DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Muscular Dystrophy, Emery-Dreifuss ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1060502215

rs1060502215

LMNA

0.925

0.120

1

156115040

missense variant

G/A;T

snv

CUI:	C0410189
Disease:	Muscular Dystrophy, Emery-Dreifuss

Muscular Dystrophy, Emery-Dreifuss

0.700

dbSNP:

rs199474724

rs199474724

LMNA

0.851

0.120

1

156134839

missense variant

G/A

snv

CUI:	C0410189
Disease:	Muscular Dystrophy, Emery-Dreifuss

Muscular Dystrophy, Emery-Dreifuss

0.700

dbSNP:

rs28928901

rs28928901

LMNA

0.882

0.120

1

156134829

missense variant

C/T

snv

CUI:	C0410189
Disease:	Muscular Dystrophy, Emery-Dreifuss

Muscular Dystrophy, Emery-Dreifuss

0.700