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	7468
Gene name	Nuclear receptor binding SET domain protein 2
Gene symbol	NSD2
Synonyms (NCBI Gene)	KMT3FKMT3GMMSETRAUSTREIIBPTRX5WHSWHSC1
Chromosome	4
Chromosome location	4p16.3
Summary	This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a mal

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs748707745	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1553873247	GAGA>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant, intron variant, upstream transcript variant
rs1560602800	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1560635105	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1560696317	->G	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1577434780	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1577484648	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1577532139	GT>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1577584497	->A	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant

Show/Hide all (51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT237889	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT563361	hsa-miR-3622a-5p	PAR-CLIP	20371350
MIRT237891	hsa-miR-6826-5p	PAR-CLIP	20371350
MIRT563360	hsa-miR-4775	PAR-CLIP	20371350
MIRT237888	hsa-miR-4423-3p	PAR-CLIP	20371350
MIRT563358	hsa-miR-4256	PAR-CLIP	20371350
MIRT563359	hsa-miR-4762-3p	PAR-CLIP	20371350
MIRT463973	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT237884	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT237875	hsa-miR-181a-5p	PAR-CLIP	21572407
MIRT237876	hsa-miR-181b-5p	PAR-CLIP	21572407
MIRT237877	hsa-miR-181c-5p	PAR-CLIP	21572407
MIRT237878	hsa-miR-181d-5p	PAR-CLIP	21572407
MIRT237879	hsa-miR-4262	PAR-CLIP	21572407
MIRT463972	hsa-miR-4255	PAR-CLIP	21572407
MIRT237882	hsa-miR-3973	PAR-CLIP	21572407
MIRT164670	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT164672	hsa-miR-520h	PAR-CLIP	21572407
MIRT309831	hsa-miR-503-3p	PAR-CLIP	21572407
MIRT237885	hsa-miR-5681b	PAR-CLIP	21572407
MIRT237886	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT463971	hsa-miR-4732-5p	PAR-CLIP	21572407
MIRT463970	hsa-miR-95-3p	PAR-CLIP	21572407
MIRT237883	hsa-miR-3591-5p	PAR-CLIP	21572407
MIRT237880	hsa-miR-3674	PAR-CLIP	21572407
MIRT463973	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT237884	hsa-miR-548at-5p	PAR-CLIP	23592263
MIRT237875	hsa-miR-181a-5p	PAR-CLIP	23592263
MIRT237876	hsa-miR-181b-5p	PAR-CLIP	23592263
MIRT237877	hsa-miR-181c-5p	PAR-CLIP	23592263
MIRT237878	hsa-miR-181d-5p	PAR-CLIP	23592263
MIRT237879	hsa-miR-4262	PAR-CLIP	23592263
MIRT463972	hsa-miR-4255	PAR-CLIP	23592263
MIRT237882	hsa-miR-3973	PAR-CLIP	23592263
MIRT164670	hsa-miR-520g-3p	PAR-CLIP	23592263
MIRT164672	hsa-miR-520h	PAR-CLIP	23592263
MIRT309831	hsa-miR-503-3p	PAR-CLIP	23592263
MIRT237885	hsa-miR-5681b	PAR-CLIP	23592263
MIRT237886	hsa-miR-6832-5p	PAR-CLIP	23592263
MIRT463971	hsa-miR-4732-5p	PAR-CLIP	23592263
MIRT463970	hsa-miR-95-3p	PAR-CLIP	23592263
MIRT237883	hsa-miR-3591-5p	PAR-CLIP	23592263
MIRT237880	hsa-miR-3674	PAR-CLIP	23592263
MIRT164664	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT164659	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT164664	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT164658	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT164665	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT164660	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT164669	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT164659	hsa-miR-20a-5p	HITS-CLIP	22473208

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IBA
GO:0003149	Process	Membranous septum morphogenesis	IEA
GO:0003289	Process	Atrial septum primum morphogenesis	IEA
GO:0003290	Process	Atrial septum secundum morphogenesis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	19481544, 21293379, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006302	Process	Double-strand break repair	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0042799	Function	Histone H4K20 methyltransferase activity	TAS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IBA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IEA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IMP	24595546, 33941880
GO:0048298	Process	Positive regulation of isotype switching to IgA isotypes	IEA
GO:0060348	Process	Bone development	IEA
GO:0070201	Process	Regulation of establishment of protein localization	IEA
GO:0140938	Function	Histone H3 methyltransferase activity	TAS
GO:0140954	Function	Histone H3K36 dimethyltransferase activity	IEA
GO:0140955	Function	Histone H3K36 trimethyltransferase activity	IEA
GO:2001032	Process	Regulation of double-strand break repair via nonhomologous end joining	IEA

MIM	HGNC	e!Ensembl
602952	12766	ENSG00000109685

O96028

Protein name

Histone-lysine N-methyltransferase NSD2 (EC 2.1.1.357) (Multiple myeloma SET domain-containing protein) (MMSET) (Nuclear SET domain-containing protein 2) (Protein trithorax-5) (Wolf-Hirschhorn syndrome candidate 1 protein)

Protein function

Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2) (PubMed:19808676, PubMed:22099308, PubMed:27571355, PubMed:29728617, PubMed:33941880). Also monomethylates nucleosomal histone H3 at 'Lys-36'

PDB

5LSU , 5VC8 , 6UE6 , 6XCG , 7CRO , 7E8D , 7LMT , 7MDN , 7VLN , 9EXW , 9EXX , 9EXY , 9GBF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00855	PWWP	220 → 334	PWWP domain	Domain
PF00505	HMG_box	455 → 508	HMG (high mobility group) box	Domain
PF00855	PWWP	878 → 970	PWWP domain	Domain
PF17907	AWS	1022 → 1060	AWS domain	Domain
PF00856	SET	1074 → 1180	SET domain	Family
PF17982	C5HCH	1282 → 1330	NSD Cys-His rich domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:18172012, PubMed:9618163). Predominantly expressed in thymus and testis (PubMed:18172012, PubMed:9787135). {ECO:0000269|PubMed:18172012, ECO:0000269|PubMed:9618163, ECO:0000269|PubMed:9787135}.

Sequence

MEFSIKQSPLSVQSVVKCIKMKQAPEILGSANGKTPSCEVNRECSVFLSKAQLSSSLQEG
VMQKFNGHDALPFIPADKLKDLTSRVFNGEPGAHDAKLRFESQEMKGIGTPPNTTPIKNG
SPEIKLKITKTYMNGKPLFESSICGDSAADVSQSEENGQKPENKARRNRKRSIKYDSLLE
QGLVEAALVSKISSPSDKKIPAKKESCPNTGRDKDHLLKYNVGDLVWSKVSGYPWWPCMV
SADPLLHSYTKLKGQKKSARQYHVQFFGDAPERAWIFEKSLVAFEGEGQFEKLCQESAKQ
APTKAEKIKLLKPISGKLRAQWEMGIVQAEEAASMSVEERKAKFTFLYVGDQLHLNPQVA
KEAGIAAESLGEMAESSGVSEEAAENPKSVREECIPMKRRRRAKLCSSAETLESHPDIGK
STPQKTAEADPRRGVGSPPGRKKTTVSMPRSRKGDAASQFLVFCQKHRDEVVAEHPDASG
EEIEELLRSQWSLLSEKQRARYNTKFALVAPVQAEEDSGNVNGKKRNHTKRIQDPTEDAE
AEDTPRKRLRTDKHSLRKRDTITDKTARTSSYKAMEAASSLKSQAATKNLSDACKPLKKR
NRASTAASSALGFSKSSSPSASLTENEVSDSPGDEPSESPYESADETQTEVSVSSKKSER
GVTAKKEYVCQLCEKPGSLLLCEGPCCGAFHLACLGLSRRPEGRFTCSECASGIHSCFVC
KESKTDVKRCVVTQCGKFYHEACVKKYPLTVFESRGFRCPLHSCVSCHASNPSNPRPSKG
KMMRCVRCPVAYHSGDACLAAGCSVIASNSIICTAHFTARKGKRHHAHVNVSWCFVCSKG
GSLLCCESCPAAFHPDCLNIEMPDGSWFCNDCRAGKKLHFQDIIWVKLGNYRWWPAEVCH
PKNVPPNIQKMKHEIGEFPVFFFGSKDYYWTHQARVFPYMEGDRGSRYQGVRGIGRVFKN
ALQEAEARFREIKLQREARETQESERKPPPYKHIKVNKPYGKVQIYTADISEIPKCNCKP
TDENPCGFDSECLNRMLMFECHPQVCPAGEFCQNQCFTKRQYPETKIIKTDGKGWGLVAK
RDIRKGEFVNEYVGELIDEEECMARIKHAHENDITHFYMLTIDKDRIIDAGPKGNYSRFM
NHSCQPNCETLKWTVNGDTRVGLFAVCDIPAGTELTFNYNLDCLGNEKTVCRCGASNCSG
FLGDRPKTSTTLSSEEKGKKTKKKTRRRRAKGEGKRQSEDECFRCGDGGQLVLCDRKFCT
KAYHLSCLGLGKRPFGKWECPWHHCDVCGKPSTSFCHLCPNSFCKEHQDGTAFSCTPDGR
SYCCEHDLGAASVRSTKTEKPPPEPGKPKGKRRRRRGWRRVTEGK

Sequence length

1365

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways Transcriptional misregulation in cancer		PKMTs methylate histone lysines Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends G2/M DNA damage checkpoint

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
4p partial monosomy syndrome	Pathogenic; Likely pathogenic	rs1725000714, rs2108971782, rs2474331632, rs1553873247, rs1560602800, rs1560635105, rs1560696317	RCV001330272 RCV001754558 RCV002288414 RCV000660609 RCV001249663 RCV001249665 RCV001249664 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
atypical Wolf-Hirschhorn syndrome	Pathogenic	rs1717589360	RCV001254026	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs1553873247	RCV001779037	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs1553873247	RCV002274084	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NSD2-associated disorder	Pathogenic	rs1717589360	RCV001254026	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NSD2-related disorder	Likely pathogenic; Pathogenic	rs2109020378, rs2474219766, rs2474340489, rs1553873247, rs1577434780	RCV004728828 RCV004545864 RCV003410483 RCV004735729 RCV000791294	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rauch-Steindl syndrome	Pathogenic; Likely pathogenic	rs1726909627, rs2108959336, rs2108877068, rs752037034, rs2109020378, rs2108971327, rs2108805626, rs2108976771, rs2108950399, rs2108940433, rs2474340960, rs2474621918, rs2474621465, rs1717034691, rs2474762078 View all (9 more)	RCV001807861 RCV001807862 RCV001807863 RCV001807864 RCV001807865 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndromic intellectual disability	Pathogenic; Likely pathogenic	rs2108805708, rs1553872623	RCV001786514 RCV004549039	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wolf-Hirschhorn like syndrome	Likely pathogenic; Pathogenic	rs2108958731, rs1560602800, rs1560635105, rs1560696317	RCV001420667 RCV000736076 RCV000736077 RCV000736075	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

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.
Acute myeloid leukemia	-; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; -	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL RETROGNATHISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGLYCEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma WNT activated	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NSD2-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell acute lymphoblastic leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; -; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WHSC1-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLF-HIRSCHHORN SYNDROME	—	CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (179)

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
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24076604, 30171259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	31177108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24076604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia cutis congenita of scalp	Aplasia Cutis Congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	33420361	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Neoplasms	Bone neoplasm	Pubtator	32826945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24874954, 27164560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	24874954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36805183, 39395300, 39667501	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	18172012, 22028615, 37756162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30215205	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28426876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	31526565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22028615, 23955539, 27604143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31692936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30215205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28537669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30012322		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28260054, 31354300, 31526565		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	28260054, 31354300, 31526565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	24076604, 30171259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	24076604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	27229140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	27229140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	31692936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36180906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30666650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28338204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	25887188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ectopic pupil	Congenital anomaly of eye	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28654864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	31171569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31692936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37331566	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31171569, 33941880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30066931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30066931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30066931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	30951831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30345613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	29760529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29796186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	20935158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	28426876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28426876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder anomaly congenital	Congenital Gallbladder Anomaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19121287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	16082703, 29892088, 30345613		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	23963300, 29892088, 31171569, 33276791, 33941880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32341405, 34324492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28654864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29193639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33420361	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31040165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	20935158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18229657, 29760529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30244530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33001864, 33276791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31526565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31692936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	24076604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	23963300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	29176703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32341405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18172012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18172012	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	32826945, 34597466, 37150325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	32826945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28426876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22028615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	39395300	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24874954, 27164560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	24874954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29796186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31692936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22028615, 23955539, 27604143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28537669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22797064, 28319045, 30518758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28512191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21385930, 22751105, 23159737, 26411517, 28148777, 28338204, 29796186, 30171259, 30683853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28260054, 31354300, 31526565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	24874954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	24874954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	24874954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	29755111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	29760529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	30518758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30244530		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	30244530		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	18229657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	10945609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10648414, 10945609, 11418483, 11429702, 11529856, 12139740, 12433679, 12731663, 12846810, 12846813, 15029211, 15090448, 15198734, 15355895, 15543617 View all (28 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11337357, 11418483, 11529856, 12139740, 12433679, 14531906, 15198734, 15677557, 16115125, 16197452, 16728703, 17303695, 17914559, 18172012, 19059936 View all (27 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	12433679, 15677557, 18156491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	36657019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10945609, 11418483, 12749063, 14633785, 18381641, 20393505, 21385930, 22099308, 22972034, 24145436, 25188243, 25402979, 25748235, 27164560, 27604143 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26561393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28338204, 30683853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28338204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical syndrome	Pubtator	26561393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	31092221		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28537669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28537669, 31092221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	22797064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pitt-Rogers-Danks Syndrome	Pitt-Rogers-Danks Syndrome	CTD_human_DG	24874954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	24076604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	30171259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22797064, 28319045, 30518758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	38062230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	38062230	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22797064, 33976366, 38062230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31040165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31692936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31692936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rieger eye malformation sequence	Axenfeld anomaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	31040165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	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
Situs Inversus	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	23963300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32497898, 34546854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	29727714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25280969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28512191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24809779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	25748235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	22842548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30670815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms Tumor	Wilms tumor	Pubtator	35184066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	BEFREE	11374904, 15734578, 16082703, 17637805, 18229657, 19449429, 19729912, 20935158, 21815251, 23241889, 23637096, 23963300, 25942451, 26092122, 28260054 View all (10 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	CTD_human_DG	24874954		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolf-Hirschhorn syndrome	Wolf-Hirschhorn Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolfram Syndrome	Wolfram Syndrome	BEFREE	17637805		★★★★★ ★☆☆☆☆ Found in Text Mining only

NSD2 (nuclear receptor binding SET domain protein 2)