NSUN2, NOP2/Sun RNA methyltransferase 2, 54888

N. diseases: 173; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation disease UNIPROT Mutations in NSUN2 cause autosomal-recessive intellectual disability. 22541559 2012
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation disease UNIPROT Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. 22541562 2012
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		0.700 Biomarker disease GENOMICS_ENGLAND Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 21063731 2011
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		0.700 Biomarker disease CTD_human
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		0.700 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 28397838 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE NOP2/Sun transfer RNA (tRNA) methyltransferase family member 2 encoded by NSUN2 gene is a highly conserved protein and has been shown to cause autosomal recessive ID type 5 (MRT5). 26055038 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN NOP2/Sun transfer RNA (tRNA) methyltransferase family member 2 encoded by NSUN2 gene is a highly conserved protein and has been shown to cause autosomal recessive ID type 5 (MRT5). 26055038 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. 26077850 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN The epitranscriptome in modulating spatiotemporal RNA translation in neuronal post-synaptic function. 26582006 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. 24102521 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN In addition, Nsun2 and Nsun7 dysfunction might cause intellectual disability and male sterility, respectively. 23816522 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE The humans homozygous for NSUN2 mutations showed an overlapping phenotype consisting of moderate to severe ID and facial dysmorphism (which includes a long face, characteristic eyebrows, a long nose, and a small chin), suggesting that mutations in this gene might even induce a syndromic form of ID. 22541559 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN The ID combined with a unique profile of comorbid features presented here makes this an important genetic discovery, and the involvement of NSUN2 highlights the role of RNA methyltransferase in human neurocognitive development. 22541562 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. 22577224 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. 22541562 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN The humans homozygous for NSUN2 mutations showed an overlapping phenotype consisting of moderate to severe ID and facial dysmorphism (which includes a long face, characteristic eyebrows, a long nose, and a small chin), suggesting that mutations in this gene might even induce a syndromic form of ID. 22541559 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CLINGEN The RNA-methyltransferase Misu (NSun2) poises epidermal stem cells to differentiate. 22144916 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group HPO
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		0.310 GermlineCausalMutation disease ORPHANET Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype. 22577224 2012
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		0.310 Biomarker disease BEFREE Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype. 22577224 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.300 Biomarker disease CTD_human We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. 31209396 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE Loss-of-function mutations in the cytosine-5 RNA methylase NSUN2 cause neurodevelopmental disorders in humans, yet the underlying cellular processes leading to the symptoms that include microcephaly remain unclear. 28041877 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE Mutations in the cytosine-5 RNA methyltransferase NSun2 cause microcephaly and other neurological abnormalities in mice and human. 25063673 2014