CACNA1B (calcium voltage-gated channel subunit alpha1 B)

Gene

• Entrez ID: 774
• Gene name: Calcium voltage-gated channel subunit alpha1 B
• Gene symbol: CACNA1B
• Synonyms (NCBI Gene): BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH
• Disease Acronyms (UniProt): DYT23, NEDNEH
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554738159	C>T	Pathogenic	Coding sequence variant, stop gained
rs1589093778	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589095160	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589112601	G>C	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018028	hsa-miR-335-5p	Microarray	18185580
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT670802	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT573131	hsa-miR-3186-3p	PAR-CLIP	20371350
MIRT573130	hsa-miR-5739	PAR-CLIP	20371350
MIRT573129	hsa-miR-3960	PAR-CLIP	20371350
MIRT573128	hsa-miR-8072	PAR-CLIP	20371350
MIRT573127	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT670802	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT573131	hsa-miR-3186-3p	PAR-CLIP	20371350
MIRT573130	hsa-miR-5739	PAR-CLIP	20371350
MIRT573129	hsa-miR-3960	PAR-CLIP	20371350
MIRT573128	hsa-miR-8072	PAR-CLIP	20371350
MIRT573127	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT857418	hsa-miR-1207-5p	CLIP-seq
MIRT857419	hsa-miR-1237	CLIP-seq
MIRT857420	hsa-miR-1248	CLIP-seq
MIRT857421	hsa-miR-1255a	CLIP-seq
MIRT857422	hsa-miR-1255b	CLIP-seq
MIRT857423	hsa-miR-1262	CLIP-seq
MIRT857424	hsa-miR-129-5p	CLIP-seq
MIRT857425	hsa-miR-1343	CLIP-seq
MIRT857426	hsa-miR-146b-3p	CLIP-seq
MIRT857427	hsa-miR-1913	CLIP-seq
MIRT857428	hsa-miR-3127-3p	CLIP-seq
MIRT857429	hsa-miR-3136-5p	CLIP-seq
MIRT857430	hsa-miR-3157-5p	CLIP-seq
MIRT857431	hsa-miR-3166	CLIP-seq
MIRT857432	hsa-miR-3170	CLIP-seq
MIRT857433	hsa-miR-3173-5p	CLIP-seq
MIRT857434	hsa-miR-3180-5p	CLIP-seq
MIRT857435	hsa-miR-3189-3p	CLIP-seq
MIRT857436	hsa-miR-324-3p	CLIP-seq
MIRT857437	hsa-miR-339-5p	CLIP-seq
MIRT857438	hsa-miR-3614-5p	CLIP-seq
MIRT857439	hsa-miR-3677-3p	CLIP-seq
MIRT857440	hsa-miR-3679-3p	CLIP-seq
MIRT857441	hsa-miR-3682-3p	CLIP-seq
MIRT857442	hsa-miR-3691-5p	CLIP-seq
MIRT857443	hsa-miR-3911	CLIP-seq
MIRT857444	hsa-miR-3978	CLIP-seq
MIRT857445	hsa-miR-4261	CLIP-seq
MIRT857446	hsa-miR-4436b-5p	CLIP-seq
MIRT857447	hsa-miR-4439	CLIP-seq
MIRT857448	hsa-miR-4636	CLIP-seq
MIRT857449	hsa-miR-4639-5p	CLIP-seq
MIRT857450	hsa-miR-4691-3p	CLIP-seq
MIRT857451	hsa-miR-4701-3p	CLIP-seq
MIRT857452	hsa-miR-4722-5p	CLIP-seq
MIRT857453	hsa-miR-4732-3p	CLIP-seq
MIRT857454	hsa-miR-4736	CLIP-seq
MIRT857455	hsa-miR-4752	CLIP-seq
MIRT857456	hsa-miR-4758-3p	CLIP-seq
MIRT857457	hsa-miR-4763-3p	CLIP-seq
MIRT857458	hsa-miR-4771	CLIP-seq
MIRT857459	hsa-miR-4779	CLIP-seq
MIRT857460	hsa-miR-499-3p	CLIP-seq
MIRT857461	hsa-miR-518d-5p	CLIP-seq
MIRT857462	hsa-miR-519b-5p	CLIP-seq
MIRT857463	hsa-miR-519c-5p	CLIP-seq
MIRT857464	hsa-miR-520a-5p	CLIP-seq
MIRT857465	hsa-miR-520c-5p	CLIP-seq
MIRT857466	hsa-miR-525-5p	CLIP-seq
MIRT857467	hsa-miR-526a	CLIP-seq
MIRT857468	hsa-miR-548a-3p	CLIP-seq
MIRT857469	hsa-miR-548e	CLIP-seq
MIRT857470	hsa-miR-548f	CLIP-seq
MIRT857471	hsa-miR-549	CLIP-seq
MIRT857472	hsa-miR-561	CLIP-seq
MIRT857473	hsa-miR-583	CLIP-seq
MIRT857474	hsa-miR-642b	CLIP-seq
MIRT857475	hsa-miR-765	CLIP-seq
MIRT857476	hsa-miR-874	CLIP-seq
MIRT857477	hsa-miR-922	CLIP-seq
MIRT857478	hsa-miR-943	CLIP-seq
MIRT857419	hsa-miR-1237	CLIP-seq
MIRT857420	hsa-miR-1248	CLIP-seq
MIRT1954666	hsa-miR-1914	CLIP-seq
MIRT1954667	hsa-miR-198	CLIP-seq
MIRT857437	hsa-miR-339-5p	CLIP-seq
MIRT857439	hsa-miR-3677-3p	CLIP-seq
MIRT1954668	hsa-miR-3689a-3p	CLIP-seq
MIRT1954669	hsa-miR-3689c	CLIP-seq
MIRT1954670	hsa-miR-4685-5p	CLIP-seq
MIRT1954671	hsa-miR-4703-3p	CLIP-seq
MIRT1954672	hsa-miR-4728-5p	CLIP-seq
MIRT857474	hsa-miR-642b	CLIP-seq
MIRT857475	hsa-miR-765	CLIP-seq
MIRT2192265	hsa-miR-1228	CLIP-seq
MIRT2192266	hsa-miR-128	CLIP-seq
MIRT2192267	hsa-miR-140-3p	CLIP-seq
MIRT2192268	hsa-miR-3120-3p	CLIP-seq
MIRT857437	hsa-miR-339-5p	CLIP-seq
MIRT857440	hsa-miR-3679-3p	CLIP-seq
MIRT2192269	hsa-miR-377	CLIP-seq
MIRT2192270	hsa-miR-451b	CLIP-seq
MIRT1954671	hsa-miR-4703-3p	CLIP-seq
MIRT857460	hsa-miR-499-3p	CLIP-seq
MIRT857474	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IC	23376566
GO:0005245	Function	Voltage-gated calcium channel activity	IBA	21873635
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11438518, 15728831, 20195357
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006816	Process	Calcium ion transport	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0008022	Function	Protein C-terminus binding	IPI	15728831
GO:0008331	Function	High voltage-gated calcium channel activity	IMP	23376566
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0045202	Component	Synapse	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	23376566
GO:0051899	Process	Membrane depolarization	TAS
GO:0070509	Process	Calcium ion import	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:1904645	Process	Response to amyloid-beta	IDA	23376566

Other IDs

• MIM: 601012
• HGNC: 1389
• e!Ensembl: ENSG00000148408

Protein

• UniProt ID: Q00975
• Protein name: Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)
• 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: 2LCM, 7MIX, 7MIY, 7VFS, 7VFU, 7VFV, 7VFW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	94 → 367	Ion transport protein	Family
  PF00520	Ion_trans	481 → 720	Ion transport protein	Family
  PF00520	Ion_trans	1149 → 1427	Ion transport protein	Family
  PF00520	Ion_trans	1470 → 1719	Ion transport protein	Family
  PF16905	GPHH	1728 → 1781	Voltage-dependent L-type calcium channel, IQ-associated	Family
  PF08763	Ca_chan_IQ	1792 → 1869	Voltage gated calcium channel IQ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta. Expressed in the cerebral white matter, cortex, hippocampus, basal ganglia, and cerebellum (PubMed:30982612). {
• Sequence:

  MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYN
  PIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPD
  GDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILA
  TAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAII
  GLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNI
  LFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA
  KERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAA
  TKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVK
  AQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS
  YFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVV
  SLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQIL
  TGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTK
  DEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNL
  RASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAE
  APEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPP
  EARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRG
  GPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNH
  QPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHI
  PVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLR
  RFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVI
  KMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLK
  TIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELER
  DCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYE
  EQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACI
  DFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYE
  LMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNN
  FINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQV
  FGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECG
  SDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAA
  CGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIR
  TALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMI
  FDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSL
  SNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSI
  TRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPD
  RPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR
  ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGP
  HPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSL
  PAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTF
  EEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC

• Sequence length: 2339

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
Synaptic vesicle cycle
Retrograde endocannabinoid signaling
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Type II diabetes mellitus
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Morphine addiction
Nicotine addiction
Chemical carcinogenesis - receptor activation

Reactome:

Presynaptic depolarization and calcium channel opening

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	30982612, 25296916
Developmental regression	Developmental regression	rs1224421127	25296916, 30982612
Epileptic encephalopathy	Encephalopathies, Epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	30982612, 25296916
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	20615089, 21057379, 27846195

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Gout	Gout			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arrhythmias Cardiac	Associate	25296916, 26157024
Astrocytoma	Associate	11300931
Autism Spectrum Disorder	Associate	35773312
Bipolar Disorder	Associate	19065143, 21057379, 25730879, 39999946, 40562893
Blepharospasm	Associate	33051750
Breast Neoplasms	Stimulate	28127114, 36137995
Carcinoma Non Small Cell Lung	Associate	21738778, 28127114
Cerebral Infarction	Associate	21166801
Depression Postpartum	Associate	30982612
Dyskinesia Drug Induced	Associate	30982612
Dyskinesias	Associate	30982612
Dystonia	Associate	35041927
Dystonic Disorders	Associate	33051750
Edema	Inhibit	27487831
Epilepsy	Associate	30982612, 37095367
Glioblastoma	Stimulate	11300931
Glioma	Associate	35777045
Hyperkinesis	Associate	30982612
Immunologic Deficiency Syndromes	Associate	19748655
Muscle Hypotonia	Associate	30982612
Muscular Atrophy Spinal	Associate	36607273
Muscular Diseases	Associate	31254144
Myoclonic dystonia	Associate	25296916, 26157024, 35773312
Neoplasm Metastasis	Associate	36137995
Neoplasms	Associate	11300931, 26052950, 31181726
Neuralgia	Associate	28127114
Neurologic Manifestations	Associate	30982612
Obesity	Associate	28476931
Pain	Associate	23536870, 38128761
Pediatric acute onset neuropsychiatric syndrome	Associate	35773312
Pneumonia Lipid	Associate	7468588
Schizophrenia	Associate	21057379, 26462458, 29032150, 39999946
Torticollis	Associate	33051750