AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
Özellik
Sparse hair
Reduced density of hairs.
Özet
- Diğer adları
- Thin, sparse hair, Decreased hair growth, Decreased hair growth on body, Hypotrichosis, Marked hypotrichosis, Sparse hair since birth
- Vücut sistemi
- Abnormality of the integument
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
Bu sayfanın veri olarak görünümü
Veriyi JSON olarak okumak için sayfa adresinin sonuna .json ekleyin veya application/json isteyin.
library(jsonlite)
url <- "https://dantelabs.com/traits/sparse-hair.json"
page <- fromJSON(url)
page$trait$nameSparse hairHP:0008070
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
Sparse hair ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi al88 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.
- Ectodermal DysplasiasReads 13 of these genesCST6EDAEDAREDARADDIKBKGWNT10AAbout this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 12 of these genesAPCDD1CDH3DSG4LIPHLSSSNRPEAbout this report →
- Dyskeratosis CongenitaReads 12 of these genesACDCTC1DKC1NHP2NOP10NPM1About this report →
- Inherited IchthyosesReads 11 of these genesST14ABCA12ALOX12BALOXE3CYP4F22LIPNAbout this report →
Show 84 more reports
- Noonan SyndromeReads 10 of these genesMAP2K2PPP1CBSHOC2BRAFCBLKRASAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 5 of these genesIFT122IFT43IFT52WDR19WDR35About this report →
- Cutis LaxaReads 7 of these genesPYCR1RIN2ATP6V0A2ATP6V1AATP6V1E1ATP7AAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 9 of these genesAP1B1GJA1PERPWNT10AMBTPS2TRPV3About this report →
- Hypodontia and AnodontiaReads 4 of these genesEDAWNT10ALRP6WNT10BAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 3 of these genesNFIXDNMT3AEZH2About this report →
- Congenital Intestinal Atresia & Short BowelReads 2 of these genesCLMPTTC7AAbout this report →
- Syndromic CraniosynostosisReads 6 of these genesIFT122IFT43IFT52WDR19WDR35RECQL4About this report →
- Intellectual DisabilityReads 18 of these genesGATAD2BPRMT7PHF6PIGLSMARCA2SATB2About this report →
- Immuno-Osseous DysplasiasReads 2 of these genesRMRPRNU4ATACAbout this report →
- Rothmund-Thomson SyndromeReads 2 of these genesANAPC1RECQL4About this report →
- Hypertrophic CardiomyopathyReads 9 of these genesMAP2K2PPP1CBSHOC2BRAFKRASMAP2K1About this report →
- Familial Pulmonary FibrosisReads 3 of these genesPARNRTEL1TERTAbout this report →
- X-linked Autoinflammatory DiseaseReads 1 of these genesIKBKGAbout this report →
- LipodystrophyReads 3 of these genesZMPSTE24LMNACAV1About this report →
- Osteogenesis ImperfectaReads 5 of these genesPYCR1ATP6V0A2MBTPS2POLR3AMESDAbout this report →
- Other Inborn Errors of ImmunityReads 12 of these genesDCLRE1CIKBKGRAG1RAG2NFKBIARMRPAbout this report →
- DNA Repair DiseaseReads 5 of these genesDCLRE1CERCC2BRCA1ERCC6ERCC8About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 1 of these genesBRCA1About this report →
- Hereditary Diffuse Gastric CancerReads 1 of these genesCDH1About this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Kabuki SyndromeReads 1 of these genesKMT2DAbout this report →
- Charcot-Marie-Tooth DiseaseReads 6 of these genesMARS1PRPS1ATP7ALMNAAARS1ITPR3About this report →
- VitreoretinopathyReads 3 of these genesIKBKGCOL11A1CTC1About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesKIFBPAbout this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- TyrosinemiaReads 1 of these genesHPDAbout this report →
- Inherited Congenital Heart DefectsReads 2 of these genesNOTCH1FLNAAbout this report →
- Severe Combined ImmunodeficiencyReads 3 of these genesDCLRE1CRAG1RAG2About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 3 of these genesSTING1SKIC2SKIC3About this report →
- Congenital Disorders of GlycosylationReads 5 of these genesATP6V0A2PIGLMGAT2B3GALT6EXT2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesKMT2BTAF1DCAF17About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesCEP57About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesADAM17About this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesDNAJC21About this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Hearing Loss and DeafnessReads 4 of these genesPRPS1COL11A1GJB2GJB6About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Basal Ganglia CalcificationReads 1 of these genesPDGFRBAbout this report →
- Colorectal Cancer & PolyposisReads 1 of these genesAXIN2About this report →
- Hyper-IgE SyndromeReads 1 of these genesSPINK5About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesHSPA9About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesPRPS1About this report →
- Retinitis PigmentosaReads 3 of these genesIFT43IFT140OFD1About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesCDH1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesXYLT1About this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesOFD1TOGARAM1About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesDCAF17About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Epilepsy (Full Panel)Reads 4 of these genesATP6V1AAARS1FLNASLC32A1About this report →
- Hereditary AmyloidosisReads 1 of these genesGSNAbout this report →
- Type I InterferonopathiesReads 1 of these genesSTING1About this report →
- Urea Cycle DisorderReads 1 of these genesSLC7A7About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesPNPLA6ALDH18A1About this report →
- Amelogenesis ImperfectaReads 1 of these genesITGB6About this report →
- Fanconi AnemiaReads 1 of these genesBRCA1About this report →
- Epidermolysis BullosaReads 1 of these genesPKP1About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesGSNAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesAARS1POLR3AAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGLAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesWDR19About this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesB3GALT6About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesLSSAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesERCC2About this report →
- Spinal Muscular AtrophyReads 1 of these genesATP7AAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesLMNAAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesCACNA1GAbout this report →
- Male InfertilityReads 1 of these genesBCORL1About this report →
- Dilated CardiomyopathyReads 1 of these genesLMNAAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesDCAF17About this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGNPTABAbout this report →
- Primary Mitochondrial DiseaseReads 1 of these genesNDUFA6About this report →
Sparse hair ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alSparse hair ile ilişkili 229 gen
Bu genlerdeki değişiklikler, Sparse hair özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Her zaman | 1 durumda |
| ANTXR1ANTXR cell adhesion molecule 1 | Her zaman | 1 durumda |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Her zaman | 1 durumda |
| APCDD1APC down-regulated 1 | Her zaman | 2 durumda |
| C18orf32chromosome 18 open reading frame 32 | Her zaman | 1 durumda |
| CDH3cadherin 3 | Her zaman | 1 durumda |
| CEP57centrosomal protein 57 | Her zaman | 1 durumda |
| CILK1ciliogenesis associated kinase 1 | Her zaman | 1 durumda |
| CST6cystatin E/M | Her zaman | 1 durumda |
| DCLRE1CDNA cross-link repair 1C | Her zaman | 1 durumda |
| DSC3desmocollin 3 | Her zaman | 1 durumda |
| DSG4desmoglein 4 | Her zaman | 3 durumda |
| EDAectodysplasin A | Her zaman | 2 durumda |
| EDARectodysplasin A receptor | Her zaman | 3 durumda |
| EDARADDEDAR associated via death domain | Her zaman | 5 durumda |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Her zaman | 1 durumda |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Her zaman | 2 durumda |
| FEM1Bfem-1 homolog B | Her zaman | 1 durumda |
| GATAD2BGATA zinc finger domain containing 2B | Her zaman | 1 durumda |
| GJA1gap junction protein alpha 1 | Her zaman | 4 durumda |
| GTPBP1GTP binding protein 1 | Her zaman | 1 durumda |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Her zaman | 3 durumda |
| IRX5iroquois homeobox 5 | Her zaman | 1 durumda |
| KMT2Blysine methyltransferase 2B | Her zaman | 1 durumda |
| KRT71keratin 71 | Her zaman | 1 durumda |
| LIFRLIF receptor subunit alpha | Her zaman | 1 durumda |
| LIPHlipase H | Her zaman | 2 durumda |
| LSSlanosterol synthase | Her zaman | 3 durumda |
| MAP2K2mitogen-activated protein kinase kinase 2 | Her zaman | 3 durumda |
| MARS1methionyl-tRNA synthetase 1 | Her zaman | 1 durumda |
| MED25mediator complex subunit 25 | Her zaman | 1 durumda |
| PERPp53 apoptosis effector related to PMP22 | Her zaman | 2 durumda |
| PKP1plakophilin 1 | Her zaman | 2 durumda |
| PLCB4phospholipase C beta 4 | Her zaman | 1 durumda |
| PNPLA6patatin like domain 6, lysophospholipase | Her zaman | 2 durumda |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Her zaman | 1 durumda |
| PRMT7protein arginine methyltransferase 7 | Her zaman | 1 durumda |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Her zaman | 1 durumda |
| PTDSS1phosphatidylserine synthase 1 | Her zaman | 1 durumda |
| PYCR1pyrroline-5-carboxylate reductase 1 | Her zaman | 1 durumda |
189 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| RAG1recombination activating 1 | Her zaman | 1 durumda |
| RAG2recombination activating 2 | Her zaman | 1 durumda |
| RIN2Ras and Rab interactor 2 | Her zaman | 1 durumda |
| RNF113Aring finger protein 113A | Her zaman | 1 durumda |
| SEC23ASEC23 homolog A, COPII component | Her zaman | 2 durumda |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Her zaman | 1 durumda |
| SNRPEsmall nuclear ribonucleoprotein polypeptide E | Her zaman | 2 durumda |
| SREBF1sterol regulatory element binding transcription factor 1 | Her zaman | 2 durumda |
| ST14ST14 transmembrane serine protease matriptase | Her zaman | 2 durumda |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Her zaman | 1 durumda |
| TOMM7translocase of outer mitochondrial membrane 7 | Her zaman | 1 durumda |
| TRPS1transcriptional repressor GATA binding 1 | Her zaman | 2 durumda |
| UBE3Bubiquitin protein ligase E3B | Her zaman | 1 durumda |
| WNT10AWnt family member 10A | Her zaman | 2 durumda |
| ZMPSTE24zinc metallopeptidase STE24 | Her zaman | 2 durumda |
| ARHGAP31Rho GTPase activating protein 31 | Çok sık (%80–99) | 1 durumda |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Çok sık (%80–99) | 3 durumda |
| ATP6V1AATPase H+ transporting V1 subunit A | Çok sık (%80–99) | 1 durumda |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Çok sık (%80–99) | 1 durumda |
| ATP7AATPase copper transporting alpha | Çok sık (%80–99) | 2 durumda |
| BRF1BRF1 general transcription factor IIIB subunit | Çok sık (%80–99) | 1 durumda |
| CDH1cadherin 1 | Çok sık (%80–99) | 1 durumda |
| CHD6chromodomain helicase DNA binding protein 6 | Çok sık (%80–99) | 1 durumda |
| DLL4delta like canonical Notch ligand 4 | Çok sık (%80–99) | 1 durumda |
| DOCK6dedicator of cytokinesis 6 | Çok sık (%80–99) | 1 durumda |
| EDA2Rectodysplasin A2 receptor | Çok sık (%80–99) | 1 durumda |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Çok sık (%80–99) | 1 durumda |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Çok sık (%80–99) | 2 durumda |
| GTPBP2GTP binding protein 2 | Çok sık (%80–99) | 1 durumda |
| HPD4-hydroxyphenylpyruvate dioxygenase | Çok sık (%80–99) | 2 durumda |
| IFT122intraflagellar transport 122 | Çok sık (%80–99) | 2 durumda |
| IFT43intraflagellar transport 43 | Çok sık (%80–99) | 2 durumda |
| IFT52intraflagellar transport 52 | Çok sık (%80–99) | 1 durumda |
| KCTD1potassium channel tetramerization domain containing 1 | Çok sık (%80–99) | 2 durumda |
| KDF1keratinocyte differentiation factor 1 | Çok sık (%80–99) | 1 durumda |
| KRT81keratin 81 | Çok sık (%80–99) | 1 durumda |
| KRT83keratin 83 | Çok sık (%80–99) | 1 durumda |
| KRT86keratin 86 | Çok sık (%80–99) | 2 durumda |
| LMNAlamin A/C | Çok sık (%80–99) | 2 durumda |
| LRP6LDL receptor related protein 6 | Çok sık (%80–99) | 1 durumda |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Çok sık (%80–99) | 2 durumda |
| NFKBIANFKB inhibitor alpha | Çok sık (%80–99) | 2 durumda |
| NOTCH1notch receptor 1 | Çok sık (%80–99) | 1 durumda |
| PHF6PHD finger protein 6 | Çok sık (%80–99) | 1 durumda |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Çok sık (%80–99) | 2 durumda |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Çok sık (%80–99) | 1 durumda |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Çok sık (%80–99) | 2 durumda |
| RNU4ATACRNA, U4atac small nuclear | Çok sık (%80–99) | 2 durumda |
| SLC25A24solute carrier family 25 member 24 | Çok sık (%80–99) | 1 durumda |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Çok sık (%80–99) | 2 durumda |
| SPINK5serine peptidase inhibitor Kazal type 5 | Çok sık (%80–99) | 1 durumda |
| TRAF6TNF receptor associated factor 6 | Çok sık (%80–99) | 1 durumda |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Çok sık (%80–99) | 2 durumda |
| TWIST2twist family bHLH transcription factor 2 | Çok sık (%80–99) | 4 durumda |
| WDR19WD repeat domain 19 | Çok sık (%80–99) | 1 durumda |
| WDR35WD repeat domain 35 | Çok sık (%80–99) | 3 durumda |
| AARS1alanyl-tRNA synthetase 1 | Sık (%30–79) | 1 durumda |
| ABCA12ATP binding cassette subfamily A member 12 | Sık (%30–79) | 1 durumda |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Sık (%30–79) | 1 durumda |
| AHSGalpha 2-HS glycoprotein | Sık (%30–79) | 1 durumda |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Sık (%30–79) | 1 durumda |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Sık (%30–79) | 1 durumda |
| ALX4ALX homeobox 4 | Sık (%30–79) | 1 durumda |
| ANAPC1anaphase promoting complex subunit 1 | Sık (%30–79) | 2 durumda |
| ASPRV1aspartic peptidase retroviral like 1 | Sık (%30–79) | 1 durumda |
| BCORL1BCL6 corepressor like 1 | Sık (%30–79) | 1 durumda |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sık (%30–79) | 2 durumda |
| CANT1calcium activated nucleotidase 1 | Sık (%30–79) | 1 durumda |
| CAV1caveolin 1 | Sık (%30–79) | 1 durumda |
| CBLCbl proto-oncogene | Sık (%30–79) | 1 durumda |
| CLMPCXADR like cell adhesion molecule | Sık (%30–79) | 1 durumda |
| COL11A1collagen type XI alpha 1 chain | Sık (%30–79) | 1 durumda |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Sık (%30–79) | 1 durumda |
| CTC1CST telomere replication complex component 1 | Sık (%30–79) | 2 durumda |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Sık (%30–79) | 1 durumda |
| DKC1dyskerin pseudouridine synthase 1 | Sık (%30–79) | 1 durumda |
| DSG1desmoglein 1 | Sık (%30–79) | 1 durumda |
| EXOSC2exosome component 2 | Sık (%30–79) | 1 durumda |
| FLNAfilamin A | Sık (%30–79) | 1 durumda |
| GJB2gap junction protein beta 2 | Sık (%30–79) | 1 durumda |
| GJB6gap junction protein beta 6 | Sık (%30–79) | 2 durumda |
| IFT140intraflagellar transport 140 | Sık (%30–79) | 1 durumda |
| ITGB6integrin subunit beta 6 | Sık (%30–79) | 1 durumda |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Sık (%30–79) | 1 durumda |
| KRASKRas proto-oncogene, GTPase | Sık (%30–79) | 4 durumda |
| LIPNlipase family member N | Sık (%30–79) | 1 durumda |
| LPAR6lysophosphatidic acid receptor 6 | Sık (%30–79) | 1 durumda |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sık (%30–79) | 2 durumda |
| MAPKAPK5MAPK activated protein kinase 5 | Sık (%30–79) | 1 durumda |
| MTX2metaxin 2 | Sık (%30–79) | 1 durumda |
| NECTIN1nectin cell adhesion molecule 1 | Sık (%30–79) | 1 durumda |
| NFIXnuclear factor I X | Sık (%30–79) | 1 durumda |
| NHP2NHP2 ribonucleoprotein | Sık (%30–79) | 1 durumda |
| NIPAL4NIPA like domain containing 4 | Sık (%30–79) | 1 durumda |
| NOP10NOP10 ribonucleoprotein | Sık (%30–79) | 1 durumda |
| NPM1nucleophosmin 1 | Sık (%30–79) | 1 durumda |
| PARNpoly(A)-specific ribonuclease | Sık (%30–79) | 2 durumda |
| PI4KAphosphatidylinositol 4-kinase alpha | Sık (%30–79) | 1 durumda |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sık (%30–79) | 1 durumda |
| POLR3ARNA polymerase III subunit A | Sık (%30–79) | 1 durumda |
| PORCNporcupine O-acyltransferase | Sık (%30–79) | 2 durumda |
| RECQL4RecQ like helicase 4 | Sık (%30–79) | 2 durumda |
| RPL21ribosomal protein L21 | Sık (%30–79) | 1 durumda |
| RTEL1regulator of telomere elongation helicase 1 | Sık (%30–79) | 1 durumda |
| SATB2SATB homeobox 2 | Sık (%30–79) | 3 durumda |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Sık (%30–79) | 1 durumda |
| STING1stimulator of interferon response cGAMP interactor 1 | Sık (%30–79) | 1 durumda |
| SULT2B1sulfotransferase family 2B member 1 | Sık (%30–79) | 1 durumda |
| TERCtelomerase RNA component | Sık (%30–79) | 2 durumda |
| TERTtelomerase reverse transcriptase | Sık (%30–79) | 2 durumda |
| TGM1transglutaminase 1 | Sık (%30–79) | 3 durumda |
| TINF2TERF1 interacting nuclear factor 2 | Sık (%30–79) | 4 durumda |
| TSHZ3teashirt zinc finger homeobox 3 | Sık (%30–79) | 1 durumda |
| TTC7Atetratricopeptide repeat domain 7A | Sık (%30–79) | 1 durumda |
| TYMSthymidylate synthetase | Sık (%30–79) | 1 durumda |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Sık (%30–79) | 1 durumda |
| WNT10BWnt family member 10B | Sık (%30–79) | 1 durumda |
| WRAP53WD repeat containing antisense to TP53 | Sık (%30–79) | 1 durumda |
| XYLT1xylosyltransferase 1 | Sık (%30–79) | 1 durumda |
| ASXL3ASXL transcriptional regulator 3 | Bazen (%5–29) | 1 durumda |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Bazen (%5–29) | 1 durumda |
| CACHD1cache domain containing 1 | Bazen (%5–29) | 1 durumda |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Bazen (%5–29) | 1 durumda |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Bazen (%5–29) | 1 durumda |
| CDC42BPBCDC42 binding protein kinase beta | Bazen (%5–29) | 1 durumda |
| CKAP2Lcytoskeleton associated protein 2L | Bazen (%5–29) | 1 durumda |
| CREBBPCREB binding lysine acetyltransferase | Bazen (%5–29) | 1 durumda |
| CWC27CWC27 spliceosome associated cyclophilin | Bazen (%5–29) | 1 durumda |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Bazen (%5–29) | 1 durumda |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Bazen (%5–29) | 1 durumda |
| GSNgelsolin | Bazen (%5–29) | 1 durumda |
| H3-3BH3.3 histone B | Bazen (%5–29) | 1 durumda |
| KDM4Blysine demethylase 4B | Bazen (%5–29) | 1 durumda |
| KMT2Dlysine methyltransferase 2D | Bazen (%5–29) | 1 durumda |
| LEF1lymphoid enhancer binding factor 1 | Bazen (%5–29) | 1 durumda |
| MED16mediator complex subunit 16 | Bazen (%5–29) | 1 durumda |
| MESDmesoderm development LRP chaperone | Bazen (%5–29) | 1 durumda |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Bazen (%5–29) | 1 durumda |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Bazen (%5–29) | 1 durumda |
| NRASNRAS proto-oncogene, GTPase | Bazen (%5–29) | 1 durumda |
| NSRP1nuclear speckle splicing regulatory protein 1 | Bazen (%5–29) | 1 durumda |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Bazen (%5–29) | 1 durumda |
| OFD1OFD1 centriole and centriolar satellite protein | Bazen (%5–29) | 2 durumda |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Bazen (%5–29) | 1 durumda |
| PDGFRBplatelet derived growth factor receptor beta | Bazen (%5–29) | 1 durumda |
| POGZpogo transposable element derived with ZNF domain | Bazen (%5–29) | 1 durumda |
| POP1POP1 ribonuclease P/MRP subunit | Bazen (%5–29) | 1 durumda |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Bazen (%5–29) | 2 durumda |
| PRIM1DNA primase subunit 1 | Bazen (%5–29) | 1 durumda |
| SLC32A1solute carrier family 32 member 1 | Bazen (%5–29) | 1 durumda |
| SPRED2sprouty related EVH1 domain containing 2 | Bazen (%5–29) | 1 durumda |
| TAF1TATA-box binding protein associated factor 1 | Bazen (%5–29) | 1 durumda |
| TFAP2Atranscription factor AP-2 alpha | Bazen (%5–29) | 1 durumda |
| TMEM147transmembrane protein 147 | Bazen (%5–29) | 1 durumda |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Bazen (%5–29) | 1 durumda |
| TP63tumor protein p63 | Bazen (%5–29) | 2 durumda |
| TRMT10AtRNA methyltransferase 10A | Bazen (%5–29) | 1 durumda |
| ADAM17ADAM metallopeptidase domain 17 | Kaydedilmedi | 1 durumda |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Kaydedilmedi | 1 durumda |
| AXIN2axin 2 | Kaydedilmedi | 1 durumda |
| B3GALT6beta-1,3-galactosyltransferase 6 | Kaydedilmedi | 1 durumda |
| BRCA1BRCA1 DNA repair associated | Kaydedilmedi | 1 durumda |
| CARS1cysteinyl-tRNA synthetase 1 | Kaydedilmedi | 1 durumda |
| CLDN1claudin 1 | Kaydedilmedi | 1 durumda |
| DCAF17DDB1 and CUL4 associated factor 17 | Kaydedilmedi | 1 durumda |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Kaydedilmedi | 1 durumda |
| DNMT3ADNA methyltransferase 3 alpha | Kaydedilmedi | 1 durumda |
| EBPEBP cholestenol delta-isomerase | Kaydedilmedi | 1 durumda |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kaydedilmedi | 1 durumda |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kaydedilmedi | 1 durumda |
| EXT2exostosin glycosyltransferase 2 | Kaydedilmedi | 1 durumda |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Kaydedilmedi | 1 durumda |
| FRMD4AFERM domain containing 4A | Kaydedilmedi | 1 durumda |
| HOXC13homeobox C13 | Kaydedilmedi | 1 durumda |
| HRHR lysine demethylase and nuclear receptor corepressor | Kaydedilmedi | 1 durumda |
| HRASHRas proto-oncogene, GTPase | Kaydedilmedi | 1 durumda |
| HSPA9heat shock protein family A (Hsp70) member 9 | Kaydedilmedi | 1 durumda |
| KIFBPkinesin family binding protein | Kaydedilmedi | 1 durumda |
| KRT25keratin 25 | Kaydedilmedi | 1 durumda |
| MED12mediator complex subunit 12 | Kaydedilmedi | 1 durumda |
| MPLKIPM-phase specific PLK1 interacting protein | Kaydedilmedi | 1 durumda |
| POC1APOC1 centriolar protein A | Kaydedilmedi | 1 durumda |
| PQBP1polyglutamine binding protein 1 | Kaydedilmedi | 1 durumda |
| SKIC2SKI2 subunit of superkiller complex | Kaydedilmedi | 1 durumda |
| SKIC3SKI3 subunit of superkiller complex | Kaydedilmedi | 1 durumda |
| SLC7A7solute carrier family 7 member 7 | Kaydedilmedi | 1 durumda |
| SMAD4SMAD family member 4 | Kaydedilmedi | 1 durumda |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Kaydedilmedi | 1 durumda |
| XRCC4X-ray repair cross complementing 4 | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha dar özellikler
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.17-8666dff2.
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