Disease: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750315
rs63750315
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
CUI: C1970211
Disease:
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		0.800 GeneticVariation UNIPROT The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 17564964 2007
dbSNP: rs63750315
rs63750315
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
CUI: C1970211
Disease:
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		G 0.800 CausalMutation CLINVAR
dbSNP: rs144750655
rs144750655
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
CUI: C1970211
Disease:
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		C 0.700 GeneticVariation CLINVAR PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. 23777631 2013
dbSNP: rs144750655
rs144750655
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
CUI: C1970211
Disease:
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		C 0.700 GeneticVariation CLINVAR The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 17564964 2007
dbSNP: rs1441260635
rs1441260635
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
CUI: C1970211
Disease:
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs759212541
rs759212541
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
CUI: C1970211
Disease:
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs770593694
rs770593694
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
CUI: C1970211
Disease:
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs772217003
rs772217003
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5
CUI: C1970211
Disease:
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 		A 0.700 CausalMutation CLINVAR