DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs886039785 ×

Results per page

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:

rs886039785

rs886039785

DMD

0.925

0.120

X

31496876

stop gained

C/T

snv

CUI:	C0850703
Disease:	Frequent falls

Frequent falls

0.700

dbSNP:

rs886039785

rs886039785

DMD

0.925

0.120

X

31496876

stop gained

C/T

snv

CUI:	C1836296
Disease:	Muscle Weakness Lower Limb

Muscle Weakness Lower Limb

0.700

dbSNP:

rs886039785

rs886039785

DMD

0.925

0.120

X

31496876

stop gained

C/T

snv

CUI:	C0026850
Disease:	Muscular Dystrophy

Muscular Dystrophy

0.700

dbSNP:

rs886039785

rs886039785

DMD

0.925

0.120

X

31496876

stop gained

C/T

snv

CUI:	C0241005
Disease:	Creatine phosphokinase serum increased

Creatine phosphokinase serum increased

0.700

dbSNP:

rs886039785

rs886039785

DMD

0.925

0.120

X

31496876

stop gained

C/T

snv

CUI:	C1843057
Disease:	Calf muscle hypertrophy

Calf muscle hypertrophy

0.700

dbSNP:

rs886039785

rs886039785

DMD

0.925

0.120

X

31496876

stop gained

C/T

snv

CUI:	C0234182
Disease:	Gowers sign

Gowers sign

0.700

dbSNP:

rs886039785

rs886039785

DMD

0.925

0.120

X

31496876

stop gained

C/T

snv

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700