AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Piirre
Wide mouth
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Yhteenveto
- Tunnetaan myös nimellä
- Broad mouth, Large mouth, Large oral aperture, Macrostomia
- Elimistön järjestelmä
- Abnormality of head or neck
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
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Tämä sivu datana
Lisää sivun osoitteen perään .json tai pyydä application/json-muotoa, niin saat sivun JSON-muodossa.
library(jsonlite)
url <- "https://dantelabs.com/traits/wide-mouth.json"
page <- fromJSON(url)
page$trait$nameWide mouthHP:0000154
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Lue Wide mouth-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test89 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 51 of these genesAHDC1ARID1AAUTS2KDM6BKLHL15MBD5About this report →
- Coffin-Siris SyndromeReads 11 of these genesARID1AARID2SMARCB1SOX4ARID1BDPF2About this report →
- Treacher Collins SyndromeReads 4 of these genesPOLR1BPOLR1CPOLR1DTCOF1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 9 of these genesMYT1LPAN2TRA2BQRICH1TRPM3ZFXAbout this report →
Show 85 more reports
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCB1SMARCA4SMARCE1About this report →
- Cantú SyndromeReads 2 of these genesABCC9KCNJ8About this report →
- Noonan SyndromeReads 6 of these genesSOS1LZTR1MAPK1RAF1SPRED2MAP2K1About this report →
- Epilepsy (Full Panel)Reads 15 of these genesCDK19STRADAACTL6BATP6V1B2KCNMA1PACS2About this report →
- Purine & Pyrimidine Metabolism DisordersReads 3 of these genesPRPS1DPYDADSLAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 2 of these genesSOX11TRRAPAbout this report →
- NeurofibromatosisReads 2 of these genesSMARCB1LZTR1About this report →
- Acromelic Frontonasal DysostosisReads 1 of these genesZSWIM6About this report →
- Angelman SyndromeReads 1 of these genesUBE3AAbout this report →
- Birt-Hogg-Dubé SyndromeReads 1 of these genesFLCNAbout this report →
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)Reads 1 of these genesH3-3AAbout this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- FOXP2-Related Speech and Language DisorderReads 1 of these genesFOXP2About this report →
- Frank-Ter Haar SyndromeReads 1 of these genesSH3PXD2BAbout this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)Reads 1 of these genesGALNSAbout this report →
- POLR1C-Related DisorderReads 1 of these genesPOLR1CAbout this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Raine SyndromeReads 1 of these genesFAM20CAbout this report →
- Schizophrenia PanelReads 1 of these genesNRXN1About this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Skraban-Deardorff SyndromeReads 1 of these genesWDR26About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- Warsaw Breakage SyndromeReads 1 of these genesDDX11About this report →
- GPI Anchor Biosynthesis DefectsReads 4 of these genesPGAP2PIGNPIGBPIGLAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 2 of these genesMTORPIK3CAAbout this report →
- Lissencephaly Spectrum DisordersReads 4 of these genesACTBACTG1KATNB1PSPHAbout this report →
- Congenital Disorders of GlycosylationReads 8 of these genesSSR4PGAP2PIGNPMM2ALG9B3GLCTAbout this report →
- Lysosomal Storage DiseaseReads 6 of these genesGNSGNPTABIDUAAGAGALNSGLB1About this report →
- Hypertrophic CardiomyopathyReads 6 of these genesSOS1LZTR1MAPK1RAF1SPRED2MAP2K1About this report →
- DOORS SyndromeReads 1 of these genesATP6V1B2About this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- Meckel SyndromeReads 2 of these genesMKS1TMEM67About this report →
- Hereditary Spastic ParaplegiaReads 5 of these genesERLIN2AP4B1AP4E1AP4M1AP4S1About this report →
- HyperinsulinismReads 2 of these genesPMM2INSRAbout this report →
- Polycystic Kidney DiseaseReads 2 of these genesIFT140ALG9About this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesKMT2BACTBSLC2A1About this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesGNSAbout this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesKIF7MKS1TMEM67About this report →
- Inherited Neurodegenerative DisordersReads 9 of these genesERLIN2AP4B1AP4E1AP4M1AP4S1POLR1CAbout this report →
- Syndromic CraniosynostosisReads 2 of these genesKAT6ARNU12About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesKCNK3About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesAGAAbout this report →
- Left Ventricular NoncompactionReads 1 of these genesMIPEPAbout this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPSPHAbout this report →
- Oculocutaneous AlbinismReads 1 of these genesOCA2About this report →
- Inherited ThrombocytopeniasReads 2 of these genesACTBCDC42About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesPOLA1SKIC3About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesKMT2BAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesSNRPNAbout this report →
- Kidney CancerReads 1 of these genesFLCNAbout this report →
- Hearing Loss and DeafnessReads 3 of these genesPRPS1SLC12A2ACTG1About this report →
- Type I InterferonopathiesReads 1 of these genesPOLA1About this report →
- Urinary and Renal System TumourReads 1 of these genesFLCNAbout this report →
- Dilated CardiomyopathyReads 2 of these genesABCC9RAF1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesMKS1TMEM67About this report →
- Primary Mitochondrial DiseaseReads 3 of these genesDNAJC30TMEM70MIPEPAbout this report →
- Cutis LaxaReads 1 of these genesELNAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesTMEM67About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesNMNAT1About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesMKS1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR1CAbout this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Primary Ciliary DyskinesiaReads 1 of these genesCENPFAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesSNRPNAbout this report →
- Other Inborn Errors of ImmunityReads 2 of these genesNCF1SKIC3About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesPRPS1About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPOLR1CAbout this report →
- Retinitis PigmentosaReads 1 of these genesIFT140About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesPRPS1About this report →
Lue Wide mouth-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test236 geeniä, jotka liittyvät piirteeseen Wide mouth
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Wide mouth esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Aina | 1 sairaudessa |
| ARID1AAT-rich interaction domain 1A | Aina | 2 sairaudessa |
| ARID2AT-rich interaction domain 2 | Aina | 2 sairaudessa |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Aina | 2 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Aina | 1 sairaudessa |
| AUTS2activator of transcription and developmental regulator AUTS2 | Aina | 1 sairaudessa |
| CDK19cyclin dependent kinase 19 | Aina | 1 sairaudessa |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Aina | 1 sairaudessa |
| DDX11DEAD/H-box helicase 11 | Aina | 1 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Aina | 1 sairaudessa |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Aina | 1 sairaudessa |
| H4C11H4 clustered histone 11 | Aina | 1 sairaudessa |
| H4C3H4 clustered histone 3 | Aina | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Aina | 1 sairaudessa |
| INTS11integrator complex subunit 11 | Aina | 1 sairaudessa |
| IRX5iroquois homeobox 5 | Aina | 1 sairaudessa |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Aina | 4 sairaudessa |
| KCNK3potassium two pore domain channel subfamily K member 3 | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| KIF15kinesin family member 15 | Aina | 1 sairaudessa |
| KLHL15kelch like family member 15 | Aina | 1 sairaudessa |
| KMT2Blysine methyltransferase 2B | Aina | 1 sairaudessa |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Aina | 2 sairaudessa |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Aina | 1 sairaudessa |
| MBD5methyl-CpG binding domain protein 5 | Aina | 1 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Aina | 2 sairaudessa |
| MYT1Lmyelin transcription factor 1 like | Aina | 1 sairaudessa |
| NAV3neuron navigator 3 | Aina | 1 sairaudessa |
| NONOnon-POU domain containing octamer binding | Aina | 2 sairaudessa |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Aina | 1 sairaudessa |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Aina | 1 sairaudessa |
| PPFIA3PPFI scaffold protein A3 | Aina | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Aina | 1 sairaudessa |
| RNF113Aring finger protein 113A | Aina | 1 sairaudessa |
| SEC23ASEC23 homolog A, COPII component | Aina | 2 sairaudessa |
| SH3PXD2BSH3 and PX domains 2B | Aina | 2 sairaudessa |
| SLC12A2solute carrier family 12 member 2 | Aina | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Aina | 2 sairaudessa |
| SNIP1Smad nuclear interacting protein 1 | Aina | 1 sairaudessa |
Näytä 196 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| SOX4SRY-box transcription factor 4 | Aina | 2 sairaudessa |
| STRADASTE20 related adaptor alpha | Aina | 2 sairaudessa |
| TCF4transcription factor 4 | Aina | 2 sairaudessa |
| TOP2BDNA topoisomerase II beta | Aina | 1 sairaudessa |
| TRA2Btransformer 2 beta homolog | Aina | 1 sairaudessa |
| TWIST2twist family bHLH transcription factor 2 | Aina | 4 sairaudessa |
| WLSWnt ligand secretion mediator | Aina | 1 sairaudessa |
| ABCC9ATP binding cassette subfamily C member 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| ACTBactin beta | Hyvin usein (80–99%) | 3 sairaudessa |
| ACTG1actin gamma 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Hyvin usein (80–99%) | 2 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Hyvin usein (80–99%) | 1 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CUL4Bcullin 4B | Hyvin usein (80–99%) | 2 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Hyvin usein (80–99%) | 1 sairaudessa |
| DPF2double PHD fingers 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Hyvin usein (80–99%) | 1 sairaudessa |
| ELNelastin | Hyvin usein (80–99%) | 1 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Hyvin usein (80–99%) | 1 sairaudessa |
| GPC3glypican 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| GPC4glypican 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2Igeneral transcription factor IIi | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2IRD1GTF2I repeat domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| LIMK1LIM domain kinase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| METTL27methyltransferase like 27 | Hyvin usein (80–99%) | 1 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NXNnucleoredoxin | Hyvin usein (80–99%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| QRICH1glutamine rich 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RFC2replication factor C subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ROR2ROR family WNT receptor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SOX11SRY-box transcription factor 11 | Hyvin usein (80–99%) | 1 sairaudessa |
| SRCAPSnf2 related CREBBP activator protein | Hyvin usein (80–99%) | 3 sairaudessa |
| SSR4signal sequence receptor subunit 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| STX1Asyntaxin 1A | Hyvin usein (80–99%) | 1 sairaudessa |
| TBL2transducin beta like 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMCO1transmembrane and coiled-coil domains 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM270transmembrane protein 270 | Hyvin usein (80–99%) | 1 sairaudessa |
| UBE2Aubiquitin conjugating enzyme E2 A | Hyvin usein (80–99%) | 2 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Hyvin usein (80–99%) | 1 sairaudessa |
| ACTL6Bactin like 6B | Usein (30–79%) | 1 sairaudessa |
| AFF3ALF transcription elongation factor 3 | Usein (30–79%) | 1 sairaudessa |
| ANKRD11ankyrin repeat domain 11 | Usein (30–79%) | 1 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Usein (30–79%) | 1 sairaudessa |
| CCDC47coiled-coil domain containing 47 | Usein (30–79%) | 1 sairaudessa |
| DHCR77-dehydrocholesterol reductase | Usein (30–79%) | 1 sairaudessa |
| DYMdymeclin | Usein (30–79%) | 1 sairaudessa |
| ERLIN2ER lipid raft associated 2 | Usein (30–79%) | 2 sairaudessa |
| EXOSC5exosome component 5 | Usein (30–79%) | 1 sairaudessa |
| FEM1Bfem-1 homolog B | Usein (30–79%) | 1 sairaudessa |
| GATAD2BGATA zinc finger domain containing 2B | Usein (30–79%) | 2 sairaudessa |
| GNSglucosamine (N-acetyl)-6-sulfatase | Usein (30–79%) | 1 sairaudessa |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Usein (30–79%) | 1 sairaudessa |
| KAT5lysine acetyltransferase 5 | Usein (30–79%) | 1 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Usein (30–79%) | 1 sairaudessa |
| KCNK4potassium two pore domain channel subfamily K member 4 | Usein (30–79%) | 1 sairaudessa |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Usein (30–79%) | 1 sairaudessa |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Usein (30–79%) | 1 sairaudessa |
| KDM3Blysine demethylase 3B | Usein (30–79%) | 1 sairaudessa |
| MED12mediator complex subunit 12 | Usein (30–79%) | 2 sairaudessa |
| MED13Lmediator complex subunit 13L | Usein (30–79%) | 2 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Usein (30–79%) | 1 sairaudessa |
| PACS2phosphofurin acidic cluster sorting protein 2 | Usein (30–79%) | 1 sairaudessa |
| PGAP2post-GPI attachment to proteins 2 | Usein (30–79%) | 1 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Usein (30–79%) | 2 sairaudessa |
| PMM2phosphomannomutase 2 | Usein (30–79%) | 1 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Usein (30–79%) | 1 sairaudessa |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Usein (30–79%) | 1 sairaudessa |
| PTDSS1phosphatidylserine synthase 1 | Usein (30–79%) | 1 sairaudessa |
| RNF2ring finger protein 2 | Usein (30–79%) | 1 sairaudessa |
| RNU12RNA, U12 small nuclear | Usein (30–79%) | 1 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Usein (30–79%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Usein (30–79%) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| SF3B4splicing factor 3b subunit 4 | Usein (30–79%) | 2 sairaudessa |
| STAG1STAG1 cohesin complex component | Usein (30–79%) | 2 sairaudessa |
| TASP1taspase 1 | Usein (30–79%) | 1 sairaudessa |
| TMEM147transmembrane protein 147 | Usein (30–79%) | 1 sairaudessa |
| TMEM70transmembrane protein 70 | Usein (30–79%) | 1 sairaudessa |
| TRIP12thyroid hormone receptor interactor 12 | Usein (30–79%) | 1 sairaudessa |
| UBE3Aubiquitin protein ligase E3A | Usein (30–79%) | 5 sairaudessa |
| UBE3Bubiquitin protein ligase E3B | Usein (30–79%) | 1 sairaudessa |
| WDR26WD repeat domain 26 | Usein (30–79%) | 1 sairaudessa |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Usein (30–79%) | 1 sairaudessa |
| ADAT3adenosine deaminase tRNA specific 3 | Joskus (5–29%) | 1 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Joskus (5–29%) | 1 sairaudessa |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Joskus (5–29%) | 2 sairaudessa |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Joskus (5–29%) | 2 sairaudessa |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Joskus (5–29%) | 2 sairaudessa |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Joskus (5–29%) | 2 sairaudessa |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Joskus (5–29%) | 2 sairaudessa |
| ATP10AATPase phospholipid transporting 10A (putative) | Joskus (5–29%) | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Joskus (5–29%) | 1 sairaudessa |
| CDC42cell division cycle 42 | Joskus (5–29%) | 2 sairaudessa |
| CDC42BPBCDC42 binding protein kinase beta | Joskus (5–29%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Joskus (5–29%) | 1 sairaudessa |
| DACT1dishevelled binding antagonist of beta catenin 1 | Joskus (5–29%) | 1 sairaudessa |
| DDB1damage specific DNA binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Joskus (5–29%) | 1 sairaudessa |
| FAM20CFAM20C golgi associated secretory pathway kinase | Joskus (5–29%) | 1 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| FOXP2forkhead box P2 | Joskus (5–29%) | 1 sairaudessa |
| GNB2G protein subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| HDAC6histone deacetylase 6 | Joskus (5–29%) | 1 sairaudessa |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Joskus (5–29%) | 1 sairaudessa |
| HIVEP2HIVEP zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Joskus (5–29%) | 1 sairaudessa |
| IDUAalpha-L-iduronidase | Joskus (5–29%) | 1 sairaudessa |
| KATNB1katanin regulatory subunit B1 | Joskus (5–29%) | 1 sairaudessa |
| LZTR1leucine zipper like post translational regulator 1 | Joskus (5–29%) | 1 sairaudessa |
| MAPK1mitogen-activated protein kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Joskus (5–29%) | 1 sairaudessa |
| MIPEPmitochondrial intermediate peptidase | Joskus (5–29%) | 1 sairaudessa |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Joskus (5–29%) | 1 sairaudessa |
| PACS1phosphofurin acidic cluster sorting protein 1 | Joskus (5–29%) | 2 sairaudessa |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Joskus (5–29%) | 2 sairaudessa |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Joskus (5–29%) | 1 sairaudessa |
| POLA1DNA polymerase alpha 1, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| POLR1BRNA polymerase I subunit B | Joskus (5–29%) | 1 sairaudessa |
| POLR1CRNA polymerase I and III subunit C | Joskus (5–29%) | 1 sairaudessa |
| POLR1DRNA polymerase I and III subunit D | Joskus (5–29%) | 1 sairaudessa |
| PSPHphosphoserine phosphatase | Joskus (5–29%) | 1 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Joskus (5–29%) | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Joskus (5–29%) | 2 sairaudessa |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| RNF125ring finger protein 125 | Joskus (5–29%) | 1 sairaudessa |
| SALL1spalt like transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| SETSET nuclear proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Joskus (5–29%) | 2 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Joskus (5–29%) | 2 sairaudessa |
| TCOF1treacle ribosome biogenesis factor 1 | Joskus (5–29%) | 2 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Joskus (5–29%) | 1 sairaudessa |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Joskus (5–29%) | 1 sairaudessa |
| TSHZ3teashirt zinc finger homeobox 3 | Joskus (5–29%) | 1 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | Joskus (5–29%) | 1 sairaudessa |
| ZFXzinc finger protein X-linked | Joskus (5–29%) | 1 sairaudessa |
| ZMYND11zinc finger MYND-type containing 11 | Joskus (5–29%) | 1 sairaudessa |
| ZNF148zinc finger protein 148 | Joskus (5–29%) | 1 sairaudessa |
| ZNF526zinc finger protein 526 | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
| ZSWIM6zinc finger SWIM-type containing 6 | Joskus (5–29%) | 1 sairaudessa |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CHD2chromodomain helicase DNA binding protein 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| H3-3AH3.3 histone A | Harvinainen (1–4 %) | 1 sairaudessa |
| KIF7kinesin family member 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| NEXMIFneurite extension and migration factor | Harvinainen (1–4 %) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC6A1solute carrier family 6 member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ADAMTSL2ADAMTS like 2 | Ei kirjattu | 1 sairaudessa |
| ADSLadenylosuccinate lyase | Ei kirjattu | 1 sairaudessa |
| AGAaspartylglucosaminidase | Ei kirjattu | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ei kirjattu | 1 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Ei kirjattu | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Ei kirjattu | 1 sairaudessa |
| CD96CD96 molecule | Ei kirjattu | 1 sairaudessa |
| CENPFcentromere protein F | Ei kirjattu | 1 sairaudessa |
| FLCNfolliculin | Ei kirjattu | 1 sairaudessa |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ei kirjattu | 1 sairaudessa |
| GLB1galactosidase beta 1 | Ei kirjattu | 1 sairaudessa |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ei kirjattu | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ei kirjattu | 1 sairaudessa |
| INSRinsulin receptor | Ei kirjattu | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ei kirjattu | 1 sairaudessa |
| MED13mediator complex subunit 13 | Ei kirjattu | 1 sairaudessa |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ei kirjattu | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Ei kirjattu | 1 sairaudessa |
| NALCNsodium leak channel, non-selective | Ei kirjattu | 1 sairaudessa |
| NRXN1neurexin 1 | Ei kirjattu | 1 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ei kirjattu | 1 sairaudessa |
| SF3B2splicing factor 3b subunit 2 | Ei kirjattu | 1 sairaudessa |
| SKIC3SKI3 subunit of superkiller complex | Ei kirjattu | 1 sairaudessa |
| TALDO1transaldolase 1 | Ei kirjattu | 1 sairaudessa |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ei kirjattu | 1 sairaudessa |
| TMEM67transmembrane protein 67 | Ei kirjattu | 1 sairaudessa |
| TRRAPtransformation/transcription domain associated protein | Ei kirjattu | 1 sairaudessa |
| WDR73WD repeat domain 73 | Ei kirjattu | 1 sairaudessa |
| ZMIZ1zinc finger MIZ-type containing 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.19-9814e911.
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