TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Shagreen patch ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		0.110 GeneticVariation disease BEFREE Twenty-seven (93%) of the 29 patients had hypomelanotic macules and 15 (52%) had shagreen patch; 11 of the 12 (92%) who underwent genetic analysis had gene mutations in the TSC1 or TSC2 gene. 28771801 2017
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		0.110 Biomarker disease HPO