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Egenskap
Delayed ability to walk
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Sammendrag
- Også kalt
- Delayed walking
- Kroppssystem
- Abnormality of the nervous system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/delayed-ability-to-walk.json"
page <- fromJSON(url)
page$trait$nameDelayed ability to walkHP:0031936
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Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Delayed ability to walk, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test139 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.
- Intellectual DisabilityReads 67 of these genesCASKCDK10CDK13CHAMP1CSNK2A1DCPSAbout this report →
- Inherited Neurodegenerative DisordersReads 52 of these genesAP4B1AP4S1ATG7CLDN11DARS2GARS1About this report →
- Epilepsy (Full Panel)Reads 26 of these genesAP3B2ATP6V0A1CPLX1FOXG1LGI1LMNB2About this report →
- Congenital Muscular DystrophiesReads 10 of these genesCOL6A2DPM3LARGE1POMKPOMT1COL6A3About this report →
Show 135 more reports
- Hereditary Spastic ParaplegiaReads 14 of these genesAP4B1AP4S1KPNA3PCYT2SPTSSATFGAbout this report →
- Charcot-Marie-Tooth DiseaseReads 15 of these genesGARS1LMNAMARS1MPZSLC5A7TRIM2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 8 of these genesMYT1LSETD5TRA2BTRPM3RNU4-2ZFXAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 8 of these genesCLDN11TMEM163TMEM63APLP1HYCC1POLR1CAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 8 of these genesALS2FUSSIGMAR1SPG11SPTLC1SPTLC2About this report →
- Coffin-Siris SyndromeReads 5 of these genesARID2ARID1BSMARCD1DPF2SOX4About this report →
- Rare Hereditary Peripheral NeuropathiesReads 21 of these genesGARS1LMNAMARS1MPZSLC5A7TFGAbout this report →
- Other Inherited LeukodystrophiesReads 12 of these genesCLDN11DARS2LMNB1TMEM163TMEM63APLP1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 10 of these genesATG7MKS1PMPCARUBCNSLC9A1SYNE1About this report →
- Ehlers-Danlos SyndromeReads 6 of these genesCOL3A1FKBP14PLOD1COL1A1COL1A2COL12A1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 4 of these genesFTH1ATP13A2COASYWDR45About this report →
- Congenital Disorders of GlycosylationReads 11 of these genesDDOSTDPM3PIGOPOMT1SLC37A4COG1About this report →
- Limb-Girdle Muscular DystrophyReads 6 of these genesCOL6A2LMNACOL6A3DAG1LAMA2TNPO3About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 3 of these genesNSD1SNRPNMAGEL2About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesNSD1NFIXAbout this report →
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)Reads 1 of these genesTIMM50About this report →
- Acromelic Frontonasal DysostosisReads 1 of these genesZSWIM6About this report →
- ADCY5-Related DyskinesiaReads 1 of these genesADCY5About this report →
- Angelman SyndromeReads 1 of these genesUBE3AAbout this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Basilicata-Akhtar SyndromeReads 1 of these genesMSL3About this report →
- BRAT1-Related Neurodevelopmental Disorder with Cerebellar AtrophyReads 1 of these genesBRAT1About this report →
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)Reads 1 of these genesH3-3AAbout this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesReads 1 of these genesCWC27About this report →
- DHX30-Related Neurodevelopmental DisorderReads 1 of these genesDHX30About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- Kohlschütter-Tönz SyndromeReads 1 of these genesROGDIAbout this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MCM3AP-Related Peripheral NeuropathyReads 1 of these genesMCM3APAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)Reads 1 of these genesGALNSAbout this report →
- Poirier-Bienvenu Neurodevelopmental SyndromeReads 1 of these genesCSNK2BAbout this report →
- POLR1C-Related DisorderReads 1 of these genesPOLR1CAbout this report →
- POLR2A-Related Neurodevelopmental DisorderReads 1 of these genesPOLR2AAbout this report →
- POLR3B-Related DisorderReads 1 of these genesPOLR3BAbout this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Siddiqi SyndromeReads 1 of these genesFITM2About this report →
- Skraban-Deardorff SyndromeReads 1 of these genesWDR26About this report →
- Snijders Blok-Campeau SyndromeReads 1 of these genesCHD3About this report →
- Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3Reads 1 of these genesEXOC6BAbout this report →
- SPOP-Related Neurodevelopmental Disorder with MacrocephalyReads 1 of these genesSPOPAbout this report →
- TCF20-Related Neurodevelopmental DisorderReads 1 of these genesTCF20About this report →
- TMEM94-Related Intellectual Disability with Heart DefectsReads 1 of these genesTMEM94About this report →
- TRAPPC9-Related Intellectual DisabilityReads 1 of these genesTRAPPC9About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Congenital Myasthenic SyndromeReads 5 of these genesCHRNB1SLC5A7SNAP25MYO9ASLC25A1About this report →
- Congenital MyopathiesReads 4 of these genesCFL2RYR1SELENONTPM2About this report →
- Bartter DiseaseReads 2 of these genesBSNDCLCNKBAbout this report →
- Lissencephaly Spectrum DisordersReads 4 of these genesRAB3GAP1RAB3GAP2MACF1TMTC3About this report →
- Spinal Muscular AtrophyReads 4 of these genesGARS1SLC5A7SIGMAR1DYNC1H1About this report →
- Alagille SyndromeReads 1 of these genesJAG1About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGCPIGOPIGGAbout this report →
- Joubert Syndrome And Related DisordersReads 4 of these genesARL13BINPP5EMKS1AHI1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 3 of these genesRETREG1SPTLC1SPTLC2About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 3 of these genesAMPD2CHMP1ACOASYAbout this report →
- Bardet-Biedl and Alström SyndromesReads 3 of these genesIFT27MKS1ALMS1About this report →
- Syndromic CraniosynostosisReads 3 of these genesKAT6ARNU12MEGF8About this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGATMAbout this report →
- Megalencephalic Leukoencephalopathy with Subcortical CystsReads 1 of these genesGPRC5BAbout this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Lysosomal Storage DiseaseReads 4 of these genesGALNSGNEGNPTABPNPLA2About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesLMNB1About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesTRRAPAbout this report →
- Fanconi Renotubular Syndrome and Renal GlucosuriaReads 1 of these genesGATMAbout this report →
- Hereditary Gastrointestinal Stromal TumourReads 1 of these genesSDHBAbout this report →
- Treacher Collins SyndromeReads 1 of these genesPOLR1CAbout this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesAMNCUBNAbout this report →
- Noonan SyndromeReads 2 of these genesMRASSHOC2About this report →
- Dilated CardiomyopathyReads 3 of these genesLMNASYNE1DOLKAbout this report →
- Hypogonadotropic HypogonadismReads 3 of these genesRAB3GAP2SNRPNMAGEL2About this report →
- Cornelia de Lange SyndromeReads 1 of these genesSMC1AAbout this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesACTN2About this report →
- Vanishing White Matter DiseaseReads 1 of these genesEIF2B4About this report →
- VitreoretinopathyReads 2 of these genesCTNNB1DYNC1H1About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesMRASNSD1SHOC2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesRAB3GAP1RAB3GAP2About this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesNDC1About this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesPHEXAbout this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesABCB7About this report →
- Malignant Endocrine NeoplasmReads 1 of these genesSDHBAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesHK1About this report →
- Osteogenesis ImperfectaReads 2 of these genesCOL1A1COL1A2About this report →
- Primary Mitochondrial DiseaseReads 4 of these genesNDUFA12TRIT1NDUFA1FASTKD2About this report →
- Retinitis PigmentosaReads 3 of these genesIFT140FLVCR1HK1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesITPR1PUM1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesSLC18A2COL6A3About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Autism Spectrum DisorderReads 1 of these genesTBR1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesXYLT1About this report →
- Kidney CancerReads 1 of these genesSDHBAbout this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesDLATAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesSDHBAbout this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 1 of these genesSLC18A2About this report →
- HyperinsulinismReads 1 of these genesHK1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- Urinary and Renal System TumourReads 1 of these genesSDHBAbout this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesATP13A2About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesDYNC1H1About this report →
- Glycogen Storage DiseaseReads 1 of these genesSLC37A4About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesCUL3About this report →
- Parkinson DiseaseReads 1 of these genesATP13A2About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 1 of these genesLSSAbout this report →
- Leigh SyndromeReads 2 of these genesDLATNDUFA1About this report →
- Fanconi AnemiaReads 1 of these genesRAD51About this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- Congenital HypothyroidismReads 1 of these genesTGAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesNMNAT1About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesLSSAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesKARS1SLC12A2About this report →
- Thyroid CancerReads 1 of these genesTGAbout this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesBCL11BAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- DNA Repair DiseaseReads 1 of these genesRAD51About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesBCL11BAbout this report →
Les genene knyttet til Delayed ability to walk, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test366 gener knyttet til Delayed ability to walk
Endringer i disse genene forårsaker sjeldne tilstander der Delayed ability to walk forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Alltid | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Alltid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Alltid | I 2 tilstander |
| AGO1argonaute RISC component 1 | Alltid | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Alltid | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Alltid | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Alltid | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ARL13BARF like GTPase 13B | Alltid | I 1 tilstand |
| ATG5autophagy related 5 | Alltid | I 1 tilstand |
| ATG7autophagy related 7 | Alltid | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Alltid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Alltid | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Alltid | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Alltid | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Alltid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Alltid | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Alltid | I 1 tilstand |
| CFL2cofilin 2 | Alltid | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Alltid | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Alltid | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Alltid | I 1 tilstand |
| CLDN11claudin 11 | Alltid | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Alltid | I 1 tilstand |
| COL4A2collagen type IV alpha 2 chain | Alltid | I 1 tilstand |
| COL6A2collagen type VI alpha 2 chain | Alltid | I 1 tilstand |
| COPB1coat protein complex I subunit beta 1 | Alltid | I 1 tilstand |
| CPLX1complexin 1 | Alltid | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Alltid | I 1 tilstand |
| CUL3cullin 3 | Alltid | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Alltid | I 1 tilstand |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Alltid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Alltid | I 1 tilstand |
| DOCK3dedicator of cytokinesis 3 | Alltid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Alltid | I 1 tilstand |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Alltid | I 1 tilstand |
Vis 326 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| DPYSL5dihydropyrimidinase like 5 | Alltid | I 1 tilstand |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Alltid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Alltid | I 1 tilstand |
| EXOC6Bexocyst complex component 6B | Alltid | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Alltid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tilstand |
| FBXL3F-box and leucine rich repeat protein 3 | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FITM2fat storage inducing transmembrane protein 2 | Alltid | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 1 tilstand |
| FOXG1forkhead box G1 | Alltid | I 1 tilstand |
| FOXP1forkhead box P1 | Alltid | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Alltid | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| GATMglycine amidinotransferase | Alltid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Alltid | I 1 tilstand |
| GNAI1G protein subunit alpha i1 | Alltid | I 1 tilstand |
| GTF2H4general transcription factor IIH subunit 4 | Alltid | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Alltid | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Alltid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| IFT27intraflagellar transport 27 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 2 tilstander |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| JPH1junctophilin 1 | Alltid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Alltid | I 1 tilstand |
| KLHL15kelch like family member 15 | Alltid | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Alltid | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Alltid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 1 tilstand |
| LMNB1lamin B1 | Alltid | I 1 tilstand |
| LMNB2lamin B2 | Alltid | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Alltid | I 1 tilstand |
| MAN2B2mannosidase alpha class 2B member 2 | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Alltid | I 2 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Alltid | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Alltid | I 1 tilstand |
| MPZmyelin protein zero | Alltid | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Alltid | I 1 tilstand |
| MRPS14mitochondrial ribosomal protein S14 | Alltid | I 1 tilstand |
| MRPS25mitochondrial ribosomal protein S25 | Alltid | I 1 tilstand |
| MSL3MSL complex subunit 3 | Alltid | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Alltid | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| NCDNneurochondrin | Alltid | I 1 tilstand |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Alltid | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Alltid | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Alltid | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alltid | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Alltid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 1 tilstand |
| NUDT2nudix hydrolase 2 | Alltid | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Alltid | I 1 tilstand |
| OTUD7AOTU deubiquitinase 7A | Alltid | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Alltid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Alltid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alltid | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Alltid | I 2 tilstander |
| PIGCphosphatidylinositol glycan anchor biosynthesis class C | Alltid | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Alltid | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alltid | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Alltid | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| POMKprotein O-mannose kinase | Alltid | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Alltid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Alltid | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Alltid | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Alltid | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Alltid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 1 tilstand |
| RAD51RAD51 recombinase | Alltid | I 1 tilstand |
| RBL2RB transcriptional corepressor like 2 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Alltid | I 1 tilstand |
| RNU6ATACRNA, U6atac small nuclear | Alltid | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Alltid | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Alltid | I 1 tilstand |
| RYR1ryanodine receptor 1 | Alltid | I 2 tilstander |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alltid | I 1 tilstand |
| SETD5SET domain containing 5 | Alltid | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Alltid | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Alltid | I 1 tilstand |
| SKOR2SKI family transcriptional corepressor 2 | Alltid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Alltid | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Alltid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Alltid | I 1 tilstand |
| SLC9A1solute carrier family 9 member A1 | Alltid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 1 tilstand |
| SNAP25synaptosome associated protein 25 | Alltid | I 1 tilstand |
| SONSON DNA and RNA binding protein | Alltid | I 1 tilstand |
| SPTSSAserine palmitoyltransferase small subunit A | Alltid | I 2 tilstander |
| SRCAPSnf2 related CREBBP activator protein | Alltid | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Alltid | I 2 tilstander |
| SYT1synaptotagmin 1 | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TCF20transcription factor 20 | Alltid | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Alltid | I 1 tilstand |
| TGthyroglobulin | Alltid | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Alltid | I 2 tilstander |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| TMEM147transmembrane protein 147 | Alltid | I 1 tilstand |
| TMEM163transmembrane protein 163 | Alltid | I 1 tilstand |
| TMEM222transmembrane protein 222 | Alltid | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Alltid | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Alltid | I 1 tilstand |
| TRAPPC10trafficking protein particle complex subunit 10 | Alltid | I 1 tilstand |
| TRIM2tripartite motif containing 2 | Alltid | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Alltid | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Alltid | I 2 tilstander |
| TRIT1tRNA isopentenyltransferase 1 | Alltid | I 1 tilstand |
| TRMT1tRNA methyltransferase 1 | Alltid | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Alltid | I 1 tilstand |
| TTI2TELO2 interacting protein 2 | Alltid | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Alltid | I 2 tilstander |
| UNC13Aunc-13 homolog A | Alltid | I 2 tilstander |
| VLDLRvery low density lipoprotein receptor | Alltid | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Alltid | I 1 tilstand |
| WASF1WASP family member 1 | Alltid | I 1 tilstand |
| WASHC4WASH complex subunit 4 | Alltid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZNF148zinc finger protein 148 | Alltid | I 1 tilstand |
| ZNF407zinc finger protein 407 | Alltid | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Svært ofte (80–99 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ARID1BAT-rich interaction domain 1B | Svært ofte (80–99 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Svært ofte (80–99 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Svært ofte (80–99 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Svært ofte (80–99 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Svært ofte (80–99 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Svært ofte (80–99 %) | I 1 tilstand |
| NAV3neuron navigator 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Svært ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Svært ofte (80–99 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Svært ofte (80–99 %) | I 2 tilstander |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Svært ofte (80–99 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Svært ofte (80–99 %) | I 1 tilstand |
| TTI1TELO2 interacting protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Svært ofte (80–99 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Svært ofte (80–99 %) | I 1 tilstand |
| ADGRL1adhesion G protein-coupled receptor L1 | Ofte (30–79 %) | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofte (30–79 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ofte (30–79 %) | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP10AATPase phospholipid transporting 10A (putative) | Ofte (30–79 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Ofte (30–79 %) | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ofte (30–79 %) | I 1 tilstand |
| CCDC134coiled-coil domain containing 134 | Ofte (30–79 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ofte (30–79 %) | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ofte (30–79 %) | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ofte (30–79 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ofte (30–79 %) | I 1 tilstand |
| COASYCoenzyme A synthase | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| CRBNcereblon | Ofte (30–79 %) | I 1 tilstand |
| CSNK2Bcasein kinase 2 beta | Ofte (30–79 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Ofte (30–79 %) | I 1 tilstand |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Ofte (30–79 %) | I 1 tilstand |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Ofte (30–79 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Ofte (30–79 %) | I 1 tilstand |
| FBLN1fibulin 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Ofte (30–79 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Ofte (30–79 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 2 tilstander |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Ofte (30–79 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Ofte (30–79 %) | I 1 tilstand |
| KPTNkaptin, actin binding protein | Ofte (30–79 %) | I 1 tilstand |
| LBRlamin B receptor | Ofte (30–79 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MCM3APminichromosome maintenance complex component 3 associated protein | Ofte (30–79 %) | I 1 tilstand |
| NBEAneurobeachin | Ofte (30–79 %) | I 1 tilstand |
| NCAPG2non-SMC condensin II complex subunit G2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Ofte (30–79 %) | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Ofte (30–79 %) | I 1 tilstand |
| RALARAS like proto-oncogene A | Ofte (30–79 %) | I 1 tilstand |
| RETREG1reticulophagy regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 1 tilstand |
| RYR3ryanodine receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| SEMA6Bsemaphorin 6B | Ofte (30–79 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 2 tilstander |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Ofte (30–79 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Ofte (30–79 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Ofte (30–79 %) | I 2 tilstander |
| WDR45WD repeat domain 45 | Ofte (30–79 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Ofte (30–79 %) | I 1 tilstand |
| YY1YY1 transcription factor | Ofte (30–79 %) | I 1 tilstand |
| ZBTB11zinc finger and BTB domain containing 11 | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 2 tilstander |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| AMNamnion associated transmembrane protein | Noen ganger (5–29 %) | I 1 tilstand |
| CADM3cell adhesion molecule 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CUBNcubilin | Noen ganger (5–29 %) | I 1 tilstand |
| DOLKdolichol kinase | Noen ganger (5–29 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTPAPmitochondrial poly(A) polymerase | Noen ganger (5–29 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RTN2reticulon 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Noen ganger (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Sjelden (1–4%) | I 1 tilstand |
| ACTN2actinin alpha 2 | Ikke registrert | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ikke registrert | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Ikke registrert | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ikke registrert | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ikke registrert | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registrert | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Ikke registrert | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registrert | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| DHX30DExH-box helicase 30 | Ikke registrert | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Ikke registrert | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registrert | I 1 tilstand |
| EBF3EBF transcription factor 3 | Ikke registrert | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Ikke registrert | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registrert | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registrert | I 1 tilstand |
| KDM5Blysine demethylase 5B | Ikke registrert | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registrert | I 1 tilstand |
| LSSlanosterol synthase | Ikke registrert | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registrert | I 1 tilstand |
| MYO9Amyosin IXA | Ikke registrert | I 1 tilstand |
| NFASCneurofascin | Ikke registrert | I 1 tilstand |
| PAK1p21 (RAC1) activated kinase 1 | Ikke registrert | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registrert | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Ikke registrert | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ikke registrert | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ikke registrert | I 1 tilstand |
| SETSET nuclear proto-oncogene | Ikke registrert | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Ikke registrert | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ikke registrert | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registrert | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Ikke registrert | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registrert | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ikke registrert | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Ikke registrert | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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