ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36215895
rs36215895
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C2751805
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 17761684 2007
dbSNP: rs36215895
rs36215895
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C2751805
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR