TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834120
Disease: NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) 		0.010 GeneticVariation disease BEFREE Eleven paternal diseases were discovered, which were Noonan-like syndrome (1), paternal cervical anomalies (1), Goldenhar syndrome (1), dominant autosomal arthrogryposis (1), osteogenesis imperfecta (3), tuberous sclerosis (1), dominant transposition of great vessels (1), Weyers acrofacial dysostosis (1), and autosomal dominant holoprosencephaly (1). 17139695 2006