Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	773
Gene name Gene Name - the full gene name approved by the HGNC.	Calcium voltage-gated channel subunit alpha1 A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CACNA1A
Synonyms (NCBI Gene) Gene synonyms aliases	APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(211)

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

Show/Hide all(114)

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

Show/Hide all(40)

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

MIM	HGNC	e!Ensembl
601011	1388	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

Interactions

View interactions

	KEGG		Reactome
	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		Presynaptic depolarization and calcium channel opening Regulation of insulin secretion

Show/Hide Causal Diseases (8)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
cerebellar ataxia	Cerebellar ataxia	rs1057519429, rs1568440440	N/A
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 42	rs1315533129, rs886037946, rs1555773764, rs794727355, rs1057520918, rs1555757537, rs1568440440, rs121908225, rs1064794261, rs1555730878, rs794727411, rs1600272344, rs1064794808, rs1568473171, rs1555757523 View all (5 more)	N/A
Episodic Ataxia	Episodic ataxia type 2	rs121908243, rs587776693, rs121908227, rs1599294284, rs1600180659, rs1555738369, rs121908216, rs1315533129, rs1600088360, rs1064794263, rs1555751762, rs121908228, rs1568493323, rs746790849, rs786200962 View all (32 more)	N/A
Hemiplegic migraine	Migraine, familial hemiplegic, 1	rs121908237, rs121908211, rs121908222, rs886041279, rs121909326, rs121908225, rs121908212, rs121908218, rs121908230, rs121908213, rs794727411, rs121908217, rs121908219, rs121908214, rs121908220, rs1315533129 View all (1 more)	N/A
Hemiplegic Migraine	familial hemiplegic migraine	rs121908237, rs121908211, rs121908225, rs121908212, rs121908213, rs121908217, rs121908214	N/A
Mental retardation	intellectual disability	rs2055849544	N/A
Spinocerebellar Ataxia	spinocerebellar ataxia type 6	rs1555738369, rs1064795856, rs121908216, rs886041279, rs121909326, rs121908215, rs1568523843, rs794727411, rs121908217, rs121908247, rs1555755878	N/A
migraine	Migraine	rs794727411	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Endometriosis	Endometriosis	N/A	N/A	GWAS
Epileptic encephalopathy	Undetermined early-onset epileptic encephalopathy, undetermined early-onset epileptic encephalopathy	N/A	N/A	ClinVar, GenCC
Exfoliation Syndrome	Exfoliation syndrome	N/A	N/A	GWAS
Frontal Fibrosing Alopecia	Frontal fibrosing alopecia	N/A	N/A	GWAS
seizure	Seizure	N/A	N/A	ClinVar
Spastic Ataxia	spastic ataxia	N/A	N/A	ClinVar
vascular dementia	Vascular dementia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (122)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abdominal Pain	Associate	23441182
Abnormalities Drug Induced	Associate	32336275
Alzheimer Disease	Associate	34151794
Anxiety	Associate	10202246
Aphasia	Associate	25735478, 34102571
Ataxia	Associate	11439943, 18437043, 21088341, 25735478, 26716990, 28096552, 29470411, 29915382, 32336275, 32692472, 32791484, 34068417, 37301203, 38175838, 9345107
Ataxia	Stimulate	20069235
Ataxia Telangiectasia Like Disorder	Associate	29915382
Atrophy	Associate	25274239
Attention Deficit Disorder with Hyperactivity	Associate	25735478
Autism Spectrum Disorder	Associate	26566276, 35722745, 36320054
Autism Spectrum Disorder	Stimulate	26566276
Autistic Disorder	Associate	25735478, 26566276
Benign Paroxysmal Positional Vertigo	Associate	29926469, 30710491, 31115040
Bipolar Disorder	Associate	28751646
Brain Concussion	Associate	32233732
Brain Diseases	Associate	23934111, 25735478, 27476654, 29366381, 29997391, 39667411
Brain Edema	Associate	15743764, 35655070
CADASIL	Associate	27881154
Calcium Metabolism Disorders	Associate	11179022, 32692472
Cerebellar Ataxia	Associate	12545428, 18437043, 18949263, 29482223, 9311738, 9507387, 9915947
Cerebellar Diseases	Associate	11439943, 18670797, 21372168, 22258915, 22969264, 25735478, 31115040, 32336275, 33557884, 34068417, 34102571, 34320921, 35326432, 38003592
Cerebellar Hypoplasia	Associate	36305856, 38003592
Cerebral Infarction	Associate	32692472
Channelopathies	Associate	31640633
Charcot Marie Tooth disease Type 1D	Associate	40725423
Chronobiology Disorders	Associate	32336275
Cognition Disorders	Associate	25735478, 29926469, 31115040, 32692472
Coma	Associate	15743764, 22969264
Congenital Abnormalities	Associate	34068417
Congenital disorder of glycosylation type 1A	Associate	29470411
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32692472
Congenital Hyperinsulinism	Associate	23869231
Consciousness Disorders	Associate	25274239, 28750589
Conversion Disorder	Associate	34371182
COVID 19	Associate	36104591
Craniocerebral Trauma	Associate	15743764, 32233732
Death	Associate	35655070
Depressive Disorder	Associate	15743764
Developmental Disabilities	Associate	26814174, 31115040, 32336275, 33557884, 34068417, 34102571, 34263451, 34727962, 35655070, 35722745, 37301203, 39667411, 40725423
Diabetes Mellitus Type 1	Associate	30543678
Diastrophic dysplasia	Associate	40725423
Disease Resistance	Associate	26216687
Disorders of Sex Development	Associate	35432193
Drug Resistant Epilepsy	Associate	26216687, 34102571
Dysarthria	Associate	35655070
Dyslexia Acquired	Associate	29366381
Dystonia	Associate	35722745
Ectodermal Dysplasia	Associate	31578829
Epilepsy	Associate	20156848, 25735478, 29056246, 30185235, 30977854, 32692472, 34102571, 34263451, 34727962, 35305402, 35655070, 35722745, 37651830, 39950246, 40725423
Epilepsy Absence	Associate	20561025, 34102571
Epilepsy Generalized	Associate	29924869
Epilepsy Tonic Clonic	Associate	34263451
Epileptic Encephalopathy Early Infantile 3	Associate	37651830, 39667411
Episodic Ataxia	Associate	18437043, 20156848, 25735478, 26814174, 28096552, 28566750, 29062094, 30167989, 31115040, 32336275, 34102571, 34320921, 35655070, 40149486, 9771787, 9915947 View all (1 more)
Episodic Ataxia Type 2	Associate	11179022, 11748369, 12707077, 17161621, 20156848, 23441182, 24046065, 25735478, 26814174, 26912519, 28096552, 28566750, 29366381, 30314295, 31640633 View all (10 more)
Exfoliation Syndrome	Associate	26648185
Friedreich Ataxia	Associate	9429138
Gait Disorders Neurologic	Associate	29366381, 34102571
Genetic Diseases Inborn	Associate	11748369, 30933216, 32336275
Growth Disorders	Associate	29366381
Hand Injuries	Associate	29366381
Heart Arrest	Associate	34727962
Heart Diseases	Associate	10749862
Hemiplegia	Associate	34941060
Hemiplegic migraine familial type 1	Associate	15449251, 27059879, 28573794, 30167989, 32336275, 34102571, 34941060
Hypertension	Associate	27418245, 32111194
Infantile Epileptic Dyskinetic Encephalopathy	Associate	33557884
Intellectual Disability	Associate	33278787, 34727962, 35722745, 36320054, 40725423
Learning Disabilities	Associate	31115040
Leiomyoma	Associate	34440356
Lung Neoplasms	Associate	20849603
Lymphoma Large B Cell Diffuse	Associate	39261532
Mental Disorders	Associate	34727962, 35722745
Microphthalmia Syndromic 10	Associate	25274239
Migraine Disorders	Associate	15449251, 25274239, 26747084, 30167989, 31640633, 34941060, 35655070, 39781574
Migraine Familial Hemiplegic 3	Associate	39781574
Migraine Sporadic Hemiplegic	Associate	26716990
Migraine with Aura	Associate	10202246, 11179022, 11439943, 11748369, 12162387, 12707077, 15743764, 17119788, 18056581, 18670797, 19819557, 22784462, 22969264, 25274239, 26814174 View all (24 more)
Migraine without Aura	Associate	15449251
Movement Disorders	Associate	39667411
Muscle Hypertonia	Associate	29366381
Muscle Hypotonia	Associate	35655070
Muscular Atrophy Spinal	Associate	36607273
Myoclonic Epilepsies Progressive	Associate	32626992
Myoclonic Epilepsies Progressive	Stimulate	9758625
Myotonic Dystrophy	Associate	34371182
Neoplasms	Associate	20849603
Neurologic Manifestations	Associate	26716990, 32233732, 33557884, 34941060, 35655070
Nystagmus Congenital	Associate	26814174
Nystagmus Pathologic	Associate	11439943, 18437043, 18670797, 25735478, 9771787
Ocular Motility Disorders	Associate	26814174
Ovarian Neoplasms	Associate	22871047
Paranoid Disorders	Associate	10202246
Paresis	Associate	25274239
Paroxysmal Tonic Upgaze Benign Childhood With Ataxia	Associate	26814174, 31115040, 38175838
Pathological Conditions Anatomical	Associate	37651830
Peripheral Nervous System Diseases	Associate	29581247
Pressure Ulcer	Associate	27418245
Prostatic Neoplasms	Associate	39318189
Psychotic Disorders	Associate	39950246
Q Fever	Associate	11179022, 20156848
Rett Syndrome	Associate	29366381
Rhinitis Vasomotor	Associate	29366381
Scoliosis	Associate	29366381
Seizures	Associate	28750589, 29366381, 32233732, 34102571, 34263451, 34727962, 35305402, 35655070, 35722745
Sleep Wake Disorders	Associate	29366381
Spinocerebellar Ataxia 11	Associate	37301203, 9429138
Spinocerebellar Ataxias	Associate	10051016, 11179022, 11717352, 11748369, 11986402, 12545428, 12707077, 18949263, 21550405, 25735478, 26814174, 27806289, 28946818, 29366381, 31121118 View all (9 more)
Spinocerebellar Ataxias	Stimulate	29316893
Spinocerebellar Degenerations	Stimulate	21592489
Spinocerebellar Degenerations	Associate	26716990, 34068417, 35326432, 35655070
Status Epilepticus	Associate	33278787, 34102571, 34263451, 35722745
Stroke	Associate	32692472, 34102571
Teratoma	Associate	32791484
Thalassemia Beta+ Silent Allele	Associate	30933216
Tooth Loss	Associate	21372168
Torticollis	Associate	12162387, 29926469, 31115040
Trigeminal Neuralgia	Associate	33413531
Urinary Bladder Neoplasms	Associate	24577895
Vertigo	Associate	9771787
X Linked Combined Immunodeficiency Diseases	Associate	18949263

CACNA1A (calcium voltage-gated channel subunit alpha1 A)