Požymis
Slowed or blocked flow of bile from liver
Klinikinis pavadinimas: Cholestasis
Impairment of bile flow due to obstruction in bile ducts.
Santrauka
- Kūno sistema
- Abnormality of the digestive system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test81 genas susijęs su Slowed or blocked flow of bile from liver
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Slowed or blocked flow of bile from liver. 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 |
|---|---|---|
| ABCB4ATP binding cassette subfamily B member 4 | Visada | 1 ligoje |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| ARG1arginase 1 | Visada | 1 ligoje |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Visada | 1 ligoje |
| CLDN1claudin 1 | Visada | 2 ligose |
| DCDC2doublecortin domain containing 2 | Visada | 3 ligose |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| GFM1G elongation factor mitochondrial 1 | Visada | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Visada | 1 ligoje |
| KIF12kinesin family member 12 | Visada | 1 ligoje |
| LBRlamin B receptor | Visada | 1 ligoje |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Visada | 1 ligoje |
| PSKH1protein serine kinase H1 | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| TFAMtranscription factor A, mitochondrial | Visada | 1 ligoje |
| UNC45Aunc-45 myosin chaperone A | Visada | 1 ligoje |
| USP53ubiquitin specific peptidase 53 | Visada | 1 ligoje |
| VPS33BVPS33B late endosome and lysosome associated | Visada | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Labai dažnai (80–99%) | 1 ligoje |
| BCAP31B cell receptor associated protein 31 | Labai dažnai (80–99%) | 1 ligoje |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Labai dažnai (80–99%) | 3 ligose |
| CYP7A1cytochrome P450 family 7 subfamily A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| GPR35G protein-coupled receptor 35 | Labai dažnai (80–99%) | 1 ligoje |
| MST1macrophage stimulating 1 | Labai dažnai (80–99%) | 1 ligoje |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Labai dažnai (80–99%) | 2 ligose |
| SEMA4Dsemaphorin 4D | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A13solute carrier family 25 member 13 | Labai dažnai (80–99%) | 1 ligoje |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| ADKadenosine kinase | Dažnai (30–79%) | 1 ligoje |
| AKR1D1aldo-keto reductase family 1 member D1 | Dažnai (30–79%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Dažnai (30–79%) | 1 ligoje |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Dažnai (30–79%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Dažnai (30–79%) | 1 ligoje |
| CEP83centrosomal protein 83 | Dažnai (30–79%) | 1 ligoje |
| COG6component of oligomeric golgi complex 6 | Dažnai (30–79%) | 1 ligoje |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Dažnai (30–79%) | 1 ligoje |
| DEF6DEF6 guanine nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 41 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DZIP1LDAZ interacting zinc finger protein 1 like | Dažnai (30–79%) | 1 ligoje |
| IARS1isoleucyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| IFT56intraflagellar transport 56 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Dažnai (30–79%) | 1 ligoje |
| POMCproopiomelanocortin | Dažnai (30–79%) | 2 ligose |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Dažnai (30–79%) | 1 ligoje |
| RFX6regulatory factor X6 | Dažnai (30–79%) | 1 ligoje |
| SAA1serum amyloid A1 | Dažnai (30–79%) | 1 ligoje |
| SHPKsedoheptulokinase | Dažnai (30–79%) | 1 ligoje |
| TMEM67transmembrane protein 67 | Dažnai (30–79%) | 1 ligoje |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Kartais (5–29%) | 1 ligoje |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Kartais (5–29%) | 1 ligoje |
| DHRSXdehydrogenase/reductase X-linked | Kartais (5–29%) | 1 ligoje |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| GALMgalactose mutarotase | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 2 ligose |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Kartais (5–29%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Kartais (5–29%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Kartais (5–29%) | 1 ligoje |
| IFT54intraflagellar transport 54 | Kartais (5–29%) | 1 ligoje |
| NPHP3nephrocystin 3 | Kartais (5–29%) | 2 ligose |
| PEX2peroxisomal biogenesis factor 2 | Kartais (5–29%) | 1 ligoje |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Kartais (5–29%) | 1 ligoje |
| SERPINA1serpin family A member 1 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| GNASGNAS complex locus | Retai (1–4 %) | 1 ligoje |
| BLVRAbiliverdin reductase A | Neužfiksuota | 1 ligoje |
| FGAfibrinogen alpha chain | Neužfiksuota | 1 ligoje |
| GLIS3GLIS family zinc finger 3 | Neužfiksuota | 1 ligoje |
| IFT172intraflagellar transport 172 | Neužfiksuota | 1 ligoje |
| INSRinsulin receptor | Neužfiksuota | 1 ligoje |
| NEK8NIMA related kinase 8 | Neužfiksuota | 1 ligoje |
| NOTCH2notch receptor 2 | Neužfiksuota | 1 ligoje |
| RINT1RAD50 interactor 1 | Neužfiksuota | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Neužfiksuota | 1 ligoje |
| TBX19T-box transcription factor 19 | 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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