Tunnus
Slowed or blocked flow of bile from liver
Kliiniline nimetus: Cholestasis
Impairment of bile flow due to obstruction in bile ducts.
Kokkuvõte
- Kehasüsteem
- Abnormality of the digestive system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Slowed or blocked flow of bile from liver, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test81 geeni on seotud tunnusega Slowed or blocked flow of bile from liver
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Slowed or blocked flow of bile from liver. 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 |
|---|---|---|
| ABCB4ATP binding cassette subfamily B member 4 | Alati | Esineb 1 haiguses |
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| ARG1arginase 1 | Alati | Esineb 1 haiguses |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alati | Esineb 1 haiguses |
| CLDN1claudin 1 | Alati | Esineb 2 haiguses |
| DCDC2doublecortin domain containing 2 | Alati | Esineb 3 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alati | Esineb 1 haiguses |
| GFM1G elongation factor mitochondrial 1 | Alati | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Alati | Esineb 1 haiguses |
| KIF12kinesin family member 12 | Alati | Esineb 1 haiguses |
| LBRlamin B receptor | Alati | Esineb 1 haiguses |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| MARS1methionyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Alati | Esineb 1 haiguses |
| POLG2DNA polymerase gamma 2, accessory subunit | Alati | Esineb 1 haiguses |
| PSKH1protein serine kinase H1 | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TFAMtranscription factor A, mitochondrial | Alati | Esineb 1 haiguses |
| UNC45Aunc-45 myosin chaperone A | Alati | Esineb 1 haiguses |
| USP53ubiquitin specific peptidase 53 | Alati | Esineb 1 haiguses |
| VPS33BVPS33B late endosome and lysosome associated | Alati | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCAP31B cell receptor associated protein 31 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Väga sageli (80–99%) | Esineb 3 haiguses |
| CYP7A1cytochrome P450 family 7 subfamily A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPR35G protein-coupled receptor 35 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MST1macrophage stimulating 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Väga sageli (80–99%) | Esineb 2 haiguses |
| SEMA4Dsemaphorin 4D | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC25A13solute carrier family 25 member 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADKadenosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| AKR1D1aldo-keto reductase family 1 member D1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Sageli (30–79%) | Esineb 1 haiguses |
| CEP83centrosomal protein 83 | Sageli (30–79%) | Esineb 1 haiguses |
| COG6component of oligomeric golgi complex 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DEF6DEF6 guanine nucleotide exchange factor | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 41 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DZIP1LDAZ interacting zinc finger protein 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| IARS1isoleucyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT56intraflagellar transport 56 | Sageli (30–79%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POMCproopiomelanocortin | Sageli (30–79%) | Esineb 2 haiguses |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RFX6regulatory factor X6 | Sageli (30–79%) | Esineb 1 haiguses |
| SAA1serum amyloid A1 | Sageli (30–79%) | Esineb 1 haiguses |
| SHPKsedoheptulokinase | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Sageli (30–79%) | Esineb 1 haiguses |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHRSXdehydrogenase/reductase X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALMgalactose mutarotase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT54intraflagellar transport 54 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| SERPINA1serpin family A member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNASGNAS complex locus | Harva (1–4%) | Esineb 1 haiguses |
| BLVRAbiliverdin reductase A | Pole registreeritud | Esineb 1 haiguses |
| FGAfibrinogen alpha chain | Pole registreeritud | Esineb 1 haiguses |
| GLIS3GLIS family zinc finger 3 | Pole registreeritud | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Pole registreeritud | Esineb 1 haiguses |
| INSRinsulin receptor | Pole registreeritud | Esineb 1 haiguses |
| NEK8NIMA related kinase 8 | Pole registreeritud | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| RINT1RAD50 interactor 1 | Pole registreeritud | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Pole registreeritud | Esineb 1 haiguses |
| TBX19T-box transcription factor 19 | 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast