BMS1, BMS1 ribosome biogenesis factor, 9790

N. diseases: 192; N. variants: 3
Disease: Corpus callosum agenesis neuronopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795950
Disease: Corpus callosum agenesis neuronopathy
Corpus callosum agenesis neuronopathy 		0.020 GeneticVariation disease BEFREE The potassium-chloride co-transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC); however, the molecular mechanisms of HMSN/ACC pathogenesis and the exact role of KCC3 in the development of the nervous system remain poorly understood. 18566107 2008
CUI: C0795950
Disease: Corpus callosum agenesis neuronopathy
Corpus callosum agenesis neuronopathy 		0.020 GeneticVariation disease BEFREE KCC3 mutations in exon 22 constitute a recurrent mutation site for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), regardless of ethnic origin, and are the most common cause of HMSN/ACC in the non-French Canadian (FC) families analyzed so far. 17893295 2007