EHMT1 (euchromatic histone lysine methyltransferase 1)

Gene

• Entrez ID: 79813
• Gene name: Euchromatic histone lysine methyltransferase 1
• Gene symbol: EHMT1
• Synonyms (NCBI Gene): EHMT1-IT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KLEFS1, KMT1D
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35285441	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs121918301	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137852714	C>A,T	Pathogenic	Synonymous variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs137852715	GGCACCAGGAGAC>-	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
rs137852716	AGAC>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs137852717	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, stop gained
rs137852718	C>A,T	Pathogenic, benign, likely-benign	Genic downstream transcript variant, synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs137852720	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant
rs137852721	GT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs137852722	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs137852724	G>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs137852725	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137852726	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs138824805	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs139206060	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs144085805	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs144949902	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs146125583	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, intron variant
rs182595609	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs202097707	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs368087892	C>G,T	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant
rs377070695	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs398124404	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs398124407	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs587780332	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs749848324	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant
rs752178081	C>G,T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs772286870	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs773020101	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs777106945	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs780742937	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs781254508	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs786205129	TTCT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205601	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs794727979	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs797045043	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs869312936	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs879255531	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs886037776	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs886039703	G>A	Pathogenic	Intron variant, genic downstream transcript variant
rs886041093	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs886041450	C>AAG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886041797	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs886041844	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs886042018	C>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic downstream transcript variant
rs886042048	ATGGA>TGGG	Pathogenic	Coding sequence variant, initiator codon variant, frameshift variant, genic downstream transcript variant
rs886042181	AGAA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs886063743	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs1057518849	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1057518913	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, splice donor variant, genic upstream transcript variant, missense variant
rs1057524142	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1064793748	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1064796085	AG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1064796996	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1085307734	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1085307748	C>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs1085307843	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691715	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1325669112	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs1429360126	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1554846052	AGCGATGCCA>CCATT	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554846766	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554852597	A>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554852648	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554852664	C>-,CC	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554859292	->C	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554867189	GT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1554871138	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554871182	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554879411	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554879633	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554880275	->CCCAAAGCAGCTGTACT	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554888910	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554888939	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1554895172	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554896104	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554896575	TC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554896943	TGGAAGACGTAGTTGTGACTGGGAGGGGAAATGGAAGGCCTGTGCCTGCACGTCTGACCCCCCGGCGCCTCTCTTCTCAGTACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCT>-	Pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1554897110	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs1554897763	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554897852	CGCGTG>TT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554908290	GTCAGCCGGTTC>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs1554908367	->CCGTGC	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe insertion
rs1554908411	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1564704133	G>T	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1564744631	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1588481921	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588533423	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588533561	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588553447	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs1588642071	->TGATGCGCCCCTCCAACAAGGCCCC	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant
rs1588770875	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1588784791	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1588854011	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1588875719	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001369	hsa-miR-1-3p	pSILAC	18668040
MIRT001369	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT046028	hsa-miR-125b-5p	CLASH	23622248
MIRT044136	hsa-miR-30e-5p	CLASH	23622248
MIRT042121	hsa-miR-484	CLASH	23622248
MIRT040045	hsa-miR-615-3p	CLASH	23622248
MIRT955623	hsa-miR-1231	CLIP-seq
MIRT955624	hsa-miR-1238	CLIP-seq
MIRT955625	hsa-miR-1285	CLIP-seq
MIRT955626	hsa-miR-2052	CLIP-seq
MIRT955627	hsa-miR-2113	CLIP-seq
MIRT955628	hsa-miR-2117	CLIP-seq
MIRT955629	hsa-miR-223	CLIP-seq
MIRT955630	hsa-miR-296-5p	CLIP-seq
MIRT955631	hsa-miR-3065-3p	CLIP-seq
MIRT955632	hsa-miR-3074-5p	CLIP-seq
MIRT955633	hsa-miR-3117-3p	CLIP-seq
MIRT955634	hsa-miR-3130-3p	CLIP-seq
MIRT955635	hsa-miR-3169	CLIP-seq
MIRT955636	hsa-miR-3187-5p	CLIP-seq
MIRT955637	hsa-miR-34b	CLIP-seq
MIRT955638	hsa-miR-375	CLIP-seq
MIRT955639	hsa-miR-4273	CLIP-seq
MIRT955640	hsa-miR-4288	CLIP-seq
MIRT955641	hsa-miR-4464	CLIP-seq
MIRT955642	hsa-miR-4668-3p	CLIP-seq
MIRT955643	hsa-miR-4677-5p	CLIP-seq
MIRT955644	hsa-miR-4710	CLIP-seq
MIRT955645	hsa-miR-4748	CLIP-seq
MIRT955646	hsa-miR-4759	CLIP-seq
MIRT955647	hsa-miR-4792	CLIP-seq
MIRT955648	hsa-miR-4799-5p	CLIP-seq
MIRT955649	hsa-miR-561	CLIP-seq
MIRT955650	hsa-miR-595	CLIP-seq
MIRT955651	hsa-miR-612	CLIP-seq
MIRT955652	hsa-miR-632	CLIP-seq
MIRT955653	hsa-miR-648	CLIP-seq
MIRT955654	hsa-miR-661	CLIP-seq
MIRT955655	hsa-miR-766	CLIP-seq
MIRT955656	hsa-miR-877	CLIP-seq
MIRT955657	hsa-miR-933	CLIP-seq
MIRT955658	hsa-miR-935	CLIP-seq
MIRT1983065	hsa-miR-103b	CLIP-seq
MIRT955627	hsa-miR-2113	CLIP-seq
MIRT1983066	hsa-miR-2355-3p	CLIP-seq
MIRT1983067	hsa-miR-3192	CLIP-seq
MIRT1983068	hsa-miR-3529	CLIP-seq
MIRT1983069	hsa-miR-3612	CLIP-seq
MIRT1983070	hsa-miR-3652	CLIP-seq
MIRT1983071	hsa-miR-3689a-3p	CLIP-seq
MIRT1983072	hsa-miR-3689c	CLIP-seq
MIRT1983073	hsa-miR-379	CLIP-seq
MIRT1983074	hsa-miR-409-3p	CLIP-seq
MIRT1983075	hsa-miR-4328	CLIP-seq
MIRT1983076	hsa-miR-4430	CLIP-seq
MIRT1983077	hsa-miR-4451	CLIP-seq
MIRT1983078	hsa-miR-4474-3p	CLIP-seq
MIRT1983079	hsa-miR-4505	CLIP-seq
MIRT1983080	hsa-miR-4646-3p	CLIP-seq
MIRT1983081	hsa-miR-4650-3p	CLIP-seq
MIRT1983082	hsa-miR-4728-5p	CLIP-seq
MIRT1983083	hsa-miR-4768-3p	CLIP-seq
MIRT1983084	hsa-miR-599	CLIP-seq
MIRT1983085	hsa-miR-650	CLIP-seq
MIRT1983086	hsa-miR-664	CLIP-seq
MIRT1983087	hsa-miR-676	CLIP-seq
MIRT1983088	hsa-miR-891a	CLIP-seq
MIRT1983065	hsa-miR-103b	CLIP-seq
MIRT2218241	hsa-miR-1202	CLIP-seq
MIRT955625	hsa-miR-1285	CLIP-seq
MIRT2218242	hsa-miR-18a	CLIP-seq
MIRT2218243	hsa-miR-18b	CLIP-seq
MIRT2218244	hsa-miR-1908	CLIP-seq
MIRT2218245	hsa-miR-191	CLIP-seq
MIRT2218246	hsa-miR-1972	CLIP-seq
MIRT955628	hsa-miR-2117	CLIP-seq
MIRT955629	hsa-miR-223	CLIP-seq
MIRT1983066	hsa-miR-2355-3p	CLIP-seq
MIRT2218247	hsa-miR-28-3p	CLIP-seq
MIRT955630	hsa-miR-296-5p	CLIP-seq
MIRT955633	hsa-miR-3117-3p	CLIP-seq
MIRT955634	hsa-miR-3130-3p	CLIP-seq
MIRT955635	hsa-miR-3169	CLIP-seq
MIRT955636	hsa-miR-3187-5p	CLIP-seq
MIRT2218248	hsa-miR-3194-5p	CLIP-seq
MIRT2218249	hsa-miR-3661	CLIP-seq
MIRT955638	hsa-miR-375	CLIP-seq
MIRT2218250	hsa-miR-3972	CLIP-seq
MIRT1983074	hsa-miR-409-3p	CLIP-seq
MIRT2218251	hsa-miR-421	CLIP-seq
MIRT955639	hsa-miR-4273	CLIP-seq
MIRT2218252	hsa-miR-4310	CLIP-seq
MIRT955641	hsa-miR-4464	CLIP-seq
MIRT2218253	hsa-miR-4470	CLIP-seq
MIRT1983078	hsa-miR-4474-3p	CLIP-seq
MIRT1983080	hsa-miR-4646-3p	CLIP-seq
MIRT955643	hsa-miR-4677-5p	CLIP-seq
MIRT2218254	hsa-miR-4709-5p	CLIP-seq
MIRT955644	hsa-miR-4710	CLIP-seq
MIRT2218255	hsa-miR-4711-5p	CLIP-seq
MIRT2218256	hsa-miR-4717-5p	CLIP-seq
MIRT2218257	hsa-miR-4722-3p	CLIP-seq
MIRT2218258	hsa-miR-4735-3p	CLIP-seq
MIRT955645	hsa-miR-4748	CLIP-seq
MIRT2218259	hsa-miR-4753-3p	CLIP-seq
MIRT2218260	hsa-miR-4755-3p	CLIP-seq
MIRT955646	hsa-miR-4759	CLIP-seq
MIRT2218261	hsa-miR-4789-5p	CLIP-seq
MIRT955647	hsa-miR-4792	CLIP-seq
MIRT2218262	hsa-miR-548c-3p	CLIP-seq
MIRT2218263	hsa-miR-548u	CLIP-seq
MIRT2218264	hsa-miR-582-5p	CLIP-seq
MIRT955651	hsa-miR-612	CLIP-seq
MIRT2218265	hsa-miR-631	CLIP-seq
MIRT955654	hsa-miR-661	CLIP-seq
MIRT2218266	hsa-miR-663	CLIP-seq
MIRT1983087	hsa-miR-676	CLIP-seq
MIRT955656	hsa-miR-877	CLIP-seq
MIRT955658	hsa-miR-935	CLIP-seq
MIRT2218267	hsa-miR-95	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IBA
GO:0001222	Function	Transcription corepressor binding	IEA
GO:0001222	Function	Transcription corepressor binding	IPI	29628311
GO:0002039	Function	P53 binding	IEA
GO:0002039	Function	P53 binding	IPI	20118233
GO:0005515	Function	Protein binding	IPI	16702210, 19061646, 20871592, 21131967, 26496610
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	12004135
GO:0005634	Component	Nucleus	IDA	19144645
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	IDA	12004135
GO:0006325	Process	Chromatin organization	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	ISS
GO:0008168	Function	Methyltransferase activity	IDA	12004135
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	20118233
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016604	Component	Nuclear body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018026	Process	Peptidyl-lysine monomethylation	ISS
GO:0018027	Process	Peptidyl-lysine dimethylation	IDA	20118233
GO:0032259	Process	Methylation	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IBA
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IBA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IDA	12004135
GO:0046974	Function	Histone H3K9 methyltransferase activity	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	ISS
GO:0046976	Function	Histone H3K27 methyltransferase activity	IEA
GO:0046976	Function	Histone H3K27 methyltransferase activity	ISS
GO:0060992	Process	Response to fungicide	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	24196706
GO:0140718	Process	Facultative heterochromatin formation	IEA
GO:0140938	Function	Histone H3 methyltransferase activity	IEA
GO:0140947	Function	Histone H3K9me2 methyltransferase activity	IEA

Other IDs

• MIM: 607001
• HGNC: 24650
• e!Ensembl: ENSG00000181090

Protein

• UniProt ID: Q9H9B1
• Protein name: Histone-lysine N-methyltransferase EHMT1 (EC 2.1.1.-) (EC 2.1.1.367) (Euchromatic histone-lysine N-methyltransferase 1) (Eu-HMTase1) (G9a-like protein 1) (GLP) (GLP1) (Histone H3-K9 methyltransferase 5) (H3-K9-HMTase 5) (Lysine N-methyltransferase 1D)
• Protein function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to
• PDB: 2IGQ, 2RFI, 3B7B, 3B95, 3FPD, 3HNA, 3MO0, 3MO2, 3MO5, 3SW9, 3SWC, 4I51, 5TTG, 5TUZ, 5V9J, 5VSD, 5VSF, 6BY9, 6MBO, 6MBP, 7T7M, 8XPT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	742 → 836	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	830 → 903	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	910 → 996	Ankyrin repeats (3 copies)	Repeat
  PF05033	Pre-SET	1014 → 1118	Pre-SET motif	Family
  PF00856	SET	1137 → 1243	SET domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11347906}.
• Sequence:

  MAAADAEAVPARGEPQQDCCVKTELLGEETPMAADEGSAEKQAGEAHMAADGETNGSCEN
  SDASSHANAAKHTQDSARVNPQDGTNTLTRIAENGVSERDSEAAKQNHVTADDFVQTSVI
  GSNGYILNKPALQAQPLRTTSTLASSLPGHAAKTLPGGAGKGRTPSAFPQTPAAPPATLG
  EGSADTEDRKLPAPGADVKVHRARKTMPKSVVGLHAASKDPREVREARDHKEPKEEINKN
  ISDFGRQQLLPPFPSLHQSLPQNQCYMATTKSQTACLPFVLAAAVSRKKKRRMGTYSLVP
  KKKTKVLKQRTVIEMFKSITHSTVGSKGEKDLGASSLHVNGESLEMDSDEDDSEELEEDD
  GHGAEQAAAFPTEDSRTSKESMSEADRAQKMDGESEEEQESVDTGEEEEGGDESDLSSES
  SIKKKFLKRKGKTDSPWIKPARKRRRRSRKKPSGALGSESYKSSAGSAEQTAPGDSTGYM
  EVSLDSLDLRVKGILSSQAEGLANGPDVLETDGLQEVPLCSCRMETPKSREITTLANNQC
  MATESVDHELGRCTNSVVKYELMRPSNKAPLLVLCEDHRGRMVKHQCCPGCGYFCTAGNF
  MECQPESSISHRFHKDCASRVNNASYCPHCGEESSKAKEVTIAKADTTSTVTPVPGQEKG
  SALEGRADTTTGSAAGPPLSEDDKLQGAASHVPEGFDPTGPAGLGRPTPGLSQGPGKETL
  ESALIALDSEKPKKLRFHPKQLYFSARQGELQKVLLMLVDGIDPNFKMEHQNKRSPLHAA
  AEAGHVDICHMLVQAGANIDTCSEDQRTPLMEAAENNHLEAVKYLIKAGALVDPKDAEGS
  TCLHLAAKKGHYEVVQYLLSNGQMDVNCQDDGGWTPMIWATEYKHVDLVKLLLSKGSDIN
  IRDNEENICLHWAAFSGCVDIAEILLAAKCDLHAVNIHGDSPLHIAARENRYDCVVLFLS
  RDSDVTLKNKEGETPLQCASLNSQVWSALQMSKALQDSAPDRPSPVERIVSRDIARGYER
  IPIPCVNAVDSEPCPSNYKYVSQNCVTSPMNIDRNITHLQYCVCIDDCSSSNCMCGQLSM
  RCWYDKDGRLLPEFNMAEPPLIFECNHACSCWRNCRNRVVQNGLRARLQLYRTRDMGWGV
  RSLQDIPPGTFVCEYVGELISDSEADVREEDSYLFDLDNKDGEVYCIDARFYGNVSRFIN
  HHCEPNLVPVRVFMAHQDLRFPRIAFFSTRLIEAGEQLGFDYGERFWDIKGKLFSCRCGS
  PKCRHSSAALAQRQASAAQEAQEDGLPDTSSAAAADPL

• Sequence length: 1298

Pathways

KEGG:

Lysine degradation
Metabolic pathways
Longevity regulating pathway

Reactome:

Senescence-Associated Secretory Phenotype (SASP)
PKMTs methylate histone lysines
Regulation of TP53 Activity through Methylation
Transcriptional Regulation by VENTX
Transcriptional Regulation by E2F6

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal facial shape	Pathogenic	rs1057518849	RCV000415193	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic	rs886037776	RCV000241547	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Difficulty walking	Pathogenic	rs1057518849	RCV000415193	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EHMT1-related disorder	Likely pathogenic; Pathogenic	rs1233778317, rs2538413303	RCV003391375 RCV003406090	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs1057518849	RCV000415193	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs786205129, rs1945375812, rs1949924324, rs1953425077, rs1955015534	RCV005625260 RCV001260702 RCV001260701 RCV001260703 RCV001260704	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kleefstra syndrome	Likely pathogenic; Pathogenic	rs2133154359, rs2541617396	RCV002223147 RCV004017975	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kleefstra syndrome 1	Pathogenic; Likely pathogenic	rs1954627505, rs2136355927, rs2135388757, rs2136712996, rs2137672729, rs2137711618, rs2137714332, rs2135511963, rs2136274853, rs2136894487, rs2132792568, rs587780332, rs2135501951, rs2133152290, rs2132809199, rs2135784846, rs2137381305, rs2136218711, rs1950997931, rs886041093, rs2538996505, rs2538621598, rs2541781408, rs2542371206, rs2541031934, rs2538720329, rs2538720142, rs2538357710, rs121918301, rs137852715, rs137852726, rs137852714, rs761775030, rs2541033401, rs2538653083, rs2541878110, rs797045043, rs2542367876, rs2541617604, rs2541310904, rs2541309055, rs2538719684, rs2538204213, rs886037776, rs2538750175, rs879255531, rs2541617396, rs886041844, rs2542366657, rs752983885, rs2538720112, rs2541033292, rs2538623019, rs2542393861, rs2541033378, rs2541314706, rs137852724, rs2538652500, rs2538660511, rs2541039394, rs2542423042, rs2542422524, rs2538620071, rs1057518913, rs1057518849, rs1064796085, rs1085307734, rs1554867189, rs1554908290, rs1554880275, rs1554896575, rs1554846766, rs1554897763, rs1554852664, rs1554896943, rs749848324, rs1554888939, rs1554871138, rs1564744631, rs1564509503, rs1429360126, rs1564704457, rs1564697048, rs1588481921, rs1588770875, rs1588553447, rs1588875719, rs137852716, rs137852717, rs137852718, rs1554879411, rs137852720, rs137852721, rs137852722, rs786205129, rs137852725, rs137852727, rs1588854011, rs368087892, rs1325669112, rs1564618717, rs1474604202, rs1949206105, rs1588784791, rs1948278092, rs1951085667, rs1842769868, rs1945392174, rs1956455734, rs1954891050, rs1945375812, rs1953188177, rs1955068468, rs1955070984, rs1234654104, rs1949929359	RCV001333222 RCV001353178 RCV001379770 RCV001390475 RCV001388303 RCV004720313 RCV001706796 RCV001706855 RCV001706951 RCV001823438 RCV001900886 RCV002528212 RCV001940866 RCV001941593 RCV001891292 RCV002039841 RCV002245285 RCV002249929 RCV002249930 RCV002249931 RCV002280019 RCV002287267 RCV002288354 RCV002288390 RCV002289361 RCV002294581 RCV002465442 RCV002471975 RCV000003789 RCV000003790 RCV000003791 RCV000003792 RCV002651008 RCV002584406 RCV002627033 RCV002662530 RCV000191083 RCV002820520 RCV002872122 RCV002871624 RCV002907931 RCV002904576 RCV003018269 RCV000241547 RCV003214124 RCV000239430 RCV003226110 RCV000258918 RCV001808728 RCV003233382 RCV003234810 RCV003444040 RCV003504093 RCV003503092 RCV003610181 RCV003610109 RCV003608724 RCV003984988 RCV003988666 RCV003990590 RCV004018035 RCV004018048 RCV004545965 RCV004557281 RCV000856744 RCV001007951 RCV001333219 RCV001764467 RCV000655937 RCV000502285 RCV000505190 RCV004720270 RCV002529047 RCV002530372 RCV003333084 RCV000034168 RCV004783824 RCV000625971 RCV001775139 RCV000679974 RCV000695795 RCV000686881 RCV000760267 RCV000760187 RCV000825011 RCV000825019 RCV004596365 RCV000856775 RCV000055956 RCV000055958 RCV000055959 RCV000055960 RCV000055961 RCV000055962 RCV000055963 RCV000055964 RCV000055965 RCV000055966 RCV000055967 RCV000988316 RCV000988317 RCV000988318 RCV001057592 RCV001195946 RCV001199026 RCV001209181 RCV001249617 RCV001249618 RCV001251096 RCV001254072 RCV001254911 RCV001258341 RCV001263214 RCV005419059 RCV001261280 RCV001264758 RCV005622095 RCV001280600 RCV001280838	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic; Pathogenic	rs1588553447, rs1588784791	RCV000850475 RCV000850472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polymicrogyria	Pathogenic	rs1057518849	RCV000415193	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ 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
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLEEFSTRA SYNDROME DUE TO A POINT MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	30948746		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	28102093, 29463450		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28105738, 28249585		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	29539609		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	36793283	Associate	★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31616396		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	31804189		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30465895		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	27908915, 28811293, 28964791, 29433086, 29949410		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30683681		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30683681		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	25876091, 30103898		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31616396		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23469279, 28608285, 29220092, 29283509, 29325849, 29884547, 31270216, 31747801, 31778747		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29070572		★☆☆☆☆ Found in Text Mining only
Arthritis, Sacroiliac	Sacroiliac Arthritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27928844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	23469279, 28608285, 29220092, 29283509, 29325849, 29884547, 30786725, 31270216, 31286271, 31747801, 31778747		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	38144512	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28569363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	22890305, 28057753, 28742076, 29317598, 29416845, 32722525	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22890305, 28742076, 29069077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	27651234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	27651234, 27789404, 30881319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	27789404, 37257768	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	29771387		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30954559		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	28808865		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31680842		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21638053, 29045658		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	28808865		★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	28469580		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	29231147		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34214254	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29259012		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26952936		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22963445, 23469279, 28407414, 29272081, 29702499, 29805980, 29865997, 29886514, 29944969, 30519831, 30545359, 30607467, 30700910, 30810055, 30904510, 31064213, 31108136, 31124035, 31254356, 31255662, 31352613, 31359366, 31373167, 31381891, 31551292, 31673896, 31686781, 31802265, 31825468		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	27862873		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	31037120		★☆☆☆☆ Found in Text Mining only
Cerebral cortical hemiatrophy	Cerebral cortical hemiatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28407414, 28477558, 28489279, 29113708, 29411931, 29705602, 29776406, 29865997, 30406850, 30653708, 30713085, 30794833, 30957945, 31175007, 31307484, 31373167, 31436559		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	31379119		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	21681934		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31691043		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	BEFREE	30137354		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	28244632		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28366423, 28432726, 30477733, 30786725		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28366423, 28566304, 31124035, 31318152		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29855824		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28560433, 30836679		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28552096		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29554304, 30703547		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29283894		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35748228	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27610604, 27653447, 28086882, 28242257, 28431666, 29421011, 29437648, 29805980, 30196071, 30259198, 30348145, 30503377, 30598343, 30609236, 30653708, 30786725, 31028667, 31175007, 31373167, 31408637, 31436559, 31462224, 31479706, 31495989, 31778747, 31779634, 31816162		★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	22240132, 30271789, 31231210, 31257516		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	22240132, 27797930, 30271789		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	22240132, 27058611, 30271789		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28776152		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30259623		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31300920		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30831439		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	21681934		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25307298, 26993267, 31209758, 36216811, 37257768	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15642594, 17164779, 20082866, 20856794, 21029027, 21347622, 21495117, 22928568, 22951144, 24719110, 25626737, 25834231, 27232339, 27677385, 27717194, 28065744, 28153578, 28260235, 28290604, 28365524, 28371189, 28478583, 28533020, 28562585, 28610922, 28677333, 28721686, 28748377, 28754350, 28892258, 28929278, 28938487, 28942790, 28969637, 29063511, 29082261, 29104476, 29167470, 29225158, 29247356, 29325849, 29334697, 29364586, 29402504, 29412833, 29449951, 29545266, 29551659, 29884547, 30028989, 30061863, 30187176, 30259623, 30267825, 30348145, 30396070, 30520247, 30637966, 30730773, 30788807, 30906473, 30948746, 30990695, 31064213, 31209982, 31216324, 31221697, 31231210, 31260047, 31262142, 31264757, 31307484, 31321014, 31352613, 31354627, 31359367, 31366085, 31425698, 31471633, 31580912, 31595657, 31600725, 31612835, 31654678, 31725337, 31756326, 31785994, 31815785, 31837333		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15642594, 17164779, 20082866, 20856794, 21029027, 21347622, 21495117, 22928568, 22951144, 24719110, 25626737, 25834231, 27232339, 27677385, 27717194, 28062192, 28065744, 28153578, 28260235, 28290604, 28365524, 28371189, 28478583, 28533020, 28562585, 28610922, 28677333, 28721686, 28748377, 28754350, 28892258, 28929278, 28938487, 28942790, 28969637, 29063511, 29082261, 29104476, 29167470, 29225158, 29247356, 29325849, 29334697, 29364586, 29402504, 29412833, 29449951, 29545266, 29551659, 29568881, 29884547, 30028989, 30061863, 30187176, 30259623, 30267825, 30348145, 30396070, 30520247, 30637966, 30730773, 30772113, 30788807, 30906473, 30948746, 30990695, 31064213, 31209982, 31216324, 31221697, 31231210, 31260047, 31262142, 31264757, 31307484, 31321014, 31352613, 31354627, 31359367, 31366085, 31425698, 31471633, 31580912, 31595657, 31600725, 31612835, 31654678, 31725337, 31756326, 31785994, 31815785, 31837333		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25812118	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12659868, 17164779, 20856794, 27868372, 28211611, 28616805, 29659867, 30041175, 30209797, 30536789, 30612138, 30694794, 31031712, 31612934		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11124853, 14529486, 14719796, 15642594, 15780433, 18430365, 19190262, 20421298, 20518750, 21029027, 21638053, 21761282, 22928568, 23271639, 23469279, 24264040, 24666581, 25200998, 25204975, 25412624, 25785276, 27232339, 27405092, 27610604, 27629433, 27717126, 27717130, 27717195, 27717222, 27762096, 27776453, 27797930, 27823886, 27862873, 27884660, 27924636, 27928844, 27965024, 27981757, 28070733, 28077257, 28078541, 28086882, 28102093, 28105738, 28133970, 28150516, 28155131, 28181725, 28188972, 28223210, 28230449, 28233273, 28236271, 28242257, 28266749, 28274140, 28276830, 28284167, 28294702, 28325801, 28349443, 28349716, 28357715, 28393583, 28402902, 28407414, 28424924, 28431667, 28431670, 28432726, 28449402, 28451931, 28474401, 28489279, 28523483, 28526416, 28554128, 28555111, 28556176, 28569363, 28593550, 28616805, 28683295, 28722834, 28733377, 28741970, 28786523, 28799414, 28822994, 28824041, 28836861, 28840014, 28846606, 28855317, 28860072, 28918389, 28942790, 29036231, 29040429, 29053203, 29063511, 29074120, 29082261, 29119245, 29119712, 29134607, 29138226, 29167470, 29196084, 29217412, 29226685, 29272081, 29302047, 29310645, 29311450, 29324870, 29325553, 29329976, 29334278, 29334697, 29339031, 29344329, 29348573, 29364585, 29364588, 29369494, 29376760, 29392078, 29397532, 29411931, 29412811, 29412814, 29412833, 29421011, 29449951, 29453982, 29460259, 29462693, 29463450, 29473709, 29492243, 29508275, 29511288, 29521173, 29524296, 29536608, 29545266, 29547044, 29551659, 29557199, 29618657, 29663262, 29688502, 29693362, 29756388, 29799205, 29845208, 29886514, 29895290, 29910091, 29915923, 29932006, 29940597, 29941715, 29944969, 29949126, 29974618, 29975575, 30008428, 30009885, 30020461, 30033675, 30035626, 30041175, 30058208, 30083774, 30115742, 30121725, 30122358, 30142096, 30156451, 30171481, 30194951, 30196071, 30223083, 30227157, 30243806, 30250193, 30270567, 30271789, 30296182, 30306406, 30370686, 30372907, 30383495, 30413509, 30459715, 30506340, 30510163, 30530905, 30536761, 30536884, 30545359, 30561221, 30565096, 30573363, 30604598, 30607467, 30653708, 30660763, 30713085, 30714309, 30730773, 30732592, 30763128, 30768766, 30773997, 30778846, 30823403, 30823882, 30844468, 30847838, 30859500, 30896359, 30900349, 30961499, 30970605, 30974033, 30985052, 31028667, 31028689, 31040779, 31044636, 31061246, 31077072, 31078666, 31081693, 31114170, 31124035, 31127490, 31168889, 31175007, 31183762, 31203378, 31237921, 31238059, 31254356, 31256135, 31282028, 31286271, 31299132, 31308360, 31317516, 31318152, 31320446, 31326453, 31359367, 31364233, 31373167, 31387746, 31408637, 31415908, 31420784, 31459371, 31479706, 31491916, 31506889, 31514971, 31518433, 31525727, 31530665, 31539596, 31551292, 31580737, 31586692, 31599391, 31600725, 31605302, 31612934, 31640705, 31642583, 31673896, 31686781, 31727181, 31733280, 31747801, 31757028, 31758355, 31759125, 31759971, 31772945, 31790314, 31801807, 31802265, 31808132, 31838219, 8405712		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22963445, 29137984, 29845208, 30961500, 31373167, 31495989		★☆☆☆☆ Found in Text Mining only
Diabetic Polyneuropathies	Diabetic polyneuropathy	BEFREE	30918901		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28807775, 29104476, 29369494, 30058208, 30150234, 30862093, 31589290		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	29771387		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28772236, 29217412, 29275178, 29325849, 29345505, 30836679		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15805155, 16826528, 19264732, 22670141, 22726846, 24779060, 26808425, 29160022		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	31600725		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	30668640		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28870812, 30359962		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	21745271, 28065744, 28349245, 28676027, 28677333, 30359962, 30578967, 30961499, 31672448		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	30086287		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	21681934		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	31642583		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	28118069		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glucagonoma	Glucagonoma	BEFREE	3840748		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	27893464		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	38485322	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27610604, 27653447, 28086882, 28242257, 28431666, 29421011, 29437648, 29805980, 30196071, 30259198, 30348145, 30503377, 30598343, 30609236, 30653708, 30786725, 31028667, 31175007, 31373167, 31408637, 31436559, 31462224, 31479706, 31495989, 31778747, 31779634, 31816162		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	26759261		★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29224011		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30149534		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	31229924		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10415574, 11124853, 22547676, 22928568, 25626737, 26315270, 27629433, 28118069, 28274140, 28452237, 28579289, 28683295, 28756460, 28793909, 29138226, 29317623, 29392078, 29492243, 30211851, 30403290, 30728346, 30800001, 31318152, 31401268, 31501716, 31551292		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	17989064, 19833888, 21638053, 24947356, 27232339, 30312651, 30938760		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30026275, 30513370, 31321014, 31401268, 31514971		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29805980, 31589290, 31747801		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	28452237		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	27868372, 27913575, 27975209, 27981757, 28102093, 28150516, 28249585, 28294702, 28526416, 28589542, 28721686, 28816532, 28836861, 28855269, 28942790, 29205774, 29272081, 29334278, 29364586, 29364587, 29511288, 29636825, 29796245, 29866735, 29975575, 30148851, 30372907, 30383495, 30610613, 30859500, 30860874, 31176298, 31255662, 31275246, 31317516, 31318152, 31370002, 31402215, 31518433, 31530665, 31564026, 31580737, 31612934, 31654678, 31686781, 31801807		★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	28870812		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29554304, 30465895, 30703547		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	22075645, 28103285, 28365524, 29877881, 31731177		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22726846, 23175442, 29069077		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28057753, 29416845, 37257768	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	Interstitial Nephritis	BEFREE	30277423		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	31121089		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	24577752		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	20518750, 31121089		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31307484		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	27789404		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	31070711		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28366423, 28431667, 28748377, 28924916, 29113708, 29845208, 30058208, 30786725		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	27677385		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28366423, 28432726, 30477733, 30786725		★☆☆☆☆ Found in Text Mining only
Kleefstra Syndrome	Kleefstra syndrome	Pubtator	19264732, 22890305, 23232695, 25307298, 27789404, 27966372, 28057753, 29228531, 29416845, 30063093, 31209758, 35118825, 35139903, 36216811, 37257768, 37729241, 37817104, 38195854, 38485322, 40394668	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kleefstra syndrome	Kleefstra Syndrome	BEFREE	21538692, 21910222, 22890305, 23175442, 23232695, 27651234, 27767173, 27789404, 28057753, 28071689, 28361099, 28361100, 28742076, 29459631, 29554304, 30448833, 31209758, 31666522, 31750954		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kleefstra Syndrome	Kleefstra syndrome	Pubtator	28742076	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kleefstra syndrome	Kleefstra Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	BEFREE	16826528, 19264732, 21538692, 21910222, 22890305, 23175442, 23232695, 27651234, 27767173, 27789404, 28057753, 28071689, 28361099, 28361100, 28742076, 29459631, 29554304, 30448833, 31209758, 31666522, 31750954		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	GENOMICS_ENGLAND_DG	16826528		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	UNIPROT_DG	16826528, 19264732		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	CLINVAR_DG	16826528, 19264732, 22670141, 26633545, 27651234		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	CLINGEN_DG	22670141, 23175442, 24362066, 25081361, 27651234, 27767173, 28361100, 28742076, 29554304		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kleefstra syndrome due to 9q34 microdeletion	Kleefstra Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kleefstra syndrome due to a point mutation	Kleefstra Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	22890305	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26147105		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28301528	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28301528		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	29221794		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28552096, 31177870		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28615290	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34214254	Stimulate	★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21638053, 29045658		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29259012		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28244632, 28249585, 30306620, 31420784		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29844834		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26120834, 29259012, 29844834, 31420784		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	21761282		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	30171481		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30831439		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	22521361		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28777938, 30578967, 30581418		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29539609, 29958403, 30204504, 30836679, 31542859		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28242257, 28249585, 30033664, 30957945, 31436559		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31231210, 31257516		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	29771387		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26078577, 26120834, 26147105, 29877881, 30119208, 30277423		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21681934, 22890305	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28846606, 29129776, 29705602		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34016720, 37894922	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19264732	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	19264732	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26194112, 27113213, 27767173, 28071689, 31209758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	31514971, 31682045		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	21745271, 24264040, 28065744, 28431668, 28552096, 28676027, 28867301, 28918389, 30359962, 30459715, 30578967, 30861258, 30961499, 31418344, 31672448		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30359962		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29548996		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16685426, 21638053, 23019069, 23990519, 25713030, 27405092, 27717222, 28288852, 28365524, 28610922, 28722834, 28733905, 28741970, 28754350, 28772236, 28777938, 28822994, 28918389, 29191090, 29325849, 29364588, 29412833, 29667023, 29861388, 30002304, 30028989, 30296456, 30459715, 30974038, 31124035, 31281892, 31308360, 31355685, 31514971, 31595657, 31665455, 31790314		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28855317, 31321014		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29259012		★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita	BEFREE	8792089		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28244632, 28249585, 30306620, 31420784		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	29335890, 30607480		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	31420784		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28244632, 28526416, 31077072, 31727181		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	22266668		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28666800, 28927992, 28991675, 29402504, 29462693, 29549796, 29705602, 30017231		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	31654678		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30451975		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20082866		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	20082866		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29069077		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28276778, 28432082, 31029778		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	29335890, 30614551		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31300920		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	30565836		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37663929	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30844468		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29548996		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	30836679		★☆☆☆☆ Found in Text Mining only
Reactive hypoglycemia	Reactive hypoglycemia	BEFREE	28432082, 30448278		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	28070733, 29547044, 29756388, 30348145		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29607314		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28748377, 28924916, 29113708, 29449951		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28070733, 29547044, 29756388, 30348145		★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	37894922	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23815974, 28260235, 30187620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	36216811	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	28469580		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29334697		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	27767173, 28071689		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30844468		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	31321014		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal stenosis of lumbar region	Spinal Stenosis Of Lumbar Region	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36444596	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29549796		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28065744, 28870812, 29344336, 30359962		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29844834		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	31260047		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tourette Syndrome	Tourette syndrome	Pubtator	37817104	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17910072, 29160022, 29459631		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	30019398		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	31471633		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only