DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Proximal lower limb amyotrophy ×

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:

rs757082154

rs757082154

TTN ; TTN-AS1

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

CUI:	C1836767
Disease:	Proximal lower limb amyotrophy

Proximal lower limb amyotrophy

0.700

dbSNP:

rs760768093

rs760768093

TTN ; TTN-AS1

0.882

0.160

2

178533255

frameshift variant

C/-

delins

2.4E-05

1.4E-05

CUI:	C1836767
Disease:	Proximal lower limb amyotrophy

Proximal lower limb amyotrophy

0.700

dbSNP:

rs778768583

rs778768583

CAPN3

0.851

0.120

15

42410958

missense variant

G/C

snv

8.0E-06

CUI:	C1836767
Disease:	Proximal lower limb amyotrophy

Proximal lower limb amyotrophy

0.700

dbSNP:

rs886042108

rs886042108

CAPN3

0.851

0.120

15

42409930

splice acceptor variant

G/C;T

snv

CUI:	C1836767
Disease:	Proximal lower limb amyotrophy

Proximal lower limb amyotrophy

0.700