Požymis
Renal failure
Klinikinis pavadinimas: 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.
Santrauka
- Taip pat vadinama
- Renal failure in adulthood
- Kūno sistema
- Abnormality of the genitourinary system
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/renal-insufficiency.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Renal failure, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test312 genų susiję su Renal failure
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Renal failure. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AGXTalanine--glyoxylate aminotransferase | Visada | 1 ligoje |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Visada | 1 ligoje |
| APRTadenine phosphoribosyltransferase | Visada | 2 ligose |
| BBIP1BBSome interacting protein 1 | Visada | 1 ligoje |
| CEP290centrosomal protein 290 | Visada | 2 ligose |
| CLDN16claudin 16 | Visada | 1 ligoje |
| COL4A3collagen type IV alpha 3 chain | Visada | 4 ligose |
| CPT2carnitine palmitoyltransferase 2 | Visada | 4 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Visada | 2 ligose |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Visada | 3 ligose |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| LAMB2laminin subunit beta 2 | Visada | 2 ligose |
| LYZlysozyme | Visada | 1 ligoje |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Visada | 1 ligoje |
| MDM2MDM2 proto-oncogene | Visada | 1 ligoje |
| NEK8NIMA related kinase 8 | Visada | 3 ligose |
| NPHP3nephrocystin 3 | Visada | 3 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PSKH1protein serine kinase H1 | Visada | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Visada | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Visada | 3 ligose |
| SCARB2scavenger receptor class B member 2 | Visada | 1 ligoje |
| SLC34A1solute carrier family 34 member 1 | Visada | 1 ligoje |
| TMEM67transmembrane protein 67 | Visada | 3 ligose |
| UMODuromodulin | Visada | 1 ligoje |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| BICC1BicC family RNA binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| COL4A1collagen type IV alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| COL4A4collagen type IV alpha 4 chain | Labai dažnai (80–99%) | 3 ligose |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Labai dažnai (80–99%) | 2 ligose |
| FN1fibronectin 1 | Labai dažnai (80–99%) | 2 ligose |
| GANABglucosidase II alpha subunit | Labai dažnai (80–99%) | 1 ligoje |
| GLAgalactosidase alpha | Labai dažnai (80–99%) | 2 ligose |
| HNF1BHNF1 homeobox B | Labai dažnai (80–99%) | 2 ligose |
| IFT140intraflagellar transport 140 | Labai dažnai (80–99%) | 2 ligose |
| LMX1BLIM homeobox transcription factor 1 beta | Labai dažnai (80–99%) | 4 ligose |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Labai dažnai (80–99%) | 2 ligose |
| PAX2paired box 2 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 272 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PKD1polycystin 1, transient receptor potential channel interacting | Labai dažnai (80–99%) | 2 ligose |
| PKD2polycystin 2, transient receptor potential cation channel | Labai dažnai (80–99%) | 2 ligose |
| ACSL4acyl-CoA synthetase long chain family member 4 | Dažnai (30–79%) | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Dažnai (30–79%) | 1 ligoje |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Dažnai (30–79%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Dažnai (30–79%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Dažnai (30–79%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Dažnai (30–79%) | 1 ligoje |
| CCNQcyclin Q | Dažnai (30–79%) | 1 ligoje |
| CFHR5complement factor H related 5 | Dažnai (30–79%) | 1 ligoje |
| CHRM3cholinergic receptor muscarinic 3 | Dažnai (30–79%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 1 ligoje |
| COL4A5collagen type IV alpha 5 chain | Dažnai (30–79%) | 2 ligose |
| CORINcorin, serine peptidase | Dažnai (30–79%) | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Dažnai (30–79%) | 2 ligose |
| DACT1dishevelled binding antagonist of beta catenin 1 | Dažnai (30–79%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Dažnai (30–79%) | 1 ligoje |
| DNASE1L3deoxyribonuclease 1L3 | Dažnai (30–79%) | 1 ligoje |
| DZIP1LDAZ interacting zinc finger protein 1 like | Dažnai (30–79%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 2 ligose |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Dažnai (30–79%) | 2 ligose |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Dažnai (30–79%) | 1 ligoje |
| FLT1fms related receptor tyrosine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| GATA3GATA binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Dažnai (30–79%) | 3 ligose |
| IFT56intraflagellar transport 56 | Dažnai (30–79%) | 1 ligoje |
| IRAK1interleukin 1 receptor associated kinase 1 | Dažnai (30–79%) | 1 ligoje |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Dažnai (30–79%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Dažnai (30–79%) | 1 ligoje |
| LPIN1lipin 1 | Dažnai (30–79%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Dažnai (30–79%) | 1 ligoje |
| MEFVMEFV innate immunity regulator, pyrin | Dažnai (30–79%) | 2 ligose |
| METTL27methyltransferase like 27 | Dažnai (30–79%) | 1 ligoje |
| MMEmembrane metalloendopeptidase | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Dažnai (30–79%) | 1 ligoje |
| MYH9myosin heavy chain 9 | Dažnai (30–79%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Dažnai (30–79%) | 1 ligoje |
| NFS1NFS1 cysteine desulfurase | Dažnai (30–79%) | 1 ligoje |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 3 ligose |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Dažnai (30–79%) | 2 ligose |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Dažnai (30–79%) | 2 ligose |
| PNPLA6patatin like domain 6, lysophospholipase | Dažnai (30–79%) | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Dažnai (30–79%) | 3 ligose |
| RFC2replication factor C subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Dažnai (30–79%) | 2 ligose |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| SCNN1Asodium channel epithelial 1 subunit alpha | Dažnai (30–79%) | 1 ligoje |
| SCNN1Bsodium channel epithelial 1 subunit beta | Dažnai (30–79%) | 2 ligose |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Dažnai (30–79%) | 1 ligoje |
| SHPKsedoheptulokinase | Dažnai (30–79%) | 1 ligoje |
| SLC30A9solute carrier family 30 member 9 | Dažnai (30–79%) | 1 ligoje |
| SLC41A1solute carrier family 41 member 1 | Dažnai (30–79%) | 1 ligoje |
| SPP1secreted phosphoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Dažnai (30–79%) | 2 ligose |
| STOX1storkhead box 1 | Dažnai (30–79%) | 1 ligoje |
| STX1Asyntaxin 1A | Dažnai (30–79%) | 1 ligoje |
| TBL2transducin beta like 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Dažnai (30–79%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Dažnai (30–79%) | 1 ligoje |
| WDR73WD repeat domain 73 | Dažnai (30–79%) | 2 ligose |
| WT1WT1 transcription factor | Dažnai (30–79%) | 3 ligose |
| ZNF592zinc finger protein 592 | Dažnai (30–79%) | 1 ligoje |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Kartais (5–29%) | 1 ligoje |
| ALDOBaldolase, fructose-bisphosphate B | Kartais (5–29%) | 1 ligoje |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Kartais (5–29%) | 1 ligoje |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Kartais (5–29%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Kartais (5–29%) | 1 ligoje |
| AQP2aquaporin 2 | Kartais (5–29%) | 1 ligoje |
| ASLargininosuccinate lyase | Kartais (5–29%) | 1 ligoje |
| AVPR2arginine vasopressin receptor 2 | Kartais (5–29%) | 1 ligoje |
| BNC2basonuclin zinc finger protein 2 | Kartais (5–29%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRD4bromodomain containing 4 | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| BTNL2butyrophilin like 2 | Kartais (5–29%) | 1 ligoje |
| C4Acomplement C4A (Chido/Rodgers blood group) | Kartais (5–29%) | 1 ligoje |
| CALRcalreticulin | Kartais (5–29%) | 1 ligoje |
| CAV1caveolin 1 | Kartais (5–29%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Kartais (5–29%) | 2 ligose |
| CCN2cellular communication network factor 2 | Kartais (5–29%) | 1 ligoje |
| CCR1C-C motif chemokine receptor 1 | Kartais (5–29%) | 1 ligoje |
| CCR6C-C motif chemokine receptor 6 | Kartais (5–29%) | 1 ligoje |
| CDC73cell division cycle 73 | Kartais (5–29%) | 3 ligose |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 1 ligoje |
| CHD4chromodomain helicase DNA binding protein 4 | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| COL7A1collagen type VII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Kartais (5–29%) | 1 ligoje |
| DGKEdiacylglycerol kinase epsilon | Kartais (5–29%) | 1 ligoje |
| DLSTdihydrolipoamide S-succinyltransferase | Kartais (5–29%) | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Kartais (5–29%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Kartais (5–29%) | 2 ligose |
| ELP1elongator acetyltransferase complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| EPAS1endothelial PAS domain protein 1 | Kartais (5–29%) | 1 ligoje |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kartais (5–29%) | 3 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 3 ligose |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Kartais (5–29%) | 1 ligoje |
| F5coagulation factor V | Kartais (5–29%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Kartais (5–29%) | 1 ligoje |
| FANCAFA complementation group A | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FANCCFA complementation group C | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FANCEFA complementation group E | Kartais (5–29%) | 1 ligoje |
| FANCFFA complementation group F | Kartais (5–29%) | 1 ligoje |
| FANCGFA complementation group G | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FANCMFA complementation group M | Kartais (5–29%) | 1 ligoje |
| FASFas cell surface death receptor | Kartais (5–29%) | 2 ligose |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FHfumarate hydratase | Kartais (5–29%) | 1 ligoje |
| FUZfuzzy planar cell polarity protein | Kartais (5–29%) | 1 ligoje |
| FXYD2FXYD domain containing ion transport regulator 2 | Kartais (5–29%) | 1 ligoje |
| GCM2GCM transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| GPR35G protein-coupled receptor 35 | Kartais (5–29%) | 1 ligoje |
| GRHPRglyoxylate and hydroxypyruvate reductase | Kartais (5–29%) | 2 ligose |
| HDAC8histone deacetylase 8 | Kartais (5–29%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 3 ligose |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Kartais (5–29%) | 1 ligoje |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Kartais (5–29%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 3 ligose |
| HPSE2heparanase 2 (inactive) | Kartais (5–29%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Kartais (5–29%) | 1 ligoje |
| IFNGinterferon gamma | Kartais (5–29%) | 1 ligoje |
| IFNGR1interferon gamma receptor 1 | Kartais (5–29%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Kartais (5–29%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Kartais (5–29%) | 1 ligoje |
| IKZF1IKAROS family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| IL10interleukin 10 | Kartais (5–29%) | 1 ligoje |
| IL12Ainterleukin 12A | Kartais (5–29%) | 1 ligoje |
| IL12A-AS1IL12A antisense RNA 1 | Kartais (5–29%) | 1 ligoje |
| IL23Rinterleukin 23 receptor | Kartais (5–29%) | 1 ligoje |
| IL36RNinterleukin 36 receptor antagonist | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 1 ligoje |
| IRF5interferon regulatory factor 5 | Kartais (5–29%) | 1 ligoje |
| JAK2Janus kinase 2 | Kartais (5–29%) | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| KIF1Bkinesin family member 1B | Kartais (5–29%) | 1 ligoje |
| KLRC4killer cell lectin like receptor C4 | Kartais (5–29%) | 1 ligoje |
| LHX1LIM homeobox 1 | Kartais (5–29%) | 1 ligoje |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Kartais (5–29%) | 2 ligose |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| MAXMYC associated transcriptional regulator X | Kartais (5–29%) | 1 ligoje |
| MDH2malate dehydrogenase 2 | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| MEN1menin 1 | Kartais (5–29%) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Kartais (5–29%) | 2 ligose |
| MMP1matrix metallopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| MMUTmethylmalonyl-CoA mutase | Kartais (5–29%) | 2 ligose |
| MOCOSmolybdenum cofactor sulfurase | Kartais (5–29%) | 1 ligoje |
| MST1macrophage stimulating 1 | Kartais (5–29%) | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Kartais (5–29%) | 1 ligoje |
| MYD88MYD88 innate immune signal transduction adaptor | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Kartais (5–29%) | 1 ligoje |
| OCLNoccludin | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PAX6paired box 6 | Kartais (5–29%) | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Kartais (5–29%) | 1 ligoje |
| PGK1phosphoglycerate kinase 1 | Kartais (5–29%) | 2 ligose |
| PHYHphytanoyl-CoA 2-hydroxylase | Kartais (5–29%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Kartais (5–29%) | 1 ligoje |
| PRTN3proteinase 3 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 2 ligose |
| RAD21RAD21 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RETret proto-oncogene | Kartais (5–29%) | 2 ligose |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SAA1serum amyloid A1 | Kartais (5–29%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Kartais (5–29%) | 1 ligoje |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Kartais (5–29%) | 2 ligose |
| SDHCsuccinate dehydrogenase complex subunit C | Kartais (5–29%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Kartais (5–29%) | 2 ligose |
| SEMA4Dsemaphorin 4D | Kartais (5–29%) | 1 ligoje |
| SIX1SIX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SIX5SIX homeobox 5 | Kartais (5–29%) | 2 ligose |
| SLC25A11solute carrier family 25 member 11 | Kartais (5–29%) | 1 ligoje |
| SLC5A1solute carrier family 5 member 1 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Kartais (5–29%) | 1 ligoje |
| STSsteroid sulfatase | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TBX18T-box transcription factor 18 | Kartais (5–29%) | 1 ligoje |
| TCF4transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TLR4toll like receptor 4 | Kartais (5–29%) | 1 ligoje |
| TMEM127transmembrane protein 127 | Kartais (5–29%) | 1 ligoje |
| TMEM138transmembrane protein 138 | Kartais (5–29%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Kartais (5–29%) | 2 ligose |
| TMEM231transmembrane protein 231 | Kartais (5–29%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Kartais (5–29%) | 2 ligose |
| TSC1TSC complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| TSC2TSC complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| TTC21Btetratricopeptide repeat domain 21B | Kartais (5–29%) | 1 ligoje |
| UBAC2UBA domain containing 2 | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| VANGL1VANGL planar cell polarity protein 1 | Kartais (5–29%) | 1 ligoje |
| VHLvon Hippel-Lindau tumor suppressor | Kartais (5–29%) | 2 ligose |
| WDR19WD repeat domain 19 | Kartais (5–29%) | 1 ligoje |
| XIAPX-linked inhibitor of apoptosis | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ZNF423zinc finger protein 423 | Kartais (5–29%) | 1 ligoje |
| ZNFX1zinc finger NFX1-type containing 1 | Kartais (5–29%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Retai (1–4 %) | 1 ligoje |
| CASP10caspase 10 | Retai (1–4 %) | 1 ligoje |
| FASLGFas ligand | Retai (1–4 %) | 1 ligoje |
| PBX1PBX homeobox 1 | Retai (1–4 %) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Neužfiksuota | 1 ligoje |
| APOEapolipoprotein E | Neužfiksuota | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Neužfiksuota | 1 ligoje |
| BSNDbarttin CLCNK type accessory subunit beta | Neužfiksuota | 1 ligoje |
| C3complement C3 | Neužfiksuota | 1 ligoje |
| CD2APCD2 associated protein | Neužfiksuota | 1 ligoje |
| CFIcomplement factor I | Neužfiksuota | 1 ligoje |
| CLCN5Cl-/H+ antiporter 5 | Neužfiksuota | 4 ligose |
| CLCNKAchloride voltage-gated channel Ka | Neužfiksuota | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Neužfiksuota | 1 ligoje |
| CLDN10claudin 10 | Neužfiksuota | 1 ligoje |
| CRB2crumbs cell polarity complex component 2 | Neužfiksuota | 1 ligoje |
| FAHfumarylacetoacetate hydrolase | Neužfiksuota | 1 ligoje |
| GATMglycine amidinotransferase | Neužfiksuota | 1 ligoje |
| GSNgelsolin | Neužfiksuota | 1 ligoje |
| HBBhemoglobin subunit beta | Neužfiksuota | 1 ligoje |
| HOXA13homeobox A13 | Neužfiksuota | 1 ligoje |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Neužfiksuota | 1 ligoje |
| ITGA3integrin subunit alpha 3 | Neužfiksuota | 1 ligoje |
| LCATlecithin-cholesterol acyltransferase | Neužfiksuota | 1 ligoje |
| LDHAlactate dehydrogenase A | Neužfiksuota | 1 ligoje |
| MLXIPLMLX interacting protein like | Neužfiksuota | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Neužfiksuota | 1 ligoje |
| NOTCH2notch receptor 2 | Neužfiksuota | 1 ligoje |
| NPHS1NPHS1 adhesion molecule, nephrin | Neužfiksuota | 1 ligoje |
| PGAM2phosphoglycerate mutase 2 | Neužfiksuota | 1 ligoje |
| PRDX1peroxiredoxin 1 | Neužfiksuota | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Neužfiksuota | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Neužfiksuota | 1 ligoje |
| SLC3A1solute carrier family 3 member 1 | Neužfiksuota | 1 ligoje |
| SLC7A9solute carrier family 7 member 9 | Neužfiksuota | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Neužfiksuota | 1 ligoje |
| SOX18SRY-box transcription factor 18 | Neužfiksuota | 1 ligoje |
| TMEM260transmembrane protein 260 | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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