TCAP, titin-cap, 8557

N. diseases: 49; N. variants: 15
Disease: Hermanski-Pudlak Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.010 Biomarker disease BEFREE We demonstrate this in patient-derived cell lines for two diseases: limb-girdle muscular dystrophy type 2G (LGMD2G)<sup>1</sup> and Hermansky-Pudlak syndrome type 1 (HPS1)<sup>2</sup>. 30944467 2019