CIC (capicua transcriptional repressor)

Gene

• Entrez ID: 23152
• Gene name: Capicua transcriptional repressor
• Gene symbol: CIC
• Synonyms (NCBI Gene): MRD45
• Disease Acronyms (UniProt): 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:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0005515	Function	Protein binding	IPI	16713569, 18337722, 25959826, 28514442, 29568061, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007420	Process	Brain development	ISS
GO:0007612	Process	Learning	ISS
GO:0007613	Process	Memory	ISS
GO:0035176	Process	Social behavior	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS

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

Causal
Disease term	Disease name	dbSNP ID	References
Anaplastic oligodendroglioma	Anaplastic Oligodendroglioma	rs1568504941
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	18337722
Attention deficit hyperactivity disorder	Attention Deficit Disorder, Attention deficit hyperactivity disorder	rs786205019	28288114
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	28288114
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Glioma	Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701
Mental retardation	Profound Mental Retardation, Mental deficiency, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	28288114, 21076407, 24896178
Non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Sarcoma	Sarcoma	rs11540652, rs104886003, rs137852790, rs1555927374

Unknown
Disease term	Disease name	Evidence	References	Source
Oligodendroglioma	Well Differentiated Oligodendroglioma			ClinVar
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Astrocytoma	Associate	32690110
Brain Neoplasms	Associate	22869205
Breast Neoplasms	Associate	19715603
Carcinogenesis	Associate	35836290
Craniocerebral Trauma	Associate	32026485
Desmoplastic Small Round Cell Tumor	Associate	22072439, 24723486, 24950227, 25010205, 26752546, 28233365, 28346326, 29572501
Developmental Disabilities	Associate	34117072, 35726512
Disease	Associate	19715603
Genetic Diseases Inborn	Associate	34117072
Glioma	Associate	22869205, 26061751, 26919320, 34589661, 34767259, 36647117, 37291277
Head and Neck Neoplasms	Associate	28337592
Hemangiosarcoma	Associate	28233365
Hemorrhage	Associate	32293288
Ichthyosis X Linked	Associate	28388591
Intellectual Disability	Associate	34117072
Liposarcoma Myxoid	Associate	22072439, 24947144, 27443513, 27562494, 27790742, 28233365, 29121995, 32362012
Liposarcoma Myxoid	Stimulate	24723486
Lymphoma Non Hodgkin	Associate	34597473
Melanoma	Associate	31647501
Mitral Valve Insufficiency	Associate	31215432
Multiple Myeloma	Associate	32043788
Neoplasms	Associate	21817013, 22072439, 22072542, 24030748, 24086756, 25694352, 26919320, 28270234, 29572501, 29700887, 31215432, 32026485, 32690110, 34232599, 34767259, 35440765, 35859319, 36383412, 36593014, 38395409
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Associate	32820034
Oligodendroglioma	Associate	21817013, 22072542, 22869205, 23071531, 25277207, 25694352, 26068201, 28388591, 32690110, 34767259, 36647117, 37291277
Post Infectious Disorders	Associate	26810418
Prostatic Neoplasms	Associate	36383412
Prostatitis	Associate	36383412
Sarcoma	Associate	24723486, 24947144, 27664537, 28337592, 28346326, 29104083, 29700887, 30376220, 31870501, 31886887, 32026485, 32293288, 33640895, 34232599, 35074756, 35836290, 35859319, 36593014, 37114626, 37312212, 38395409, 39567898
Sarcoma Ewing	Associate	24723486, 29533464, 32026485, 32362012, 38395409, 39567898
Sarcoma Small Cell	Associate	27790742, 29533464, 31676869, 38395409
Seizures	Associate	31215432, 36647117
Squamous Cell Carcinoma of Head and Neck	Associate	28337592
Stomach Neoplasms	Associate	36484990
Thyroid Cancer Papillary	Associate	26810418
Urinary Bladder Neoplasms	Associate	29959793