DisGeNET - a database of gene-disease associations

rs1057518834, DMD

N. diseases: 9

Source: ALL

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

EMG: myopathic abnormalities

CUI:	C4021726
Disease:	EMG: myopathic abnormalities

16

X

32849737

frameshift variant

C/-

delins

0.700

Exercise-induced muscle cramps

CUI:	C1855578
Disease:	Exercise-induced muscle cramps

1

X

32849737

frameshift variant

C/-

delins

0.700

Exercise-induced muscle fatigue

CUI:	C1855580
Disease:	Exercise-induced muscle fatigue

3

X

32849737

frameshift variant

C/-

delins

0.700

Exercise-induced muscle stiffness

CUI:	C1855579
Disease:	Exercise-induced muscle stiffness

1

X

32849737

frameshift variant

C/-

delins

0.700

Exercise-induced myalgia

CUI:	C1850830
Disease:	Exercise-induced myalgia

4

X

32849737

frameshift variant

C/-

delins

0.700

Exercise-induced rhabdomyolysis

CUI:	C4021526
Disease:	Exercise-induced rhabdomyolysis

1

X

32849737

frameshift variant

C/-

delins

0.700

Myopathy

CUI:	C0026848
Disease:	Myopathy

166

X

32849737

frameshift variant

C/-

delins

0.700

Short stature

CUI:	C0349588
Disease:	Short stature

292

X

32849737

frameshift variant

C/-

delins

0.700

Weight less than 3rd percentile

CUI:	C1844806
Disease:	Weight less than 3rd percentile

27

X

32849737

frameshift variant

C/-

delins

0.700