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Egenskap
Narrow forehead
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Sammendrag
- Også kalt
- Decreased width of the forehead, Bitemporal narrowing, Bitemporal narrowness, Bitemporal skull narrowing, Intertemporal narrowing, Narrow bitemporal diameter, Narrow bitemporal width, Temporal narrowness
- Kroppssystem
- Abnormality of head or neck
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
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/narrow-forehead.json"
page <- fromJSON(url)
page$trait$nameNarrow foreheadHP:0000341
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Narrow forehead, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test94 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.
- Noonan SyndromeReads 10 of these genesBRAFPPP1CBSPRED2KRASLZTR1MAP2K1About this report →
- Intellectual DisabilityReads 25 of these genesATP6AP2CAMK2GDYRK1AMEIS2KAT6ATCF4About this report →
- Hypertrophic CardiomyopathyReads 11 of these genesBRAFNSD1PPP1CBSPRED2KRASLZTR1About this report →
- Cornelia de Lange SyndromeReads 3 of these genesSMC3NIPBLSMC1AAbout this report →
Show 90 more reports
- Epilepsy (Full Panel)Reads 16 of these genesADAM22ATP6AP2DNM1FLNADOCK7NEXMIFAbout this report →
- Monogenic Precocious PubertyReads 2 of these genesMKRN3DLK1About this report →
- GPI Anchor Biosynthesis DefectsReads 5 of these genesPIGYPIGTGPAA1PIGBPIGNAbout this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 5 of these genesVPS53CLP1AMPD2RARS2SLC25A46About this report →
- Lissencephaly Spectrum DisordersReads 5 of these genesKATNB1NDE1RELNPSPHRAB3GAP1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 3 of these genesNSD1MAGEL2SNRPNAbout this report →
- NeurofibromatosisReads 2 of these genesLZTR1NF1About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Auriculocondylar Syndrome 2 (PLCB4)Reads 1 of these genesPLCB4About this report →
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)Reads 1 of these genesH3-3AAbout this report →
- CEBALID Syndrome (MN1)Reads 1 of these genesMN1About this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- Klippel-Feil Anomaly with Myopathy (MYO18B)Reads 1 of these genesMYO18BAbout this report →
- NDE1-Related MicrolissencephalyReads 1 of these genesNDE1About this report →
- PPP1R21-Related Neurodevelopmental DisorderReads 1 of these genesPPP1R21About this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Sandestig-Stefanova SyndromeReads 1 of these genesNUP188About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Skraban-Deardorff SyndromeReads 1 of these genesWDR26About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- SPOP-Related Neurodevelopmental Disorder with MacrocephalyReads 1 of these genesSPOPAbout this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- TRAPPC4-Related Neurodevelopmental DisorderReads 1 of these genesTRAPPC4About this report →
- TRAPPC9-Related Intellectual DisabilityReads 1 of these genesTRAPPC9About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Warsaw Breakage SyndromeReads 1 of these genesDDX11About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Inherited Neurodegenerative DisordersReads 17 of these genesTBCKDTYMKGPT2PUM1AP4B1AP4E1About this report →
- Syndromic CraniosynostosisReads 4 of these genesKAT6AFGFR1ERFWDR35About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 3 of these genesTBCKRNU4-2ZFXAbout this report →
- Hereditary Spastic ParaplegiaReads 5 of these genesGPT2AP4B1AP4E1AP4M1AP4S1About this report →
- Congenital Disorders of GlycosylationReads 6 of these genesATP6AP2COG7PIGYPIGTFUT8PIGNAbout this report →
- Coffin-Siris SyndromeReads 2 of these genesBICRASMARCD1About this report →
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationReads 1 of these genesIKZF2About 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 →
- Inherited Congenital Heart DefectsReads 2 of these genesFLNAELNAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesTUBGCP2KIF26AAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesLMNB1About this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 1 of these genesSUOXAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hypogonadotropic HypogonadismReads 3 of these genesFGFR1MAGEL2SNRPNAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Hearing Loss and DeafnessReads 4 of these genesIKZF2SLC12A2TBC1D24AFG2BAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Hypodontia and AnodontiaReads 1 of these genesTSPEARAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesSIM1About this report →
- Nephrotic SyndromeReads 2 of these genesNUP107NUP133About this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPSPHAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesSERPINH1NBASAbout this report →
- Other Inborn Errors of ImmunityReads 5 of these genesIKZF2LIG4NBASKRASRELAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesPUM1ATN1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- OsteopetrosisReads 1 of these genesAMER1About this report →
- Cutis LaxaReads 1 of these genesELNAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesASPMAbout this report →
- Ectodermal DysplasiasReads 1 of these genesTSPEARAbout 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 →
- Other Inherited LeukodystrophiesReads 2 of these genesLMNB1PYCR2About this report →
- Congenital MyopathiesReads 1 of these genesRYR1About this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPYCR2About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesZIC2About this report →
- VitreoretinopathyReads 1 of these genesCOL18A1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesRAB3GAP1About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesLIG4About this report →
- Inherited ThrombocytopeniasReads 1 of these genesCDC42About this report →
- DNA Repair DiseaseReads 1 of these genesNBNAbout this report →
- Female InfertilityReads 1 of these genesNUP107About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesWWOXAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesSLC12A6SLC25A46About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGNPTABAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesSLC12A6About this report →
- Retinitis PigmentosaReads 1 of these genesIFT140About this report →
Les genene knyttet til Narrow forehead, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test216 gener knyttet til Narrow forehead
Endringer i disse genene forårsaker sjeldne tilstander der Narrow forehead 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 |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Alltid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alltid | I 1 tilstand |
| AXIN1axin 1 | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 3 tilstander |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Alltid | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Alltid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Alltid | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Alltid | I 1 tilstand |
| DDX11DEAD/H-box helicase 11 | Alltid | I 1 tilstand |
| DNM1dynamin 1 | Alltid | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alltid | I 2 tilstander |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 2 tilstander |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Alltid | I 1 tilstand |
| GOLGA2golgin A2 | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Alltid | I 2 tilstander |
| LGI4leucine rich repeat LGI family member 4 | Alltid | I 1 tilstand |
| LIG4DNA ligase 4 | Alltid | I 1 tilstand |
| MAD1L1mitotic arrest deficient 1 like 1 | Alltid | I 1 tilstand |
| MEIS2Meis homeobox 2 | Alltid | I 2 tilstander |
| MTSS2MTSS I-BAR domain containing 2 | Alltid | I 1 tilstand |
| NBNnibrin | Alltid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 1 tilstand |
| NUP107nucleoporin 107 | Alltid | I 2 tilstander |
| NUP188nucleoporin 188 | Alltid | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Alltid | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Alltid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alltid | I 1 tilstand |
| SC5Dsterol-C5-desaturase | Alltid | I 2 tilstander |
| SERPINH1serpin family H member 1 | Alltid | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Alltid | I 1 tilstand |
Vis 176 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| SPRED2sprouty related EVH1 domain containing 2 | Alltid | I 1 tilstand |
| SUOXsulfite oxidase | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Alltid | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Svært ofte (80–99 %) | I 2 tilstander |
| NBASNBAS subunit of NRZ tethering complex | Svært ofte (80–99 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Svært ofte (80–99 %) | I 2 tilstander |
| RYR1ryanodine receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Svært ofte (80–99 %) | I 1 tilstand |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 2 tilstander |
| TRAPPC9trafficking protein particle complex subunit 9 | Svært ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Ofte (30–79 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 2 tilstander |
| DPH5diphthamide biosynthesis 5 | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Ofte (30–79 %) | I 1 tilstand |
| FREM1FRAS1 related extracellular matrix 1 | Ofte (30–79 %) | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ofte (30–79 %) | I 2 tilstander |
| FUT8fucosyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 2 tilstander |
| GPT2glutamic--pyruvic transaminase 2 | Ofte (30–79 %) | I 2 tilstander |
| GTF3C3general transcription factor IIIC subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 2 tilstander |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 2 tilstander |
| MAPKAPK5MAPK activated protein kinase 5 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ofte (30–79 %) | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Ofte (30–79 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Ofte (30–79 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Ofte (30–79 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 2 tilstander |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| RELNreelin | Ofte (30–79 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 2 tilstander |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Ofte (30–79 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Ofte (30–79 %) | I 1 tilstand |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Noen ganger (5–29 %) | I 2 tilstander |
| CDKL5cyclin dependent kinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 2 tilstander |
| DDX6DEAD-box helicase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERFETS2 repressor factor | Noen ganger (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Noen ganger (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 2 tilstander |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PSPHphosphoserine phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 2 tilstander |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| SOX6SRY-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Noen ganger (5–29 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 2 tilstander |
| WSB2WD repeat and SOCS box containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Noen ganger (5–29 %) | I 1 tilstand |
| AFG2BAAA ATPase AFG2B | Sjelden (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjelden (1–4%) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sjelden (1–4%) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registrert | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ikke registrert | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Ikke registrert | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ikke registrert | I 1 tilstand |
| ATN1atrophin 1 | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registrert | I 1 tilstand |
| CDH11cadherin 11 | Ikke registrert | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Ikke registrert | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registrert | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registrert | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ikke registrert | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registrert | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | Ikke registrert | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Ikke registrert | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registrert | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registrert | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Ikke registrert | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ikke registrert | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registrert | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ikke registrert | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ikke registrert | I 1 tilstand |
| TNPO2transportin 2 | Ikke registrert | I 1 tilstand |
| TRAPPC4trafficking protein particle complex subunit 4 | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registrert | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | 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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