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ADAMTS13 and sickle cell disease are reported together in 1 article.

HGNC
HGNC:1366
8articles
8mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
HPO
HP:0001878
OMIM
603903
828articles
828mentions
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 60

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.

PMID 41929524 | PMCID PMC13042357 | DOI 10.1155/humu/2418005 · Human mutation · 2026 · 16 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneADAMTS13“Frequent thrombophilia-related variants occurred in F5, SERPINC1, MTHFR, and FII, and inherited thrombocytopenias were linked to MPL, ANKRD26, THPO, DIAPH1, and ADAMTS13.”0.98hgnc_dict_v1
phenotypesickle cell disease“In sickle cell disease, the HbS mutation (c.20A>T) is the most common, primarily linked to the Arab-Indian haplotype, whereas polymorphisms in BCL11A, HBS1L-MYB, and ANTXR1 influenced fetal hemoglobin levels.”0.98phenotype_alias_lexicon_v2
geneHBB“RESULTS: The β-globin (HBB) gene showed the greatest mutational diversity, with over 60 β-thalassemia variants identified.”0.98hgnc_dict_v1
geneHBA1“The α-globin genes (HBA1, HBA2, and the unique HBA12) were frequently involved in α-thalassemia, with the -α3.7 deletion predominating.”0.98hgnc_dict_v1