LMLN, leishmanolysin like peptidase, 89782

N. diseases: 138; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9813476
rs9813476
Entrez Id: 89782
Gene Symbol: LMLN
LMLN
CUI: C1283048
Disease:
Iron binding capacity total measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs9813476
rs9813476
Entrez Id: 89782
Gene Symbol: LMLN
LMLN
CUI: C0700379
Disease:
Total iron binding capacity function 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs1239669755
rs1239669755
Entrez Id: 84223;89782
Gene Symbol: IQCG;LMLN
IQCG;LMLN
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.030 GeneticVariation BEFREE Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis. 20377183 2010
dbSNP: rs1239669755
rs1239669755
Entrez Id: 84223;89782
Gene Symbol: IQCG;LMLN
IQCG;LMLN
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.030 GeneticVariation BEFREE Structural requirements for VAP-B oligomerization and their implication in amyotrophic lateral sclerosis-associated VAP-B(P56S) neurotoxicity. 20207736 2010
dbSNP: rs1239669755
rs1239669755
Entrez Id: 84223;89782
Gene Symbol: IQCG;LMLN
IQCG;LMLN
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.030 GeneticVariation BEFREE A point mutation (P56S) in the MSP domain of human VAPB is associated with Amyotrophic lateral sclerosis (ALS), but the mechanisms underlying the pathogenesis are poorly understood. 18555774 2008
dbSNP: rs1239669755
rs1239669755
Entrez Id: 84223;89782
Gene Symbol: IQCG;LMLN
IQCG;LMLN
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE P56S mutation on VAPB MSP domain causes a familial ALS, characteristic of severe aggregation both in vivo and in vitro. 23333387 2013
dbSNP: rs1239669755
rs1239669755
Entrez Id: 84223;89782
Gene Symbol: IQCG;LMLN
IQCG;LMLN
CUI: C4551993
Disease:
Amyotrophic Lateral Sclerosis, Familial 		0.010 GeneticVariation BEFREE The Pro56Ser mutation in the human VAPB MSP domain causes a familial amyotrophic lateral sclerosis. 20377183 2010
dbSNP: rs1239669755
rs1239669755
Entrez Id: 84223;89782
Gene Symbol: IQCG;LMLN
IQCG;LMLN
CUI: C0085084
Disease:
Motor Neuron Disease 		0.010 GeneticVariation BEFREE These results shed light on the mechanism by which VAP-B(P56S) aggregates are formed and induce familial motor neuron diseases. 20207736 2010