TMPRSS13, transmembrane serine protease 13, 84000

N. diseases: 116; N. variants: 0
Disease: Amyotrophic Lateral Sclerosis, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.020 GeneticVariation disease BEFREE T46I is the second mutation on the hVAPB MSP domain which was recently identified from non-Brazilian kindred to cause a familial amyotrophic lateral sclerosis (ALS). 22069488 2011
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.020 GeneticVariation disease BEFREE The Pro56Ser mutation in the human VAPB MSP domain causes a familial amyotrophic lateral sclerosis. 20377183 2010