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CD44 and familial hypercholesterolemia are reported together in 1 article.
Gene
CD44
- HGNC
- HGNC:1681
74articles
74mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
breast cancer 14colorectal cancer 7lung cancer 4diabetes mellitus 3ovarian cancer 3epilepsy 2hepatocellular carcinoma 2inflammatory bowel disease 2
Reported variants (articles · ClinVar status)
Phenotype
Familial hypercholesterolemia
- HPO
- HP:0003124
- OMIM
- 143890
165articles
165mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
PMID 27454254 | PMCID PMC4959372 | DOI 10.1186/s12864-016-2858-0 · BMC genomics · 2016 · 46 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CD44 | “Al-Qahtani P79 Prognostic significance of CD44 expression profile in colorectal carcinoma Maryam Al-Zahrani, Sahira Lary, Sahar Hakamy, Ashraf Dallol, Mahmoud Al-Ahwal, Jaudah Al-Maghrabi, Emmanuel Dermitzakis, Adel Abuzenadah, Abdelbaset Buhmeida, Mohammed Al-Qahtani P80 Association of the endothelial nitric oxide synthase (eNOS) gene G894T polymorphism with hypertension risk and complications Abeer A Al-refai, Mona Saleh, Rehab I Yassien, Mahmmoud Kamel, Rabab M Habeb P81 SNPs array to screen genetic variation among diabetic patients Najlaa Filimban, Ashraf Dallol, Nadia Ghannam, Mohammed Al-Qahtani, Adel Mohammed Abuzenadah P82 Detection and genotyping of Helicobacter pylori among gastric cancer patients from Saudi Arabian population Fehmida Bibi, Sana Akhtar, Esam I.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Gari, Mohmmed H Alkaff, Adel M Abuzenadah, Mamdooh A Gari P32 An integrated database of GWAS SNVs and their evolutionary properties Heba Abusamra, Sajjad Karim, Hend F Nour eldin, Elham M Alhathli, Nada Salem, Sudhir Kumar, Mohammed H Al-Qahtani P33 Familial hypercholesterolemia in Saudi Arabia: prime time for a national registry and genetic analysis Fatima A.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KIF2A | “Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G.” | 0.98 | hgnc_dict_v1 |
| gene | RPL27A | “Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis Heba Alkhatabi O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp O7 Targeted sequencing panels and their utilization in personalized medicine Adel M.” | 0.98 | hgnc_dict_v1 |