CTSB, cathepsin B, 1508

N. diseases: 304; N. variants: 17
Disease: Keratolytic winter erythema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406756
Disease: Keratolytic winter erythema
Keratolytic winter erythema 		0.520 ChromosomalRearrangement disease ORPHANET In conclusion, KWE in South African and Norwegian families is caused by tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB, resulting in upregulation of this gene in affected individuals. 28457472 2017
CUI: C0406756
Disease: Keratolytic winter erythema
Keratolytic winter erythema 		0.520 GeneticVariation disease BEFREE In conclusion, KWE in South African and Norwegian families is caused by tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB, resulting in upregulation of this gene in affected individuals. 28457472 2017
CUI: C0406756
Disease: Keratolytic winter erythema
Keratolytic winter erythema 		0.520 Biomarker disease BEFREE CTSB and FDFT1 are excluded as candidates for KWE. 21945151 2012
CUI: C0406756
Disease: Keratolytic winter erythema
Keratolytic winter erythema 		0.520 Biomarker disease CTD_human