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Tunnus
Renal failure
Kliiniline nimetus: Renal insufficiency
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Kokkuvõte
- Teised nimetused
- Renal failure in adulthood
- Kehasüsteem
- Abnormality of the genitourinary system
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/renal-insufficiency.json"
page <- fromJSON(url)
page$trait$nameRenal failureHP:0000083
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Lugege välja geenid, mis on seotud Renal failure-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test312 geeni on seotud tunnusega Renal failure
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Renal failure. 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 |
|---|---|---|
| AGXTalanine--glyoxylate aminotransferase | Alati | Esineb 1 haiguses |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Alati | Esineb 1 haiguses |
| APRTadenine phosphoribosyltransferase | Alati | Esineb 2 haiguses |
| BBIP1BBSome interacting protein 1 | Alati | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Alati | Esineb 2 haiguses |
| CLDN16claudin 16 | Alati | Esineb 1 haiguses |
| COL4A3collagen type IV alpha 3 chain | Alati | Esineb 4 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Alati | Esineb 4 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Alati | Esineb 2 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alati | Esineb 3 haiguses |
| KDM6Alysine demethylase 6A | Alati | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Alati | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Alati | Esineb 2 haiguses |
| LYZlysozyme | Alati | Esineb 1 haiguses |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Alati | Esineb 1 haiguses |
| MDM2MDM2 proto-oncogene | Alati | Esineb 1 haiguses |
| NEK8NIMA related kinase 8 | Alati | Esineb 3 haiguses |
| NPHP3nephrocystin 3 | Alati | Esineb 3 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| PSKH1protein serine kinase H1 | Alati | Esineb 1 haiguses |
| RMND1required for meiotic nuclear division 1 homolog | Alati | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Alati | Esineb 3 haiguses |
| SCARB2scavenger receptor class B member 2 | Alati | Esineb 1 haiguses |
| SLC34A1solute carrier family 34 member 1 | Alati | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Alati | Esineb 3 haiguses |
| UMODuromodulin | Alati | Esineb 1 haiguses |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| BICC1BicC family RNA binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL4A1collagen type IV alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL4A4collagen type IV alpha 4 chain | Väga sageli (80–99%) | Esineb 3 haiguses |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FN1fibronectin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GANABglucosidase II alpha subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| GLAgalactosidase alpha | Väga sageli (80–99%) | Esineb 2 haiguses |
| HNF1BHNF1 homeobox B | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT140intraflagellar transport 140 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Väga sageli (80–99%) | Esineb 4 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Väga sageli (80–99%) | Esineb 2 haiguses |
| PAX2paired box 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 272 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PKD1polycystin 1, transient receptor potential channel interacting | Väga sageli (80–99%) | Esineb 2 haiguses |
| PKD2polycystin 2, transient receptor potential cation channel | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACSL4acyl-CoA synthetase long chain family member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Sageli (30–79%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sageli (30–79%) | Esineb 1 haiguses |
| CCNQcyclin Q | Sageli (30–79%) | Esineb 1 haiguses |
| CFHR5complement factor H related 5 | Sageli (30–79%) | Esineb 1 haiguses |
| CHRM3cholinergic receptor muscarinic 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COL4A5collagen type IV alpha 5 chain | Sageli (30–79%) | Esineb 2 haiguses |
| CORINcorin, serine peptidase | Sageli (30–79%) | Esineb 1 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Sageli (30–79%) | Esineb 2 haiguses |
| DACT1dishevelled binding antagonist of beta catenin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sageli (30–79%) | Esineb 1 haiguses |
| DNASE1L3deoxyribonuclease 1L3 | Sageli (30–79%) | Esineb 1 haiguses |
| DZIP1LDAZ interacting zinc finger protein 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 2 haiguses |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Sageli (30–79%) | Esineb 2 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sageli (30–79%) | Esineb 1 haiguses |
| FLT1fms related receptor tyrosine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA3GATA binding protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Sageli (30–79%) | Esineb 1 haiguses |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Sageli (30–79%) | Esineb 3 haiguses |
| IFT56intraflagellar transport 56 | Sageli (30–79%) | Esineb 1 haiguses |
| IRAK1interleukin 1 receptor associated kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KCTD1potassium channel tetramerization domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LPIN1lipin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Sageli (30–79%) | Esineb 1 haiguses |
| MEFVMEFV innate immunity regulator, pyrin | Sageli (30–79%) | Esineb 2 haiguses |
| METTL27methyltransferase like 27 | Sageli (30–79%) | Esineb 1 haiguses |
| MMEmembrane metalloendopeptidase | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Sageli (30–79%) | Esineb 1 haiguses |
| MYH9myosin heavy chain 9 | Sageli (30–79%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NFS1NFS1 cysteine desulfurase | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Sageli (30–79%) | Esineb 3 haiguses |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Sageli (30–79%) | Esineb 2 haiguses |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sageli (30–79%) | Esineb 2 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Sageli (30–79%) | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Sageli (30–79%) | Esineb 3 haiguses |
| RFC2replication factor C subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SALL1spalt like transcription factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCNN1Asodium channel epithelial 1 subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| SCNN1Bsodium channel epithelial 1 subunit beta | Sageli (30–79%) | Esineb 2 haiguses |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Sageli (30–79%) | Esineb 1 haiguses |
| SHPKsedoheptulokinase | Sageli (30–79%) | Esineb 1 haiguses |
| SLC30A9solute carrier family 30 member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC41A1solute carrier family 41 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPP1secreted phosphoprotein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT4signal transducer and activator of transcription 4 | Sageli (30–79%) | Esineb 2 haiguses |
| STOX1storkhead box 1 | Sageli (30–79%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Sageli (30–79%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Sageli (30–79%) | Esineb 1 haiguses |
| WDR73WD repeat domain 73 | Sageli (30–79%) | Esineb 2 haiguses |
| WT1WT1 transcription factor | Sageli (30–79%) | Esineb 3 haiguses |
| ZNF592zinc finger protein 592 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDOBaldolase, fructose-bisphosphate B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AQP2aquaporin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASLargininosuccinate lyase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AVPR2arginine vasopressin receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BNC2basonuclin zinc finger protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA1BRCA1 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRIP1BRCA1 interacting DNA helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BTNL2butyrophilin like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| C4Acomplement C4A (Chido/Rodgers blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| CALRcalreticulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAV1caveolin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Mõnikord (5–29%) | Esineb 2 haiguses |
| CCN2cellular communication network factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCR1C-C motif chemokine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCR6C-C motif chemokine receptor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC73cell division cycle 73 | Mõnikord (5–29%) | Esineb 3 haiguses |
| CEP120centrosomal protein 120 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD4chromodomain helicase DNA binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL7A1collagen type VII alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGKEdiacylglycerol kinase epsilon | 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 |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ELP1elongator acetyltransferase complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPAS1endothelial PAS domain protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Mõnikord (5–29%) | Esineb 3 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Mõnikord (5–29%) | Esineb 3 haiguses |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| F5coagulation factor V | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCAFA complementation group A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCBFA complementation group B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCCFA complementation group C | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCD2FA complementation group D2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCEFA complementation group E | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCFFA complementation group F | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCGFA complementation group G | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCIFA complementation group I | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCLFA complementation group L | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCMFA complementation group M | Mõnikord (5–29%) | Esineb 1 haiguses |
| FASFas cell surface death receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FHfumarate hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FUZfuzzy planar cell polarity protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| FXYD2FXYD domain containing ion transport regulator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GCM2GCM transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPR35G protein-coupled receptor 35 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRHPRglyoxylate and hydroxypyruvate reductase | Mõnikord (5–29%) | Esineb 2 haiguses |
| HDAC8histone deacetylase 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 3 haiguses |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| HPSE2heparanase 2 (inactive) | Mõnikord (5–29%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFNGinterferon gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFNGR1interferon gamma receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT80intraflagellar transport 80 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IKZF1IKAROS family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL10interleukin 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12Ainterleukin 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12A-AS1IL12A antisense RNA 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL23Rinterleukin 23 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL36RNinterleukin 36 receptor antagonist | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF5interferon regulatory factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JAK2Janus kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF1Bkinesin family member 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLRC4killer cell lectin like receptor C4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX1LIM homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAD2L2mitotic arrest deficient 2 like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | 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 |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEN1menin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Mõnikord (5–29%) | Esineb 2 haiguses |
| MMP1matrix metallopeptidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMUTmethylmalonyl-CoA mutase | Mõnikord (5–29%) | Esineb 2 haiguses |
| MOCOSmolybdenum cofactor sulfurase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MST1macrophage stimulating 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYD88MYD88 innate immune signal transduction adaptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCLNoccludin | Mõnikord (5–29%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PALB2partner and localizer of BRCA2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX6paired box 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGK1phosphoglycerate kinase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PHYHphytanoyl-CoA 2-hydroxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRTN3proteinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RAD21RAD21 cohesin complex component | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD51RAD51 recombinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD51CRAD51 paralog C | Mõnikord (5–29%) | Esineb 1 haiguses |
| RETret proto-oncogene | Mõnikord (5–29%) | Esineb 2 haiguses |
| RFWD3ring finger and WD repeat domain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAA1serum amyloid A1 | 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 |
| SEMA4Dsemaphorin 4D | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX1SIX homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX5SIX homeobox 5 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC25A11solute carrier family 25 member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC5A1solute carrier family 5 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLX4SLX4 structure-specific endonuclease subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STSsteroid sulfatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX18T-box transcription factor 18 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TLR4toll like receptor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM127transmembrane protein 127 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM138transmembrane protein 138 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TMEM231transmembrane protein 231 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TSC1TSC complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSC2TSC complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC21Btetratricopeptide repeat domain 21B | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBAC2UBA domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2Tubiquitin conjugating enzyme E2 T | Mõnikord (5–29%) | Esineb 1 haiguses |
| VANGL1VANGL planar cell polarity protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | Mõnikord (5–29%) | Esineb 2 haiguses |
| WDR19WD repeat domain 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XIAPX-linked inhibitor of apoptosis | Mõnikord (5–29%) | Esineb 1 haiguses |
| XRCC2X-ray repair cross complementing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF423zinc finger protein 423 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNFX1zinc finger NFX1-type containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Harva (1–4%) | Esineb 1 haiguses |
| CASP10caspase 10 | Harva (1–4%) | Esineb 1 haiguses |
| FASLGFas ligand | Harva (1–4%) | Esineb 1 haiguses |
| PBX1PBX homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Pole registreeritud | Esineb 1 haiguses |
| APOEapolipoprotein E | Pole registreeritud | Esineb 1 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Pole registreeritud | Esineb 1 haiguses |
| BSNDbarttin CLCNK type accessory subunit beta | Pole registreeritud | Esineb 1 haiguses |
| C3complement C3 | Pole registreeritud | Esineb 1 haiguses |
| CD2APCD2 associated protein | Pole registreeritud | Esineb 1 haiguses |
| CFIcomplement factor I | Pole registreeritud | Esineb 1 haiguses |
| CLCN5Cl-/H+ antiporter 5 | Pole registreeritud | Esineb 4 haiguses |
| CLCNKAchloride voltage-gated channel Ka | Pole registreeritud | Esineb 1 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Pole registreeritud | Esineb 1 haiguses |
| CLDN10claudin 10 | Pole registreeritud | Esineb 1 haiguses |
| CRB2crumbs cell polarity complex component 2 | Pole registreeritud | Esineb 1 haiguses |
| FAHfumarylacetoacetate hydrolase | Pole registreeritud | Esineb 1 haiguses |
| GATMglycine amidinotransferase | Pole registreeritud | Esineb 1 haiguses |
| GSNgelsolin | Pole registreeritud | Esineb 1 haiguses |
| HBBhemoglobin subunit beta | Pole registreeritud | Esineb 1 haiguses |
| HOXA13homeobox A13 | Pole registreeritud | Esineb 1 haiguses |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| ITGA3integrin subunit alpha 3 | Pole registreeritud | Esineb 1 haiguses |
| LCATlecithin-cholesterol acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| LDHAlactate dehydrogenase A | Pole registreeritud | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Pole registreeritud | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Pole registreeritud | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| NPHS1NPHS1 adhesion molecule, nephrin | Pole registreeritud | Esineb 1 haiguses |
| PGAM2phosphoglycerate mutase 2 | Pole registreeritud | Esineb 1 haiguses |
| PRDX1peroxiredoxin 1 | Pole registreeritud | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Pole registreeritud | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Pole registreeritud | Esineb 1 haiguses |
| SLC3A1solute carrier family 3 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC7A9solute carrier family 7 member 9 | Pole registreeritud | Esineb 1 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Pole registreeritud | Esineb 1 haiguses |
| SOX18SRY-box transcription factor 18 | Pole registreeritud | Esineb 1 haiguses |
| TMEM260transmembrane protein 260 | Pole registreeritud | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | 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 2026.10.16-c6eea6bf.
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