DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neuromuscular Diseases ×

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:

rs267607490

rs267607490

DES

0.925

0.160

2

219425734

missense variant

C/T

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs387906902

rs387906902

TRPV4

0.925

0.080

12

109793560

missense variant

G/C;T

snv

4.0E-06

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs387906904

rs387906904

TRPV4

0.851

0.080

12

109803009

missense variant

G/A

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs387906905

rs387906905

TRPV4

0.882

0.120

12

109798819

missense variant

C/T

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs387906906

rs387906906

TRPV4

0.925

0.120

12

109786827

missense variant

G/A

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs387906907

rs387906907

TRPV4

0.925

0.120

12

109800645

missense variant

T/C

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs397514474

rs397514474

TRPV4

0.925

0.120

12

109814565

missense variant

C/A

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs397514494

rs397514494

TRPV4

0.925

0.080

12

109808298

missense variant

C/T

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs397517921

rs397517921

SGCD

5

156594936

frameshift variant

A/-

delins

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs515726157

rs515726157

TRPV4

1.000

0.040

12

109792704

missense variant

T/C

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs515726166

rs515726166

TRPV4

1.000

0.040

12

109784362

frameshift variant

TCATTCTTGCCCGGGTC/-

delins

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs727503422

rs727503422

SGCD

0.925

0.200

5

156508703

splice donor variant

G/A

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700

dbSNP:

rs77975504

rs77975504

TRPV4

0.827

0.280

12

109792695

missense variant

C/T

snv

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.700