Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 GeneticVariation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687

2017

Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288

2016