AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
Kenmerk
Dry skin
Skin characterized by the lack of natural or normal moisture.
Samenvatting
- Ook bekend als
- Xerosis
- Lichaamssysteem
- Abnormality of the integument
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/dry-skin.json"
page <- fromJSON(url)
page$trait$nameDry skinHP:0000958
AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
Lees de genen die aan Dry skin gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen108 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.
- Aicardi-Goutieres SyndromeReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Inherited IchthyosesReads 13 of these genesFLG2ABCA12ALOX12BALOXE3CYP4F22LIPNAbout this report →
- Ectodermal DysplasiasReads 10 of these genesCST6EDAEDARADDIKBKGNFKBIATP63About this report →
- MelanomaReads 4 of these genesCDK4CDKN2AMITFPOT1About this report →
Show 104 more reports
- DNA Repair DiseaseReads 13 of these genesERCC4ERCC6DDB2ERCC2ERCC3ERCC5About this report →
- Other Inborn Errors of ImmunityReads 29 of these genesIKBKGITPR3NFKBIAPOLD3SPINK5CTLA4About this report →
- Noonan SyndromeReads 9 of these genesBRAFKRASMAP2K1MAP2K2NRASRAF1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 11 of these genesADARIFIH1PSMB10RNASEH2ARNASEH2BRNASEH2CAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 10 of these genesWNT10AGJA1GJB3GJB4KDSRKRT1About this report →
- Thyroid CancerReads 9 of these genesTGCASRGNA11NKX2-5PAX8TRHRAbout this report →
- Congenital HypothyroidismReads 7 of these genesTGNKX2-5PAX8TRHRTSHBSLC5A5About this report →
- Other Inherited LeukodystrophiesReads 13 of these genesPOLR3AALDH3A2PEX7ADARIFIH1RNASEH2AAbout this report →
- Severe Combined ImmunodeficiencyReads 7 of these genesADADCLRE1CIL2RGIL7RNUDCD3RAG1About this report →
- Immuno-Osseous DysplasiasReads 2 of these genesRMRPRNU4ATACAbout this report →
- Hypertrophic CardiomyopathyReads 9 of these genesBRAFKRASMAP2K1MAP2K2NRASRAF1About this report →
- Hypodontia and AnodontiaReads 3 of these genesEDAWNT10AWNT10BAbout this report →
- Alzahrani-Kuwahara SyndromeReads 1 of these genesSMG8About this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- BCKDK DeficiencyReads 1 of these genesBCKDKAbout this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Ichthyosis VulgarisReads 1 of these genesFLGAbout this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- KYNU-Related Congenital NAD DeficiencyReads 1 of these genesKYNUAbout this report →
- Lamb-Shaffer SyndromeReads 1 of these genesSOX5About this report →
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIReads 1 of these genesPCNTAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Prolidase DeficiencyReads 1 of these genesPEPDAbout this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Scalp-Ear-Nipple SyndromeReads 1 of these genesKCTD1About this report →
- X-linked Autoinflammatory DiseaseReads 1 of these genesIKBKGAbout this report →
- Inherited Neurodegenerative DisordersReads 18 of these genesELOVL4POLR3ATRIP4ALDH3A2ATP7APEX7About this report →
- Autoimmune DiseaseReads 4 of these genesCTLA4KRASNOD2TREX1About this report →
- Hereditary AmyloidosisReads 3 of these genesGPNMBGSNOSMRAbout this report →
- Type I InterferonopathiesReads 3 of these genesIFIH1PSMB10TREX1About this report →
- Hypogonadotropic HypogonadismReads 6 of these genesCHD7FGFR1HESX1OTX2PROKR2SOX3About this report →
- Dyskeratosis CongenitaReads 4 of these genesACDPOT1TERTTINF2About this report →
- Congenital Disorders of GlycosylationReads 8 of these genesDOLKPIGGPIGLSRD5A3ALG11COG6About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 4 of these genesERCC2ERCC5OTX2SOX2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 2 of these genesFUCA1NAGAAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 2 of these genesCTLA4KRASAbout this report →
- Hyper-IgE SyndromeReads 2 of these genesSPINK5ZNF341About this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 2 of these genesCASRGNA11About this report →
- Acrodermatitis EnteropathicaReads 1 of these genesSLC39A4About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Neuroblastoma Predisposition (ALK and PHOX2B)Reads 1 of these genesALKAbout this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGGPIGHPIGLAbout this report →
- Familial Pulmonary FibrosisReads 2 of these genesPOT1TERTAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 3 of these genesHESX1OTX2SOX3About this report →
- Intellectual DisabilityReads 9 of these genesUBE2ANSD2PIGGPIGLZEB2CAMK2BAbout this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Stargardt DiseaseReads 1 of these genesELOVL4About this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesRIPK4About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 2 of these genesPEX7PEX11BAbout this report →
- Osteogenesis ImperfectaReads 3 of these genesPOLR3AIFIH1MBTPS2About this report →
- 46,XX Differences of Sex DevelopmentReads 1 of these genesSOX3About this report →
- Moyamoya DiseaseReads 1 of these genesSAMHD1About this report →
- Hereditary Corneal DystrophiesReads 2 of these genesGSNNLRP1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 7 of these genesITPR3ATP7AGSNPEX7NTRK1AARS1About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesSLF2About this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR1IFT43About this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesPHYHAbout this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesMYSM1About this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesIFT43About this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesABCA1About this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 1 of these genesTERTAbout this report →
- IPEX Syndrome and Other TregopathiesReads 1 of these genesCTLA4About this report →
- Waardenburg SyndromeReads 1 of these genesMITFAbout this report →
- Epilepsy (Full Panel)Reads 5 of these genesRNU2-2CSTBCPLX1ZEB2AARS1About this report →
- Inherited ThrombocytopeniasReads 2 of these genesRAP1BKDSRAbout this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesITPR3ATP7AAARS1About this report →
- Kidney CancerReads 1 of these genesBAP1About this report →
- Familial HypomagnesemiaReads 1 of these genesCLDN10About this report →
- HyperinsulinismReads 1 of these genesINSRAbout this report →
- LipodystrophyReads 1 of these genesCAV1About this report →
- Urinary and Renal System TumourReads 1 of these genesBAP1About this report →
- Dilated CardiomyopathyReads 2 of these genesDOLKRAF1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesNKX2-5About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Lysosomal Storage DiseaseReads 2 of these genesFUCA1NAGAAbout this report →
- Cutis LaxaReads 1 of these genesATP7AAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesKIF11About this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- Congenital Stationary Night BlindnessReads 1 of these genesTRPM1About this report →
- Epidermolysis BullosaReads 1 of these genesKRT14About this report →
- Retinitis PigmentosaReads 2 of these genesOFD1IFT43About this report →
- Congenital MyopathiesReads 1 of these genesRYR1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesNTRK1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- VitreoretinopathyReads 1 of these genesIKBKGAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesATP7AAbout this report →
- Congenital Muscular DystrophiesReads 1 of these genesTRIP4About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesELOVL4About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesOFD1About this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesRNF168About this report →
Lees de genen die aan Dry skin gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen214 genen gekoppeld aan Dry skin
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Dry skin 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 |
|---|---|---|
| BANF1barrier to autointegration nuclear assembly factor 1 | Altijd | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altijd | In 5 aandoeningen |
| BUD13BUD13 spliceosome associated protein | Altijd | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| CST6cystatin E/M | Altijd | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Altijd | In 2 aandoeningen |
| EDAectodysplasin A | Altijd | In 1 aandoening |
| EDARADDEDAR associated via death domain | Altijd | In 4 aandoeningen |
| ELOVL1ELOVL fatty acid elongase 1 | Altijd | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Altijd | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altijd | In 3 aandoeningen |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altijd | In 2 aandoeningen |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FLG2filaggrin 2 | Altijd | In 1 aandoening |
| GPNMBglycoprotein nmb | Altijd | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Altijd | In 2 aandoeningen |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Altijd | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altijd | In 1 aandoening |
| NFKBIANFKB inhibitor alpha | Altijd | In 1 aandoening |
| PGM2L1phosphoglucomutase 2 like 1 | Altijd | In 1 aandoening |
| POLD3DNA polymerase delta 3, accessory subunit | Altijd | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Altijd | In 1 aandoening |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altijd | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Altijd | In 1 aandoening |
| RECQLRecQ like helicase | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| SLC39A4solute carrier family 39 member 4 | Altijd | In 2 aandoeningen |
| SPINK5serine peptidase inhibitor Kazal type 5 | Altijd | In 2 aandoeningen |
| TGthyroglobulin | Altijd | In 1 aandoening |
| TM2D3TM2 domain containing 3 | Altijd | In 1 aandoening |
| TP63tumor protein p63 | Altijd | In 5 aandoeningen |
| TRIP4thyroid hormone receptor interactor 4 | Altijd | In 2 aandoeningen |
| UBE2Aubiquitin conjugating enzyme E2 A | Altijd | In 2 aandoeningen |
| WNT10AWnt family member 10A | Altijd | In 4 aandoeningen |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| ABCA12ATP binding cassette subfamily A member 12 | Heel vaak (80–99%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Heel vaak (80–99%) | In 1 aandoening |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 174 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ALOXE3arachidonate epidermal lipoxygenase 3 | Heel vaak (80–99%) | In 1 aandoening |
| ASPRV1aspartic peptidase retroviral like 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 1 aandoening |
| CD28CD28 molecule | Heel vaak (80–99%) | In 2 aandoeningen |
| CSTBcystatin B | Heel vaak (80–99%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Heel vaak (80–99%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| EDARectodysplasin A receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 4 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 2 aandoeningen |
| FLGfilaggrin | Heel vaak (80–99%) | In 2 aandoeningen |
| GSNgelsolin | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| LIPNlipase family member N | Heel vaak (80–99%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NIPAL4NIPA like domain containing 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEPDpeptidase D | Heel vaak (80–99%) | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Heel vaak (80–99%) | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Heel vaak (80–99%) | In 1 aandoening |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Heel vaak (80–99%) | In 1 aandoening |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Heel vaak (80–99%) | In 1 aandoening |
| STSsteroid sulfatase | Heel vaak (80–99%) | In 1 aandoening |
| SULT2B1sulfotransferase family 2B member 1 | Heel vaak (80–99%) | In 1 aandoening |
| TGM1transglutaminase 1 | Heel vaak (80–99%) | In 1 aandoening |
| TNFRSF1BTNF receptor superfamily member 1B | Heel vaak (80–99%) | In 2 aandoeningen |
| XPAXPA, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| ABCA1ATP binding cassette subfamily A member 1 | Vaak (30–79%) | In 2 aandoeningen |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Vaak (30–79%) | In 1 aandoening |
| ADAadenosine deaminase | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| ALKALK receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Vaak (30–79%) | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Vaak (30–79%) | In 1 aandoening |
| CASRcalcium sensing receptor | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CDK4cyclin dependent kinase 4 | Vaak (30–79%) | In 1 aandoening |
| CDKN2Acyclin dependent kinase inhibitor 2A | Vaak (30–79%) | In 1 aandoening |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Vaak (30–79%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| DCLRE1CDNA cross-link repair 1C | Vaak (30–79%) | In 1 aandoening |
| DOLKdolichol kinase | Vaak (30–79%) | In 1 aandoening |
| DRG1developmentally regulated GTP binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| EXOC2exocyst complex component 2 | Vaak (30–79%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| GJB3gap junction protein beta 3 | Vaak (30–79%) | In 1 aandoening |
| GJB4gap junction protein beta 4 | Vaak (30–79%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Vaak (30–79%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Vaak (30–79%) | In 1 aandoening |
| IL2RGinterleukin 2 receptor subunit gamma | Vaak (30–79%) | In 1 aandoening |
| IL7Rinterleukin 7 receptor | Vaak (30–79%) | In 1 aandoening |
| INSRinsulin receptor | Vaak (30–79%) | In 2 aandoeningen |
| KDSR3-ketodihydrosphingosine reductase | Vaak (30–79%) | In 1 aandoening |
| KRT1keratin 1 | Vaak (30–79%) | In 1 aandoening |
| KRT14keratin 14 | Vaak (30–79%) | In 1 aandoening |
| KYNUkynureninase | Vaak (30–79%) | In 1 aandoening |
| LEF1lymphoid enhancer binding factor 1 | Vaak (30–79%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| LSM11LSM11, U7 small nuclear RNA associated | Vaak (30–79%) | In 1 aandoening |
| MC1Rmelanocortin 1 receptor | Vaak (30–79%) | In 1 aandoening |
| MGMTO-6-methylguanine-DNA methyltransferase | Vaak (30–79%) | In 1 aandoening |
| MITFmelanocyte inducing transcription factor | Vaak (30–79%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Vaak (30–79%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| NLRP1NLR family pyrin domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Vaak (30–79%) | In 1 aandoening |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| NUDCD3NudC domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| PAX8paired box 8 | Vaak (30–79%) | In 2 aandoeningen |
| PCNTpericentrin | Vaak (30–79%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Vaak (30–79%) | In 1 aandoening |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Vaak (30–79%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Vaak (30–79%) | In 1 aandoening |
| POLHDNA polymerase eta | Vaak (30–79%) | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Vaak (30–79%) | In 1 aandoening |
| POT1protection of telomeres 1 | Vaak (30–79%) | In 1 aandoening |
| PRKD1protein kinase D1 | Vaak (30–79%) | In 1 aandoening |
| PSMB10proteasome 20S subunit beta 10 | Vaak (30–79%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 3 aandoeningen |
| RAG1recombination activating 1 | Vaak (30–79%) | In 1 aandoening |
| RAG2recombination activating 2 | Vaak (30–79%) | In 1 aandoening |
| RIPK4receptor interacting serine/threonine kinase 4 | Vaak (30–79%) | In 2 aandoeningen |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Aribonuclease H2 subunit A | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Bribonuclease H2 subunit B | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Vaak (30–79%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Vaak (30–79%) | In 2 aandoeningen |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SASH1SAM and SH3 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Vaak (30–79%) | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Vaak (30–79%) | In 1 aandoening |
| TERF2IPTERF2 interacting protein | Vaak (30–79%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Vaak (30–79%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Vaak (30–79%) | In 1 aandoening |
| TRHRthyrotropin releasing hormone receptor | Vaak (30–79%) | In 1 aandoening |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Vaak (30–79%) | In 1 aandoening |
| TSHBthyroid stimulating hormone subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| TSHZ3teashirt zinc finger homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| TWIST2twist family bHLH transcription factor 2 | Vaak (30–79%) | In 3 aandoeningen |
| WNT10BWnt family member 10B | Vaak (30–79%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Soms (5–29%) | In 1 aandoening |
| BCKDKbranched chain keto acid dehydrogenase kinase | Soms (5–29%) | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CASTcalpastatin | Soms (5–29%) | In 1 aandoening |
| COG6component of oligomeric golgi complex 6 | Soms (5–29%) | In 1 aandoening |
| CTSCcathepsin C | Soms (5–29%) | In 1 aandoening |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Soms (5–29%) | In 1 aandoening |
| DPP9dipeptidyl peptidase 9 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Soms (5–29%) | In 1 aandoening |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Soms (5–29%) | In 1 aandoening |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Soms (5–29%) | In 1 aandoening |
| GINS1GINS complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Soms (5–29%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Soms (5–29%) | In 1 aandoening |
| KCTD1potassium channel tetramerization domain containing 1 | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 1 aandoening |
| KIF15kinesin family member 15 | Soms (5–29%) | In 1 aandoening |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Soms (5–29%) | In 2 aandoeningen |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MYSM1Myb like, SWIRM and MPN domains 1 | Soms (5–29%) | In 2 aandoeningen |
| NOTCH2notch receptor 2 | Soms (5–29%) | In 1 aandoening |
| ODC1ornithine decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Soms (5–29%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Soms (5–29%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Soms (5–29%) | In 1 aandoening |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Soms (5–29%) | In 1 aandoening |
| SATB1SATB homeobox 1 | Soms (5–29%) | In 1 aandoening |
| SKIC2SKI2 subunit of superkiller complex | Soms (5–29%) | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Soms (5–29%) | In 1 aandoening |
| SLF2SMC5/6 complex localization factor 2 | Soms (5–29%) | In 1 aandoening |
| SMG8SMG8 nonsense mediated mRNA decay factor | Soms (5–29%) | In 1 aandoening |
| SOX2SRY-box transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TTC5tetratricopeptide repeat domain 5 | Soms (5–29%) | In 1 aandoening |
| ZNF341zinc finger protein 341 | Soms (5–29%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Zelden (1–4%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Zelden (1–4%) | In 1 aandoening |
| CLDN1claudin 1 | Niet vastgelegd | In 1 aandoening |
| CLDN10claudin 10 | Niet vastgelegd | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Niet vastgelegd | In 1 aandoening |
| FUCA1alpha-L-fucosidase 1 | Niet vastgelegd | In 1 aandoening |
| IFT43intraflagellar transport 43 | Niet vastgelegd | In 1 aandoening |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| MPDU1mannose-P-dolichol utilization defect 1 | Niet vastgelegd | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Niet vastgelegd | In 1 aandoening |
| OSMRoncostatin M receptor | Niet vastgelegd | In 1 aandoening |
| PAHphenylalanine hydroxylase | Niet vastgelegd | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Niet vastgelegd | In 1 aandoening |
| RNF168ring finger protein 168 | Niet vastgelegd | In 1 aandoening |
| SLC5A5solute carrier family 5 member 5 | Niet vastgelegd | In 1 aandoening |
| THRAthyroid hormone receptor alpha | Niet vastgelegd | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Niet vastgelegd | In 1 aandoening |
| UVSSAUV stimulated scaffold protein A | 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
