MEGF10, multiple EGF like domains 10, 84466

N. diseases: 41; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907072
rs387907072
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057518682
rs1057518682
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		G 0.700 CausalMutation CLINVAR
dbSNP: rs199750143
rs199750143
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs387907071
rs387907071
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907072
rs387907072
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3541476
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387907073
rs387907073
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3541476
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387907074
rs387907074
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3541476
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs794726677
rs794726677
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794726678
rs794726678
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		G 0.700 CausalMutation CLINVAR
dbSNP: rs794726679
rs794726679
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		A 0.700 CausalMutation CLINVAR
dbSNP: rs931073338
rs931073338
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs989552169
rs989552169
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387907072
rs387907072
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.800 GeneticVariation UNIPROT Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 22101682 2011
dbSNP: rs1561599823
rs1561599823
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		C 0.700 GeneticVariation CLINVAR Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 22101682 2011
dbSNP: rs387907073
rs387907073
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.700 GeneticVariation UNIPROT Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 22101682 2011
dbSNP: rs387907074
rs387907074
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.700 GeneticVariation UNIPROT Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 22101682 2011
dbSNP: rs387907072
rs387907072
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.800 GeneticVariation UNIPROT Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. 22371254 2012
dbSNP: rs1561599823
rs1561599823
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		C 0.700 GeneticVariation CLINVAR Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. 22371254 2012
dbSNP: rs387907073
rs387907073
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.700 GeneticVariation UNIPROT Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. 22371254 2012
dbSNP: rs387907074
rs387907074
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.700 GeneticVariation UNIPROT Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. 22371254 2012
dbSNP: rs387907072
rs387907072
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.800 GeneticVariation UNIPROT Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. 23954233 2013
dbSNP: rs1561599823
rs1561599823
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		C 0.700 GeneticVariation CLINVAR Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 23453856 2013
dbSNP: rs1561599823
rs1561599823
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		C 0.700 GeneticVariation CLINVAR Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. 23954233 2013
dbSNP: rs387907073
rs387907073
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.700 GeneticVariation UNIPROT Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. 23954233 2013
dbSNP: rs387907074
rs387907074
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
CUI: C3280679
Disease:
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 		0.700 GeneticVariation UNIPROT Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. 23954233 2013