NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Mucolipidosis Type IV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.010 GeneticVariation disease BEFREE The assays designed here recognize a 2502 base pair deletion in the Nebulin (NEB) gene that results in Nemaline Myopathy, a 308,769 base pair deletion in the Gap Junction Protein, beta 6 (GJB6) gene that causes Hearing Loss, and a 6433 base pair deletion in the Mucolipin 1 (MCOLN1) gene responsible for causing Mucolipidosis IV Disease. 22281206 2012