DisGeNET - a database of gene-disease associations

Contractures of the joints of the lower limbs, C1859523

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

Variant

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1034395178

rs1034395178

LZTR1

33

0.716

0.480

22

20996071

stop gained

C/A;T

snv

4.0E-06; 8.0E-06

0.700

1.000

2018

2018

dbSNP:

rs1555421871

rs1555421871

CAPN3

6

0.882

0.120

15

42399617

frameshift variant

G/-

delins

0.700

dbSNP:

rs80338800

rs80338800

CAPN3 ; LOC105370794

21

0.827

0.120

15

42387803

frameshift variant

A/-

delins

0.700