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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1181
Gene name	Chloride voltage-gated channel 2
Gene symbol	CLCN2
Synonyms (NCBI Gene)	CIC-2CLC2ECA2ECA3EGI11EGI3EGMAEJM6EJM8FHA2FHIIHALD2LKPATclC-2
Chromosome	3
Chromosome location	3q27.1
Summary	This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding diffe

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs71318369	C>T	Risk-factor, uncertain-significance	Intron variant, coding sequence variant, missense variant, non coding transcript variant
rs137852682	C>G,T	Risk-factor, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs141242566	C>A,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs201330912	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs376823689	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs515726131	->C	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs532632165	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs587777110	TGAGGA>-	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, inframe deletion, genic upstream transcript variant
rs587777111	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587777112	->C	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs758379595	A>G,T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs771507094	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs777105668	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225249	C>G	Pathogenic	Intron variant, upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs863225250	G>A,C	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs863225251	G>ATGAGCAGT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs863225252	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs863225253	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225254	C>T	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs863225255	AC>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs863225256	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1085307938	C>T	Pathogenic, likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1293789661	C>T	Pathogenic	Upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1478304584	C>T	Pathogenic	Intron variant, splice acceptor variant, non coding transcript variant
rs1553855606	CACC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553856214	T>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553857113	A>T	Pathogenic	Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017077	hsa-miR-335-5p	Microarray	18185580
MIRT052784	hsa-miR-1260b	CLASH	23622248

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005247	Function	Voltage-gated chloride channel activity	IBA
GO:0005247	Function	Voltage-gated chloride channel activity	IDA	16155254, 29403011, 36964785
GO:0005247	Function	Voltage-gated chloride channel activity	IEA
GO:0005247	Function	Voltage-gated chloride channel activity	TAS	7795595
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	26871637
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	29403011
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IBA
GO:0006821	Process	Chloride transport	IEA
GO:0006911	Process	Phagocytosis, engulfment	IMP	36964785
GO:0008308	Function	Voltage-gated monoatomic anion channel activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	16155254
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0017081	Function	Chloride channel regulator activity	IMP	38345841
GO:0030322	Process	Stabilization of membrane potential	IEA
GO:0030324	Process	Lung development	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0032347	Process	Regulation of aldosterone biosynthetic process	IMP	29403011
GO:0032591	Component	Dendritic spine membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043209	Component	Myelin sheath	IDA	22405205
GO:0043209	Component	Myelin sheath	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060075	Process	Regulation of resting membrane potential	IEA
GO:0060689	Process	Cell differentiation involved in salivary gland development	IEA
GO:0065008	Process	Regulation of biological quality	IEA
GO:0071476	Process	Cellular hypotonic response	IEA
GO:0072320	Function	Volume-sensitive chloride channel activity	IEA
GO:0090425	Process	Acinar cell differentiation	IEA
GO:0097450	Component	Astrocyte end-foot	IDA	22405205
GO:0097450	Component	Astrocyte end-foot	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098902	Process	Regulation of membrane depolarization during action potential	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
600570	2020	ENSG00000114859

P51788

Protein name

Chloride channel protein 2 (ClC-2)

Protein function

Voltage-gated and osmosensitive chloride channel. Forms a homodimeric channel where each subunit has its own ion conduction pathway. Conducts double-barreled currents controlled by two types of gates, two fast glutamate gates that control each s

PDB

7XF5 , 7XJA , 8GQU , 8TA2 , 8TA3 , 8TA4 , 8TA5 , 8TA6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00654	Voltage_CLC	143 → 547	Voltage gated chloride channel	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells. Expressed in the adrenal gland, predominantly in the zona glomerulosa (PubMed:29

Sequence

MAAAAAEEGMEPRALQYEQTLMYGRYTQDLGAFAKEEAARIRLGGPEPWKGPPSSRAAPE
LLEYGRSRCARCRVCSVRCHKFLVSRVGEDWIFLVLLGLLMALVSWVMDYAIAACLQAQQ
WMSRGLNTSILLQYLAWVTYPVVLITFSAGFTQILAPQAVGSGIPEMKTILRGVVLKEYL
TLKTFIAKVIGLTCALGSGMPLGKEGPFVHIASMCAALLSKFLSLFGGIYENESRNTEML
AAACAVGVGCCFAAPIGGVLFSIEVTSTFFAVRNYWRGFFAATFSAFIFRVLAVWNRDEE
TITALFKTRFRLDFPFDLQELPAFAVIGIASGFGGALFVYLNRKIVQVMRKQKTINRFLM
RKRLLFPALVTLLISTLTFPPGFGQFMAGQLSQKETLVTLFDNRTWVRQGLVEELEPPST
SQAWNPPRANVFLTLVIFILMKFWMSALATTIPVPCGAFMPVFVIGAAFGRLVGESMAAW
FPDGIHTDSSTYRIVPGGYAVVGAAALAGAVTHTVSTAVIVFELTGQIAHILPVMIAVIL
ANAVAQSLQPSLYDSIIRIKKLPYLPELGWGRHQQYRVRVEDIMVRDVPHVALSCTFRDL
RLALHRTKGRMLALVESPESMILLGSIERSQVVALLGAQLSPARRRQHMQERRATQTSPL
SDQEGPPTPEASVCFQVNTEDSAFPAARGETHKPLKPALKRGPSVTRNLGESPTGSAESA
GIALRSLFCGSPPPEAASEKLESCEKRKLKRVRISLASDADLEGEMSPEEILEWEEQQLD
EPVNFSDCKIDPAPFQLVERTSLHKTHTIFSLLGVDHAYVTSIGRLIGIVTLKELRKAIE
GSVTAQGVKVRPPLASFRDSATSSSDTETTEVHALWGPHSRHGLPREGSPSDSDDKCQ

Sequence length

898

Interactions

View interactions

	KEGG		Reactome
	Mineral absorption		Stimuli-sensing channels

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CLCN2-related disorder	Likely pathogenic; Pathogenic	rs201330912, rs756385625, rs201976983, rs771507094, rs863225251, rs1055985062, rs2474235576, rs2474240689, rs762516598, rs2474277095	RCV004689607 RCV004738360 RCV002510261 RCV004553102 RCV003235126 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, idiopathic generalized, susceptibility to, 11	Likely pathogenic; Pathogenic	rs201330912, rs141074059, rs756385625, rs1458831101, rs863225252, rs863225250, rs762516598, rs1293789661	RCV002490754 RCV002501901 RCV002496011 RCV001731114 RCV005031771 RCV005031769 RCV005036866 RCV002481647 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hyperaldosteronism type II	Likely pathogenic; Pathogenic	rs201330912, rs141074059, rs756385625, rs771507094, rs863225252, rs863225250, rs762516598, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595	RCV002490754 RCV002501901 RCV002496011 RCV003992233 RCV005031771 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema	Pathogenic; Likely pathogenic	rs1245141384, rs201330912, rs587777110, rs587777111, rs587777112, rs141074059, rs756385625, rs376823689, rs771507094, rs863225252, rs863225251, rs863225250, rs2474246529, rs762887805, rs762516598 View all (3 more)	RCV001335132 RCV000087029 RCV000087030 RCV000087031 RCV000087032 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs141074059	RCV005916322	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (41)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar affective disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM DEMYELINATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebral palsy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNS demyelination	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy, familial focal, with variable foci 2	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, IDIOPATHIC GENERALIZED	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM, FAMILIAL, TYPE II	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GENERALIZED EPILEPSY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JUVENILE MYOCLONIC EPILEPSY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic gait	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (78)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arteriosclerosis	Arteriosclerosis	BEFREE	31206525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31206525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	31996765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33340691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	23707145	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cognition Disorders	Cognition disorder	Pubtator	23707145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24030525, 30285466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	31491746, 31585437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	29403011, 29403012, 30949771, 31615979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	CTD_human_DG	29403012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11071306, 11401826, 15507145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	9520461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	23707145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30404071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	15505175		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	BEFREE	16932951, 17156979, 19191339, 31054517		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	17156979, 31056551	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy Absence	Absence epilepsy	Pubtator	17580110, 40147727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	17580110, 23632988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	12612585, 15021241, 15252188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	12612585, 15252188, 15508929, 16932951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	23707145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	23934342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12843258		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	LHGDN	12843258		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	12843258		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	12843258	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glucocortocoid-insensitive primary hyperaldosteronism	Glucocortocoid-Insensitive Hyperaldosteronism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	23707145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	CTD_human_DG	29403012		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	BEFREE	30949771, 31615979		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism Familial Type II	Hyperaldosteronism	Pubtator	29403011, 36384999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism, Familial, Type II	Hyperaldosteronism	CTD_human_DG	29403011		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism, Familial, Type II	Hyperaldosteronism	UNIPROT_DG	29403011, 29403012		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism, Familial, Type II	Hyperaldosteronism	CLINVAR_DG	29403012		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism, Familial, Type II	Hyperaldosteronism	BEFREE	30949771		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	31615979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	12612585, 15252188, 16932951, 19191339, 23632988		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic generalized epilepsy	Epilepsy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	12612585, 19191339, 23756480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile myoclonic epilepsy	Myoclonic Epilepsy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16302872, 16302874, 19298753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	BEFREE	24647135, 26033718, 28905383, 31291907, 31479171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	23707145, 26033718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	23707145, 24647135, 28398517, 28695146, 28905383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY WITH ATAXIA	Leukoencephalopathy With Ataxia	CLINVAR_DG	12612585, 21703448, 23707145, 25128180, 25745790		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY WITH ATAXIA	Leukoencephalopathy With Ataxia	GENOMICS_ENGLAND_DG	19191339, 19710712, 23707145, 24357685, 25655951		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY WITH ATAXIA	Leukoencephalopathy With Ataxia	UNIPROT_DG	23707145		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY WITH ATAXIA	Leukoencephalopathy With Ataxia	ORPHANET_DG	23707145		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY WITH ATAXIA	Leukoencephalopathy With Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy with mild cerebellar ataxia and white matter edema	Leukoencephalopathy With Mild Cerebellar Ataxia And White Matter Edema	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung diseases	Lung Diseases	BEFREE	15507145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	32439996	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	CTD_human_DG	12843258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26491211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10554024		★★★★★ ★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	20187760, 23793458, 24647135, 28905383, 29079544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29550812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migrating partial seizures in infancy	Migrating Partial Seizures In Infancy	BEFREE	16168594		★★★★★ ★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	12843258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	BEFREE	19191339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	LHGDN	17882904		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23707145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29550812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29550812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Photosensitive tonic-clonic seizures	Photosensitive tonic-clonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26491211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26491211, 36246902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23707145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	24030525		★★★★★ ★☆☆☆☆ Found in Text Mining only

CLCN2 (chloride voltage-gated channel 2)