SPG11 (SPG11 vesicle trafficking associated, spatacsin)

Gene

• Entrez ID: 80208
• Gene name: SPG11 vesicle trafficking associated, spatacsin
• Gene symbol: SPG11
• Synonyms (NCBI Gene): ALS5, CMT2X, KIAA1840
• Chromosome: 15
• Chromosome location: 15q21.1
• Summary: The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338869	G>A,C,T	Benign, pathogenic	Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant
rs114945876	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs118203963	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant, intron variant
rs138103656	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant, genic downstream transcript variant
rs139334167	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs139532029	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs140385286	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs140824939	T>C,G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs141263564	T>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs141818132	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs141848292	G>A	Pathogenic	Downstream transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs144165094	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs145132275	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs147550048	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, intron variant
rs147713329	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, missense variant, stop gained, genic downstream transcript variant, intron variant, coding sequence variant
rs150761878	C>A,G	Likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs199588440	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs200220848	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs200793464	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs201689565	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs267607084	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262709	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262710	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262711	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262712	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262713	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262714	AATGAGCTTTTGCAATGCCTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, inframe deletion
rs312262715	C>G,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs312262716	AATAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262717	A>-,AA	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262718	AA>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262719	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262720	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262721	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs312262722	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262723	G>A,C	Pathogenic-likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, stop gained
rs312262724	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262725	->T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262726	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs312262727	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262728	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262729	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262731	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262732	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262733	AGTGATCAAACTGAT>TGGGAGTA	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262734	ACTT>-	Likely-pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, non coding transcript variant, splice donor variant
rs312262735	->T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs312262736	CA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs312262737	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs312262738	->A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs312262739	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs312262740	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs312262741	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs312262742	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs312262743	C>G,T	Pathogenic	Splice donor variant
rs312262744	->A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs312262745	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs312262746	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs312262747	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs312262748	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs312262749	C>A	Likely-pathogenic	Splice donor variant
rs312262750	->C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs312262752	T>-,TT	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs312262753	C>A	Pathogenic	Splice donor variant
rs312262754	TA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs312262755	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs312262756	TA>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs312262757	->T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs312262758	A>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs312262759	TT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs312262761	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs312262762	G>A	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs312262763	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs312262764	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262765	ATCT>CTCCTCCA	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs312262766	CA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs312262767	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs312262768	TG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262769	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262770	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262771	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262772	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs312262773	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs312262774	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs312262775	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs312262776	CAGA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs312262777	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs312262778	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs312262779	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262780	T>C	Pathogenic	Genic downstream transcript variant, intron variant
rs312262781	CAAT>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262782	CTCA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262783	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262784	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262785	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs312262786	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262787	->CCT	Pathogenic	Genic downstream transcript variant, intron variant
rs312262788	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262789	->TTAA	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs312262790	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs368276916	C>A,G	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs371334506	A>C,G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs372906057	C>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs567932275	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, 5 prime UTR variant
rs587777921	CA>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs746971952	CTTT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs747220413	CTGTTACGAG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs749652788	->TTCCAGGTTA	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, intron variant
rs750663981	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs753257469	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs753920931	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs756103019	->T	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs758015273	ACAAAA>-,A	Pathogenic	Frameshift variant, non coding transcript variant, inframe deletion, genic upstream transcript variant, coding sequence variant
rs760618394	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs760659950	C>A,T	Pathogenic	Missense variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs762984907	A>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs764186203	->CA	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs765061840	G>A	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs765477482	G>T	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs767798272	->GGGA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs768131119	AACA>-	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs769898852	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs771057519	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs771558571	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs771813705	G>A	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs773773579	->AA	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs779268551	T>-,TT	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs779321661	->CAGATCCTCC	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs780301639	CA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204176	G>T	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs863224524	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs863225439	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs863225440	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs866400911	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs879255274	C>T	Pathogenic	Intron variant
rs886819382	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained, missense variant
rs1057518874	C>A	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1060499768	T>-	Pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1060501168	C>A	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1060501173	G>A	Pathogenic, likely-pathogenic	Intron variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1060501174	C>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1060501176	A>C,T	Pathogenic	Stop gained, 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs1064795062	->A	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1064797055	T>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1085307097	G>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1215058780	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1220982145	AA>-,A	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, frameshift variant
rs1234882277	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1323156960	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1362530862	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1366914385	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1405032433	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1462607878	A>T	Pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1470463921	->A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1555446712	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555447432	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555447459	GT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555448810	->T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, frameshift variant
rs1555450825	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555451152	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555451417	TGTTGCTGAATGCTGTTCC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555451491	->A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1555451983	A>T	Pathogenic	Splice donor variant
rs1555453727	->CATTGTAG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555454488	A>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1555454508	GTA>ATC	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1555455246	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1555456457	T>A	Pathogenic	Splice acceptor variant
rs1566838168	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1567129475	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1567138536	TCGAGAAAATCTG>-	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567148391	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, splice donor variant
rs1595817021	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1595817498	GGTTACCTTGGCATAACTCTCTGCTG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, splice donor variant, intron variant
rs1595842556	->A	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1595878941	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1595888828	ATAACATCAACAGTCAGAA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1595898030	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant
rs1595898055	->TC	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595898078	->GGGACATTTTCATG	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595935001	TTAAG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1595938132	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1595940058	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1595940106	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1595945569	->TG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030959	hsa-miR-21-5p	Microarray	18591254
MIRT050465	hsa-miR-22-3p	CLASH	23622248
MIRT1383753	hsa-miR-101	CLIP-seq
MIRT1383754	hsa-miR-3156-5p	CLIP-seq
MIRT1383755	hsa-miR-4445	CLIP-seq
MIRT1383756	hsa-miR-4655-5p	CLIP-seq
MIRT1383757	hsa-miR-4659a-3p	CLIP-seq
MIRT1383758	hsa-miR-4659b-3p	CLIP-seq
MIRT1383759	hsa-miR-4766-3p	CLIP-seq
MIRT1383760	hsa-miR-4778-3p	CLIP-seq
MIRT1383761	hsa-miR-515-5p	CLIP-seq
MIRT1383762	hsa-miR-548p	CLIP-seq
MIRT1383763	hsa-miR-586	CLIP-seq
MIRT1383764	hsa-miR-942	CLIP-seq
MIRT1383753	hsa-miR-101	CLIP-seq
MIRT1383765	hsa-miR-144	CLIP-seq
MIRT1383766	hsa-miR-190	CLIP-seq
MIRT1383767	hsa-miR-190b	CLIP-seq
MIRT1383755	hsa-miR-4445	CLIP-seq
MIRT1383756	hsa-miR-4655-5p	CLIP-seq
MIRT2114876	hsa-miR-1200	CLIP-seq
MIRT2114877	hsa-miR-3125	CLIP-seq
MIRT2114878	hsa-miR-3915	CLIP-seq
MIRT2114879	hsa-miR-3916	CLIP-seq
MIRT2114880	hsa-miR-3928	CLIP-seq
MIRT2114881	hsa-miR-4324	CLIP-seq
MIRT2114882	hsa-miR-544b	CLIP-seq
MIRT2114876	hsa-miR-1200	CLIP-seq
MIRT2337583	hsa-miR-200b	CLIP-seq
MIRT2337584	hsa-miR-200c	CLIP-seq
MIRT2114877	hsa-miR-3125	CLIP-seq
MIRT2337585	hsa-miR-3140-3p	CLIP-seq
MIRT2337586	hsa-miR-374c	CLIP-seq
MIRT2114878	hsa-miR-3915	CLIP-seq
MIRT2114879	hsa-miR-3916	CLIP-seq
MIRT2114880	hsa-miR-3928	CLIP-seq
MIRT2337587	hsa-miR-429	CLIP-seq
MIRT2114881	hsa-miR-4324	CLIP-seq
MIRT2114882	hsa-miR-544b	CLIP-seq
MIRT2337588	hsa-miR-655	CLIP-seq
MIRT1383753	hsa-miR-101	CLIP-seq
MIRT2631132	hsa-miR-1184	CLIP-seq
MIRT2114876	hsa-miR-1200	CLIP-seq
MIRT2631133	hsa-miR-1205	CLIP-seq
MIRT1383765	hsa-miR-144	CLIP-seq
MIRT1383766	hsa-miR-190	CLIP-seq
MIRT1383767	hsa-miR-190b	CLIP-seq
MIRT2337583	hsa-miR-200b	CLIP-seq
MIRT2337584	hsa-miR-200c	CLIP-seq
MIRT2114877	hsa-miR-3125	CLIP-seq
MIRT2337585	hsa-miR-3140-3p	CLIP-seq
MIRT1383754	hsa-miR-3156-5p	CLIP-seq
MIRT2631134	hsa-miR-3158-5p	CLIP-seq
MIRT2631135	hsa-miR-3665	CLIP-seq
MIRT2337586	hsa-miR-374c	CLIP-seq
MIRT2114878	hsa-miR-3915	CLIP-seq
MIRT2114879	hsa-miR-3916	CLIP-seq
MIRT2631136	hsa-miR-3923	CLIP-seq
MIRT2114880	hsa-miR-3928	CLIP-seq
MIRT2337587	hsa-miR-429	CLIP-seq
MIRT2114881	hsa-miR-4324	CLIP-seq
MIRT1383755	hsa-miR-4445	CLIP-seq
MIRT2631137	hsa-miR-4509	CLIP-seq
MIRT2631138	hsa-miR-4528	CLIP-seq
MIRT1383756	hsa-miR-4655-5p	CLIP-seq
MIRT1383757	hsa-miR-4659a-3p	CLIP-seq
MIRT1383758	hsa-miR-4659b-3p	CLIP-seq
MIRT2631139	hsa-miR-4678	CLIP-seq
MIRT2631140	hsa-miR-4686	CLIP-seq
MIRT2631141	hsa-miR-4738-3p	CLIP-seq
MIRT2631142	hsa-miR-4744	CLIP-seq
MIRT1383759	hsa-miR-4766-3p	CLIP-seq
MIRT1383760	hsa-miR-4778-3p	CLIP-seq
MIRT1383761	hsa-miR-515-5p	CLIP-seq
MIRT2114882	hsa-miR-544b	CLIP-seq
MIRT2631143	hsa-miR-548a-5p	CLIP-seq
MIRT2631144	hsa-miR-548ab	CLIP-seq
MIRT2631145	hsa-miR-548ak	CLIP-seq
MIRT2631146	hsa-miR-548b-5p	CLIP-seq
MIRT2631147	hsa-miR-548c-5p	CLIP-seq
MIRT2631148	hsa-miR-548d-5p	CLIP-seq
MIRT2631149	hsa-miR-548h	CLIP-seq
MIRT2631150	hsa-miR-548i	CLIP-seq
MIRT2631151	hsa-miR-548j	CLIP-seq
MIRT2631152	hsa-miR-548k	CLIP-seq
MIRT2631153	hsa-miR-548l	CLIP-seq
MIRT1383762	hsa-miR-548p	CLIP-seq
MIRT2631154	hsa-miR-548w	CLIP-seq
MIRT2631155	hsa-miR-548y	CLIP-seq
MIRT2631156	hsa-miR-552	CLIP-seq
MIRT2631157	hsa-miR-559	CLIP-seq
MIRT1383763	hsa-miR-586	CLIP-seq
MIRT2631158	hsa-miR-630	CLIP-seq
MIRT2337588	hsa-miR-655	CLIP-seq
MIRT2631159	hsa-miR-657	CLIP-seq
MIRT1383764	hsa-miR-942	CLIP-seq
MIRT1383753	hsa-miR-101	CLIP-seq
MIRT1383765	hsa-miR-144	CLIP-seq
MIRT1383766	hsa-miR-190	CLIP-seq
MIRT1383767	hsa-miR-190b	CLIP-seq
MIRT1383754	hsa-miR-3156-5p	CLIP-seq
MIRT1383755	hsa-miR-4445	CLIP-seq
MIRT1383756	hsa-miR-4655-5p	CLIP-seq
MIRT1383757	hsa-miR-4659a-3p	CLIP-seq
MIRT1383758	hsa-miR-4659b-3p	CLIP-seq
MIRT1383759	hsa-miR-4766-3p	CLIP-seq
MIRT1383760	hsa-miR-4778-3p	CLIP-seq
MIRT1383761	hsa-miR-515-5p	CLIP-seq
MIRT1383762	hsa-miR-548p	CLIP-seq
MIRT1383763	hsa-miR-586	CLIP-seq
MIRT1383764	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20613862, 25416956, 29949766, 36096339, 37871017
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	21545838
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0007040	Process	Lysosome organization	IDA	25365221
GO:0007040	Process	Lysosome organization	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IMP	24794856
GO:0007409	Process	Axonogenesis	IBA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007613	Process	Memory	IEA
GO:0008088	Process	Axo-dendritic transport	IBA
GO:0008088	Process	Axo-dendritic transport	IEA
GO:0008088	Process	Axo-dendritic transport	IMP	24794856
GO:0008104	Process	Intracellular protein localization	IEA
GO:0019901	Function	Protein kinase binding	IDA	25365221
GO:0021957	Process	Corticospinal tract morphogenesis	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	21545838
GO:0033344	Process	Cholesterol efflux	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IDA	24794856
GO:0045202	Component	Synapse	IEA
GO:0047496	Process	Vesicle transport along microtubule	IEA
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0048489	Process	Synaptic vesicle transport	IMP	24794856
GO:0048675	Process	Axon extension	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051668	Process	Localization within membrane	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0090389	Process	Phagosome-lysosome fusion involved in apoptotic cell clearance	IEA
GO:0090659	Process	Walking behavior	IEA
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:1905037	Process	Autophagosome organization	IDA	25365221
GO:2001256	Process	Regulation of store-operated calcium entry	IEA

Other IDs

• MIM: 610844
• HGNC: 11226
• e!Ensembl: ENSG00000104133

Protein

• UniProt ID: Q96JI7
• Protein name: Spatacsin (Colorectal carcinoma-associated protein) (Spastic paraplegia 11 protein)
• Protein function: May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14649	Spatacsin_C	2085 → 2387	Spatacsin C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all structures of brain, with a high expression in cerebellum. Expressed in cortical projection neurons. {ECO:0000269|PubMed:17322883, ECO:0000269|PubMed:24794856}.
• Sequence:

  MAAEEGVASAASAGGSWGTAAMGRVLPMLLVPVPAEAMGQLGSRAQLRTQPEALGSLTAA
  GSLQVLSLTPGSRGGGRCCLEGPFWHFLWEDSRNSSTPTEKPKLLALGENYELLIYEFNL
  KDGRCDATILYSCSREALQKLIDDQDISISLLSLRILSFHNNTSLLFINKCVILHIIFPE
  RDAAIRVLNCFTLPLPAQAVDMIIDTQLCRGILFVLSSLGWIYIFDVVDGTYVAHVDLAL
  HKEDMCNEQQQEPAKISSFTSLKVSQDLDVAVIVSSSNSAVALNLNLYFRQHPGHLLCER
  ILEDLPIQGPKGVDEDDPVNSAYNMKLAKFSFQIDRSWKAQLSSLNETIKNSKLEVSCCA
  PWFQDILHLESPESGNHSTSVQSWAFIPQDIMHGQYNVLQKDHAKTSDPGRSWKIMHISE
  QEEPIELKCVSVTGFTALFTWEVERMGYTITLWDLETQGMQCFSLGTKCIPVDSSGDQQL
  CFVLTENGLSLILFGLTQEEFLNRLMIHGSASTVDTLCHLNGWGRCSIPIHALEAGIENR
  QLDTVNFFLKSKENLFNPSSKSSVSDQFDHLSSHLYLRNVEELIPALDLLCSAIRESYSE
  PQSKHFSEQLLNLTLSFLNNQIKELFIHTEELDEHLQKGVNILTSYINELRTFMIKFPWK
  LTDAIDEYDVHENVPKVKESNIWKKLSFEEVIASAILNNKIPEAQTFFRIDSHSAQKLEE
  LIGIGLNLVFDNLKKNNIKEASELLKNMGFDVKGQLLKICFYTTNKNIRDFLVEILKEKN
  YFSEKEKRTIDFVHQVEKLYLGHFQENMQIQSFPRYWIKEQDFFKHKSVLDSFLKYDCKD
  EFNKQDHRIVLNWALWWDQLTQESILLPRISPEEYKSYSPEALWRYLTARHDWLNIILWI
  GEFQTQHSYASLQQNKWPLLTVDVINQNTSCNNYMRNEILDKLARNGVFLASELEDFECF
  LLRLSRIGGVIQDTLPVQNYKTKEGWDFHSQFILYCLEHSLQHLLYVYLDCYKLSPENCP
  FLEKKELHEAHPWFEFLVQCRQVASNLTDPKLIFQASLANAQILIPTNQASVSSMLLEGH
  TLLALATTMYSPGGVSQVVQNEENENCLKKVDPQLLKMALTPYPKLKTALFPQCTPPSVL
  PSDITIYHLIQSLSPFDPSRLFGWQSANTLAIGDAWSHLPHFSSPDLVNKYAIVERLNFA
  YYLHNGRPSFAFGTFLVQELIKSKTPKQLIQQVGNEAYVIGLSSFHIPSIGAACVCFLEL
  LGLDSLKLRVDMKVANIILSYKCRNEDAQYSFIRESVAEKLSKLADGEKTTTEELLVLLE
  EGTWNSIQQQEIKRLSSESSSQWALVVQFCRLHNMKLSISYLRECAKANDWLQFIIHSQL
  HNYHPAEVKSLIQYFSPVIQDHLRLAFENLPSVPTSKMDSDQVCNKCPQELQGSKQEMTD
  LFEILLQCSEEPDSWHWLLVEAVKQQAPILSVLASCLQGASAISCLCVWIITSVEDNVAT
  EAMGHIQDSTEDHTWNLEDLSVIWRTLLTRQKSKTLIRGFQLFFKDSPLLLVMEMYELCM
  FFRNYKEAEAKLLEFQKSLETLNTAATKVHPVIPAMWLEDQVCFLLKLMLQQCKTQYELG
  KLLQLFVEREHLFSDGPDVKKLCILCQILKDTSIAINHTIITSYSIENLQHECRSILERL
  QTDGQFALARRVAELAELPVDNLVIKEITQEMQTLKHIEQWSLKQARIDFWKKCHENFKK
  NSISSKAASSFFSTQAHVACEHPTGWSSMEERHLLLTLAGHWLAQEDVVPLDKLEELEKQ
  IWLCRITQHTLGRNQEETEPRFSRQISTSGELSFDSLASEFSFSKLAALNTSKYLELNSL
  PSKETCENRLDWKEQESLNFLIGRLLDDGCVHEASRVCRYFHFYNPDVALVLHCRALASG
  EASMEDLHPEIHALLQSAELLEEEAPDIPLRRVHSTSSLDSQKFVTVPSSNEVVTNLEVL
  TSKCLHGKNYCRQVLCLYDLAKELGCSYTDVAAQDGEAMLRKILASQQPDRCKRAQAFIS
  TQGLKPDTVAELVAEEVTRELLTSSQGTGHKQMFNPTEESQTFLQLTTLCQDRTLVGMKL
  LDKISSVPHGELSCTTELLILAHHCFTLTCHMEGIIRVLQAAHMLTDNHLAPSEEYGLVV
  RLLTGIGRYNEMTYIFDLLHKKHYFEVLMRKKLDPSGTLKTALLDYIKRCRPGDSEKHNM
  IALCFSMCREIGENHEAAARIQLKLIESQPWEDSLKDGHQLKQLLLKALTLMLDAAESYA
  KDSCVRQAQHCQRLTKLITLQIHFLNTGQNTMLINLGRHKLMDCILALPRFYQASIVAEA
  YDFVPDWAEILYQQVILKGDFNYLEEFKQQRLLKSSIFEEISKKYKQHQPTDMVMENLKK
  LLTYCEDVYLYYKLAYEHKFYEIVNVLLKDPQTGCCLKDMLAG

• Sequence length: 2443

Pathways

KEGG:

Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

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
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs1060499768	RCV000454217	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal central motor function	Pathogenic; Likely pathogenic	rs1268815918, rs2140920947, rs2082710048, rs2140946934, rs1459810136	RCV001814414 RCV001814572 RCV001814506 RCV001814395 RCV001814571	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenocortical carcinoma, hereditary	Likely pathogenic	rs2505582928	RCV005931534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis	Likely pathogenic; Pathogenic	rs201689565	RCV003105892	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 5	Likely pathogenic; Pathogenic	rs1459810136, rs781665076, rs118203963, rs267607084, rs312262720, rs141848292, rs312262752, rs2505601720, rs2082470151, rs2505369754, rs765061840, rs312262725, rs765557765, rs780301639, rs2505725884, rs2505289556, rs2505482825, rs2505300947, rs2505710044, rs372670941, rs201689565, rs778305085, rs768131119, rs756103019, rs1362530862, rs750663981, rs140385286, rs312262722, rs312262723, rs312262726, rs312262727, rs312262739, rs312262709, rs312262747, rs312262748, rs312262749, rs587777921, rs200793464, rs312262774, rs312262776, rs312262775, rs147713329, rs312262781, rs312262782, rs312262788, rs312262719, rs312262764, rs1555447459, rs746971952, rs372906057, rs368276916, rs747220413, rs141263564, rs773773579, rs769898852, rs1555451521, rs779268551, rs750101275, rs771346977, rs2083790483, rs1303294230, rs1226110412, rs1422477670, rs765725393, rs756134516, rs1470463921	RCV002501872 RCV005008389 RCV005007805 RCV000193032 RCV000193699 RCV002482813 RCV001762029 RCV005008577 RCV005008596 RCV005010870 RCV005008177 RCV002487089 RCV005012821 RCV005013050 RCV005013058 RCV005013071 RCV005013088 RCV005013097 RCV005013125 RCV005010276 RCV005010315 RCV001095472 RCV005010395 RCV005010398 RCV005010510 RCV005010509 RCV000763352 RCV005007925 RCV005007926 RCV005007927 RCV005007928 RCV000192703 RCV000194703 RCV005007930 RCV005007931 RCV003458191 RCV002482948 RCV000194146 RCV005007933 RCV003483446 RCV002490454 RCV001331384 RCV002496511 RCV002490455 RCV000195138 RCV005007934 RCV005007935 RCV005010625 RCV003458203 RCV005010624 RCV000680108 RCV003333097 RCV003883160 RCV005010724 RCV005012290 RCV002249527 RCV000991453 RCV003483771 RCV002497457 RCV001095471 RCV001095470 RCV001095432 RCV005012652 RCV005012641 RCV005012705 RCV005012709	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral amyloid angiopathy, APP-related	Pathogenic	rs312262720	RCV005644468	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease axonal type 2X	Pathogenic; Likely pathogenic	rs2140971559, rs1459810136, rs781665076, rs118203963, rs312262716, rs267607084, rs312262720, rs141848292, rs312262752, rs2505601720, rs2082470151, rs863225439, rs863225440, rs2505369754, rs371334506, rs765061840, rs312262725, rs765557765, rs2505500550, rs780301639, rs2505725884, rs2505289556, rs2505482825, rs2505300947, rs2505710044, rs372670941, rs201689565, rs768131119, rs756103019, rs1362530862, rs750663981, rs140385286, rs312262722, rs312262723, rs312262726, rs312262727, rs199588440, rs312262737, rs312262709, rs312262747, rs312262748, rs312262749, rs312262753, rs312262759, rs587777921, rs312262770, rs312262774, rs312262776, rs312262775, rs312262781, rs312262782, rs312262785, rs312262719, rs312262764, rs1555447459, rs746971952, rs372906057, rs747220413, rs141263564, rs773773579, rs769898852, rs1220982145, rs779268551, rs750101275, rs771346977, rs1422477670, rs765725393, rs756134516, rs1470463921	RCV003483829 RCV002501872 RCV005008389 RCV000202373 RCV000202378 RCV000202382 RCV002288458 RCV002482813 RCV005007806 RCV005008577 RCV005008596 RCV000202374 RCV000202379 RCV005010870 RCV000224979 RCV000224985 RCV004767190 RCV005012821 RCV006444117 RCV005013050 RCV005013058 RCV005013071 RCV005013088 RCV005013097 RCV005013125 RCV005010276 RCV003483611 RCV005010395 RCV005010398 RCV005010510 RCV005010509 RCV000763352 RCV005007925 RCV005007926 RCV005007927 RCV005007928 RCV004767028 RCV001807747 RCV003883485 RCV005007930 RCV005007931 RCV005007932 RCV001270133 RCV004767029 RCV002482948 RCV002513334 RCV005007933 RCV003483446 RCV002490454 RCV002496511 RCV002490455 RCV004767030 RCV005007934 RCV005007935 RCV005010625 RCV005010623 RCV005010624 RCV005010676 RCV003883160 RCV005010724 RCV005012290 RCV004768663 RCV000991453 RCV003483771 RCV002497457 RCV005012652 RCV005012641 RCV005012705 RCV005012709	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Difficulty walking	Likely pathogenic; Pathogenic	rs201689565	RCV000414944	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset Parkinson disease 20	Likely pathogenic; Pathogenic	rs141263564	RCV003447554	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gait disturbance	Likely pathogenic; Pathogenic	rs201689565	RCV000414944	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hyperreflexia	Likely pathogenic; Pathogenic	rs201689565	RCV000414944	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary neuropathy or pain disorder	Pathogenic	rs312262755	RCV005865208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs2082503070, rs2141105806, rs2141027825, rs2141130246, rs2083566245, rs1304713296, rs2140921013, rs312262720, rs312262715, rs2505177370, rs2505601687, rs312262725, rs80338869, rs764647588, rs1191614292, rs1473836469, rs1454768655, rs201689565, rs1064795062, rs749652788, rs753920931, rs750663981, rs763224175, rs140385286, rs312262726, rs199588440, rs312262740, rs312262745, rs312262747, rs1470463921, rs312262714, rs312262759, rs312262770, rs312262775, rs147713329, rs312262784, rs312262785, rs312262787, rs312262764, rs372906057, rs141263564, rs1462607878, rs1555451521, rs758015273, rs1418873962, rs532072204, rs1303294230, rs2082842632	RCV001847257 RCV001848177 RCV001848186 RCV001848189 RCV001848191 RCV001848199 RCV001848201 RCV000515921 RCV004689398 RCV002470132 RCV002510280 RCV003486783 RCV003226857 RCV003230818 RCV003331948 RCV004801392 RCV003988492 RCV001848737 RCV003479137 RCV005056149 RCV004689788 RCV000824801 RCV003330809 RCV001848979 RCV001847631 RCV003317055 RCV001847632 RCV004799754 RCV003114210 RCV005237455 RCV003387737 RCV006263640 RCV001847634 RCV001847635 RCV001847636 RCV004017277 RCV001847638 RCV003323368 RCV001847641 RCV002282282 RCV001849059 RCV001849077 RCV005240614 RCV001849115 RCV002282435 RCV003155347 RCV002307685 RCV004782665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia 11	Likely pathogenic; Pathogenic	rs1268481547, rs2141056788, rs369467143, rs2140911376, rs2140911440, rs1439018038, rs2082503070, rs2082714895, rs959026057, rs2140969609, rs2140971559, rs1259332141, rs2140977221, rs2141056921, rs1268815918, rs1459810136, rs2140978326, rs1191614292, rs2140914403, rs2141027825, rs2141106935, rs2140911612, rs2140913822, rs2141107140, rs2141098660, rs2140920796, rs781665076, rs2140920898, rs2140982382, rs2141027919, rs2140978275, rs1060501174, rs2141107413, rs2140926873, rs2141121333, rs1337761270, rs2141011028, rs2141138493, rs1363959441, rs2141106403, rs780266075, rs2140923165, rs749705821, rs2140947703, rs2140976871, rs2140963289, rs2140927039, rs1555455266, rs1555447724, rs2141010951, rs370252831, rs2141014662, rs2141121011, rs1287370710, rs1157530441, rs2140947448, rs2140931516, rs2140928925, rs1454768655, rs1060501168, rs1339135039, rs2141138155, rs2141108180, rs118203963, rs312262716, rs267607084, rs312262720, rs312262744, rs312262715, rs200079802, rs141848292, rs312262752, rs2141027980, rs2082374687, rs2505557860, rs2505727696, rs1331584604, rs2505601720, rs2505177370, rs786204176, rs2505289183, rs2082470151, rs312262742, rs2505512094, rs2505324800, rs1555446712, rs2505581758, rs2505301578, rs1168371801, rs2505595870, rs2505710985, rs2505601687, rs770761140, rs1038146319, rs762381405, rs1295595912, rs1169800424, rs1060499768, rs1440947266, rs2505221112, rs2505726481, rs1435037360, rs2505362765, rs1442912535, rs762984907, rs863224524, rs2505795420, rs2505628295, rs863225439, rs863225440, rs2505369754, rs2083566245, rs2505301305, rs1482197593, rs2505759097, rs1085307097, rs371334506, rs765061840, rs2505291205, rs2505173672, rs312262725, rs879255274, rs2505293700, rs2505542496, rs2505724567, rs765557765, rs2505172270, rs764647588, rs2505369647, rs2505448181, rs2505501329, rs2083377690, rs2505395070, rs2505229373, rs111583187, rs2505543230, rs2505300929, rs2505596751, rs2505758285, rs933508115, rs2505464687, rs2505290776, rs2505293484, rs2505378199, rs2505378271, rs2505221225, rs312262749, rs2505582348, rs994177395, rs185665930, rs780692790, rs2505205547, rs763855058, rs2082272257, rs1567127243, rs2505301156, rs2505500550, rs2505563283, rs1555381616, rs2505481566, rs2505293828, rs2505759290, rs2505290665, rs2505378945, rs2505447228, rs2505396790, rs2505724394, rs2505390134, rs2505775333, rs780301639, rs2082716347, rs2505324454, rs2505725884, rs2505324090, rs2505629437, rs2505582928, rs2505206459, rs2505239376, rs2505289556, rs2505324758, rs2505768771, rs1171509531, rs2505289244, rs2505601524, rs2505176651, rs2083161760, rs2505775671, rs2505300845, rs2505342376, rs146098780, rs2505558024, rs2505324938, rs2505482825, rs2505501210, rs1310672924, rs2505711019, rs2505513004, rs2505324418, rs2505553093, rs2505541486, rs2505162652, rs2085183291, rs2505300947, rs772359178, rs2505581382, rs2505229607, rs2505229934, rs2505238309, rs2505325601, rs2505512946, rs2083161364, rs2505501450, rs2505501053, rs1476614745, rs2505302482, rs2505558480, rs570599267, rs2505710044, rs2505396686, rs1204013415, rs2505396805, rs764805516, rs779268551, rs772441925, rs2505361735, rs2505370912, rs1473836469, rs370259531, rs2505221578, rs2505728928, rs2505239464, rs1032475686, rs2505289475, rs1432604396, rs2505197931, rs2082715392, rs1567131767, rs2505377793, rs756786583, rs2505543171, rs886051179, rs372670941, rs1555451163, rs201689565, rs778305085, rs767798272, rs1060501176, rs1060501173, rs760618394, rs1555448810, rs779321661, rs1064797055, rs1064795062, rs768131119, rs756103019, rs1234882277, rs1366914385, rs1555454488, rs765477482, rs1555455246, rs1555446078, rs749652788, rs753920931, rs1362530862, rs750663981, rs763224175, rs140385286, rs753257469, rs1215058780, rs312262722, rs312262723, rs312262726, rs312262727, rs312262730, rs312262732, rs312262734, rs312262735, rs199588440, rs312262737, rs312262738, rs312262739, rs312262740, rs312262741, rs312262743, rs312262745, rs312262709, rs312262747, rs312262748, rs312262750, rs1470463921, rs312262753, rs312262711, rs312262755, rs312262757, rs312262714, rs312262759, rs587777921, rs312262762, rs312262763, rs312262765, rs312262766, rs312262767, rs312262769, rs312262770, rs200793464, rs312262774, rs312262776, rs312262775, rs312262777, rs147713329, rs312262778, rs312262717, rs312262779, rs312262781, rs312262782, rs312262784, rs312262785, rs312262787, rs312262788, rs312262719, rs312262791, rs312262721, rs312262764, rs312262728, rs1555454508, rs1555447459, rs1323156960, rs746971952, rs372906057, rs1555447432, rs771057519, rs368276916, rs1567138536, rs138103656, rs747220413, rs141263564, rs1567129475, rs1462607878, rs773773579, rs771558571, rs769898852, rs764186203, rs866400911, rs1405032433, rs1555451521, rs1595878941, rs771813705, rs1595898055, rs1220982145, rs758015273, rs760659950, rs1595935001, rs1595938132, rs1595817498, rs1555450825, rs1595817021, rs1567148391, rs1595898030, rs1595898078, rs1595940058, rs1595940106, rs1595842556, rs1567123492, rs1418873962, rs2082844329, rs2083058016, rs750101275, rs2084787275, rs2083509815, rs532072204, rs771346977, rs2082751022, rs956922949, rs957519261, rs1303294230, rs2082842632, rs1470512931, rs2082333064, rs2082702986, rs2082923260, rs1422477670, rs1397432412, rs746329317, rs2083036101, rs765725393, rs2082401685, rs2082843264, rs2083989142, rs753650233, rs2082272406, rs756134516, rs2140928964, rs1277084672, rs2140971667, rs2140972000, rs2140973951, rs1595865855, rs2140999428, rs761896412, rs2141029118, rs2141106328, rs2141106983	RCV001378377 RCV001379519 RCV001383613 RCV001388967 RCV001385025 RCV001383125 RCV001390082 RCV001387852 RCV001384570 RCV001385556 RCV001384631 RCV001382827 RCV001389073 RCV001380016 RCV002570637 RCV002501872 RCV001542688 RCV003600419 RCV001806432 RCV005253899 RCV001872136 RCV001985791 RCV001985798 RCV001939378 RCV001941780 RCV002033719 RCV002012964 RCV001985280 RCV001967408 RCV001949240 RCV001953908 RCV001976351 RCV002022588 RCV002020357 RCV002012180 RCV002025794 RCV002007274 RCV001993295 RCV001926930 RCV002037875 RCV002021922 RCV001994656 RCV001880389 RCV001960494 RCV002049962 RCV001946942 RCV001953455 RCV001883038 RCV001946848 RCV001946578 RCV001946663 RCV001879364 RCV001927628 RCV001931635 RCV001949477 RCV001956077 RCV001875554 RCV001899004 RCV001963249 RCV001883946 RCV001963105 RCV001981585 RCV001956471 RCV001911855 RCV000001168 RCV000001169 RCV000001170 RCV000001171 RCV000001172 RCV000001173 RCV000001174 RCV000001175 RCV000001176 RCV002221423 RCV003495263 RCV002284298 RCV003120907 RCV003098482 RCV005008577 RCV005098448 RCV000168213 RCV002471676 RCV002471726 RCV002471780 RCV002472070 RCV002571534 RCV002509888 RCV003060706 RCV003041225 RCV003072629 RCV003095358 RCV003080397 RCV003600442 RCV003117876 RCV003112105 RCV002586830 RCV002630278 RCV002771412 RCV002796927 RCV002861686 RCV002853427 RCV002876892 RCV002852951 RCV002857694 RCV002959154 RCV000196229 RCV000196838 RCV002963423 RCV002994312 RCV000989299 RCV000989303 RCV005010870 RCV003034495 RCV003043112 RCV003043855 RCV003056156 RCV000490287 RCV000706352 RCV000757917 RCV003156408 RCV003158013 RCV000227208 RCV002518741 RCV003388206 RCV003388207 RCV003388208 RCV005012821 RCV003230256 RCV003495329 RCV003326193 RCV003335798 RCV003340836 RCV003337719 RCV003337785 RCV003388244 RCV003388652 RCV003389135 RCV003495505 RCV003495542 RCV003496145 RCV003496202 RCV003495532 RCV003496084 RCV003495514 RCV003495563 RCV003496482 RCV003496316 RCV003496411 RCV003496459 RCV003496452 RCV003497031 RCV003497036 RCV003497183 RCV003497313 RCV003497279 RCV003494686 RCV003494687 RCV003494688 RCV003494689 RCV003494690 RCV003494691 RCV003494692 RCV003495079 RCV003494960 RCV003494882 RCV003495053 RCV003495055 RCV003495578 RCV003495062 RCV003495591 RCV003495719 RCV003495656 RCV003495773 RCV003495874 RCV003496562 RCV003496607 RCV003496611 RCV003496592 RCV003496039 RCV003600607 RCV003600668 RCV003600535 RCV003600536 RCV003600537 RCV003600538 RCV003600544 RCV003600485 RCV003600679 RCV003600715 RCV003600765 RCV003600682 RCV003601414 RCV003601503 RCV003601475 RCV003601489 RCV003601532 RCV003602050 RCV003601623 RCV003601735 RCV003601794 RCV003601840 RCV003601841 RCV003601817 RCV003602054 RCV003602147 RCV003602263 RCV003602296 RCV003602418 RCV003602519 RCV003602367 RCV003602485 RCV003599910 RCV003599937 RCV003599992 RCV003599886 RCV003599952 RCV003600007 RCV003600081 RCV003600255 RCV003600251 RCV003600337 RCV003600940 RCV003601077 RCV003601137 RCV003601179 RCV003601204 RCV003601168 RCV003601295 RCV003601296 RCV003601297 RCV003811007 RCV003837854 RCV003837855 RCV003836395 RCV003834289 RCV003848693 RCV003859583 RCV003868927 RCV003855181 RCV003871738 RCV003867367 RCV003879662 RCV003878463 RCV000336954 RCV000310734 RCV004585151 RCV000801301 RCV000528304 RCV000686221 RCV000466467 RCV000473393 RCV000459100 RCV000457536 RCV000462168 RCV000471645 RCV001865495 RCV000534924 RCV003766728 RCV003766689 RCV001380570 RCV003495136 RCV001223427 RCV005056112 RCV003495144 RCV000541697 RCV000539735 RCV000535276 RCV000534660 RCV000542835 RCV000550739 RCV000549837 RCV000531209 RCV001391555 RCV000642546 RCV000642549 RCV001854123 RCV000034169 RCV000034170 RCV000034173 RCV000034174 RCV000034176 RCV000034180 RCV000034182 RCV000034183 RCV000034185 RCV000034186 RCV000034187 RCV000034188 RCV000034189 RCV000034190 RCV000034191 RCV000034194 RCV000034195 RCV000034198 RCV000034199 RCV000034200 RCV000034201 RCV000034202 RCV000034205 RCV000034207 RCV000034210 RCV000034212 RCV000034215 RCV000034216 RCV000034218 RCV000034220 RCV000034221 RCV000034223 RCV000034224 RCV000034225 RCV000034227 RCV000034228 RCV000034234 RCV000034235 RCV000034236 RCV000034237 RCV000034240 RCV000034241 RCV000034243 RCV000034244 RCV000034245 RCV000034248 RCV000034249 RCV000034252 RCV000034254 RCV000034256 RCV000034259 RCV000034260 RCV000034263 RCV000034268 RCV000034269 RCV000034301 RCV000625980 RCV000642564 RCV000642563 RCV000642545 RCV000642550 RCV000642571 RCV000656403 RCV003767896 RCV000680108 RCV000692085 RCV000690204 RCV000685354 RCV000694024 RCV000688949 RCV001861990 RCV001390243 RCV003495181 RCV001198712 RCV000779162 RCV000807733 RCV000809269 RCV000818278 RCV000805994 RCV000792523 RCV000811819 RCV000803388 RCV000814482 RCV000824220 RCV000800105 RCV000806657 RCV000808598 RCV000822685 RCV000984493 RCV000989300 RCV000989301 RCV000989302 RCV000989304 RCV000991453 RCV001004871 RCV001860597 RCV001046769 RCV001048204 RCV001038589 RCV001051794 RCV001062231 RCV001050015 RCV001040200 RCV001057142 RCV001064408 RCV001037871 RCV001041586 RCV001873456 RCV001862713 RCV002468150 RCV001197673 RCV001217446 RCV001208597 RCV001208596 RCV001208024 RCV001220084 RCV001233912 RCV001244849 RCV001247418 RCV001242891 RCV001226466 RCV001251040 RCV001251104 RCV001251103 RCV001255855 RCV002541625 RCV001386275 RCV001391628 RCV001391561 RCV001391560 RCV001391559 RCV001391558 RCV001391557 RCV001391556 RCV001391554 RCV001391553 RCV001391552 RCV001391551 RCV001391550 RCV001391549 RCV001391548	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile amyotrophic lateral sclerosis	Pathogenic; Likely pathogenic	rs2140971559, rs201689565	RCV003483829 RCV003483611	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metabolic disease	Pathogenic	rs312262785	RCV005624720	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraparesis	Likely pathogenic; Pathogenic	rs201689565	RCV000414944	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs2140923130, rs312262755	RCV001449676 RCV001391577	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPG11-related disorder	Pathogenic; Likely pathogenic	rs369467143, rs312262720, rs312262752, rs312262725, rs2505230282, rs956922949, rs2505229146, rs886051179, rs312262722, rs312262740, rs312262767, rs147713329, rs141263564, rs758015273	RCV003405631 RCV005867717 RCV004748491 RCV004748675 RCV003400244 RCV003400017 RCV003408514 RCV004748726 RCV003398591 RCV004748544 RCV005867812 RCV005229845 RCV003411614 RCV003413639	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPG11-related spastic paraplegia	Likely pathogenic; Pathogenic	rs312262776, rs2083311058	RCV001095781 RCV001095782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Likely pathogenic; Pathogenic	rs312262726	RCV005888918	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1476614745	RCV005934692	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 5	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis, type 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 20, EARLY-ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Recessive	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	33638609, 34979968, 36096339	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	19224311		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23755159, 25681989, 26556829, 27016404, 30778698, 36549973	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24488689, 27016404		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis 2 Juvenile	Amyotrophic lateral sclerosis	Pubtator	32383541	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)	Amyotrophic lateral sclerosis	BEFREE	22154821, 26972116		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 5	Amyotrophic lateral sclerosis	GENOMICS_ENGLAND_DG	19194956, 20110243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	Pubtator	34479069	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 5	Amyotrophic lateral sclerosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 5	Amyotrophic lateral sclerosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	BEFREE	17992088		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31969655	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive Charcot-Marie-Tooth disease type 2X	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	17322883, 18067136, 18337587, 18717728, 19194956, 19224311, 20110243, 20571989, 21381113, 22696581, 24090761, 24794856, 26556829, 27256065, 28237315, 29804168, 30081747		★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 11	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	22749184, 29946510	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	CLINVAR_DG	19194956		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Cataract posterior polar 4	Congenital cataract	Pubtator	30081747	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	23043354	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	36748384	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	26556829, 27071356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X	Charcot-Marie-Tooth Disease	CLINVAR_DG	17322883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	19194956, 24357685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X	Charcot-Marie-Tooth Disease	ORPHANET_DG	26556829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	20669327, 20971220, 23221952, 27016404, 27256065, 33430805	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28237315		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	33430805	Associate	★☆☆☆☆ Found in Text Mining only
Complicated hereditary spastic paraplegia	Spastic paraplegia	BEFREE	18337587, 19917823, 23443022, 28991695		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	31939580	Stimulate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10404983, 27318863		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal peripheral sensory neuropathy	Distal peripheral sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	BEFREE	26003865		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35041927	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24833714		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31969655	Associate	★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	CLINVAR_DG	19194956		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	26581300		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	18337587	Associate	★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	29946510	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG	19194956		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	36432490	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	14745065, 16773502, 18079167, 18394578, 19438933, 19513778, 19805727, 19917823, 21214876, 23968121, 24090761, 24141732, 26003865, 27071356, 27180005, 27318863, 27601211, 28237315, 28832565, 29246610, 29804168, 30574063, 31231294, 31281085		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	26556829	Associate	★☆☆☆☆ Found in Text Mining only
Homocarnosinase deficiency	Homocarnosinase Deficiency	BEFREE	29732542		★☆☆☆☆ Found in Text Mining only
Homocarnosinosis	Homocarnosinosis	BEFREE	29732542		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	14732628, 16682547, 16773502, 17322883, 18067136, 18079167, 18332254, 18663179, 18717728, 18787847, 18835492, 19040626, 19194956, 19196735, 19224311, 19513778, 20110243, 20571989, 20971220, 21214876, 21381113, 22266886, 23121729, 24315199, 26556829, 31385551		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG	19194956		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	10404983, 18067136, 20669327, 28237315, 30476097		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	18439221		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	27318863		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33430805, 36748384	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20110243, 22154821, 26556829		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	20110243, 22154821, 24085347		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Learning Disabilities	Learning disorders	Pubtator	23443022	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	36432490	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	22749184	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	29946510	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	33430805	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	10404983		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	16773502, 18332254		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	27318863		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG	19194956		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35026838	Associate	★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	18079167, 27016404, 28237315		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	34479069, 37133535	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	33446253	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27180005		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	27180005	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	27180005		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	29946510	Associate	★☆☆☆☆ Found in Text Mining only
Nakamura Osame syndrome	Nakamura Osame Syndrome	ORPHANET_DG	17322883, 19105190		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27016404, 27544499	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25365221, 29381698, 35906604, 36432490, 37510225	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19224311, 30476097		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	27544499		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23443022, 36432490	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	36748384	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	22749184	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	BEFREE	21035867		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	25365221, 27217339, 27544499, 29980238, 30476097, 33430805, 34979968, 37510225	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	20669327, 22623900	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	10404983, 19224311, 20669327, 21381113, 30306626		★☆☆☆☆ Found in Text Mining only
Parkinsonism, Juvenile	Parkinsonian disease	BEFREE	19224311, 21381113		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	26556829		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26556829, 27544499, 36748384	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	27318863		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	27318863, 27544499		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	20971220	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	20971220		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10404983, 27318863		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	23443022	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CLINVAR_DG	19194956		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	17322883, 18067136, 19196735, 19224311, 20571989, 26671123, 29980238, 30476097		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 11 autosomal recessive	Spastic paraplegia	Pubtator	20971220, 22237444, 27900367, 30081747, 33430805, 36748384	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	GENOMICS_ENGLAND_DG	14745065, 17322883, 18067136, 19194956, 27820618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	CLINVAR_DG	17322883, 17717710, 18067136, 18079167, 18332254, 18337587, 18717728, 18835492, 19105190, 19194956, 19196735, 19438933, 20110243, 20390432, 22154821, 22175763, 22237444, 22696581, 23443022, 24833714, 26556829, 27071356, 27084228, 27217339, 28554332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	ORPHANET_DG	17322883, 19105190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	UNIPROT_DG	17322883, 18079167, 19105190, 27217339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	BEFREE	18787847, 22237444, 24794856, 29949766, 30476097, 30606727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 15 autosomal recessive	Spastic paraplegia	Pubtator	30081747	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 15, autosomal recessive	Spondylometaphyseal dysplasia	BEFREE	18332254, 19194956, 21035867		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 4, autosomal dominant	Spastic Paraplegia	BEFREE	31231294		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	BEFREE	22554690		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	18337587, 18717728, 20613862, 20669327, 20971220, 23443022, 23825025, 25365221, 26374131, 26556829, 27016404, 27180005, 27256065, 27601211, 27900367, 28832565, 29381698, 29946510, 30081747, 30476097, 30778698, 32383541, 33430805, 33638609, 34479069, 34979968, 35026838, 35331153, 35906604, 36096339, 36109173, 36432490, 36748384, 37133535, 39304850, 39391989	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia type 5A, recessive	Spastic paraplegia	BEFREE	18079167, 18787847		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	14732628, 16773502, 18332254, 18337587, 18717728, 18835492, 19513778, 20613862, 20971220, 21214876, 21381113, 21545838, 22554690, 23121729, 23968121, 24315199, 24794856, 26003865, 27180005, 27318863, 28933964, 29804168, 29949766, 30081747, 30306626, 30476097, 30574063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	LHGDN	18067136, 18337587, 18361476, 18717728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28832565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30778698	Associate	★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	14745065, 16773502, 17322883, 17717710, 18067136, 18337587, 19194956, 19196735, 19224311, 19917823, 27256065, 29246610, 31385551		★☆☆☆☆ Found in Text Mining only
Troyer syndrome	Troyer Syndrome	BEFREE	22554690		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	29246610, 31231294		★☆☆☆☆ Found in Text Mining only