%) | W 2 chorobach |
| MED13Lmediator complex subunit 13L | Bardzo często (80–99%) | W 2 chorobach |
| MED27mediator complex subunit 27 | Bardzo często (80–99%) | W 1 chorobie |
| MEG3maternally expressed 3 | Bardzo często (80–99%) | W 3 chorobach |
| MKRN3makorin ring finger protein 3 | Bardzo często (80–99%) | W 1 chorobie |
| MN1MN1 proto-oncogene, transcriptional regulator | Bardzo często (80–99%) | W 1 chorobie |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Bardzo często (80–99%) | W 1 chorobie |
| NPAP1nuclear pore associated protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| PPFIBP1PPFIB scaffold protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| 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 |
| QRICH1glutamine rich 1 | Bardzo często (80–99%) | W 1 chorobie |
| RFX7regulatory factor X7 | Bardzo często (80–99%) | W 1 chorobie |
| RMP64ribonuclease MRP subunit p64 | Bardzo często (80–99%) | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Bardzo często (80–99%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Bardzo często (80–99%) | W 3 chorobach |
| SATB1SATB homeobox 1 | Bardzo często (80–99%) | W 2 chorobach |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Bardzo często (80–99%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| SH3PXD2BSH3 and PX domains 2B | Bardzo często (80–99%) | W 1 chorobie |
| SIAH1siah E3 ubiquitin protein ligase 1 | Bardzo często (80–99%) | W 1 chorobie |
| SIM1SIM bHLH transcription factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Bardzo często (80–99%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Bardzo często (80–99%) | W 1 chorobie |
| SLC6A11solute carrier family 6 member 11 | 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 |
| SNUPNsnurportin 1 | Bardzo często (80–99%) | W 1 chorobie |
| SPG21SPG21 abhydrolase domain containing, maspardin | Bardzo często (80–99%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Bardzo często (80–99%) | W 1 chorobie |
| SRPK3SRSF protein kinase 3 | Bardzo często (80–99%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| SYT1synaptotagmin 1 | Bardzo często (80–99%) | W 1 chorobie |
| TBCBtubulin folding cofactor B | Bardzo często (80–99%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Bardzo często (80–99%) | W 1 chorobie |
| TMEM94transmembrane protein 94 | Bardzo często (80–99%) | W 1 chorobie |
| TRIP12thyroid hormone receptor interactor 12 | Bardzo często (80–99%) | W 1 chorobie |
| VPS41VPS41 subunit of HOPS complex | Bardzo często (80–99%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Bardzo często (80–99%) | W 2 chorobach |
| WDR73WD repeat domain 73 | Bardzo często (80–99%) | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Bardzo często (80–99%) | W 1 chorobie |
| ZBTB24zinc finger and BTB domain containing 24 | Bardzo często (80–99%) | W 1 chorobie |
| ZBTB7Azinc finger and BTB domain containing 7A | Bardzo często (80–99%) | W 1 chorobie |
| ZNF592zinc finger protein 592 | Bardzo często (80–99%) | W 1 chorobie |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Często (30–79%) | W 6 chorobach |
| ADA2adenosine deaminase 2 | Często (30–79%) | W 1 chorobie |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Często (30–79%) | W 2 chorobach |
| ADCY5adenylate cyclase 5 | Często (30–79%) | W 2 chorobach |
| AEBP1AE binding protein 1 | Często (30–79%) | W 2 chorobach |
| AGKacylglycerol kinase | Często (30–79%) | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Często (30–79%) | W 2 chorobach |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Często (30–79%) | W 1 chorobie |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Często (30–79%) | W 1 chorobie |
| ALPK3alpha kinase 3 | Często (30–79%) | W 1 chorobie |
| ANKRD17ankyrin repeat domain 17 | Często (30–79%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Często (30–79%) | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Często (30–79%) | W 1 chorobie |
| ATP5F1DATP synthase F1 subunit delta | Często (30–79%) | W 1 chorobie |
| ATP5F1EATP synthase F1 subunit epsilon | Często (30–79%) | W 1 chorobie |
| ATP5MKATP synthase membrane subunit k | Często (30–79%) | W 1 chorobie |
| ATP5POATP synthase peripheral stalk subunit OSCP | Często (30–79%) | W 1 chorobie |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Często (30–79%) | W 2 chorobach |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Często (30–79%) | W 1 chorobie |
| ATRXATRX chromatin remodeler | Często (30–79%) | W 1 chorobie |
| ATXN7ataxin 7 | Często (30–79%) | W 1 chorobie |
| ATXN7L3ataxin 7 like 3 | Często (30–79%) | W 1 chorobie |
| AXIN1axin 1 | Często (30–79%) | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Często (30–79%) | W 2 chorobach |
| B4GALT7beta-1,4-galactosyltransferase 7 | Często (30–79%) | W 1 chorobie |
| BAP1BRCA1 associated deubiquitinase 1 | Często (30–79%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Często (30–79%) | W 3 chorobach |
| BIN1bridging integrator 1 | Często (30–79%) | W 2 chorobach |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| BSNDbarttin CLCNK type accessory subunit beta | Często (30–79%) | W 2 chorobach |
| CACHD1cache domain containing 1 | Często (30–79%) | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Często (30–79%) | W 1 chorobie |
| CCDC78coiled-coil domain containing 78 | Często (30–79%) | W 1 chorobie |
| CDCA7cell division cycle associated 7 | Często (30–79%) | W 1 chorobie |
| CDH23cadherin related 23 | Często (30–79%) | W 1 chorobie |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Często (30–79%) | W 1 chorobie |
| CFAP20cilia and flagella associated protein 20 | Często (30–79%) | W 1 chorobie |
| CHD5chromodomain helicase DNA binding protein 5 | Często (30–79%) | W 1 chorobie |
| CLCNKAchloride voltage-gated channel Ka | Często (30–79%) | W 2 chorobach |
| CLCNKBchloride voltage-gated channel Kb | Często (30–79%) | W 2 chorobach |
| CNTNAP2contactin associated protein 2 | Często (30–79%) | W 1 chorobie |
| COA8cytochrome c oxidase assembly factor 8 | Często (30–79%) | W 1 chorobie |
| COG3component of oligomeric golgi complex 3 | Często (30–79%) | W 1 chorobie |
| COL13A1collagen type XIII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL6A3collagen type VI alpha 3 chain | Często (30–79%) | W 1 chorobie |
| COQ4coenzyme Q4 | Często (30–79%) | W 1 chorobie |
| COXFA4cytochrome c oxidase associated subunit FA4 | Często (30–79%) | W 1 chorobie |
| CPSF3cleavage and polyadenylation specific factor 3 | Często (30–79%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Często (30–79%) | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Często (30–79%) | W 1 chorobie |
| CUX1cut like homeobox 1 | Często (30–79%) | W 1 chorobie |
| DAG1dystroglycan 1 | Często (30–79%) | W 1 chorobie |
| DARS1aspartyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| DDCdopa decarboxylase | Często (30–79%) | W 1 chorobie |
| DDR2discoidin domain receptor tyrosine kinase 2 | Często (30–79%) | W 1 chorobie |
| DLATdihydrolipoamide S-acetyltransferase | Często (30–79%) | W 1 chorobie |
| DONSONDNA replication fork stabilization factor DONSON | Często (30–79%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Często (30–79%) | W 2 chorobach |
| DPF2double PHD fingers 2 | Często (30–79%) | W 1 chorobie |
| DYMdymeclin | Często (30–79%) | W 1 chorobie |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Często (30–79%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Często (30–79%) | W 1 chorobie |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Często (30–79%) | W 1 chorobie |
| ERFETS2 repressor factor | Często (30–79%) | W 1 chorobie |
| ESPNespin | Często (30–79%) | W 1 chorobie |
| FBLN1fibulin 1 | Często (30–79%) | W 1 chorobie |
| FBLN5fibulin 5 | Często (30–79%) | W 2 chorobach |
| FILIP1filamin A interacting protein 1 | Często (30–79%) | W 1 chorobie |
| FKRPfukutin related protein | Często (30–79%) | W 5 chorobach |
| FRA10AC1FRA10A associated CGG repeat 1 | Często (30–79%) | W 1 chorobie |
| GAAalpha glucosidase | Często (30–79%) | W 1 chorobie |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Często (30–79%) | W 1 chorobie |
| GALCgalactosylceramidase | Często (30–79%) | W 1 chorobie |
| GCKglucokinase | Często (30–79%) | W 1 chorobie |
| GDAP1ganglioside induced differentiation associated protein 1 | Często (30–79%) | W 4 chorobach |
| GHRgrowth hormone receptor | Często (30–79%) | W 1 chorobie |
| GJB1gap junction protein beta 1 | Często (30–79%) | W 2 chorobach |
| GMNNgeminin DNA replication inhibitor | Często (30–79%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Często (30–79%) | W 4 chorobach |
| GNB5G protein subunit beta 5 | Często (30–79%) | W 1 chorobie |
| GPC3glypican 3 | Często (30–79%) | W 1 chorobie |
| GPRC5BG protein-coupled receptor class C group 5 member B | Często (30–79%) | W 1 chorobie |
| GPSM2G protein signaling modulator 2 | Często (30–79%) | W 1 chorobie |
| GRB10growth factor receptor bound protein 10 | Często (30–79%) | W 1 chorobie |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Często (30–79%) | W 1 chorobie |
| HELLShelicase, lymphoid specific | Często (30–79%) | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Często (30–79%) | W 4 chorobach |
| HMGA2high mobility group AT-hook 2 | Często (30–79%) | W 1 chorobie |
| IGF1Rinsulin like growth factor 1 receptor | Często (30–79%) | W 2 chorobach |
| IGF2insulin like growth factor 2 | Często (30–79%) | W 4 chorobach |
| IL6STinterleukin 6 cytokine family signal transducer | Często (30–79%) | W 1 chorobie |
| INPPL1inositol polyphosphate phosphatase like 1 | Często (30–79%) | W 1 chorobie |
| INSinsulin | Często (30–79%) | W 1 chorobie |
| KBTBD13kelch repeat and BTB domain containing 13 | Często (30–79%) | W 1 chorobie |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Często (30–79%) | W 2 chorobach |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Często (30–79%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 1 chorobie |
| KLHL40kelch like family member 40 | Często (30–79%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Często (30–79%) | W 4 chorobach |
| KMT2Blysine methyltransferase 2B | Często (30–79%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 1 chorobie |
| KPTNkaptin, actin binding protein | Często (30–79%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Często (30–79%) | W 1 chorobie |
| LAMB2laminin subunit beta 2 | Często (30–79%) | W 2 chorobach |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Często (30–79%) | W 2 chorobach |
| LMOD3leiomodin 3 | Często (30–79%) | W 1 chorobie |
| LTBP1latent transforming growth factor beta binding protein 1 | Często (30–79%) | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | 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 |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Często (30–79%) | W 2 chorobach |
| MARK2microtubule affinity regulating kinase 2 | Często (30–79%) | W 1 chorobie |
| MCM3APminichromosome maintenance complex component 3 associated protein | Często (30–79%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Często (30–79%) | W 1 chorobie |
| MED12Lmediator complex subunit 12L | Często (30–79%) | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Często (30–79%) | W 1 chorobie |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Często (30–79%) | W 2 chorobach |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 1 chorobie |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Często (30–79%) | W 1 chorobie |
| MTPAPmitochondrial poly(A) polymerase | Często (30–79%) | W 1 chorobie |
| MYL2myosin light chain 2 | Często (30–79%) | W 1 chorobie |
| MYO18Bmyosin XVIIIB | Często (30–79%) | W 1 chorobie |
| MYO7Amyosin VIIA | Często (30–79%) | W 2 chorobach |
| MYPNmyopalladin | Często (30–79%) | W 2 chorobach |
| MYT1Lmyelin transcription factor 1 like | Często (30–79%) | W 1 chorobie |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Często (30–79%) | W 1 chorobie |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Często (30–79%) | W 1 chorobie |
| NEBnebulin | Często (30–79%) | W 4 chorobach |
| NEFLneurofilament light chain | Często (30–79%) | W 5 chorobach |
| NFIBnuclear factor I B | Często (30–79%) | W 1 chorobie |
| NFIXnuclear factor I X | Często (30–79%) | W 3 chorobach |
| NIPA1NIPA magnesium transporter 1 | Często (30–79%) | W 1 chorobie |
| NIPA2NIPA magnesium transporter 2 | Często (30–79%) | W 1 chorobie |
| NKX2-5NK2 homeobox 5 | Często (30–79%) | W 1 chorobie |
| NKX3-2NK3 homeobox 2 | Często (30–79%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Często (30–79%) | W 2 chorobach |
| NRASNRAS proto-oncogene, GTPase | Często (30–79%) | W 1 chorobie |
| NRCAMneuronal cell adhesion molecule | Często (30–79%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Często (30–79%) | W 2 chorobach |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Często (30–79%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Często (30–79%) | W 1 chorobie |
| OGDHoxoglutarate dehydrogenase | Często (30–79%) | W 1 chorobie |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Często (30–79%) | W 1 chorobie |
| PCDH15protocadherin related 15 | Często (30–79%) | W 2 chorobach |
| PCDH19protocadherin 19 | Często (30–79%) | W 1 chorobie |
| PDE10Aphosphodiesterase 10A | Często (30–79%) | W 2 chorobach |
| PDX1pancreatic and duodenal homeobox 1 | Często (30–79%) | W 1 chorobie |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Często (30–79%) | W 1 chorobie |
| PLAG1PLAG1 zinc finger | Często (30–79%) | W 1 chorobie |
| PLECplectin | Często (30–79%) | W 2 chorobach |
| PLPBPpyridoxal phosphate binding protein | Często (30–79%) | W 1 chorobie |
| PLXND1plexin D1 | Często (30–79%) | W 1 chorobie |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 1 chorobie |
| POLD3DNA polymerase delta 3, accessory subunit | Często (30–79%) | W 1 chorobie |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Często (30–79%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Często (30–79%) | W 3 chorobach |
| POMT2protein O-mannosyltransferase 2 | Często (30–79%) | W 3 chorobach |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Często (30–79%) | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Często (30–79%) | W 3 chorobach |
| PSMC3proteasome 26S subunit, ATPase 3 | Często (30–79%) | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Często (30–79%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Często (30–79%) | W 2 chorobach |
| PURApurine rich element binding protein A | Często (30–79%) | W 1 chorobie |
| PUS7pseudouridine synthase 7 | Często (30–79%) | W 1 chorobie |
| RAC1Rac family small GTPase 1 | Często (30–79%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 1 chorobie |
| RAP1BRAP1B, member of RAS oncogene family | Często (30–79%) | W 1 chorobie |
| REPS1RALBP1 associated Eps domain containing 1 | Często (30–79%) | W 1 chorobie |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Często (30–79%) | W 1 chorobie |
| RNF170ring finger protein 170 | Często (30–79%) | W 1 chorobie |
| RNF220ring finger protein 220 | Często (30–79%) | W 1 chorobie |
| RPS23ribosomal protein S23 | Często (30–79%) | W 1 chorobie |
| RUSC2RUN and SH3 domain containing 2 | Często (30–79%) | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Często (30–79%) | W 2 chorobach |
| SCYL1SCY1 like pseudokinase 1 | Często (30–79%) | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Często (30–79%) | W 1 chorobie |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Często (30–79%) | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Często (30–79%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Często (30–79%) | W 1 chorobie |
| SELENONselenoprotein N | Często (30–79%) | W 2 chorobach |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Często (30–79%) | W 1 chorobie |
| SH2B1SH2B adaptor protein 1 | Często (30–79%) | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Często (30–79%) | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Często (30–79%) | W 1 chorobie |
| SLC25A15solute carrier family 25 member 15 | Często (30–79%) | W 1 chorobie |
| SLC37A4solute carrier family 37 member 4 | Często (30–79%) | W 1 chorobie |
| SLC39A13solute carrier family 39 member 13 | Często (30–79%) | W 1 chorobie |
| SMC5structural maintenance of chromosomes 5 | Często (30–79%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Często (30–79%) | W 1 chorobie |
| SPRsepiapterin reductase | Często (30–79%) | W 1 chorobie |
| SRSF1serine and arginine rich splicing factor 1 | Często (30–79%) | W 1 chorobie |
| STAT3signal transducer and activator of transcription 3 | Często (30–79%) | W 1 chorobie |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Często (30–79%) | W 1 chorobie |
| SVBPsmall vasohibin binding protein | Często (30–79%) | W 1 chorobie |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Często (30–79%) | W 1 chorobie |
| TAOK1TAO kinase 1 | Często (30–79%) | W 1 chorobie |
| THtyrosine hydroxylase | Często (30–79%) | W 2 chorobach |
| TNNC2troponin C2, fast skeletal type | Często (30–79%) | W 1 chorobie |
| TNNT1troponin T1, slow skeletal type | Często (30–79%) | W 2 chorobach |
| TPM3tropomyosin 3 | Często (30–79%) | W 5 chorobach |
| TRAF7TNF receptor associated factor 7 | Często (30–79%) | W 1 chorobie |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Często (30–79%) | W 1 chorobie |
| TSEN15tRNA splicing endonuclease subunit 15 | Często (30–79%) | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Często (30–79%) | W 1 chorobie |
| TSEN34tRNA splicing endonuclease subunit 34 | Często (30–79%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Często (30–79%) | W 1 chorobie |
| TSHBthyroid stimulating hormone subunit beta | Często (30–79%) | W 1 chorobie |
| TSHRthyroid stimulating hormone receptor | Często (30–79%) | W 3 chorobach |
| TSPOAP1TSPO associated protein 1 | Często (30–79%) | W 1 chorobie |
| TUBB4Atubulin beta 4A class IVa | Często (30–79%) | W 1 chorobie |
| TUBG1tubulin gamma 1 | Często (30–79%) | W 1 chorobie |
| USH1CUSH1 protein network component harmonin | Często (30–79%) | W 2 chorobach |
| USH1GUSH1 protein network component sans | Często (30–79%) | W 1 chorobie |
| YARS2tyrosyl-tRNA synthetase 2 | Często (30–79%) | W 1 chorobie |
| ZMIZ1zinc finger MIZ-type containing 1 | Często (30–79%) | W 1 chorobie |
| ZMYM3zinc finger MYM-type containing 3 | Często (30–79%) | W 1 chorobie |
| ZNF462zinc finger protein 462 | Często (30–79%) | W 1 chorobie |
| ZNF711ZFX family zinc finger ZNF711 | Często (30–79%) | W 1 chorobie |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Często (30–79%) | W 1 chorobie |
| ABCA12ATP binding cassette subfamily A member 12 | Czasami (5–29%) | W 1 chorobie |
| ACAT1acetyl-CoA acetyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| ACP5acid phosphatase 5, tartrate resistant | Czasami (5–29%) | W 1 chorobie |
| ADAMTSL2ADAMTS like 2 | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Czasami (5–29%) | W 1 chorobie |
| AIPL1AIP like 1 HSP90 co-chaperone | Czasami (5–29%) | W 1 chorobie |
| ALDOAaldolase, fructose-bisphosphate A | Czasami (5–29%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Czasami (5–29%) | W 1 chorobie |
| ASLargininosuccinate lyase | Czasami (5–29%) | W 1 chorobie |
| ATL1atlastin GTPase 1 | Czasami (5–29%) | W 2 chorobach |
| BMPR1Abone morphogenetic protein receptor type 1A | Czasami (5–29%) | W 1 chorobie |
| CABP4calcium binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Czasami (5–29%) | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Czasami (5–29%) | W 2 chorobach |
| COL5A1collagen type V alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COL5A2collagen type V alpha 2 chain | Czasami (5–29%) | W 1 chorobie |
| CRB1crumbs cell polarity complex component 1 | Czasami (5–29%) | W 1 chorobie |
| CRXcone-rod homeobox | Czasami (5–29%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 2 chorobach |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Czasami (5–29%) | W 1 chorobie |
| DOLKdolichol kinase | Czasami (5–29%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| ELNelastin | Czasami (5–29%) | W 1 chorobie |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| FLGfilaggrin | Czasami (5–29%) | W 1 chorobie |
| FZD4frizzled class receptor 4 | Czasami (5–29%) | W 1 chorobie |
| GALK1galactokinase 1 | Czasami (5–29%) | W 1 chorobie |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Czasami (5–29%) | W 1 chorobie |
| GDF6growth differentiation factor 6 | Czasami (5–29%) | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GRM1glutamate metabotropic receptor 1 | Czasami (5–29%) | W 1 chorobie |
| GUCY2Dguanylate cyclase 2D, retinal | Czasami (5–29%) | W 1 chorobie |
| H19H19 imprinted maternally expressed transcript | Czasami (5–29%) | W 2 chorobach |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HADHhydroxyacyl-CoA dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Czasami (5–29%) | W 1 chorobie |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Czasami (5–29%) | W 1 chorobie |
| HNMThistamine N-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Czasami (5–29%) | W 1 chorobie |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Czasami (5–29%) | W 1 chorobie |
| IFT140intraflagellar transport 140 | Czasami (5–29%) | W 1 chorobie |
| IMPDH1inosine monophosphate dehydrogenase 1 | Czasami (5–29%) | W 1 chorobie |
| IQCB1IQ motif containing B1 | Czasami (5–29%) | W 1 chorobie |
| IVDisovaleryl-CoA dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Czasami (5–29%) | W 1 chorobie |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Czasami (5–29%) | W 1 chorobie |
| KMT2Clysine methyltransferase 2C | Czasami (5–29%) | W 1 chorobie |
| LAMP2lysosome associated membrane protein 2 | Czasami (5–29%) | W 1 chorobie |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| LCA5lebercilin LCA5 | Czasami (5–29%) | W 1 chorobie |
| LRATlecithin retinol acyltransferase | Czasami (5–29%) | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Czasami (5–29%) | W 1 chorobie |
| MAOAmonoamine oxidase A | Czasami (5–29%) | W 1 chorobie |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Czasami (5–29%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Czasami (5–29%) | W 1 chorobie |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Czasami (5–29%) | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Czasami (5–29%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Czasami (5–29%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Czasami (5–29%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Czasami (5–29%) | W 1 chorobie |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Czasami (5–29%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Czasami (5–29%) | W 1 chorobie |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Czasami (5–29%) | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Czasami (5–29%) | W 2 chorobach |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Czasami (5–29%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Czasami (5–29%) | W 1 chorobie |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Czasami (5–29%) | W 1 chorobie |
| NEU1neuraminidase 1 | Czasami (5–29%) | W 1 chorobie |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| ORC6origin recognition complex subunit 6 | Czasami (5–29%) | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Czasami (5–29%) | W 1 chorobie |
| PDK3pyruvate dehydrogenase kinase 3 | Czasami (5–29%) | W 1 chorobie |
| PGM1phosphoglucomutase 1 | Czasami (5–29%) | W 1 chorobie |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| POLR1DRNA polymerase I and III subunit D | Czasami (5–29%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Czasami (5–29%) | W 2 chorobach |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Czasami (5–29%) | W 2 chorobach |
| PRPH2peripherin 2 | Czasami (5–29%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 1 chorobie |
| PYGLglycogen phosphorylase L | Czasami (5–29%) | W 1 chorobie |
| RARS1arginyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| RCC1regulator of chromosome condensation 1 | Czasami (5–29%) | W 1 chorobie |
| RD3RD3 regulator of GUCY2D | Czasami (5–29%) | W 1 chorobie |
| RDH12retinol dehydrogenase 12 | Czasami (5–29%) | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Czasami (5–29%) | W 1 chorobie |
| RNF125ring finger protein 125 | Czasami (5–29%) | W 1 chorobie |
| RPE65retinoid isomerohydrolase RPE65 | Czasami (5–29%) | W 1 chorobie |
| RPGRIP1RPGR interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| RPS6KA3ribosomal protein S6 kinase A3 | Czasami (5–29%) | W 1 chorobie |
| RRAS2RAS related 2 | Czasami (5–29%) | W 1 chorobie |
| SARDHsarcosine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SBF2SET binding factor 2 | Czasami (5–29%) | W 1 chorobie |
| SLC12A2solute carrier family 12 member 2 | Czasami (5–29%) | W 1 chorobie |
| SPATA7spermatogenesis associated 7 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| STSsteroid sulfatase | Czasami (5–29%) | W 1 chorobie |
| SYT2synaptotagmin 2 | Czasami (5–29%) | W 1 chorobie |
| TMEM38Btransmembrane protein 38B | Czasami (5–29%) | W 1 chorobie |
| TNFRSF11BTNF receptor superfamily member 11b | Czasami (5–29%) | W 1 chorobie |
| TNPO3transportin 3 | Czasami (5–29%) | W 1 chorobie |
| TRMT1tRNA methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| TSPAN12tetraspanin 12 | Czasami (5–29%) | W 1 chorobie |
| TUBB4Btubulin beta 4B class IVb | Czasami (5–29%) | W 1 chorobie |
| TULP1TUB like protein 1 | Czasami (5–29%) | W 1 chorobie |
| UPB1beta-ureidopropionase 1 | Czasami (5–29%) | W 1 chorobie |
| USP45ubiquitin specific peptidase 45 | Czasami (5–29%) | W 1 chorobie |
| VMA21vacuolar ATPase assembly factor VMA21 | Czasami (5–29%) | W 1 chorobie |
| VPS13Dvacuolar protein sorting 13 homolog D | Czasami (5–29%) | W 1 chorobie |
| WDR62WD repeat domain 62 | Czasami (5–29%) | W 1 chorobie |
| ZIC1Zic family zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| ZIC4Zic family zinc finger 4 | Czasami (5–29%) | W 1 chorobie |
| ZNF408zinc finger protein 408 | Czasami (5–29%) | W 1 chorobie |
| ANTXR1ANTXR cell adhesion molecule 1 | Rzadko (1–4%) | W 1 chorobie |
| COL3A1collagen type III alpha 1 chain | Rzadko (1–4%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Rzadko (1–4%) | W 2 chorobach |
| MYRFmyelin regulatory factor | Rzadko (1–4%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Rzadko (1–4%) | W 1 chorobie |
| SGMS2sphingomyelin synthase 2 | Rzadko (1–4%) | W 1 chorobie |
| SPRED1sprouty related EVH1 domain containing 1 | Rzadko (1–4%) | W 1 chorobie |
| AHCYadenosylhomocysteinase | Nie odnotowano | W 1 chorobie |
| AHI1Abelson helper integration site 1 | Nie odnotowano | W 1 chorobie |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Nie odnotowano | W 1 chorobie |
| ANAPC7anaphase promoting complex subunit 7 | Nie odnotowano | W 1 chorobie |
| APTXaprataxin | Nie odnotowano | W 1 chorobie |
| ARCN1archain 1 coat protein complex I subunit delta | Nie odnotowano | W 1 chorobie |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Nie odnotowano | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Nie odnotowano | W 1 chorobie |
| ASAH1N-acylsphingosine amidohydrolase 1 | Nie odnotowano | W 1 chorobie |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Nie odnotowano | W 1 chorobie |
| CANT1calcium activated nucleotidase 1 | Nie odnotowano | W 1 chorobie |
| CDK8cyclin dependent kinase 8 | Nie odnotowano | W 1 chorobie |
| CHKBcholine kinase beta | Nie odnotowano | W 1 chorobie |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Nie odnotowano | W 1 chorobie |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Nie odnotowano | W 1 chorobie |
| CHST14carbohydrate sulfotransferase 14 | Nie odnotowano | W 1 chorobie |
| CNOT2CCR4-NOT transcription complex subunit 2 | Nie odnotowano | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Nie odnotowano | W 1 chorobie |
| COQ7coenzyme Q7, hydroxylase | Nie odnotowano | W 1 chorobie |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Nie odnotowano | W 1 chorobie |
| COX15cytochrome c oxidase assembly factor COX15 | Nie odnotowano | W 1 chorobie |
| COX6B1cytochrome c oxidase subunit 6B1 | Nie odnotowano | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Nie odnotowano | W 1 chorobie |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Nie odnotowano | W 1 chorobie |
| DCXdoublecortin | Nie odnotowano | W 1 chorobie |
| DNM2dynamin 2 | Nie odnotowano | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Nie odnotowano | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nie odnotowano | W 1 chorobie |
| EXOSC2exosome component 2 | Nie odnotowano | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Nie odnotowano | W 1 chorobie |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Nie odnotowano | W 1 chorobie |
| FBN2fibrillin 2 | Nie odnotowano | W 1 chorobie |
| FDX2ferredoxin 2 | Nie odnotowano | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Nie odnotowano | W 1 chorobie |
| FLNAfilamin A | Nie odnotowano | W 1 chorobie |
| FOXG1forkhead box G1 | Nie odnotowano | W 1 chorobie |
| GFM1G elongation factor mitochondrial 1 | Nie odnotowano | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Nie odnotowano | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Nie odnotowano | W 1 chorobie |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Nie odnotowano | W 1 chorobie |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Nie odnotowano | W 1 chorobie |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Nie odnotowano | W 1 chorobie |
| KAT6Blysine acetyltransferase 6B | Nie odnotowano | W 1 chorobie |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Nie odnotowano | W 1 chorobie |
| KDM1Alysine demethylase 1A | Nie odnotowano | W 1 chorobie |
| KIF7kinesin family member 7 | Nie odnotowano | W 1 chorobie |
| KLC2kinesin light chain 2 | Nie odnotowano | W 1 chorobie |
| LAMA1laminin subunit alpha 1 | Nie odnotowano | W 1 chorobie |
| LMNAlamin A/C | Nie odnotowano | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nie odnotowano | W 1 chorobie |
| MED12mediator complex subunit 12 | Nie odnotowano | W 1 chorobie |
| MEGF10multiple EGF like domains 10 | Nie odnotowano | W 1 chorobie |
| MLC1modulator of VRAC current 1 | Nie odnotowano | W 1 chorobie |
| MMP13matrix metallopeptidase 13 | Nie odnotowano | W 1 chorobie |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Nie odnotowano | W 1 chorobie |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Nie odnotowano | W 1 chorobie |
| MTM1myotubularin 1 | Nie odnotowano | W 1 chorobie |
| MTMR14myotubularin related protein 14 | Nie odnotowano | W 1 chorobie |
| MTMR2myotubularin related protein 2 | Nie odnotowano | W 1 chorobie |
| MUSKmuscle associated receptor tyrosine kinase | Nie odnotowano | W 1 chorobie |
| MYL1myosin light chain 1 | Nie odnotowano | W 1 chorobie |
| MYO9Amyosin IXA | Nie odnotowano | W 1 chorobie |
| NANSN-acetylneuraminate synthase | Nie odnotowano | W 1 chorobie |
| NONOnon-POU domain containing octamer binding | Nie odnotowano | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nie odnotowano | W 1 chorobie |
| PAX7paired box 7 | Nie odnotowano | W 1 chorobie |
| PBX1PBX homeobox 1 | Nie odnotowano | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Nie odnotowano | W 1 chorobie |
| PNPpurine nucleoside phosphorylase | Nie odnotowano | W 1 chorobie |
| PREPLprolyl endopeptidase like | Nie odnotowano | W 1 chorobie |
| PTCH1patched 1 | Nie odnotowano | W 1 chorobie |
| PTPRQprotein tyrosine phosphatase receptor type Q | Nie odnotowano | W 1 chorobie |
| RBM8ARNA binding motif protein 8A | Nie odnotowano | W 1 chorobie |
| RIPK4receptor interacting serine/threonine kinase 4 | Nie odnotowano | W 1 chorobie |
| RORARAR related orphan receptor A | Nie odnotowano | W 1 chorobie |
| SAMD9sterile alpha motif domain containing 9 | Nie odnotowano | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nie odnotowano | W 1 chorobie |
| SCO1synthesis of cytochrome C oxidase 1 | Nie odnotowano | W 1 chorobie |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Nie odnotowano | W 1 chorobie |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nie odnotowano | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Nie odnotowano | W 1 chorobie |
| SLC25A1solute carrier family 25 member 1 | Nie odnotowano | W 1 chorobie |
| SLC6A8solute carrier family 6 member 8 | Nie odnotowano | W 1 chorobie |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Nie odnotowano | W 1 chorobie |
| SURF1SURF1 cytochrome c oxidase assembly factor | Nie odnotowano | W 1 chorobie |
| TACO1translational activator of cytochrome c oxidase I | Nie odnotowano | W 1 chorobie |
| TCF4transcription factor 4 | Nie odnotowano | W 1 chorobie |
| TENT5Aterminal nucleotidyltransferase 5A | Nie odnotowano | W 1 chorobie |
| TKFCtriokinase and FMN cyclase | Nie odnotowano | W 1 chorobie |
| TMCO1transmembrane and coiled-coil domains 1 | Nie odnotowano | W 1 chorobie |
| TNFRSF11ATNF receptor superfamily member 11a | Nie odnotowano | W 1 chorobie |
| TRIP11thyroid hormone receptor interactor 11 | Nie odnotowano | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Nie odnotowano | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Nie odnotowano | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Nie odnotowano | W 1 chorobie |
| TUBBtubulin beta class I | Nie odnotowano | W 1 chorobie |
| VDRvitamin D receptor | Nie odnotowano | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Nie odnotowano | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | 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.
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