Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54888
Gene name	NOP2/Sun RNA methyltransferase 2
Gene symbol	NSUN2
Synonyms (NCBI Gene)	MISUMRT5SAKITRM4
Chromosome	5
Chromosome location	5p15.31
Summary	This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907190	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs387907191	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs587776908	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1085307575	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1085307745	ATCT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1560982564	C>G	Pathogenic	Intron variant, splice acceptor variant
rs1579360593	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1579368865	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579370234	->T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579377990	TT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

Show/Hide all (63)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022997	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT052294	hsa-let-7b-5p	CLASH	23622248
MIRT051217	hsa-miR-16-5p	CLASH	23622248
MIRT045952	hsa-miR-125b-5p	CLASH	23622248
MIRT045478	hsa-miR-149-5p	CLASH	23622248
MIRT041441	hsa-miR-193b-3p	CLASH	23622248
MIRT052738	hsa-miR-1260b	CLASH	23622248
MIRT439714	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT439714	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT1195401	hsa-miR-2053	CLIP-seq
MIRT1195402	hsa-miR-217	CLIP-seq
MIRT1195403	hsa-miR-329	CLIP-seq
MIRT1195404	hsa-miR-362-3p	CLIP-seq
MIRT1195405	hsa-miR-425	CLIP-seq
MIRT1195406	hsa-miR-4286	CLIP-seq
MIRT1195407	hsa-miR-569	CLIP-seq
MIRT1195408	hsa-miR-642b	CLIP-seq
MIRT1195409	hsa-miR-124	CLIP-seq
MIRT1195410	hsa-miR-1910	CLIP-seq
MIRT1195411	hsa-miR-3192	CLIP-seq
MIRT1195412	hsa-miR-326	CLIP-seq
MIRT1195413	hsa-miR-330-5p	CLIP-seq
MIRT1195414	hsa-miR-3664-5p	CLIP-seq
MIRT1195415	hsa-miR-4274	CLIP-seq
MIRT1195416	hsa-miR-4314	CLIP-seq
MIRT1195417	hsa-miR-4646-5p	CLIP-seq
MIRT1195418	hsa-miR-4714-5p	CLIP-seq
MIRT1195419	hsa-miR-506	CLIP-seq
MIRT1195420	hsa-miR-548an	CLIP-seq
MIRT1195421	hsa-miR-550b	CLIP-seq
MIRT2056682	hsa-miR-944	CLIP-seq
MIRT1195411	hsa-miR-3192	CLIP-seq
MIRT1195412	hsa-miR-326	CLIP-seq
MIRT1195413	hsa-miR-330-5p	CLIP-seq
MIRT1195414	hsa-miR-3664-5p	CLIP-seq
MIRT1195416	hsa-miR-4314	CLIP-seq
MIRT1195417	hsa-miR-4646-5p	CLIP-seq
MIRT1195418	hsa-miR-4714-5p	CLIP-seq
MIRT1195421	hsa-miR-550b	CLIP-seq
MIRT2285137	hsa-miR-1301	CLIP-seq
MIRT1195410	hsa-miR-1910	CLIP-seq
MIRT1195403	hsa-miR-329	CLIP-seq
MIRT1195404	hsa-miR-362-3p	CLIP-seq
MIRT2285138	hsa-miR-380	CLIP-seq
MIRT2285139	hsa-miR-3944-5p	CLIP-seq
MIRT1195405	hsa-miR-425	CLIP-seq
MIRT1195415	hsa-miR-4274	CLIP-seq
MIRT2285140	hsa-miR-4660	CLIP-seq
MIRT2285141	hsa-miR-5047	CLIP-seq
MIRT2285142	hsa-miR-545	CLIP-seq
MIRT2285143	hsa-miR-548p	CLIP-seq
MIRT1195408	hsa-miR-642b	CLIP-seq
MIRT2285137	hsa-miR-1301	CLIP-seq
MIRT1195410	hsa-miR-1910	CLIP-seq
MIRT1195403	hsa-miR-329	CLIP-seq
MIRT1195404	hsa-miR-362-3p	CLIP-seq
MIRT2285139	hsa-miR-3944-5p	CLIP-seq
MIRT1195415	hsa-miR-4274	CLIP-seq
MIRT2285140	hsa-miR-4660	CLIP-seq
MIRT2285141	hsa-miR-5047	CLIP-seq
MIRT1195408	hsa-miR-642b	CLIP-seq
MIRT1195410	hsa-miR-1910	CLIP-seq
MIRT1195415	hsa-miR-4274	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA
GO:0000049	Function	TRNA binding	IEA
GO:0001510	Process	RNA methylation	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	17071714
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	17071714
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	31276587, 31287866
GO:0005739	Component	Mitochondrion	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006397	Process	MRNA processing	IDA	22395603, 28418038, 31358969
GO:0006397	Process	MRNA processing	IEA
GO:0006400	Process	TRNA modification	TAS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008173	Function	RNA methyltransferase activity	IEA
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IEA
GO:0010793	Process	Regulation of mRNA export from nucleus	IDA	28418038
GO:0016428	Function	TRNA (cytidine-5-)-methyltransferase activity	EXP	17071714
GO:0016428	Function	TRNA (cytidine-5-)-methyltransferase activity	IBA
GO:0016428	Function	TRNA (cytidine-5-)-methyltransferase activity	IDA	17071714, 31287866, 34556860
GO:0016428	Function	TRNA (cytidine-5-)-methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030488	Process	TRNA methylation	IBA
GO:0030488	Process	TRNA methylation	IDA	17071714, 31287866
GO:0030488	Process	TRNA methylation	IEA
GO:0032259	Process	Methylation	IEA
GO:0033313	Process	Meiotic cell cycle checkpoint signaling	IEA
GO:0033391	Component	Chromatoid body	IEA
GO:0036416	Process	TRNA stabilization	IEA
GO:0036416	Process	TRNA stabilization	ISS
GO:0048820	Process	Hair follicle maturation	IEA
GO:0048820	Process	Hair follicle maturation	ISS
GO:0051301	Process	Cell division	IEA
GO:0062152	Function	MRNA (cytidine-5-)-methyltransferase activity	IDA	22395603, 28418038, 31358969
GO:0062152	Function	MRNA (cytidine-5-)-methyltransferase activity	IEA
GO:0070062	Component	Extracellular exosome	IDA	28341602
GO:2000736	Process	Regulation of stem cell differentiation	IEA
GO:2000736	Process	Regulation of stem cell differentiation	ISS

MIM	HGNC	e!Ensembl
610916	25994	ENSG00000037474

Q08J23

Protein name

RNA cytosine C(5)-methyltransferase NSUN2 (EC 2.1.1.-) (Myc-induced SUN domain-containing protein) (Misu) (NOL1/NOP2/Sun domain family member 2) (Substrate of AIM1/Aurora kinase B) (mRNA cytosine C(5)-methyltransferase) (EC 2.1.1.-) (tRNA cytosine C(5)-me

Protein function

RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:17071714, PubMed:22995836, PubMed:31199786, PubMed:31358969). Involved i

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01189	Methyltr_RsmB-F	169 → 369	16S rRNA methyltransferase RsmB/F	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult and fetal brain and in lymphoblastoid cells. {ECO:0000269|PubMed:22541559}.

Sequence

MGRRSRGRRLQQQQRPEDAEDGAEGGGKRGEAGWEGGYPEIVKENKLFEHYYQELKIVPE
GEWGQFMDALREPLPATLRITGYKSHAKEILHCLKNKYFKELEDLEVDGQKVEVPQPLSW
YPEELAWHTNLSRKILRKSPHLEKFHQFLVSETESGNISRQEAVSMIPPLLLNVRPHHKI
LDMCAAPGSKTTQLIEMLHADMNVPFPEGFVIANDVDNKRCYLLVHQAKRLSSPCIMVVN
HDASSIPRLQIDVDGRKEILFYDRILCDVPCSGDGTMRKNIDVWKKWTTLNSLQLHGLQL
RIATRGAEQLAEGGRMVYSTCSLNPIEDEAVIASLLEKSEGALELADVSNELPGLKWMPG
ITQWKVMTKDGQWFTDWDAVPHSRHTQIRPTMFPPKDPEKLQAMHLERCLRILPHHQNTG
GFFVAVLVKKSSMPWNKRQPKLQGKSAETRESTQLSPADLTEGKPTDPSKLESPSFTGTG
DTEIAHATEDLENNGSKKDGVCGPPPSKKMKLFGFKEDPFVFIPEDDPLFPPIEKFYALD
PSFPRMNLLTRTTEGKKRQLYMVSKELRNVLLNNSEKMKVINTGIKVWCRNNSGEEFDCA
FRLAQEGIYTLYPFINSRIITVSMEDVKILLTQENPFFRKLSSETYSQAKDLAKGSIVLK
YEPDSANPDALQCPIVLCGWRGKASIRTFVPKNERLHYLRMMGLEVLGEKKKEGVILTNE
SAASTGQPDNDVTEGQRAGEPNSPDAEEANSPDVTAGCDPAGVHPPR

Sequence length

767

Interactions

View interactions

	Reactome
			tRNA modification in the nucleus and cytosol

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive non-syndromic intellectual disability	Likely pathogenic; Pathogenic	rs1377452635, rs868442196	RCV003331119 RCV003226479	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1579368865	RCV004798882	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 5	Likely pathogenic; Pathogenic	rs1377452635, rs1403893283, rs2477413153, rs1737230745, rs2477508063, rs2477448485, rs2126481981, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs1579370234, rs1579377990, rs1579368865, rs762288077, rs1041431561 View all (2 more)	RCV001332181 RCV001543353 RCV002283598 RCV002305693 RCV003226540 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Phenylketonuria	Pathogenic	rs1579368865	RCV005860176	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUBOWITZ SYNDROME	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability, Recessive	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NSUN2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (115)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33337366	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	34856760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	38183111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31209396	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	31209396		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	BEFREE	24102521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19740597, 27447970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40555775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37586363, 38065062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28829218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22136356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	22541559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	36862118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33002343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dubowitz syndrome	Dubowitz Syndrome	BEFREE	22577224		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dubowitz syndrome	Dubowitz Syndrome	ORPHANET_DG	22577224		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dubowitz syndrome	Dubowitz Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dubowitz syndrome	Dubowitz syndrome	Pubtator	33098347	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	38042059	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	33002343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	31487418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	24102521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33002343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	19177570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	28919411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CLINGEN_DG	22144916, 22541559, 22541562, 22577224, 23816522, 24102521, 26055038, 26077850, 26582006, 28397838		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	22541559, 22541562, 26055038		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33002343	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia	Leukemia	Pubtator	38065062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33858292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19740597, 22136356, 27447970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	31487418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28829218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22136356, 27447970, 30816500		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5	Mental retardation	GENOMICS_ENGLAND_DG	21063731		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5	Mental retardation	UNIPROT_DG	22541559, 22541562		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5	Mental retardation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5	Mental retardation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	25063673, 28041877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33002343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30816500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28041877, 31276587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36792587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28829218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	BEFREE	24102521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36169095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	37228185	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29775108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29763634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31887619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30863149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34504059	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37582794	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	37983928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37983928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36632452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	35757999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NSUN2 (NOP2/Sun RNA methyltransferase 2)