SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2)

Gene

• Entrez ID: 6595
• Gene name: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
• Gene symbol: SMARCA2
• Synonyms (NCBI Gene): BAF190, BIS, BRM, NCBRS, SAMRCA2, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a
• Chromosome: 9
• Chromosome location: 9p24.3
• Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs281875184	C>G	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875185	G>T	Pathogenic, not-provided	Intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281875186	G>A,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875187	G>A,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875188	C>A,T	Pathogenic, likely-pathogenic, not-provided	Intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281875189	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875190	C>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875192	C>G,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875196	G>A,C	Likely-pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875197	G>C,T	Likely-pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875198	G>C	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875199	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875238	C>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875239	G>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875240	A>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs387907194	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs797045974	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs797045976	C>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs863224921	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs863224922	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs886041042	C>G,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
rs886041045	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs886041299	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs886041954	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1057518414	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518558	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518982	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518983	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057520784	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057523836	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064794024	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691369	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691978	T>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1343138502	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1554619354	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554623112	C>G,T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554623885	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, intron variant
rs1554624095	T>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554624100	G>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554626829	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554629007	T>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1586635371	C>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1586657848	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660338	G>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660370	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660381	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660389	C>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586692481	A>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586692548	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586692551	G>A,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586721515	A>C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006560	hsa-miR-199a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21189327
MIRT006560	hsa-miR-199a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21189327
MIRT006561	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21189327
MIRT006561	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21189327
MIRT021170	hsa-miR-186-5p	Sequencing	20371350
MIRT023063	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023973	hsa-miR-1-3p	Proteomics	18668040
MIRT024676	hsa-miR-215-5p	Microarray	19074876
MIRT026760	hsa-miR-192-5p	Microarray	19074876
MIRT031298	hsa-miR-19b-3p	Sequencing	20371350
MIRT042638	hsa-miR-423-3p	CLASH	23622248
MIRT040280	hsa-miR-615-3p	CLASH	23622248
MIRT107488	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031298	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1371408	hsa-miR-1183	CLIP-seq
MIRT1371409	hsa-miR-128	CLIP-seq
MIRT1371410	hsa-miR-1304	CLIP-seq
MIRT1371411	hsa-miR-1305	CLIP-seq
MIRT1371412	hsa-miR-1321	CLIP-seq
MIRT1371413	hsa-miR-1323	CLIP-seq
MIRT1371414	hsa-miR-133a	CLIP-seq
MIRT1371415	hsa-miR-133b	CLIP-seq
MIRT1371416	hsa-miR-140-3p	CLIP-seq
MIRT1371417	hsa-miR-19a	CLIP-seq
MIRT1371418	hsa-miR-19b	CLIP-seq
MIRT1371419	hsa-miR-2909	CLIP-seq
MIRT1371420	hsa-miR-3065-5p	CLIP-seq
MIRT1371421	hsa-miR-3162-5p	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT1371426	hsa-miR-323b-3p	CLIP-seq
MIRT1371427	hsa-miR-3617	CLIP-seq
MIRT1371428	hsa-miR-421	CLIP-seq
MIRT1371429	hsa-miR-4272	CLIP-seq
MIRT1371430	hsa-miR-4289	CLIP-seq
MIRT1371431	hsa-miR-4315	CLIP-seq
MIRT1371432	hsa-miR-4428	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT1371434	hsa-miR-4434	CLIP-seq
MIRT1371435	hsa-miR-4504	CLIP-seq
MIRT1371436	hsa-miR-4516	CLIP-seq
MIRT1371437	hsa-miR-4704-5p	CLIP-seq
MIRT1371438	hsa-miR-4729	CLIP-seq
MIRT1371439	hsa-miR-4739	CLIP-seq
MIRT1371440	hsa-miR-4756-5p	CLIP-seq
MIRT1371441	hsa-miR-4786-3p	CLIP-seq
MIRT1371442	hsa-miR-518a-5p	CLIP-seq
MIRT1371443	hsa-miR-527	CLIP-seq
MIRT1371444	hsa-miR-548o	CLIP-seq
MIRT1371445	hsa-miR-561	CLIP-seq
MIRT1371446	hsa-miR-641	CLIP-seq
MIRT2110178	hsa-miR-1231	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT1371414	hsa-miR-133a	CLIP-seq
MIRT1371415	hsa-miR-133b	CLIP-seq
MIRT2110180	hsa-miR-1825	CLIP-seq
MIRT2110181	hsa-miR-3128	CLIP-seq
MIRT2110182	hsa-miR-3130-5p	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT2110184	hsa-miR-4288	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2110185	hsa-miR-4482	CLIP-seq
MIRT2110186	hsa-miR-4720-5p	CLIP-seq
MIRT2110187	hsa-miR-4799-3p	CLIP-seq
MIRT2110188	hsa-miR-515-3p	CLIP-seq
MIRT2110189	hsa-miR-519e	CLIP-seq
MIRT2110190	hsa-miR-632	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT2394851	hsa-miR-3152-5p	CLIP-seq
MIRT2394852	hsa-miR-3155	CLIP-seq
MIRT2394853	hsa-miR-3155b	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2394854	hsa-miR-4774-3p	CLIP-seq
MIRT2394855	hsa-miR-484	CLIP-seq
MIRT2433319	hsa-miR-101	CLIP-seq
MIRT2433320	hsa-miR-144	CLIP-seq
MIRT2433321	hsa-miR-300	CLIP-seq
MIRT2433322	hsa-miR-3140-3p	CLIP-seq
MIRT2433323	hsa-miR-3613-3p	CLIP-seq
MIRT2433324	hsa-miR-375	CLIP-seq
MIRT2433325	hsa-miR-376a	CLIP-seq
MIRT2433326	hsa-miR-376b	CLIP-seq
MIRT2433327	hsa-miR-381	CLIP-seq
MIRT2433328	hsa-miR-3942-3p	CLIP-seq
MIRT2433329	hsa-miR-411	CLIP-seq
MIRT2433330	hsa-miR-4666-3p	CLIP-seq
MIRT2433331	hsa-miR-4789-5p	CLIP-seq
MIRT2433332	hsa-miR-936	CLIP-seq
MIRT2628057	hsa-miR-1252	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT2110180	hsa-miR-1825	CLIP-seq
MIRT2110182	hsa-miR-3130-5p	CLIP-seq
MIRT2628058	hsa-miR-3132	CLIP-seq
MIRT2628059	hsa-miR-3148	CLIP-seq
MIRT2628060	hsa-miR-3168	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT1371426	hsa-miR-323b-3p	CLIP-seq
MIRT2628061	hsa-miR-3646	CLIP-seq
MIRT2628062	hsa-miR-3680	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT2628063	hsa-miR-425	CLIP-seq
MIRT2628064	hsa-miR-4277	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2628065	hsa-miR-4476	CLIP-seq
MIRT2110185	hsa-miR-4482	CLIP-seq
MIRT2628066	hsa-miR-4533	CLIP-seq
MIRT2628067	hsa-miR-4650-3p	CLIP-seq
MIRT2628068	hsa-miR-4680-5p	CLIP-seq
MIRT1371437	hsa-miR-4704-5p	CLIP-seq
MIRT1371441	hsa-miR-4786-3p	CLIP-seq
MIRT2110188	hsa-miR-515-3p	CLIP-seq
MIRT2110189	hsa-miR-519e	CLIP-seq
MIRT2628057	hsa-miR-1252	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT2110180	hsa-miR-1825	CLIP-seq
MIRT2110182	hsa-miR-3130-5p	CLIP-seq
MIRT2628058	hsa-miR-3132	CLIP-seq
MIRT2628059	hsa-miR-3148	CLIP-seq
MIRT2628060	hsa-miR-3168	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT2628061	hsa-miR-3646	CLIP-seq
MIRT2628062	hsa-miR-3680	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT2628063	hsa-miR-425	CLIP-seq
MIRT2628064	hsa-miR-4277	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2628065	hsa-miR-4476	CLIP-seq
MIRT2110185	hsa-miR-4482	CLIP-seq
MIRT2628066	hsa-miR-4533	CLIP-seq
MIRT2628067	hsa-miR-4650-3p	CLIP-seq
MIRT2628068	hsa-miR-4680-5p	CLIP-seq
MIRT2110188	hsa-miR-515-3p	CLIP-seq
MIRT2110189	hsa-miR-519e	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	17938176
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	12065415
GO:0000785	Component	Chromatin	NAS	12192000, 29374058
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	17984088
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	17984088
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	TAS	8223438
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	8223438
GO:0005515	Function	Protein binding	IPI	12065415, 12200431, 15107404, 15696166, 16341228, 16601680, 17984088, 20111005, 21653829, 25416956, 25910212, 26030138, 26787460, 33961781, 34591612, 35271311, 36950384
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17984088, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS	8670841
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	NAS	10078207, 29374058
GO:0006338	Process	Chromatin remodeling	TAS	17938176
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	8670841
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	11263494, 17340523, 17920018, 29374058
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	8223438
GO:0007286	Process	Spermatid development	IEA
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	TAS	17938176
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	29374058
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	14660596
GO:0016514	Component	SWI/SNF complex	IDA	11078522
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030308	Process	Negative regulation of cell growth	IMP	12065415
GO:0031507	Process	Heterochromatin formation	IBA
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0042393	Function	Histone binding	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
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
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12065415
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17984088
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	15774904
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	17938176
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
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:0140092	Component	BBAF complex	NAS	12368262
GO:0140288	Component	GBAF complex	NAS	29374058
GO:0140750	Function	Nucleosome array spacer activity	IBA
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	30510198
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
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

Other IDs

• MIM: 600014
• HGNC: 11098
• e!Ensembl: ENSG00000080503

Protein

• UniProt ID: P51531
• Protein name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 (SAMRCA2) (EC 3.6.4.-) (BRG1-associated factor 190B) (BAF190B) (Probable global transcription activator SNF2L2) (Protein brahma homolog) (hBRM) (SNF2-alpha)
• 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: 2DAT, 4QY4, 5DKC, 5DKH, 6EG2, 6EG3, 6HAX, 6HAY, 6HAZ, 7S4E, 7Z6L, 7Z76, 7Z77, 7Z78, 8G1P, 8QJT, 9D11, 9D12, 9E1K, 9E30, 9E31
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08880	QLQ	173 → 207	QLQ	Domain
  PF07529	HSA	437 → 507	HSA	Domain
  PF07533	BRK	589 → 632	BRK domain	Domain
  PF00176	SNF2_N	710 → 1022	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	1050 → 1164	Helicase conserved C-terminal domain	Family
  PF14619	SnAC	1244 → 1326	Snf2-ATP coupling, chromatin remodelling complex	Domain
  PF00439	Bromodomain	1411 → 1493	Bromodomain	Domain

• Sequence:

  MSTPTDPGAMPHPGPSPGPGPSPGPILGPSPGPGPSPGSVHSMMGPSPGPPSVSHPMPTM
  GSTDFPQEGMHQMHKPIDGIHDKGIVEDIHCGSMKGTGMRPPHPGMGPPQSPMDQHSQGY
  MSPHPSPLGAPEHVSSPMSGGGPTPPQMPPSQPGALIPGDPQAMSQPNRGPSPFSPVQLH
  QLRAQILAYKMLARGQPLPETLQLAVQGKRTLPGLQQQQQQQQQQQQQQQQQQQQQQQPQ
  QQPPQPQTQQQQQPALVNYNRPSGPGPELSGPSTPQKLPVPAPGGRPSPAPPAAAQPPAA
  AVPGPSVPQPAPGQPSPVLQLQQKQSRISPIQKPQGLDPVEILQEREYRLQARIAHRIQE
  LENLPGSLPPDLRTKATVELKALRLLNFQRQLRQEVVACMRRDTTLETALNSKAYKRSKR
  QTLREARMTEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVAGKIQKLSKAV
  ATWHANTEREQKKETERIEKERMRRLMAEDEEGYRKLIDQKKDRRLAYLLQQTDEYVANL
  TNLVWEHKQAQAAKEKKKRRRRKKKAEENAEGGESALGPDGEPIDESSQMSDLPVKVTHT
  ETGKVLFGPEAPKASQLDAWLEMNPGYEVAPRSDSEESDSDYEEEDEEEESSRQETEEKI
  LLDPNSEEVSEKDAKQIIETAKQDVDDEYSMQYSARGSQSYYTVAHAISERVEKQSALLI
  NGTLKHYQLQGLEWMVSLYNNNLNGILADEMGLGKTIQTIALITYLMEHKRLNGPYLIIV
  PLSTLSNWTYEFDKWAPSVVKISYKGTPAMRRSLVPQLRSGKFNVLLTTYEYIIKDKHIL
  AKIRWKYMIVDEGHRMKNHHCKLTQVLNTHYVAPRRILLTGTPLQNKLPELWALLNFLLP
  TIFKSCSTFEQWFNAPFAMTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPE
  KVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNTIMQLRKICNHPY
  MFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMT
  IMEDYFAFRNFLYLRLDGTTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADT
  VVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQKVIQ
  AGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDR
  RREDARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDAL
  TEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRRGRPPAEKLSPNP
  PKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYY
  ELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFK
  SARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNR
  GKAKPVVSDFDSDEEQDEREQSEGSGTDDE

• Sequence length: 1590

Pathways

KEGG:

ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma

Reactome:

RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

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
Blepharophimosis	Likely pathogenic	rs1586660338	RCV001258327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blepharophimosis - intellectual disability syndrome	Likely pathogenic	rs1820557069	RCV001261978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blepharophimosis-impaired intellectual development syndrome	Likely pathogenic; Pathogenic	rs2537347573, rs2537310121, rs281875199, rs1586692481, rs1586692548, rs1586692551, rs1586660370, rs1586657848, rs1586660381, rs281875197	RCV002471645 RCV002776548 RCV003326346 RCV001375921 RCV005232064 RCV001375922 RCV006449279 RCV001375920 RCV001375918 RCV001375919 RCV003147603	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hirsutism	Pathogenic	rs281875189	RCV001261297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs281875189, rs1554623112, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1821584135, rs1823200345	RCV001260811 RCV001260785 RCV001027657 RCV001027658 RCV001027659 RCV001027661 RCV001027662 RCV001029744 RCV001029745 RCV001029746 RCV001029747 RCV001029748 RCV001258327 RCV001260861 RCV001260788	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2130474729, rs1057518558	RCV002274374 RCV002274422	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs281875189	RCV002276808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nicolaides-Baraitser syndrome	Likely pathogenic; Pathogenic	rs1821581008, rs2130626814, rs2130599529, rs2130464312, rs2537379834, rs281875205, rs2537363604, rs797045974, rs797045976, rs863224922, rs863224921, rs2537347486, rs886041045, rs1207202747, rs2537404828, rs2537344600, rs2537344137, rs281875196, rs1057518414, rs281875238, rs281875239, rs281875187, rs281875240, rs281875184, rs281875185, rs281875186, rs281875188, rs281875189, rs281875190, rs281875198, rs387907194, rs1554623112, rs1554624100, rs1586721515, rs281875207, rs281875192, rs281875197, rs1586692551, rs1586660389, rs1823198138, rs1823192606, rs1821653681, rs281875202, rs1822649338, rs2537392050, rs1820558146	RCV001335088 RCV001706781 RCV001775434 RCV002246729 RCV002471832 RCV002471838 RCV002471840 RCV000195199 RCV000194318 RCV000196887 RCV000200789 RCV003152902 RCV000258017 RCV003329105 RCV003330159 RCV003529921 RCV004555271 RCV000408609 RCV002250622 RCV000022908 RCV000022909 RCV000022910 RCV000022911 RCV000022912 RCV000022913 RCV000022914 RCV000022915 RCV000022916 RCV000022917 RCV000022918 RCV000022919 RCV000024365 RCV000502088 RCV000504162 RCV000501135 RCV000680103 RCV000988137 RCV001270388 RCV002470756 RCV002255112 RCV001330804 RCV001261962 RCV001253448 RCV001260903 RCV001261295 RCV001261296 RCV001262574 RCV001265544 RCV001270403 RCV001283797	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs281875189	RCV005888649	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary stalk interruption syndrome	Likely pathogenic	rs1819528679	RCV001257301	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMARCA2-related BAFopathy	Likely pathogenic; Pathogenic	rs1821581008, rs281875199, rs1471482709, rs281875187, rs281875188, rs1554623112, rs1586692551	RCV001533097 RCV001533101 RCV001533102 RCV001533105 RCV001533103 RCV001533099 RCV001533104	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SMARCA2-related disorder	Likely pathogenic	rs2537374056, rs281875197, rs1820558146	RCV003906842 RCV003962982 RCV003399051	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal cerebral morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoid cystic carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS, INTELLECTUAL DISABILITY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chiari malformation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin Siris/Intellectual Disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome	not provided	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VEIN OF GALEN ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vein of Galen aneurysmal malformation	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absent eyebrow	Absent eyebrow	HPO_DG			★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	21564052		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15887247, 23163725, 28038711		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	28427211		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23163725, 30447346		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23685749, 30382367		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ 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
Anemia Aplastic	Aplastic anemia	Pubtator	29596882	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	28678310	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	28678310	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23685749, 30382367		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34296532	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24736721	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24736721, 28960266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	28330902		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	28846756, 34296532	Associate	★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15141164	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	38237798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25673149, 34118935, 35151345	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26551623, 26743474, 27656868, 28038711		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	30382367	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	18923443	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23359823, 38184822	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24519853, 30447346, 30478150, 30877105		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31751681	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	26356327, 32649682	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	26564006	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18923443	Associate	★☆☆☆☆ Found in Text Mining only
Catatonia	Catatonia	BEFREE	29523295		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	28330902		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	25319549		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	25948779		★☆☆☆☆ 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	BEFREE	27264538, 30838730, 31722744		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28070921		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26283027		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	14564210, 19606471, 22366787, 25169058, 25249037, 8287185		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27656868		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26743474	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	27665729	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34296532	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31406271		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24519853	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	31406271	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	16135788, 31906887	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	36899621	Associate	★☆☆☆☆ Found in Text Mining only
Floating-harbor syndrome	Floating-Harbor Syndrome	BEFREE	23165645		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37593885	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37094128	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33270637	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	32019955	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24519853		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24519853	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26283027	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25789315		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	26564006	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	34079072	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25169058, 25169878, 30649195, 31713968		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28846756, 31375262, 34706719, 35811451	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Failure, Chronic	Kidney Failure	BEFREE	25319549		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25789315		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27784745, 31350825	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	18068534, 27784745		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	26743474	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23022495, 23088494, 23359823, 25948779, 28296015, 28892201, 30516846, 31618054		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	25948779		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24519853, 40453096	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12566296, 15240517		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23163725, 23237220, 23359823, 24519853, 32855269	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24519853		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	25756049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31406271		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24519853, 30447346, 30478150, 30877105		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23229642, 28602977		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17075831		★☆☆☆☆ 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	25462860		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15586241, 18923443, 23322154, 24421395, 24519853, 24520176, 27827316, 28232072, 28427211, 28571677, 28602977, 29087303, 29391527, 29458976, 30451731, 30527810, 31267096, 31722744		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29961873		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19784067, 20969766, 23349796		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19784067, 20969766, 23349796, 25026375	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	22366787		★☆☆☆☆ 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
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37210563	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	14564210, 19606471, 22366787, 25169058, 25249037, 8287185		★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	BEFREE	27665729		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15887247, 16007216, 16824695, 17075831, 19488910, 21564052, 23163725, 23229642, 23276717, 24520176, 24522270, 26551623, 26743474, 27188282, 27827316, 29087303, 29391527, 29482773, 30447346, 30451731, 30478150, 31273213		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31273213, 31288860		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
neurofibroma	Neurofibroma	BEFREE	30722027		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	30722027		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	30722027		★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	BEFREE	22366787, 23637025, 25081545, 25169058, 27264538, 27665729, 30459321, 30838730, 31288860, 31375262, 31421289, 31541998		★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	GENOMICS_ENGLAND_DG	22366787		★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	CTD_human_DG	22366787		★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	ORPHANET_DG	22366787		★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	UNIPROT_DG	22366787, 22426308, 23906836, 27665729		★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nicolaides-Baraitser syndrome	Nicolaides Baraitser Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27401705, 27827316, 28038711, 30478150		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19652658		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	23276717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Pubtator	23276717	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Pubtator	23276717	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26356327	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23229642, 28602977		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22233809, 23229642	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	34079072	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28960266		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	35122417	Associate	★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17075831		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	37925496	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	11719516, 20851996	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	24913006		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	24913006	Inhibit	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	34079072	Associate	★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	22265015		★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	36178285	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Clear Cell	Sarcoma	Pubtator	34715942	Associate	★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	19793862, 22704558, 25319549, 28334870		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16749937, 19363039, 20457675, 24736721, 29523295		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16749937, 19363039, 20457675, 24736721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24736721	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35811451	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	31800865		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	18923443	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26356327, 26564006, 28292935, 29440177, 30858614		★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	BEFREE	19363039		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21564052, 28038711		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31406271		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19488910, 23322154		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33481850	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	10072425		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	27656868		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32073734	Inhibit	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only