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Cecha
Cognitive impairment
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Podsumowanie
- Znana także jako
- Abnormality of cognition, Cognitive abnormality, Cognitive defects, Cognitive deficits, Intellectual impairment
- Układ organizmu
- Abnormality of the nervous system
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Ta strona jako dane
Aby odczytać ją jako JSON, dodaj .json na końcu adresu strony lub zażądaj application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/cognitive-impairment.json"
page <- fromJSON(url)
page$trait$nameCognitive impairmentHP:0100543
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Cognitive impairment oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test186 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Inherited Neurodegenerative DisordersReads 109 of these genesABCB7SQSTM1ATP13A2BSCL2CHCHD10COASYAbout this report →
- Bardet-Biedl and Alström SyndromesReads 23 of these genesLZTFL1ARL6BBIP1BBS1BBS10BBS12About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 25 of these genesSQSTM1CHCHD10ANGANXA11CCNFCHMP2BAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
Show 182 more reports
- Rare Hereditary Peripheral NeuropathiesReads 47 of these genesBSCL2CHCHD10PEX1PEX10PEX11BPEX12About this report →
- Epilepsy (Full Panel)Reads 37 of these genesKCNQ2KCNT1PIGAPLCB1SCN1ASCN2AAbout this report →
- Parkinson DiseaseReads 10 of these genesATP13A2FBXO7SNCADNAJC6LRRK2PARK7About this report →
- Other Inherited LeukodystrophiesReads 23 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Hereditary Spastic ParaplegiaReads 20 of these genesATP13A2BSCL2PLP1AP5Z1FA2HGBA2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 14 of these genesITPR1ATN1ATXN1ATXN2KCNC3STUB1About this report →
- Frontotemporal DementiaReads 8 of these genesSQSTM1CHCHD10CCNFCHMP2BHNRNPA1HNRNPA2B1About this report →
- Congenital Muscular DystrophiesReads 10 of these genesB3GALNT2CRPPAFKRPFKTNGMPPBLARGE1About this report →
- Primary Mitochondrial DiseaseReads 21 of these genesDNA2MT-TPMTRFRPOLGAFG3L2AIFM1About this report →
- Hereditary Optic NeuropathyReads 6 of these genesMT-ND5AFG3L2ATP1A3DNM1LOPA1OPA3About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 12 of these genesPEX6CEP290CYP27A1GRID2MKS1PMPCAAbout this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 5 of these genesATP13A2COASYFTLCPPANK2About this report →
- DNA Repair DiseaseReads 10 of these genesDDB2ERCC2ERCC3ERCC4ERCC5XPAAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 3 of these genesTREM2CSF1RLMNB1About this report →
- Cerebral Cavernous MalformationReads 3 of these genesCCM2KRIT1PDCD10About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 2 of these genesNOTCH3HTRA1About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 2 of these genesPTENAKT1About this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 2 of these genesGM2AHEXBAbout this report →
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Distal MyopathiesReads 6 of these genesHNRNPA1HNRNPA2B1LRP12MATR3VCPGNEAbout this report →
- Alzheimer diseaseReads 3 of these genesTREM2APOEPSEN2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 8 of these genesSLC18A2PNKPSPRATP1A3KMT2BPRKRAAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 6 of these genesCLCF1CRLF1SCN9AAIFM1SPTLC1SPTLC2About this report →
- Lysosomal Storage DiseaseReads 10 of these genesGM2AAP5Z1CLN8CYP27A1GLAGNPTABAbout this report →
- Leigh SyndromeReads 10 of these genesMT-ND5MT-TKMTRFRAIFM1GTPBP3OPA1About this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 2 of these genesSMARCB1SMARCE1About this report →
- Charcot-Marie-Tooth DiseaseReads 10 of these genesBSCL2DCTN1FIG4NEFHVCPAIFM1About this report →
- Congenital Disorders of GlycosylationReads 11 of these genesCRPPAFKRPFKTNGMPPBPIGAPOMGNT1About this report →
- Limb-Girdle Muscular DystrophyReads 6 of these genesFKRPFKTNGMPPBPOMGNT1TRIM32LAMA2About this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 4 of these genesDSG4KRT81KRT83KRT86About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 2 of these genesGDF5GDF6About this report →
- NeurofibromatosisReads 2 of these genesNF2SMARCB1About this report →
- 3-Methylglutaconic Aciduria Type 1Reads 1 of these genesAUHAbout this report →
- 3-Methylglutaconic Aciduria Type 8 (HTRA2)Reads 1 of these genesHTRA2About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Ataxia-TelangiectasiaReads 1 of these genesATMAbout this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)Reads 1 of these genesCSF1RAbout this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- Chediak-Higashi syndromeReads 1 of these genesLYSTAbout this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- Congenital Central Hypoventilation SyndromeReads 1 of these genesPHOX2BAbout this report →
- Curry-Jones Syndrome (Mosaic SMO Syndrome)Reads 1 of these genesSMOAbout this report →
- CYP7B1-Related Spastic Paraplegia and Liver DiseaseReads 1 of these genesCYP7B1About this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumReads 1 of these genesDCCAbout this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- Horizontal Gaze Palsy with Progressive ScoliosisReads 1 of these genesROBO3About this report →
- HyperlysinaemiaReads 1 of these genesAASSAbout this report →
- KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic MyoclonusReads 1 of these genesKCNQ2About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- KIF5A-Related Amyotrophic Lateral SclerosisReads 1 of these genesKIF5AAbout this report →
- L1 SyndromeReads 1 of these genesL1CAMAbout this report →
- Li-Fraumeni SyndromeReads 1 of these genesTP53About this report →
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIReads 1 of these genesPCNTAbout this report →
- NFIA-Related Brain MalformationsReads 1 of these genesNFIAAbout this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- OPTN-Related Normal-Tension GlaucomaReads 1 of these genesOPTNAbout this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- X-linked Autoinflammatory DiseaseReads 1 of these genesIKBKGAbout this report →
- Spinal Muscular AtrophyReads 5 of these genesBSCL2CHCHD10DCTN1SIGMAR1UBA1About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 3 of these genesMAOASLC18A2SPRAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 2 of these genesPIK3CAMTORAbout this report →
- Autoimmune DiseaseReads 4 of these genesFASTREX1CHRNGSAT1About this report →
- Urea Cycle DisorderReads 3 of these genesSLC25A15SLC7A7NAGSAbout this report →
- Urinary and Renal System TumourReads 3 of these genesBAP1TP53SDHAAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesBRPF1SETD5TBCKTRAF7About this report →
- Cornelia de Lange SyndromeReads 2 of these genesSMC1ASMC3About this report →
- Systemic Lupus ErythematosusReads 2 of these genesTREX1SAT1About this report →
- Basal Ganglia CalcificationReads 2 of these genesPDGFBXPR1About this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 2 of these genesSIM1CEP19About this report →
- Nephrotic SyndromeReads 4 of these genesNUP107NUP133NUP85PODXLAbout this report →
- Hereditary Sideroblastic AnaemiasReads 2 of these genesABCB7GLRX5About this report →
- Malignant Endocrine NeoplasmReads 2 of these genesTP53SDHAAbout this report →
- Age-Related Macular DegenerationReads 1 of these genesCFHAbout this report →
- Congenital Intestinal Atresia & Short BowelReads 1 of these genesCLMPAbout this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A4About this report →
- Myotonic DystrophyReads 1 of these genesCNBPAbout this report →
- Neuroblastoma Predisposition (ALK and PHOX2B)Reads 1 of these genesPHOX2BAbout this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesSUFUAbout this report →
- Retinitis PigmentosaReads 6 of these genesPOMGNT1ARL6BBS2CFAP418IFT172TTC8About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesKMT2BADD3About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesNSD1MAGEL2About this report →
- Kidney CancerReads 2 of these genesBAP1TP53About this report →
- Joubert Syndrome And Related DisordersReads 4 of these genesCEP290MKS1NPHP1SUFUAbout this report →
- Polycystic Kidney DiseaseReads 2 of these genesDZIP1LPKHD1About this report →
- Intellectual DisabilityReads 9 of these genesBRPF1SCN2ASETD5ERBB4PCDH19RAI1About this report →
- Coffin-Siris SyndromeReads 2 of these genesSMARCB1SMARCE1About this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGATMAbout this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesPHOX2BAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Female InfertilityReads 4 of these genesNUP107ATMLARS2TWNKAbout this report →
- Other Inborn Errors of ImmunityReads 8 of these genesFASTREX1ATMIKBKGLYSTRMRPAbout this report →
- Neuronal Ceroid LipofuscinosisReads 2 of these genesATP13A2CLN8About this report →
- Glycogen Storage DiseaseReads 2 of these genesGBE1SLC37A4About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 3 of these genesADA2TREX1SKIC3About this report →
- Cutis LaxaReads 2 of these genesLTBP4RIN2About this report →
- Achondrogenesis panelReads 1 of these genesGDF5About this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 1 of these genesARMC5About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Fanconi Renotubular Syndrome and Renal GlucosuriaReads 1 of these genesGATMAbout this report →
- Hereditary Episodic AtaxiasReads 1 of these genesSCN2AAbout this report →
- Inherited Iron Metabolism DisordersReads 1 of these genesCPAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesGNASAbout this report →
- Autosomal Recessive Primary MicrocephalyReads 2 of these genesCEP152CPAPAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesNPHP1SDCCAG8About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesSOSTAbout this report →
- Noonan SyndromeReads 2 of these genesSPRED1BRAFAbout this report →
- Dilated CardiomyopathyReads 3 of these genesDMDFKTNSYNE1About this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR3SMOAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesSLC25A4About this report →
- Hearing Loss and DeafnessReads 4 of these genesKARS1TBC1D24GJB2AIFM1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesPLP1GJC2About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesNSD1SPRED1BRAFAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesERCC2ERCC5About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNAGAAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesFASAbout this report →
- Classic Organic AciduriasReads 1 of these genesGCDHAbout this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesGNA11About this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 1 of these genesTERTAbout this report →
- Waardenburg SyndromeReads 1 of these genesEDN3About this report →
- Diabetes MellitusReads 2 of these genesBSCL2MT-TL1About this report →
- Thyroid CancerReads 2 of these genesGNA11GNASAbout this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesTREX1About this report →
- GlaucomaReads 1 of these genesOPTNAbout this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesATMAbout this report →
- Familial Pulmonary FibrosisReads 1 of these genesTERTAbout this report →
- Hemolytic Uremic Syndrome, Interstitial NephritisReads 1 of these genesCFHAbout this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesSDHAAbout this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Usher SyndromeReads 1 of these genesADGRV1About this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- Type I InterferonopathiesReads 1 of these genesTREX1About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- HyperlipidemiaReads 1 of these genesAPOEAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBB2BAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesGJC2About this report →
- Ectodermal DysplasiasReads 1 of these genesIKBKGAbout this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- Congenital Stationary Night BlindnessReads 1 of these genesCABP4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMTHFRAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesCOASYAbout this report →
- Dyskeratosis CongenitaReads 1 of these genesTERTAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesFTLAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesDCXAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesSMOAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- VitreoretinopathyReads 1 of these genesIKBKGAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesPPIBAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJB2About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesMAGEL2About this report →
Odczytaj geny powiązane z Cognitive impairment oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test407 genów powiązanych z Cognitive impairment
Zmiany w tych genach powodują rzadkie choroby, w których występuje Cognitive impairment. 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Zawsze | W 2 chorobach |
| COA3cytochrome c oxidase assembly factor 3 | Zawsze | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| GBE11,4-alpha-glucan branching enzyme 1 | Zawsze | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| LZTFL1leucine zipper transcription factor like 1 | Zawsze | W 2 chorobach |
| NIT1nitrilase 1 | Zawsze | W 1 chorobie |
| NOTCH3notch receptor 3 | Zawsze | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Zawsze | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Zawsze | W 1 chorobie |
| SQSTM1sequestosome 1 | Zawsze | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Bardzo często (80–99%) | W 3 chorobach |
| ATRATR checkpoint kinase | Bardzo często (80–99%) | W 1 chorobie |
| ATRIPATR interacting protein | Bardzo często (80–99%) | W 1 chorobie |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Bardzo często (80–99%) | W 1 chorobie |
| BRPF1bromodomain and PHD finger containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Bardzo często (80–99%) | W 1 chorobie |
| CENPEcentromere protein E | Bardzo często (80–99%) | W 1 chorobie |
| CEP152centrosomal protein 152 | Bardzo często (80–99%) | W 1 chorobie |
| CEP295centrosomal protein 295 | Bardzo często (80–99%) | W 1 chorobie |
| CEP63centrosomal protein 63 | Bardzo często (80–99%) | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Bardzo często (80–99%) | W 2 chorobach |
| COASYCoenzyme A synthase | Bardzo często (80–99%) | W 1 chorobie |
| CPAPcentrosome assembly and centriole elongation protein | Bardzo często (80–99%) | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Bardzo często (80–99%) | W 1 chorobie |
| DCXdoublecortin | Bardzo często (80–99%) | W 1 chorobie |
| DDB2damage specific DNA binding protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| DMDdystrophin | Bardzo często (80–99%) | W 1 chorobie |
| DNA2DNA replication helicase/nuclease 2 | Bardzo często (80–99%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Bardzo często (80–99%) | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Bardzo często (80–99%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Bardzo często (80–99%) | W 1 chorobie |
| FASFas cell surface death receptor | Bardzo często (80–99%) | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Bardzo często (80–99%) | W 1 chorobie |
| FKRPfukutin related protein | Bardzo często (80–99%) | W 1 chorobie |
| FKTNfukutin | Bardzo często (80–99%) | W 1 chorobie |
| FTLferritin light chain | Bardzo często (80–99%) | W 1 chorobie |
| GATMglycine amidinotransferase | Bardzo często (80–99%) | W 1 chorobie |
| GM2Aganglioside GM2 activator | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 367 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| GMPPBGDP-mannose pyrophosphorylase B | Bardzo często (80–99%) | W 2 chorobach |
| GON7GON7 subunit of KEOPS complex | Bardzo często (80–99%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Bardzo często (80–99%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Bardzo często (80–99%) | W 2 chorobach |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Bardzo często (80–99%) | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Bardzo często (80–99%) | W 2 chorobach |
| LAGE3L antigen family member 3 | Bardzo często (80–99%) | W 1 chorobie |
| LAMA1laminin subunit alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| LTBP4latent transforming growth factor beta binding protein 4 | Bardzo często (80–99%) | W 1 chorobie |
| MAOAmonoamine oxidase A | Bardzo często (80–99%) | W 1 chorobie |
| NINninein | Bardzo często (80–99%) | W 1 chorobie |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Bardzo często (80–99%) | W 1 chorobie |
| NUP107nucleoporin 107 | Bardzo często (80–99%) | W 1 chorobie |
| NUP133nucleoporin 133 | Bardzo często (80–99%) | W 1 chorobie |
| NUP85nucleoporin 85 | Bardzo często (80–99%) | W 1 chorobie |
| OSGEPO-sialoglycoprotein endopeptidase | Bardzo często (80–99%) | W 1 chorobie |
| PCNTpericentrin | Bardzo często (80–99%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| PEX10peroxisomal biogenesis factor 10 | Bardzo często (80–99%) | W 1 chorobie |
| PEX11Bperoxisomal biogenesis factor 11 beta | Bardzo często (80–99%) | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Bardzo często (80–99%) | W 1 chorobie |
| PEX13peroxisomal biogenesis factor 13 | Bardzo często (80–99%) | W 1 chorobie |
| PEX14peroxisomal biogenesis factor 14 | Bardzo często (80–99%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Bardzo często (80–99%) | W 1 chorobie |
| PEX19peroxisomal biogenesis factor 19 | Bardzo często (80–99%) | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| PEX26peroxisomal biogenesis factor 26 | Bardzo często (80–99%) | W 1 chorobie |
| PEX3peroxisomal biogenesis factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Bardzo często (80–99%) | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Bardzo często (80–99%) | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Bardzo często (80–99%) | W 1 chorobie |
| PLCB1phospholipase C beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| PLK4polo like kinase 4 | Bardzo często (80–99%) | W 1 chorobie |
| PLP1proteolipid protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Bardzo często (80–99%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Bardzo często (80–99%) | W 2 chorobach |
| PRNPprion protein (Kanno blood group) | Bardzo często (80–99%) | W 4 chorobach |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Bardzo często (80–99%) | W 1 chorobie |
| RBBP8RB binding protein 8, endonuclease | Bardzo często (80–99%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Bardzo często (80–99%) | W 3 chorobach |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Bardzo często (80–99%) | W 3 chorobach |
| SETD5SET domain containing 5 | Bardzo często (80–99%) | W 1 chorobie |
| SIM1SIM bHLH transcription factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| SLC12A5solute carrier family 12 member 5 | Bardzo często (80–99%) | W 1 chorobie |
| SLC18A2solute carrier family 18 member A2 | Bardzo często (80–99%) | W 1 chorobie |
| SLC25A15solute carrier family 25 member 15 | Bardzo często (80–99%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Bardzo często (80–99%) | W 1 chorobie |
| TP53RKTP53 regulating kinase | Bardzo często (80–99%) | W 1 chorobie |
| TPRKBTP53RK binding protein | Bardzo często (80–99%) | W 1 chorobie |
| TRAIPTRAF interacting protein | Bardzo często (80–99%) | W 1 chorobie |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| TUBB2Btubulin beta 2B class IIb | Bardzo często (80–99%) | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| WDR73WD repeat domain 73 | Bardzo często (80–99%) | W 1 chorobie |
| XPAXPA, DNA damage recognition and repair factor | Bardzo często (80–99%) | W 1 chorobie |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Bardzo często (80–99%) | W 1 chorobie |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Bardzo często (80–99%) | W 1 chorobie |
| ADA2adenosine deaminase 2 | Często (30–79%) | W 1 chorobie |
| ADAMTSL4ADAMTS like 4 | Często (30–79%) | W 1 chorobie |
| ANGangiogenin | Często (30–79%) | W 1 chorobie |
| ANXA11annexin A11 | Często (30–79%) | W 2 chorobach |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Często (30–79%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Często (30–79%) | W 1 chorobie |
| ATN1atrophin 1 | Często (30–79%) | W 1 chorobie |
| ATXN1ataxin 1 | Często (30–79%) | W 2 chorobach |
| ATXN2ataxin 2 | Często (30–79%) | W 1 chorobie |
| BBIP1BBSome interacting protein 1 | Często (30–79%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Często (30–79%) | W 1 chorobie |
| BBS10Bardet-Biedl syndrome 10 | Często (30–79%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Często (30–79%) | W 2 chorobach |
| BBS2Bardet-Biedl syndrome 2 | Często (30–79%) | W 1 chorobie |
| BBS4Bardet-Biedl syndrome 4 | Często (30–79%) | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | Często (30–79%) | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Często (30–79%) | W 1 chorobie |
| BBS9Bardet-Biedl syndrome 9 | Często (30–79%) | W 1 chorobie |
| CACHD1cache domain containing 1 | Często (30–79%) | W 1 chorobie |
| CCNFcyclin F | Często (30–79%) | W 1 chorobie |
| CEP19centrosomal protein 19 | Często (30–79%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Często (30–79%) | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Często (30–79%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Często (30–79%) | W 1 chorobie |
| CHMP2Bcharged multivesicular body protein 2B | Często (30–79%) | W 1 chorobie |
| CLCF1cardiotrophin like cytokine factor 1 | Często (30–79%) | W 1 chorobie |
| CLMPCXADR like cell adhesion molecule | Często (30–79%) | W 1 chorobie |
| CLN8CLN8 transmembrane ER and ERGIC protein | Często (30–79%) | W 1 chorobie |
| CMPK2cytidine/uridine monophosphate kinase 2 | Często (30–79%) | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Często (30–79%) | W 1 chorobie |
| CPceruloplasmin | Często (30–79%) | W 1 chorobie |
| CRLF1cytokine receptor like factor 1 | Często (30–79%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| DAOD-amino acid oxidase | Często (30–79%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Często (30–79%) | W 1 chorobie |
| DCTN1dynactin subunit 1 | Często (30–79%) | W 1 chorobie |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Często (30–79%) | W 1 chorobie |
| FA2Hfatty acid 2-hydroxylase | Często (30–79%) | W 1 chorobie |
| FBN1fibrillin 1 | Często (30–79%) | W 1 chorobie |
| FBXO7F-box protein 7 | Często (30–79%) | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| FLNAfilamin A | Często (30–79%) | W 1 chorobie |
| FUSFUS RNA binding protein | Często (30–79%) | W 2 chorobach |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Często (30–79%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Często (30–79%) | W 2 chorobach |
| GBA2glucosylceramidase beta 2 | Często (30–79%) | W 1 chorobie |
| GDF5growth differentiation factor 5 | Często (30–79%) | W 1 chorobie |
| GJB2gap junction protein beta 2 | Często (30–79%) | W 1 chorobie |
| GJC2gap junction protein gamma 2 | Często (30–79%) | W 2 chorobach |
| GLAgalactosidase alpha | Często (30–79%) | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Często (30–79%) | W 1 chorobie |
| GLT8D1glycosyltransferase 8 domain containing 1 | Często (30–79%) | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Często (30–79%) | W 2 chorobach |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Często (30–79%) | W 1 chorobie |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Często (30–79%) | W 1 chorobie |
| HEXBhexosaminidase subunit beta | Często (30–79%) | W 1 chorobie |
| HMBShydroxymethylbilane synthase | Często (30–79%) | W 1 chorobie |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Często (30–79%) | W 1 chorobie |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Często (30–79%) | W 1 chorobie |
| HTRA1HtrA serine peptidase 1 | Często (30–79%) | W 2 chorobach |
| IFT172intraflagellar transport 172 | Często (30–79%) | W 1 chorobie |
| IFT27intraflagellar transport 27 | Często (30–79%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Często (30–79%) | W 1 chorobie |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Często (30–79%) | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Często (30–79%) | W 1 chorobie |
| LRP12LDL receptor related protein 12 | Często (30–79%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Często (30–79%) | W 1 chorobie |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| MATR3matrin 3 | Często (30–79%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Często (30–79%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Często (30–79%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Często (30–79%) | W 1 chorobie |
| MT-RNR1mitochondrially encoded 12S rRNA | Często (30–79%) | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Często (30–79%) | W 1 chorobie |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Często (30–79%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Często (30–79%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Często (30–79%) | W 2 chorobach |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Często (30–79%) | W 1 chorobie |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Często (30–79%) | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Często (30–79%) | W 1 chorobie |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Często (30–79%) | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Często (30–79%) | W 3 chorobach |
| NEFHneurofilament heavy chain | Często (30–79%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Często (30–79%) | W 1 chorobie |
| NOTCH2NLCnotch 2 N-terminal like C | Często (30–79%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Często (30–79%) | W 1 chorobie |
| OPTNoptineurin | Często (30–79%) | W 1 chorobie |
| PANK2pantothenate kinase 2 | Często (30–79%) | W 2 chorobach |
| PCDH19protocadherin 19 | Często (30–79%) | W 1 chorobie |
| PFN1profilin 1 | Często (30–79%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Często (30–79%) | W 1 chorobie |
| PMPCApeptidase, mitochondrial processing subunit alpha | Często (30–79%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Często (30–79%) | W 2 chorobach |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 5 chorobach |
| PORCNporcupine O-acyltransferase | Często (30–79%) | W 1 chorobie |
| PRPHperipherin | Często (30–79%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Często (30–79%) | W 1 chorobie |
| RAB32RAB32, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 1 chorobie |
| RIN2Ras and Rab interactor 2 | Często (30–79%) | W 1 chorobie |
| ROBO3roundabout guidance receptor 3 | Często (30–79%) | W 1 chorobie |
| SCAPERS-phase cyclin A associated protein in the ER | Często (30–79%) | W 1 chorobie |
| SCLT1sodium channel and clathrin linker 1 | Często (30–79%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 2 chorobach |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Często (30–79%) | W 2 chorobach |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Często (30–79%) | W 2 chorobach |
| SLC7A7solute carrier family 7 member 7 | Często (30–79%) | W 1 chorobie |
| SNCAsynuclein alpha | Często (30–79%) | W 2 chorobach |
| SNORD118small nucleolar RNA, C/D box 118 | Często (30–79%) | W 1 chorobie |
| SOD1superoxide dismutase 1 | Często (30–79%) | W 1 chorobie |
| SPARTspartin | Często (30–79%) | W 1 chorobie |
| SPRsepiapterin reductase | Często (30–79%) | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | Często (30–79%) | W 2 chorobach |
| TAF15TATA-box binding protein associated factor 15 | Często (30–79%) | W 1 chorobie |
| TARDBPTAR DNA binding protein | Często (30–79%) | W 2 chorobach |
| TBK1TANK binding kinase 1 | Często (30–79%) | W 1 chorobie |
| TMEM240transmembrane protein 240 | Często (30–79%) | W 2 chorobach |
| TREM2triggering receptor expressed on myeloid cells 2 | Często (30–79%) | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Często (30–79%) | W 1 chorobie |
| TRIM32tripartite motif containing 32 | Często (30–79%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Często (30–79%) | W 1 chorobie |
| UBQLN2ubiquilin 2 | Często (30–79%) | W 2 chorobach |
| UNC13Aunc-13 homolog A | Często (30–79%) | W 1 chorobie |
| VAPBVAMP associated protein B and C | Często (30–79%) | W 1 chorobie |
| VCPvalosin containing protein | Często (30–79%) | W 1 chorobie |
| WDPCPWD repeat containing planar cell polarity effector | Często (30–79%) | W 1 chorobie |
| ZFYVE26zinc finger FYVE-type containing 26 | Często (30–79%) | W 1 chorobie |
| AASSaminoadipate-semialdehyde synthase | Czasami (5–29%) | W 2 chorobach |
| ABCA5ATP binding cassette subfamily A member 5 | Czasami (5–29%) | W 1 chorobie |
| ABCD1ATP binding cassette subfamily D member 1 | Czasami (5–29%) | W 1 chorobie |
| ADGRV1adhesion G protein-coupled receptor V1 | Czasami (5–29%) | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Czasami (5–29%) | W 2 chorobach |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Czasami (5–29%) | W 1 chorobie |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Czasami (5–29%) | W 1 chorobie |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Czasami (5–29%) | W 1 chorobie |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Czasami (5–29%) | W 1 chorobie |
| ATMATM serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| BAP1BRCA1 associated deubiquitinase 1 | Czasami (5–29%) | W 1 chorobie |
| BDNFbrain derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| CABP4calcium binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| CCM2CCM2 scaffold protein | Czasami (5–29%) | W 1 chorobie |
| CHRM3cholinergic receptor muscarinic 3 | Czasami (5–29%) | W 1 chorobie |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Czasami (5–29%) | W 1 chorobie |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Czasami (5–29%) | W 1 chorobie |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Czasami (5–29%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Czasami (5–29%) | W 1 chorobie |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Czasami (5–29%) | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Czasami (5–29%) | W 1 chorobie |
| COQ4coenzyme Q4 | Czasami (5–29%) | W 1 chorobie |
| CPA6carboxypeptidase A6 | Czasami (5–29%) | W 1 chorobie |
| CRHcorticotropin releasing hormone | Czasami (5–29%) | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Czasami (5–29%) | W 1 chorobie |
| CTNScystinosin, lysosomal cystine transporter | Czasami (5–29%) | W 1 chorobie |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Czasami (5–29%) | W 2 chorobach |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Czasami (5–29%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Czasami (5–29%) | W 2 chorobach |
| DGUOKdeoxyguanosine kinase | Czasami (5–29%) | W 1 chorobie |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Czasami (5–29%) | W 1 chorobie |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Czasami (5–29%) | W 2 chorobach |
| DSG4desmoglein 4 | Czasami (5–29%) | W 1 chorobie |
| EDN3endothelin 3 | Czasami (5–29%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Czasami (5–29%) | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Czasami (5–29%) | W 1 chorobie |
| ERLIN1ER lipid raft associated 1 | Czasami (5–29%) | W 1 chorobie |
| FGF13fibroblast growth factor 13 | Czasami (5–29%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Czasami (5–29%) | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| GDF3growth differentiation factor 3 | Czasami (5–29%) | W 1 chorobie |
| GDF6growth differentiation factor 6 | Czasami (5–29%) | W 1 chorobie |
| GDNFglial cell derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| GNA11G protein subunit alpha 11 | Czasami (5–29%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Czasami (5–29%) | W 1 chorobie |
| GPC4glypican 4 | Czasami (5–29%) | W 1 chorobie |
| GTPBP3GTP binding protein 3, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Czasami (5–29%) | W 1 chorobie |
| KCND3potassium voltage-gated channel subfamily D member 3 | Czasami (5–29%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| KRIT1KRIT1 ankyrin repeat containing | Czasami (5–29%) | W 1 chorobie |
| KRT81keratin 81 | Czasami (5–29%) | W 1 chorobie |
| KRT83keratin 83 | Czasami (5–29%) | W 1 chorobie |
| KRT86keratin 86 | Czasami (5–29%) | W 1 chorobie |
| LAMA2laminin subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| LBX1ladybird homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| LMNB1lamin B1 | Czasami (5–29%) | W 1 chorobie |
| LRRK2leucine rich repeat kinase 2 | Czasami (5–29%) | W 1 chorobie |
| LYSTlysosomal trafficking regulator | Czasami (5–29%) | W 1 chorobie |
| MEOX1mesenchyme homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Czasami (5–29%) | W 1 chorobie |
| MTHFRmethylenetetrahydrofolate reductase | Czasami (5–29%) | W 1 chorobie |
| MYH3myosin heavy chain 3 | Czasami (5–29%) | W 1 chorobie |
| MYO1Hmyosin IH | Czasami (5–29%) | W 1 chorobie |
| NAGSN-acetylglutamate synthase | Czasami (5–29%) | W 2 chorobach |
| NEFLneurofilament light chain | Czasami (5–29%) | W 1 chorobie |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Czasami (5–29%) | W 1 chorobie |
| NKX6-2NK6 homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| NPRL2NPR2 like, GATOR1 complex subunit | Czasami (5–29%) | W 1 chorobie |
| NPRL3NPR3 like, GATOR1 complex subunit | Czasami (5–29%) | W 1 chorobie |
| PARK7Parkinsonism associated deglycase | Czasami (5–29%) | W 1 chorobie |
| PDCD10programmed cell death 10 | Czasami (5–29%) | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Czasami (5–29%) | W 2 chorobach |
| PHOX2Bpaired like homeobox 2B | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 2 chorobach |
| PINK1PTEN induced kinase 1 | Czasami (5–29%) | W 1 chorobie |
| PODXLpodocalyxin like | Czasami (5–29%) | W 1 chorobie |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Czasami (5–29%) | W 1 chorobie |
| PRKCGprotein kinase C gamma | Czasami (5–29%) | W 1 chorobie |
| PRKNparkin RBR E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Czasami (5–29%) | W 1 chorobie |
| PRRT2proline rich transmembrane protein 2 | Czasami (5–29%) | W 1 chorobie |
| RAB3ARAB3A, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RBM12RNA binding motif protein 12 | Czasami (5–29%) | W 1 chorobie |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Czasami (5–29%) | W 1 chorobie |
| RNASEH1ribonuclease H1 | Czasami (5–29%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Czasami (5–29%) | W 2 chorobach |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Czasami (5–29%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC37A4solute carrier family 37 member 4 | Czasami (5–29%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Czasami (5–29%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Czasami (5–29%) | W 1 chorobie |
| SMOsmoothened, frizzled class receptor | Czasami (5–29%) | W 1 chorobie |
| SORDsorbitol dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SPASTspastin | Czasami (5–29%) | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Czasami (5–29%) | W 1 chorobie |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Czasami (5–29%) | W 2 chorobach |
| SPTBN1spectrin beta, non-erythrocytic 1 | Czasami (5–29%) | W 1 chorobie |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Czasami (5–29%) | W 1 chorobie |
| STARD7StAR related lipid transfer domain containing 7 | Czasami (5–29%) | W 1 chorobie |
| STX1Bsyntaxin 1B | Czasami (5–29%) | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Czasami (5–29%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Czasami (5–29%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Czasami (5–29%) | W 1 chorobie |
| TERTtelomerase reverse transcriptase | Czasami (5–29%) | W 1 chorobie |
| THAP11THAP domain containing 11 | Czasami (5–29%) | W 1 chorobie |
| TP53tumor protein p53 | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TRMT2BtRNA methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| TSC1TSC complex subunit 1 | Czasami (5–29%) | W 2 chorobach |
| TSC2TSC complex subunit 2 | Czasami (5–29%) | W 2 chorobach |
| TWNKtwinkle mtDNA helicase | Czasami (5–29%) | W 3 chorobach |
| UCHL1ubiquitin C-terminal hydrolase L1 | Czasami (5–29%) | W 1 chorobie |
| VPS13Cvacuolar protein sorting 13 homolog C | Czasami (5–29%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Rzadko (1–4%) | W 1 chorobie |
| ARMC5armadillo repeat containing 5 | Rzadko (1–4%) | W 1 chorobie |
| DNM1Ldynamin 1L | Rzadko (1–4%) | W 1 chorobie |
| DZIP1LDAZ interacting zinc finger protein 1 like | Rzadko (1–4%) | W 1 chorobie |
| GNASGNAS complex locus | Rzadko (1–4%) | W 4 chorobach |
| IRAK1interleukin 1 receptor associated kinase 1 | Rzadko (1–4%) | W 1 chorobie |
| KDM1Alysine demethylase 1A | Rzadko (1–4%) | W 1 chorobie |
| KIF5Akinesin family member 5A | Rzadko (1–4%) | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Rzadko (1–4%) | W 1 chorobie |
| PABPN1poly(A) binding protein nuclear 1 | Rzadko (1–4%) | W 1 chorobie |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Rzadko (1–4%) | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Rzadko (1–4%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Rzadko (1–4%) | W 1 chorobie |
| RRM1ribonucleotide reductase catalytic subunit M1 | Rzadko (1–4%) | W 1 chorobie |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Rzadko (1–4%) | W 1 chorobie |
| SPP1secreted phosphoprotein 1 | Rzadko (1–4%) | W 1 chorobie |
| SPRED1sprouty related EVH1 domain containing 1 | Rzadko (1–4%) | W 1 chorobie |
| STAT4signal transducer and activator of transcription 4 | Rzadko (1–4%) | W 1 chorobie |
| TK2thymidine kinase 2 | Rzadko (1–4%) | W 1 chorobie |
| TOP3ADNA topoisomerase III alpha | Rzadko (1–4%) | W 1 chorobie |
| UBA1ubiquitin like modifier activating enzyme 1 | Rzadko (1–4%) | W 1 chorobie |
| ADD3adducin 3 | Nie odnotowano | W 1 chorobie |
| APOEapolipoprotein E | Nie odnotowano | W 1 chorobie |
| APTXaprataxin | Nie odnotowano | W 1 chorobie |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Nie odnotowano | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nie odnotowano | W 1 chorobie |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nie odnotowano | W 1 chorobie |
| CFHcomplement factor H | Nie odnotowano | W 1 chorobie |
| CFHR1complement factor H related 1 | Nie odnotowano | W 1 chorobie |
| CFHR3complement factor H related 3 | Nie odnotowano | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Nie odnotowano | W 1 chorobie |
| GLRX5glutaredoxin 5 | Nie odnotowano | W 1 chorobie |
| IBA57iron-sulfur cluster assembly factor IBA57 | Nie odnotowano | W 1 chorobie |
| MAGmyelin associated glycoprotein | Nie odnotowano | W 1 chorobie |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Nie odnotowano | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Nie odnotowano | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Nie odnotowano | W 1 chorobie |
| NFIAnuclear factor I A | Nie odnotowano | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nie odnotowano | W 1 chorobie |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Nie odnotowano | W 1 chorobie |
| PRDM8PR/SET domain 8 | Nie odnotowano | W 1 chorobie |
| PSEN2presenilin 2 | Nie odnotowano | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nie odnotowano | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Nie odnotowano | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Nie odnotowano | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Nie odnotowano | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Nie odnotowano | W 1 chorobie |
| SOSTsclerostin | Nie odnotowano | W 1 chorobie |
| SPTBN2spectrin beta, non-erythrocytic 2 | Nie odnotowano | W 1 chorobie |
| TSFMTs translation elongation factor, mitochondrial | Nie odnotowano | W 1 chorobie |
| TTC19tetratricopeptide repeat domain 19 | Nie odnotowano | W 1 chorobie |
| VPS37AVPS37A subunit of ESCRT-I | Nie odnotowano | W 1 chorobie |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nie odnotowano | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | 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 2026.10.19-9814e911.
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