ATP8B1
HGNC:3706 · SaudiVarKB evidence summary derived from retained literature mentions.
8Gene mentions
8Publications
2Linked variants
22Associated phenotypes
Associated phenotypes
Co-mentioned in ATP8B1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| colorectal cancer | — | 2 | 2 |
| obesity | HP:0001513 | 1 | 1 |
| intellectual disability | HP:0001249 | 1 | 1 |
| leukemia | — | 1 | 1 |
| epilepsy | HP:0001250 | 1 | 1 |
| hypertension | — | 1 | 1 |
| rheumatoid arthritis | — | 1 | 1 |
| autism spectrum disorder | HP:0000729 | 1 | 1 |
| pre-eclampsia | — | 1 | 1 |
| ovarian cancer | — | 1 | 1 |
| familial hypercholesterolemia | HP:0003124 | 1 | 1 |
| Down syndrome | — | 1 | 1 |
| asthma | — | 1 | 1 |
| hepatocellular carcinoma | — | 1 | 1 |
| congenital cataract | — | 1 | 1 |
| inflammatory bowel disease | — | 1 | 1 |
| glycogen storage disease | HP:0003542 | 1 | 1 |
| infertility | — | 1 | 1 |
| gastric cancer | — | 1 | 1 |
| breast cancer | — | 1 | 1 |
| Klinefelter syndrome | — | 1 | 1 |
| recurrent pregnancy loss | — | 1 | 1 |
Linked variants
Variants normalized to ATP8B1Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 65 | 1 |
| Saudi Arabia · Asir | — | — | 1 |
| Saudi Arabia · Riyadh | — | 79 | 1 |
| Not specified | — | 93 | 1 |
Supporting publications
8 records- 2025How useful are the biochemical tests in guiding the diagnostic workup of infantile cholestasis?Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationPubMed ↗
- 2023Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center.International journal of hepatologyPubMed ↗
- 2021Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.Clinica chimica acta; international journal of clinical chemistryPubMed ↗
- 2021Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.GastroenterologyPubMed ↗
- 2021ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.The Journal of pediatricsPubMed ↗
- 2017Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationPubMed ↗
- 2016Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.BMC genomicsPubMed ↗
- 2013Novel genes associated with colorectal cancer are revealed by high resolution cytogenetic analysis in a patient specific manner.PloS onePubMed ↗