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: 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: 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: 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: 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: 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: C4225172
Disease:
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869320626
rs869320626
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C4225172
Disease:
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION 		0.700 GeneticVariation UNIPROT
dbSNP: rs879253819
rs879253819
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C4225172
Disease:
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION 		0.700 GeneticVariation UNIPROT 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 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 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: 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 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 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 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 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: 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: 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: rs1553252938
rs1553252938
Entrez Id: 23065;101927895
Gene Symbol: EMC1;EMC1-AS1
EMC1;EMC1-AS1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 23105016 2013
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: 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: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 23105016 2013
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: 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: 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