SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4)

Gene

• Entrez ID: 6597
• Gene name: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
• Gene symbol: SMARCA4
• Synonyms (NCBI Gene): BAF190, BAF190A, BRG1, CSS4, MRD16, OTSC12, RTPS2, SNF2, SNF2-beta, SNF2L4, SNF2LB, SWI2, hSNF2b
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by alt

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115992445	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs117611401	C>A,G,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs141259126	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs141806282	T>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs145867502	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs182644267	G>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs199847974	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs267607070	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs281875226	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs281875227	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281875228	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs281875229	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs281875230	C>G	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs372319442	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs372410282	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs376775933	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs573885719	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs587777460	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587777461	G>A	Pathogenic	Splice donor variant
rs587777462	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587777463	C>A,G,T	Uncertain-significance, pathogenic	Intron variant
rs587777464	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587779750	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs758517117	C>A,T	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs770014321	C>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs770680174	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs780424104	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797044856	G>C	Likely-pathogenic	Splice donor variant
rs797045980	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045982	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045984	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs797045987	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs869312964	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876657378	AAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs878854224	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs898406635	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs972341316	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1057518049	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1057521113	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057524208	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057524559	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1060499936	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1060502085	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060502086	G>C,T	Likely-pathogenic, uncertain-significance	Splice donor variant, intron variant
rs1060502088	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1060502102	G>A	Likely-pathogenic	Splice acceptor variant
rs1064794284	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064794535	AGTACT>GGC	Likely-pathogenic	Coding sequence variant, inframe indel, non coding transcript variant
rs1064795105	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064795161	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064796254	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1064796885	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1085307556	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1085307769	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1131691371	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1295192121	C>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs1342399494	AGAA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1469271544	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1475054297	T>A,C	Likely-pathogenic	Splice donor variant
rs1489795776	T>A,C	Pathogenic	Splice donor variant
rs1555754177	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555754293	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555755067	CCGCA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555756326	TGA>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1555757738	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555763642	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs1555763780	AAAA>-,A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, inframe deletion
rs1555771571	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555773269	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555774631	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555774702	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555774786	G>A	Likely-pathogenic	Splice donor variant
rs1555778709	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555778812	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555778828	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555784468	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555784586	G>A,C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555785054	G>A	Likely-pathogenic	Splice donor variant
rs1555785056	T>C	Likely-pathogenic	Splice donor variant
rs1555787120	GG>C	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555795091	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555795884	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568419675	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568422286	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568430280	A>C	Likely-pathogenic	Splice acceptor variant
rs1568455217	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568462513	A>G	Likely-pathogenic	Splice acceptor variant
rs1568486679	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568498107	G>T	Likely-pathogenic	Splice acceptor variant
rs1599941421	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1599942345	T>G	Likely-pathogenic	Splice donor variant
rs1600068013	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600082188	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600278307	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600300837	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600301361	G>T	Likely-pathogenic	Splice donor variant
rs1600335765	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600365455	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600388982	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600389034	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600394246	G>C	Likely-pathogenic	Intron variant, splice donor variant
rs1600407324	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600644179	TGACAGTGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600644640	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006516	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21317927
MIRT006516	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21317927
MIRT006516	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21317927
MIRT006516	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21317927
MIRT020993	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT025405	hsa-miR-34a-5p	Proteomics	21566225
MIRT025405	hsa-miR-34a-5p	Proteomics	21566225
MIRT025405	hsa-miR-34a-5p	Proteomics	21566225
MIRT027823	hsa-miR-98-5p	Microarray	19088304
MIRT032484	hsa-let-7b-5p	Proteomics	18668040
MIRT032484	hsa-let-7b-5p	CLASH	23622248
MIRT051309	hsa-miR-16-5p	CLASH	23622248
MIRT046781	hsa-miR-222-3p	CLASH	23622248
MIRT039649	hsa-miR-615-3p	CLASH	23622248
MIRT039649	hsa-miR-615-3p	CLASH	23622248
MIRT039649	hsa-miR-615-3p	CLASH	23622248
MIRT038217	hsa-miR-342-5p	CLASH	23622248
MIRT020993	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT020993	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT731821	hsa-miR-139-5p	Northern blot, qRT-PCR, Western blot	27605510
MIRT731821	hsa-miR-139-5p	Northern blot, qRT-PCR, Western blot	27605510
MIRT020993	hsa-miR-155-5p	qRT-PCR, Western blot	28251496
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT1371448	hsa-miR-1299	CLIP-seq
MIRT1371449	hsa-miR-3145-5p	CLIP-seq
MIRT1371450	hsa-miR-3184	CLIP-seq
MIRT1371451	hsa-miR-3691-3p	CLIP-seq
MIRT1371452	hsa-miR-423-5p	CLIP-seq
MIRT1371453	hsa-miR-4283	CLIP-seq
MIRT1371454	hsa-miR-4639-5p	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371457	hsa-miR-4753-5p	CLIP-seq
MIRT1371458	hsa-miR-4766-5p	CLIP-seq
MIRT1371459	hsa-miR-508-5p	CLIP-seq
MIRT1371460	hsa-miR-875-3p	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT2110191	hsa-miR-101	CLIP-seq
MIRT2110192	hsa-miR-1825	CLIP-seq
MIRT2110193	hsa-miR-184	CLIP-seq
MIRT2110194	hsa-miR-199a-5p	CLIP-seq
MIRT2110195	hsa-miR-199b-5p	CLIP-seq
MIRT2110196	hsa-miR-208a	CLIP-seq
MIRT2110197	hsa-miR-208b	CLIP-seq
MIRT2110198	hsa-miR-296-5p	CLIP-seq
MIRT2110199	hsa-miR-3117-5p	CLIP-seq
MIRT2110200	hsa-miR-3163	CLIP-seq
MIRT2110201	hsa-miR-323b-3p	CLIP-seq
MIRT2110202	hsa-miR-3617	CLIP-seq
MIRT2110203	hsa-miR-3661	CLIP-seq
MIRT2110204	hsa-miR-3913-3p	CLIP-seq
MIRT2110205	hsa-miR-4256	CLIP-seq
MIRT2110206	hsa-miR-4266	CLIP-seq
MIRT2110207	hsa-miR-4285	CLIP-seq
MIRT2110208	hsa-miR-4695-5p	CLIP-seq
MIRT2110209	hsa-miR-4707-5p	CLIP-seq
MIRT2110210	hsa-miR-4779	CLIP-seq
MIRT2110211	hsa-miR-4804-5p	CLIP-seq
MIRT2110212	hsa-miR-489	CLIP-seq
MIRT2110213	hsa-miR-499-5p	CLIP-seq
MIRT2110214	hsa-miR-514	CLIP-seq
MIRT2110215	hsa-miR-514b-3p	CLIP-seq
MIRT2110216	hsa-miR-631	CLIP-seq
MIRT2110217	hsa-miR-641	CLIP-seq
MIRT2110218	hsa-miR-765	CLIP-seq
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT2110191	hsa-miR-101	CLIP-seq
MIRT2333770	hsa-miR-1202	CLIP-seq
MIRT2333771	hsa-miR-1278	CLIP-seq
MIRT2333772	hsa-miR-132	CLIP-seq
MIRT2110192	hsa-miR-1825	CLIP-seq
MIRT2333773	hsa-miR-191	CLIP-seq
MIRT2333774	hsa-miR-1910	CLIP-seq
MIRT2110194	hsa-miR-199a-5p	CLIP-seq
MIRT2110195	hsa-miR-199b-5p	CLIP-seq
MIRT2333775	hsa-miR-212	CLIP-seq
MIRT2110198	hsa-miR-296-5p	CLIP-seq
MIRT2110199	hsa-miR-3117-5p	CLIP-seq
MIRT1371449	hsa-miR-3145-5p	CLIP-seq
MIRT2110200	hsa-miR-3163	CLIP-seq
MIRT2333776	hsa-miR-3194-5p	CLIP-seq
MIRT2110201	hsa-miR-323b-3p	CLIP-seq
MIRT2110203	hsa-miR-3661	CLIP-seq
MIRT2333777	hsa-miR-3688-3p	CLIP-seq
MIRT1371451	hsa-miR-3691-3p	CLIP-seq
MIRT2110204	hsa-miR-3913-3p	CLIP-seq
MIRT2333778	hsa-miR-3960	CLIP-seq
MIRT2333779	hsa-miR-3972	CLIP-seq
MIRT2110205	hsa-miR-4256	CLIP-seq
MIRT2110207	hsa-miR-4285	CLIP-seq
MIRT2333780	hsa-miR-4328	CLIP-seq
MIRT2333781	hsa-miR-452	CLIP-seq
MIRT1371454	hsa-miR-4639-5p	CLIP-seq
MIRT2333782	hsa-miR-4676-3p	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT2333783	hsa-miR-4693-5p	CLIP-seq
MIRT2333784	hsa-miR-4699-5p	CLIP-seq
MIRT2110209	hsa-miR-4707-5p	CLIP-seq
MIRT2333785	hsa-miR-4709-5p	CLIP-seq
MIRT2333786	hsa-miR-4718	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371457	hsa-miR-4753-5p	CLIP-seq
MIRT2333787	hsa-miR-4775	CLIP-seq
MIRT2333788	hsa-miR-4789-5p	CLIP-seq
MIRT2110212	hsa-miR-489	CLIP-seq
MIRT1371459	hsa-miR-508-5p	CLIP-seq
MIRT2110214	hsa-miR-514	CLIP-seq
MIRT2110215	hsa-miR-514b-3p	CLIP-seq
MIRT2333789	hsa-miR-556-3p	CLIP-seq
MIRT2333790	hsa-miR-568	CLIP-seq
MIRT2333791	hsa-miR-582-5p	CLIP-seq
MIRT2333792	hsa-miR-606	CLIP-seq
MIRT2110216	hsa-miR-631	CLIP-seq
MIRT2333793	hsa-miR-7	CLIP-seq
MIRT2333794	hsa-miR-942	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT2394856	hsa-miR-155	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371458	hsa-miR-4766-5p	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT1371448	hsa-miR-1299	CLIP-seq
MIRT1371454	hsa-miR-4639-5p	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371457	hsa-miR-4753-5p	CLIP-seq
MIRT1371460	hsa-miR-875-3p	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT2110191	hsa-miR-101	CLIP-seq
MIRT2691412	hsa-miR-144	CLIP-seq
MIRT2110198	hsa-miR-296-5p	CLIP-seq
MIRT2110200	hsa-miR-3163	CLIP-seq
MIRT2110201	hsa-miR-323b-3p	CLIP-seq
MIRT2110203	hsa-miR-3661	CLIP-seq
MIRT2110205	hsa-miR-4256	CLIP-seq
MIRT2110206	hsa-miR-4266	CLIP-seq
MIRT2110207	hsa-miR-4285	CLIP-seq
MIRT2110208	hsa-miR-4695-5p	CLIP-seq
MIRT2110209	hsa-miR-4707-5p	CLIP-seq
MIRT2110210	hsa-miR-4779	CLIP-seq
MIRT2110216	hsa-miR-631	CLIP-seq
MIRT2110218	hsa-miR-765	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
STAT1	Unknown	16195385

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	17938176, 19149898
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	12065415, 15774904
GO:0000785	Component	Chromatin	NAS	12192000, 29374058
GO:0001164	Function	RNA polymerase I core promoter sequence-specific DNA binding	IDA	22368283
GO:0001188	Process	RNA polymerase I preinitiation complex assembly	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	14701856, 22368283
GO:0001650	Component	Fibrillar center	IDA
GO:0002039	Function	P53 binding	IPI	11950834
GO:0003407	Process	Neural retina development	IEP	18816825
GO:0003677	Function	DNA binding	IBA
GO:0003682	Function	Chromatin binding	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	11950834, 15774904
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IMP	16687403
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0003714	Function	Transcription corepressor activity	IDA	18487222, 20418909
GO:0003723	Function	RNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	8208605
GO:0005515	Function	Protein binding	IPI	10078207, 11726552, 11780067, 11988099, 12065415, 12192000, 12200431, 12368262, 12917342, 14701856, 15985610, 16051670, 16687403, 17984088, 18303029, 19149898, 19571879, 20224553, 20418909, 22140357, 23022380, 23540691, 24434208, 24550003, 24981860, 28420882, 28514442, 28649782, 301
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8232556, 11726552, 20418909, 22368283, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	34910916
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	22368283
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IC	18816825
GO:0006338	Process	Chromatin remodeling	IDA	10943845, 11726552
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IMP	22368283
GO:0006338	Process	Chromatin remodeling	NAS	10078207, 29374058
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 17920018, 18809673, 29374058
GO:0007399	Process	Nervous system development	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IGI	8232556
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	29374058
GO:0016020	Component	Membrane	HDA	19946888
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 10943845, 11078522, 11950834, 29374058
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	19571879
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030308	Process	Negative regulation of cell growth	IMP	12065415
GO:0030957	Function	Tat protein binding	IPI	16687403
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0031507	Process	Heterochromatin formation	IBA
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0042393	Function	Histone binding	IEA
GO:0042802	Function	Identical protein binding	IPI	12917342, 35512704
GO:0043923	Process	Host-mediated activation of viral transcription	IMP	16687403
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045596	Process	Negative regulation of cell differentiation	NAS	30510198
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	ISS	34910916
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12065415
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	18487222
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	8208605
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11950834, 15774904, 17938176
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	8232556
GO:0050681	Function	Nuclear androgen receptor binding	IPI	18487222
GO:0060766	Process	Negative regulation of androgen receptor signaling pathway	IMP	18487222
GO:0070182	Function	DNA polymerase binding	IPI	19571879
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	IDA	18816825
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	34910916
GO:0140092	Component	BBAF complex	NAS	12368262
GO:0140288	Component	GBAF complex	NAS	29374058
GO:0140658	Function	ATP-dependent chromatin remodeler activity	ISS	34910916
GO:0140750	Function	Nucleosome array spacer activity	IBA
GO:1901798	Process	Positive regulation of signal transduction by p53 class mediator	IDA	17938176
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	22368283
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	19279220, 30510198
GO:1902661	Process	Positive regulation of glucose mediated signaling pathway	IDA	22368283
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	25569094
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

Other IDs

• MIM: 603254
• HGNC: 11100
• e!Ensembl: ENSG00000127616

Protein

• UniProt ID: P51532
• Protein name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 (SMARCA4) (EC 3.6.4.-) (BRG1-associated factor 190A) (BAF190A) (Mitotic growth and transcription activator) (Protein BRG-1) (Protein brahma homolog 1) (SNF2-beta
• Protein function: ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing c
• PDB: 2GRC, 2H60, 3UVD, 5DKD, 5EA1, 6BGH, 6HR2, 6LTH, 6LTJ, 6SY2, 6ZS2, 7TAB, 7TD9, 7VDT, 7VDV, 7VRB, 7Y8R, 8EB1, 8G1Q, 8QJR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08880	QLQ	171 → 205	QLQ	Domain
  PF07529	HSA	461 → 531	HSA	Domain
  PF07533	BRK	611 → 654	BRK domain	Domain
  PF00176	SNF2_N	728 → 1052	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	1080 → 1194	Helicase conserved C-terminal domain	Family
  PF14619	SnAC	1322 → 1389	Snf2-ATP coupling, chromatin remodelling complex	Domain
  PF00439	Bromodomain	1462 → 1551	Bromodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Colocalizes with ZEB1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). {ECO:0000269|PubM
• Sequence:

  MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPPSAGHPIPTQG
  PGGYPQDNMHQMHKPMESMHEKGMSDDPRYNQMKGMGMRSGGHAGMGPPPSPMDQHSQGY
  PSPLGGSEHASSPVPASGPSSGPQMSSGPGGAPLDGADPQALGQQNRGPTPFNQNQLHQL
  RAQIMAYKMLARGQPLPDHLQMAVQGKRPMPGMQQQMPTLPPPSVSATGPGPGPGPGPGP
  GPGPAPPNYSRPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQ
  KLIPPQPTGRPSPAPPAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQSRITPIQKPRG
  LDPVEILQEREYRLQARIAHRIQELENLPGSLAGDLRTKATIELKALRLLNFQRQLRQEV
  VVCMRRDTALETALNAKAYKRSKRQSLREARITEKLEKQQKIEQERKRRQKHQEYLNSIL
  QHAKDFKEYHRSVTGKIQKLTKAVATYHANTEREQKKENERIEKERMRRLMAEDEEGYRK
  LIDQKKDKRLAYLLQQTDEYVANLTELVRQHKAAQVAKEKKKKKKKKKAENAEGQTPAIG
  PDGEPLDETSQMSDLPVKVIHVESGKILTGTDAPKAGQLEAWLEMNPGYEVAPRSDSEES
  GSEEEEEEEEEEQPQAAQPPTLPVEEKKKIPDPDSDDVSEVDARHIIENAKQDVDDEYGV
  SQALARGLQSYYAVAHAVTERVDKQSALMVNGVLKQYQIKGLEWLVSLYNNNLNGILADE
  MGLGKTIQTIALITYLMEHKRINGPFLIIVPLSTLSNWAYEFDKWAPSVVKVSYKGSPAA
  RRAFVPQLRSGKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTH
  YVAPRRLLLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMTGEKVDLNEEE
  TILIIRRLHKVLRPFLLRRLKKEVEAQLPEKVEYVIKCDMSALQRVLYRHMQAKGVLLTD
  GSEKDKKGKGGTKTLMNTIMQLRKICNHPYMFQHIEESFSEHLGFTGGIVQGLDLYRASG
  KFELLDRILPKLRATNHKVLLFCQMTSLMTIMEDYFAYRGFKYLRLDGTTKAEDRGMLLK
  TFNEPGSEYFIFLLSTRAGGLGLNLQSADTVIIFDSDWNPHQDLQAQDRAHRIGQQNEVR
  VLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEQDESR
  HCSTGSGSASFAHTAPPPAGVNPDLEEPPLKEEDEVPDDETVNQMIARHEEEFDLFMRMD
  LDRRREEARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKMFGRGSRHRKEVDYS
  DSLTEKQWLKAIEEGTLEEIEEEVRQKKSSRKRKRDSDAGSSTPTTSTRSRDKDDESKKQ
  KKRGRPPAEKLSPNPPNLTKKMKKIVDAVIKYKDSSSGRQLSEVFIQLPSRKELPEYYEL
  IRKPVDFKKIKERIRNHKYRSLNDLEKDVMLLCQNAQTFNLEGSLIYEDSIVLQSVFTSV
  RQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIKLGRKEKAQDRLKGGRRRPSRGS
  RAKPVVSDDDSEEEQEEDRSGSGSEED

• Sequence length: 1647

Pathways

KEGG:

ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma

Reactome:

Interleukin-7 signaling
Formation of the beta-catenin:TCF transactivating complex
RMTs methylate histone arginines
Chromatin modifying enzymes
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
EGR2 and SOX10-mediated initiation of Schwann cell myelination

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
Autistic behavior	Likely pathogenic	rs2086880392	RCV001254792	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood neoplasm	Likely pathogenic	rs2145936823	RCV003326285	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft palate	Likely pathogenic; Pathogenic	rs797045981	RCV001261245	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs2087029320	RCV001254793	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2146603666, rs1475054297, rs2145779070, rs1555774786, rs2145775805, rs2146473376, rs2146423140, rs2146678594, rs587777460, rs2145938835, rs2146541571, rs2145753179, rs2515320719, rs2146699322, rs2515349166, rs2147097839, rs2147086568, rs139505007, rs2513995099, rs543702763, rs1555754177, rs2514021598, rs1165714406, rs913673846, rs2514296017, rs2514448687, rs2514299816, rs2514451510, rs2514452594, rs1199819249, rs2514637870, rs2514886778, rs2146473230, rs797044856, rs2513999537, rs2514253574, rs797045981, rs797045982, rs797045987, rs267607070, rs878854224, rs2514090823, rs2514043086, rs756224211, rs143160246, rs2514040072, rs2515063089, rs2145936823, rs2515356007, rs2514887105, rs2146109671, rs2514299000, rs2146107905, rs2514565960, rs2514884822, rs2497758301, rs2515118170, rs2514004859, rs972341316, rs1555763642, rs1555771571, rs1555785056, rs1568422286, rs758517117, rs1295192121, rs1064796254, rs1599941421, rs1600068013, rs1600300837, rs1600335765, rs1600365455, rs1600389034, rs1600407324, rs1599942345, rs1489795776, rs2087817491, rs1600405252, rs769308802	RCV002341818 RCV002350724 RCV004951662 RCV002458570 RCV003289269 RCV002441004 RCV002440990 RCV004044357 RCV002453459 RCV002388863 RCV002257267 RCV002454859 RCV002355644 RCV002359585 RCV002357824 RCV002335173 RCV002342148 RCV002342281 RCV002337806 RCV002396235 RCV002416582 RCV002430191 RCV002419517 RCV002364916 RCV002403610 RCV002410392 RCV002398984 RCV002408050 RCV002410543 RCV002420119 RCV002428301 RCV002435399 RCV002435781 RCV001016793 RCV006292256 RCV003340540 RCV004948206 RCV003338458 RCV004020342 RCV001020623 RCV002327120 RCV003177602 RCV003177639 RCV003177644 RCV003177646 RCV003311092 RCV003278355 RCV003311099 RCV003326285 RCV003339170 RCV003339171 RCV004950559 RCV004523706 RCV004523714 RCV004523718 RCV004523729 RCV004523730 RCV004523734 RCV004525731 RCV000568863 RCV000572178 RCV000565075 RCV004025717 RCV002369719 RCV005492865 RCV001022708 RCV004950000 RCV002440625 RCV001018024 RCV001011842 RCV001017989 RCV001019597 RCV001020443 RCV001020608 RCV001021960 RCV001020584 RCV001018896 RCV005732271 RCV004679000 RCV002436951	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs2086880392	RCV001254792	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 16	Likely pathogenic; Pathogenic	rs2145970607, rs778175819, rs2146600868, rs2145938426, rs587779750, rs2146359668, rs2146360458, rs2146497910, rs2146373452, rs2146419846, rs2146417384, rs2145937134, rs1165714406, rs2146475644, rs797045981, rs2514828064, rs2086534991, rs756044034, rs2146417182, rs1060499936, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs770014321, rs770680174, rs1568456200, rs1600082188	RCV003444023 RCV003399330 RCV001716248 RCV001785389 RCV000114304 RCV001823049 RCV001838840 RCV002254371 RCV002254834 RCV002271998 RCV002272681 RCV002272683 RCV005025808 RCV002465394 RCV000760284 RCV003134135 RCV003152856 RCV003885324 RCV003985235 RCV000455885 RCV000023284 RCV000023286 RCV000023287 RCV000023288 RCV000023289 RCV000504508 RCV000680104 RCV000760243 RCV000995875	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic	rs1555774786	RCV005920694	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma WNT activated	Likely pathogenic	rs778175819, rs587779750, rs2089893983	RCV006254279 RCV006253794 RCV006254258	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs2146541571, rs1568498107	RCV004673654 RCV004669100	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Likely pathogenic	rs1469271544	RCV000722032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Otosclerosis 12	Pathogenic	rs1165714406	RCV005025808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdoid tumor predisposition syndrome 2	Likely pathogenic; Pathogenic	rs2145722767, rs2146238910, rs2146603666, rs2146647668, rs1475054297, rs2145752321, rs2145779070, rs2146234214, rs2146422656, rs2146497558, rs2146700981, rs867740591, rs2145775805, rs1308562238, rs2145815261, rs2146189762, rs2146193795, rs2145848353, rs2146451944, rs1305866080, rs2146473376, rs2145752709, rs2146423140, rs2146678594, rs587777460, rs587777461, rs587777462, rs587777463, rs587777464, rs1490850743, rs2146541525, rs2146516794, rs2146471651, rs2145938835, rs2146422618, rs2146421085, rs2146373508, rs2146279050, rs2088712889, rs2146541571, rs2515320719, rs1165714406, rs2145770748, rs2089893983, rs2515115443, rs2513999537, rs2147123261, rs2514253574, rs2514039500, rs797045980, rs797045981, rs797045982, rs797045987, rs2514810724, rs2146496372, rs1195642515, rs2514003614, rs2515208207, rs2147085761, rs267607070, rs2515285700, rs2514039278, rs1568528491, rs2515347783, rs2145821217, rs2514003116, rs2514296193, rs2515280406, rs878854224, rs143160246, rs2146192021, rs2514048994, rs281875230, rs2146423728, rs2146703685, rs2146094265, rs1164187847, rs2146420510, rs2515763244, rs2146649701, rs2514046757, rs2514697373, rs2514874118, rs2146236249, rs2513969861, rs2146239036, rs2146109671, rs2147114191, rs2146455415, rs2145846572, rs2513932327, rs2514466071, rs2515204417, rs769701819, rs2515487726, rs1060499936, rs1060502085, rs1060502102, rs1064794284, rs1555756326, rs780424104, rs972341316, rs1555771571, rs1555754293, rs1555757738, rs1555773269, rs1555774786, rs1555774702, rs1555755067, rs1555785056, rs1555795884, rs1555754177, rs1342399494, rs1568422286, rs1568430280, rs1568419675, rs1568462513, rs1568455217, rs758517117, rs1568498107, rs1568456200, rs1600277713, rs1295192121, rs1555763780, rs1064796254, rs1600644640, rs1600301361, rs1600335765, rs1600389034, rs1555752859, rs2086182638, rs2086356894, rs2086887013, rs2086888561, rs2087033635, rs2088999811, rs1555781050, rs2075088671, rs2087817491, rs2087041072, rs375507937, rs2090100956, rs2076695154, rs2086204386, rs1600405252, rs769308802, rs2074872521, rs2088710706	RCV001379777 RCV001379457 RCV001376824 RCV001379737 RCV001377592 RCV001387600 RCV001384987 RCV001382484 RCV001384833 RCV001385228 RCV001387027 RCV002035887 RCV001946401 RCV001990550 RCV001907283 RCV002032257 RCV001939387 RCV001941759 RCV002025422 RCV001955626 RCV001908816 RCV001919685 RCV001903188 RCV002037902 RCV000128402 RCV000128403 RCV000128404 RCV000128405 RCV000128406 RCV001897427 RCV001891703 RCV001942087 RCV002042909 RCV001929323 RCV001972868 RCV001904724 RCV001952920 RCV001966675 RCV002246730 RCV003774779 RCV003094417 RCV003099841 RCV003118012 RCV002800999 RCV002824314 RCV002801785 RCV002801824 RCV002834794 RCV002876398 RCV000193167 RCV000760284 RCV000194222 RCV000194866 RCV002857740 RCV002881065 RCV002999972 RCV002996087 RCV003007598 RCV003006074 RCV002996873 RCV000006932 RCV003046491 RCV003019678 RCV003037811 RCV003031392 RCV003026999 RCV003045555 RCV003030389 RCV003066055 RCV000232997 RCV005102803 RCV003466400 RCV003463557 RCV003466406 RCV003508044 RCV003507598 RCV003507530 RCV003508017 RCV003508239 RCV003507733 RCV003507931 RCV003507932 RCV003618134 RCV003618583 RCV003618526 RCV003618548 RCV003617319 RCV003617332 RCV003618730 RCV003617311 RCV003617355 RCV003617406 RCV003617453 RCV003617360 RCV003617626 RCV003992643 RCV004566526 RCV004573656 RCV003766476 RCV000471726 RCV000466062 RCV005090940 RCV000505549 RCV000533033 RCV000559694 RCV000813893 RCV000646854 RCV000646849 RCV000646869 RCV000646820 RCV000646901 RCV000646815 RCV000646878 RCV000646868 RCV005091886 RCV001523822 RCV000696040 RCV000698491 RCV000704323 RCV000707365 RCV000687522 RCV000695269 RCV000687557 RCV000755043 RCV000760243 RCV001856208 RCV000819290 RCV000793323 RCV000792175 RCV000822116 RCV000804659 RCV001381298 RCV001062353 RCV001067462 RCV001047934 RCV001035961 RCV001059594 RCV001067641 RCV001060858 RCV001049457 RCV001040671 RCV001059461 RCV001059502 RCV001095764 RCV001210253 RCV001202267 RCV001209102 RCV001205642 RCV001216303 RCV001242306 RCV001247974 RCV001238202	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SMARCA4-related BAFopathy	Likely pathogenic; Pathogenic	rs2145970607, rs2145971047, rs1431755388, rs778175819, rs2146543069, rs797045981, rs770680174	RCV001533107 RCV001533124 RCV001533125 RCV001533129 RCV001533131 RCV001533130 RCV001533132	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SMARCA4-related disorder	Pathogenic; Likely pathogenic	rs1568528491, rs770014321, rs972341316, rs1600300837, rs2089893983	RCV004725464 RCV004722842 RCV003392397 RCV004746198 RCV004746303	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenal cortex carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma IDH-mutant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial septal defect	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
bilateral breast cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURKITT LYMPHOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SMALL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral palsy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CEREBROVASCULAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	-; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COFFIN-SIRIS SYNDROME 4	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed speech and language development	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27M-mutant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facial asymmetry	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary nonpolyposis colon cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar ClinGen, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
intellectual deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	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	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma non-WNT/non-SHH	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma non-WNT/non-SHH group 3	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma SHH activated	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OTOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian neoplasm	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOID TUMOR PREDISPOSITION SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single transverse palmar crease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL CARCINOMA OF THE OVARY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of the ovary, hypercalcemic type	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CORPUS SARCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular septal defect	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	26997274		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15887247, 23163725, 25275049, 28038711, 28555282, 28814946		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23163725, 24520176, 28555282, 30972962		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	21940037		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	25920939		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27065321		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16840326, 31142665		★☆☆☆☆ Found in Text Mining only
African Burkitt`s lymphoma	African Burkitt`s Lymphoma	CTD_human_DG	23143597		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	21505078		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	17296936, 20110566, 21505078, 30649195, 8968741		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	21505078		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37895183	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplasia	Anaplasia	BEFREE	25792600, 25920939, 28863077		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30336142		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	26344687	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23963727		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28002318, 29848990, 35479077	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28711603, 28801844, 30149919		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23963727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	21566516, 29271065		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28714951, 32661233, 33799280	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28714951, 28960266		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28330902, 28416631		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	37076741	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	37054973	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	22675514		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	30973214	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	33528916	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15141164, 23533649, 27029062, 27223259, 27506935, 27630343, 28421159, 29288038, 30824191, 31614656		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14673169, 15141164, 23533649, 27029062, 27223259, 27390128, 27506935, 30309986, 33692124, 34675941, 35152838	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20333683	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	38369186	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	22675514		★☆☆☆☆ Found in Text Mining only
Burkitt Leukemia	Burkitt`s Lymphoma	CTD_human_DG	23143597		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	CTD_human_DG	23143597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	23143597, 35794096	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	23698369, 24867287, 26473533, 28251496		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	14673169, 21940037, 29750276, 31018240, 33596994, 36902184	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	38237798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12324708, 26126041, 26336887, 26343384, 26551623, 26743474, 27562491, 27656868, 28038711, 28256572		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	28084340, 28731042, 29700418, 31190001, 31751681, 31954538, 32972432, 33481850, 34949765, 35151345, 35278076, 37115272, 37194064, 38059551, 38124509, 38306886, 40275321	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	28417598	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24556940	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24556940, 28622513, 28700662, 28901494, 29427621, 34083693	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29352111	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	35307773	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11414763, 15287030, 15731117, 16247481, 18386774, 19176640, 22407764, 22721696, 25355421, 25370573, 26139243, 29892061, 30877105, 31617320, 31695026		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23792563, 24817979, 28731045, 31208361, 31751681, 37387441	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36178285	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	24375037, 24658001, 24658004, 25886974, 26356327, 26546963, 26645725, 26975901, 27866340, 28608987, 29365144, 29700418, 30275002, 31190001, 31844183, 31954538, 32149361, 32575483, 32649682, 33355532, 33532948, 34970085, 36813544, 37270804, 40407709	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	26564006, 33331994	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16998464	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	21564052		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	25920939		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	25275049		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30718506		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26952936		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	26344687	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	27630343		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23963727		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28515798	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	30084690		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	GWASCAT_DG	30510157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	33362776	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	31403913		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	32474671	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	24190014	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30372823		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	24190014		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	24262325, 29531354		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17243165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	17243165		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	28330902		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	23698369, 27065321		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33200197, 35986087	Associate	★☆☆☆☆ Found in Text Mining only
Chondroma	Chordoma	Pubtator	35151345	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	25319549		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29427621		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	35385219	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	19580815		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	CTD_human_DG	22426308		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	23637025, 24700502, 26138476, 27616479, 28608987, 30276971, 30317028		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COFFIN-SIRIS SYNDROME 4	Coffin-Siris syndrome	UNIPROT_DG	22426308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME 4	Coffin-Siris syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME 4	Coffin-Siris syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	BEFREE	28416631		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31601814		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28524162	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11532957, 27145366, 27852072		★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINGEN_DG	25058500, 27852072		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21102582, 25961913, 27145366, 28182012, 28899659, 29288038, 30401711		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21102582, 25058500, 35590122, 35900231	Associate	★☆☆☆☆ Found in Text Mining only
Complement Factor I Deficiency	Complement component deficiency	Pubtator	27101785	Associate	★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	28232072		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	30973214, 36849876	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	22194017		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	28646505		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27601681, 28232072		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24817979		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20810930, 28055962		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	20810930, 24190014, 24219970, 28055962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	20810930, 24190014, 24219970, 24902015	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	24219970	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	24262325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26343387, 29212778, 30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1	Coronary artery disease	GWASDB_DG	23202125		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	28055962	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20810930, 28055962, 28646505		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282, 21378990, 22319020		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	21378990, 24262325		★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	30572461	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29514675		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	12905483	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28714951, 33799280, 34205270, 36849876	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26344687		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	26344687	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26344687		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26344687	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26473533, 28251496		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	25304030, 26344687		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	31954538	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	29521646		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	27504996		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	25920939		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27656868		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26743474	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27101785, 28863077, 36958196, 39811899	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial stromal sarcoma, high grade	Endometrial Stromal Sarcoma	BEFREE	29700418		★☆☆☆☆ Found in Text Mining only
Endometrial stromal sarcoma, high grade	Endometrial Stromal Sarcoma	GENOMICS_ENGLAND_DG	31190001		★☆☆☆☆ Found in Text Mining only
Ependymoblastoma	Ependymoblastoma	BEFREE	29521646		★☆☆☆☆ Found in Text Mining only
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	BEFREE	28569786		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31406271		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26812616, 31406271, 37054973	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31406271		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26812616, 31406271, 35899307	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	16135788, 31906887	Associate	★☆☆☆☆ Found in Text Mining only
Familial rhabdoid tumor	Rhabdoid Tumor	Orphanet			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	22408259, 27373334		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	22408259	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	22408259, 27373334		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29890136, 29963902		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29427621, 31635808, 31750301		★☆☆☆☆ Found in Text Mining only
Floating-harbor syndrome	Floating-Harbor Syndrome	BEFREE	23165645		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	37054973	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	28212550	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27579614, 33528916, 37593885, 40133216	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23276717, 30171737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	22362300, 23276717, 29463646, 30171737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	22362300, 23276717, 29463646	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	37094128	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	19066270	Associate	★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	26135561		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30973214	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	31160358, 35385219	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	31160358, 35748249	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27601681, 28232072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25789315		★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG	25058500, 27852072		★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	25058500, 27852072		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	25058500, 27852072		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	25058500, 27852072		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31504276		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	24219970		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	33058778	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	24219970	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	24219970		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	26564006	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	26645725, 29700418, 31190001, 36813544	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	33532948	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31507094	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24042015, 31507094		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20596014		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20596014		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38252663	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	30382607		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27914010, 28416631, 28649782, 30649195, 31713968		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30973214, 34706719	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intraventricular Meningioma	Intraventricular Meningioma	BEFREE	31470906		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	27630343		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	29531354		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	37270804, 37553608	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31228616		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	25319549		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19066270, 24285714	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25789315, 28251496, 31350682		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29298978, 31178587, 34042280	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	26997274	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29298978		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	31142665		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	15586241, 16824695		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	26743474, 27562491	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	30382607		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23022495, 23088494, 24556940, 28700662, 28901494, 29352111, 30516846, 30546959		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29427621		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29427621	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29427621	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29427621	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	40158181, 40453096	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12566296, 15240517, 18386774		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15287030, 15731117, 19176640, 21280140, 25355421, 25629630, 30250255, 30339381		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23033341, 23163725, 24445599, 25355421, 26139243, 28256572, 30008631, 31617320, 32709715, 32855269, 33407425, 37387441	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	27145366		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37184108	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	31350682		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	31776129, 40275321	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Diffuse	Lymphoma	BEFREE	16322236		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15141164, 23533649, 25808524, 27029062, 27223259, 27506935, 27630343, 28421159, 29288038, 30824191, 31614656		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31406271		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29588366		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15287030, 15731117, 17546055, 18386774, 19176640, 22407764, 22721696, 25355421, 25370573, 25724377, 26139243, 27593925, 28102363, 29892061, 30877105, 31617320, 31695026		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	15586241, 16824695		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	24658001, 24658002, 24658004, 26343384		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30718506		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24585446, 24953335, 25792600		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12684665, 17075831, 30278885, 30496141, 30667054, 31154107		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	21564052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18006815, 25462860, 30177679		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12324708, 12684665, 15287030, 15586241, 15731117, 16824695, 17075831, 17546055, 18006815, 18437052, 19176640, 19448667, 20137775, 20418909, 21102582, 21280140, 21730156, 21940037, 22362300, 22407764, 22435813, 24421395, 24520176, 25010414, 25886974, 26230154, 26343384, 26997274, 27223259, 27413115, 27486753, 27593925, 27616479, 27630343, 28182012, 28232072, 28385531, 28521512, 29087303, 29288038, 29323272, 29352111, 29391527, 29397238, 29458976, 29700418, 30171737, 30286321, 30451731, 30527810, 30667054, 30897306, 31097095, 31267096, 31695026, 31722744		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17243165		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27145366, 27852072		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22820256, 22832583, 26290144, 31996670, 33331994	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	BEFREE	27065321, 29521646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	19149898, 19784067, 20083088, 20969766, 23349796, 23480510, 25803486, 26135561, 31065107, 31111478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	19149898	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	19784067, 20969766, 23028750, 23349796, 25026375, 26207740, 36317703	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36317703	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	31470906	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	30649195		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12	Mental retardation	GENOMICS_ENGLAND_DG	20137775		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	21505078		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	28608987		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	28608987	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37210563	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	20137775, 22426308, 23637025, 23775540, 23815551, 23929686, 24658001, 28608987		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	19198609, 26343387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	19198609		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	24475106, 29615549	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	28737171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	25119045		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	12905483	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	31041569		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	35468657, 40275321	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10441072, 10602515, 11085541, 11719516, 12324708, 12684665, 15287030, 15382044, 15586241, 15887247, 16135788, 16247481, 16824695, 17075831, 17546055, 17718852, 18386774, 18437052, 19149898, 19176640, 19448667, 19789351, 20418909, 20969766, 21280140, 21317927, 21564052, 21566516, 22362300, 22832583, 23163725, 23208470, 23229642, 23276717, 23349796, 23698369, 23868976, 24285714, 24520176, 24522270, 24658001, 24658002, 24658004, 24993775, 25010414, 25792600, 25808524, 25886974, 25920939, 25961913, 26126041, 26135561, 26343384, 26646792, 26743474, 27065321, 27145366, 27223259, 27486753, 28177947, 28182012, 28256572, 28555282, 28608987, 28643792, 28731042, 28844694, 28863077, 29102090, 29288038, 29352111, 29391527, 29467336, 29661713, 29700418, 29750276, 29892061, 30284660, 30382607, 30401711, 30451731, 30474823, 30496141, 30572461, 30667054, 30718506, 30897306, 30972962, 31273213, 31403913, 31504276, 7923370		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	21566516, 24658002		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29323272		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26996667, 31018240		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	Pubtator	31018240, 33211929, 36813544, 37186134, 37932047	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26138476, 28714951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	BEFREE	30459321		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18386774, 23872584, 24445599, 25115300, 28038711, 28102363, 28555282, 30478150, 30555633, 30718506, 30972962		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29427621, 29890136, 29963902		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	27630343		★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	28426098, 30188361		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	23276717	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	38225273	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	25886974, 35775118	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	24658001, 24658002, 24658004, 26343384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	30718506, 31676783, 31844183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24375037, 25886974, 28417598, 31676783, 31844183, 33230143, 37272300, 37345881	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32149361	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24585446, 24953335, 25792600		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24561622		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21940037	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22233809, 34375311	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	38306886	Associate	★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	24561622, 25792600		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28960266		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	11445556, 15756273		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	28671688		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12684665, 30278885, 30496141, 30667054, 31154107		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12684665, 17075831		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27701467, 33144576, 33323379, 33596994, 36883553	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30496141, 30667054		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	40193710	Stimulate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24817979		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	39513266	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	30973214		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10441072, 10602515, 11719516		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	11719516, 20851996	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	18437052, 20137775, 25494491, 26135561, 26343384, 28426098, 29700418		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	20137775, 25494491, 26139243, 27866340, 28084340, 28256572, 29700418, 33331994, 33481850, 34432771	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid tumor predisposition syndrome	Rhabdoid Tumor Predisposition Syndrome	BEFREE	20137775, 23775540, 29397238, 31403913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid tumor predisposition syndrome	Rhabdoid Tumor Predisposition Syndrome	ORPHANET_DG	20137775, 21566516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	20137775, 35775118	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	33532948	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 2	Rhabdoid Tumor Predisposition Syndrome	CLINGEN_DG	11163203, 20137775, 23540691, 23775540, 24658001, 24658002, 24658004		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdoid Tumor Predisposition Syndrome 2	Rhabdoid Tumor Predisposition Syndrome	GENOMICS_ENGLAND_DG	20137775, 24658002		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdoid Tumor Predisposition Syndrome 2	Rhabdoid Tumor Predisposition Syndrome	CLINVAR_DG	24658001, 24658002		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdoid Tumor Predisposition Syndrome 2	Rhabdoid tumor predisposition syndrome	Pubtator	25494491	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdoid Tumor Predisposition Syndrome 2	Rhabdoid Tumor Predisposition Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	17468105		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	17468105, 34095712, 34836971	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30459282		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	29042984		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	22265015		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	26343384, 28084340, 28256572, 28601660, 28643792, 29661713, 30762113, 31097095, 31190001, 31846533		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Sarcoma	CTD_human_DG	26343384		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Sarcoma	Pubtator	28256572, 31190001, 31617320, 31751681, 34030451, 34432771, 35151345, 35468657, 36178285, 36813544	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	30572461	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35151345	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	26139243	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	CTD_human_DG	26343384		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	CTD_human_DG	26343384		★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	19793862, 22704558, 25319549, 28334870		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	30401711		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Erosion	Skin Erosion	BEFREE	31800865		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18386774, 24362264, 24658002, 24658004, 25307865, 26123103, 26356327, 26564006, 27504996, 28292935, 28608987, 29102090, 29423809, 30451731, 30858614		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	26343384		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of ovary	Ovarian Carcinoma	BEFREE	25886974, 26135561		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of ovary	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of the ovary	Ovarian Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMARCA4-deficient sarcoma of thorax	Sarcoma Of Thorax	Orphanet			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21564052, 28038711, 28814946		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31406271		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36902184	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29857051		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12324708, 18006815, 30177679		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	37054973, 40275321	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30177679, 33481850, 33933102, 36916408	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stroke	Stroke	Pubtator	24190014	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic Neoplasms	Thoracic Neoplasms	CTD_human_DG	26343384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic Neoplasms	Thoracic neoplasm	Pubtator	31751681, 38124509	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to Activated Protein C Resistance	Thrombophilia	Pubtator	32661233	Associate	★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	25482724, 28643792		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	25482724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	30272326, 32737449	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	29750276	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27029062, 27223259		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	35241494	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	25920939, 27656868, 28084339, 28084340, 29700418, 31751681		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma of ovary	Undifferentiated ovarian carcinoma	BEFREE	26123103		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24993775	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	10082538, 34970085, 38178127	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Neoplasms	Vascular neoplasm	BEFREE	30382607		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	36976650	Stimulate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	36976650	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	25190313	Associate	★☆☆☆☆ Found in Text Mining only