MEF2C (myocyte enhancer factor 2C)

Gene

• Entrez ID: 4208
• Gene name: Myocyte enhancer factor 2C
• Gene symbol: MEF2C
• Synonyms (NCBI Gene): C5DELq14.3, DEL5q14.3, NEDHSIL
• Chromosome: 5
• Chromosome location: 5q14.3
• Summary: This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607233	G>C	Pathogenic	Coding sequence variant, stop gained
rs397514655	A>G,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397514656	C>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs398123686	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs545185248	A>G,T	Pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs587783747	G>A	Pathogenic	Coding sequence variant, stop gained
rs587783749	A>-	Pathogenic	Coding sequence variant, stop gained, intron variant
rs730882192	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs777826971	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs781632867	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786200981	->C	Pathogenic	Coding sequence variant, frameshift variant
rs796052728	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs796052733	G>A	Pathogenic	Coding sequence variant, stop gained
rs797045053	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs869312698	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs876661308	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1057520584	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057521717	A>C	Likely-pathogenic	Intron variant
rs1064793730	A>G	Pathogenic	Splice donor variant
rs1064797310	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1202957297	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1554102556	T>G	Pathogenic	Splice acceptor variant
rs1554110298	CCTGCACCAGACG>GTGGAGAC	Pathogenic	Coding sequence variant, frameshift variant
rs1554112069	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1554139674	A>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1554139693	C>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1554139723	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554139771	CA>-	Pathogenic	Coding sequence variant, stop gained, inframe indel, genic upstream transcript variant
rs1554139870	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1554150543	CTGT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554150552	->A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1554150590	TT>-,T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554150607	C>G	Pathogenic	Missense variant, initiator codon variant, genic upstream transcript variant
rs1561697465	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1561698356	G>A	Pathogenic	Stop gained, coding sequence variant
rs1561824498	C>A	Pathogenic	Splice acceptor variant
rs1561875779	CACA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1580988074	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1580988138	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1580990072	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1581321362	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1581338441	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1581392920	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000128	hsa-miR-223-3p	Luciferase reporter assay	18278031
MIRT000128	hsa-miR-223-3p	Review	20029422
MIRT005737	hsa-miR-21-5p	Immunofluorescence, In situ hybridization, Luciferase reporter assay	21170291
MIRT005737	hsa-miR-21-5p	Immunofluorescence, In situ hybridization, Luciferase reporter assay	21170291
MIRT000128	hsa-miR-223-3p	Immunofluorescence, qRT-PCR, Western blot	23094093
MIRT029032	hsa-miR-26b-5p	Microarray	19088304
MIRT052262	hsa-let-7b-5p	CLASH	23622248
MIRT051852	hsa-let-7c-5p	CLASH	23622248
MIRT049691	hsa-miR-92a-3p	CLASH	23622248
MIRT628015	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT628014	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT628013	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT628012	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT628011	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT628010	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT628009	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT628008	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT628007	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT731568	hsa-miR-23a-3p	Luciferase reporter assay	26897085
MIRT731568	hsa-miR-23a-3p	Luciferase reporter assay	26897085
MIRT731679	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	27796324
MIRT731679	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	27796324
MIRT736963	hsa-miR-135b-5p	Luciferase reporter assay, qRT-PCR	26184978
MIRT736963	hsa-miR-135b-5p	Luciferase reporter assay, qRT-PCR	26184978
MIRT736963	hsa-miR-135b-5p	CLIP-seq, qRT-PCR	32221048
MIRT737183	hsa-miR-802	RNA-seq, Immunofluorescence, qRT-PCR	31930767
MIRT737184	hsa-miR-194-5p	RNA-seq, Immunofluorescence, qRT-PCR	31930767
MIRT737335	hsa-miR-638	Luciferase reporter assay, Western blotting, Microarray, RNA-seq	32186750
MIRT628015	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT628014	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT628013	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT628012	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT628011	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT628010	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT628009	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT628008	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT628007	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1142147	hsa-miR-1286	CLIP-seq
MIRT1142148	hsa-miR-3169	CLIP-seq
MIRT1142149	hsa-miR-3189-5p	CLIP-seq
MIRT1142150	hsa-miR-4436a	CLIP-seq
MIRT1142151	hsa-miR-452	CLIP-seq
MIRT1142152	hsa-miR-455-5p	CLIP-seq
MIRT1142153	hsa-miR-4676-3p	CLIP-seq
MIRT1142154	hsa-miR-4700-3p	CLIP-seq
MIRT1142155	hsa-miR-4722-5p	CLIP-seq
MIRT1142156	hsa-miR-4758-3p	CLIP-seq
MIRT1142157	hsa-miR-5095	CLIP-seq
MIRT1142158	hsa-miR-659	CLIP-seq
MIRT1142159	hsa-miR-2053	CLIP-seq
MIRT1142160	hsa-miR-27a	CLIP-seq
MIRT1142161	hsa-miR-27b	CLIP-seq
MIRT1142162	hsa-miR-3609	CLIP-seq
MIRT1142163	hsa-miR-3659	CLIP-seq
MIRT1142164	hsa-miR-4445	CLIP-seq
MIRT1142165	hsa-miR-4495	CLIP-seq
MIRT1142166	hsa-miR-4658	CLIP-seq
MIRT1142167	hsa-miR-4659a-3p	CLIP-seq
MIRT1142168	hsa-miR-4659b-3p	CLIP-seq
MIRT1142169	hsa-miR-4666-5p	CLIP-seq
MIRT1142170	hsa-miR-4699-3p	CLIP-seq
MIRT1142171	hsa-miR-4731-3p	CLIP-seq
MIRT1142172	hsa-miR-4775	CLIP-seq
MIRT1142173	hsa-miR-4778-3p	CLIP-seq
MIRT1142174	hsa-miR-4796-5p	CLIP-seq
MIRT1142175	hsa-miR-4801	CLIP-seq
MIRT1142176	hsa-miR-513a-5p	CLIP-seq
MIRT1142177	hsa-miR-548ah	CLIP-seq
MIRT1142178	hsa-miR-569	CLIP-seq
MIRT1142179	hsa-miR-574-5p	CLIP-seq
MIRT1142180	hsa-let-7a	CLIP-seq
MIRT1142181	hsa-let-7b	CLIP-seq
MIRT1142182	hsa-let-7c	CLIP-seq
MIRT1142183	hsa-let-7d	CLIP-seq
MIRT1142184	hsa-let-7e	CLIP-seq
MIRT1142185	hsa-let-7f	CLIP-seq
MIRT1142186	hsa-let-7g	CLIP-seq
MIRT1142187	hsa-let-7i	CLIP-seq
MIRT1142188	hsa-miR-1283	CLIP-seq
MIRT1142189	hsa-miR-1323	CLIP-seq
MIRT1142190	hsa-miR-186	CLIP-seq
MIRT1142191	hsa-miR-200b	CLIP-seq
MIRT1142192	hsa-miR-200c	CLIP-seq
MIRT1142193	hsa-miR-202	CLIP-seq
MIRT1142194	hsa-miR-3133	CLIP-seq
MIRT1142195	hsa-miR-3613-3p	CLIP-seq
MIRT1142196	hsa-miR-3646	CLIP-seq
MIRT1142197	hsa-miR-369-3p	CLIP-seq
MIRT1142198	hsa-miR-380	CLIP-seq
MIRT1142199	hsa-miR-3924	CLIP-seq
MIRT1142200	hsa-miR-429	CLIP-seq
MIRT1142201	hsa-miR-4458	CLIP-seq
MIRT1142165	hsa-miR-4495	CLIP-seq
MIRT1142202	hsa-miR-4500	CLIP-seq
MIRT1142203	hsa-miR-4511	CLIP-seq
MIRT1142204	hsa-miR-4643	CLIP-seq
MIRT1142205	hsa-miR-466	CLIP-seq
MIRT1142206	hsa-miR-4680-3p	CLIP-seq
MIRT1142207	hsa-miR-4789-3p	CLIP-seq
MIRT1142208	hsa-miR-520d-5p	CLIP-seq
MIRT1142209	hsa-miR-524-5p	CLIP-seq
MIRT1142210	hsa-miR-548g	CLIP-seq
MIRT1142211	hsa-miR-548o	CLIP-seq
MIRT1142212	hsa-miR-607	CLIP-seq
MIRT1142213	hsa-miR-98	CLIP-seq
MIRT2040365	hsa-miR-4633-5p	CLIP-seq
MIRT1142158	hsa-miR-659	CLIP-seq
MIRT1142148	hsa-miR-3169	CLIP-seq
MIRT1142154	hsa-miR-4700-3p	CLIP-seq
MIRT1142157	hsa-miR-5095	CLIP-seq
MIRT1142158	hsa-miR-659	CLIP-seq
MIRT2569267	hsa-miR-1237	CLIP-seq
MIRT2569268	hsa-miR-1248	CLIP-seq
MIRT2569269	hsa-miR-1267	CLIP-seq
MIRT2569270	hsa-miR-132	CLIP-seq
MIRT2569271	hsa-miR-137	CLIP-seq
MIRT2569272	hsa-miR-188-5p	CLIP-seq
MIRT2569273	hsa-miR-1910	CLIP-seq
MIRT2569274	hsa-miR-194	CLIP-seq
MIRT2569275	hsa-miR-204	CLIP-seq
MIRT2569276	hsa-miR-21	CLIP-seq
MIRT2569277	hsa-miR-211	CLIP-seq
MIRT2569278	hsa-miR-2115	CLIP-seq
MIRT2569279	hsa-miR-212	CLIP-seq
MIRT2569280	hsa-miR-219-5p	CLIP-seq
MIRT2569281	hsa-miR-223	CLIP-seq
MIRT2569282	hsa-miR-302a	CLIP-seq
MIRT2569283	hsa-miR-302b	CLIP-seq
MIRT2569284	hsa-miR-302c	CLIP-seq
MIRT2569285	hsa-miR-302d	CLIP-seq
MIRT2569286	hsa-miR-302e	CLIP-seq
MIRT2569287	hsa-miR-3117-5p	CLIP-seq
MIRT2569288	hsa-miR-3156-5p	CLIP-seq
MIRT2569289	hsa-miR-329	CLIP-seq
MIRT2569290	hsa-miR-330-3p	CLIP-seq
MIRT2569291	hsa-miR-337-3p	CLIP-seq
MIRT2569292	hsa-miR-338-3p	CLIP-seq
MIRT2569293	hsa-miR-3613-5p	CLIP-seq
MIRT2569294	hsa-miR-3614-3p	CLIP-seq
MIRT2569295	hsa-miR-362-3p	CLIP-seq
MIRT2569296	hsa-miR-3655	CLIP-seq
MIRT2569297	hsa-miR-372	CLIP-seq
MIRT2569298	hsa-miR-373	CLIP-seq
MIRT2569299	hsa-miR-421	CLIP-seq
MIRT2569300	hsa-miR-4255	CLIP-seq
MIRT2569301	hsa-miR-4310	CLIP-seq
MIRT1142164	hsa-miR-4445	CLIP-seq
MIRT2569302	hsa-miR-450b-5p	CLIP-seq
MIRT2569303	hsa-miR-4530	CLIP-seq
MIRT2569304	hsa-miR-4639-5p	CLIP-seq
MIRT2569305	hsa-miR-4652-3p	CLIP-seq
MIRT2569306	hsa-miR-4668-3p	CLIP-seq
MIRT2569307	hsa-miR-4670-3p	CLIP-seq
MIRT2569308	hsa-miR-4709-5p	CLIP-seq
MIRT2569309	hsa-miR-4782-3p	CLIP-seq
MIRT2569310	hsa-miR-4803	CLIP-seq
MIRT2569311	hsa-miR-507	CLIP-seq
MIRT2569312	hsa-miR-516a-3p	CLIP-seq
MIRT2569313	hsa-miR-518a-5p	CLIP-seq
MIRT2569314	hsa-miR-520a-3p	CLIP-seq
MIRT2569315	hsa-miR-520b	CLIP-seq
MIRT2569316	hsa-miR-520c-3p	CLIP-seq
MIRT2569317	hsa-miR-520d-3p	CLIP-seq
MIRT2569318	hsa-miR-520e	CLIP-seq
MIRT2569319	hsa-miR-527	CLIP-seq
MIRT2569320	hsa-miR-548ac	CLIP-seq
MIRT2569321	hsa-miR-548ae	CLIP-seq
MIRT2569322	hsa-miR-548aj	CLIP-seq
MIRT2569323	hsa-miR-548am	CLIP-seq
MIRT2569324	hsa-miR-548d-3p	CLIP-seq
MIRT2569325	hsa-miR-548x	CLIP-seq
MIRT2569326	hsa-miR-548z	CLIP-seq
MIRT2569327	hsa-miR-557	CLIP-seq
MIRT2569328	hsa-miR-578	CLIP-seq
MIRT2569329	hsa-miR-590-5p	CLIP-seq
MIRT2569330	hsa-miR-628-5p	CLIP-seq
MIRT2569331	hsa-miR-642b	CLIP-seq
MIRT2569332	hsa-miR-935	CLIP-seq
MIRT2569308	hsa-miR-4709-5p	CLIP-seq
MIRT2684809	hsa-miR-1245b-3p	CLIP-seq
MIRT2569269	hsa-miR-1267	CLIP-seq
MIRT2684810	hsa-miR-1297	CLIP-seq
MIRT2569270	hsa-miR-132	CLIP-seq
MIRT2569271	hsa-miR-137	CLIP-seq
MIRT2684811	hsa-miR-146a	CLIP-seq
MIRT2684812	hsa-miR-146b-5p	CLIP-seq
MIRT2569272	hsa-miR-188-5p	CLIP-seq
MIRT2569273	hsa-miR-1910	CLIP-seq
MIRT2569274	hsa-miR-194	CLIP-seq
MIRT2569275	hsa-miR-204	CLIP-seq
MIRT2569276	hsa-miR-21	CLIP-seq
MIRT2569277	hsa-miR-211	CLIP-seq
MIRT2569278	hsa-miR-2115	CLIP-seq
MIRT2569279	hsa-miR-212	CLIP-seq
MIRT2569280	hsa-miR-219-5p	CLIP-seq
MIRT2569281	hsa-miR-223	CLIP-seq
MIRT2684813	hsa-miR-26a	CLIP-seq
MIRT2684814	hsa-miR-26b	CLIP-seq
MIRT2569282	hsa-miR-302a	CLIP-seq
MIRT2569283	hsa-miR-302b	CLIP-seq
MIRT2569284	hsa-miR-302c	CLIP-seq
MIRT2569285	hsa-miR-302d	CLIP-seq
MIRT2569286	hsa-miR-302e	CLIP-seq
MIRT2569287	hsa-miR-3117-5p	CLIP-seq
MIRT2569289	hsa-miR-329	CLIP-seq
MIRT2569290	hsa-miR-330-3p	CLIP-seq
MIRT2569291	hsa-miR-337-3p	CLIP-seq
MIRT2569293	hsa-miR-3613-5p	CLIP-seq
MIRT2569294	hsa-miR-3614-3p	CLIP-seq
MIRT2569295	hsa-miR-362-3p	CLIP-seq
MIRT2569297	hsa-miR-372	CLIP-seq
MIRT2569298	hsa-miR-373	CLIP-seq
MIRT2569299	hsa-miR-421	CLIP-seq
MIRT2569300	hsa-miR-4255	CLIP-seq
MIRT2569301	hsa-miR-4310	CLIP-seq
MIRT2684815	hsa-miR-4423-3p	CLIP-seq
MIRT1142164	hsa-miR-4445	CLIP-seq
MIRT2684816	hsa-miR-4461	CLIP-seq
MIRT2684817	hsa-miR-4465	CLIP-seq
MIRT2569302	hsa-miR-450b-5p	CLIP-seq
MIRT2569304	hsa-miR-4639-5p	CLIP-seq
MIRT2569305	hsa-miR-4652-3p	CLIP-seq
MIRT2684818	hsa-miR-4659a-5p	CLIP-seq
MIRT2684819	hsa-miR-4659b-5p	CLIP-seq
MIRT2569306	hsa-miR-4668-3p	CLIP-seq
MIRT2569307	hsa-miR-4670-3p	CLIP-seq
MIRT2569308	hsa-miR-4709-5p	CLIP-seq
MIRT2684820	hsa-miR-4719	CLIP-seq
MIRT2684821	hsa-miR-4773	CLIP-seq
MIRT2569309	hsa-miR-4782-3p	CLIP-seq
MIRT2569310	hsa-miR-4803	CLIP-seq
MIRT2569311	hsa-miR-507	CLIP-seq
MIRT2569312	hsa-miR-516a-3p	CLIP-seq
MIRT2569313	hsa-miR-518a-5p	CLIP-seq
MIRT2569314	hsa-miR-520a-3p	CLIP-seq
MIRT2569315	hsa-miR-520b	CLIP-seq
MIRT2569316	hsa-miR-520c-3p	CLIP-seq
MIRT2569317	hsa-miR-520d-3p	CLIP-seq
MIRT2569318	hsa-miR-520e	CLIP-seq
MIRT2569319	hsa-miR-527	CLIP-seq
MIRT2569320	hsa-miR-548ac	CLIP-seq
MIRT2569321	hsa-miR-548ae	CLIP-seq
MIRT2569322	hsa-miR-548aj	CLIP-seq
MIRT2569323	hsa-miR-548am	CLIP-seq
MIRT2569324	hsa-miR-548d-3p	CLIP-seq
MIRT2569325	hsa-miR-548x	CLIP-seq
MIRT2569326	hsa-miR-548z	CLIP-seq
MIRT2569327	hsa-miR-557	CLIP-seq
MIRT2684822	hsa-miR-589	CLIP-seq
MIRT2569329	hsa-miR-590-5p	CLIP-seq
MIRT2569330	hsa-miR-628-5p	CLIP-seq
MIRT2569331	hsa-miR-642b	CLIP-seq
MIRT2569332	hsa-miR-935	CLIP-seq
MIRT2569308	hsa-miR-4709-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GFI1B	Repression	21261500
HDAC7	Repression	11585834
HIPK2	Repression	23620283
ISL1	Activation	23152444
NKX2-5	Repression	21261500

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18079734
GO:0000165	Process	MAPK cascade	IDA	9858528
GO:0000165	Process	MAPK cascade	IMP	11160896
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	8455629
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	8455629
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	21610032
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	15486975
GO:0001568	Process	Blood vessel development	ISS
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0001764	Process	Neuron migration	ISS
GO:0001782	Process	B cell homeostasis	ISS
GO:0001947	Process	Heart looping	ISS
GO:0001958	Process	Endochondral ossification	ISS
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0002467	Process	Germinal center formation	ISS
GO:0002634	Process	Regulation of germinal center formation	ISS
GO:0002931	Process	Response to ischemia	ISS
GO:0003138	Process	Primary heart field specification	ISS
GO:0003139	Process	Secondary heart field specification	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003185	Process	Sinoatrial valve morphogenesis	ISS
GO:0003211	Process	Cardiac ventricle formation	ISS
GO:0003677	Function	DNA binding	IDA	11744164
GO:0003677	Function	DNA binding	IEA
GO:0003680	Function	Minor groove of adenine-thymine-rich DNA binding	IDA	15486975
GO:0003700	Function	DNA-binding transcription factor activity	IDA	16043483
GO:0005515	Function	Protein binding	IPI	15486975, 16510869, 18588859, 20211142, 20936779, 21556048, 23752268, 31988313, 32296183, 37207277
GO:0005634	Component	Nucleus	IDA	8455629, 9770491, 11744164, 16510869, 21170291, 24008018
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	8455629
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	24008018
GO:0006915	Process	Apoptotic process	IEA
GO:0006959	Process	Humoral immune response	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8455629
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEP	10458488
GO:0007507	Process	Heart development	ISS
GO:0007507	Process	Heart development	NAS	15486975
GO:0007517	Process	Muscle organ development	TAS	8455629
GO:0007519	Process	Skeletal muscle tissue development	ISS
GO:0007521	Process	Muscle cell fate determination	ISS
GO:0007611	Process	Learning or memory	ISS
GO:0010628	Process	Positive regulation of gene expression	IDA	9857019, 21556048
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0014033	Process	Neural crest cell differentiation	ISS	21610032
GO:0014902	Process	Myotube differentiation	IEP	8455629
GO:0016528	Component	Sarcoplasm	IEA
GO:0016607	Component	Nuclear speck	IDA	18079734
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEP	8455629
GO:0030182	Process	Neuron differentiation	ISS
GO:0030220	Process	Platelet formation	ISS
GO:0030279	Process	Negative regulation of ossification	IDA	17696759
GO:0030318	Process	Melanocyte differentiation	ISS	21610032
GO:0030501	Process	Positive regulation of bone mineralization	ISS
GO:0030890	Process	Positive regulation of B cell proliferation	ISS
GO:0032991	Component	Protein-containing complex	IDA	15486975
GO:0035984	Process	Cellular response to trichostatin A	ISS
GO:0042100	Process	B cell proliferation	ISS
GO:0042826	Function	Histone deacetylase binding	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0043523	Process	Regulation of neuron apoptotic process	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IGI	26184978
GO:0045652	Process	Regulation of megakaryocyte differentiation	ISS
GO:0045663	Process	Positive regulation of myoblast differentiation	IMP	9770491
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045669	Process	Positive regulation of osteoblast differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11744164, 17696759
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	8455629, 15486975, 16043483
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11160896, 21556048
GO:0046928	Process	Regulation of neurotransmitter secretion	ISS
GO:0046982	Function	Protein heterodimerization activity	IPI	9858528
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048643	Process	Positive regulation of skeletal muscle tissue development	IMP	9770491
GO:0048666	Process	Neuron development	ISS
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	ISS
GO:0050853	Process	B cell receptor signaling pathway	ISS
GO:0051145	Process	Smooth muscle cell differentiation	ISS
GO:0051963	Process	Regulation of synapse assembly	ISS
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0055012	Process	Ventricular cardiac muscle cell differentiation	ISS
GO:0060025	Process	Regulation of synaptic activity	ISS
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060998	Process	Regulation of dendritic spine development	ISS
GO:0061333	Process	Renal tubule morphogenesis	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	16043483
GO:0071222	Process	Cellular response to lipopolysaccharide	ISS
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071374	Process	Cellular response to parathyroid hormone stimulus	IDA	17696759
GO:0071466	Process	Cellular response to xenobiotic stimulus	ISS
GO:0071498	Process	Cellular response to fluid shear stress	ISS
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	9770491
GO:0072102	Process	Glomerulus morphogenesis	ISS
GO:0072160	Process	Nephron tubule epithelial cell differentiation	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098989	Process	NMDA selective glutamate receptor signaling pathway	ISS
GO:0098990	Process	AMPA selective glutamate receptor signaling pathway	ISS
GO:0140297	Function	DNA-binding transcription factor binding	IPI	11160896
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IDA	28799067
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IGI	26184978
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IDA	28799067
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IGI	26184978
GO:1905563	Process	Negative regulation of vascular endothelial cell proliferation	IGI	26184978
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000111	Process	Positive regulation of macrophage apoptotic process	ISS
GO:2000727	Process	Positive regulation of cardiac muscle cell differentiation	IDA	9857019
GO:2000987	Process	Positive regulation of behavioral fear response	ISS
GO:2001013	Process	Epithelial cell proliferation involved in renal tubule morphogenesis	ISS
GO:2001016	Process	Positive regulation of skeletal muscle cell differentiation	IDA	21556048

Other IDs

• MIM: 600662
• HGNC: 6996
• e!Ensembl: ENSG00000081189

Protein

• UniProt ID: Q06413
• Protein name: Myocyte-specific enhancer factor 2C (Myocyte enhancer factor 2C)
• Protein function: Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcrip
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00319	SRF-TF	10 → 57	SRF-type transcription factor (DNA-binding and dimerisation domain)	Domain
  PF12347	HJURP_C	90 → 155	Holliday junction regulator protein family C-terminal repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain and skeletal muscle. {ECO:0000269|PubMed:9798649}.
• Sequence:

  MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYAST
  DMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKI
  NEDIDLMISRQRLCAVPPPNFEMPVSIPVSSHNSLVYSNPVSSLGNPNLLPLAHPSLQRN
  SMSPGVTHRPPSAGNTGGLMGGDLTSGAGTSAGNGYGNPRNSPGLLVSPGNLNKNMQAKS
  PPPMNLGMNNRKPDLRVLIPPGSKNTMPSVSEDVDLLLNQRINNSQSAQSLATPVVSVAT
  PTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGWQQQHLHNMPP
  SALSQLGACTSTHLSQSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSP
  VDSLSSCSSSYDGSDREDHRNEFHSPIGLTRPSPDERESPSVKRMRLSEGWAT

• Sequence length: 473

Pathways

KEGG:

MAPK signaling pathway
cGMP-PKG signaling pathway
Apelin signaling pathway
Oxytocin signaling pathway
Parathyroid hormone synthesis, secretion and action
Transcriptional misregulation in cancer
Fluid shear stress and atherosclerosis

Reactome:

Transcriptional activation of mitochondrial biogenesis
Circadian Clock
Myogenesis

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
5q14.3 microdeletion syndrome	Pathogenic	rs796052733	RCV001813767	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic; Likely pathogenic	rs796052733, rs796052728, rs2548168565, rs1561824498	RCV000754665 RCV001291376 RCV003127257 RCV000754666	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant epilepsy	Likely pathogenic	rs2546717151	RCV003156205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1580990072	RCV001003588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia	Likely pathogenic	rs1085307051	RCV000490370	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs796052733, rs1759968705, rs1227804681, rs1761749684	RCV001257689 RCV005626346 RCV001257690 RCV001257691	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MEF2C Haploinsufficiency Syndrome	Pathogenic	rs2532814429	RCV003335912	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MEF2C-related disorder	Likely pathogenic; Pathogenic	rs587783747, rs1554150543	RCV004734705 RCV000509200	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs2153222958, rs1554150552	RCV001779254 RCV001374908	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Likely pathogenic; Pathogenic	rs2152281284, rs2152497250, rs2153074319, rs2152524628, rs2153222922, rs2153222958, rs2153074000, rs758320958, rs1350600010, rs1358670337, rs2153073717, rs2153074771, rs2152669802, rs1202957297, rs587783749, rs587783747, rs2546975516, rs1581338441, rs2546971435, rs2531289348, rs796052733, rs1554139682, rs796052728, rs797045053, rs2547869345, rs2547089089, rs2546948756, rs545185248, rs876661308, rs2546973912, rs869312698, rs267607233, rs2153074738, rs2532813819, rs2531288616, rs2531288112, rs2531279048, rs2531275882, rs2548164806, rs2531278356, rs2531283403, rs1561824498, rs1554139674, rs2547078813, rs1581392920, rs1554150543, rs1554102556, rs397514655, rs2153074822, rs397514656, rs730882192, rs1554150552, rs1432291994, rs1561697465, rs1561875779, rs1580988138, rs1580988074, rs1759964009, rs1759968705, rs1064797310, rs1772953161, rs1554139743	RCV001377142 RCV001379879 RCV001376765 RCV001382959 RCV001533145 RCV001685531 RCV001684642 RCV001684643 RCV001684644 RCV001775257 RCV001775320 RCV001805750 RCV001809028 RCV002249102 RCV002250111 RCV000146367 RCV000146362 RCV002283626 RCV002471551 RCV002472152 RCV003093183 RCV001852474 RCV002472269 RCV002514022 RCV002796410 RCV000191104 RCV002810981 RCV002795981 RCV002842247 RCV000192846 RCV000223956 RCV003015781 RCV000209864 RCV000009503 RCV003149131 RCV003149149 RCV003232883 RCV003313340 RCV003314126 RCV003314214 RCV003314521 RCV003444481 RCV003509833 RCV003509260 RCV003509471 RCV003510016 RCV003885430 RCV001071342 RCV000578456 RCV000033229 RCV000033230 RCV000033231 RCV000033232 RCV003139948 RCV003619715 RCV000691389 RCV000691890 RCV003619718 RCV000820312 RCV000791953 RCV001027718 RCV001059842 RCV001196578 RCV001217453 RCV001253802 RCV001253221	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ABNORMALITIES-SEVERE DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME DUE TO MEF2C MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT WITHOUT VENTRICULAR HYPOPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
intellectual deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEF2C-related complex neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q14.3 microdeletion syndrome	5q14.3 microdeletion syndrome	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
5q14.3 microdeletion syndrome	5q14.3 microdeletion syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	26172269		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	29431698		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31094920		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	22848023		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25114068, 25723573, 28199971, 34103633, 34767070, 35563596	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	29112298	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	27276684		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	21715356		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	26921792		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	27825100		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	24058414		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	31375103	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	19359597		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26184978		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26184978		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	26184978	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	29413154, 36774336	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	29325848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auriculocondylar syndrome 1	Auriculocondylar Syndrome	BEFREE	28456137		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28533427, 30763456, 39259737	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	20412115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29133852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	30763456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	19131610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	29133852, 30276662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	30376817	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	20412115, 29942082		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	22363514	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21939504, 33673112, 36128051	Associate	★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	BEFREE	21626678		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36064442	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	16469744		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	25338953	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies, Primary	Cardiomyopathy	BEFREE	28902616		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28902616		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25352737		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	25352737	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	26487643		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	30922778		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	21901155		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28199971, 29112298, 30376817	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21352556		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32221048, 34950443, 36074971	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36064442	Inhibit	★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	18949272		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	23824879		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	26811383, 29104469		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	26811383		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	21626678		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12135937		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	22498567, 29104469, 29468350		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	21170291		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30376817, 39259737	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18067759		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	27825100	Inhibit	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	29025761	Inhibit	★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	26811383, 29468350		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	29104469	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	23389741, 27255693		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	17959722, 18579729, 19471318, 19592390, 20513142, 22495311, 22498567, 22670137, 23389741, 27255693		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	20333642		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	28614716		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28456137		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	19592390, 27966542, 30376817, 30763456, 33831796	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	CTD_human_DG	20412115, 29942082		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	BEFREE	23001426, 23389741, 27255693, 28993242, 29133852, 29266188, 30922778		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	20412115, 29942082		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	21990267		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial aplasia of the vermis	Cerebellar vermis agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	30560247		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	30560247		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	21567930, 30922778		★☆☆☆☆ Found in Text Mining only
FEBRILE CONVULSIONS, FAMILIAL, 4	Febrile seizures	BEFREE	21567930		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	30560247		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma	Glioma	BEFREE	29501773		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29631562	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20333642, 23402836, 25691421		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	31738005	Associate	★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	18949272		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	29104469	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	23342164	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12135937		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	22363514	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	29104469	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	36181115	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	19107131		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	25763715		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22718505		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22718505		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	26428636	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	32597152	Inhibit	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27005436, 29112298		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	22848023		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19592390, 24058414, 24253858, 30376817, 31375103, 33831796	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	20412115		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	21626678, 23389741, 23402836, 29266188, 30276662, 30376817, 31375103		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	21715356		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19584403, 23435431, 25858143, 30026272		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22581002, 26487643, 35301220, 35528167, 35709529	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23435431, 26487643, 29320732, 29431698, 29526696, 31697837		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	23975177		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17611778, 25328135		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17611778		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37236507	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30006604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29714661, 30703870, 31167905, 31186776		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	20412115		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28699694		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	23001426, 28456137, 31375103		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21626678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20	Mental retardation	GENOMICS_ENGLAND_DG	19592390, 24896178		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20	Mental retardation	CLINVAR_DG	19592390, 19876902, 20513142, 23001426, 26633545, 27255693		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	BEFREE	20333642		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24290359	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	17959722, 18579729, 19471318, 19592390, 20513142, 22495311, 22498567, 22670137, 23389741, 27255693		★☆☆☆☆ Found in Text Mining only
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	BEFREE	24058414		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	17959722, 18579729, 19471318, 19592390, 20513142, 22495311, 22498567, 22670137, 23389741, 27255693		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	15961513		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	27297623		★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	19584403		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31541743		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	21567930, 29266188		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	21104860		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	21104860	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25328135, 29322514		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21170291		★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	26774077		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	23389741, 27255693, 29513653, 30376817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	21104860		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	21104860	Associate	★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	18949272		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	29631562	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	25132170	Associate	★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	BEFREE	26811383		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40281485	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21901155, 24290359		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24290359	Associate	★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	18949272		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	26172269		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	18079734, 21261500, 21481790, 23435431, 23975177, 26172269, 28482719		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	21170291		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	20412115		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15805119, 36128051	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	27144530	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25369292	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	22521302		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	22383159, 29322350, 30376817		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	29322350, 30376817, 30445463	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome, Atypical	Rett Syndrome	BEFREE	20513142		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	25404735		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28115742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29032150, 39259737	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	19592390	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	19592390, 20333642, 20513142, 21990267, 23001426, 23824879, 25691421, 27255693		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG	19592390, 19876902, 20513142, 23001426		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	31751569		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	27255693		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	18949272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	18949272		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36661663	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	26774077		★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	29025761	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	32597152	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37762600	Associate	★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	28346476		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32420368, 33184436	Associate	★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	21567930		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	36639926	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	29468350		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	22848023		★☆☆☆☆ Found in Text Mining only