AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
Kenmerk
Short philtrum
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Samenvatting
- Ook bekend als
- Decreased height of philtrum, Decreased length of philtrum, Decreased vertical dimension of philtrum, Vertical hypoplasia of philtrum
- Lichaamssysteem
- Abnormality of head or neck
AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/short-philtrum.json"
page <- fromJSON(url)
page$trait$nameShort philtrumHP:0000322
AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
Lees de genen die aan Short philtrum gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen99 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 60 of these genesASH1LCHAMP1GATAD2BKDM6BMED12NONOAbout this report →
- Coffin-Siris SyndromeReads 7 of these genesARID1AARID2DPF2SMARCA4SOX11ARID1BAbout this report →
- GPI Anchor Biosynthesis DefectsReads 8 of these genesPIGGPIGLPGAP2PGAP3PIGOPIGVAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 8 of these genesCDONDISP1GLI2PTCH1SHHSIX3About this report →
Show 95 more reports
- Congenital Disorders of GlycosylationReads 15 of these genesPIGGPIGLEDEM3EXT2MAN1B1SLC35A2About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 2 of these genesPTCH1SUFUAbout this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 2 of these genesSMARCA4SMARCE1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 6 of these genesERCC1RAB3GAP2RAB18RAB3GAP1TBC1D20SHHAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 5 of these genesASH1LAP1S2TRPM3RNU4-2ANKRD17About this report →
- Epilepsy (Full Panel)Reads 14 of these genesDENND5ACPLX1NEXMIFDOCK7HNRNPH2SLC35A2About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 2 of these genesSOX11TRRAPAbout this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Alacrima, Achalasia and Intellectual Disability Syndrome (GMPPA)Reads 1 of these genesGMPPAAbout this report →
- Burn-McKeown SyndromeReads 1 of these genesTXNL4AAbout this report →
- CDH2-Related ACOGSReads 1 of these genesCDH2About this report →
- Cenani-Lenz Syndactyly SyndromeReads 1 of these genesLRP4About this report →
- Chung-Jansen Syndrome (PHIP)Reads 1 of these genesPHIPAbout this report →
- DLL1-Related Neurodevelopmental DisorderReads 1 of these genesDLL1About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About 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 →
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- JARID2-Related Neurodevelopmental DisorderReads 1 of these genesJARID2About this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- KIDINS220-Related Ventriculomegaly and ArthrogryposisReads 1 of these genesKIDINS220About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- MTX2-Related Mandibuloacral DysplasiaReads 1 of these genesMTX2About this report →
- Nizon-Isidor SyndromeReads 1 of these genesMED12LAbout this report →
- NOG-Related Symphalangism Spectrum DisorderReads 1 of these genesNOGAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- Skraban-Deardorff SyndromeReads 1 of these genesWDR26About this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- Stankiewicz-Isidor SyndromeReads 1 of these genesPSMD12About 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 →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Lissencephaly Spectrum DisordersReads 4 of these genesRAB3GAP2RAB18RAB3GAP1TBC1D20About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 3 of these genesADAMTS3CCBE1FAT4About this report →
- Hereditary Spastic ParaplegiaReads 6 of these genesKIDINS220AP4B1AP4E1AP4M1AP4S1ERLIN2About this report →
- Cleidocranial DysplasiaReads 1 of these genesRUNX2About this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesALX4About this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesWNT4About this report →
- Tubular Aggregate MyopathyReads 1 of these genesSTIM1About this report →
- Inherited Neurodegenerative DisordersReads 13 of these genesIREB2KIDINS220LETM1POLR3AFIG4VAC14About this report →
- Joubert Syndrome And Related DisordersReads 4 of these genesKIF7SUFUTCTN3TMEM237About this report →
- Syndromic CraniosynostosisReads 3 of these genesFGFR1KAT6ATWIST1About this report →
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationReads 1 of these genesIKZF2About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesKIFBPAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Inherited ThrombocytopeniasReads 3 of these genesCDC42STIM1GP1BBAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesNR4A2VAC14SCN4AAbout this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesNOGAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNFIXAbout this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPDE4DAbout this report →
- Hypogonadotropic HypogonadismReads 3 of these genesRAB3GAP2FGF8FGFR1About this report →
- Cornelia de Lange SyndromeReads 1 of these genesSMC1AAbout this report →
- Congenital Myasthenic SyndromeReads 2 of these genesLRP4SCN4AAbout this report →
- Colorectal Cancer & PolyposisReads 1 of these genesAPCAbout this report →
- Other Inborn Errors of ImmunityReads 5 of these genesIKZF2TCF3STIM1TBX1BCL11BAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesPITX2About this report →
- Autism Spectrum DisorderReads 1 of these genesTBR1About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesEMC1About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesTCF3About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesCDH2About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesNODALAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesTFAP2BAbout this report →
- Female InfertilityReads 2 of these genesFOXL2WNT4About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesKIF26AAbout this report →
- Ectodermal DysplasiasReads 1 of these genesKDF1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesDHX37About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL3A1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesBCL11BAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesPOLR3AAbout this report →
- DNA Repair DiseaseReads 1 of these genesERCC1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesTMEM237About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesDHX37About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesIKZF2About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesTMEM70About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesFIG4About this report →
Lees de genen die aan Short philtrum gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen267 genen gekoppeld aan Short philtrum
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Short philtrum voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altijd | In 1 aandoening |
| ASH1LASH1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Altijd | In 1 aandoening |
| CDC42cell division cycle 42 | Altijd | In 2 aandoeningen |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Altijd | In 1 aandoening |
| DENND5ADENN domain containing 5A | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altijd | In 1 aandoening |
| GATAD2BGATA zinc finger domain containing 2B | Altijd | In 2 aandoeningen |
| GMPPAGDP-mannose pyrophosphorylase A | Altijd | In 1 aandoening |
| H4C11H4 clustered histone 11 | Altijd | In 1 aandoening |
| IKZF2IKAROS family zinc finger 2 | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| IREB2iron responsive element binding protein 2 | Altijd | In 1 aandoening |
| ITCHitchy E3 ubiquitin protein ligase | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KCNK4potassium two pore domain channel subfamily K member 4 | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KIDINS220kinase D interacting substrate 220 | Altijd | In 1 aandoening |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Altijd | In 2 aandoeningen |
| MED12mediator complex subunit 12 | Altijd | In 2 aandoeningen |
| NONOnon-POU domain containing octamer binding | Altijd | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Altijd | In 3 aandoeningen |
| PTH1Rparathyroid hormone 1 receptor | Altijd | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altijd | In 3 aandoeningen |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altijd | In 1 aandoening |
| SMAD4SMAD family member 4 | Altijd | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| TCF3transcription factor 3 | Altijd | In 1 aandoening |
| TSPAN7tetraspanin 7 | Altijd | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Altijd | In 2 aandoeningen |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| WLSWnt ligand secretion mediator | Altijd | In 1 aandoening |
| ZBTB18zinc finger and BTB domain containing 18 | Altijd | In 1 aandoening |
| CPLX1complexin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CTBP1C-terminal binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CUL4Bcullin 4B | Heel vaak (80–99%) | In 1 aandoening |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 227 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NELFAnegative elongation factor complex member A | Heel vaak (80–99%) | In 1 aandoening |
| NEXMIFneurite extension and migration factor | Heel vaak (80–99%) | In 2 aandoeningen |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Heel vaak (80–99%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Heel vaak (80–99%) | In 3 aandoeningen |
| POLR3ARNA polymerase III subunit A | Heel vaak (80–99%) | In 1 aandoening |
| RAB18RAB18, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SH3PXD2BSH3 and PX domains 2B | Heel vaak (80–99%) | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Heel vaak (80–99%) | In 2 aandoeningen |
| TBC1D20TBC1 domain family member 20 | Heel vaak (80–99%) | In 1 aandoening |
| TCF4transcription factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| TFAP2Btranscription factor AP-2 beta | Heel vaak (80–99%) | In 2 aandoeningen |
| TMEM70transmembrane protein 70 | Heel vaak (80–99%) | In 1 aandoening |
| TXNL4Athioredoxin like 4A | Heel vaak (80–99%) | In 1 aandoening |
| ADAMTSL1ADAMTS like 1 | Vaak (30–79%) | In 1 aandoening |
| AFF3ALF transcription elongation factor 3 | Vaak (30–79%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Vaak (30–79%) | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Vaak (30–79%) | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Vaak (30–79%) | In 2 aandoeningen |
| BCAS3BCAS3 microtubule associated cell migration factor | Vaak (30–79%) | In 1 aandoening |
| BPTFbromodomain PHD finger transcription factor | Vaak (30–79%) | In 1 aandoening |
| C1GALT1C1C1GALT1 specific chaperone 1 | Vaak (30–79%) | In 1 aandoening |
| CDH11cadherin 11 | Vaak (30–79%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 1 aandoening |
| CKAP2Lcytoskeleton associated protein 2L | Vaak (30–79%) | In 2 aandoeningen |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 1 aandoening |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 1 aandoening |
| DOCK7dedicator of cytokinesis 7 | Vaak (30–79%) | In 2 aandoeningen |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 1 aandoening |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Vaak (30–79%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Vaak (30–79%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 1 aandoening |
| FGFRL1fibroblast growth factor receptor like 1 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 1 aandoening |
| FOXL2forkhead box L2 | Vaak (30–79%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 2 aandoeningen |
| GON4Lgon-4 like | Vaak (30–79%) | In 1 aandoening |
| H4C9H4 clustered histone 9 | Vaak (30–79%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Vaak (30–79%) | In 1 aandoening |
| HOXB1homeobox B1 | Vaak (30–79%) | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 1 aandoening |
| KCNK9potassium two pore domain channel subfamily K member 9 | Vaak (30–79%) | In 2 aandoeningen |
| KDF1keratinocyte differentiation factor 1 | Vaak (30–79%) | In 1 aandoening |
| KDM4Blysine demethylase 4B | Vaak (30–79%) | In 1 aandoening |
| KICS2KICSTOR subunit 2 | Vaak (30–79%) | In 1 aandoening |
| KIF7kinesin family member 7 | Vaak (30–79%) | In 1 aandoening |
| LRRC32leucine rich repeat containing 32 | Vaak (30–79%) | In 1 aandoening |
| MAN1B1mannosidase alpha class 1B member 1 | Vaak (30–79%) | In 2 aandoeningen |
| MCTP2multiple C2 and transmembrane domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Vaak (30–79%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Vaak (30–79%) | In 2 aandoeningen |
| MEF2Cmyocyte enhancer factor 2C | Vaak (30–79%) | In 2 aandoeningen |
| MEIS2Meis homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 2 aandoeningen |
| NKAPNFKB activating protein | Vaak (30–79%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Vaak (30–79%) | In 1 aandoening |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Vaak (30–79%) | In 1 aandoening |
| NSRP1nuclear speckle splicing regulatory protein 1 | Vaak (30–79%) | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Vaak (30–79%) | In 1 aandoening |
| PHF21APHD finger protein 21A | Vaak (30–79%) | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 2 aandoeningen |
| PQBP1polyglutamine binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PSMC3proteasome 26S subunit, ATPase 3 | Vaak (30–79%) | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Vaak (30–79%) | In 1 aandoening |
| PTCH1patched 1 | Vaak (30–79%) | In 1 aandoening |
| PUS7pseudouridine synthase 7 | Vaak (30–79%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 1 aandoening |
| RNF2ring finger protein 2 | Vaak (30–79%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Vaak (30–79%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Vaak (30–79%) | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 1 aandoening |
| STIM1stromal interaction molecule 1 | Vaak (30–79%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Vaak (30–79%) | In 1 aandoening |
| TBR1T-box brain transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| TMLHEtrimethyllysine hydroxylase, epsilon | Vaak (30–79%) | In 1 aandoening |
| TRAPPC9trafficking protein particle complex subunit 9 | Vaak (30–79%) | In 1 aandoening |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Vaak (30–79%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TWIST2twist family bHLH transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Vaak (30–79%) | In 1 aandoening |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Vaak (30–79%) | In 1 aandoening |
| VAC14VAC14 component of PIKFYVE complex | Vaak (30–79%) | In 1 aandoening |
| VPS51VPS51 subunit of GARP complex | Vaak (30–79%) | In 1 aandoening |
| WBP4WW domain binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| WDR26WD repeat domain 26 | Vaak (30–79%) | In 1 aandoening |
| ZDHHC9zDHHC palmitoyltransferase 9 | Vaak (30–79%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Soms (5–29%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Soms (5–29%) | In 1 aandoening |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Soms (5–29%) | In 2 aandoeningen |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Soms (5–29%) | In 2 aandoeningen |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Soms (5–29%) | In 2 aandoeningen |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Soms (5–29%) | In 2 aandoeningen |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Soms (5–29%) | In 2 aandoeningen |
| APCAPC regulator of Wnt signaling pathway | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Soms (5–29%) | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CDH2cadherin 2 | Soms (5–29%) | In 1 aandoening |
| CDK13cyclin dependent kinase 13 | Soms (5–29%) | In 1 aandoening |
| CHD5chromodomain helicase DNA binding protein 5 | Soms (5–29%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| CNOT3CCR4-NOT transcription complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 2 aandoeningen |
| DHX37DEAH-box helicase 37 | Soms (5–29%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 3 aandoeningen |
| DPYSL5dihydropyrimidinase like 5 | Soms (5–29%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Soms (5–29%) | In 1 aandoening |
| DVL3dishevelled segment polarity protein 3 | Soms (5–29%) | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Soms (5–29%) | In 2 aandoeningen |
| FAT4FAT atypical cadherin 4 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FEM1Bfem-1 homolog B | Soms (5–29%) | In 1 aandoening |
| FRYLFRY like transcription coactivator | Soms (5–29%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Soms (5–29%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 1 aandoening |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HDAC6histone deacetylase 6 | Soms (5–29%) | In 1 aandoening |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Soms (5–29%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| JARID2jumonji and AT-rich interaction domain containing 2 | Soms (5–29%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KIF26Akinesin family member 26A | Soms (5–29%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MED12Lmediator complex subunit 12L | Soms (5–29%) | In 1 aandoening |
| MEG3maternally expressed 3 | Soms (5–29%) | In 3 aandoeningen |
| MID2midline 2 | Soms (5–29%) | In 1 aandoening |
| MTX2metaxin 2 | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NXNnucleoredoxin | Soms (5–29%) | In 1 aandoening |
| PCDHGC4protocadherin gamma subfamily C, 4 | Soms (5–29%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Soms (5–29%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Soms (5–29%) | In 1 aandoening |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Soms (5–29%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Soms (5–29%) | In 2 aandoeningen |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Soms (5–29%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Soms (5–29%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 1 aandoening |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Soms (5–29%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 3 aandoeningen |
| SATB2SATB homeobox 2 | Soms (5–29%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Soms (5–29%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SHMT2serine hydroxymethyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC6A11solute carrier family 6 member 11 | Soms (5–29%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Soms (5–29%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMPD4sphingomyelin phosphodiesterase 4 | Soms (5–29%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 2 aandoeningen |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 2 aandoeningen |
| TCTN3tectonic family member 3 | Soms (5–29%) | In 1 aandoening |
| TMEM94transmembrane protein 94 | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| TRIP12thyroid hormone receptor interactor 12 | Soms (5–29%) | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Soms (5–29%) | In 1 aandoening |
| TTC5tetratricopeptide repeat domain 5 | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| WNT4Wnt family member 4 | Soms (5–29%) | In 1 aandoening |
| WNT5AWnt family member 5A | Soms (5–29%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Soms (5–29%) | In 1 aandoening |
| ACBD6acyl-CoA binding domain containing 6 | Zelden (1–4%) | In 1 aandoening |
| ANKRD17ankyrin repeat domain 17 | Zelden (1–4%) | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Zelden (1–4%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| SMSspermine synthase | Zelden (1–4%) | In 2 aandoeningen |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| BCL11BBCL11 transcription factor B | Niet vastgelegd | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| FREM1FRAS1 related extracellular matrix 1 | Niet vastgelegd | In 1 aandoening |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| IFT57intraflagellar transport 57 | Niet vastgelegd | In 1 aandoening |
| KIFBPkinesin family binding protein | Niet vastgelegd | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Niet vastgelegd | In 1 aandoening |
| NOGnoggin | Niet vastgelegd | In 1 aandoening |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| OPHN1oligophrenin 1 | Niet vastgelegd | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| PITX2paired like homeodomain 2 | Niet vastgelegd | In 1 aandoening |
| RALARAS like proto-oncogene A | Niet vastgelegd | In 1 aandoening |
| RUNX2RUNX family transcription factor 2 | Niet vastgelegd | In 1 aandoening |
| SLC35A1solute carrier family 35 member A1 | Niet vastgelegd | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Niet vastgelegd | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Niet vastgelegd | In 1 aandoening |
| TALDO1transaldolase 1 | Niet vastgelegd | In 1 aandoening |
| TMEM237transmembrane protein 237 | Niet vastgelegd | In 1 aandoening |
| TNPO2transportin 2 | Niet vastgelegd | In 1 aandoening |
| TRRAPtransformation/transcription domain associated protein | Niet vastgelegd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.19-9814e911.
AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
Vanaf $ 449
Gratis verzending · Resultaten binnen 6–8 weken
