METTL23, methyltransferase like 23, 124512

N. diseases: 49; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2005827
rs2005827
Entrez Id: 23210;124512
Gene Symbol: JMJD6;METTL23
JMJD6;METTL23
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1382444181
rs1382444181
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 24626631 2014
dbSNP: rs1382444181
rs1382444181
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 24626631 2014
dbSNP: rs1382444181
rs1382444181
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR METTL23, a transcriptional partner of GABPA, is essential for human cognition. 24501276 2014
dbSNP: rs1382444181
rs1382444181
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR METTL23, a transcriptional partner of GABPA, is essential for human cognition. 24501276 2014
dbSNP: rs1462161137
rs1462161137
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0026827
Disease:
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 24626631 2014
dbSNP: rs1462161137
rs1462161137
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 24626631 2014
dbSNP: rs1462161137
rs1462161137
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR METTL23, a transcriptional partner of GABPA, is essential for human cognition. 24501276 2014
dbSNP: rs1462161137
rs1462161137
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR METTL23, a transcriptional partner of GABPA, is essential for human cognition. 24501276 2014
dbSNP: rs1462161137
rs1462161137
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0026827
Disease:
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR METTL23, a transcriptional partner of GABPA, is essential for human cognition. 24501276 2014
dbSNP: rs1462161137
rs1462161137
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 24626631 2014
dbSNP: rs587777644
rs587777644
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 24626631 2014
dbSNP: rs587777644
rs587777644
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 24626631 2014
dbSNP: rs587777644
rs587777644
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR METTL23, a transcriptional partner of GABPA, is essential for human cognition. 24501276 2014
dbSNP: rs587777644
rs587777644
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR METTL23, a transcriptional partner of GABPA, is essential for human cognition. 24501276 2014
dbSNP: rs587777644
rs587777644
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C4014745
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777645
rs587777645
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C4014745
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777646
rs587777646
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C4014745
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 		T 0.700 CausalMutation CLINVAR