CIC (capicua transcriptional repressor)

Gene

• Entrez ID: 23152
• Gene name: Capicua transcriptional repressor
• Gene symbol: CIC
• Synonyms (NCBI Gene): MRD45
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in D

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45596843	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs373584239	C>A,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs747706524	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs1135401823	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1135401824	->AAGAGACC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1135401825	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1422380205	->G	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555765151	->C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555769289	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555769968	ACCCACCACCAGCATC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555770200	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555773152	T>C	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1555773554	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1568503055	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568504941	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1599890939	A>TGTCCCCAGAACCT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1599892470	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1599910596	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041548	hsa-miR-193b-3p	CLASH	23622248
MIRT040881	hsa-miR-18a-3p	CLASH	23622248
MIRT040419	hsa-miR-615-3p	CLASH	23622248
MIRT082435	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT082431	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT082430	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT082433	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT082432	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT082434	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT548827	hsa-miR-1307-3p	PAR-CLIP	20371350
MIRT548826	hsa-miR-4638-5p	PAR-CLIP	20371350
MIRT082436	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT082437	hsa-miR-6815-3p	PAR-CLIP	20371350
MIRT082435	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT082431	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT082430	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT082433	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT082432	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT082434	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT548827	hsa-miR-1307-3p	PAR-CLIP	20371350
MIRT548826	hsa-miR-4638-5p	PAR-CLIP	20371350
MIRT082436	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT082437	hsa-miR-6815-3p	PAR-CLIP	20371350
MIRT082435	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT082431	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT082430	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT082433	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT082432	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT082434	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT548827	hsa-miR-1307-3p	PAR-CLIP	21572407
MIRT548826	hsa-miR-4638-5p	PAR-CLIP	21572407
MIRT082436	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT082435	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT082431	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT082430	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT082433	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT082432	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT082434	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT082436	hsa-miR-5589-3p	PAR-CLIP	24398324
MIRT082432	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT082435	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT082431	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT548827	hsa-miR-1307-3p	PAR-CLIP	26701625
MIRT082430	hsa-miR-25-3p	PAR-CLIP	26701625
MIRT082431	hsa-miR-32-5p	PAR-CLIP	26701625
MIRT082433	hsa-miR-363-3p	PAR-CLIP	26701625
MIRT082434	hsa-miR-367-3p	PAR-CLIP	26701625
MIRT548826	hsa-miR-4638-5p	PAR-CLIP	26701625
MIRT082436	hsa-miR-5589-3p	PAR-CLIP	26701625
MIRT082432	hsa-miR-92a-3p	PAR-CLIP	26701625
MIRT082435	hsa-miR-92b-3p	PAR-CLIP	26701625
MIRT082435	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT082431	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT082430	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT082433	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT082432	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT082434	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT548827	hsa-miR-1307-3p	PAR-CLIP	20371350
MIRT548826	hsa-miR-4638-5p	PAR-CLIP	20371350
MIRT082436	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT082437	hsa-miR-6815-3p	PAR-CLIP	20371350
MIRT082435	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT082431	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT082430	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT082433	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT082432	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT082434	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT548827	hsa-miR-1307-3p	PAR-CLIP	20371350
MIRT548826	hsa-miR-4638-5p	PAR-CLIP	20371350
MIRT082436	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT082437	hsa-miR-6815-3p	PAR-CLIP	20371350
MIRT082435	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT082431	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT082430	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT082433	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT082432	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT082434	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT548827	hsa-miR-1307-3p	PAR-CLIP	21572407
MIRT548826	hsa-miR-4638-5p	PAR-CLIP	21572407
MIRT082436	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT082435	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT082431	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT082430	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT082433	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT082432	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT082434	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT082436	hsa-miR-5589-3p	PAR-CLIP	24398324
MIRT893429	hsa-miR-106a	CLIP-seq
MIRT893430	hsa-miR-106b	CLIP-seq
MIRT893431	hsa-miR-1301	CLIP-seq
MIRT893432	hsa-miR-1307	CLIP-seq
MIRT893433	hsa-miR-142-5p	CLIP-seq
MIRT893434	hsa-miR-153	CLIP-seq
MIRT893435	hsa-miR-154	CLIP-seq
MIRT893436	hsa-miR-17	CLIP-seq
MIRT893437	hsa-miR-2052	CLIP-seq
MIRT893438	hsa-miR-20a	CLIP-seq
MIRT893439	hsa-miR-20b	CLIP-seq
MIRT893440	hsa-miR-216a	CLIP-seq
MIRT893441	hsa-miR-216b	CLIP-seq
MIRT893442	hsa-miR-25	CLIP-seq
MIRT893443	hsa-miR-3152-3p	CLIP-seq
MIRT893444	hsa-miR-32	CLIP-seq
MIRT893445	hsa-miR-3609	CLIP-seq
MIRT893446	hsa-miR-363	CLIP-seq
MIRT893447	hsa-miR-367	CLIP-seq
MIRT893448	hsa-miR-375	CLIP-seq
MIRT893449	hsa-miR-3924	CLIP-seq
MIRT893450	hsa-miR-3974	CLIP-seq
MIRT893451	hsa-miR-4267	CLIP-seq
MIRT893452	hsa-miR-4273	CLIP-seq
MIRT893453	hsa-miR-4307	CLIP-seq
MIRT893454	hsa-miR-4314	CLIP-seq
MIRT893455	hsa-miR-4317	CLIP-seq
MIRT893456	hsa-miR-432	CLIP-seq
MIRT893457	hsa-miR-4327	CLIP-seq
MIRT893458	hsa-miR-4419a	CLIP-seq
MIRT893459	hsa-miR-4443	CLIP-seq
MIRT893460	hsa-miR-448	CLIP-seq
MIRT893461	hsa-miR-450b-5p	CLIP-seq
MIRT893462	hsa-miR-4510	CLIP-seq
MIRT893463	hsa-miR-4667-5p	CLIP-seq
MIRT893464	hsa-miR-4677-5p	CLIP-seq
MIRT893465	hsa-miR-4687-5p	CLIP-seq
MIRT893466	hsa-miR-4700-5p	CLIP-seq
MIRT893467	hsa-miR-4779	CLIP-seq
MIRT893468	hsa-miR-4796-3p	CLIP-seq
MIRT893469	hsa-miR-493	CLIP-seq
MIRT893470	hsa-miR-5047	CLIP-seq
MIRT893471	hsa-miR-507	CLIP-seq
MIRT893472	hsa-miR-513a-5p	CLIP-seq
MIRT893473	hsa-miR-519d	CLIP-seq
MIRT893474	hsa-miR-548ah	CLIP-seq
MIRT893475	hsa-miR-557	CLIP-seq
MIRT893476	hsa-miR-637	CLIP-seq
MIRT893477	hsa-miR-720	CLIP-seq
MIRT893478	hsa-miR-765	CLIP-seq
MIRT893479	hsa-miR-766	CLIP-seq
MIRT893480	hsa-miR-92a	CLIP-seq
MIRT893481	hsa-miR-92b	CLIP-seq
MIRT893482	hsa-miR-93	CLIP-seq
MIRT893432	hsa-miR-1307	CLIP-seq
MIRT893442	hsa-miR-25	CLIP-seq
MIRT893444	hsa-miR-32	CLIP-seq
MIRT893446	hsa-miR-363	CLIP-seq
MIRT893447	hsa-miR-367	CLIP-seq
MIRT893480	hsa-miR-92a	CLIP-seq
MIRT893481	hsa-miR-92b	CLIP-seq
MIRT893429	hsa-miR-106a	CLIP-seq
MIRT893430	hsa-miR-106b	CLIP-seq
MIRT1964841	hsa-miR-1200	CLIP-seq
MIRT1964842	hsa-miR-1248	CLIP-seq
MIRT893432	hsa-miR-1307	CLIP-seq
MIRT893436	hsa-miR-17	CLIP-seq
MIRT1964843	hsa-miR-1913	CLIP-seq
MIRT893437	hsa-miR-2052	CLIP-seq
MIRT893438	hsa-miR-20a	CLIP-seq
MIRT893439	hsa-miR-20b	CLIP-seq
MIRT1964844	hsa-miR-2110	CLIP-seq
MIRT893440	hsa-miR-216a	CLIP-seq
MIRT893441	hsa-miR-216b	CLIP-seq
MIRT1964845	hsa-miR-2467-3p	CLIP-seq
MIRT893442	hsa-miR-25	CLIP-seq
MIRT1964846	hsa-miR-3065-3p	CLIP-seq
MIRT1964847	hsa-miR-3074-5p	CLIP-seq
MIRT893443	hsa-miR-3152-3p	CLIP-seq
MIRT1964848	hsa-miR-3179	CLIP-seq
MIRT1964849	hsa-miR-3184	CLIP-seq
MIRT893444	hsa-miR-32	CLIP-seq
MIRT1964850	hsa-miR-3202	CLIP-seq
MIRT1964851	hsa-miR-324-3p	CLIP-seq
MIRT1964852	hsa-miR-361-3p	CLIP-seq
MIRT1964853	hsa-miR-3616-3p	CLIP-seq
MIRT893446	hsa-miR-363	CLIP-seq
MIRT1964854	hsa-miR-3667-3p	CLIP-seq
MIRT893447	hsa-miR-367	CLIP-seq
MIRT1964855	hsa-miR-3689a-3p	CLIP-seq
MIRT1964856	hsa-miR-3689c	CLIP-seq
MIRT893448	hsa-miR-375	CLIP-seq
MIRT1964857	hsa-miR-423-5p	CLIP-seq
MIRT1964858	hsa-miR-4259	CLIP-seq
MIRT1964859	hsa-miR-4271	CLIP-seq
MIRT893452	hsa-miR-4273	CLIP-seq
MIRT1964860	hsa-miR-4300	CLIP-seq
MIRT893453	hsa-miR-4307	CLIP-seq
MIRT1964861	hsa-miR-4313	CLIP-seq
MIRT893454	hsa-miR-4314	CLIP-seq
MIRT893455	hsa-miR-4317	CLIP-seq
MIRT1964862	hsa-miR-4324	CLIP-seq
MIRT1964863	hsa-miR-4425	CLIP-seq
MIRT1964864	hsa-miR-4436b-3p	CLIP-seq
MIRT1964865	hsa-miR-4650-5p	CLIP-seq
MIRT893463	hsa-miR-4667-5p	CLIP-seq
MIRT893464	hsa-miR-4677-5p	CLIP-seq
MIRT1964866	hsa-miR-4690-5p	CLIP-seq
MIRT1964867	hsa-miR-4699-3p	CLIP-seq
MIRT893466	hsa-miR-4700-5p	CLIP-seq
MIRT1964868	hsa-miR-4716-3p	CLIP-seq
MIRT1964869	hsa-miR-4722-3p	CLIP-seq
MIRT1964870	hsa-miR-4725-3p	CLIP-seq
MIRT1964871	hsa-miR-4728-5p	CLIP-seq
MIRT1964872	hsa-miR-4747-5p	CLIP-seq
MIRT893473	hsa-miR-519d	CLIP-seq
MIRT1964873	hsa-miR-544b	CLIP-seq
MIRT1964874	hsa-miR-548k	CLIP-seq
MIRT1964875	hsa-miR-625	CLIP-seq
MIRT893476	hsa-miR-637	CLIP-seq
MIRT1964876	hsa-miR-718	CLIP-seq
MIRT893477	hsa-miR-720	CLIP-seq
MIRT1964877	hsa-miR-920	CLIP-seq
MIRT893480	hsa-miR-92a	CLIP-seq
MIRT893481	hsa-miR-92b	CLIP-seq
MIRT893482	hsa-miR-93	CLIP-seq
MIRT2200848	hsa-miR-1184	CLIP-seq
MIRT1964841	hsa-miR-1200	CLIP-seq
MIRT2200849	hsa-miR-1207-3p	CLIP-seq
MIRT893432	hsa-miR-1307	CLIP-seq
MIRT893435	hsa-miR-154	CLIP-seq
MIRT1964843	hsa-miR-1913	CLIP-seq
MIRT893437	hsa-miR-2052	CLIP-seq
MIRT1964844	hsa-miR-2110	CLIP-seq
MIRT893440	hsa-miR-216a	CLIP-seq
MIRT893441	hsa-miR-216b	CLIP-seq
MIRT2200850	hsa-miR-22	CLIP-seq
MIRT893442	hsa-miR-25	CLIP-seq
MIRT1964846	hsa-miR-3065-3p	CLIP-seq
MIRT1964849	hsa-miR-3184	CLIP-seq
MIRT893444	hsa-miR-32	CLIP-seq
MIRT1964851	hsa-miR-324-3p	CLIP-seq
MIRT1964852	hsa-miR-361-3p	CLIP-seq
MIRT893446	hsa-miR-363	CLIP-seq
MIRT893447	hsa-miR-367	CLIP-seq
MIRT893449	hsa-miR-3924	CLIP-seq
MIRT1964857	hsa-miR-423-5p	CLIP-seq
MIRT1964859	hsa-miR-4271	CLIP-seq
MIRT893453	hsa-miR-4307	CLIP-seq
MIRT1964861	hsa-miR-4313	CLIP-seq
MIRT893455	hsa-miR-4317	CLIP-seq
MIRT1964862	hsa-miR-4324	CLIP-seq
MIRT2200851	hsa-miR-4642	CLIP-seq
MIRT893463	hsa-miR-4667-5p	CLIP-seq
MIRT893466	hsa-miR-4700-5p	CLIP-seq
MIRT2200852	hsa-miR-4716-5p	CLIP-seq
MIRT2200853	hsa-miR-4720-5p	CLIP-seq
MIRT1964870	hsa-miR-4725-3p	CLIP-seq
MIRT2200854	hsa-miR-4749-3p	CLIP-seq
MIRT2200855	hsa-miR-4799-3p	CLIP-seq
MIRT2200856	hsa-miR-490-3p	CLIP-seq
MIRT1964873	hsa-miR-544b	CLIP-seq
MIRT893476	hsa-miR-637	CLIP-seq
MIRT2200857	hsa-miR-649	CLIP-seq
MIRT893477	hsa-miR-720	CLIP-seq
MIRT893480	hsa-miR-92a	CLIP-seq
MIRT893481	hsa-miR-92b	CLIP-seq
MIRT893432	hsa-miR-1307	CLIP-seq
MIRT893442	hsa-miR-25	CLIP-seq
MIRT893444	hsa-miR-32	CLIP-seq
MIRT893446	hsa-miR-363	CLIP-seq
MIRT893447	hsa-miR-367	CLIP-seq
MIRT893451	hsa-miR-4267	CLIP-seq
MIRT893453	hsa-miR-4307	CLIP-seq
MIRT893457	hsa-miR-4327	CLIP-seq
MIRT893479	hsa-miR-766	CLIP-seq
MIRT893480	hsa-miR-92a	CLIP-seq
MIRT893481	hsa-miR-92b	CLIP-seq
MIRT2200848	hsa-miR-1184	CLIP-seq
MIRT2200849	hsa-miR-1207-3p	CLIP-seq
MIRT1964843	hsa-miR-1913	CLIP-seq
MIRT2200850	hsa-miR-22	CLIP-seq
MIRT1964846	hsa-miR-3065-3p	CLIP-seq
MIRT1964848	hsa-miR-3179	CLIP-seq
MIRT1964850	hsa-miR-3202	CLIP-seq
MIRT1964851	hsa-miR-324-3p	CLIP-seq
MIRT1964852	hsa-miR-361-3p	CLIP-seq
MIRT1964860	hsa-miR-4300	CLIP-seq
MIRT1964861	hsa-miR-4313	CLIP-seq
MIRT893458	hsa-miR-4419a	CLIP-seq
MIRT893462	hsa-miR-4510	CLIP-seq
MIRT1964871	hsa-miR-4728-5p	CLIP-seq
MIRT1964872	hsa-miR-4747-5p	CLIP-seq
MIRT2200854	hsa-miR-4749-3p	CLIP-seq
MIRT1964877	hsa-miR-920	CLIP-seq
MIRT2447066	hsa-miR-3130-3p	CLIP-seq
MIRT2447067	hsa-miR-3136-3p	CLIP-seq
MIRT2447068	hsa-miR-3922-5p	CLIP-seq
MIRT893479	hsa-miR-766	CLIP-seq
MIRT2447069	hsa-miR-767-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	18706393
SREBF1	Unknown	17350599

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	16713569, 18337722, 25959826, 28514442, 29568061, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0007612	Process	Learning	IEA
GO:0007612	Process	Learning	ISS
GO:0007613	Process	Memory	IEA
GO:0007613	Process	Memory	ISS
GO:0032991	Component	Protein-containing complex	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0048286	Process	Lung alveolus development	IEA

Other IDs

• MIM: 612082
• HGNC: 14214
• e!Ensembl: ENSG00000079432

Protein

• UniProt ID: Q96RK0
• Protein name: Protein capicua homolog
• Protein function: Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development.
• PDB: 2M41, 4J2J, 4J2L, 6JRP, 6KZG, 6KZH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	200 → 268	HMG (high mobility group) box	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal brain. {ECO:0000269|PubMed:15981098}.
• Sequence:

  MYSAHRPLMPASSAASRGLGMFVWTNVEPRSVAVFPWHSLVPFLAPSQPDPSVQPSEAQQ
  PASHPVASNQSKEPAESAAVAHERPPGGTGSADPERPPGATCPESPGPGPPHPLGVVESG
  KGPPPTTEEEASGPPGEPRLDSETESDHDDAFLSIMSPEIQLPLPPGKRRTQSLSALPKE
  RDSSSEKDGRSPNKREKDHIRRPMNAFMIFSKRHRALVHQRHPNQDNRTVSKILGEWWYA
  LGPKEKQKYHDLAFQVKEAHFKAHPDWKWCNKDRKKSSSEAKPTSLGLAGGHKETRERSM
  SETGTAAAPGVSSELLSVAAQTLLSSDTKAPGSSSCGAERLHTVGGPGSARPRAFSHSGV
  HSLDGGEVDSQALQELTQMVSGPASYSGPKPSTQYGAPGPFAAPGEGGALAATGRPPLLP
  TRASRSQRAASEDMTSDEERMVICEEEGDDDVIADDGFGTTDIDLKCKERVTDSESGDSS
  GEDPEGNKGFGRKVFSPVIRSSFTHCRPPLDPEPPGPPDPPVAFGKGYGSAPSSSASSPA
  SSSASAATSFSLGSGTFKAQESGQGSTAGPLRPPPPGAGGPATPSKATRFLPMDPATFRR
  KRPESVGGLEPPGPSVIAAPPSGGGNILQTLVLPPNKEEQEGGGARVPSAPAPSLAYGAP
  AAPLSRPAATMVTNVVRPVSSTPVPIASKPFPTSGRAEASPNDTAGARTEMGTGSRVPGG
  SPLGVSLVYSDKKSAAATSPAPHLVAGPLLGTVGKAPATVTNLLVGTPGYGAPAPPAVQF
  IAQGAPGGGTTAGSGAGAGSGPNGPVPLGILQPGALGKAGGITQVQYILPTLPQQLQVAP
  APAPAPGTKAAAPSGPAPTTSIRFTLPPGTSTNGKVLAATAPTPGIPILQSVPSAPPPKA
  QSVSPVQAPPPGGSAQLLPGKVLVPLAAPSMSVRGGGAGQPLPLVSPPFSVPVQNGAQPP
  SKIIQLTPVPVSTPSGLVPPLSPATLPGPTSQPQKVLLPSSTRITYVQSAGGHALPLGTS
  PASSQAGTVTSYGPTSSVALGFTSLGPSGPAFVQPLLSAGQAPLLAPGQVGVSPVPSPQL
  PPACAAPGGPVITAFYSGSPAPTSSAPLAQPSQAPPSLVYTVATSTTPPAATILPKGPPA
  PATATPAPTSPFPSATAGSMTYSLVAPKAQRPSPKAPQKVKAAIASIPVGSFEAGASGRP
  GPAPRQPLEPGPVREPTAPESELEGQPTPPAPPPLPETWTPTARSSPPLPPPAEERTSAK
  GPETMASKFPSSSSDWRVPGQGLENRGEPPTPPSPAPAPAVAPGGSSESSSGRAAGDTPE
  RKEAAGTGKKVKVRPPPLKKTFDSVDNRVLSEVDFEERFAELPEFRPEEVLPSPTLQSLA
  TSPRAILGSYRKKRKNSTDLDSAPEDPTSPKRKMRRRSSCSSEPNTPKSAKCEGDIFTFD
  RTGTEAEDVLGELEYDKVPYSSLRRTLDQRRALVMQLFQDHGFFPSAQATAAFQARYADI
  FPSKVCLQLKIREVRQKIMQAATPTEQPPGAEAPLPVPPPTGTAAAPAPTPSPAGGPDPT
  SPSSDSGTAQAAPPLPPPPESGPGQPGWEGAPQPSPPPPGPSTAATGR

• Sequence length: 1608

Pathways

KEGG:

Spinocerebellar ataxia

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
Anaplastic oligodendroglioma	Likely pathogenic	rs1568504941	RCV004813136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic	rs2513956628	RCV003127230	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant non-syndromic intellectual disability	Pathogenic	rs2513811168	RCV002287590	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CIC-related disorder	Likely pathogenic	rs2147018633, rs2513935362, rs951320175, rs1599927721, rs2036883719, rs2513892504	RCV003394266 RCV003405754 RCV003399978 RCV003391605 RCV003393006 RCV003982658	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CIC-related neurodevelopmental disorders	Likely pathogenic	rs2037753806	RCV001249731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Likely pathogenic	rs2147185256	RCV005912617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 45	Pathogenic; Likely pathogenic	rs1282986679, rs2147185256, rs2147014804, rs2147313207, rs2147018633, rs752780532, rs2147320674, rs2513599364, rs2513973253, rs2513590118, rs761345552, rs2513839203, rs2513605675, rs2513951852, rs2513612309, rs2513599588, rs1568487734, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs373584239, rs1568504941, rs1599892470, rs747706524, rs2037753806	RCV001332028 RCV001726534 RCV001843960 RCV001843962 RCV001814929 RCV001823042 RCV002221910 RCV002290322 RCV002306439 RCV002471885 RCV002470225 RCV003330283 RCV003887841 RCV003991282 RCV003992075 RCV004017189 RCV004546900 RCV000496553 RCV000496754 RCV000496295 RCV000496576 RCV000504580 RCV004768647 RCV000789038 RCV000990225 RCV001265571	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1135401825	RCV000850481	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs1568504941	RCV005231330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2147195037	RCV002274328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodendroglioma	Likely pathogenic	rs1568504941	RCV006254155	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL FOLATE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAS-LOGAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability, autosomal dominant 1	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
NK-cell enteropathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPOTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	21231983		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	21817013, 22072542, 24714777, 25277207, 25943885, 26357005, 28985030		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	29682277		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	26919320		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	23071531		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angiofibroma	Angiofibroma	BEFREE	28274512		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22072542, 22869205, 24714777, 26919320		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	32690110	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG	18337722		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	28288114		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	28288114		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	28288114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28855737		★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain Neoplasms	Brain neoplasms	Pubtator	22869205	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21079774, 31681557		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19715603	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35836290	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	21231983		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31500928		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	21817013, 22072542, 24714777, 25277207, 25943885, 26357005, 28985030		★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24450541		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	32026485	Associate	★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	22072439, 24723486, 24950227, 25010205, 26752546, 28233365, 28346326, 29572501	Associate	★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	24801613, 29661713		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34117072, 35726512	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	23100451		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27550844		★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	30600320		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	24723486, 24801613, 26800124, 26847175, 27079694, 27306060, 28346326, 28404587, 28643791, 28985030, 29300189, 29572501, 30633925		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	30945750		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	24897389		★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	BEFREE	12685554, 16629771, 8845168		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22588899, 26919320, 30737375		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21360625, 30737375		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22869205, 26061751, 26919320, 34589661, 34767259, 36647117, 37291277	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23521081, 23896276, 26017892		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	2516882		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28337592	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	26735859, 28233365		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	28233365	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	32293288	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	31068035		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21076407, 28288114		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	27550844		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	34117072	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Liposarcoma Myxoid	Liposarcoma	Pubtator	22072439, 24947144, 27443513, 27562494, 27790742, 28233365, 29121995, 32362012	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	24723486	Stimulate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	30600320		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25267273		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15864913		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21079774, 31681557		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31500928		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21079774, 23100451, 24292392, 24681808, 26861454, 28985030, 29700887, 29844126, 30115695, 30906626, 31615839		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	15981098		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22588899		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24897389		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31647501	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	2516882		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	28956280		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21076407, 28288114		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	Mental retardation	GENOMICS_ENGLAND_DG	21076407, 24896178		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	Mental retardation	UNIPROT_DG	21076407, 28288114		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	28288114		★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	23521081		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31628267		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32043788	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30106190		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	BEFREE	12685554, 16629771, 8845168		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21817013, 22588899, 24086756, 24197863, 24450541, 24681808, 24723486, 26017892, 26357005, 26735859, 27793047, 27879517, 28062084, 28137728, 28188754, 28270234, 28346326, 28404587, 28474974, 28759137, 28985030, 29431183, 29434837, 29572501, 29661713, 29700887, 29844126, 29901569, 30115695, 30310990, 30407212, 31423502		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	15864913		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26794043, 29661713, 30115695		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	26386605		★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	29700887		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	21817013, 22072542, 22588899, 22869205, 24714777, 25277207, 25694352, 25943885, 26357005, 28985030, 29844126		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodendroglioma	Oligodendroglioma	Pubtator	21817013, 22072542, 22869205, 23071531, 25277207, 25694352, 26068201, 28388591, 32690110, 34767259, 36647117, 37291277	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	BEFREE	31500928		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21076407, 28288114		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36383412	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	29572501, 29661713		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22408058		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20826128		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19837261, 21813156, 22072439, 23887164, 24723486, 24801613, 24947144, 25007147, 26135561, 26386605, 26685084, 26847175, 27306060, 27443513, 27562494, 27664537, 27790742, 27919577, 28137728, 28188754, 28197724, 28233365, 28346326, 28404587, 28466754, 28474974, 28493604, 28643791, 28864350, 29300189, 29661713, 29700887, 29901569, 30310990, 30353686, 30474142, 30895378, 31802230		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	24723486, 24947144, 27664537, 28337592, 28346326, 29104083, 29700887, 30376220, 31870501, 31886887, 32026485, 32293288, 33640895, 34232599, 35074756, 35836290, 35859319, 36593014, 37114626, 37312212, 38395409, 39567898	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	24723486, 29533464, 32026485, 32362012, 38395409, 39567898	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma of kidney	Sarcoma Of Kidney	BEFREE	27919577		★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	24376795		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	29431183		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31215432, 36647117	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	23887164, 24723486		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	30600320		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG	18337722		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG	18337722		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG	18337722		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG	18337722		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG	18337722		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG	18337722		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28337592	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28985030		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36484990	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	29572501		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26810418	Associate	★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	28404587		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29959793	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	21817013, 22072542, 22588899, 22869205, 24714777, 25277207, 25694352, 25943885, 26357005, 28985030, 29844126		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only