Disease: Nemaline myopathy 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6 		0.700 Biomarker disease GENOMICS_ENGLAND Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. 21109227 2010
CUI: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6 		0.700 GeneticVariation disease UNIPROT Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. 21109227 2010
CUI: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6 		0.700 Biomarker disease GENOMICS_ENGLAND A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. 12805120 2003
CUI: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6 		0.700 Biomarker disease CTD_human
CUI: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6 		0.700 GeneticVariation disease CLINVAR
CUI: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6 		0.700 CausalMutation disease CLINVAR