EMC1-AS1, EMC1 antisense RNA 1, 101927895

N. diseases: 15; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		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: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype 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 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: C0241210
Disease: Speech Delay
Speech Delay 		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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.100 GeneticVariation phenotype 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: C0426961
Disease: Dystonic posture
Dystonic posture 		0.100 GeneticVariation phenotype 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: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		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: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		0.100 GeneticVariation phenotype 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: C0740279
Disease: Cerebellar atrophy
Cerebellar 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: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 GeneticVariation phenotype 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: C1968949
Disease: Cakut
Cakut 		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: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		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
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
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
CUI: C0241210
Disease: Speech Delay
Speech Delay 		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
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.100 GeneticVariation phenotype CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
CUI: C0426961
Disease: Dystonic posture
Dystonic posture 		0.100 GeneticVariation phenotype CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		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
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		0.100 GeneticVariation phenotype CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar 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
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 GeneticVariation phenotype CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016