EMC1-AS1, EMC1 antisense RNA 1, 101927895

N. diseases: 15; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0585984
Disease:
Laryngotracheomalacia 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0003466
Disease:
Anus, Imperforate 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C1968949
Disease:
Cakut 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0700078
Disease:
Decreased tendon reflex 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0424605
Disease:
Developmental delay (disorder) 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0241210
Disease:
Speech Delay 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0036439
Disease:
Scoliosis, unspecified 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0235946
Disease:
Cerebral atrophy 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C1853743
Disease:
Muscular hypotonia of the trunk 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0740279
Disease:
Cerebellar atrophy 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0426961
Disease:
Dystonic posture 		T 0.700 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
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0036572
Disease:
Seizures 		T 0.700 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
dbSNP: rs1553252938
rs1553252938
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs1553252938
rs1553252938
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0036572
Disease:
Seizures 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0700078
Disease:
Decreased tendon reflex 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0585984
Disease:
Laryngotracheomalacia 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0740279
Disease:
Cerebellar atrophy 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0426961
Disease:
Dystonic posture 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0424605
Disease:
Developmental delay (disorder) 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0241210
Disease:
Speech Delay 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0036439
Disease:
Scoliosis, unspecified 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C1853743
Disease:
Muscular hypotonia of the trunk 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0003466
Disease:
Anus, Imperforate 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
dbSNP: rs869320624
rs869320624
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0235946
Disease:
Cerebral atrophy 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016