RHOT1, ras homolog family member T1, 55288

N. diseases: 20; N. variants: 3
Disease: Motor Neuron Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772918193
rs772918193
Entrez Id: 55288
Gene Symbol: RHOT1
RHOT1
CUI: C0085084
Disease:
Motor Neuron Disease 		0.010 GeneticVariation BEFREE A proline-to-serine substitution at position 56 in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB; VAPBP56S) causes some dominantly inherited familial forms of motor neuron disease, including amyotrophic lateral sclerosis (ALS) type-8. 22258555 2012