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
• 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:0000166	Function	Nucleotide binding	IEA
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	1321501
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	25296916
GO:0005245	Function	Voltage-gated calcium channel activity	TAS	1321501
GO:0005262	Function	Calcium channel activity	IEA
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	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	TAS	1321501
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	TAS	9030575
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IMP	23376566
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0043025	Component	Neuronal cell body	IBA
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	IEA
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:1903235	Process	Positive regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS
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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CACNA1B-related disorder	Likely pathogenic	rs2539447975	RCV003919306	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	Likely pathogenic; Pathogenic	rs778439899, rs1589095160, rs1589093778, rs1589112601, rs1554738159	RCV003448465 RCV000787344 RCV000787345 RCV000787346 RCV000787347	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CACNA1B-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder with motor features	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dystonia 23	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	25296916, 26157024	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	11300931	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35773312	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	20615089		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	19065143, 21057379, 25730879, 39999946, 40562893	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21057379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	Pubtator	33051750	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28127114, 36137995	Stimulate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	21166801		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	21166801	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	20214085, 26987671		★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	30982612	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	GENOMICS_ENGLAND_DG	25296916, 30982612		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	30982612	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	30982612		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35041927	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	26991507		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	33051750	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	27487831	Inhibit	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30982612		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30982612, 37095367	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11300931	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35777045	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	25296916, 30982612		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	30982612	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25296916, 30982612		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	GENOMICS_ENGLAND_DG	25296916, 30982612		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	36607273	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	25296916, 26157024, 26218636		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	25296916, 26157024, 35773312	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31760042		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28127114		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28476931	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	22891239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20615089, 21057379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20615089, 21057379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	21057379, 26462458, 29032150, 39999946	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	27846195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only