INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Congenital Fiber Type Disproportion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.010 GeneticVariation disease BEFREE A third brother who inherited both normal alleles has an normal muscle phenotype and insulin sensitivity, suggesting a direct linkage of these IR mutations with the CFTDM phenotype. 10844410 1999