Tulajdonság
Paleness
Klinikai név: Pallor
Abnormally pale skin.
Összefoglaló
- Más néven
- Skin paleness
- Szervrendszer
- Abnormality of the integument
Ez az oldal adatként
Adja hozzá a .json végződést az oldal címéhez, vagy kérjen application/json típust, hogy JSON-ként olvassa be.
library(jsonlite)
url <- "https://dantelabs.com/traits/pallor.json"
page <- fromJSON(url)
page$trait$nameOlvassa el a(z) Paleness nevű génhez kapcsolódó információkat, valamint a genomja többi részét egyetlen teszttel.
449 $-tólIngyenes szállítás · Eredmények 6–8 hét alatt
Kérem a Genome Testemet91 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.
- Diamond-Blackfan AnemiaReads 14 of these genesGATA1HEATR3RPL11RPL15RPL26RPL35AAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 9 of these genesMAXRETSDHASDHAF2SDHBSDHCAbout this report →
- ThalassaemiaReads 5 of these genesHBA1HBA2HBBHBG1HBG2About this report →
- Hereditary SpherocytosisReads 5 of these genesANK1EPB42SLC4A1SPTA1SPTBAbout this report →
Show 87 more reports
- Malignant Endocrine NeoplasmReads 5 of these genesMEN1RETSDHASDHAF2SDHBAbout this report →
- PolycythemiaReads 5 of these genesHBA1HBA2HBBEPAS1VHLAbout this report →
- Red Blood Cell Membrane DisordersReads 5 of these genesSLC4A1SPTA1SPTBPIEZO1EPB41About this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Hereditary Episodic AtaxiasReads 3 of these genesCACNA1ASCN2ASLC1A3About this report →
- Hereditary Gastrointestinal Stromal TumourReads 3 of these genesKITSDHBSDHCAbout this report →
- Epilepsy (Full Panel)Reads 20 of these genesPIGAATP1A2ATP1A3CACNA1AGABRA1GABRB3About this report →
- Urinary and Renal System TumourReads 5 of these genesRETSDHASDHAF2SDHBVHLAbout this report →
- Hereditary Sideroblastic AnaemiasReads 4 of these genesABCB7ALAS2YARS2PUS1About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 3 of these genesHBA1HBA2HBBAbout this report →
- OsteopetrosisReads 5 of these genesCLCN7OSTM1SNX10TCIRG1TNFSF11About this report →
- Maturity-Onset Diabetes Of The YoungReads 4 of these genesHNF4AABCC8HNF1AKCNJ11About this report →
- Homocystinuria & Cobalamin DisordersReads 5 of these genesMMADHCAMNCUBNMMACHCPRDX1About this report →
- Congenital Dyserythropoietic AnaemiasReads 2 of these genesKLF1CDIN1About this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- CLCN7-Related Hypopigmentation, Organomegaly and Delayed Myelination (HOD)Reads 1 of these genesCLCN7About this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- G6PD DeficiencyReads 1 of these genesG6PDAbout this report →
- Hereditary Folate MalabsorptionReads 1 of these genesSLC46A1About this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- Hereditary Thrombocythaemia (JAK2)Reads 1 of these genesJAK2About this report →
- KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic MyoclonusReads 1 of these genesKCNQ2About this report →
- MPL-Related Hereditary ThrombocythaemiaReads 1 of these genesMPLAbout this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- SH2B3-Related Immune DysregulationReads 1 of these genesSH2B3About this report →
- Sickle Cell DiseaseReads 1 of these genesHBBAbout this report →
- Tay-Sachs DiseaseReads 1 of these genesHEXAAbout this report →
- Von Hippel-Lindau DiseaseReads 1 of these genesVHLAbout this report →
- X-linked Autoinflammatory DiseaseReads 1 of these genesIKBKGAbout this report →
- Hereditary Optic NeuropathyReads 3 of these genesATP1A3OPA1TMEM126AAbout this report →
- Methylmalonic & Propionic AcidemiaReads 3 of these genesMMADHCMMACHCPRDX1About this report →
- Classic Organic AciduriasReads 2 of these genesACAT1HMGCLAbout this report →
- Diabetes MellitusReads 4 of these genesHNF4AABCC8HNF1AKCNJ11About this report →
- Familial Isolated Pituitary Adenoma (FIPA / X-LAG)Reads 1 of these genesAIPAbout this report →
- Rare Inherited Megaloblastic AnaemiasReads 1 of these genesDHFRAbout this report →
- Kidney CancerReads 2 of these genesSDHBVHLAbout this report →
- HyperinsulinismReads 2 of these genesABCC8KCNJ11About this report →
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsReads 1 of these genesFBP1About this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesRETAbout this report →
- Fanconi Renotubular Syndrome and Renal GlucosuriaReads 1 of these genesHNF4AAbout this report →
- Inherited Predisposition to Myeloid Blood CancersReads 1 of these genesGATA2About this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesDNMT3AAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 7 of these genesMMACHCPRDX1FHSCN9ASDHAHEXAAbout this report →
- Retinitis PigmentosaReads 4 of these genesAGBL5POMGNT1RAX2TTC8About this report →
- Neonatal Diabetes MellitusReads 2 of these genesABCC8KCNJ11About this report →
- Inherited Neurodegenerative DisordersReads 8 of these genesABCB7ATP1A3CACNA1ASDHAALS2HEXAAbout this report →
- Other Inborn Errors of ImmunityReads 6 of these genesGATA2MYD88TET2RAG1RAG2IKBKGAbout this report →
- Renal Tubular AcidosisReads 1 of these genesSLC4A1About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR19About this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 1 of these genesGATA2About this report →
- Congenital Muscular DystrophiesReads 2 of these genesCOL12A1POMGNT1About this report →
- Thyroid CancerReads 2 of these genesMEN1RETAbout this report →
- Severe Combined ImmunodeficiencyReads 2 of these genesRAG1RAG2About this report →
- Hepatic Porphyria DisordersReads 1 of these genesALAS2About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesPKLRAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesMPLGATA1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3CACNA1AAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesATP1A3SLC2A1About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesCACNA1AAbout this report →
- PorphyriaReads 1 of these genesALAS2About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 1 of these genesPTSAbout this report →
- Usher SyndromeReads 1 of these genesCDH23About this report →
- Intellectual DisabilityReads 4 of these genesASXL1SCN2APCDH19CASKAbout this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesCACNA1HAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesHMGCLAbout this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 1 of these genesCDH3About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesPIEZO1About this report →
- Leigh SyndromeReads 2 of these genesSDHAOPA1About this report →
- Ectodermal DysplasiasReads 1 of these genesIKBKGAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesWDR19About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL12A1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesSCN9AAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesLRATAbout this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesTTC8About this report →
- Syndromic CraniosynostosisReads 1 of these genesWDR19About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesPIGAPOMGNT1About this report →
- VitreoretinopathyReads 1 of these genesIKBKGAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesALS2About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesPOMGNT1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesADA2About this report →
- Lysosomal Storage DiseaseReads 1 of these genesHEXAAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesCDH23About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesOPA1About this report →
Olvassa el a(z) Paleness nevű génhez kapcsolódó információkat, valamint a genomja többi részét egyetlen teszttel.
449 $-tólIngyenes szállítás · Eredmények 6–8 hét alatt
Kérem a Genome Testemet145 gén kapcsolódik ehhez: Paleness
Ezeknek a géneknek a változásai olyan ritka betegségeket okoznak, amelyekben előfordul a(z) Paleness. A tulajdonsággal rendelkező emberek többségének nincs ezek közül egyik betegsége sem, a listán szereplő gének pedig semmit nem mondanak el senki saját genomjáról.
| Gén | Milyen gyakran fordul elő | Betegségek |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Mindig | 1 betegségben |
| CALRcalreticulin | Mindig | 2 betegségben |
| CDH3cadherin 3 | Mindig | 1 betegségben |
| JAK2Janus kinase 2 | Mindig | 2 betegségben |
| MPLMPL proto-oncogene, thrombopoietin receptor | Mindig | 2 betegségben |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Mindig | 1 betegségben |
| PKLRpyruvate kinase L/R | Mindig | 1 betegségben |
| SH2B3SH2B adaptor protein 3 | Mindig | 1 betegségben |
| ALAS25'-aminolevulinate synthase 2 | Nagyon gyakran (80–99%) | 1 betegségben |
| CLCN7Cl-/H+ antiporter 7 | Nagyon gyakran (80–99%) | 1 betegségben |
| HBA1hemoglobin subunit alpha 1 | Nagyon gyakran (80–99%) | 1 betegségben |
| HBA2hemoglobin subunit alpha 2 | Nagyon gyakran (80–99%) | 1 betegségben |
| HBBhemoglobin subunit beta | Nagyon gyakran (80–99%) | 5 betegségben |
| HBG1hemoglobin subunit gamma 1 | Nagyon gyakran (80–99%) | 1 betegségben |
| HBG2hemoglobin subunit gamma 2 | Nagyon gyakran (80–99%) | 1 betegségben |
| HNF4Ahepatocyte nuclear factor 4 alpha | Nagyon gyakran (80–99%) | 1 betegségben |
| KLF1KLF transcription factor 1 | Nagyon gyakran (80–99%) | 1 betegségben |
| MMADHCmetabolism of cobalamin associated D | Nagyon gyakran (80–99%) | 1 betegségben |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Nagyon gyakran (80–99%) | 1 betegségben |
| SLC19A2solute carrier family 19 member 2 | Nagyon gyakran (80–99%) | 1 betegségben |
| SLC46A1solute carrier family 46 member 1 | Nagyon gyakran (80–99%) | 1 betegségben |
| SNX10sorting nexin 10 | Nagyon gyakran (80–99%) | 1 betegségben |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Nagyon gyakran (80–99%) | 1 betegségben |
| TNFSF11TNF superfamily member 11 | Nagyon gyakran (80–99%) | 1 betegségben |
| ABCC8ATP binding cassette subfamily C member 8 | Gyakran (30–79%) | 1 betegségben |
| ADA2adenosine deaminase 2 | Gyakran (30–79%) | 1 betegségben |
| AIPAHR interacting HSP90 co-chaperone | Gyakran (30–79%) | 1 betegségben |
| AMNamnion associated transmembrane protein | Gyakran (30–79%) | 1 betegségben |
| ANK1ankyrin 1 | Gyakran (30–79%) | 1 betegségben |
| ASXL1ASXL transcriptional regulator 1 | Gyakran (30–79%) | 1 betegségben |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Gyakran (30–79%) | 1 betegségben |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Gyakran (30–79%) | 1 betegségben |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Gyakran (30–79%) | 2 betegségben |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Gyakran (30–79%) | 1 betegségben |
| CCND1cyclin D1 | Gyakran (30–79%) | 2 betegségben |
| CDH23cadherin related 23 | Gyakran (30–79%) | 2 betegségben |
| CUBNcubilin | Gyakran (30–79%) | 1 betegségben |
| EPB42erythrocyte membrane protein band 4.2 | Gyakran (30–79%) | 1 betegségben |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Gyakran (30–79%) | 2 betegségben |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Gyakran (30–79%) | 1 betegségben |
További 105 gén megjelenítése
| Gén | Milyen gyakran fordul elő | Betegségek |
|---|---|---|
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Gyakran (30–79%) | 2 betegségben |
| GATA1GATA binding protein 1 | Gyakran (30–79%) | 1 betegségben |
| GATA2GATA binding protein 2 | Gyakran (30–79%) | 1 betegségben |
| HEATR3HEAT repeat containing 3 | Gyakran (30–79%) | 1 betegségben |
| HNF1AHNF1 homeobox A | Gyakran (30–79%) | 1 betegségben |
| JRKJrk helix-turn-helix protein | Gyakran (30–79%) | 1 betegségben |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Gyakran (30–79%) | 1 betegségben |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Gyakran (30–79%) | 1 betegségben |
| KITKIT proto-oncogene, receptor tyrosine kinase | Gyakran (30–79%) | 1 betegségben |
| MEN1menin 1 | Gyakran (30–79%) | 1 betegségben |
| MMACHCmetabolism of cobalamin associated C | Gyakran (30–79%) | 1 betegségben |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Gyakran (30–79%) | 1 betegségben |
| MYD88MYD88 innate immune signal transduction adaptor | Gyakran (30–79%) | 1 betegségben |
| PRDX1peroxiredoxin 1 | Gyakran (30–79%) | 1 betegségben |
| RHOBTB2Rho related BTB domain containing 2 | Gyakran (30–79%) | 1 betegségben |
| RPL11ribosomal protein L11 | Gyakran (30–79%) | 1 betegségben |
| RPL15ribosomal protein L15 | Gyakran (30–79%) | 1 betegségben |
| RPL18ribosomal protein L18 | Gyakran (30–79%) | 1 betegségben |
| RPL26ribosomal protein L26 | Gyakran (30–79%) | 1 betegségben |
| RPL27ribosomal protein L27 | Gyakran (30–79%) | 1 betegségben |
| RPL31ribosomal protein L31 | Gyakran (30–79%) | 1 betegségben |
| RPL35ribosomal protein L35 | Gyakran (30–79%) | 1 betegségben |
| RPL35Aribosomal protein L35a | Gyakran (30–79%) | 1 betegségben |
| RPL5ribosomal protein L5 | Gyakran (30–79%) | 1 betegségben |
| RPL8ribosomal protein L8 | Gyakran (30–79%) | 1 betegségben |
| RPL9ribosomal protein L9 | Gyakran (30–79%) | 1 betegségben |
| RPS10ribosomal protein S10 | Gyakran (30–79%) | 1 betegségben |
| RPS15Aribosomal protein S15a | Gyakran (30–79%) | 1 betegségben |
| RPS17ribosomal protein S17 | Gyakran (30–79%) | 1 betegségben |
| RPS19ribosomal protein S19 | Gyakran (30–79%) | 2 betegségben |
| RPS20ribosomal protein S20 | Gyakran (30–79%) | 1 betegségben |
| RPS24ribosomal protein S24 | Gyakran (30–79%) | 1 betegségben |
| RPS26ribosomal protein S26 | Gyakran (30–79%) | 1 betegségben |
| RPS27ribosomal protein S27 | Gyakran (30–79%) | 1 betegségben |
| RPS28ribosomal protein S28 | Gyakran (30–79%) | 1 betegségben |
| RPS29ribosomal protein S29 | Gyakran (30–79%) | 1 betegségben |
| RPS7ribosomal protein S7 | Gyakran (30–79%) | 1 betegségben |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Gyakran (30–79%) | 2 betegségben |
| SF3B1splicing factor 3b subunit 1 | Gyakran (30–79%) | 1 betegségben |
| SLC1A3solute carrier family 1 member 3 | Gyakran (30–79%) | 1 betegségben |
| SLC2A1solute carrier family 2 member 1 | Gyakran (30–79%) | 1 betegségben |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Gyakran (30–79%) | 2 betegségben |
| SPTA1spectrin alpha, erythrocytic 1 | Gyakran (30–79%) | 1 betegségben |
| SPTBspectrin beta, erythrocytic | Gyakran (30–79%) | 1 betegségben |
| SRSF2serine and arginine rich splicing factor 2 | Gyakran (30–79%) | 1 betegségben |
| STEAP3STEAP3 metalloreductase | Gyakran (30–79%) | 2 betegségben |
| TET2tet methylcytosine dioxygenase 2 | Gyakran (30–79%) | 3 betegségben |
| TSR2TSR2 ribosome maturation factor | Gyakran (30–79%) | 1 betegségben |
| UCP2uncoupling protein 2 | Gyakran (30–79%) | 1 betegségben |
| YARS2tyrosyl-tRNA synthetase 2 | Gyakran (30–79%) | 1 betegségben |
| ACAT1acetyl-CoA acetyltransferase 1 | Néha (5–29%) | 1 betegségben |
| COL12A1collagen type XII alpha 1 chain | Néha (5–29%) | 1 betegségben |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Néha (5–29%) | 1 betegségben |
| DLSTdihydrolipoamide S-succinyltransferase | Néha (5–29%) | 1 betegségben |
| DNMT3ADNA methyltransferase 3 alpha | Néha (5–29%) | 1 betegségben |
| EPAS1endothelial PAS domain protein 1 | Néha (5–29%) | 1 betegségben |
| FBP1fructose-bisphosphatase 1 | Néha (5–29%) | 1 betegségben |
| FHfumarate hydratase | Néha (5–29%) | 2 betegségben |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Néha (5–29%) | 2 betegségben |
| KIF1Bkinesin family member 1B | Néha (5–29%) | 1 betegségben |
| KIF23kinesin family member 23 | Néha (5–29%) | 1 betegségben |
| MAXMYC associated transcriptional regulator X | Néha (5–29%) | 1 betegségben |
| MDH2malate dehydrogenase 2 | Néha (5–29%) | 1 betegségben |
| MT-CYBmitochondrially encoded cytochrome b | Néha (5–29%) | 1 betegségben |
| NF1neurofibromin 1 | Néha (5–29%) | 1 betegségben |
| NPRL2NPR2 like, GATOR1 complex subunit | Néha (5–29%) | 1 betegségben |
| NPRL3NPR3 like, GATOR1 complex subunit | Néha (5–29%) | 1 betegségben |
| PCDH19protocadherin 19 | Néha (5–29%) | 1 betegségben |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Néha (5–29%) | 1 betegségben |
| PTS6-pyruvoyltetrahydropterin synthase | Néha (5–29%) | 1 betegségben |
| RACGAP1Rac GTPase activating protein 1 | Néha (5–29%) | 1 betegségben |
| RAG1recombination activating 1 | Néha (5–29%) | 1 betegségben |
| RAG2recombination activating 2 | Néha (5–29%) | 1 betegségben |
| RETret proto-oncogene | Néha (5–29%) | 2 betegségben |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Néha (5–29%) | 1 betegségben |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Néha (5–29%) | 1 betegségben |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Néha (5–29%) | 1 betegségben |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Néha (5–29%) | 1 betegségben |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Néha (5–29%) | 1 betegségben |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Néha (5–29%) | 1 betegségben |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Néha (5–29%) | 2 betegségben |
| SDHCsuccinate dehydrogenase complex subunit C | Néha (5–29%) | 1 betegségben |
| SDHDsuccinate dehydrogenase complex subunit D | Néha (5–29%) | 2 betegségben |
| SLC25A11solute carrier family 25 member 11 | Néha (5–29%) | 1 betegségben |
| TMEM127transmembrane protein 127 | Néha (5–29%) | 1 betegségben |
| VHLvon Hippel-Lindau tumor suppressor | Néha (5–29%) | 3 betegségben |
| ZNF699zinc finger protein 699 | Néha (5–29%) | 1 betegségben |
| AGBL5AGBL carboxypeptidase 5 | Nincs rögzítve | 1 betegségben |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Nincs rögzítve | 1 betegségben |
| CASKcalcium/calmodulin dependent serine protein kinase | Nincs rögzítve | 1 betegségben |
| CDIN1CDAN1 interacting nuclease 1 | Nincs rögzítve | 1 betegségben |
| DHFRdihydrofolate reductase | Nincs rögzítve | 1 betegségben |
| EPB41erythrocyte membrane protein band 4.1 | Nincs rögzítve | 1 betegségben |
| G6PDglucose-6-phosphate dehydrogenase | Nincs rögzítve | 1 betegségben |
| HEXAhexosaminidase subunit alpha | Nincs rögzítve | 1 betegségben |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nincs rögzítve | 1 betegségben |
| LRATlecithin retinol acyltransferase | Nincs rögzítve | 1 betegségben |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Nincs rögzítve | 1 betegségben |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nincs rögzítve | 1 betegségben |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nincs rögzítve | 1 betegségben |
| PUS1pseudouridine synthase 1 | Nincs rögzítve | 1 betegségben |
| RAX2retina and anterior neural fold homeobox 2 | Nincs rögzítve | 1 betegségben |
| TMEM126Atransmembrane protein 126A | Nincs rögzítve | 1 betegségben |
| TTC8tetratricopeptide repeat domain 8 | Nincs rögzítve | 1 betegségben |
| WDR19WD repeat domain 19 | Nincs rögzítve | 1 betegségben |
Az, hogy milyen gyakran fordul elő a gén valamelyik állapotával élő emberek körében (a leggyakoribb érték, ahogyan a Human Phenotype Ontology rögzíti). Ezek az oldalak tulajdonságokat és az azok mögött álló kutatásokat ismertetik; nem diagnózist jelentenek. A tünetekkel kapcsolatban orvoshoz vagy genetikai tanácsadóhoz érdemes fordulni.
Szűkebb tulajdonságok
Tágabb tulajdonságok
Forrás
- Human Phenotype Ontology, 2026-09-01 kiadás: a tulajdonság, a nevei, a definíciója és a hozzá kapcsolt gének. További információ: hpo.jax.org.
- Adatkiadás: 2026.10.17-8666dff2.
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Ingyenes szállítás · Eredmények 6–8 hét alatt
