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	1186
Gene name	Chloride voltage-gated channel 7
Gene symbol	CLCN7
Synonyms (NCBI Gene)	CLC-7CLC7HODOPTA2OPTB4PPP1R63
Chromosome	16
Chromosome location	16p13.3
Summary	The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of ost

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434432	G>A	Pathogenic	Coding sequence variant, stop gained
rs121434433	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121434434	A>G	Pathogenic	Coding sequence variant, missense variant
rs121434435	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434436	T>A	Pathogenic	Coding sequence variant, missense variant
rs387907576	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397515539	C>T	Pathogenic	Missense variant, coding sequence variant
rs757788894	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs760956030	C>T	Pathogenic	Missense variant, coding sequence variant
rs922106856	C>T	Pathogenic	Intron variant
rs1057517718	T>C	Pathogenic	Coding sequence variant, missense variant
rs1163577336	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1322266202	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555465963	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1567263375	C>A	Pathogenic	Splice donor variant

152

Show/Hide all (152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045747	hsa-miR-125a-5p	CLASH	23622248
MIRT039129	hsa-miR-769-3p	CLASH	23622248
MIRT617790	hsa-miR-8485	HITS-CLIP	23824327
MIRT617789	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT617787	hsa-miR-4308	HITS-CLIP	23824327
MIRT617788	hsa-miR-4292	HITS-CLIP	23824327
MIRT617786	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT617785	hsa-miR-3151-3p	HITS-CLIP	23824327
MIRT617784	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT486540	hsa-miR-3929	PAR-CLIP	23592263
MIRT486539	hsa-miR-4419b	PAR-CLIP	23592263
MIRT486538	hsa-miR-4478	PAR-CLIP	23592263
MIRT486537	hsa-miR-665	PAR-CLIP	23592263
MIRT486536	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT486535	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT486534	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT486532	hsa-miR-5194	PAR-CLIP	23592263
MIRT486533	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT486531	hsa-miR-4706	PAR-CLIP	23592263
MIRT486530	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT486529	hsa-miR-7160-5p	PAR-CLIP	23592263
MIRT486528	hsa-miR-6077	PAR-CLIP	23592263
MIRT486527	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT486526	hsa-miR-663a	PAR-CLIP	23592263
MIRT486525	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT486524	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT486523	hsa-miR-3180	PAR-CLIP	23592263
MIRT486522	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT486521	hsa-miR-3196	PAR-CLIP	23592263
MIRT486520	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT486518	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT617790	hsa-miR-8485	HITS-CLIP	23824327
MIRT617789	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT617787	hsa-miR-4308	HITS-CLIP	23824327
MIRT617788	hsa-miR-4292	HITS-CLIP	23824327
MIRT617786	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT617785	hsa-miR-3151-3p	HITS-CLIP	23824327
MIRT617784	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT486540	hsa-miR-3929	PAR-CLIP	23592263
MIRT486539	hsa-miR-4419b	PAR-CLIP	23592263
MIRT486538	hsa-miR-4478	PAR-CLIP	23592263
MIRT486537	hsa-miR-665	PAR-CLIP	23592263
MIRT486536	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT486535	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT486534	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT486532	hsa-miR-5194	PAR-CLIP	23592263
MIRT486533	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT486531	hsa-miR-4706	PAR-CLIP	23592263
MIRT486530	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT486529	hsa-miR-7160-5p	PAR-CLIP	23592263
MIRT486528	hsa-miR-6077	PAR-CLIP	23592263
MIRT486527	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT486526	hsa-miR-663a	PAR-CLIP	23592263
MIRT486525	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT486524	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT486523	hsa-miR-3180	PAR-CLIP	23592263
MIRT486522	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT486521	hsa-miR-3196	PAR-CLIP	23592263
MIRT486520	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT486518	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT894854	hsa-miR-1321	CLIP-seq
MIRT894855	hsa-miR-3120-5p	CLIP-seq
MIRT894856	hsa-miR-3162-5p	CLIP-seq
MIRT894857	hsa-miR-3651	CLIP-seq
MIRT894858	hsa-miR-377	CLIP-seq
MIRT894859	hsa-miR-3940-3p	CLIP-seq
MIRT894860	hsa-miR-4739	CLIP-seq
MIRT894861	hsa-miR-4756-5p	CLIP-seq
MIRT894862	hsa-miR-602	CLIP-seq
MIRT894863	hsa-miR-760	CLIP-seq
MIRT894864	hsa-miR-1293	CLIP-seq
MIRT894865	hsa-miR-1294	CLIP-seq
MIRT894854	hsa-miR-1321	CLIP-seq
MIRT894866	hsa-miR-1915	CLIP-seq
MIRT894867	hsa-miR-1972	CLIP-seq
MIRT894868	hsa-miR-298	CLIP-seq
MIRT894855	hsa-miR-3120-5p	CLIP-seq
MIRT894869	hsa-miR-3154	CLIP-seq
MIRT894870	hsa-miR-3167	CLIP-seq
MIRT894871	hsa-miR-3184	CLIP-seq
MIRT894872	hsa-miR-3616-3p	CLIP-seq
MIRT894873	hsa-miR-3620	CLIP-seq
MIRT894874	hsa-miR-4316	CLIP-seq
MIRT894875	hsa-miR-4419a	CLIP-seq
MIRT894876	hsa-miR-4436b-3p	CLIP-seq
MIRT894877	hsa-miR-4483	CLIP-seq
MIRT894878	hsa-miR-4497	CLIP-seq
MIRT894879	hsa-miR-4510	CLIP-seq
MIRT894880	hsa-miR-4656	CLIP-seq
MIRT894881	hsa-miR-4677-3p	CLIP-seq
MIRT894882	hsa-miR-4690-3p	CLIP-seq
MIRT894883	hsa-miR-4721	CLIP-seq
MIRT894884	hsa-miR-4726-3p	CLIP-seq
MIRT894860	hsa-miR-4739	CLIP-seq
MIRT894885	hsa-miR-4755-3p	CLIP-seq
MIRT894861	hsa-miR-4756-5p	CLIP-seq
MIRT894886	hsa-miR-4779	CLIP-seq
MIRT894887	hsa-miR-485-5p	CLIP-seq
MIRT894862	hsa-miR-602	CLIP-seq
MIRT894888	hsa-miR-615-5p	CLIP-seq
MIRT894863	hsa-miR-760	CLIP-seq
MIRT894889	hsa-miR-876-5p	CLIP-seq
MIRT894864	hsa-miR-1293	CLIP-seq
MIRT894854	hsa-miR-1321	CLIP-seq
MIRT1965384	hsa-miR-223	CLIP-seq
MIRT894856	hsa-miR-3162-5p	CLIP-seq
MIRT894871	hsa-miR-3184	CLIP-seq
MIRT1965385	hsa-miR-342-5p	CLIP-seq
MIRT894873	hsa-miR-3620	CLIP-seq
MIRT1965386	hsa-miR-4277	CLIP-seq
MIRT894875	hsa-miR-4419a	CLIP-seq
MIRT894877	hsa-miR-4483	CLIP-seq
MIRT894879	hsa-miR-4510	CLIP-seq
MIRT1965387	hsa-miR-4632	CLIP-seq
MIRT1965388	hsa-miR-4664-5p	CLIP-seq
MIRT1965389	hsa-miR-4667-5p	CLIP-seq
MIRT1965390	hsa-miR-4700-5p	CLIP-seq
MIRT894860	hsa-miR-4739	CLIP-seq
MIRT894861	hsa-miR-4756-5p	CLIP-seq
MIRT1965391	hsa-miR-4763-5p	CLIP-seq
MIRT894886	hsa-miR-4779	CLIP-seq
MIRT894887	hsa-miR-485-5p	CLIP-seq
MIRT1965392	hsa-miR-937	CLIP-seq
MIRT2201346	hsa-miR-150	CLIP-seq
MIRT2201347	hsa-miR-3647-3p	CLIP-seq
MIRT2201348	hsa-miR-3662	CLIP-seq
MIRT2201349	hsa-miR-499-3p	CLIP-seq
MIRT2201350	hsa-miR-499a-3p	CLIP-seq
MIRT894862	hsa-miR-602	CLIP-seq
MIRT2201351	hsa-miR-767-3p	CLIP-seq
MIRT1965387	hsa-miR-4632	CLIP-seq
MIRT894887	hsa-miR-485-5p	CLIP-seq
MIRT2678235	hsa-miR-1265	CLIP-seq
MIRT2678236	hsa-miR-15a	CLIP-seq
MIRT2678237	hsa-miR-15b	CLIP-seq
MIRT2678238	hsa-miR-16	CLIP-seq
MIRT2678239	hsa-miR-1908	CLIP-seq
MIRT2678240	hsa-miR-195	CLIP-seq
MIRT2678241	hsa-miR-214	CLIP-seq
MIRT894871	hsa-miR-3184	CLIP-seq
MIRT2678242	hsa-miR-3191	CLIP-seq
MIRT2678243	hsa-miR-3605-5p	CLIP-seq
MIRT2678244	hsa-miR-3619-5p	CLIP-seq
MIRT2678245	hsa-miR-424	CLIP-seq
MIRT894876	hsa-miR-4436b-3p	CLIP-seq
MIRT2678246	hsa-miR-4508	CLIP-seq
MIRT2678247	hsa-miR-4687-5p	CLIP-seq
MIRT2678248	hsa-miR-4764-5p	CLIP-seq
MIRT2678249	hsa-miR-486-3p	CLIP-seq
MIRT2678250	hsa-miR-497	CLIP-seq
MIRT2678251	hsa-miR-663	CLIP-seq
MIRT2678252	hsa-miR-761	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	TAS	8543009
GO:0005515	Function	Protein binding	IPI	32296183, 32814053, 32851177, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	21527911
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0009268	Process	Response to pH	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030321	Process	Transepithelial chloride transport	IBA
GO:0030321	Process	Transepithelial chloride transport	IDA	32851177
GO:0034707	Component	Chloride channel complex	IBA
GO:0034707	Component	Chloride channel complex	IPI	32851177
GO:0055085	Process	Transmembrane transport	IEA
GO:0062158	Function	Chloride:proton antiporter activity	IBA
GO:0062158	Function	Chloride:proton antiporter activity	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602727	2025	ENSG00000103249

P51798

Protein name

H(+)/Cl(-) exchange transporter 7 (Chloride channel 7 alpha subunit) (Chloride channel protein 7) (ClC-7)

Protein function

Slowly voltage-gated channel mediating the exchange of chloride ions against protons (PubMed:18449189, PubMed:21527911). Functions as antiporter and contributes to the acidification of the lysosome lumen and may be involved in maintaining lysoso

PDB

7BXU , 7CQ5 , 7CQ6 , 7CQ7 , 7JM7 , 8HVT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00654	Voltage_CLC	185 → 596	Voltage gated chloride channel	Family
PF00571	CBS	627 → 690	CBS domain	Domain
PF00571	CBS	737 → 793	CBS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain and kidney. {ECO:0000269|PubMed:31155284}.

Sequence

MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQSPRSALFRVGHMS
SVELDDELLDPDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFR
TVEIKRWVICALIGILTGLVACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWA
TLNAAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVG
GLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAA
FGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLSSPGLINF
GRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLV
AAVTATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHD
PPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAI
WADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEG
LYDMHIQLQSVPFLHWEAPVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNG
FPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRDAYPRFPP
IQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVG
LVTRKDLARYRLGKRGLEELSLAQT

Sequence length

805

Interactions

View interactions

	Reactome
			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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Likely pathogenic; Pathogenic	rs760956030	RCV001814174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant osteopetrosis 2	Likely pathogenic; Pathogenic	rs371893553, rs1291061962, rs2142378398, rs1233085260, rs2142378539, rs2142366092, rs1261991162, rs2505819682, rs757198557, rs121434435, rs1057517718, rs760956030, rs387907576, rs397515539, rs1064794323, rs2038825509 View all (1 more)	RCV001330544 RCV001843372 RCV001814660 RCV004785410 RCV002052291 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive osteopetrosis 4	Likely pathogenic; Pathogenic	rs371893553, rs368190250, rs1172932679, rs2142368980, rs2142378398, rs1490598538, rs1410701535, rs2038701489, rs2505819682, rs757198557, rs121434432, rs121434433, rs121434434, rs121434435, rs121434436 View all (14 more)	RCV003987835 RCV001375477 RCV001526494 RCV001526495 RCV001814660 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CLCN7-related disorder	Likely pathogenic; Pathogenic	rs760956030, rs397515539, rs2038825509	RCV003900059 RCV003415823 RCV004727123	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorder of bone	Likely pathogenic; Pathogenic	rs1291061962, rs760956030	RCV006269400 RCV006268823	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypopigmentation, organomegaly, and delayed myelination and development	Likely pathogenic; Pathogenic	rs2142378398, rs757198557, rs1057517718	RCV001814660 RCV005863711 RCV000824813	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

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	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR UVEITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive osteopetrosis	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL RECESSIVE OSTEOPETROSIS 6	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE OSTEOPETROSIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPETROSIS - INTERMEDIATE TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (84)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
	Albers-Schonberg Osteopetrosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	21790627, 28824633, 31403208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	21790627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior Cruciate Ligament Injuries	Anterior cruciate ligament injury	Pubtator	35902893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive malignant osteopetrosis	Malignant Osteopetrosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	27540713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	17164308, 19371798, 26395888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Neoplasms	Bone neoplasm	Pubtator	34545712	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	16813529, 35618777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23406793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Osteopetrosis	Congenital Osteopetrosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11459923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25943117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23406793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23406793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27540713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27540713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12843258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	12843258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31155284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	24159188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	35370969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	25410126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23406793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	31155284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile malignant osteopetrosis	Malignant Osteopetrosis	BEFREE	11207362, 12522560, 14584882, 19393632, 24159188, 26477479, 29926385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile malignant osteopetrosis	Malignant Osteopetrosis	ORPHANET_DG	20424301, 22419446, 23877423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intermediate osteopetrosis	Osteopetrosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Calculi	Kidney stone	BEFREE	27540713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	16234969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22496242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	27540713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23406793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opsoclonus	Opsoclonus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	LHGDN	17164308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis of mandible	Mandibular osteomyelitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	11207362, 11741829, 12522560, 14564431, 14584882, 15177004, 15706348, 17936098, 18755304, 18853181, 19953639, 20830208, 21947783, 21962762, 22847576 View all (19 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	LHGDN	12522560, 12929941, 14584882, 15111300, 16368748, 17164308		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	Pubtator	12929941, 14584882, 15111300, 15177004, 16234969, 16813529, 20424301, 20499337, 21527911, 24084574, 24108692, 24336069, 25410126, 27468155, 27540713 View all (16 more)	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis - intermediate type	Osteopetrosis	ORPHANET_DG	12522560		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis autosomal dominant type 1	Osteopetrosis and infantile neuroaxonal dystrophy	Pubtator	27540713, 33105733, 33318240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis	UNIPROT_DG	11741829, 14584882, 19288050, 19953639, 26395888		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis	ORPHANET_DG	11741829		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis	BEFREE	28942122, 29501587, 30889272		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis Autosomal Recessive 1	Osteopetrosis	Pubtator	19507210, 20424301, 39875016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis Autosomal Recessive 6	Osteopetrosis	Pubtator	25410126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis mild autosomal recessive form	Osteopetrosis	Pubtator	20424301, 28816234, 30763735, 32691986, 33905594, 34545712, 35618777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis	UNIPROT_DG	11207362, 11741829, 14584882, 17033731, 19953639, 26395888, 26477479		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis	GENOMICS_ENGLAND_DG	11741829		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	ORPHANET_DG	12522560		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	19393632, 20830208, 23390581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	23390581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	20424301, 22419446, 27540713, 27746321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosclerosis	Osteosclerosis	Pubtator	27540713	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosclerosis	Osteosclerosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otitis Media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	32492107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CLCN7 (chloride voltage-gated channel 7)