Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894805
rs104894805
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894806
rs104894806
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		A 0.800 CausalMutation CLINVAR

dbSNP: rs267606782
rs267606782
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		G 0.710 CausalMutation CLINVAR Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. 21697856

2011
dbSNP: rs267606782
rs267606782
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		G 0.710 CausalMutation CLINVAR Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. 19997654

2009
dbSNP: rs267606782
rs267606782
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		G 0.710 CausalMutation CLINVAR Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 7894480

1994
dbSNP: rs1060502612
rs1060502612
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs132630262
rs132630262
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs148515772
rs148515772
EMD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557182214
rs1557182214
EMD
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		T 0.700 CausalMutation CLINVAR SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. 8595433

1995
dbSNP: rs1557182214
rs1557182214
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. 8595433

1995
dbSNP: rs1557182301
rs1557182301
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		AG 0.700 CausalMutation CLINVAR

dbSNP: rs1557182317
rs1557182317
EMD
CUI: C0026848
Disease: Myopathy
Myopathy 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1557182317
rs1557182317
EMD
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1557182317
rs1557182317
EMD
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1557182364
rs1557182364
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		GAT 0.700 CausalMutation CLINVAR

dbSNP: rs1557182560
rs1557182560
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs1557182560
rs1557182560
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 15967842

2005
dbSNP: rs1557182560
rs1557182560
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182611
rs1557182611
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 15967842

2005
dbSNP: rs1557182611
rs1557182611
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182654
rs1557182654
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 15967842

2005
dbSNP: rs1557182654
rs1557182654
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182661
rs1557182661
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		A 0.700 CausalMutation CLINVAR Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. 21697856

2011
dbSNP: rs1557182661
rs1557182661
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		A 0.700 CausalMutation CLINVAR High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 15967842

2005
dbSNP: rs1557182661
rs1557182661
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		A 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996