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Tunnus
Paleness
Kliiniline nimetus: Pallor
Abnormally pale skin.
Kokkuvõte
- Teised nimetused
- Skin paleness
- Kehasüsteem
- Abnormality of the integument
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/pallor.json"
page <- fromJSON(url)
page$trait$namePalenessHP:0000980
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Paleness-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test145 geeni on seotud tunnusega Paleness
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Paleness. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alati | Esineb 1 haiguses |
| CALRcalreticulin | Alati | Esineb 2 haiguses |
| CDH3cadherin 3 | Alati | Esineb 1 haiguses |
| JAK2Janus kinase 2 | Alati | Esineb 2 haiguses |
| MPLMPL proto-oncogene, thrombopoietin receptor | Alati | Esineb 2 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| PKLRpyruvate kinase L/R | Alati | Esineb 1 haiguses |
| SH2B3SH2B adaptor protein 3 | Alati | Esineb 1 haiguses |
| ALAS25'-aminolevulinate synthase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HBA1hemoglobin subunit alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HBA2hemoglobin subunit alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HBBhemoglobin subunit beta | Väga sageli (80–99%) | Esineb 5 haiguses |
| HBG1hemoglobin subunit gamma 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HBG2hemoglobin subunit gamma 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HNF4Ahepatocyte nuclear factor 4 alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLF1KLF transcription factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMADHCmetabolism of cobalamin associated D | Väga sageli (80–99%) | Esineb 1 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC19A2solute carrier family 19 member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC46A1solute carrier family 46 member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNX10sorting nexin 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| AMNamnion associated transmembrane protein | Sageli (30–79%) | Esineb 1 haiguses |
| ANK1ankyrin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sageli (30–79%) | Esineb 2 haiguses |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Sageli (30–79%) | Esineb 1 haiguses |
| CCND1cyclin D1 | Sageli (30–79%) | Esineb 2 haiguses |
| CDH23cadherin related 23 | Sageli (30–79%) | Esineb 2 haiguses |
| CUBNcubilin | Sageli (30–79%) | Esineb 1 haiguses |
| EPB42erythrocyte membrane protein band 4.2 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Sageli (30–79%) | Esineb 2 haiguses |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 105 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sageli (30–79%) | Esineb 2 haiguses |
| GATA1GATA binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA2GATA binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HEATR3HEAT repeat containing 3 | Sageli (30–79%) | Esineb 1 haiguses |
| HNF1AHNF1 homeobox A | Sageli (30–79%) | Esineb 1 haiguses |
| JRKJrk helix-turn-helix protein | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KITKIT proto-oncogene, receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| MEN1menin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MYD88MYD88 innate immune signal transduction adaptor | Sageli (30–79%) | Esineb 1 haiguses |
| PRDX1peroxiredoxin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL15ribosomal protein L15 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL18ribosomal protein L18 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL26ribosomal protein L26 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL27ribosomal protein L27 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL31ribosomal protein L31 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL35ribosomal protein L35 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL35Aribosomal protein L35a | Sageli (30–79%) | Esineb 1 haiguses |
| RPL5ribosomal protein L5 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL8ribosomal protein L8 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL9ribosomal protein L9 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS10ribosomal protein S10 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS15Aribosomal protein S15a | Sageli (30–79%) | Esineb 1 haiguses |
| RPS17ribosomal protein S17 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS19ribosomal protein S19 | Sageli (30–79%) | Esineb 2 haiguses |
| RPS20ribosomal protein S20 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS24ribosomal protein S24 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS26ribosomal protein S26 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS27ribosomal protein S27 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS28ribosomal protein S28 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS29ribosomal protein S29 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS7ribosomal protein S7 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SF3B1splicing factor 3b subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC1A3solute carrier family 1 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Sageli (30–79%) | Esineb 2 haiguses |
| SPTA1spectrin alpha, erythrocytic 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPTBspectrin beta, erythrocytic | Sageli (30–79%) | Esineb 1 haiguses |
| SRSF2serine and arginine rich splicing factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| STEAP3STEAP3 metalloreductase | Sageli (30–79%) | Esineb 2 haiguses |
| TET2tet methylcytosine dioxygenase 2 | Sageli (30–79%) | Esineb 3 haiguses |
| TSR2TSR2 ribosome maturation factor | Sageli (30–79%) | Esineb 1 haiguses |
| UCP2uncoupling protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| YARS2tyrosyl-tRNA synthetase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ACAT1acetyl-CoA acetyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLSTdihydrolipoamide S-succinyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPAS1endothelial PAS domain protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBP1fructose-bisphosphatase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FHfumarate hydratase | Mõnikord (5–29%) | Esineb 2 haiguses |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF1Bkinesin family member 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF23kinesin family member 23 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAXMYC associated transcriptional regulator X | Mõnikord (5–29%) | Esineb 1 haiguses |
| MDH2malate dehydrogenase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPRL2NPR2 like, GATOR1 complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPRL3NPR3 like, GATOR1 complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCDH19protocadherin 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTS6-pyruvoyltetrahydropterin synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RACGAP1Rac GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAG1recombination activating 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAG2recombination activating 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RETret proto-oncogene | Mõnikord (5–29%) | Esineb 2 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Mõnikord (5–29%) | Esineb 2 haiguses |
| SDHCsuccinate dehydrogenase complex subunit C | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC25A11solute carrier family 25 member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM127transmembrane protein 127 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | Mõnikord (5–29%) | Esineb 3 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Pole registreeritud | Esineb 1 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Pole registreeritud | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Pole registreeritud | Esineb 1 haiguses |
| CDIN1CDAN1 interacting nuclease 1 | Pole registreeritud | Esineb 1 haiguses |
| DHFRdihydrofolate reductase | Pole registreeritud | Esineb 1 haiguses |
| EPB41erythrocyte membrane protein band 4.1 | Pole registreeritud | Esineb 1 haiguses |
| G6PDglucose-6-phosphate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| HEXAhexosaminidase subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Pole registreeritud | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Pole registreeritud | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Pole registreeritud | Esineb 1 haiguses |
| PUS1pseudouridine synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| RAX2retina and anterior neural fold homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| TMEM126Atransmembrane protein 126A | Pole registreeritud | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Pole registreeritud | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.17-8666dff2.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast