AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Piirre
Prominent forehead
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Yhteenveto
- Tunnetaan myös nimellä
- Bulging forehead, Pronounced forehead, Protruding forehead, Prominence of frontal region
- Elimistön järjestelmä
- Abnormality of head or neck
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
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/prominent-forehead.json"
page <- fromJSON(url)
page$trait$nameProminent foreheadHP:0011220
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Lue Prominent forehead-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test145 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 42 of these genesCREBBPDYNC1H1EP300FOXP1PUF60RPS6KA3About this report →
- Noonan SyndromeReads 10 of these genesBRAFSHOC2KRASMAP2K1MAP2K2PPP1CBAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 6 of these genesCDKN1CHMGA2IGF2NSD1PLAG1H19About this report →
- Hypertrophic CardiomyopathyReads 14 of these genesBRAFCDKN1CIGF2NSD1SHOC2H19About this report →
Show 141 more reports
- Syndromic CraniosynostosisReads 8 of these genesFGFR2FGFR3SKITWIST1FGFR1MEGF8About this report →
- Cutis LaxaReads 5 of these genesALDH18A1PYCR1ELNFBLN5EFEMP2About this report →
- Ectodermal DysplasiasReads 5 of these genesEDAEDAREDARADDKDF1GJB6About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 6 of these genesGLI2HESX1LHX3LHX4POU1F1PROP1About this report →
- Achondrogenesis panelReads 2 of these genesCOL2A1TRIP11About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesNFIXNSD1About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 2 of these genesPDE4DPRKAR1AAbout this report →
- Acromelic Frontonasal DysostosisReads 1 of these genesZSWIM6About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)Reads 1 of these genesH3-3AAbout this report →
- CDH2-Related ACOGSReads 1 of these genesCDH2About this report →
- CEBALID Syndrome (MN1)Reads 1 of these genesMN1About this report →
- Cenani-Lenz Syndactyly SyndromeReads 1 of these genesLRP4About this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
- DPH1-Related Developmental Delay with Short StatureReads 1 of these genesDPH1About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- FAM111A-Related Skeletal DysplasiaReads 1 of these genesFAM111AAbout this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- Frank-Ter Haar SyndromeReads 1 of these genesSH3PXD2BAbout this report →
- Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)Reads 1 of these genesALX4About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Intracranial Berry AneurysmReads 1 of these genesTHSD1About this report →
- JARID2-Related Neurodevelopmental DisorderReads 1 of these genesJARID2About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- KIDINS220-Related Ventriculomegaly and ArthrogryposisReads 1 of these genesKIDINS220About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- Mucopolysaccharidosis-Plus SyndromeReads 1 of these genesVPS33AAbout this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Prolidase DeficiencyReads 1 of these genesPEPDAbout this report →
- Saul-Wilson SyndromeReads 1 of these genesCOG4About this report →
- Snijders Blok-Campeau SyndromeReads 1 of these genesCHD3About this report →
- Spondyloepimetaphyseal Dysplasia, Genevieve TypeReads 1 of these genesNANSAbout this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- Spondyloepiphyseal Dysplasia, Kondo-Fu TypeReads 1 of these genesMBTPS1About this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 2 of these genesMTORCCND2About this report →
- Epilepsy (Full Panel)Reads 12 of these genesFLNAACTL6BCDKL5ARXUPF3BZNF711About this report →
- Hypogonadotropic HypogonadismReads 6 of these genesFGFR1HESX1LHX3LHX4POU1F1PROP1About this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 2 of these genesSTAT5BIGF1About this report →
- Congenital Disorders of GlycosylationReads 8 of these genesB3GALT6COG4GNEB3GLCTPIGLPMM2About this report →
- VitreoretinopathyReads 4 of these genesCOL18A1DYNC1H1COL2A1CTNNB1About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 2 of these genesFUCA1MAN2B1About this report →
- Hyper-IgE SyndromeReads 2 of these genesIL6STSTAT3About this report →
- Hypodontia and AnodontiaReads 2 of these genesEDALRP6About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 3 of these genesFAT4THSD1KIF11About this report →
- Purine & Pyrimidine Metabolism DisordersReads 2 of these genesPRPS1DPYDAbout this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Cantú SyndromeReads 1 of these genesABCC9About this report →
- Cleidocranial DysplasiaReads 1 of these genesCBFBAbout this report →
- Congenital Intestinal Atresia & Short BowelReads 1 of these genesTTC7AAbout this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesALX4About this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Kabuki SyndromeReads 1 of these genesKMT2DAbout this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT3About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Osteogenesis ImperfectaReads 4 of these genesPOLR3APYCR1SERPINH1SP7About this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesGPAA1PIGLPIGKAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 2 of these genesFOXC1PITX2About this report →
- Lysosomal Storage DiseaseReads 5 of these genesFUCA1GNEGNSMAN2B1SUMF1About this report →
- Marfan Like SyndromesReads 2 of these genesFBN1SKIAbout this report →
- Other Inborn Errors of ImmunityReads 9 of these genesIL2RAIL6STSKIC3PIK3R1KRASRMRPAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 9 of these genesDYNC1H1PEX1PRPS1IARS2FBLN5FBXL4About this report →
- Coffin-Siris SyndromeReads 2 of these genesARID2DPF2About this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Inherited Neurodegenerative DisordersReads 11 of these genesALDH18A1DYNC1H1NALCNPEX1POLR3AKIDINS220About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesFLNAELNAbout this report →
- OsteopetrosisReads 2 of these genesAMER1CA2About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 2 of these genesPEX1PEX5About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesDYNC1H1APC2About this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 1 of these genesPRKAR1AAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesTRRAPAbout this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesGNSAbout this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesFAM149B1INPP5EKIF7About this report →
- Bartter DiseaseReads 1 of these genesKCNJ1About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesCEP57About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Autoimmune DiseaseReads 2 of these genesKRASSTAT3About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesAPC2ARXAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesZFXAP1S2About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Basal Ganglia CalcificationReads 1 of these genesPDGFRBAbout this report →
- IPEX Syndrome and Other TregopathiesReads 1 of these genesIL2RAAbout this report →
- Diabetes MellitusReads 2 of these genesIL2RAZBTB20About this report →
- GlaucomaReads 1 of these genesFOXC1About this report →
- Inherited ThrombocytopeniasReads 2 of these genesGNECDC42About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesSKIC3SKIC2About this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesDYNC1H1PRPS1FBLN5About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 2 of these genesGJB2GJB6About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesPEX1POLR3APEX5About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesTAF1SLC2A1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL2A1About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesPLA2G6About this report →
- Hearing Loss and DeafnessReads 3 of these genesPRPS1GJB2GJB6About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesCDH2About this report →
- HyperinsulinismReads 1 of these genesPMM2About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Dilated CardiomyopathyReads 2 of these genesRAF1ABCC9About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Parkinson DiseaseReads 1 of these genesPLA2G6About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesCPT2About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesALDH18A1KIDINS220About this report →
- Leigh SyndromeReads 2 of these genesFBXL4LRPPRCAbout this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- Epidermolysis BullosaReads 1 of these genesITGA3About this report →
- Congenital MyopathiesReads 1 of these genesRYR1About this report →
- Neonatal Diabetes MellitusReads 1 of these genesIL2RAAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesB3GALT6About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesLRP4About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesMAB21L2About this report →
- Spinal Muscular AtrophyReads 1 of these genesDYNC1H1About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesPRKDCAbout this report →
- Primary Mitochondrial DiseaseReads 2 of these genesFBXL4LRPPRCAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesSNX14About this report →
- Retinitis PigmentosaReads 1 of these genesIFT140About this report →
Lue Prominent forehead-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test283 geeniä, jotka liittyvät piirteeseen Prominent forehead
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Prominent forehead 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 |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Aina | 3 sairaudessa |
| ARID2AT-rich interaction domain 2 | Aina | 1 sairaudessa |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Aina | 1 sairaudessa |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Aina | 2 sairaudessa |
| B3GALT6beta-1,3-galactosyltransferase 6 | Aina | 2 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Aina | 3 sairaudessa |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Aina | 2 sairaudessa |
| CEP57centrosomal protein 57 | Aina | 1 sairaudessa |
| COG4component of oligomeric golgi complex 4 | Aina | 1 sairaudessa |
| COL18A1collagen type XVIII alpha 1 chain | Aina | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Aina | 3 sairaudessa |
| DPH1diphthamide biosynthesis 1 | Aina | 2 sairaudessa |
| DPH2diphthamide biosynthesis 2 | Aina | 2 sairaudessa |
| DRG1developmentally regulated GTP binding protein 1 | Aina | 1 sairaudessa |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Aina | 1 sairaudessa |
| EDAectodysplasin A | Aina | 1 sairaudessa |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Aina | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Aina | 2 sairaudessa |
| EXOSC2exosome component 2 | Aina | 1 sairaudessa |
| FAM111AFAM111 trypsin like peptidase A | Aina | 3 sairaudessa |
| FAT4FAT atypical cadherin 4 | Aina | 1 sairaudessa |
| FBN1fibrillin 1 | Aina | 1 sairaudessa |
| FEM1Bfem-1 homolog B | Aina | 1 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Aina | 2 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Aina | 2 sairaudessa |
| FLNAfilamin A | Aina | 3 sairaudessa |
| FOXP1forkhead box P1 | Aina | 2 sairaudessa |
| GOLGA2golgin A2 | Aina | 1 sairaudessa |
| HMGA2high mobility group AT-hook 2 | Aina | 2 sairaudessa |
| IFT140intraflagellar transport 140 | Aina | 2 sairaudessa |
| IL2RAinterleukin 2 receptor subunit alpha | Aina | 1 sairaudessa |
| IL6STinterleukin 6 cytokine family signal transducer | Aina | 1 sairaudessa |
| KDM1Alysine demethylase 1A | Aina | 2 sairaudessa |
| KLHL20kelch like family member 20 | Aina | 1 sairaudessa |
| KPTNkaptin, actin binding protein | Aina | 2 sairaudessa |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Aina | 1 sairaudessa |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Aina | 1 sairaudessa |
| NALCNsodium leak channel, non-selective | Aina | 1 sairaudessa |
| OBSL1obscurin like cytoskeletal adaptor 1 | Aina | 1 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Aina | 1 sairaudessa |
Näytä 243 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| PEPDpeptidase D | Aina | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Aina | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Aina | 1 sairaudessa |
| PPFIA3PPFI scaffold protein A3 | Aina | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Aina | 1 sairaudessa |
| PTDSS1phosphatidylserine synthase 1 | Aina | 1 sairaudessa |
| PTH1Rparathyroid hormone 1 receptor | Aina | 1 sairaudessa |
| PUF60poly(U) binding splicing factor 60 | Aina | 2 sairaudessa |
| PYCR1pyrroline-5-carboxylate reductase 1 | Aina | 2 sairaudessa |
| RNU5B-1RNA, U5B small nuclear 1 | Aina | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Aina | 3 sairaudessa |
| RRAGCRas related GTP binding C | Aina | 1 sairaudessa |
| SCYL2SCY1 like pseudokinase 2 | Aina | 1 sairaudessa |
| SERPINH1serpin family H member 1 | Aina | 1 sairaudessa |
| SKIC3SKI3 subunit of superkiller complex | Aina | 2 sairaudessa |
| SONSON DNA and RNA binding protein | Aina | 2 sairaudessa |
| SP7Sp7 transcription factor | Aina | 1 sairaudessa |
| STAT5Bsignal transducer and activator of transcription 5B | Aina | 2 sairaudessa |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Aina | 1 sairaudessa |
| TMEM53transmembrane protein 53 | Aina | 1 sairaudessa |
| TTC7Atetratricopeptide repeat domain 7A | Aina | 1 sairaudessa |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Aina | 2 sairaudessa |
| ZBTB7Azinc finger and BTB domain containing 7A | Aina | 1 sairaudessa |
| ZPR1ZPR1 zinc finger | Aina | 1 sairaudessa |
| FLNBfilamin B | Hyvin usein (80–99%) | 2 sairaudessa |
| FUCA1alpha-L-fucosidase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Hyvin usein (80–99%) | 2 sairaudessa |
| IGF2insulin like growth factor 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| MED12mediator complex subunit 12 | Hyvin usein (80–99%) | 3 sairaudessa |
| MID1midline 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| NFIXnuclear factor I X | Hyvin usein (80–99%) | 3 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PLAG1PLAG1 zinc finger | Hyvin usein (80–99%) | 2 sairaudessa |
| ROR2ROR family WNT receptor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SH3PXD2BSH3 and PX domains 2B | Hyvin usein (80–99%) | 1 sairaudessa |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Hyvin usein (80–99%) | 1 sairaudessa |
| SMOC1SPARC related modular calcium binding 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ZBTB18zinc finger and BTB domain containing 18 | Hyvin usein (80–99%) | 2 sairaudessa |
| ACTL6Bactin like 6B | Usein (30–79%) | 1 sairaudessa |
| ADAT3adenosine deaminase tRNA specific 3 | Usein (30–79%) | 2 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Usein (30–79%) | 1 sairaudessa |
| ALX4ALX homeobox 4 | Usein (30–79%) | 1 sairaudessa |
| AMER1APC membrane recruitment protein 1 | Usein (30–79%) | 1 sairaudessa |
| APC2APC regulator of Wnt signaling pathway 2 | Usein (30–79%) | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Usein (30–79%) | 2 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Usein (30–79%) | 1 sairaudessa |
| CDH2cadherin 2 | Usein (30–79%) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Usein (30–79%) | 2 sairaudessa |
| CKAP2Lcytoskeleton associated protein 2L | Usein (30–79%) | 1 sairaudessa |
| CNOT3CCR4-NOT transcription complex subunit 3 | Usein (30–79%) | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| CTNNB1catenin beta 1 | Usein (30–79%) | 1 sairaudessa |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Usein (30–79%) | 3 sairaudessa |
| DPF2double PHD fingers 2 | Usein (30–79%) | 1 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Usein (30–79%) | 1 sairaudessa |
| DVL3dishevelled segment polarity protein 3 | Usein (30–79%) | 1 sairaudessa |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Usein (30–79%) | 1 sairaudessa |
| FZD2frizzled class receptor 2 | Usein (30–79%) | 1 sairaudessa |
| GLI2GLI family zinc finger 2 | Usein (30–79%) | 1 sairaudessa |
| GNSglucosamine (N-acetyl)-6-sulfatase | Usein (30–79%) | 1 sairaudessa |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Usein (30–79%) | 2 sairaudessa |
| GPC4glypican 4 | Usein (30–79%) | 1 sairaudessa |
| GRB10growth factor receptor bound protein 10 | Usein (30–79%) | 1 sairaudessa |
| H19H19 imprinted maternally expressed transcript | Usein (30–79%) | 2 sairaudessa |
| INPPL1inositol polyphosphate phosphatase like 1 | Usein (30–79%) | 1 sairaudessa |
| IRX5iroquois homeobox 5 | Usein (30–79%) | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Usein (30–79%) | 1 sairaudessa |
| KIAA0753KIAA0753 | Usein (30–79%) | 1 sairaudessa |
| KIDINS220kinase D interacting substrate 220 | Usein (30–79%) | 2 sairaudessa |
| KMT2Alysine methyltransferase 2A | Usein (30–79%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Usein (30–79%) | 1 sairaudessa |
| LRP4LDL receptor related protein 4 | Usein (30–79%) | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Usein (30–79%) | 1 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Usein (30–79%) | 1 sairaudessa |
| MAPKAPK5MAPK activated protein kinase 5 | Usein (30–79%) | 1 sairaudessa |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| MEG3maternally expressed 3 | Usein (30–79%) | 3 sairaudessa |
| MN1MN1 proto-oncogene, transcriptional regulator | Usein (30–79%) | 1 sairaudessa |
| NPR2natriuretic peptide receptor 2 | Usein (30–79%) | 2 sairaudessa |
| NSD2nuclear receptor binding SET domain protein 2 | Usein (30–79%) | 1 sairaudessa |
| PDE4Dphosphodiesterase 4D | Usein (30–79%) | 1 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Usein (30–79%) | 1 sairaudessa |
| PKDCCprotein kinase domain containing, cytoplasmic | Usein (30–79%) | 1 sairaudessa |
| PMM2phosphomannomutase 2 | Usein (30–79%) | 2 sairaudessa |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Usein (30–79%) | 1 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Usein (30–79%) | 2 sairaudessa |
| PTENphosphatase and tensin homolog | Usein (30–79%) | 1 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Usein (30–79%) | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Usein (30–79%) | 1 sairaudessa |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Usein (30–79%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Usein (30–79%) | 3 sairaudessa |
| RYR3ryanodine receptor 3 | Usein (30–79%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Usein (30–79%) | 1 sairaudessa |
| SKISKI proto-oncogene | Usein (30–79%) | 1 sairaudessa |
| SKIC2SKI2 subunit of superkiller complex | Usein (30–79%) | 2 sairaudessa |
| SMG9SMG9 nonsense mediated mRNA decay factor | Usein (30–79%) | 2 sairaudessa |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Usein (30–79%) | 2 sairaudessa |
| STAT3signal transducer and activator of transcription 3 | Usein (30–79%) | 2 sairaudessa |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Usein (30–79%) | 1 sairaudessa |
| TAF1TATA-box binding protein associated factor 1 | Usein (30–79%) | 1 sairaudessa |
| THSD1thrombospondin type 1 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| TMEM147transmembrane protein 147 | Usein (30–79%) | 1 sairaudessa |
| TWIST1twist family bHLH transcription factor 1 | Usein (30–79%) | 1 sairaudessa |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Usein (30–79%) | 1 sairaudessa |
| VPS35LVPS35 endosomal protein sorting factor like | Usein (30–79%) | 1 sairaudessa |
| WASHC4WASH complex subunit 4 | Usein (30–79%) | 1 sairaudessa |
| WNT5AWnt family member 5A | Usein (30–79%) | 1 sairaudessa |
| ZBTB20zinc finger and BTB domain containing 20 | Usein (30–79%) | 1 sairaudessa |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Joskus (5–29%) | 1 sairaudessa |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Joskus (5–29%) | 1 sairaudessa |
| ARCN1archain 1 coat protein complex I subunit delta | Joskus (5–29%) | 1 sairaudessa |
| ARXaristaless related homeobox | Joskus (5–29%) | 1 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Joskus (5–29%) | 2 sairaudessa |
| BRWD3bromodomain and WD repeat domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| CA2carbonic anhydrase 2 | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Joskus (5–29%) | 1 sairaudessa |
| CBFBcore-binding factor subunit beta | Joskus (5–29%) | 1 sairaudessa |
| CDC42cell division cycle 42 | Joskus (5–29%) | 2 sairaudessa |
| CLCN3Cl-/H+ antiporter 3 | Joskus (5–29%) | 1 sairaudessa |
| CRELD1CRELD disulfide isomerase 1 | Joskus (5–29%) | 1 sairaudessa |
| DHCR2424-dehydrocholesterol reductase | Joskus (5–29%) | 1 sairaudessa |
| DONSONDNA replication fork stabilization factor DONSON | Joskus (5–29%) | 1 sairaudessa |
| DOT1LDOT1 like histone lysine methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| DPH5diphthamide biosynthesis 5 | Joskus (5–29%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Joskus (5–29%) | 1 sairaudessa |
| EDARectodysplasin A receptor | Joskus (5–29%) | 1 sairaudessa |
| EDARADDEDAR associated via death domain | Joskus (5–29%) | 1 sairaudessa |
| ELNelastin | Joskus (5–29%) | 1 sairaudessa |
| ERMARDER membrane associated RNA degradation | Joskus (5–29%) | 1 sairaudessa |
| EXT2exostosin glycosyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| FAM149B1family with sequence similarity 149 member B1 | Joskus (5–29%) | 1 sairaudessa |
| FBLN5fibulin 5 | Joskus (5–29%) | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Joskus (5–29%) | 1 sairaudessa |
| FBXO31F-box protein 31 | Joskus (5–29%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| FOXC1forkhead box C1 | Joskus (5–29%) | 1 sairaudessa |
| H3-3AH3.3 histone A | Joskus (5–29%) | 1 sairaudessa |
| H3-3BH3.3 histone B | Joskus (5–29%) | 1 sairaudessa |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Joskus (5–29%) | 1 sairaudessa |
| HESX1HESX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| IGF1insulin like growth factor 1 | Joskus (5–29%) | 1 sairaudessa |
| JARID2jumonji and AT-rich interaction domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| KDF1keratinocyte differentiation factor 1 | Joskus (5–29%) | 1 sairaudessa |
| KICS2KICSTOR subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| KIF11kinesin family member 11 | Joskus (5–29%) | 1 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Joskus (5–29%) | 1 sairaudessa |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Joskus (5–29%) | 1 sairaudessa |
| LHX3LIM homeobox 3 | Joskus (5–29%) | 1 sairaudessa |
| LHX4LIM homeobox 4 | Joskus (5–29%) | 1 sairaudessa |
| LRP6LDL receptor related protein 6 | Joskus (5–29%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Joskus (5–29%) | 1 sairaudessa |
| MAN2B1mannosidase alpha class 2B member 1 | Joskus (5–29%) | 1 sairaudessa |
| MARK2microtubule affinity regulating kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Joskus (5–29%) | 1 sairaudessa |
| MED16mediator complex subunit 16 | Joskus (5–29%) | 1 sairaudessa |
| MEGF8multiple EGF like domains 8 | Joskus (5–29%) | 1 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Joskus (5–29%) | 1 sairaudessa |
| PITX2paired like homeodomain 2 | Joskus (5–29%) | 1 sairaudessa |
| POU1F1POU class 1 homeobox 1 | Joskus (5–29%) | 2 sairaudessa |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Joskus (5–29%) | 1 sairaudessa |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Joskus (5–29%) | 1 sairaudessa |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| PROP1PROP paired-like homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| PURApurine rich element binding protein A | Joskus (5–29%) | 2 sairaudessa |
| RECQL4RecQ like helicase 4 | Joskus (5–29%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| SIN3ASIN3 transcription regulator family member A | Joskus (5–29%) | 1 sairaudessa |
| SRPK3SRSF protein kinase 3 | Joskus (5–29%) | 1 sairaudessa |
| SVBPsmall vasohibin binding protein | Joskus (5–29%) | 1 sairaudessa |
| TONSLtonsoku like, DNA repair protein | Joskus (5–29%) | 1 sairaudessa |
| TRAF6TNF receptor associated factor 6 | Joskus (5–29%) | 1 sairaudessa |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Joskus (5–29%) | 1 sairaudessa |
| USP9Xubiquitin specific peptidase 9 X-linked | Joskus (5–29%) | 3 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | Joskus (5–29%) | 3 sairaudessa |
| ZFXzinc finger protein X-linked | Joskus (5–29%) | 1 sairaudessa |
| ZNF292zinc finger protein 292 | Joskus (5–29%) | 1 sairaudessa |
| ZNF711ZFX family zinc finger ZNF711 | 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 |
| CNTNAP2contactin associated protein 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Harvinainen (1–4 %) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA5gap junction protein alpha 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA8gap junction protein alpha 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJB2gap junction protein beta 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJB6gap junction protein beta 6 | Harvinainen (1–4 %) | 1 sairaudessa |
| NEXMIFneurite extension and migration factor | 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 |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ABCC9ATP binding cassette subfamily C member 9 | Ei kirjattu | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ei kirjattu | 1 sairaudessa |
| ASXL1ASXL transcriptional regulator 1 | Ei kirjattu | 1 sairaudessa |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ei kirjattu | 1 sairaudessa |
| CCND2cyclin D2 | Ei kirjattu | 1 sairaudessa |
| CHD3chromodomain helicase DNA binding protein 3 | Ei kirjattu | 1 sairaudessa |
| CHST3carbohydrate sulfotransferase 3 | Ei kirjattu | 1 sairaudessa |
| COL27A1collagen type XXVII alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| CPT2carnitine palmitoyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ei kirjattu | 1 sairaudessa |
| ERFETS2 repressor factor | Ei kirjattu | 1 sairaudessa |
| FAM50Afamily with sequence similarity 50 member A | Ei kirjattu | 1 sairaudessa |
| GLE1GLE1 RNA export mediator | Ei kirjattu | 1 sairaudessa |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ei kirjattu | 1 sairaudessa |
| HRASHRas proto-oncogene, GTPase | Ei kirjattu | 1 sairaudessa |
| IFT81intraflagellar transport 81 | Ei kirjattu | 1 sairaudessa |
| INPP5Einositol polyphosphate-5-phosphatase E | Ei kirjattu | 1 sairaudessa |
| ITGA3integrin subunit alpha 3 | Ei kirjattu | 1 sairaudessa |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ei kirjattu | 1 sairaudessa |
| KIF7kinesin family member 7 | Ei kirjattu | 1 sairaudessa |
| KMT2Elysine methyltransferase 2E (inactive) | Ei kirjattu | 1 sairaudessa |
| LBRlamin B receptor | Ei kirjattu | 1 sairaudessa |
| MAB21L2mab-21 like 2 | Ei kirjattu | 1 sairaudessa |
| MED13Lmediator complex subunit 13L | Ei kirjattu | 1 sairaudessa |
| MYH3myosin heavy chain 3 | Ei kirjattu | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ei kirjattu | 1 sairaudessa |
| NANSN-acetylneuraminate synthase | Ei kirjattu | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Ei kirjattu | 1 sairaudessa |
| OPHN1oligophrenin 1 | Ei kirjattu | 1 sairaudessa |
| PAM16presequence translocase associated motor 16 | Ei kirjattu | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Ei kirjattu | 1 sairaudessa |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Ei kirjattu | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Ei kirjattu | 1 sairaudessa |
| POC1APOC1 centriolar protein A | Ei kirjattu | 1 sairaudessa |
| RALARAS like proto-oncogene A | Ei kirjattu | 1 sairaudessa |
| SETBP1SET binding protein 1 | Ei kirjattu | 1 sairaudessa |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ei kirjattu | 1 sairaudessa |
| SNX14sorting nexin 14 | Ei kirjattu | 1 sairaudessa |
| SRCAPSnf2 related CREBBP activator protein | Ei kirjattu | 1 sairaudessa |
| SUMF1sulfatase modifying factor 1 | Ei kirjattu | 1 sairaudessa |
| TAPT1transmembrane anterior posterior transformation 1 | Ei kirjattu | 1 sairaudessa |
| TBCEtubulin folding cofactor E | Ei kirjattu | 1 sairaudessa |
| TRIP11thyroid hormone receptor interactor 11 | Ei kirjattu | 1 sairaudessa |
| TRRAPtransformation/transcription domain associated protein | Ei kirjattu | 1 sairaudessa |
| UNC80unc-80 subunit of NALCN channel complex | 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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