EMC1-AS1, EMC1 antisense RNA 1, 101927895

N. diseases: 15; N. variants: 4
Disease: Cerebral atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 GeneticVariation disease 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
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 GeneticVariation disease CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016