Požymis
Loss of developmental milestones
Klinikinis pavadinimas: Developmental regression
Loss of developmental skills, as manifested by loss of developmental milestones.
Santrauka
- Taip pat vadinama
- Mental deterioration in childhood, Loss of acquired milestones, Loss of milestones, Neurodevelopmental regression, Psychomotor regression, Psychomotor regression beginning in infancy, Psychomotor regression in infants, Psychomotor regression, progressive
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Loss of developmental milestones, and the rest of your genome, with one test.
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Įsigyti savo Genome Test447 genų susiję su Loss of developmental milestones
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Loss of developmental milestones. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| ACER3alkaline ceramidase 3 | Visada | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Visada | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Visada | 3 ligose |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Visada | 2 ligose |
| ARV1ARV1 fatty acid homeostasis modulator | Visada | 1 ligoje |
| ATP11AATPase phospholipid transporting 11A | Visada | 1 ligoje |
| ATP5MKATP synthase membrane subunit k | Visada | 1 ligoje |
| ATP6V0CATPase H+ transporting V0 subunit c | Visada | 1 ligoje |
| ATP7AATPase copper transporting alpha | Visada | 2 ligose |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Visada | 1 ligoje |
| CAMLGcalcium modulating ligand | Visada | 1 ligoje |
| CASP2caspase 2 | Visada | 1 ligoje |
| CCT3chaperonin containing TCP1 subunit 3 | Visada | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Visada | 2 ligose |
| CLN8CLN8 transmembrane ER and ERGIC protein | Visada | 1 ligoje |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Visada | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Visada | 1 ligoje |
| COX4I1cytochrome c oxidase subunit 4I1 | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 1 ligoje |
| CRLS1cardiolipin synthase 1 | Visada | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Visada | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Visada | 1 ligoje |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Visada | 1 ligoje |
| FGF12fibroblast growth factor 12 | Visada | 2 ligose |
| FUCA1alpha-L-fucosidase 1 | Visada | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Visada | 3 ligose |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Visada | 1 ligoje |
| HEPHL1hephaestin like 1 | Visada | 1 ligoje |
| HEXBhexosaminidase subunit beta | Visada | 2 ligose |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Visada | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Visada | 1 ligoje |
| HTThuntingtin | Visada | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Visada | 2 ligose |
| KARS1lysyl-tRNA synthetase 1 | Visada | 2 ligose |
| KCTD7potassium channel tetramerization domain containing 7 | Visada | 2 ligose |
| LIPT1lipoyltransferase 1 | Visada | 1 ligoje |
| LNPKlunapark, ER junction formation factor | Visada | 1 ligoje |
Rodyti dar 407 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MECP2methyl-CpG binding protein 2 | Visada | 4 ligose |
| MFFmitochondrial fission factor | Visada | 2 ligose |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Visada | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Visada | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Visada | 2 ligose |
| NALCNsodium leak channel, non-selective | Visada | 1 ligoje |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Visada | 1 ligoje |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Visada | 1 ligoje |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Visada | 1 ligoje |
| PET117PET117 cytochrome c oxidase chaperone | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 4 ligose |
| PLCB1phospholipase C beta 1 | Visada | 3 ligose |
| PMPCBpeptidase, mitochondrial processing subunit beta | Visada | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Visada | 2 ligose |
| POLR3BRNA polymerase III subunit B | Visada | 1 ligoje |
| PSAPprosaposin | Visada | 5 ligose |
| PTCD3pentatricopeptide repeat domain 3 | Visada | 1 ligoje |
| REEP1receptor accessory protein 1 | Visada | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 2 ligose |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Visada | 2 ligose |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Visada | 2 ligose |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Visada | 2 ligose |
| SDHDsuccinate dehydrogenase complex subunit D | Visada | 2 ligose |
| SERAC1serine active site containing 1 | Visada | 2 ligose |
| SLC19A3solute carrier family 19 member 3 | Visada | 1 ligoje |
| SLC30A9solute carrier family 30 member 9 | Visada | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Visada | 3 ligose |
| SMPD1sphingomyelin phosphodiesterase 1 | Visada | 1 ligoje |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Visada | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Visada | 1 ligoje |
| SV2Asynaptic vesicle glycoprotein 2A | Visada | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Visada | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Visada | 2 ligose |
| TBC1D24TBC1 domain family member 24 | Visada | 4 ligose |
| TRAPPC12trafficking protein particle complex subunit 12 | Visada | 2 ligose |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Visada | 1 ligoje |
| TUBB4Atubulin beta 4A class IVa | Visada | 1 ligoje |
| UBTFupstream binding transcription factor | Visada | 2 ligose |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| ZBTB18zinc finger and BTB domain containing 18 | Visada | 1 ligoje |
| ARXaristaless related homeobox | Labai dažnai (80–99%) | 2 ligose |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Labai dažnai (80–99%) | 2 ligose |
| CD4CD4 molecule | Labai dažnai (80–99%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Labai dažnai (80–99%) | 4 ligose |
| CNPY3canopy FGF signaling regulator 3 | Labai dažnai (80–99%) | 1 ligoje |
| COA8cytochrome c oxidase assembly factor 8 | Labai dažnai (80–99%) | 2 ligose |
| DDB2damage specific DNA binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Labai dažnai (80–99%) | 1 ligoje |
| FOXG1forkhead box G1 | Labai dažnai (80–99%) | 3 ligose |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Labai dažnai (80–99%) | 2 ligose |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Labai dažnai (80–99%) | 3 ligose |
| GLB1galactosidase beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| GM2Aganglioside GM2 activator | Labai dažnai (80–99%) | 1 ligoje |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Labai dažnai (80–99%) | 1 ligoje |
| GUF1GTP binding elongation factor GUF1 | Labai dažnai (80–99%) | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Labai dažnai (80–99%) | 2 ligose |
| IRF4interferon regulatory factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| ISCA2iron-sulfur cluster assembly 2 | Labai dažnai (80–99%) | 2 ligose |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Labai dažnai (80–99%) | 2 ligose |
| NAGAalpha-N-acetylgalactosaminidase | Labai dažnai (80–99%) | 2 ligose |
| NAXDNAD(P)HX dehydratase | Labai dažnai (80–99%) | 2 ligose |
| NTNG1netrin G1 | Labai dažnai (80–99%) | 1 ligoje |
| NTNG2netrin G2 | Labai dažnai (80–99%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Labai dažnai (80–99%) | 2 ligose |
| PCDH19protocadherin 19 | Labai dažnai (80–99%) | 2 ligose |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Labai dažnai (80–99%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Labai dažnai (80–99%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| PHACTR1phosphatase and actin regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Labai dažnai (80–99%) | 2 ligose |
| RNU2-2RNA, U2 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| ROGDIrogdi atypical leucine zipper | Labai dažnai (80–99%) | 2 ligose |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Labai dažnai (80–99%) | 6 ligose |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Labai dažnai (80–99%) | 3 ligose |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Labai dažnai (80–99%) | 5 ligose |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Labai dažnai (80–99%) | 2 ligose |
| SIK1salt inducible kinase 1 | Labai dažnai (80–99%) | 2 ligose |
| SLC12A5solute carrier family 12 member 5 | Labai dažnai (80–99%) | 2 ligose |
| SLC13A5solute carrier family 13 member 5 | Labai dažnai (80–99%) | 2 ligose |
| SLC25A22solute carrier family 25 member 22 | Labai dažnai (80–99%) | 2 ligose |
| SLC29A3solute carrier family 29 member 3 | Labai dažnai (80–99%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Labai dažnai (80–99%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Labai dažnai (80–99%) | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Labai dažnai (80–99%) | 1 ligoje |
| SUMF1sulfatase modifying factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Labai dažnai (80–99%) | 1 ligoje |
| TNFRSF11ATNF receptor superfamily member 11a | Labai dažnai (80–99%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Labai dažnai (80–99%) | 1 ligoje |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Labai dažnai (80–99%) | 1 ligoje |
| WDR45WD repeat domain 45 | Labai dažnai (80–99%) | 1 ligoje |
| XPAXPA, DNA damage recognition and repair factor | Labai dažnai (80–99%) | 1 ligoje |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Labai dažnai (80–99%) | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Labai dažnai (80–99%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| ACTL6Bactin like 6B | Dažnai (30–79%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Dažnai (30–79%) | 3 ligose |
| ADPRSADP-ribosylserine hydrolase | Dažnai (30–79%) | 1 ligoje |
| AHCYadenosylhomocysteinase | Dažnai (30–79%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Dažnai (30–79%) | 1 ligoje |
| ARSAarylsulfatase A | Dažnai (30–79%) | 3 ligose |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 2 ligose |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| BCKDKbranched chain keto acid dehydrogenase kinase | Dažnai (30–79%) | 1 ligoje |
| BOLA3bolA family member 3 | Dažnai (30–79%) | 2 ligose |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 2 ligose |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Dažnai (30–79%) | 2 ligose |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Dažnai (30–79%) | 1 ligoje |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Dažnai (30–79%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Dažnai (30–79%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Dažnai (30–79%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Dažnai (30–79%) | 2 ligose |
| CLTCclathrin heavy chain | Dažnai (30–79%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Dažnai (30–79%) | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Dažnai (30–79%) | 2 ligose |
| COQ8Acoenzyme Q8A | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| CTNNB1catenin beta 1 | Dažnai (30–79%) | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Dažnai (30–79%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| DEAF1DEAF1 transcription factor | Dažnai (30–79%) | 2 ligose |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Dažnai (30–79%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 1 ligoje |
| DNM1dynamin 1 | Dažnai (30–79%) | 3 ligose |
| DNM1Ldynamin 1L | Dažnai (30–79%) | 2 ligose |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ETHE1ETHE1 persulfide dioxygenase | Dažnai (30–79%) | 2 ligose |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Dažnai (30–79%) | 1 ligoje |
| FBXO28F-box protein 28 | Dažnai (30–79%) | 2 ligose |
| FDXRferredoxin reductase | Dažnai (30–79%) | 2 ligose |
| FRRS1Lferric chelate reductase 1 like | Dažnai (30–79%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Dažnai (30–79%) | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Dažnai (30–79%) | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Dažnai (30–79%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Dažnai (30–79%) | 1 ligoje |
| GALCgalactosylceramidase | Dažnai (30–79%) | 2 ligose |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Dažnai (30–79%) | 3 ligose |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Dažnai (30–79%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Dažnai (30–79%) | 2 ligose |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Dažnai (30–79%) | 1 ligoje |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Dažnai (30–79%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Dažnai (30–79%) | 2 ligose |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Dažnai (30–79%) | 2 ligose |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Dažnai (30–79%) | 1 ligoje |
| ISCA1iron-sulfur cluster assembly 1 | Dažnai (30–79%) | 2 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Dažnai (30–79%) | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Dažnai (30–79%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Dažnai (30–79%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Dažnai (30–79%) | 2 ligose |
| KLHL20kelch like family member 20 | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Dažnai (30–79%) | 1 ligoje |
| LSM11LSM11, U7 small nuclear RNA associated | Dažnai (30–79%) | 1 ligoje |
| LYRM7LYR motif containing 7 | Dažnai (30–79%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Dažnai (30–79%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Dažnai (30–79%) | 2 ligose |
| MED27mediator complex subunit 27 | Dažnai (30–79%) | 1 ligoje |
| MRPL39mitochondrial ribosomal protein L39 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 2 ligose |
| NAXENAD(P)HX epimerase | Dažnai (30–79%) | 2 ligose |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Dažnai (30–79%) | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Dažnai (30–79%) | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Dažnai (30–79%) | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Dažnai (30–79%) | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Dažnai (30–79%) | 3 ligose |
| NGLY1N-glycanase 1 | Dažnai (30–79%) | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| NUP214nucleoporin 214 | Dažnai (30–79%) | 1 ligoje |
| NUP54nucleoporin 54 | Dažnai (30–79%) | 1 ligoje |
| NUP62nucleoporin 62 | Dažnai (30–79%) | 2 ligose |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Dažnai (30–79%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| PDE2Aphosphodiesterase 2A | Dažnai (30–79%) | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Dažnai (30–79%) | 1 ligoje |
| PGBD5piggyBac transposable element derived 5 | Dažnai (30–79%) | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Dažnai (30–79%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 2 ligose |
| POLR1ARNA polymerase I subunit A | Dažnai (30–79%) | 2 ligose |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Dažnai (30–79%) | 2 ligose |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Dažnai (30–79%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Dažnai (30–79%) | 1 ligoje |
| RANBP2RAN binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 2 ligose |
| RNASEH2Aribonuclease H2 subunit A | Dažnai (30–79%) | 1 ligoje |
| RNASEH2Bribonuclease H2 subunit B | Dažnai (30–79%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Dažnai (30–79%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Dažnai (30–79%) | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Dažnai (30–79%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 3 ligose |
| SLC1A2solute carrier family 1 member 2 | Dažnai (30–79%) | 2 ligose |
| SLC38A3solute carrier family 38 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Dažnai (30–79%) | 2 ligose |
| SONSON DNA and RNA binding protein | Dažnai (30–79%) | 2 ligose |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Dažnai (30–79%) | 3 ligose |
| SYNJ1synaptojanin 1 | Dažnai (30–79%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Dažnai (30–79%) | 1 ligoje |
| TBC1D2BTBC1 domain family member 2B | Dažnai (30–79%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Dažnai (30–79%) | 2 ligose |
| TBCEtubulin folding cofactor E | Dažnai (30–79%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Dažnai (30–79%) | 2 ligose |
| TRAK1trafficking kinesin protein 1 | Dažnai (30–79%) | 2 ligose |
| TREX1three prime repair exonuclease 1 | Dažnai (30–79%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Dažnai (30–79%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Dažnai (30–79%) | 1 ligoje |
| WASF1WASP family member 1 | Dažnai (30–79%) | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Dažnai (30–79%) | 1 ligoje |
| AAASaladin WD repeat nucleoporin | Kartais (5–29%) | 1 ligoje |
| ADGRV1adhesion G protein-coupled receptor V1 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| AMNamnion associated transmembrane protein | Kartais (5–29%) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ATMATM serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Kartais (5–29%) | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| C4Acomplement C4A (Chido/Rodgers blood group) | Kartais (5–29%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Kartais (5–29%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Kartais (5–29%) | 1 ligoje |
| CCR1C-C motif chemokine receptor 1 | Kartais (5–29%) | 1 ligoje |
| CD40LGCD40 ligand | Kartais (5–29%) | 1 ligoje |
| CHEK2checkpoint kinase 2 | Kartais (5–29%) | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Kartais (5–29%) | 1 ligoje |
| CICcapicua transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| CISD2CDGSH iron sulfur domain 2 | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| CPA6carboxypeptidase A6 | Kartais (5–29%) | 1 ligoje |
| CUBNcubilin | Kartais (5–29%) | 1 ligoje |
| CUX2cut like homeobox 2 | Kartais (5–29%) | 2 ligose |
| DMXL2Dmx like 2 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Kartais (5–29%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| EPCAMepithelial cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| FASFas cell surface death receptor | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FGF13fibroblast growth factor 13 | Kartais (5–29%) | 2 ligose |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Kartais (5–29%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| GAMTguanidinoacetate N-methyltransferase | Kartais (5–29%) | 1 ligoje |
| GCDHglutaryl-CoA dehydrogenase | Kartais (5–29%) | 2 ligose |
| GLAgalactosidase alpha | Kartais (5–29%) | 1 ligoje |
| GLRX5glutaredoxin 5 | Kartais (5–29%) | 1 ligoje |
| GMPPAGDP-mannose pyrophosphorylase A | Kartais (5–29%) | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 2 ligose |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Kartais (5–29%) | 2 ligose |
| GRM7glutamate metabotropic receptor 7 | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 1 ligoje |
| IFNGR1interferon gamma receptor 1 | Kartais (5–29%) | 1 ligoje |
| IL10interleukin 10 | Kartais (5–29%) | 1 ligoje |
| IL12Ainterleukin 12A | Kartais (5–29%) | 1 ligoje |
| IL12A-AS1IL12A antisense RNA 1 | Kartais (5–29%) | 1 ligoje |
| IL23Rinterleukin 23 receptor | Kartais (5–29%) | 1 ligoje |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Kartais (5–29%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Kartais (5–29%) | 1 ligoje |
| KLRC4killer cell lectin like receptor C4 | Kartais (5–29%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| MAPK10mitogen-activated protein kinase 10 | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| MEFVMEFV innate immunity regulator, pyrin | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MLH1mutL homolog 1 | Kartais (5–29%) | 1 ligoje |
| MSH2mutS homolog 2 | Kartais (5–29%) | 1 ligoje |
| MSH6mutS homolog 6 | Kartais (5–29%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Kartais (5–29%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Kartais (5–29%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Kartais (5–29%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Kartais (5–29%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Kartais (5–29%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Kartais (5–29%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Kartais (5–29%) | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Kartais (5–29%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Kartais (5–29%) | 1 ligoje |
| MUTYHmutY DNA glycosylase | Kartais (5–29%) | 1 ligoje |
| NACC1nucleus accumbens associated 1 | Kartais (5–29%) | 1 ligoje |
| NBEAneurobeachin | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Kartais (5–29%) | 1 ligoje |
| NEU1neuraminidase 1 | Kartais (5–29%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Kartais (5–29%) | 1 ligoje |
| NPATnuclear protein, coactivator of histone transcription | Kartais (5–29%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Kartais (5–29%) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PLP1proteolipid protein 1 | Kartais (5–29%) | 1 ligoje |
| PMS1PMS1 homolog 1, mismatch repair system component | Kartais (5–29%) | 1 ligoje |
| PMS2PMS1 homolog 2, mismatch repair system component | Kartais (5–29%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Kartais (5–29%) | 1 ligoje |
| POC1APOC1 centriolar protein A | Kartais (5–29%) | 1 ligoje |
| POLD1DNA polymerase delta 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RPS20ribosomal protein S20 | Kartais (5–29%) | 1 ligoje |
| RPS6KC1ribosomal protein S6 kinase C1 | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 2 ligose |
| SEMA4Asemaphorin 4A | Kartais (5–29%) | 1 ligoje |
| SGPL1sphingosine-1-phosphate lyase 1 | Kartais (5–29%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Kartais (5–29%) | 1 ligoje |
| SNF8SNF8 subunit of ESCRT-II | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Kartais (5–29%) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| STX1Bsyntaxin 1B | Kartais (5–29%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Kartais (5–29%) | 2 ligose |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TCEAL1transcription elongation factor A like 1 | Kartais (5–29%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Kartais (5–29%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Kartais (5–29%) | 1 ligoje |
| TLR4toll like receptor 4 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TPK1thiamin pyrophosphokinase 1 | Kartais (5–29%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Kartais (5–29%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Kartais (5–29%) | 1 ligoje |
| TTPAalpha tocopherol transfer protein | Kartais (5–29%) | 1 ligoje |
| UBAC2UBA domain containing 2 | Kartais (5–29%) | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Kartais (5–29%) | 1 ligoje |
| UGP2UDP-glucose pyrophosphorylase 2 | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WFS1wolframin ER transmembrane glycoprotein | Kartais (5–29%) | 1 ligoje |
| WLSWnt ligand secretion mediator | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Retai (1–4 %) | 1 ligoje |
| DPYSdihydropyrimidinase | Retai (1–4 %) | 1 ligoje |
| FBXW7F-box and WD repeat domain containing 7 | Retai (1–4 %) | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Retai (1–4 %) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Retai (1–4 %) | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Retai (1–4 %) | 1 ligoje |
| AGAaspartylglucosaminidase | Neužfiksuota | 1 ligoje |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Neužfiksuota | 1 ligoje |
| ASPAaspartoacylase | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| CLN5CLN5 lysosomal BMP synthase | Neužfiksuota | 1 ligoje |
| COASYCoenzyme A synthase | Neužfiksuota | 1 ligoje |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Neužfiksuota | 1 ligoje |
| FITM2fat storage inducing transmembrane protein 2 | Neužfiksuota | 1 ligoje |
| FOLR1folate receptor alpha | Neužfiksuota | 1 ligoje |
| GFAPglial fibrillary acidic protein | Neužfiksuota | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Neužfiksuota | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Neužfiksuota | 1 ligoje |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Neužfiksuota | 1 ligoje |
| MRPS34mitochondrial ribosomal protein S34 | Neužfiksuota | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Neužfiksuota | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Neužfiksuota | 1 ligoje |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Neužfiksuota | 1 ligoje |
| NRXN1neurexin 1 | Neužfiksuota | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Neužfiksuota | 1 ligoje |
| SEMA6Bsemaphorin 6B | Neužfiksuota | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Neužfiksuota | 1 ligoje |
| SLC25A42solute carrier family 25 member 42 | Neužfiksuota | 1 ligoje |
| TPP1tripeptidyl peptidase 1 | Neužfiksuota | 1 ligoje |
| TUFMTu translation elongation factor, mitochondrial | Neužfiksuota | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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