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CTSH and Marfan syndrome are reported together in 1 article.
Gene
CTSH
- HGNC
- HGNC:2535
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Marfan syndrome
19articles
19mentions
7co-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 60Mutations in LRPAP1 are associated with severe myopia in humans.
PMID 23830514 | PMCID PMC3738831 | DOI 10.1016/j.ajhg.2013.06.002 · American journal of human genetics · 2013 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CTSH | “We have identified Mendelian forms of myopia in four consanguineous families and implemented exome/autozygome analysis to identify homozygous truncating variants in LRPAP1 and CTSH as the likely causal mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | Marfan syndrome | “Interestingly, we observed marked deficiency of LRP1 and upregulation of TGF-β in cells from affected individuals, the latter being consistent with available data on the role of TGF-β in the remodeling of the sclera in myopia and the high frequency of myopia in individuals with Marfan syndrome who characteristically have upregulation of TGF-β signaling.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LRPAP1 | “Mutations in LRPAP1 are associated with severe myopia in humans.” | 0.98 | hgnc_dict_v1 |
| gene | LRP1 | “LRPAP1 encodes a chaperone of LRP1, which is known to influence TGF-β activity.” | 0.98 | hgnc_dict_v1 |