CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4)

Gene

• Entrez ID: 785
• Gene name: Calcium voltage-gated channel auxiliary subunit beta 4
• Gene symbol: CACNB4
• Synonyms (NCBI Gene): CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6
• Chromosome: 2
• Chromosome location: 2q23.3
• Summary: This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805031	C>A	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, risk-factor	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs1805032	G>A	Risk-factor	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs200092211	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs200662010	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs542973906	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant, missense variant
rs558998873	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs754380009	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, synonymous variant, upstream transcript variant
rs762394421	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs794727118	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs1057518688	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030091	hsa-miR-26b-5p	Sequencing	20371350
MIRT739410	hsa-miR-4802-3p	HITS-CLIP	33718276
MIRT857912	hsa-miR-103a	CLIP-seq
MIRT857913	hsa-miR-107	CLIP-seq
MIRT857914	hsa-miR-1183	CLIP-seq
MIRT857915	hsa-miR-1206	CLIP-seq
MIRT857916	hsa-miR-122	CLIP-seq
MIRT857917	hsa-miR-1265	CLIP-seq
MIRT857918	hsa-miR-134	CLIP-seq
MIRT857919	hsa-miR-190	CLIP-seq
MIRT857920	hsa-miR-190b	CLIP-seq
MIRT857921	hsa-miR-2053	CLIP-seq
MIRT857922	hsa-miR-2113	CLIP-seq
MIRT857923	hsa-miR-3065-5p	CLIP-seq
MIRT857924	hsa-miR-3118	CLIP-seq
MIRT857925	hsa-miR-3129-3p	CLIP-seq
MIRT857926	hsa-miR-3136-5p	CLIP-seq
MIRT857927	hsa-miR-3164	CLIP-seq
MIRT857928	hsa-miR-3171	CLIP-seq
MIRT857929	hsa-miR-3190	CLIP-seq
MIRT857930	hsa-miR-3202	CLIP-seq
MIRT857931	hsa-miR-338-5p	CLIP-seq
MIRT857932	hsa-miR-3605-5p	CLIP-seq
MIRT857933	hsa-miR-361-5p	CLIP-seq
MIRT857934	hsa-miR-3653	CLIP-seq
MIRT857935	hsa-miR-3658	CLIP-seq
MIRT857936	hsa-miR-3659	CLIP-seq
MIRT857937	hsa-miR-3688-3p	CLIP-seq
MIRT857938	hsa-miR-3689a-5p	CLIP-seq
MIRT857939	hsa-miR-3689b	CLIP-seq
MIRT857940	hsa-miR-3689e	CLIP-seq
MIRT857941	hsa-miR-3689f	CLIP-seq
MIRT857942	hsa-miR-374a	CLIP-seq
MIRT857943	hsa-miR-374b	CLIP-seq
MIRT857944	hsa-miR-409-3p	CLIP-seq
MIRT857945	hsa-miR-4255	CLIP-seq
MIRT857946	hsa-miR-4257	CLIP-seq
MIRT857947	hsa-miR-4307	CLIP-seq
MIRT857948	hsa-miR-4426	CLIP-seq
MIRT857949	hsa-miR-4439	CLIP-seq
MIRT857950	hsa-miR-4513	CLIP-seq
MIRT857951	hsa-miR-4533	CLIP-seq
MIRT857952	hsa-miR-4647	CLIP-seq
MIRT857953	hsa-miR-4662b	CLIP-seq
MIRT857954	hsa-miR-4677-3p	CLIP-seq
MIRT857955	hsa-miR-4678	CLIP-seq
MIRT857956	hsa-miR-4679	CLIP-seq
MIRT857957	hsa-miR-4698	CLIP-seq
MIRT857958	hsa-miR-4709-3p	CLIP-seq
MIRT857959	hsa-miR-4712-3p	CLIP-seq
MIRT857960	hsa-miR-4729	CLIP-seq
MIRT857961	hsa-miR-4775	CLIP-seq
MIRT857962	hsa-miR-485-5p	CLIP-seq
MIRT857963	hsa-miR-505	CLIP-seq
MIRT857964	hsa-miR-539	CLIP-seq
MIRT857965	hsa-miR-548ac	CLIP-seq
MIRT857966	hsa-miR-548ae	CLIP-seq
MIRT857967	hsa-miR-548aj	CLIP-seq
MIRT857968	hsa-miR-548am	CLIP-seq
MIRT857969	hsa-miR-548d-3p	CLIP-seq
MIRT857970	hsa-miR-548m	CLIP-seq
MIRT857971	hsa-miR-548x	CLIP-seq
MIRT857972	hsa-miR-548z	CLIP-seq
MIRT857973	hsa-miR-569	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT857975	hsa-miR-590-3p	CLIP-seq
MIRT857976	hsa-miR-628-5p	CLIP-seq
MIRT857977	hsa-miR-758	CLIP-seq
MIRT857978	hsa-miR-129-3p	CLIP-seq
MIRT857979	hsa-miR-218	CLIP-seq
MIRT857980	hsa-miR-3159	CLIP-seq
MIRT857981	hsa-miR-3200-5p	CLIP-seq
MIRT857930	hsa-miR-3202	CLIP-seq
MIRT857982	hsa-miR-361-3p	CLIP-seq
MIRT857983	hsa-miR-3617	CLIP-seq
MIRT857984	hsa-miR-3679-3p	CLIP-seq
MIRT857937	hsa-miR-3688-3p	CLIP-seq
MIRT857985	hsa-miR-4279	CLIP-seq
MIRT739773	hsa-miR-433	CLIP-seq
MIRT857986	hsa-miR-4446-5p	CLIP-seq
MIRT857987	hsa-miR-4502	CLIP-seq
MIRT857951	hsa-miR-4533	CLIP-seq
MIRT739772	hsa-miR-4661-5p	CLIP-seq
MIRT857988	hsa-miR-495	CLIP-seq
MIRT857965	hsa-miR-548ac	CLIP-seq
MIRT857966	hsa-miR-548ae	CLIP-seq
MIRT857967	hsa-miR-548aj	CLIP-seq
MIRT857968	hsa-miR-548am	CLIP-seq
MIRT857969	hsa-miR-548d-3p	CLIP-seq
MIRT857989	hsa-miR-548u	CLIP-seq
MIRT857971	hsa-miR-548x	CLIP-seq
MIRT857972	hsa-miR-548z	CLIP-seq
MIRT857990	hsa-miR-599	CLIP-seq
MIRT857991	hsa-miR-636	CLIP-seq
MIRT857992	hsa-miR-641	CLIP-seq
MIRT857993	hsa-miR-651	CLIP-seq
MIRT857994	hsa-miR-7	CLIP-seq
MIRT857995	hsa-miR-938	CLIP-seq
MIRT857942	hsa-miR-374a	CLIP-seq
MIRT857943	hsa-miR-374b	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT857942	hsa-miR-374a	CLIP-seq
MIRT857943	hsa-miR-374b	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT1954820	hsa-miR-124	CLIP-seq
MIRT1954821	hsa-miR-3714	CLIP-seq
MIRT1954822	hsa-miR-3910	CLIP-seq
MIRT1954823	hsa-miR-4660	CLIP-seq
MIRT1954824	hsa-miR-488	CLIP-seq
MIRT1954825	hsa-miR-506	CLIP-seq
MIRT1954826	hsa-miR-515-5p	CLIP-seq
MIRT857994	hsa-miR-7	CLIP-seq
MIRT2192354	hsa-miR-466	CLIP-seq
MIRT2192355	hsa-miR-587	CLIP-seq
MIRT2192356	hsa-miR-129-5p	CLIP-seq
MIRT857982	hsa-miR-361-3p	CLIP-seq
MIRT2192357	hsa-miR-3671	CLIP-seq
MIRT857984	hsa-miR-3679-3p	CLIP-seq
MIRT857986	hsa-miR-4446-5p	CLIP-seq
MIRT2192358	hsa-miR-607	CLIP-seq
MIRT857915	hsa-miR-1206	CLIP-seq
MIRT2495749	hsa-miR-144	CLIP-seq
MIRT2495750	hsa-miR-186	CLIP-seq
MIRT857919	hsa-miR-190	CLIP-seq
MIRT857920	hsa-miR-190b	CLIP-seq
MIRT2495751	hsa-miR-3133	CLIP-seq
MIRT2495752	hsa-miR-410	CLIP-seq
MIRT2495753	hsa-miR-4645-3p	CLIP-seq
MIRT857959	hsa-miR-4712-3p	CLIP-seq
MIRT857960	hsa-miR-4729	CLIP-seq
MIRT2495754	hsa-miR-544	CLIP-seq
MIRT857970	hsa-miR-548m	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT2495749	hsa-miR-144	CLIP-seq
MIRT2495752	hsa-miR-410	CLIP-seq
MIRT2495753	hsa-miR-4645-3p	CLIP-seq
MIRT857959	hsa-miR-4712-3p	CLIP-seq
MIRT2495754	hsa-miR-544	CLIP-seq
MIRT857970	hsa-miR-548m	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	16525042
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005246	Function	Calcium channel regulator activity	IDA	11880487
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16525042, 25910212, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	16525042
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11880487, 16525042
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IBA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	TAS	16385006
GO:0014051	Process	Gamma-aminobutyric acid secretion	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0045202	Component	Synapse	IDA	16525042
GO:0045202	Component	Synapse	IEA
GO:0046058	Process	CAMP metabolic process	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048541	Process	Peyer's patch development	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IMP	11880487
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099509	Process	Regulation of presynaptic cytosolic calcium ion concentration	IEA
GO:0099626	Function	Voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IEA
GO:1904751	Process	Positive regulation of protein localization to nucleolus	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 601949
• HGNC: 1404
• e!Ensembl: ENSG00000182389

Protein

• UniProt ID: O00305
• Protein name: Voltage-dependent L-type calcium channel subunit beta-4 (CAB4) (Calcium channel voltage-dependent subunit beta 4)
• Protein function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and c
• PDB: 2D46
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12052	VGCC_beta4Aa_N	50 → 91	Voltage gated calcium channel subunit beta domain 4Aa N terminal	Domain
  PF00625	Guanylate_kin	218 → 398	Guanylate kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in the cerebellum and kidney.
• Sequence:

  MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPS
  DSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISF
  DAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNS
  SSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQK
  ALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIF
  ELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQ
  LVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGS
  TALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQH
  SRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL

• Sequence length: 520

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
Epilepsy, idiopathic generalized, susceptibility to, 9	Pathogenic	rs1057518688	RCV000414849	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic	rs2151410142	RCV001647152	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CACNB4-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, GENERALIZED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, IDIOPATHIC GENERALIZED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, juvenile myoclonic, susceptibility to, 6	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic ataxia type 5	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, ClinVar, Orphanet CTD, ClinVar, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPISODIC ATAXIA, TYPE 5	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary episodic ataxia	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic generalized epilepsy	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile myoclonic epilepsy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	24025145		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	GWASCAT_DG	29495422		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	35256372	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINGEN_DG	10762541, 18755274, 24875574, 27959697, 9039265, 9442082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	24875574, 28587927		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	31056551, 35256372	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Absence	Absence epilepsy	Pubtator	20561025	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	35256372	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Akinetic	Epilepsy	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
Epilepsy, Atonic	Epilepsy	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	CTD_human_DG	10762541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Tonic	Epilepsy	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	10762541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	GENOMICS_ENGLAND_DG	10762541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic ataxia	Pubtator	29062094	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic ataxia type 5	Episodic ataxia	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPISODIC ATAXIA, TYPE 5	Episodic ataxia	GENOMICS_ENGLAND_DG	10762541, 18446307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA, TYPE 5	Episodic ataxia	ORPHANET_DG	10762541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA, TYPE 5	Episodic ataxia	UNIPROT_DG	10762541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA, TYPE 5	Episodic ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA, TYPE 5	Episodic ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized convulsive epilepsy	Epilepsy with tonic-clonic seizures	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
Generalized Nonconvulsive Seizure Disorder	Nonconvulsive Seizure Disorder	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10762541		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Idiopathic generalized epilepsy	Epilepsy	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Impulsive Petit Mal Epilepsy	Epilepsy	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	18755274		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28587927		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	10762541		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	23756480		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile myoclonic epilepsy	Myoclonic Epilepsy	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	24875574		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy of Janz	Myoclonic Epilepsy	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	18755274		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy, Adolescent	Myoclonic Epilepsy	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy, Juvenile, 1	Myoclonic Epilepsy	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31808001		★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Photosensitive tonic-clonic seizures	Photosensitive tonic-clonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28359200		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28359200	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Symptomatic Generalized Epilepsy	Epilepsy	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	10762541		★☆☆☆☆ Found in Text Mining only