CACNA1A (calcium voltage-gated channel subunit alpha1 A)

Gene

• Entrez ID: 773
• Gene name: Calcium voltage-gated channel subunit alpha1 A
• Gene symbol: CACNA1A
• Synonyms (NCBI Gene): APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
• Chromosome: 19
• Chromosome location: 19p13.13
• Summary: Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs16024	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs16054	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC>-,TGC,TGCTGC,TGCTGCTGC,TGCTGCTGCTGC,TGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,TGCTGCT	Likely-benign, benign, pathogenic	Inframe deletion, 3 prime UTR variant, inframe insertion, coding sequence variant
rs2304094	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs17846921	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs111366222	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs121908211	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908212	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908213	A>G	Pathogenic	Coding sequence variant, missense variant
rs121908214	T>G	Pathogenic	Coding sequence variant, missense variant
rs121908215	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908216	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs121908217	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908218	G>A,C,T	Not-provided, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs121908219	T>C	Pathogenic	Coding sequence variant, missense variant
rs121908220	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908225	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908226	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908227	A>C	Pathogenic	Coding sequence variant, missense variant
rs121908228	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs121908230	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908233	A>G	Pathogenic	Coding sequence variant, missense variant
rs121908236	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908237	C>A	Pathogenic	Coding sequence variant, missense variant
rs121908242	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121908243	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908247	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, not-provided, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909323	G>A	Pathogenic	Coding sequence variant, stop gained
rs121909324	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs121909326	A>G	Pathogenic	Coding sequence variant, missense variant
rs184723350	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs188863534	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs190551509	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs199745070	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs199886234	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs201200430	G>A	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201236364	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201350764	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201836062	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202216404	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267606696	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, stop gained
rs369033909	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs370541345	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371972266	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372240227	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373192655	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374307014	C>A,T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs374686479	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs374749004	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs375354077	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs375628894	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376684786	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs551380805	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs554393704	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs561858384	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs574805525	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587776692	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776693	C>T	Pathogenic	Splice donor variant
rs587776694	->C	Pathogenic	Frameshift variant, coding sequence variant
rs587776695	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs746790849	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs746848153	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs749587119	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs751675055	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs754935637	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs757291476	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs757953057	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs758409135	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs760682283	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs760994682	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs763941704	GGTCCCGCTCCT>-,GGTCCCGCTCCTGGTCCCGCTCCT	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs764399373	CTCGCCCTCGCC>-,CTCGCC,CTCGCCCTCGCCCTCGCC,CTCGCCCTCGCCCTCGCCCTCGCC	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, inframe insertion, inframe deletion
rs764839814	G>A,C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs767432719	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs768950814	->GTG,GTGGTG,GTGGTGGTG	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion
rs774224202	G>A,C	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs779221807	G>A	Pathogenic	Coding sequence variant, stop gained
rs780515850	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs786200962	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs786200963	C>T	Likely-pathogenic, uncertain-significance	Intron variant
rs794727355	C>T	Pathogenic	Splice donor variant
rs794727411	C>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs863224852	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886037944	C>G	Pathogenic	Missense variant, coding sequence variant
rs886037946	C>A	Pathogenic	Missense variant, coding sequence variant
rs886039668	G>A	Pathogenic	Coding sequence variant, stop gained
rs886041279	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs886041541	A>C	Pathogenic	Missense variant, coding sequence variant
rs886041654	C>A	Pathogenic	Missense variant, coding sequence variant
rs886041909	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs886042230	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs886043657	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886044439	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs906086634	T>C	Likely-pathogenic	Splice acceptor variant
rs940460024	G>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs951196653	C>A	Likely-pathogenic	Splice donor variant
rs1057518069	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057518116	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518513	C>T	Likely-pathogenic	Splice donor variant
rs1057518532	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057518779	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057519197	A>G	Likely-pathogenic	Splice donor variant
rs1057519429	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057520154	->ACTGGTCCGCTGCTCCCACACGGACTTG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1057520749	A>T	Pathogenic	Coding sequence variant, missense variant
rs1057520918	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057521920	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057522420	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1057524483	T>C	Likely-pathogenic	Splice acceptor variant
rs1064794261	G>A	Pathogenic	Coding sequence variant, missense variant
rs1064794262	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064794263	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794629	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794808	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1064794858	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795751	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795800	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795856	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064796199	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796640	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064796709	T>G	Likely-pathogenic	Splice acceptor variant
rs1131691374	AAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1131691712	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1158454977	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1272886269	C>T	Pathogenic	Splice donor variant
rs1315533129	C>A,T	Pathogenic	Splice donor variant
rs1318353774	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1355062450	G>A	Pathogenic	Stop gained, coding sequence variant
rs1420078244	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1555730801	->A	Pathogenic	Coding sequence variant, stop gained
rs1555730878	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555730902	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555736262	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1555736565	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555737113	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555738200	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555738369	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555740805	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1555743942	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555745158	G>C	Likely-pathogenic	Intron variant
rs1555745461	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1555745467	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555752975	GGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555753042	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555755878	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1555755909	GCTCCGCCTTGTCCTCCGGACCCTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555755926	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555755929	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1555755977	CCCGTGCGCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555756091	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555756130	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1555756161	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555756461	CAC>GT	Pathogenic	Frameshift variant, coding sequence variant
rs1555756737	C>A	Pathogenic	Coding sequence variant, stop gained
rs1555757432	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555757523	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555757537	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555758842	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555759066	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555761603	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555762855	AACAATAGCAACACACAGCGTG>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1555762869	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555762908	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555767914	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555767930	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1555773764	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1555797179	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568440440	GT>-	Pathogenic	Intron variant, coding sequence variant, stop gained, inframe indel
rs1568443280	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1568447650	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1568457080	C>A	Pathogenic	Splice donor variant
rs1568470104	G>A	Pathogenic	Coding sequence variant, stop gained
rs1568473171	G>A	Pathogenic	Coding sequence variant, stop gained
rs1568473233	G>A	Pathogenic	Coding sequence variant, stop gained
rs1568485109	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1568493323	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1568494824	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568495944	G>A	Pathogenic	Coding sequence variant, stop gained
rs1568507151	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1568514116	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1568514371	AG>CTCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568518113	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568518139	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568523843	->T	Pathogenic	Coding sequence variant, stop gained
rs1568528144	C>T	Pathogenic	Coding sequence variant, stop gained
rs1568528298	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1568546593	G>C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1568569290	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1568659847	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568720031	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599276830	TCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599289383	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599292631	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1600088360	C>T	Likely-pathogenic	Splice donor variant
rs1600114562	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600127096	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1600130724	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600139005	A>C	Pathogenic	Stop gained, coding sequence variant
rs1600139781	G>A	Pathogenic	Stop gained, coding sequence variant
rs1600152215	C>A	Pathogenic	Intron variant, splice donor variant
rs1600180395	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1600180457	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1600180659	T>C	Likely-pathogenic	Splice acceptor variant
rs1600198481	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1600242882	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600271575	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1600272344	->CCCCCCTGCCG	Pathogenic	Frameshift variant, coding sequence variant
rs1600273534	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1600274038	C>T	Pathogenic	Stop gained, coding sequence variant
rs1600293149	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600313212	A>-	Likely-pathogenic	Splice donor variant
rs1600353301	->GG	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT659929	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT659928	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT659927	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT659926	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT659925	hsa-miR-5695	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT659924	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT659923	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT608764	hsa-miR-4485-5p	HITS-CLIP	24906430
MIRT608763	hsa-miR-370-3p	HITS-CLIP	24906430
MIRT608762	hsa-miR-6893-3p	HITS-CLIP	24906430
MIRT608761	hsa-miR-4734	HITS-CLIP	24906430
MIRT608760	hsa-miR-4706	HITS-CLIP	24906430
MIRT608759	hsa-miR-4749-5p	HITS-CLIP	24906430
MIRT608758	hsa-miR-744-5p	HITS-CLIP	24906430
MIRT608764	hsa-miR-4485-5p	HITS-CLIP	24906430
MIRT608763	hsa-miR-370-3p	HITS-CLIP	24906430
MIRT608762	hsa-miR-6893-3p	HITS-CLIP	24906430
MIRT608761	hsa-miR-4734	HITS-CLIP	24906430
MIRT608760	hsa-miR-4706	HITS-CLIP	24906430
MIRT608759	hsa-miR-4749-5p	HITS-CLIP	24906430
MIRT608758	hsa-miR-744-5p	HITS-CLIP	24906430
MIRT572335	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT572334	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT572333	hsa-miR-4307	PAR-CLIP	20371350
MIRT572332	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT738160	hsa-miR-626	HITS-CLIP	33718276
MIRT738161	hsa-miR-1226	HITS-CLIP	33718276
MIRT659929	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT659928	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT659927	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT659926	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT659925	hsa-miR-5695	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT659924	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT659923	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT572335	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT572334	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT572333	hsa-miR-4307	PAR-CLIP	20371350
MIRT572332	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT857393	hsa-miR-1273g	CLIP-seq
MIRT857394	hsa-miR-147	CLIP-seq
MIRT857395	hsa-miR-644	CLIP-seq
MIRT857396	hsa-miR-1273f	CLIP-seq
MIRT857397	hsa-miR-143	CLIP-seq
MIRT857398	hsa-miR-146a	CLIP-seq
MIRT857399	hsa-miR-146b-5p	CLIP-seq
MIRT857394	hsa-miR-147	CLIP-seq
MIRT857400	hsa-miR-3148	CLIP-seq
MIRT857401	hsa-miR-3682-3p	CLIP-seq
MIRT857402	hsa-miR-4251	CLIP-seq
MIRT857403	hsa-miR-4329	CLIP-seq
MIRT857404	hsa-miR-4461	CLIP-seq
MIRT857405	hsa-miR-4496	CLIP-seq
MIRT857406	hsa-miR-4708-5p	CLIP-seq
MIRT857407	hsa-miR-4711-3p	CLIP-seq
MIRT857408	hsa-miR-4770	CLIP-seq
MIRT857409	hsa-miR-541	CLIP-seq
MIRT857410	hsa-miR-548a-3p	CLIP-seq
MIRT857411	hsa-miR-548e	CLIP-seq
MIRT857412	hsa-miR-548f	CLIP-seq
MIRT857413	hsa-miR-581	CLIP-seq
MIRT857414	hsa-miR-589	CLIP-seq
MIRT857415	hsa-miR-624	CLIP-seq
MIRT857416	hsa-miR-629	CLIP-seq
MIRT857417	hsa-miR-654-5p	CLIP-seq
MIRT2192263	hsa-miR-4447	CLIP-seq
MIRT2192264	hsa-miR-4472	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IC	23376566
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	10753886, 12451115
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IGI	21883149
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	8692999, 11865310, 21078624, 33539324
GO:0005634	Component	Nucleus	IDA	16595610
GO:0005737	Component	Cytoplasm	IDA	16595610
GO:0005886	Component	Plasma membrane	IDA	16595610, 26716990
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	10753886
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	21883149, 24836863, 26716990
GO:0008331	Function	High voltage-gated calcium channel activity	IMP	23376566
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10753886
GO:0016020	Component	Membrane	TAS	16595610
GO:0019905	Function	Syntaxin binding	IDA	8692999
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042995	Component	Cell projection	IDA	16595610
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	ISS
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	23376566
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	24836863, 26716990
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:1904645	Process	Response to amyloid-beta	IDA	18216187, 23376566
GO:1904646	Process	Cellular response to amyloid-beta	IDA	21883149
GO:1904646	Process	Cellular response to amyloid-beta	IGI	21883149

Other IDs

• MIM: 601011
• HGNC: 1388
• e!Ensembl: ENSG00000141837

Protein

• UniProt ID: O00555
• Protein name: Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Brain calcium channel I) (BI) (Calcium channel, L type, alpha-1 polypeptide isoform 4) (Voltage-gated calcium channel subunit alpha Cav2.1)
• Protein function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expressio
• PDB: 3BXK, 8X90, 8X91, 8X93
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	97 → 371	Ion transport protein	Family
  PF00520	Ion_trans	485 → 724	Ion transport protein	Family
  PF00520	Ion_trans	1242 → 1520	Ion transport protein	Family
  PF00520	Ion_trans	1564 → 1821	Ion transport protein	Family
  PF16905	GPHH	1830 → 1883	Voltage-dependent L-type calcium channel, IQ-associated	Family
  PF08763	Ca_chan_IQ	1893 → 1970	Voltage gated calcium channel IQ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P
• Sequence:

  MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMA
  LYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQH
  LPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTG
  ILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIF
  AIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ
  FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLS
  GEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDAL
  RRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIR
  RMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGL
  GTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLR
  NLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTV
  FQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQ
  ELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSE
  MRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRA
  AEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRE
  SDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRA
  HRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARRE
  DKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAA
  PHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTP
  ENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEE
  KKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIAL
  AAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVV
  SGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNIL
  IVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEF
  HYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFF
  FVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQ
  FVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFG
  ILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRIL
  LWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRT
  FFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFL
  MLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSP
  PLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDA
  ELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQ
  DRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQ
  KTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAEN
  QRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSH
  RASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHP
  PPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPR
  RGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRR
  YPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEG
  PPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGP
  ACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC

• Sequence length: 2506

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
Synaptic vesicle cycle
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Long-term depression
Taste transduction
Type II diabetes mellitus
Spinocerebellar ataxia
Morphine addiction
Nicotine addiction
Chemical carcinogenesis - receptor activation

Reactome:

Presynaptic depolarization and calcium channel opening
Regulation of insulin secretion

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
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs886037945	RCV001814128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ataxia _ Neurologic (child onset)	Likely pathogenic; Pathogenic	rs121908247	RCV000755049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy	Pathogenic	rs2513710454	RCV003484472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bulbar palsy	Likely pathogenic; Pathogenic	rs1064794262	RCV001004002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CACNA1A-associated disorder	Likely pathogenic; Pathogenic	rs2144773045	RCV003314034	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CACNA1A-associated disorders	Likely pathogenic; Pathogenic	rs1555745461	RCV001252961	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CACNA1A-related complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2145030587, rs121909323, rs765531651, rs1555751762, rs1555773764, rs886042230	RCV004785433 RCV004786248 RCV004595370 RCV006249664 RCV005638113 RCV004789205	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CACNA1A-related disorder	Likely pathogenic; Pathogenic	rs2060983144, rs771682941, rs2144524434, rs794727355, rs794727411, rs121908212, rs2145245078, rs2512544978, rs2513512123, rs2512918165, rs1353710115, rs1057519429, rs1064794262, rs746790849, rs1555740805, rs1555745467, rs1568447650, rs1600271575, rs1296262946, rs2058556589	RCV004734160 RCV002291304 RCV004729060 RCV003233483 RCV005868021 RCV005867734 RCV003985608 RCV003985594 RCV003985602 RCV003985618 RCV003985676 RCV004725207 RCV003985358 RCV003985368 RCV003985374 RCV003985376 RCV003985429 RCV004554843 RCV003985479 RCV005232218 RCV001249308	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs1057519429, rs1568440440	RCV000416438 RCV000678985	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Likely pathogenic	rs1057519429	RCV000556499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral palsy	Likely pathogenic	rs1008881855	RCV001796577	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic and progressive ataxia	Likely pathogenic; Pathogenic	rs121908247	RCV000157057	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed gross motor development	Likely pathogenic; Pathogenic	rs1555745461	RCV001787103	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 42	Likely pathogenic; Pathogenic	rs2055612479, rs2059069286, rs577006493, rs2144536202, rs2144725957, rs2144559526, rs2060983144, rs2144506286, rs2144506487, rs1431092862, rs2144726142, rs2144748340, rs2144772838, rs2144880750, rs2144952476, rs1231997862, rs886037944, rs2144980758, rs779576853, rs2144748225, rs2144936041, rs2144955129, rs2144839766, rs2144889523, rs2144616676, rs951196653, rs2144958410, rs2144767386, rs2144647855, rs2144888569, rs2144758193, rs2145030587, rs1296629000, rs2144622191, rs2145192572, rs2144647916, rs2054856814, rs2145245595, rs771682941, rs2144616690, rs2144936148, rs2144954299, rs2144622488, rs2145245392, rs587776693, rs2144535495, rs2145114772, rs2144735303, rs2145030772, rs1568662077, rs2144648058, rs2144889289, rs2144524434, rs886037946, rs2144979269, rs2144524396, rs2145004096, rs2144956340, rs2512763520, rs2513031029, rs2512751813, rs2513031267, rs2512627299, rs2513031100, rs2512649193, rs794727355, rs794727411, rs2512910840, rs2513709042, rs2512816590, rs2513175615, rs2512520498, rs2512906524, rs2512931447, rs2512759285, rs121908243, rs2512515665, rs2513200325, rs2057721188, rs863224852, rs2056766498, rs2512644131, rs2512858290, rs2512904670, rs2512848341, rs2512947666, rs121908211, rs121908212, rs121908214, rs121908216, rs121908215, rs121908219, rs121908225, rs121908217, rs121909323, rs121909324, rs267606696, rs121909326, rs121908230, rs2512649059, rs1064795531, rs886037945, rs2512910868, rs2513041499, rs886039668, rs886041279, rs2513709034, rs2512751850, rs2512759230, rs2512908632, rs2512947884, rs2512982816, rs2512520111, rs2513151820, rs121908224, rs587776694, rs2512931633, rs2512982918, rs2513710096, rs2512610959, rs1202610727, rs2512966835, rs2512909792, rs2512947966, rs2512537287, rs2513503626, rs2512645497, rs2512810715, rs1600353301, rs2512855822, rs2513151774, rs2512520749, rs2512930046, rs2513503710, rs2512759551, rs2512908132, rs2512910388, rs2512907195, rs2513503821, rs2512741435, rs2513708527, rs2513151718, rs2512759377, rs2512983397, rs2512534151, rs2512858528, rs2512603336, rs757953057, rs1057518513, rs1057520918, rs1057524483, rs1064794261, rs1064794629, rs1064795800, rs1064794808, rs1064794858, rs1555755977, rs1064794262, rs1064794263, rs1555757537, rs1555762855, rs1555730878, rs1555745461, rs764839814, rs1555737113, rs1272886269, rs1555743942, rs1555757523, rs1555755909, rs1555759066, rs1555762908, rs1555757432, rs1158454977, rs1555761603, rs1555736565, rs1555738369, rs1555756461, rs1555756737, rs1555756130, rs1555751762, rs1555773764, rs1420078244, rs1568440440, rs1168625480, rs1568457080, rs1568528298, rs779221807, rs1568447557, rs1568470104, rs1568528144, rs1568473171, rs1568473233, rs1315533129, rs1568659847, rs1568569290, rs1600272344, rs1568447650, rs1600114562, rs1600139005, rs1600139781, rs1568494824, rs1600274038, rs940460024, rs767432719, rs1599276830, rs886042230, rs1600313212, rs374686479, rs1568514116, rs121908240, rs121908247, rs121908220, rs121908222, rs121908228, rs906086634, rs746790849, rs1600271575, rs1600273534, rs1599289383, rs1296262946, rs2055675454, rs2055849544, rs2056733130, rs2057739636, rs2057953268, rs2058057299, rs1427473572, rs2055835744, rs121908237, rs2058143736, rs765557914, rs1555745467, rs2057373332, rs1360397142, rs2057717676, rs2059190701, rs2057404744, rs2056767062, rs767534576, rs2057168559, rs2057842904, rs2057948502, rs2056674737, rs1555774859	RCV001319286 RCV005213525 RCV001359986 RCV001378180 RCV001377850 RCV001379527 RCV001377033 RCV001384990 RCV001388667 RCV001390936 RCV001388845 RCV001380077 RCV001387640 RCV001382433 RCV001389685 RCV001388196 RCV001882616 RCV001882838 RCV002034491 RCV001775442 RCV001869624 RCV001843393 RCV001897364 RCV001990214 RCV001993034 RCV001991990 RCV001979015 RCV002034426 RCV001964248 RCV001908243 RCV001911720 RCV002008523 RCV001916764 RCV001889863 RCV001891301 RCV001988634 RCV001972240 RCV001912838 RCV001942154 RCV002037295 RCV001900649 RCV001875089 RCV001936104 RCV001885672 RCV001956124 RCV002000901 RCV002023157 RCV002048449 RCV001935935 RCV001958765 RCV002012394 RCV002038382 RCV002052088 RCV002052295 RCV003774680 RCV003089220 RCV003774696 RCV002273848 RCV002274467 RCV002284612 RCV003097686 RCV002288322 RCV002289240 RCV002291184 RCV002468895 RCV002472158 RCV001852172 RCV001061471 RCV002760506 RCV002801531 RCV002832888 RCV002856756 RCV002847257 RCV002858102 RCV002853067 RCV002866279 RCV002867812 RCV002894624 RCV002889983 RCV002904136 RCV002959232 RCV001248022 RCV002995481 RCV003031100 RCV003005665 RCV003024917 RCV003046859 RCV003066191 RCV002512926 RCV000802118 RCV001390440 RCV001381850 RCV001388786 RCV005861017 RCV001390632 RCV001380080 RCV001851752 RCV000763032 RCV005222675 RCV001049766 RCV004795386 RCV002810048 RCV003130898 RCV000240952 RCV000240888 RCV000240915 RCV003226703 RCV003779827 RCV001383649 RCV001859533 RCV003233020 RCV003233021 RCV003314370 RCV003484521 RCV003592048 RCV003785421 RCV003785466 RCV003785554 RCV003783732 RCV003783733 RCV003783734 RCV003779401 RCV003782643 RCV003787414 RCV003788343 RCV003796376 RCV003794619 RCV003807838 RCV003806179 RCV003799471 RCV003804173 RCV003804222 RCV003802935 RCV003801120 RCV003800363 RCV003800368 RCV003800757 RCV003801965 RCV003815743 RCV003809475 RCV003809540 RCV003815324 RCV003813436 RCV003802489 RCV003802561 RCV003805033 RCV003805034 RCV003805243 RCV003812316 RCV003810154 RCV003989467 RCV004594838 RCV002523927 RCV001850999 RCV000787277 RCV001377005 RCV000853325 RCV001264726 RCV005603630 RCV005409657 RCV003152605 RCV003766687 RCV001865490 RCV001059907 RCV002526562 RCV001253541 RCV000526917 RCV002271522 RCV005603634 RCV001853632 RCV000547039 RCV000544536 RCV000552285 RCV000547249 RCV000526339 RCV000528779 RCV000550890 RCV000578415 RCV003767418 RCV003458467 RCV005213366 RCV002529808 RCV000653343 RCV000653332 RCV000653333 RCV000653321 RCV001035721 RCV001382612 RCV000703765 RCV000686079 RCV000687889 RCV000703804 RCV000707561 RCV000706124 RCV000685695 RCV000694800 RCV003492153 RCV000815552 RCV001264752 RCV001390633 RCV005870842 RCV003141770 RCV001869248 RCV000811974 RCV000799538 RCV000817571 RCV000817011 RCV000798464 RCV000806243 RCV000796048 RCV000814263 RCV000802717 RCV000817590 RCV000805379 RCV000806796 RCV003224808 RCV001368840 RCV002513778 RCV000653331 RCV005222736 RCV002514302 RCV001215900 RCV003769308 RCV003769356 RCV002549952 RCV001050623 RCV001004739 RCV003769415 RCV001063625 RCV001066880 RCV001039877 RCV001069607 RCV001041874 RCV001052581 RCV001038879 RCV001036072 RCV001175164 RCV001217912 RCV001223292 RCV001226545 RCV001247687 RCV001244748 RCV001226222 RCV001234689 RCV001251167 RCV001253610 RCV001254122 RCV001880119 RCV004769987 RCV001380079 RCV001871718 RCV001292596 RCV001308810 RCV001301264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 52	Pathogenic; Likely pathogenic	rs2144629622, rs2144958410, rs1296629000, rs2145245595, rs886037946, rs2144773045, rs2144622461, rs2144833336, rs2144979269, rs2144980363, rs2144980726, rs2145004155, rs2144523407, rs2144647872, rs2144649756, rs794727411, rs121908217, rs886037945, rs1057519429, rs1057520918, rs1064794261, rs1064795531, rs1064794808, rs1555740805, rs764839814, rs1555773764, rs1568447650, rs1427473572, rs1555745467, rs2056767062	RCV002227282 RCV002227289 RCV002227288 RCV002227286 RCV002227402 RCV002227403 RCV002227404 RCV002227405 RCV002227406 RCV002227407 RCV002227408 RCV002227409 RCV002227410 RCV002227411 RCV002227412 RCV002227083 RCV002227018 RCV002227102 RCV002227158 RCV002227161 RCV002227166 RCV002227168 RCV002227167 RCV002227176 RCV002227178 RCV002227194 RCV002227217 RCV002227240 RCV002227258 RCV002227260	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Disorder of sexual differentiation	Pathogenic	rs2059190992	RCV001568320	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Pathogenic	rs1555755909	RCV002464259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Enlarged cisterna magna	Likely pathogenic; Pathogenic	rs121908247	RCV000415457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs1064794262, rs1555773764	RCV001004002 RCV000656726	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Episodic ataxia type 2	Likely pathogenic; Pathogenic	rs2055612479, rs1568507151, rs2059069286, rs2057736834, rs577006493, rs2145051267, rs2144536202, rs2144725957, rs2144559526, rs2060983144, rs2144506286, rs2144506487, rs1431092862, rs2144726142, rs2144748340, rs2144772838, rs2144880750, rs2144952476, rs1231997862, rs886037944, rs2144559262, rs2144980758, rs779576853, rs2144936041, rs2144629622, rs2144839766, rs2144889523, rs2144616676, rs951196653, rs2144958410, rs2144767386, rs2144647855, rs2144888569, rs2144758193, rs2145030587, rs1296629000, rs2144622191, rs2145192572, rs2144647916, rs2054856814, rs2145245595, rs771682941, rs2144616690, rs2144936148, rs2144954299, rs2144622488, rs2145245392, rs587776693, rs2144535495, rs2145114772, rs2144735303, rs2145030772, rs1568662077, rs2144648058, rs2144524434, rs886037946, rs2144773045, rs2144622461, rs2144833336, rs2144979269, rs2144980363, rs2144980726, rs2145004155, rs2144523407, rs2144647872, rs2144649756, rs2144524396, rs770679527, rs2513031029, rs786200962, rs794727355, rs794727411, rs2512910840, rs2513709042, rs2512816590, rs2513175615, rs2512520498, rs2512906524, rs2512931447, rs2512759285, rs121908243, rs2512515665, rs2513200325, rs2057721188, rs863224852, rs2056766498, rs2512644131, rs2512858290, rs2512904670, rs2512848341, rs2512947666, rs121908211, rs121908212, rs121908214, rs587776692, rs121908216, rs121908215, rs121908233, rs121908226, rs587776694, rs587776695, rs121908225, rs121908217, rs121909323, rs121909324, rs121908227, rs267606696, rs121909326, rs121908236, rs121908230, rs886037945, rs2513055080, rs2513041499, rs886039668, rs886041279, rs2513709034, rs2512931242, rs2512763792, rs576099495, rs2512982859, rs770276164, rs2513709839, rs2512759168, rs2512982816, rs2512520111, rs2513151820, rs121908224, rs2512931633, rs2512982918, rs2513710096, rs2512610959, rs1202610727, rs2512966835, rs2512909792, rs2512947966, rs2512537287, rs2513503626, rs2512645497, rs2512810715, rs1600353301, rs2512855822, rs2513151774, rs2512520749, rs2512930046, rs2513503710, rs2512759551, rs2512908132, rs2512910388, rs2512907195, rs2513503821, rs2512741435, rs2513708527, rs2513151718, rs2512759377, rs2512983397, rs2512534151, rs2512904399, rs2512858528, rs2512649411, rs2512645777, rs757953057, rs1057518513, rs1057519429, rs1057520918, rs1057524483, rs1064794261, rs1064795531, rs1064794808, rs1064794858, rs1555755977, rs1064794262, rs1064794263, rs746790849, rs1555762869, rs1555762855, rs1555730878, rs1555740805, rs764839814, rs1555737113, rs1272886269, rs1555743942, rs1555757523, rs1555755909, rs1555759066, rs1555762908, rs1158454977, rs1555761603, rs1555736565, rs1555738369, rs1555756461, rs1555756737, rs1555756130, rs1555751762, rs1555773764, rs1420078244, rs1568440440, rs1315533129, rs1168625480, rs1568457080, rs1568528298, rs779221807, rs1568447557, rs1568470104, rs1568528144, rs1568473171, rs1568473233, rs1568493323, rs1568659847, rs774224202, rs1568514371, rs1600272344, rs1568447650, rs1600114562, rs1600139005, rs1600139781, rs1568494824, rs1600274038, rs940460024, rs767432719, rs1599276830, rs886042230, rs1600313212, rs1600088360, rs374686479, rs1600198481, rs1600242882, rs1568514116, rs1599292631, rs121908240, rs121908247, rs121908220, rs121908222, rs121908228, rs906086634, rs1600271575, rs1600273534, rs1600180659, rs1599289383, rs1296262946, rs2055675454, rs2055849544, rs2056733130, rs2057739636, rs2057953268, rs2058057299, rs1427473572, rs121908237, rs2058143736, rs765557914, rs1555745467, rs2057373332, rs1360397142, rs2057717676, rs2058553788, rs2056600391, rs2056767062, rs1600198365, rs767534576, rs2057842904, rs2057948502, rs2056674737, rs1555774859	RCV001319286 RCV001328544 RCV005213525 RCV001336208 RCV001359986 RCV001376055 RCV001378180 RCV001377850 RCV001379527 RCV001377033 RCV001384990 RCV001388667 RCV001390936 RCV001388845 RCV001380077 RCV001387640 RCV001382433 RCV001389685 RCV001388196 RCV001882616 RCV002246439 RCV001882838 RCV002034491 RCV001869624 RCV002227282 RCV001897364 RCV001990214 RCV001993034 RCV001991990 RCV002227289 RCV002034426 RCV001964248 RCV001908243 RCV001911720 RCV002008523 RCV001916764 RCV001889863 RCV001891301 RCV001988634 RCV001972240 RCV001912838 RCV001942154 RCV002037295 RCV001900649 RCV001875089 RCV001936104 RCV001885672 RCV001956124 RCV002000901 RCV002023157 RCV002048449 RCV001935935 RCV001958765 RCV002012394 RCV002038382 RCV003773527 RCV002227402 RCV002227403 RCV002227404 RCV002227405 RCV002227406 RCV002227407 RCV002227408 RCV002227409 RCV002227410 RCV002227411 RCV002227412 RCV003774696 RCV002282720 RCV003097686 RCV000169640 RCV001852172 RCV000662177 RCV002760506 RCV002801531 RCV002832888 RCV002856756 RCV002847257 RCV002858102 RCV002853067 RCV002866279 RCV002867812 RCV002894624 RCV002889983 RCV002904136 RCV002959232 RCV000197857 RCV002995481 RCV003031100 RCV003005665 RCV003024917 RCV003046859 RCV003066191 RCV002512926 RCV000504541 RCV001390440 RCV000009013 RCV000009014 RCV000009017 RCV000009019 RCV000009021 RCV000009023 RCV000009024 RCV000009025 RCV000502832 RCV001380080 RCV000009031 RCV000009032 RCV000009033 RCV005222675 RCV000157056 RCV000009037 RCV004795386 RCV000763034 RCV003224954 RCV003228702 RCV001383649 RCV001859533 RCV003779849 RCV003233022 RCV003330231 RCV003333361 RCV003335812 RCV003336686 RCV003336697 RCV003448529 RCV003785421 RCV003785466 RCV003785554 RCV003783732 RCV003783733 RCV003783734 RCV003779401 RCV003782643 RCV003787414 RCV003788343 RCV003796376 RCV003794619 RCV003807838 RCV003806179 RCV003799471 RCV003804173 RCV003804222 RCV003802935 RCV003801120 RCV003800363 RCV003800368 RCV003800757 RCV003801965 RCV003815743 RCV003809475 RCV003809540 RCV003815324 RCV003813436 RCV003802489 RCV003802561 RCV003805033 RCV003805034 RCV003805243 RCV003812316 RCV003810154 RCV003985948 RCV003989467 RCV004555277 RCV004555357 RCV002523927 RCV001850999 RCV002227158 RCV000763033 RCV001377005 RCV001851179 RCV002227168 RCV000679938 RCV003766687 RCV001865490 RCV001059907 RCV002470870 RCV000500314 RCV000501177 RCV000526917 RCV005625670 RCV001644622 RCV001853632 RCV000547039 RCV000544536 RCV000552285 RCV000547249 RCV000526339 RCV000528779 RCV000550890 RCV003767418 RCV003458467 RCV005213366 RCV002468594 RCV000653343 RCV000653332 RCV000653333 RCV000653321 RCV000656726 RCV001382612 RCV000703765 RCV000681661 RCV000686079 RCV000687889 RCV000703804 RCV000707561 RCV000706124 RCV000685695 RCV000694800 RCV000709715 RCV000815552 RCV001328546 RCV004555873 RCV001390633 RCV000754874 RCV000767342 RCV000790430 RCV002227217 RCV000811974 RCV000799538 RCV000817571 RCV000817011 RCV000798464 RCV000806243 RCV000796048 RCV000814263 RCV000802717 RCV000817590 RCV000805379 RCV000806796 RCV000826158 RCV000853265 RCV000990166 RCV000990167 RCV000990168 RCV000990172 RCV000990173 RCV000059291 RCV000653331 RCV005222736 RCV002514302 RCV000059312 RCV003769308 RCV001553543 RCV001029965 RCV001050623 RCV000995711 RCV003769415 RCV001063625 RCV001066880 RCV001039877 RCV001069607 RCV001041874 RCV001052581 RCV001038879 RCV001036072 RCV001217912 RCV001223292 RCV001226545 RCV001247687 RCV001244748 RCV001226222 RCV001234689 RCV001250732 RCV001250805 RCV002227260 RCV001260992 RCV001261167 RCV001880119 RCV001380079 RCV003294188 RCV001308810 RCV001301264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic ataxia, type 2, and epilepsy	Pathogenic	rs267606696	RCV000009034	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hemiplegic migraine	Likely pathogenic; Pathogenic	rs121908211, rs121908212, rs121908213, rs121908214, rs121908237, rs121908225, rs121908217, rs886037945	RCV001533156 RCV001533159 RCV001533160 RCV001533163 RCV001533162 RCV001533157 RCV001533158 RCV002274954	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Febrile seizure	Likely pathogenic	rs1600292598	RCV005623379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal epilepsy	Likely pathogenic; Pathogenic	rs2513709034	RCV005623523	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gait ataxia	Likely pathogenic; Pathogenic	rs1555773764	RCV000656726	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypotonia	Likely pathogenic	rs1555736565	RCV000626755	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs2145051267, rs2513031029, rs1555736565, rs121908247	RCV002286430 RCV002285127 RCV000626755 RCV000415457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary episodic ataxia	Likely pathogenic; Pathogenic	rs771682941, rs121908240	RCV004782836 RCV003398649	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1057519429, rs2055849544	RCV000556499 RCV001251920	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine	Likely pathogenic; Pathogenic	rs794727411	RCV000662176	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine, familial hemiplegic, 1	Pathogenic; Likely pathogenic	rs2144629622, rs2144958410, rs1296629000, rs2145245595, rs2145245078, rs886037946, rs2144773045, rs2144622461, rs2144833336, rs2144979269, rs2144980363, rs2144980726, rs2145004155, rs2144523407, rs2144647872, rs2144649756, rs1057524483, rs794727411, rs2513709042, rs2056766498, rs121908211, rs121908212, rs121908213, rs121908214, rs121908218, rs121908219, rs121908237, rs121908225, rs121908217, rs121909324, rs121909326, rs121908230, rs886037945, rs2512740838, rs2513041499, rs886041279, rs2513152460, rs1057519429, rs1057520918, rs1064794261, rs1064795531, rs1064794808, rs1555730878, rs1555740805, rs764839814, rs1555755909, rs1555773764, rs1315533129, rs1568447650, rs374686479, rs121908220, rs121908222, rs2058057299, rs1427473572, rs2057372365, rs1555745467, rs2056767062	RCV002227282 RCV002227289 RCV002227288 RCV002227286 RCV002052185 RCV002227402 RCV002227403 RCV002227404 RCV002227405 RCV002227406 RCV002227407 RCV002227408 RCV002227409 RCV002227410 RCV002227411 RCV002227412 RCV002286483 RCV000415108 RCV006254342 RCV004007746 RCV000009008 RCV000009009 RCV000009011 RCV000009012 RCV000009020 RCV000009022 RCV000009026 RCV000009027 RCV000009028 RCV000763032 RCV000009035 RCV000009039 RCV000763034 RCV003224932 RCV003228702 RCV001267828 RCV003234838 RCV002227158 RCV000763033 RCV002227166 RCV002227168 RCV002227167 RCV005625670 RCV002227176 RCV002227178 RCV002464259 RCV002227194 RCV001197888 RCV002227217 RCV003224808 RCV000059303 RCV000059309 RCV001814259 RCV002227240 RCV001197947 RCV002227258 RCV002227260	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Migraine, sporadic hemiplegic, with progressive cerebellar ataxia	Pathogenic	rs121908212	RCV000009010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs2145002387	RCV001733809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2144767252, rs2144935933, rs2144748419, rs121909326, rs1568470104, rs121908247	RCV002274321 RCV002274322 RCV002274323 RCV002273923 RCV002274087 RCV002273953	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-progressive congenital cerebellar ataxia	Likely pathogenic; Pathogenic	rs121908247	RCV000755049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal central nervous system disorders	Likely pathogenic; Pathogenic	rs1555745467	RCV006443791	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent respiratory infections	Likely pathogenic; Pathogenic	rs1064794262	RCV001004002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2512858136, rs1355062450, rs121908237	RCV003412536 RCV005624411 RCV004587073	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 6	Pathogenic; Likely pathogenic	rs2059069286, rs2144956632, rs2144936093, rs1233611505, rs2144887631, rs2144629622, rs2144958410, rs1296629000, rs2145245595, rs886037946, rs2144773045, rs2144622461, rs2144833336, rs2144979269, rs2144980363, rs2144980726, rs2145004155, rs2144523407, rs2144647872, rs2144649756, rs2145004096, rs2057948232, rs794727411, rs863224852, rs121908212, rs121908216, rs121908215, rs121908217, rs121909324, rs121909326, rs121908230, rs886037945, rs2513041499, rs886041279, rs2512627196, rs1057519429, rs1057520918, rs1064794261, rs1064795531, rs1064795800, rs1064794808, rs1064795856, rs1555730878, rs1555740805, rs1555755878, rs764839814, rs1555755909, rs1555738369, rs1555773764, rs1315533129, rs1568523843, rs1568447650, rs374686479, rs121908247, rs2058057299, rs1427473572, rs1555745467, rs2055612253, rs2056767062	RCV001328549 RCV001542499 RCV001542500 RCV001849210 RCV001849218 RCV002227282 RCV002227289 RCV002227288 RCV002227286 RCV002227402 RCV002227403 RCV002227404 RCV002227405 RCV002227406 RCV002227407 RCV002227408 RCV002227409 RCV002227410 RCV002227411 RCV002227412 RCV002273848 RCV002508177 RCV000662178 RCV000197857 RCV003233067 RCV001542800 RCV000009018 RCV000009030 RCV000763032 RCV000009036 RCV004795386 RCV000763034 RCV003228702 RCV001808726 RCV003989026 RCV002227158 RCV000763033 RCV002227166 RCV001542801 RCV005409657 RCV002227167 RCV003228937 RCV005625670 RCV002227176 RCV001336210 RCV002227178 RCV002464259 RCV001542799 RCV001849186 RCV003458325 RCV003387919 RCV002227217 RCV003224808 RCV000059302 RCV001814259 RCV002227240 RCV001542498 RCV001253514 RCV002227260	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sporadic hemiplegic migraine	Pathogenic	rs121908217	RCV000009029	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Likely pathogenic	rs1555736565	RCV000626755	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs1263091149	RCV001580140	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PAROXYSMAL TORTICOLLIS OF INFANCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLIN-DEPENDENT KINASE-LIKE 5 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EEG with focal epileptiform discharges	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ABSENCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, GENERALIZED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA, TYPE 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE, FAMILIAL TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE, WITHOUT MENTION OF INTRACTABLE MIGRAINE WITHOUT MENTION OF STATUS MIGRAINOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cerebellar ataxia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hemiconvulsion-hemiplegia syndrome	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intention tremor	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ 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	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE, SPORADIC HEMIPLEGIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild global developmental delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	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)
Spastic paraparesis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 6	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subependymal giant-cell astrocytoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Undetermined early-onset epileptic encephalopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence Seizure Disorder	Absence Seizure	CTD_human_DG	17196942		★☆☆☆☆ Found in Text Mining only
Akinetic Petit Mal	Akinetic Petit Mal	CTD_human_DG	17196942		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	29277284		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating Hemiplegia	BEFREE	18498393		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating Hemiplegia	ORPHANET_DG	18498393		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating Hemiplegia	Orphanet			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34151794	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	24664531		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30342765		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Anxiety	Anxiety disorder	Pubtator	10202246	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	25735478, 34102571	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	11439943, 18437043, 21088341, 25735478, 26716990, 28096552, 29470411, 29915382, 32336275, 32692472, 32791484, 34068417, 37301203, 38175838, 9345107	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	20069235	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia Like Disorder	Ataxia telangiectasia	Pubtator	29915382	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	10643919, 11844730, 11960886, 15080863, 16325861, 16614795, 19488825, 19659750, 20157791, 20682717, 21078624, 21717286, 24486772, 24780882, 25735478, 26077168, 26374734, 29624773, 29959555, 30933216, 9259274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG	11985388, 16899342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	12545428, 12676347, 15026160, 16325861, 16595610, 18413478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxias, Hereditary	Ataxia	BEFREE	10601803		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	25274239	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	BEFREE	19631275		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	25735478	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG	25735478		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26566276, 35722745, 36320054	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	26566276	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26566276		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG	25735478		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25735478, 26566276	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26566276		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10674974		★☆☆☆☆ Found in Text Mining only
Benign Hereditary Chorea	Benign Hereditary Chorea	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Benign paroxysmal torticollis of infancy	Benign Paroxysmal Torticollis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19819557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	28751646	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23485510, 24577895		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23934111, 25735478, 27476654, 29366381, 29997391, 39667411	Associate	★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	15743764, 35655070	Associate	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CADASIL	Cadasil	Pubtator	27881154	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	27881154		★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	11179022, 32692472	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23485510, 24577895		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	12545428, 18437043, 18949263, 29482223, 9311738, 9507387, 9915947	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Ataxia, Late Onset	Cerebellar Ataxia	BEFREE	11030410		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	10402032, 10522902, 10601803, 11061267, 11814735, 20542393, 22000314, 22969264, 9403486, 9804117		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Diseases	Cerebellar diseases	Pubtator	11439943, 18670797, 21372168, 22258915, 22969264, 25735478, 31115040, 32336275, 33557884, 34068417, 34102571, 34320921, 35326432, 38003592	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	14681882, 15362569, 15827025, 21035146, 9403486		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	LHGDN	14681882		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	36305856, 38003592	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32692472	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21183743		★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	32336275	Associate	★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	10429004, 16165389		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25735478, 29926469, 31115040, 32692472	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	12705332, 23671257, 24849341, 26747084		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	34068417	Associate	★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	29470411	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	23869231	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	15534763, 18498393		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	15743764, 32233732	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	29553382		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	10768629, 10785256, 11018707, 11359084, 11719247, 11846212, 11939898, 12116198, 12542511, 16614795, 17420317, 17786457, 19169038, 26538302, 9696528, 9758625		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	15743764	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26814174, 31115040, 32336275, 33557884, 34068417, 34102571, 34263451, 34727962, 35655070, 35722745, 37301203, 39667411, 40725423	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	BEFREE	18940563, 29366381		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	9702684		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30543678	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	40725423	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	35432193	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	35655070	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dysarthria	Dysarthria	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dysarthria	Dysarthria	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyscalculia	Dyscalculia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	20097664		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11179022, 11564488, 11723274, 12707077, 14718690, 15300451, 15483044, 1564484, 15710862, 16043807, 16325861, 16595610, 17142831, 17495624, 17575281, 18498393, 18541804, 18940563, 19484318, 19811514, 20097664, 20129625, 20156848, 20204399, 20233618, 20682717, 21183743, 22249839, 23441182, 23771276, 23831250, 23934111, 25735478, 25758715, 26814174, 27476654, 28742085, 3358708, 8898206, 8988170, 9005860, 9302278, 9403487, 9436730, 9559993, 9879686		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35722745	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	15710862, 25468264, 29089256, 29553382, 29770609, 30616057, 31800012, 9925237		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	31578829	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27476654, 27651281, 28927557, 31468518		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	GWASCAT_DG	28881265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	10643919, 12953268, 18759542, 20071244, 20156848, 22249839, 25735478, 27212419, 27250579, 27476654, 28058944, 30048010		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	15452324		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	20156848, 25735478, 29056246, 30185235, 30977854, 32692472, 34102571, 34263451, 34727962, 35305402, 35655070, 35722745, 37651830, 39950246, 40725423	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	20561025, 34102571	Associate	★☆☆☆☆ Found in Text Mining only
epilepsy and migraine	Epilepsy And Migraine	GENOMICS_ENGLAND_DG	8898206		★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	29924869	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Absence, Atypical	Epilepsy	CTD_human_DG	17196942		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	12461694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	BEFREE	18621678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Minor	Epilepsy	CTD_human_DG	17196942		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	25735478, 27212419, 27250579		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG	25735478		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	29366381		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	37651830, 39667411	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	23103419		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42	Epileptic encephalopathy	CLINVAR_DG	10024348, 10371528, 11814735, 11971066, 16325861, 19486177, 23038654, 23071170, 23934111, 24270521, 24420976, 25274239, 25735478, 26795593, 27066515, 27250579, 28169007, 28742085, 8898206, 9488686		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	17575281, 27476654, 8898206		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42	Epileptic encephalopathy	UNIPROT_DG	27250579, 27476654		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	10408533, 12169226, 14681882, 14718690, 14747838, 16116111, 17575281, 18976783, 19139306, 19488825, 19586927, 19624685, 19633872, 19645908, 20156848, 22942164, 25468264, 27328862, 27871455, 28566750, 9600739, 9771787, 9915947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic ataxia	Pubtator	18437043, 20156848, 25735478, 26814174, 28096552, 28566750, 29062094, 30167989, 31115040, 32336275, 34102571, 34320921, 35655070, 40149486, 9771787, 9915947	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	CLINVAR_DG	25735478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic ataxia type 1	Episodic ataxia	BEFREE	11310626, 18976783, 24275721		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia Type 2	Episodic ataxia	Pubtator	11179022, 11748369, 12707077, 17161621, 20156848, 23441182, 24046065, 25735478, 26814174, 26912519, 28096552, 28566750, 29366381, 30314295, 31640633, 32336275, 34102571, 35286975, 35722745, 35837781, 36307210, 40149486, 8898206, 9771787, 9915947	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic ataxia type 2 (disorder)	Episodic Ataxia	CLINVAR_DG	10024348, 10371528, 10408533, 11814735, 11971066, 15452324, 16325861, 19486177, 23038654, 23071170, 24270521, 24420976, 25274239, 25735478, 26795593, 27066515, 27250579, 28169007, 28742085, 8898206, 9488686		★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	BEFREE	10371528, 10408533, 10434311, 10987655, 11176968, 11179022, 11701595, 11723274, 11960817, 12420090, 12525875, 14530926, 14592859, 14681882, 15136697, 15293273, 15699392, 15710862, 16043807, 16186543, 16325861, 16866717, 17292920, 18541804, 18602318, 18606230, 19182766, 19224313, 19232643, 19486177, 19586927, 19624685, 19633872, 20129625, 20156848, 20639635, 20682717, 21440913, 23441182, 24046065, 24486772, 24658662, 24768804, 25109669, 25735478, 26912519, 27871455, 28566750, 29883219, 30063100, 31640633, 8898206, 9302278, 9566402, 9600739, 9781035, 9849799, 9915947		★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	UNIPROT_DG	10408533, 10987655, 11176968, 11723274, 12420090, 14718690, 15173248, 15293273, 18602318, 19232643, 20129625, 21696515, 8898206, 9302278		★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	CTD_human_DG	11985388		★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	GENOMICS_ENGLAND_DG	12756131, 17575281, 19182766, 21734179, 27250579, 27476654		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	30590599		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	25706626, 28553957, 31736276		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	GWASCAT_DG	25706626		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	CTD_human_DG	25706626		★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	10408532, 10408534, 10987655, 11061267, 11167897, 11409427, 11708993, 11719257, 12045730, 12111613, 12162387, 12370474, 12705332, 12707077, 12756131, 15167062, 15534763, 15557518, 15705118, 16110494, 16178956, 16508934, 16567706, 16638514, 18313928, 18451712, 18581134, 18676988, 18976783, 19332696, 19486177, 19520699, 19819557, 20071244, 20080591, 20187861, 20542393, 20682717, 20937883, 21824570, 22527033, 22549042, 22836594, 22883286, 23030542, 23407676, 23430985, 24664531, 26208839, 26961263, 27032388, 27871455, 28169007, 28185542, 28573794, 30063100, 30080864, 30498473, 31331109, 31824404, 9060410, 9302278, 9781035, 9849799, 9915947		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial or sporadic hemiplegic migraine	Hemiplegic Migraine	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial paroxysmal ataxia	Paroxysmal Ataxia	Orphanet			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	CLINVAR_DG	25735478		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	31838195		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized seizures	Seizure	BEFREE	30048010		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25596066, 26739101, 28742085		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gross motor development delay	Developmental delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	29366381	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	LHGDN	18478327		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	10749862	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia	Hemiplegia	Pubtator	34941060	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia, Crossed	Hemiplegia	BEFREE	18498393		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine familial type 1	Hemiplegic migraine	Pubtator	15449251, 27059879, 28573794, 30167989, 32336275, 34102571, 34941060	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine, familial type 1	Hemiplegic migraine	BEFREE	10408532, 10408534, 10766892, 10987655, 11320173, 11409427, 11719257, 11735221, 11803518, 12111613, 12111614, 12705332, 12707077, 12756131, 12953268, 15534763, 15549578, 15557518, 16110494, 16344534, 17119788, 17142831, 18056581, 18345478, 18451712, 18498393, 18976783, 19007941, 19104145, 19332696, 20071244, 20080591, 20542393, 22527033, 23918834, 26747084, 27919014, 28593511, 28856914, 9302278, 9403481, 9566402, 9579893, 9781035, 9849799		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiplegic migraine, familial type 1	Hemiplegic migraine	UNIPROT_DG	10408532, 11409427, 11439943, 15032980, 18400034, 24836863, 26716990, 28900389, 8898206		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiplegic migraine, familial type 1	Hemiplegic migraine	CTD_human_DG	11985388, 24849341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiplegic migraine, familial type 1	Hemiplegic migraine	GENOMICS_ENGLAND_DG	17575281, 21734179, 27250579, 27476654, 8898206		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiplegic migraine, familial type 1	Hemiplegic migraine	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	BEFREE	11310626, 11719247, 17786457		★☆☆☆☆ Found in Text Mining only
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	28987184		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	GWASDB_DG	22968135		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	10429004, 12618080, 14654659		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	27418245, 32111194	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27418245		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	12049805, 12461694		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21035146, 25735478, 28295805, 29926469, 31115040		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	23103419		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	18279427, 18940563		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33278787, 34727962, 35722745, 36320054, 40725423	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ischemic stroke	Ischemic Stroke	BEFREE	30151382, 30538259		★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	10674974		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	31115040	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	34440356	Associate	★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	31468518		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung Neoplasms	Lung Neoplasms	BEFREE	20849603		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20849603	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	BEFREE	30301590		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	10785256, 11939898, 12614315, 17357132, 17420317, 17786457, 19169038, 19659750, 24708620, 26374734, 29111027, 9507387		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	LHGDN	12542511		★☆☆☆☆ Found in Text Mining only
Malan overgrowth syndrome	Malan Overgrowth Syndrome	BEFREE	31574590		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23485510, 24577895		★☆☆☆☆ Found in Text Mining only
Marie Cerebellar Ataxia	Marie Cerebellar Ataxia	BEFREE	11701595		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30524907		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	CLINVAR_DG	25735478		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	10817441, 11173058, 11320173, 11803518, 11843867, 12030327, 12597612, 12705332, 12811615, 14624354, 14681882, 15003170, 15210532, 15449251, 16110494, 16927961, 18056581, 18345478, 18676988, 19429006, 19455354, 19819557, 20484531, 21183743, 22549042, 23430985, 29956301, 31640633, 31824404, 9741473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	Pubtator	15449251, 25274239, 26747084, 30167989, 31640633, 34941060, 35655070, 39781574	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	LHGDN	18400034, 18513263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Familial Hemiplegic 3	Migraine	Pubtator	39781574	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Sporadic Hemiplegic	Migraine	Pubtator	26716990	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	10202246, 11179022, 11439943, 11748369, 12162387, 12707077, 15743764, 17119788, 18056581, 18670797, 19819557, 22784462, 22969264, 25274239, 26814174, 28185542, 28593511, 28750589, 29366381, 29470411, 30167989, 31115040, 31586957, 31980564, 32233732, 32336275, 32692472, 33126486, 33557884, 34102571, 34320921, 34941060, 35722745, 36786913, 39667411, 8898206, 9579893, 9771787, 9915947	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	BEFREE	11719257, 12111613, 12370474, 12849426, 14624354, 15003170, 16508934, 20080591, 22549042, 23430985, 24849341, 26747084, 27032388, 27423601, 29486580		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	LHGDN	15452324, 18279427, 18976783		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine without Aura	Migraine	Pubtator	15449251	Associate	★☆☆☆☆ Found in Text Mining only
MIGRAINE, FAMILIAL HEMIPLEGIC, 2	Hemiplegic migraine	BEFREE	15159495, 9403481		★☆☆☆☆ Found in Text Mining only
MIGRAINE, SPORADIC HEMIPLEGIC	Migraine, sporadic hemiplegic	BEFREE	12056940, 16638514, 18513263, 20071244, 20837964, 20974584, 22527033, 24270521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE, SPORADIC HEMIPLEGIC	Migraine, sporadic hemiplegic	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	CLINVAR_DG	25735478		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27965395		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	29770609		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11179022, 11564488, 11723274, 12707077, 14718690, 15300451, 15483044, 1564484, 15710862, 16043807, 16325861, 16595610, 17142831, 17495624, 17575281, 18498393, 18541804, 18940563, 19484318, 19811514, 20097664, 20129625, 20156848, 20204399, 20233618, 20682717, 21183743, 22249839, 23441182, 23771276, 23831250, 23934111, 25735478, 25758715, 26814174, 27476654, 28742085, 3358708, 8898206, 8988170, 9005860, 9302278, 9403487, 9436730, 9559993, 9879686		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	39667411	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11179022, 11564488, 11723274, 12707077, 14718690, 15300451, 15483044, 1564484, 15710862, 16043807, 16325861, 16595610, 17142831, 17495624, 17575281, 18498393, 18541804, 18940563, 19484318, 19811514, 20097664, 20129625, 20156848, 20204399, 20233618, 20682717, 21183743, 22249839, 23441182, 23771276, 23831250, 23934111, 25735478, 25758715, 26814174, 27476654, 28742085, 3358708, 8898206, 8988170, 9005860, 9302278, 9403487, 9436730, 9559993, 9879686		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	36607273	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30524907		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	LHGDN	12542511		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	29089769		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	18755274		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	28927557		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34371182	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20849603		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10674974, 11409427, 11843866, 11890456, 19854154, 20204399, 20682717, 23827678, 25266619, 25596066, 28007337		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21078624, 21550405, 28946818		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26716990, 31115040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30524907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nyctalopia	Nyctalopia	BEFREE	12081723		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	10601803, 15459825, 18541804, 18670797, 19139306, 24046065, 25259863, 25735478, 25784583, 9702684		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Congenital	Nystagmus	Pubtator	26814174	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	11439943, 18437043, 18670797, 25735478, 9771787	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	15895563		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	27250579		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22871047	Associate	★☆☆☆☆ Found in Text Mining only
Paranoid Disorders	Paranoia	Pubtator	10202246	Associate	★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	25274239	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25866756, 26354989		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	12810491		★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	29581247	Associate	★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	10429004, 16165389		★☆☆☆☆ Found in Text Mining only
Pleocytosis	CSF pleocytosis	BEFREE	12940811		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	10371528, 10408534, 11708993, 15985579, 17292920, 18437043, 9915947		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	39318189	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31659208		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	39950246	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	12081723, 14623729		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	29366381	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome, Atypical	Rett Syndrome	BEFREE	29366381		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10412193		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	29366381	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	28750589, 29366381, 32233732, 34102571, 34263451, 34727962, 35305402, 35655070, 35722745	Associate	★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	24664531		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31659208		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10674974		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	22491195		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	37301203, 9429138	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 19	Spinocerebellar Ataxia	BEFREE	27502082		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 8	Spinocerebellar Ataxia	BEFREE	10690991		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG	11985388, 16899342		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	15989765, 9507387		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG	11985388, 16899342		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	16000334		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG	11985388, 16899342		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG	11985388, 16899342		★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia type 6	Spinocerebellar Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	10051016, 10369863, 10371528, 10442462, 10601803, 10674722, 10945665, 10987655, 11179022, 11701595, 11717352, 11719255, 12707077, 14526175, 15122720, 15474358, 16876337, 17292920, 17395139, 17489948, 17961920, 18285829, 18940563, 18949263, 18976783, 19182766, 19224313, 19788049, 20204399, 20682717, 21550405, 23827678, 24486772, 24836863, 24898624, 25266619, 25735478, 25954029, 26034136, 26077168, 27412786, 27531396, 28295805, 28444220, 28946818, 28987184, 29374372, 30063100, 30393031, 31747689, 9259274, 9259275, 9302278, 9311738, 9403487, 9592791, 9781035, 9849799, 9879686, 9915947		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG	11985388, 16899342		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	UNIPROT_DG	16325861, 20682717, 29053796, 8988170, 9302278, 9345107		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	17575281, 21734179, 27250579, 27476654		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	11889231		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG	11985388, 16899342		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	10051016, 11179022, 11717352, 11748369, 11986402, 12545428, 12707077, 18949263, 21550405, 25735478, 26814174, 27806289, 28946818, 29366381, 31121118, 32229428, 32336275, 32791484, 34102571, 34565721, 35722745, 40149486, 9429138, 9915947	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	29316893	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Degeneration	Spinocerebellar Degeneration	BEFREE	9259274		★☆☆☆☆ Found in Text Mining only
Spinocerebellar tract degeneration	Spinocerebellar Degeneration	BEFREE	9259274		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	33278787, 34102571, 34263451, 35722745	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stroke	Stroke	Pubtator	32692472, 34102571	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	17376154		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	33413531	Associate	★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	29089769		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24577895	Associate	★☆☆☆☆ Found in Text Mining only
Vertical Nystagmus	Vertical nystagmus	BEFREE	18418678		★☆☆☆☆ Found in Text Mining only
Vertical Nystagmus	Vertical nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	15534763, 18498393		★☆☆☆☆ Found in Text Mining only