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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	9254
Gene name	Calcium voltage-gated channel auxiliary subunit alpha2delta 2
Gene symbol	CACNA2D2
Synonyms (NCBI Gene)	CACNA2DCASVDD
Chromosome	3
Chromosome location	3p21.31
Summary	Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, an

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777165	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518420	C>T	Likely-pathogenic	Splice acceptor variant
rs1060503108	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1211603072	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1485894376	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553729881	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553759256	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559884460	GAGAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559887808	G>A	Pathogenic	Stop gained, coding sequence variant
rs1575601202	A>C,G	Likely-pathogenic	Splice donor variant
rs1575603683	->T	Pathogenic	Frameshift variant, coding sequence variant

120

Show/Hide all (120)

miRTarBase ID	miRNA	Experiments	Reference
MIRT453381	hsa-miR-4484	PAR-CLIP	23592263
MIRT453380	hsa-miR-4779	PAR-CLIP	23592263
MIRT453379	hsa-miR-4459	PAR-CLIP	23592263
MIRT453378	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT453377	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT453376	hsa-miR-3153	PAR-CLIP	23592263
MIRT453375	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT453374	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT453373	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT453372	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453371	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT453370	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT453369	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT453368	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT453367	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT453381	hsa-miR-4484	PAR-CLIP	23592263
MIRT453380	hsa-miR-4779	PAR-CLIP	23592263
MIRT453379	hsa-miR-4459	PAR-CLIP	23592263
MIRT453378	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT453377	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT453376	hsa-miR-3153	PAR-CLIP	23592263
MIRT453375	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT453374	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT453373	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT453372	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453371	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT453370	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT453369	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT453368	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT453367	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT755800	hsa-miR-423-5p	Luciferase reporter assayqRT-PCRImmunofluorescence	37047559
MIRT857796	hsa-miR-1208	CLIP-seq
MIRT857797	hsa-miR-1225-3p	CLIP-seq
MIRT857798	hsa-miR-1233	CLIP-seq
MIRT857799	hsa-miR-1321	CLIP-seq
MIRT857800	hsa-miR-134	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT857802	hsa-miR-224	CLIP-seq
MIRT857803	hsa-miR-3118	CLIP-seq
MIRT857804	hsa-miR-3126-5p	CLIP-seq
MIRT857805	hsa-miR-3145-3p	CLIP-seq
MIRT857806	hsa-miR-3164	CLIP-seq
MIRT857807	hsa-miR-3189-5p	CLIP-seq
MIRT857808	hsa-miR-3200-5p	CLIP-seq
MIRT857809	hsa-miR-34c-3p	CLIP-seq
MIRT857810	hsa-miR-377	CLIP-seq
MIRT857811	hsa-miR-4291	CLIP-seq
MIRT857812	hsa-miR-4303	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT857814	hsa-miR-4323	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT857816	hsa-miR-4688	CLIP-seq
MIRT857817	hsa-miR-4728-5p	CLIP-seq
MIRT857818	hsa-miR-4739	CLIP-seq
MIRT857819	hsa-miR-4756-5p	CLIP-seq
MIRT857820	hsa-miR-4768-3p	CLIP-seq
MIRT857821	hsa-miR-545	CLIP-seq
MIRT857822	hsa-miR-555	CLIP-seq
MIRT857823	hsa-miR-624	CLIP-seq
MIRT857824	hsa-miR-1262	CLIP-seq
MIRT857825	hsa-miR-1273f	CLIP-seq
MIRT857799	hsa-miR-1321	CLIP-seq
MIRT857826	hsa-miR-143	CLIP-seq
MIRT857804	hsa-miR-3126-5p	CLIP-seq
MIRT857827	hsa-miR-3689d	CLIP-seq
MIRT857811	hsa-miR-4291	CLIP-seq
MIRT857828	hsa-miR-4701-3p	CLIP-seq
MIRT857829	hsa-miR-4708-5p	CLIP-seq
MIRT857817	hsa-miR-4728-5p	CLIP-seq
MIRT857818	hsa-miR-4739	CLIP-seq
MIRT857819	hsa-miR-4756-5p	CLIP-seq
MIRT857830	hsa-miR-4770	CLIP-seq
MIRT857821	hsa-miR-545	CLIP-seq
MIRT857831	hsa-miR-576-3p	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1546045	hsa-miR-3614-5p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1546046	hsa-miR-432	CLIP-seq
MIRT1546047	hsa-miR-4443	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT1546049	hsa-miR-765	CLIP-seq
MIRT1546050	hsa-miR-890	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT1954731	hsa-miR-3117-5p	CLIP-seq
MIRT1954732	hsa-miR-3174	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1954733	hsa-miR-3663-3p	CLIP-seq
MIRT1954734	hsa-miR-409-5p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1954735	hsa-miR-4254	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT1954736	hsa-miR-4450	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT1954737	hsa-miR-4704-5p	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT1954738	hsa-miR-522	CLIP-seq
MIRT1954739	hsa-miR-539	CLIP-seq
MIRT1954740	hsa-miR-619	CLIP-seq
MIRT1954741	hsa-miR-921	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT2192308	hsa-miR-1207-5p	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT2192309	hsa-miR-3151	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1546045	hsa-miR-3614-5p	CLIP-seq
MIRT1954733	hsa-miR-3663-3p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1954735	hsa-miR-4254	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT1546046	hsa-miR-432	CLIP-seq
MIRT1546047	hsa-miR-4443	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT2192310	hsa-miR-4723-5p	CLIP-seq
MIRT2192311	hsa-miR-4763-3p	CLIP-seq
MIRT1954740	hsa-miR-619	CLIP-seq
MIRT1546049	hsa-miR-765	CLIP-seq
MIRT1546050	hsa-miR-890	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence
GO:0005245	Function	Voltage-gated calcium channel activity	IBA
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035265	Process	Organ growth	IEA
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0060024	Process	Rhythmic synaptic transmission	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:0098982	Component	GABA-ergic synapse	IEA

MIM	HGNC	e!Ensembl
607082	1400	ENSG00000007402

Q9NY47

Protein name

Voltage-dependent calcium channel subunit alpha-2/delta-2 (Voltage-gated calcium channel subunit alpha-2/delta-2) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-2; Voltage-dependent calcium channel subunit delta-2]

Protein function

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B),

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08399	VWA_N	141 → 265	VWA N-terminal	Family
PF00092	VWA	291 → 464	von Willebrand factor type A domain	Domain
PF08473	VGCC_alpha2	669 → 1111	Neuronal voltage-dependent calcium channel alpha 2acd	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly present in cerebellar cortex. Present in various lung tumor cell lines, while it is absent in normal lung (at protein level). Highly expressed in heart, lung, testis, pancreas and skeletal muscle. Also expressed in kidney

Sequence

MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGAS
AYSFPQQHTMQHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLFEVQENEPQKLVEKVA
GDIESLLDRKVQALKRLADAAENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVER
GSKASTLRLDFIEDPNFKNKVNYSYAAVQIPTDIYKGSTVILNELNWTEALENVFMENRR
QDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSG
SVSGLTLKLMKTSVCEMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAV
QGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRT
VRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEA
KQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVMGIDVALNDIKRLTPN
YTLGANGYVFAIDLNGYVLLHPNLKPQTTNFREPVTLDFLDAELEDENKEEIRRSMIDGN
KGHKQIRTLVKSLDERYIDEVTRNYTWVPIRSTNYSLGLVLPPYSTFYLQANLSDQILQV
KLPISKLKDFEFLLPSSFESEGHVFIAPREYCKDLNASDNNTEFLKNFIELMEKVTPDSK
QCNNFLLHNLILDTGITQQLVERVWRDQDLNTYSLLAVFAATDGGITRVFPNKAAEDWTE
NPEPFNASFYRRSLDNHGYVFKPPHQDALLRPLELENDTVGILVSTAVELSLGRRTLRPA
VVGVKLDLEAWAEKFKVLASNRTHQDQPQKCGPNSHCEMDCEVNNEDLLCVLIDDGGFLV
LSNQNHQWDQVGRFFSEVDANLMLALYNNSFYTRKESYDYQAACAPQPPGNLGAAPRGVF
VPTVADFLNLAWWTSAAAWSLFQQLLYGLIYHSWFQADPAEAEGSPETRESSCVMKQTQY
YFGSVNASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEAGRLLQKETHSDGP
EQCELVQRPRYRRGPHICFDYNATEDTSDCGRGASFPPSLGVLVSLQLLLLLGLPPRPQP
QVLVHASRRL

Sequence length

1150

Interactions

View interactions

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar atrophy with seizures and variable developmental delay	Likely pathogenic; Pathogenic	rs1451909068, rs587777165, rs1477583336, rs1704971986, rs2106640003, rs2106661644, rs2470971793, rs2471029525, rs2471323674, rs1307891196, rs587776948, rs1559887808, rs1575578837, rs1575580823	RCV005635133 RCV000087148 RCV001784064 RCV002052069 RCV002251267 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2106654236, rs1705277912, rs2107204955, rs2107090466, rs1451909068, rs2106702374, rs1378156947, rs1553730120, rs2106640384, rs1553726252, rs2109395463, rs2109411685, rs2109400528, rs2109421369, rs2106664189 View all (32 more)	RCV001378236 RCV001379187 RCV001378899 RCV001387406 RCV001383058 View all (43 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1485894376	RCV000785882	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATAXIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN HEREDITARY CHOREA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CACNA2D2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA, BENIGN FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ABSENCE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence Seizure Disorder	Absence Seizure	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Akinetic Petit Mal	Akinetic Petit Mal	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31402629	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Hereditary Chorea	Benign Hereditary Chorea	CTD_human_DG	14660671		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	24358150, 29997391, 31402629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	7528359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21691751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22139571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33742056	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12771950, 15208675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	GENOMICS_ENGLAND_DG	15331424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	31402629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	31402629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	21809394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	21809394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea, Senile	Chorea	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive chorea	Huntington disease	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28460460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32074080, 37352078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	15331424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	20561025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Absence, Atypical	Epilepsy	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Minor	Epilepsy	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	24358150, 31402629		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31402629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	25619833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	15331424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Chorea	Hereditary Chorea	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37047559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12555074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23237220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21691751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12771950, 15208675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25619833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28420414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple Syrup Urine Disease	BEFREE	31235756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple syrup urine disease	Pubtator	31235756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28420414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	15027117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11980673, 12771950, 21809394, 22139571, 28460460		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31402629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	40158290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11085536, 31190878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25619833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatic Chorea	Rheumatic Chorea	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31402629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT syndrome	Short syndrome	Pubtator	29016797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subfertility, Female	Subfertility	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	14660671		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2)