DisGeNET - a database of gene-disease associations

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, C1854678

Variant: rs121912670 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912670

CHRNG

0.800

GeneticVariation

UNIPROT

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

16826531

2006

dbSNP:

rs121912670

CHRNG

0.800

GeneticVariation

UNIPROT

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

16826520

2006

dbSNP:

rs121912670

CHRNG

0.800

CausalMutation

CLINVAR