Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. 27245440 2016
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. 25957469 2015
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR Neuromotor synapses in Escobar syndrome. 24038971 2013
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 22167768 2012
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006