AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Egenskap
Abnormally close eyes
Klinisk navn: Hypotelorism
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Sammendrag
- Også kalt
- Closely spaced eyes, Decreased distance between eye sockets, Decreased distance between eyes, Decreased interpupillary distance, Decreased orbital separation, Ocular hypotelorism
- Kroppssystem
- Abnormality of the eye
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/hypotelorism.json"
page <- fromJSON(url)
page$trait$nameAbnormally close eyesHP:0000601
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Abnormally close eyes, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test81 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.
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 7 of these genesIFT122IFT43IFT52WDR19WDR35EVCAbout this report →
- Syndromic CraniosynostosisReads 11 of these genesFGFR1IFT122IFT43IFT52WDR19WDR35About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 10 of these genesSIX3CDONDISP1GLI2PLCH1PTCH1About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
Show 77 more reports
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 2 of these genesPTCH1SUFUAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 2 of these genesRERETRRAPAbout this report →
- ACBD5 DeficiencyReads 1 of these genesACBD5About this report →
- Alkuraya-Kucinskas SyndromeReads 1 of these genesBLTP1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- DLL1-Related Neurodevelopmental DisorderReads 1 of these genesDLL1About this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- HyperlysinaemiaReads 1 of these genesAASSAbout this report →
- NDE1-Related MicrolissencephalyReads 1 of these genesNDE1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- Scalp-Ear-Nipple SyndromeReads 1 of these genesKCTD1About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- TRAPPC9-Related Intellectual DisabilityReads 1 of these genesTRAPPC9About this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Intellectual DisabilityReads 14 of these genesKDM6BDYRK1ATRAPPC9CAMK2AHNRNPCHNRNPH2About this report →
- Cornelia de Lange SyndromeReads 2 of these genesSMC1ARAD21About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 4 of these genesSHHRAB3GAP1RAB3GAP2ERCC2About this report →
- Cutis LaxaReads 3 of these genesELNPYCR1ALDH18A1About this report →
- Cantú SyndromeReads 1 of these genesABCC9About this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesMSX2About this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Tubular Aggregate MyopathyReads 1 of these genesSTIM1About this report →
- Hypogonadotropic HypogonadismReads 5 of these genesFGFR1FGF8RAB3GAP2SNRPNPROKR2About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesNDE1RAB3GAP1RAB3GAP2About this report →
- DNA Repair DiseaseReads 4 of these genesGTF2H5ERCC2ERCC3FANCD2About this report →
- Coffin-Siris SyndromeReads 2 of these genesBICRAARID1BAbout this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Myelodysplastic Syndrome (MDS)Reads 1 of these genesGATA2About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Inherited Predisposition to Myeloid Blood CancersReads 1 of these genesGATA2About this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPDE4DAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesCEP57About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesPAN2RNU4-2About this report →
- Basal Ganglia CalcificationReads 1 of these genesPDGFRBAbout this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 1 of these genesGATA2About this report →
- Nephrotic SyndromeReads 2 of these genesNUP107NUP133About this report →
- Epilepsy (Full Panel)Reads 5 of these genesRNU2-2SMC1AAARS1CDK19HNRNPH2About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesPRPS1About this report →
- Inherited ThrombocytopeniasReads 2 of these genesSRCSTIM1About this report →
- Osteogenesis ImperfectaReads 2 of these genesPOLR3APYCR1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesSNRPNAbout this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesSUFUMKS1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Inherited Neurodegenerative DisordersReads 6 of these genesAARS1GPT2POLR3AQARS1ALDH18A1MKS1About this report →
- Congenital Disorders of GlycosylationReads 3 of these genesATP6AP1DPM2SLC35A1About this report →
- Hermansky-Pudlak SyndromeReads 1 of these genesAP3D1About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesNODALAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Other Inborn Errors of ImmunityReads 4 of these genesATP6AP1GATA2LIG4STIM1About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesKIF26AAbout this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesGPT2ALDH18A1About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesSTILAbout this report →
- Fanconi AnemiaReads 1 of these genesFANCD2About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesPRPS1AARS1About this report →
- Other Inherited LeukodystrophiesReads 2 of these genesAARS1POLR3AAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesWDR19About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesFKBP14About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesMKS1About this report →
- Dyskeratosis CongenitaReads 1 of these genesDCLRE1BAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 3 of these genesPRPS1AARS1SEPTIN9About this report →
- VitreoretinopathyReads 1 of these genesNDPAbout this report →
- Congenital Muscular DystrophiesReads 1 of these genesDPM2About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesLIG4About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJA1About this report →
- Dilated CardiomyopathyReads 1 of these genesABCC9About this report →
- Female InfertilityReads 1 of these genesNUP107About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesMKS1About this report →
- Retinitis PigmentosaReads 1 of these genesIFT43About this report →
- Hearing Loss and DeafnessReads 1 of these genesPRPS1About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesPOLRMTAbout this report →
Les genene knyttet til Abnormally close eyes, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test157 gener knyttet til Abnormally close eyes
Endringer i disse genene forårsaker sjeldne tilstander der Abnormally close eyes 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Alltid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alltid | I 1 tilstand |
| CEP57centrosomal protein 57 | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COX14cytochrome c oxidase assembly factor COX14 | Alltid | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Alltid | I 6 tilstander |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Alltid | I 2 tilstander |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Alltid | I 1 tilstand |
| NINninein | Alltid | I 2 tilstander |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SIX3SIX homeobox 3 | Alltid | I 6 tilstander |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Alltid | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Svært ofte (80–99 %) | I 6 tilstander |
| CRIPTOcripto, EGF-CFC family member | Svært ofte (80–99 %) | I 5 tilstander |
| DISP1dispatched RND transporter family member 1 | Svært ofte (80–99 %) | I 5 tilstander |
| DLL1delta like canonical Notch ligand 1 | Svært ofte (80–99 %) | I 5 tilstander |
| FGF8fibroblast growth factor 8 | Svært ofte (80–99 %) | I 5 tilstander |
| FOXH1forkhead box H1 | Svært ofte (80–99 %) | I 5 tilstander |
| GAS1growth arrest specific 1 | Svært ofte (80–99 %) | I 5 tilstander |
| GLI2GLI family zinc finger 2 | Svært ofte (80–99 %) | I 7 tilstander |
| NDPnorrin cystine knot growth factor NDP | Svært ofte (80–99 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Svært ofte (80–99 %) | I 5 tilstander |
| PLCH1phospholipase C eta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 6 tilstander |
| SHHsonic hedgehog signaling molecule | Svært ofte (80–99 %) | I 7 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 2 tilstander |
| STAG2STAG2 cohesin complex component | Svært ofte (80–99 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Svært ofte (80–99 %) | I 4 tilstander |
| TGIF1TGFB induced factor homeobox 1 | Svært ofte (80–99 %) | I 6 tilstander |
| ZIC2Zic family zinc finger 2 | Svært ofte (80–99 %) | I 6 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Ofte (30–79 %) | I 1 tilstand |
Vis 117 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| DCLRE1BDNA cross-link repair 1B | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| FREM1FRAS1 related extracellular matrix 1 | Ofte (30–79 %) | I 1 tilstand |
| GGT1gamma-glutamyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Ofte (30–79 %) | I 2 tilstander |
| IFT122intraflagellar transport 122 | Ofte (30–79 %) | I 2 tilstander |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Ofte (30–79 %) | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ofte (30–79 %) | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| SHPKsedoheptulokinase | Ofte (30–79 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Ofte (30–79 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CNOT1CCR4-NOT transcription complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Noen ganger (5–29 %) | I 2 tilstander |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GATA2GATA binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GON7GON7 subunit of KEOPS complex | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Noen ganger (5–29 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTNG2netrin G2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Noen ganger (5–29 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Noen ganger (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Noen ganger (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 2 tilstander |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Noen ganger (5–29 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjelden (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjelden (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjelden (1–4%) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Sjelden (1–4%) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Sjelden (1–4%) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Sjelden (1–4%) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registrert | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registrert | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registrert | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Ikke registrert | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Ikke registrert | I 1 tilstand |
| GSCgoosecoid homeobox | Ikke registrert | I 1 tilstand |
| LIG4DNA ligase 4 | Ikke registrert | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ikke registrert | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registrert | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registrert | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| SEPTIN9septin 9 | Ikke registrert | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registrert | I 1 tilstand |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ikke registrert | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registrert | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | 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.
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
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.
Fra 449 $
Gratis frakt · Resultater på 6–8 uker
