Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		0.010 GeneticVariation disease BEFREE A family with Charcot-Marie-Tooth disease type 1A with an exaggerated phenotype harbors a Q112H mutation in MNRR1, located in a domain that is necessary for transcriptional activation by MNRR1. 27913209 2017