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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29072
Gene name	SET domain containing 2, histone lysine methyltransferase
Gene symbol	SETD2
Synonyms (NCBI Gene)	HBP231HIF-1HIP-1HSPC069HYPBKMT3ALLSMRD70RAPASSET2p231HBP
Chromosome	3
Chromosome location	3p21.31
Summary	Huntington`s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting

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SNP ID	Visualize variation	Clinical significance	Consequence
rs115788094	G>A,T	Conflicting-interpretations-of-pathogenicity, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs869025569	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs869025570	A>C	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs869025571	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs869025572	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057518410	G>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057523157	G>A	Pathogenic, likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1064794751	T>A	Likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1064795661	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553691550	C>T	Drug-response	Splice acceptor variant, intron variant
rs1553699115	TTCT>-	Pathogenic	Splice acceptor variant, non coding transcript variant, coding sequence variant
rs1553700642	->TA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559634490	->C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1559720382	T>C	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs1575817869	AG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1575818503	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050126	hsa-miR-26a-5p	CLASH	23622248
MIRT044337	hsa-miR-106b-5p	CLASH	23622248
MIRT053100	hsa-miR-199b-5p	Luciferase reporter assayqRT-PCRWestern blot	23594994
MIRT437893	hsa-miR-21-5p	ChIP-seqLuciferase reporter assay	24983504
MIRT731626	hsa-miR-186-5p	Luciferase reporter assay	27159677
MIRT731626	hsa-miR-186-5p	Luciferase reporter assay	27159677
MIRT044337	hsa-miR-106b-5p	ChIP-seqImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	25714014
MIRT044337	hsa-miR-106b-5p	ChIP-seqImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	25714014
MIRT1340103	hsa-miR-1264	CLIP-seq
MIRT1340104	hsa-miR-1914	CLIP-seq
MIRT1340105	hsa-miR-3668	CLIP-seq
MIRT1340106	hsa-miR-3975	CLIP-seq
MIRT1340107	hsa-miR-4679	CLIP-seq
MIRT1340108	hsa-miR-4732-5p	CLIP-seq
MIRT1340109	hsa-miR-520d-5p	CLIP-seq
MIRT1340110	hsa-miR-524-5p	CLIP-seq
MIRT1340111	hsa-miR-548ad	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT1340113	hsa-miR-548p	CLIP-seq
MIRT2100505	hsa-miR-146a	CLIP-seq
MIRT2100506	hsa-miR-146b-5p	CLIP-seq
MIRT2100507	hsa-miR-3714	CLIP-seq
MIRT2100508	hsa-miR-4699-3p	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT2100509	hsa-miR-596	CLIP-seq
MIRT2325220	hsa-miR-1302	CLIP-seq
MIRT2325221	hsa-miR-3660	CLIP-seq
MIRT2325222	hsa-miR-4298	CLIP-seq
MIRT2325223	hsa-miR-4526	CLIP-seq
MIRT2325224	hsa-miR-4648	CLIP-seq
MIRT2325225	hsa-miR-4651	CLIP-seq
MIRT2325226	hsa-miR-608	CLIP-seq
MIRT2325227	hsa-miR-628-5p	CLIP-seq
MIRT2440191	hsa-miR-1253	CLIP-seq
MIRT2440192	hsa-miR-2277-3p	CLIP-seq
MIRT2440193	hsa-miR-3065-3p	CLIP-seq
MIRT2440194	hsa-miR-4428	CLIP-seq
MIRT2440195	hsa-miR-4434	CLIP-seq
MIRT2440196	hsa-miR-4516	CLIP-seq
MIRT2620887	hsa-miR-1182	CLIP-seq
MIRT2620888	hsa-miR-1238	CLIP-seq
MIRT2440191	hsa-miR-1253	CLIP-seq
MIRT1340103	hsa-miR-1264	CLIP-seq
MIRT2620889	hsa-miR-129-3p	CLIP-seq
MIRT2325220	hsa-miR-1302	CLIP-seq
MIRT2620890	hsa-miR-1305	CLIP-seq
MIRT2620891	hsa-miR-135a	CLIP-seq
MIRT2620892	hsa-miR-135b	CLIP-seq
MIRT1340104	hsa-miR-1914	CLIP-seq
MIRT2620893	hsa-miR-193a-5p	CLIP-seq
MIRT2440192	hsa-miR-2277-3p	CLIP-seq
MIRT2620894	hsa-miR-23a	CLIP-seq
MIRT2620895	hsa-miR-23b	CLIP-seq
MIRT2620896	hsa-miR-23c	CLIP-seq
MIRT2440193	hsa-miR-3065-3p	CLIP-seq
MIRT2620897	hsa-miR-3120-5p	CLIP-seq
MIRT2620898	hsa-miR-3148	CLIP-seq
MIRT2620899	hsa-miR-3167	CLIP-seq
MIRT2620900	hsa-miR-3176	CLIP-seq
MIRT2620901	hsa-miR-3183	CLIP-seq
MIRT2620902	hsa-miR-323-3p	CLIP-seq
MIRT2620903	hsa-miR-34b	CLIP-seq
MIRT2620904	hsa-miR-3614-5p	CLIP-seq
MIRT1340105	hsa-miR-3668	CLIP-seq
MIRT2620905	hsa-miR-3674	CLIP-seq
MIRT2620906	hsa-miR-369-3p	CLIP-seq
MIRT2620907	hsa-miR-374a	CLIP-seq
MIRT2620908	hsa-miR-374b	CLIP-seq
MIRT2620909	hsa-miR-374c	CLIP-seq
MIRT2620910	hsa-miR-3922-3p	CLIP-seq
MIRT2620911	hsa-miR-3935	CLIP-seq
MIRT1340106	hsa-miR-3975	CLIP-seq
MIRT2620912	hsa-miR-4263	CLIP-seq
MIRT2620913	hsa-miR-4287	CLIP-seq
MIRT2325222	hsa-miR-4298	CLIP-seq
MIRT2440194	hsa-miR-4428	CLIP-seq
MIRT2440195	hsa-miR-4434	CLIP-seq
MIRT2620914	hsa-miR-4435	CLIP-seq
MIRT2620915	hsa-miR-4469	CLIP-seq
MIRT2620916	hsa-miR-4502	CLIP-seq
MIRT2440196	hsa-miR-4516	CLIP-seq
MIRT2325224	hsa-miR-4648	CLIP-seq
MIRT2325225	hsa-miR-4651	CLIP-seq
MIRT1340107	hsa-miR-4679	CLIP-seq
MIRT2620917	hsa-miR-4685-3p	CLIP-seq
MIRT2620918	hsa-miR-4723-3p	CLIP-seq
MIRT1340108	hsa-miR-4732-5p	CLIP-seq
MIRT1340109	hsa-miR-520d-5p	CLIP-seq
MIRT1340110	hsa-miR-524-5p	CLIP-seq
MIRT2620919	hsa-miR-548aa	CLIP-seq
MIRT2620920	hsa-miR-548ac	CLIP-seq
MIRT1340111	hsa-miR-548ad	CLIP-seq
MIRT2620921	hsa-miR-548d-3p	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT1340113	hsa-miR-548p	CLIP-seq
MIRT2620922	hsa-miR-548z	CLIP-seq
MIRT2620923	hsa-miR-576-5p	CLIP-seq
MIRT2325226	hsa-miR-608	CLIP-seq
MIRT2620924	hsa-miR-655	CLIP-seq
MIRT2620925	hsa-miR-876-5p	CLIP-seq
MIRT2620926	hsa-miR-944	CLIP-seq
MIRT2620887	hsa-miR-1182	CLIP-seq
MIRT2620888	hsa-miR-1238	CLIP-seq
MIRT2440191	hsa-miR-1253	CLIP-seq
MIRT1340103	hsa-miR-1264	CLIP-seq
MIRT2620889	hsa-miR-129-3p	CLIP-seq
MIRT2325220	hsa-miR-1302	CLIP-seq
MIRT2620890	hsa-miR-1305	CLIP-seq
MIRT2620891	hsa-miR-135a	CLIP-seq
MIRT2620892	hsa-miR-135b	CLIP-seq
MIRT1340104	hsa-miR-1914	CLIP-seq
MIRT2620893	hsa-miR-193a-5p	CLIP-seq
MIRT2440192	hsa-miR-2277-3p	CLIP-seq
MIRT2440193	hsa-miR-3065-3p	CLIP-seq
MIRT2620897	hsa-miR-3120-5p	CLIP-seq
MIRT2620898	hsa-miR-3148	CLIP-seq
MIRT2620899	hsa-miR-3167	CLIP-seq
MIRT2620900	hsa-miR-3176	CLIP-seq
MIRT2620901	hsa-miR-3183	CLIP-seq
MIRT2620903	hsa-miR-34b	CLIP-seq
MIRT2620904	hsa-miR-3614-5p	CLIP-seq
MIRT1340105	hsa-miR-3668	CLIP-seq
MIRT2620910	hsa-miR-3922-3p	CLIP-seq
MIRT1340106	hsa-miR-3975	CLIP-seq
MIRT2620912	hsa-miR-4263	CLIP-seq
MIRT2620913	hsa-miR-4287	CLIP-seq
MIRT2325222	hsa-miR-4298	CLIP-seq
MIRT2440194	hsa-miR-4428	CLIP-seq
MIRT2440195	hsa-miR-4434	CLIP-seq
MIRT2620914	hsa-miR-4435	CLIP-seq
MIRT2620915	hsa-miR-4469	CLIP-seq
MIRT2620916	hsa-miR-4502	CLIP-seq
MIRT2440196	hsa-miR-4516	CLIP-seq
MIRT2325224	hsa-miR-4648	CLIP-seq
MIRT2325225	hsa-miR-4651	CLIP-seq
MIRT1340107	hsa-miR-4679	CLIP-seq
MIRT2620917	hsa-miR-4685-3p	CLIP-seq
MIRT2620918	hsa-miR-4723-3p	CLIP-seq
MIRT1340108	hsa-miR-4732-5p	CLIP-seq
MIRT1340109	hsa-miR-520d-5p	CLIP-seq
MIRT1340110	hsa-miR-524-5p	CLIP-seq
MIRT2690509	hsa-miR-532-3p	CLIP-seq
MIRT2620919	hsa-miR-548aa	CLIP-seq
MIRT2620920	hsa-miR-548ac	CLIP-seq
MIRT1340111	hsa-miR-548ad	CLIP-seq
MIRT2620921	hsa-miR-548d-3p	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT1340113	hsa-miR-548p	CLIP-seq
MIRT2620922	hsa-miR-548z	CLIP-seq
MIRT2620923	hsa-miR-576-5p	CLIP-seq
MIRT2325226	hsa-miR-608	CLIP-seq
MIRT2620925	hsa-miR-876-5p	CLIP-seq
MIRT2620926	hsa-miR-944	CLIP-seq

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Transcription factor	Regulation	Reference
HIF1A	Activation	18842833
HIF1A	Unknown	19091749

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	17500595, 19141475, 21988832, 28753426, 36537238
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IBA
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0005737	Component	Cytoplasm	IC	36359729
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IMP	23622243
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006368	Process	Transcription elongation by RNA polymerase II	IMP	23325844
GO:0006974	Process	DNA damage response	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0010038	Process	Response to metal ion	IEA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IDA	36359729
GO:0010508	Process	Positive regulation of autophagy	IDA	36359729
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IDA	24843002
GO:0010793	Process	Regulation of mRNA export from nucleus	IMP	19141475
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	28753426
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018023	Process	Peptidyl-lysine trimethylation	IDA	27518565
GO:0030154	Process	Cell differentiation	IEA
GO:0032259	Process	Methylation	IEA
GO:0032465	Process	Regulation of cytokinesis	IDA	27518565
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	28753426
GO:0034340	Process	Response to type I interferon	IDA	28753426
GO:0034728	Process	Nucleosome organization	IMP	23325844
GO:0035987	Process	Endodermal cell differentiation	ISS
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0043014	Function	Alpha-tubulin binding	IDA	27518565
GO:0043279	Process	Response to alkaloid	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IBA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IDA	23043551, 24843002, 26002201, 27474439, 28753426
GO:0046975	Function	Histone H3K36 methyltransferase activity	IEA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IMP	19141475, 23325844, 23622243
GO:0048863	Process	Stem cell differentiation	ISS
GO:0051607	Process	Defense response to virus	IDA	28753426
GO:0051607	Process	Defense response to virus	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	36359729
GO:0140938	Function	Histone H3 methyltransferase activity	TAS
GO:0140955	Function	Histone H3K36 trimethyltransferase activity	IEA
GO:1902850	Process	Microtubule cytoskeleton organization involved in mitosis	IDA	27518565
GO:1905634	Process	Regulation of protein localization to chromatin	IDA	24843002

MIM	HGNC	e!Ensembl
612778	18420	ENSG00000181555

Q9BYW2

Protein name

Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.359) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1

Protein function

Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439

PDB

2A7O , 2MDC , 2MDI , 2MDJ , 4FMU , 4H12 , 5JJY , 5JLB , 5JLE , 5LSS , 5LSX , 5LSY , 5LSZ , 5LT6 , 5LT7 , 5LT8 , 5V21 , 5V22 , 6J9J , 6VDB , 7EA8 , 7EVR , 7EVS , 7LZB , 7LZD , 7LZF , 7TY2 , 7TY3 , 8Q5P , 8RZU , 9EGZ , 9EH0 , 9EH1 , 9EH2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17907	AWS	1511 → 1547	AWS domain	Domain
PF00856	SET	1561 → 1667	SET domain	Family
PF00397	WW	2391 → 2420	WW domain	Domain
PF08236	SRI	2467 → 2557	SRI (Set2 Rpb1 interacting) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11461154}.

Sequence

MKQLQPQPPPKMGDFYDPEHPTPEEEENEAKIENVQKTGFIKGPMFKGVASSRFLPKGTK
TKVNLEEQGRQKVSFSFSLTKKTLQNRFLTALGNEKQSDTPNPPAVPLQVDSTPKMKMEI
GDTLSTAEESSPPKSRVELGKIHFKKHLLHVTSRPLLATTTAVASPPTHAAPLPAVIAES
TTVDSPPSSPPPPPPPAQATTLSSPAPVTEPVALPHTPITVLMAAPVPLPVDVAVRSLKE
PPIIIVPESLEADTKQDTISNSLEEHVTQILNEQADISSKKEDSHIGKDEEIPDSSKISL
SCKKTGSKKKSSQSEGIFLGSESDEDSVRTSSSQRSHDLKFSASIEKERDFKKSSAPLKS
EDLGKPSRSKTDRDDKYFSYSKLERDTRYVSSRCRSERERRRSRSHSRSERGSRTNLSYS
RSERSHYYDSDRRYHRSSPYRERTRYSRPYTDNRARESSDSEEEYKKTYSRRTSSHSSSY
RDLRTSSYSKSDRDCKTETSYLEMERRGKYSSKLERESKRTSENEAIKRCCSPPNELGFR
RGSSYSKHDSSASRYKSTLSKPIPKSDKFKNSFCCTELNEEIKQSHSFSLQTPCSKGSEL
RMINKNPEREKAGSPAPSNRLNDSPTLKKLDELPIFKSEFITHDSHDSIKELDSLSKVKN
DQLRSFCPIELNINGSPGAESDLATFCTSKTDAVLMTSDDSVTGSELSPLVKACMLSSNG
FQNISRCKEKDLDDTCMLHKKSESPFRETEPLVSPHQDKLMSMPVMTVDYSKTVVKEPVD
TRVSCCKTKDSDIYCTLNDSNPSLCNSEAENIEPSVMKISSNSFMNVHLESKPVICDSRN
LTDHSKFACEEYKQSIGSTSSASVNHFDDLYQPIGSSGIASSLQSLPPGIKVDSLTLLKC
GENTSPVLDAVLKSKKSSEFLKHAGKETIVEVGSDLPDSGKGFASRENRRNNGLSGKCLQ
EAQEEGNSILPERRGRPEISLDERGEGGHVHTSDDSEVVFSSCDLNLTMEDSDGVTYALK
CDSSGHAPEIVSTVHEDYSGSSESSNDESDSEDTDSDDSSIPRNRLQSVVVVPKNSTLPM
EETSPCSSRSSQSYRHYSDHWEDERLESRRHLYEEKFESIASKACPQTDKFFLHKGTEKN
PEISFTQSSRKQIDNRLPELSHPQSDGVDSTSHTDVKSDPLGHPNSEETVKAKIPSRQQE
ELPIYSSDFEDVPNKSWQQTTFQNRPDSRLGKTELSFSSSCEIPHVDGLHSSEELRNLGW
DFSQEKPSTTYQQPDSSYGACGGHKYQQNAEQYGGTRDYWQGNGYWDPRSGRPPGTGVVY
DRTQGQVPDSLTDDREEEENWDQQDGSHFSDQSDKFLLSLQKDKGSVQAPEISSNSIKDT
LAVNEKKDFSKNLEKNDIKDRGPLKKRRQEIESDSESDGELQDRKKVRVEVEQGETSVPP
GSALVGPSCVMDDFRDPQRWKECAKQGKMPCYFDLIEENVYLTERKKNKSHRDIKRMQCE
CTPLSKDERAQGEIACGEDCLNRLLMIECSSRCPNGDYCSNRRFQRKQHADVEVILTEKK
GWGLRAAKDLPSNTFVLEYCGEVLDHKEFKARVKEYARNKNIHYYFMALKNDEIIDATQK
GNCSRFMNHSCEPNCETQKWTVNGQLRVGFFTTKLVPSGSELTFDYQFQRYGKEAQKCFC
GSANCRGYLGGENRVSIRAAGGKMKKERSRKKDSVDGELEALMENGEGLSDKNQVLSLSR
LMVRIETLEQKLTCLELIQNTHSQSCLKSFLERHGLSLLWIWMAELGDGRESNQKLQEEI
IKTLEHLPIPTKNMLEESKVLPIIQRWSQTKTAVPPLSEGDGYSSENTSRAHTPLNTPDP
STKLSTEADTDTPKKLMFRRLKIISENSMDSAISDATSELEGKDGKEDLDQLENVPVEEE
EELQSQQLLPQQLPECKVDSETNIEASKLPTSEPEADAEIEPKESNGTKLEEPINEETPS
QDEEEGVSDVESERSQEQPDKTVDISDLATKLLDSWKDLKEVYRIPKKSQTEKENTTTER
GRDAVGFRDQTPAPKTPNRSRERDPDKQTQNKEKRKRRSSLSPPSSAYERGTKRPDDRYD
TPTSKKKVRIKDRNKLSTEERRKLFEQEVAQREAQKQQQQMQNLGMTSPLPYDSLGYNAP
HHPFAGYPPGYPMQAYVDPSNPNAGKVLLPTPSMDPVCSPAPYDHAQPLVGHSTEPLSAP
PPVPVVPHVAAPVEVSSSQYVAQSDGVVHQDSSVAVLPVPAPGPVQGQNYSVWDSNQQSV
SVQQQYSPAQSQATIYYQGQTCPTVYGVTSPYSQTTPPIVQSYAQPSLQYIQGQQIFTAH
PQGVVVQPAAAVTTIVAPGQPQPLQPSEMVVTNNLLDLPPPSPPKPKTIVLPPNWKTARD
PEGKIYYYHVITRQTQWDPPTWESPGDDASLEHEAEMDLGTPTYDENPMKASKKPKTAEA
DTSSELAKKSKEVFRKEMSQFIVQCLNPYRKPDCKVGRITTTEDFKHLARKLTHGVMNKE
LKYCKNPEDLECNENVKHKTKEYIKKYMQKFGAVYKPKEDTELE

Sequence length

2564

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		PKMTs methylate histone lysines

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 (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute megakaryoblastic leukemia without down syndrome	Likely pathogenic	rs2043042281, rs1293916143	RCV001293748 RCV001293749	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic	rs774671060	RCV003127362	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar vermis hypoplasia	Likely pathogenic; Pathogenic	rs1057523157	RCV000779643	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1057523157	RCV001258009	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs1057523157	RCV000779643	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dandy-Walker syndrome	Likely pathogenic; Pathogenic	rs1559720382	RCV001258008	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic syndrome with a Dandy-Walker malformation as major feature	Likely pathogenic; Pathogenic	rs1559720382	RCV000779642	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, autosomal dominant 70	Pathogenic	rs2107651195	RCV002467456	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs2107741763	RCV001526563	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Luscan-Lumish syndrome	Pathogenic; Likely pathogenic	rs2107600390, rs2107651058, rs2107651620, rs2043159037, rs2107575654, rs2107651195, rs2107696360, rs2107739635, rs2545516405, rs2545459997, rs869025569, rs869025570, rs869025571, rs869025572, rs2545631303 View all (12 more)	RCV001387444 RCV001386079 RCV001390195 RCV001788514 RCV001775269 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Pathogenic	rs2043159037, rs2107696360, rs1057518410, rs1553699115	RCV004671413 RCV006274281 RCV006273719 RCV006273942	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rabin-Pappas syndrome	Likely pathogenic; Pathogenic	rs1057523157	RCV002467447	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SETD2 associated neurodevelopmental disorder with multiple congenital anomalies	Likely pathogenic; Pathogenic	rs1057523157	RCV004554776	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SETD2-related disorder	Likely pathogenic; Pathogenic	rs2106710726, rs934035500, rs2545648723, rs1057523157	RCV004528029 RCV004539360 RCV004555056 RCV001267684	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2041433287	RCV005909226	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventriculomegaly	Likely pathogenic; Pathogenic	rs1559720382	RCV000779642	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (32)

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
Autism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	-; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	-; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA, EMBRYONAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOTOS SYNDROME	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wee1 Inhibitor response	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (344)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ABLEPHARON-MACROSTOMIA SYNDROME	Ablepharon macrostomia syndrome	BEFREE	21242666, 29927953, 30278484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Accessory kidney	Accessory Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	24509477, 30967619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24662245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18026974, 30377207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19735869, 26595459, 26646321, 27687306, 28202515, 31155235, 31599770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	23857671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	20117921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	21248752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18351386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	16954163, 19228690, 19671538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	17947829, 31695081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	22825389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	22846720, 30772502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	21544638		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24599125, 26976451, 30679163, 31300513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	31295466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29242064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	19834107, 28942242, 29920371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12456339, 22825389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	34296393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	23085754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19834107, 28942242, 29920371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26637798	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26084711, 26637798, 29681085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26084711		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	38359295	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	36768374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	34576156	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12242695, 12402159, 15217513, 17483326, 19212630, 19698110, 20944102, 21233846, 21338575, 21897387, 21911388, 22199269, 22875853, 23065515, 23129632 View all (17 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19698110	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	30990809, 33293374, 35653124, 36805183, 40429863	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31560931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	24293391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19698110, 26646321, 27813512, 28852847, 37528416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35152527	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18351386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	27474439, 28498454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27023146, 35260047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	30380176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	28878571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18239067, 20885442, 24403227, 24598366, 24824937, 28028936, 28202515, 28423489, 29891977, 30250643, 31221150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31060750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20054297, 22483639, 23036577, 23620406, 23867514, 24029645, 24158655, 24821879, 24843002, 25124064, 25528216, 25714014, 25728682, 25853938, 26111976 View all (48 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28260718	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	25181405, 27601172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17498666, 25756515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27903434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	20498255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	30419952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	30419952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19394379, 27896629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	14526383, 16842166, 21293012, 25972164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	31297056		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20206160, 23375385, 26718775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	20206160, 23375385, 26718775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29953500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	27229140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	27229140, 27474439, 32601382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	27072194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22138691, 23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	25692954, 31691948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27282254, 28038356, 31289209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic mountain sickness	Mountain sickness	BEFREE	18578644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	27056884, 30615982, 31728053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30250643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chuvash erythrocytosis	Chuvash Erythrocytosis	BEFREE	21993671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	23644518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	29066084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	31499711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	15489957, 22457366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28524162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22138691, 23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12163454, 17488804, 18365547, 19435875, 25979228, 27543779, 28341244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20429620, 20525878, 23348791, 24925220, 27742687, 28825595, 30038060, 30669593, 30756254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	16818642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27023146, 30018131, 38064496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24509477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	17268888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23988176, 26829118, 29678661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12781449, 15220362, 15964822, 16510593, 17482131, 20501857, 21798997, 22483639, 22949125, 23065515, 23620406, 23832661, 24029645, 24843002, 24916699 View all (26 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	UNIPROT_DG	20054297, 23622243, 23792563, 25728682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691, 23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16567545, 28444966, 31096895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16567545, 28444966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16567545, 28444966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	31499711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	17481912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	21360287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	38359295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23333658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27808477, 27846294, 30158902, 31214621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27808477, 27846294, 30158902, 31214621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31560931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	22495309, 23160955, 24267886, 24852293, 24901346, 25574603, 26084711, 27317772, 28424246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	CTD_human_DG	29376028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17342330, 22711307, 25556481, 25884381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	27600764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26084711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15771621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29866946	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	23785417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	29908837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30242180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	26799785, 28051796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	17999771, 21437769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29881350, 31009107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	25710915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	31585917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	22489693, 26338826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	31570771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	20412701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	BEFREE	30861589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10691731, 12082608, 16682012, 16849552, 20198320, 21658601, 22825389, 23712868, 24465898, 29535421, 29860315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26496030, 30861589, 34525361, 38079020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10691731, 12082608, 16682012, 16849552, 20198320, 21658601, 22825389, 23712868, 24465898, 27959421, 29535421, 29860315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16596228, 16612574, 16709030, 20515450, 22614725, 23417712, 28852847, 29156717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23417712, 28852847, 30419952, 33287886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31407364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	26790951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	14526383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23988176, 26829118, 29678661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	19228690, 25310734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	22900063		★★★★★ ★☆☆☆☆ Found in Text Mining only
hemangiopericytoma	Hemangiopericytoma	BEFREE	25310734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	29531312, 30818762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	21404119		★★★★★ ★☆☆☆☆ Found in Text Mining only
High altitude pulmonary hypertension	High altitude pulmonary edema	BEFREE	18578644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	16118227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18637945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19057015, 20551925, 21614571, 25222223, 30659610, 31214621, 31676796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16373853, 25772710, 25824146, 27432037, 31515405, 31537914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	28974422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	11803471, 15592500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	24927770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	20110409, 27667582, 30982984, 31242023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	20110409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	27589564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15489957, 22457366, 22606341, 23119050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26084711, 29681085		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27317772		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	26901836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	31498485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31704828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	22457366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31297056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23792300, 30315965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	23036577	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30325740, 31691948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	23449350, 28260718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	25728682, 28260718, 36662621, 37528416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24509477, 25592767, 27196781, 28498454, 29249820, 29531312, 29777171, 30818762, 30967619		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	CTD_human_DG	24509477		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	24509477, 28498454, 29777171	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Mast Cell	Mast cell leukemia	Pubtator	28663576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24509477, 27462774, 29777171, 30922329, 34576219, 35833755, 37874744	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36607144	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	28663576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	UNIPROT_DG	16314571, 24509477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16408098, 23059786, 28452374, 30922329, 30967619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28639619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11557773, 12821940, 14672622, 17145871, 18188720, 18978810, 20513003, 21140472, 21667015, 23933019, 24566861, 25101278, 25531114, 25823824, 26299656 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	31569127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11557773, 18978810, 21140472, 26299656, 28974422, 8917436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33407425, 36653483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35152527	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24232601		★★★★★ ★☆☆☆☆ Found in Text Mining only
LUSCAN-LUMISH SYNDROME	LUSCAN-LUMISH SYNDROME	UNIPROT_DG	23160955, 24852293, 26084711, 27317772		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LUSCAN-LUMISH SYNDROME	LUSCAN-LUMISH SYNDROME	GENOMICS_ENGLAND_DG	27317772		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LUSCAN-LUMISH SYNDROME	LUSCAN-LUMISH SYNDROME	BEFREE	29681085		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LUSCAN-LUMISH SYNDROME	LUSCAN-LUMISH SYNDROME	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LUSCAN-LUMISH SYNDROME	LUSCAN-LUMISH SYNDROME	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36653483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17785204, 20813154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	34576156, 35443279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	35030632, 35443279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	23333658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Cystosarcoma Phyllodes	Cystosarcoma Phyllodes	CTD_human_DG	26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17332917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	26928227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	27834213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12242695, 12402159, 15217513, 17483326, 19212630, 19698110, 20944102, 21338575, 21746877, 21897387, 21911388, 22199269, 22875853, 22921864, 23065515 View all (18 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22711307, 25556481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	21233420, 23218074, 25728682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	28878571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25736100, 26172293, 28123525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20885442, 23448368, 24403227, 24598366, 24824937, 25556481, 28028936, 28202515, 28423489, 29891977, 30250643, 31221150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17498666, 25756515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12499918, 12651620, 17312464, 17651733, 19417024, 20587661, 24008827, 24198204, 27566398, 28801636, 29535824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15899803, 17213816, 17426252, 18506761, 19845601, 22083267, 22505354, 23924028, 24035332, 26450901, 29760417, 30488478, 30620187, 30837551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20491781, 25040744, 26760764, 29522714, 29603227, 29737213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10849654, 11522653, 12124175, 12195866, 12507560, 12532423, 12558074, 12900407, 13130303, 14988927, 15048086, 15086970, 15135470, 15141023, 15272235 View all (148 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20206160, 23375385, 26718775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12163454, 17488804, 18365547, 19435875, 25979228, 27543779, 28341244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17958397, 21462085, 29629903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mannose-Binding Protein Deficiency	Mannose-Binding Protein Deficiency	BEFREE	28966513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	28663576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	28663576		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12205045, 21233846, 21949374, 23275444, 30504385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	25310734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	23333658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	27813512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	27813512, 27834213, 32083805, 32504035, 34648949, 35999269	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	30422989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22865452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	27858285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	23333658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	18026974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20404562, 31289203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29531312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	31054182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	31728053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16842166, 29652636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	23988176, 31096895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25714020, 30557400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10353251, 11156414, 11803471, 12499918, 12558074, 12781449, 13130303, 14672622, 15003941, 15035285, 15048086, 15135470, 15141023, 15220362, 15313402 View all (192 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15352172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30242180, 31009107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27553958, 28042952, 29966011, 30381462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27430909, 29935943, 30772502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30422989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28219807, 30422989, 30746871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21360287, 25884381, 26077139, 28045433, 28534992, 29724721, 29807229, 29842882, 30278484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	25756515		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17498666, 18498645, 25756515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12499918, 17312464, 19417024, 20587661, 24008827, 24198204, 27566398, 28801636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31060750, 31300513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	25119596, 29535824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36453584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	36453584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22138691, 23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary renal cell carcinoma, sporadic	Papillary renal carcinoma	BEFREE	21281817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	14991901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26768367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	31060750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	29654284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	25861162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30746871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	20926496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	17150152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	28910456, 37453150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	22665973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peyronie Disease	Peyronie Disease	BEFREE	18599338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	19228690, 19671538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	CTD_human_DG	26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31327131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	8982288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	21512135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28664719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	UNIPROT_DG	24509477, 24662245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	31350389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	14570852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15899803, 16678800, 17213816, 17426252, 18506761, 19845601, 22083267, 22505354, 23924028, 24035332, 26450901, 29760417, 30488478, 30620187, 30837551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	15156201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32931739	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27667582, 30982984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	17761615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	20117921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21233420, 23218074, 25728682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15220362, 15964822, 17482131, 19228690, 20032376, 22483639, 23065515, 23832661, 24916699, 26452128, 26646321, 27507852, 27528607, 28476527, 28851650 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691, 23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29352658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	17947829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31251468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31341109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	26111976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	17043658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	29641463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19758219, 29765031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	28382782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	35301413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacrococcygeal teratoma	Sacrococcygeal teratoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691, 23797736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16632332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28277320, 29530072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27754829, 30669593, 31116583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28430666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33880365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sotos syndrome	Sotos` Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sotos` syndrome	Sotos` Syndrome	ORPHANET_DG	24852293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	29681085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	19900269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19212630, 19374849, 30377207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30904401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16077932, 19762474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30242180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	24927770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20491781, 25040744, 26760764, 29522714, 29603227, 29737213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28381181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	27474439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	19306159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	31116583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	32029730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	25482724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	25482724		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	19808899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24248265, 26229077, 29880481, 30423844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	31060750	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	16826425, 26761211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	20164116, 20498255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	10353251, 11156414, 15035285, 15220362, 15824735, 17189520, 22949125, 25310734, 27482884		★★★★★ ★☆☆☆☆ Found in Text Mining only

SETD2 (SET domain containing 2, histone lysine methyltransferase)