ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)

Gene

• Entrez ID: 3708
• Gene name: Inositol 1,4,5-trisphosphate receptor type 1
• Gene symbol: ITPR1
• Synonyms (NCBI Gene): ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
• Chromosome: 3
• Chromosome location: 3p26.1
• Summary: This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41289628	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs41304179	C>T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs61757108	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs61757111	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs121912425	C>T	Pathogenic	Missense variant, coding sequence variant
rs182840163	C>T	Likely-pathogenic, benign, likely-benign	Coding sequence variant, synonymous variant
rs200335594	T>C	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs371988852	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs397514535	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397514536	A>G	Pathogenic	Missense variant, coding sequence variant
rs556943368	C>G,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs752281590	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797044955	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863224882	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869312685	G>A,C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs878853171	C>T	Pathogenic	Stop gained, coding sequence variant
rs878853172	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs878853173	A>T	Pathogenic	Genic downstream transcript variant, intron variant
rs878853174	G>T	Pathogenic	Genic downstream transcript variant, intron variant
rs878853175	AAG>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs878853176	T>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs878853177	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs886039392	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs886058579	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant
rs1057518026	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064796252	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796337	G>C	Pathogenic	Splice acceptor variant
rs1085308010	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1114167316	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691473	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1131691919	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1249951465	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1322796318	A>G	Pathogenic	Missense variant, coding sequence variant
rs1553654413	CGTA>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553666546	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1553683825	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553689752	->TATA	Pathogenic	Frameshift variant, coding sequence variant
rs1553756062	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553758021	T>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1559603328	GAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1559638068	A>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003225	hsa-miR-424-5p	Luciferase reporter assay	20065103
MIRT017604	hsa-miR-335-5p	Microarray	18185580
MIRT019619	hsa-miR-340-5p	Sequencing	20371350
MIRT022001	hsa-miR-128-3p	Sequencing	20371350
MIRT028366	hsa-miR-32-5p	Sequencing	20371350
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT092181	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT092185	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT092184	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT028366	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT092189	hsa-miR-4803	PAR-CLIP	20371350
MIRT475080	hsa-miR-3163	PAR-CLIP	20371350
MIRT092187	hsa-miR-4328	PAR-CLIP	20371350
MIRT019619	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT092181	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT092185	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT092184	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028366	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT092189	hsa-miR-4803	PAR-CLIP	21572407
MIRT475080	hsa-miR-3163	PAR-CLIP	21572407
MIRT092187	hsa-miR-4328	PAR-CLIP	21572407
MIRT019619	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT092181	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT092185	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT092184	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT028366	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT092189	hsa-miR-4803	PAR-CLIP	23592263
MIRT475080	hsa-miR-3163	PAR-CLIP	23592263
MIRT092187	hsa-miR-4328	PAR-CLIP	23592263
MIRT019619	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT092190	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT092194	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT092191	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT092195	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT162697	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT162698	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT092182	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT092186	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028366	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT092181	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT092185	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT092184	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT028366	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT092189	hsa-miR-4803	PAR-CLIP	20371350
MIRT475080	hsa-miR-3163	PAR-CLIP	20371350
MIRT092187	hsa-miR-4328	PAR-CLIP	20371350
MIRT019619	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT092181	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT092185	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT092184	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028366	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT092189	hsa-miR-4803	PAR-CLIP	21572407
MIRT475080	hsa-miR-3163	PAR-CLIP	21572407
MIRT092187	hsa-miR-4328	PAR-CLIP	21572407
MIRT019619	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT092181	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT092185	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT092184	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT028366	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT092189	hsa-miR-4803	PAR-CLIP	23592263
MIRT475080	hsa-miR-3163	PAR-CLIP	23592263
MIRT092187	hsa-miR-4328	PAR-CLIP	23592263
MIRT019619	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT1074979	hsa-miR-1197	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT1074981	hsa-miR-204	CLIP-seq
MIRT1074982	hsa-miR-211	CLIP-seq
MIRT1074983	hsa-miR-3117-3p	CLIP-seq
MIRT1074984	hsa-miR-329	CLIP-seq
MIRT1074985	hsa-miR-3607-5p	CLIP-seq
MIRT1074986	hsa-miR-362-3p	CLIP-seq
MIRT1074987	hsa-miR-376c	CLIP-seq
MIRT1074988	hsa-miR-4287	CLIP-seq
MIRT1074989	hsa-miR-4300	CLIP-seq
MIRT1074990	hsa-miR-4501	CLIP-seq
MIRT1074991	hsa-miR-4504	CLIP-seq
MIRT1074992	hsa-miR-4685-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1074996	hsa-miR-542-3p	CLIP-seq
MIRT1074997	hsa-miR-651	CLIP-seq
MIRT1074998	hsa-miR-920	CLIP-seq
MIRT1074999	hsa-miR-103a	CLIP-seq
MIRT1075000	hsa-miR-107	CLIP-seq
MIRT1075001	hsa-miR-125a-3p	CLIP-seq
MIRT1075002	hsa-miR-1262	CLIP-seq
MIRT1075003	hsa-miR-1271	CLIP-seq
MIRT1075004	hsa-miR-1297	CLIP-seq
MIRT1075005	hsa-miR-130a	CLIP-seq
MIRT1075006	hsa-miR-130b	CLIP-seq
MIRT1075007	hsa-miR-15a	CLIP-seq
MIRT1075008	hsa-miR-15b	CLIP-seq
MIRT1075009	hsa-miR-16	CLIP-seq
MIRT1075010	hsa-miR-182	CLIP-seq
MIRT1075011	hsa-miR-195	CLIP-seq
MIRT1075012	hsa-miR-19a	CLIP-seq
MIRT1075013	hsa-miR-19b	CLIP-seq
MIRT1075014	hsa-miR-203	CLIP-seq
MIRT1075015	hsa-miR-224	CLIP-seq
MIRT1075016	hsa-miR-26a	CLIP-seq
MIRT1075017	hsa-miR-26b	CLIP-seq
MIRT1075018	hsa-miR-301a	CLIP-seq
MIRT1075019	hsa-miR-301b	CLIP-seq
MIRT1075020	hsa-miR-3646	CLIP-seq
MIRT1075021	hsa-miR-3666	CLIP-seq
MIRT1075022	hsa-miR-3934	CLIP-seq
MIRT1075023	hsa-miR-424	CLIP-seq
MIRT1075024	hsa-miR-4274	CLIP-seq
MIRT1075025	hsa-miR-4295	CLIP-seq
MIRT1075026	hsa-miR-4465	CLIP-seq
MIRT1075027	hsa-miR-4519	CLIP-seq
MIRT1075028	hsa-miR-454	CLIP-seq
MIRT1075029	hsa-miR-4662a-5p	CLIP-seq
MIRT1075030	hsa-miR-4666-5p	CLIP-seq
MIRT1075031	hsa-miR-4694-3p	CLIP-seq
MIRT1075032	hsa-miR-4701-3p	CLIP-seq
MIRT1075033	hsa-miR-4719	CLIP-seq
MIRT1075034	hsa-miR-488	CLIP-seq
MIRT1075035	hsa-miR-497	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1075036	hsa-miR-522	CLIP-seq
MIRT1075037	hsa-miR-579	CLIP-seq
MIRT1075038	hsa-miR-764	CLIP-seq
MIRT1075039	hsa-miR-885-3p	CLIP-seq
MIRT1075040	hsa-miR-96	CLIP-seq
MIRT1075001	hsa-miR-125a-3p	CLIP-seq
MIRT1075004	hsa-miR-1297	CLIP-seq
MIRT1075005	hsa-miR-130a	CLIP-seq
MIRT1075006	hsa-miR-130b	CLIP-seq
MIRT1075012	hsa-miR-19a	CLIP-seq
MIRT1075013	hsa-miR-19b	CLIP-seq
MIRT1075016	hsa-miR-26a	CLIP-seq
MIRT1075017	hsa-miR-26b	CLIP-seq
MIRT1075018	hsa-miR-301a	CLIP-seq
MIRT1075019	hsa-miR-301b	CLIP-seq
MIRT2018594	hsa-miR-3160-5p	CLIP-seq
MIRT1075021	hsa-miR-3666	CLIP-seq
MIRT2018595	hsa-miR-3667-3p	CLIP-seq
MIRT1075022	hsa-miR-3934	CLIP-seq
MIRT1075025	hsa-miR-4295	CLIP-seq
MIRT1075026	hsa-miR-4465	CLIP-seq
MIRT1075028	hsa-miR-454	CLIP-seq
MIRT2018596	hsa-miR-4540	CLIP-seq
MIRT2018597	hsa-miR-4652-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1075038	hsa-miR-764	CLIP-seq
MIRT2250423	hsa-miR-4738-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1074999	hsa-miR-103a	CLIP-seq
MIRT1075000	hsa-miR-107	CLIP-seq
MIRT2553999	hsa-miR-1185	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT1075003	hsa-miR-1271	CLIP-seq
MIRT1075007	hsa-miR-15a	CLIP-seq
MIRT1075008	hsa-miR-15b	CLIP-seq
MIRT1075009	hsa-miR-16	CLIP-seq
MIRT1075010	hsa-miR-182	CLIP-seq
MIRT1075011	hsa-miR-195	CLIP-seq
MIRT2554000	hsa-miR-3679-5p	CLIP-seq
MIRT2554001	hsa-miR-3680	CLIP-seq
MIRT1075023	hsa-miR-424	CLIP-seq
MIRT2554002	hsa-miR-4252	CLIP-seq
MIRT1075030	hsa-miR-4666-5p	CLIP-seq
MIRT2554003	hsa-miR-4729	CLIP-seq
MIRT2554004	hsa-miR-4733-3p	CLIP-seq
MIRT2250423	hsa-miR-4738-3p	CLIP-seq
MIRT2554005	hsa-miR-4775	CLIP-seq
MIRT2554006	hsa-miR-4802-3p	CLIP-seq
MIRT1075034	hsa-miR-488	CLIP-seq
MIRT1075035	hsa-miR-497	CLIP-seq
MIRT2554007	hsa-miR-556-3p	CLIP-seq
MIRT1075037	hsa-miR-579	CLIP-seq
MIRT2554008	hsa-miR-590-3p	CLIP-seq
MIRT1075039	hsa-miR-885-3p	CLIP-seq
MIRT2554009	hsa-miR-889	CLIP-seq
MIRT1075040	hsa-miR-96	CLIP-seq
MIRT2553999	hsa-miR-1185	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT2683023	hsa-miR-1246	CLIP-seq
MIRT2683024	hsa-miR-1279	CLIP-seq
MIRT2683025	hsa-miR-153	CLIP-seq
MIRT1074981	hsa-miR-204	CLIP-seq
MIRT1074982	hsa-miR-211	CLIP-seq
MIRT2683026	hsa-miR-3117-5p	CLIP-seq
MIRT2683027	hsa-miR-3140-5p	CLIP-seq
MIRT2683028	hsa-miR-3187-3p	CLIP-seq
MIRT2554000	hsa-miR-3679-5p	CLIP-seq
MIRT2683029	hsa-miR-3942-3p	CLIP-seq
MIRT2683030	hsa-miR-412	CLIP-seq
MIRT2554002	hsa-miR-4252	CLIP-seq
MIRT2683031	hsa-miR-4435	CLIP-seq
MIRT2683032	hsa-miR-4457	CLIP-seq
MIRT2683033	hsa-miR-4474-3p	CLIP-seq
MIRT2683034	hsa-miR-4528	CLIP-seq
MIRT2683035	hsa-miR-4530	CLIP-seq
MIRT2683036	hsa-miR-4698	CLIP-seq
MIRT2683037	hsa-miR-4701-5p	CLIP-seq
MIRT2554003	hsa-miR-4729	CLIP-seq
MIRT2554004	hsa-miR-4733-3p	CLIP-seq
MIRT2683038	hsa-miR-4755-5p	CLIP-seq
MIRT2683039	hsa-miR-4760-3p	CLIP-seq
MIRT2683040	hsa-miR-4764-5p	CLIP-seq
MIRT2683041	hsa-miR-4778-3p	CLIP-seq
MIRT2683042	hsa-miR-509-3p	CLIP-seq
MIRT2683043	hsa-miR-513b	CLIP-seq
MIRT2683044	hsa-miR-548aa	CLIP-seq
MIRT2683045	hsa-miR-548s	CLIP-seq
MIRT2683046	hsa-miR-576-5p	CLIP-seq
MIRT2683047	hsa-miR-586	CLIP-seq
MIRT2683048	hsa-miR-588	CLIP-seq
MIRT2683049	hsa-miR-617	CLIP-seq
MIRT2683050	hsa-miR-623	CLIP-seq
MIRT2683051	hsa-miR-654-3p	CLIP-seq
MIRT2683052	hsa-miR-664	CLIP-seq
MIRT2683053	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001666	Process	Response to hypoxia	IDA	19120137
GO:0001666	Process	Response to hypoxia	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IBA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IDA	10620513, 36376291
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IEA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IMP	27108797
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	ISS
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	TAS	8648241
GO:0005262	Function	Calcium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005515	Function	Protein binding	IPI	16793548, 19220705, 20010695, 22045699, 23884412, 27995898
GO:0005524	Function	ATP binding	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005783	Component	Endoplasmic reticulum	NAS	8648241
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	7852357, 27108798
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005955	Component	Calcineurin complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	NAS	7852357
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	NAS	8648241
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007207	Process	Phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007338	Process	Single fertilization	ISS
GO:0009791	Process	Post-embryonic development	IEA
GO:0010506	Process	Regulation of autophagy	TAS	22770472
GO:0014069	Component	Postsynaptic density	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	TAS	7500840
GO:0015278	Function	Intracellularly gated calcium channel activity	IEA
GO:0015278	Function	Intracellularly gated calcium channel activity	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019855	Function	Calcium channel inhibitor activity	IDA	16793548
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IBA
GO:0031088	Component	Platelet dense granule membrane	IDA	10828023
GO:0031094	Component	Platelet dense tubular network	IDA	10828023
GO:0031095	Component	Platelet dense tubular network membrane	IEA
GO:0031095	Component	Platelet dense tubular network membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035091	Function	Phosphatidylinositol binding	IBA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0036444	Process	Calcium import into the mitochondrion	ISS
GO:0042045	Process	Epithelial fluid transport	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	29907098
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050849	Process	Negative regulation of calcium-mediated signaling	IDA	16793548
GO:0050882	Process	Voluntary musculoskeletal movement	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	10620513
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051289	Process	Protein homotetramerization	IEA
GO:0051289	Process	Protein homotetramerization	ISS
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IBA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IEA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	ISS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098695	Function	Inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels	IEA
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:1903514	Process	Release of sequestered calcium ion into cytosol by endoplasmic reticulum	IDA	36376291
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IEA

Other IDs

• MIM: 147265
• HGNC: 6180
• e!Ensembl: ENSG00000150995

Protein

• UniProt ID: Q14643
• Protein name: Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 (IP3 receptor isoform 1) (IP3R 1) (InsP3R1) (Inositol 1,4,5 trisphosphate receptor) (Inositol 1,4,5-trisphosphate receptor type 1) (Type 1 inositol 1,4,5-trisphosphate receptor) (Type 1 InsP3 recept
• Protein function: Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER) (PubMed:10620513, PubMed:27108797). Undergoes conformational changes upon ligand bin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08709	Ins145_P3_rec	4 → 229	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
  PF02815	MIR	232 → 433	MIR domain	Domain
  PF01365	RYDR_ITPR	474 → 670	RIH domain	Family
  PF01365	RYDR_ITPR	1194 → 1354	RIH domain	Family
  PF08454	RIH_assoc	1968 → 2078	RyR and IP3R Homology associated	Family
  PF00520	Ion_trans	2320 → 2609	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:7500840}.
• Sequence:

  MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKL
  CPMNRYSAQKQFWKAAKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNV
  IQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGD
  KVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVV
  RLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWN
  SLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLRNAQEKMVYSLVSVPE
  GNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGT
  SPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDL
  VYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEE
  LGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLH
  NNRKLLEKHITAAEIDTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPT
  NADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDA
  KEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRA
  SFCRLMLHMHVDRDPQEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEF
  VEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVH
  VTTIFPISKMAKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAA
  PEGNVKQAEPEKEDIMVMDTKLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSE
  TSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMH
  DYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSE
  LWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQE
  SASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQ
  NQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIK
  FLQTIVKAEGKFIKKCQDMVMAELVNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSP
  LMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCY
  VDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFF
  SSPFSDQSTTLQTRQPVFVQLLQGVFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAI
  PVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSAL
  EDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKL
  CIKVLQTLREMMTKDRGYGEKLISIDELDNAELPPAPDSENATEELEPSPPLRQLEDHKR
  GEALRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSL
  AEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKK
  SEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEV
  RDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRF
  LQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVAL
  INQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNA
  SKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNV
  GHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPV
  PSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARN
  MSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHG
  IRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEF
  LYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILV
  YLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPRE
  ELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLL
  FFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHI
  KEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQ
  NELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGHPPHMNVNPQQPA

• Sequence length: 2758

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
Phosphatidylinositol signaling system
Oocyte meiosis
Autophagy - animal
Apoptosis
Cellular senescence
Vascular smooth muscle contraction
Apelin signaling pathway
Osteoclast differentiation
Gap junction
Platelet activation
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
Dopaminergic synapse
Long-term depression
Inflammatory mediator regulation of TRP channels
GnRH signaling pathway
Estrogen signaling pathway
Thyroid hormone synthesis
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Cushing syndrome
Growth hormone synthesis, secretion and action
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Alzheimer disease
Parkinson disease
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Shigellosis
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Proteoglycans in cancer
Lipid and atherosclerosis

Reactome:

Effects of PIP2 hydrolysis
Elevation of cytosolic Ca2+ levels
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
cGMP effects
Ion homeostasis
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

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
Anterior segment dysgenesis	Likely pathogenic; Pathogenic	rs752281590	RCV001200032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral congenital mydriasis	Likely pathogenic	rs2469953279	RCV002291348	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gillespie syndrome	Likely pathogenic; Pathogenic	rs2106492882, rs878853171, rs878853172, rs878853173, rs878853174, rs878853175, rs878853176, rs878853177, rs752281590, rs2469879768, rs886039392, rs1553654413, rs1553689752, rs1553758021, rs1559718601, rs1559638068, rs2046415471	RCV001650509 RCV000224999 RCV000224993 RCV000224998 RCV000225000 RCV000224994 RCV000224997 RCV000224992 RCV000224995 RCV000224996 RCV003153230 RCV000850563 RCV000625524 RCV000578130 RCV000625707 RCV002311994 RCV000754783 RCV001255609	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs2093873717	RCV001260628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ITPR1-associated cerebellar ataxia spectrum disorder	Likely pathogenic; Pathogenic	rs1553758021	RCV000677398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ITPR1-related disorders	Likely pathogenic	rs1559718601	RCV005250102	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs886039392	RCV002278250	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 15/16	Likely pathogenic; Pathogenic	rs2125159710, rs2093873570, rs2125201841, rs797044955, rs869312685, rs886039392, rs121912425, rs1559718601, rs1559603328	RCV001729945 RCV001733872 RCV005624173 RCV003152595 RCV000209834 RCV000850563 RCV000015924 RCV002311994 RCV001334024	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar ataxia type 29	Likely pathogenic; Pathogenic	rs2125159664, rs1443276640, rs2106494596, rs2125272771, rs2125193560, rs797044955, rs863224882, rs752281590, rs869312685, rs1114167316, rs886039392, rs1131691919, rs397514536, rs1322796318, rs1553756062, rs1553758021, rs1559718601, rs1559603328, rs2093873520, rs2093873717	RCV001647136 RCV001647137 RCV001358673 RCV001591749 RCV001706847 RCV000677366 RCV000198932 RCV001542744 RCV000235044 RCV000491057 RCV000677359 RCV005255512 RCV000032772 RCV000677356 RCV000677360 RCV001644763 RCV002311994 RCV002249433 RCV004586923 RCV003447578 RCV005410930	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANIRIDIA CEREBELLAR ATAXIA MENTAL DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME	—	ClinGen, Orphanet ClinGen, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical behavior	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant cerebellar ataxia	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITPR1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITPR1-related syndromic and non-syndromic hereditary ataxias	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple sclerosis	Benign; Likely benign	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive gait ataxia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Slurred speech	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPINOCEREBELLAR ATAXIA 15	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 29	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	3455845		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31248019		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33213512	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30778698	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31557446		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aniridia cerebellar ataxia mental deficiency	Aniridia-cerebellar ataxia-intellectual disability syndrome	Pubtator	27108797, 28698159, 30249237, 33949769, 35118825, 35743164, 37705153	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia-cerebellar ataxia-intellectual disability syndrome	Aniridia, Cerebellar Ataxia, And Mental Retardation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anomalous pulmonary artery	Anomalous Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28365690		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27916586		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	21555639, 28698159, 29196976, 29925855, 36233161, 37821226	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	12828938, 15895559, 17932120, 18579805, 19423733, 20082166, 20437544, 20669319, 21382133, 21555639, 21689634, 21827915, 22318346, 22986007, 26827887, 27862915, 28554312, 28620721, 29196976		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	12828938, 14981189, 17590087		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28365690		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	12133531		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32807774	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26393489		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	32499604	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	38072953	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23681227		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	16691292, 8115665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16691292, 8115665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15608674		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	23535729, 25751625, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	25620657, 28072864, 29330143, 31706846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32649310, 35328381, 37391438	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33742056, 35313846	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15608674		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	21555639, 22986007, 28698159, 29186133	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebellar atrophy	Cerebellar atrophy	BEFREE	18579805, 21367767, 28698159		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	28698159, 35743164, 36233161	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	15623688, 27862915, 28488678		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	35743164, 36305856	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24768714		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29196976, 33942972	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31683484		★☆☆☆☆ Found in Text Mining only
Congenital cerebellar ataxia	Congenital Cerebellar Ataxia	BEFREE	28698159		★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	27862915		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22701570, 9476544		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19760623		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	25228769		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	20615908		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	27108798		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33168985	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15524175, 28333380		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15524175, 28333380		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	GWASCAT_DG	26305897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	24768714		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	21382133		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	23157623		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	25069764	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	30950126		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35611939, 35839283	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	20332427, 26439382, 27184076		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	15940696		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gillespie syndrome	Gillespie Syndrome	GENOMICS_ENGLAND_DG	22986007, 27108797, 27108798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gillespie syndrome	Gillespie Syndrome	CLINVAR_DG	27062503, 29169895, 29663667, 29925855		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gillespie syndrome	Gillespie Syndrome	BEFREE	27108797, 27108798, 28698159, 29169895, 29663667, 30249237, 31340402, 31391379		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gillespie syndrome	Gillespie Syndrome	UNIPROT_DG	27108797, 27108798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gillespie syndrome	Gillespie Syndrome	ORPHANET_DG	27108797, 27108798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gillespie syndrome	Gillespie Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar syndrome	Pubtator	37821226	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22701570, 9476544		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	22701570	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	11839840, 31636353		★☆☆☆☆ Found in Text Mining only
Hepatorenal Syndrome	Hepatorenal Syndrome	BEFREE	20615908		★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	11839840		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15336977, 19193873, 21210219, 25201980		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	36902304	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	27908616		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	37705153	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28333380		★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	BEFREE	27108798, 28698159, 31391379		★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28492556		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21382133, 31683484		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31340402		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	37821226	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28492556		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30273839		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12813464, 24862448		★☆☆☆☆ Found in Text Mining only
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	BEFREE	30301590		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	3455845		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	36233161	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	23535729		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25620657, 28072864, 29330143, 31706846		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17199135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18772902, 25740420		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15608674		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24768714, 27068804, 27543313, 30999914		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28072864		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29568366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	30596980	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG	29663667		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11445634, 12611586, 14981189, 17030759, 17590087, 18579805, 21367767, 22986007, 23495097, 25574826, 25794864, 26770814, 27108798, 28488678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11445634, 12611586, 14981189, 17030759, 17590087, 18579805, 21367767, 22986007, 23495097, 25574826, 25794864, 26770814, 27108798, 28488678		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	23804750		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20395455		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24862448, 25297632		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27771899, 28620721		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11032874, 12161107		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11032874, 18579805, 19423733, 21689634, 22318346, 25201980		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37353812	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27771899		★☆☆☆☆ Found in Text Mining only
Plexiform leiomyoma	Plexiform leiomyoma	GWASCAT_DG	30194396		★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	27862915		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	3455845		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	20669319, 21367767, 21555639, 27908616		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18772902, 25740420		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15067324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17199135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25740420	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25297632		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	27039262	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	25740420	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37820992	Stimulate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	30778698	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	31636353		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	37301203	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 14	Spinocerebellar Ataxia	BEFREE	28554312		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 15	Spinocerebellar Ataxia	BEFREE	17590087, 20082166, 20669319, 27908616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 15	Spinocerebellar Ataxia	UNIPROT_DG	17590087, 18579805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 15	Spinocerebellar Ataxia	CLINVAR_DG	18579805, 27062503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia 15	Spinocerebellar ataxia	Pubtator	21555639, 22986007, 37705153	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 15	Spinocerebellar Ataxia	CTD_human_DG	22986007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 15	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	27108797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 15	Spinocerebellar Ataxia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 29	Spinocerebellar Ataxia	BEFREE	15940696, 22986007, 25794864, 28620721, 28659154, 29925855		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 29	Spinocerebellar Ataxia	CTD_human_DG	22986007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 29	Spinocerebellar Ataxia	ORPHANET_DG	22986007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 29	Spinocerebellar Ataxia	UNIPROT_DG	22986007, 26770814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia 29	Spinocerebellar ataxia	Pubtator	22986007, 29196976, 29925855, 30429331, 37705153, 37821226	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 29	Spinocerebellar Ataxia	CLINVAR_DG	26257172, 27062503, 28659154, 29925855		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 29	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	27108797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 15/16	Spinocerebellar Ataxia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar ataxia type 15/16	Spinocerebellar Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	26868665		★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia type 29	Spinocerebellar Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	Spinocerebellar Ataxia	BEFREE	30301590		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	35743164, 37301203, 37821226, 39456985	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33227411	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	35459137	Associate	★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	26393489		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	GWASCAT_DG	30194396		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	36157881	Associate	★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome 1	Wolfram Syndrome	BEFREE	27434582		★☆☆☆☆ Found in Text Mining only