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

361

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Likely pathogenic; Pathogenic	rs760956030	RCV001814174
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 RCV002249364 RCV002249365 RCV002465037 RCV005863711 RCV000007266 RCV005429016 RCV000505540 RCV000050235 RCV001843355 RCV001255865 RCV001310220
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 RCV004816803 RCV002247764 RCV002247766 RCV002465037 RCV005863711 RCV000007263 RCV000007264 RCV000007265 RCV000055846 RCV000007268 RCV003158018 RCV003447463 RCV003447464 RCV003989250 RCV003990854 RCV004527525 RCV005429016 RCV003988848 RCV000578154 RCV000656495 RCV000710065 RCV000055847 RCV001027540 RCV005416121
CLCN7-related disorder	Likely pathogenic; Pathogenic	rs760956030, rs397515539, rs2038825509	RCV003900059 RCV003415823 RCV004727123
Disorder of bone	Likely pathogenic; Pathogenic	rs1291061962, rs760956030	RCV006269400 RCV006268823
Hypopigmentation, organomegaly, and delayed myelination and development	Likely pathogenic; Pathogenic	rs2142378398, rs757198557, rs1057517718	RCV001814660 RCV005863711 RCV000824813

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance	rs1400598641	RCV005932077
Autosomal recessive osteopetrosis	Uncertain significance	rs2038859358	RCV005863654
Cervical cancer	Likely benign	rs760335394	RCV005936609
Colon adenocarcinoma	Uncertain significance	rs201783415	RCV005922864
Connective tissue disorder	Benign; Likely benign	rs115310976	RCV002279670
Familial cancer of breast	Benign	rs8061743	RCV005914940
Glioma susceptibility 1	Likely benign	rs140154323	RCV005930489
Hepatocellular carcinoma	Likely benign	rs202022689	RCV005906327
Lung cancer	Benign; Likely benign	rs34252668, rs760335394	RCV005924645 RCV005936610
Nonpapillary renal cell carcinoma	Uncertain significance	rs758816489	RCV005913776
Osteopetrosis	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs3751884, rs41286695, rs114827619, rs11860968, rs35915213, rs35939214, rs117461525, rs12926669, rs2235579, rs12935737, rs12923538, rs35280276, rs376387077, rs143409179, rs886051689 View all (133 more)	RCV000398254 RCV000330407 RCV001121922 RCV000324195 RCV000331309 RCV000387614 RCV000334768 RCV000394061 RCV000303073 RCV000390148 RCV000280202 RCV000283791 RCV000333163 RCV000316006 RCV000287001 RCV000347709 RCV000260289 RCV000320076 RCV000345757 RCV000390532 RCV000263541 RCV000302318 RCV000266683 RCV000270223 RCV000394067 RCV000361717 RCV000368711 RCV000375913 RCV000341162 RCV000398239 RCV000287433 RCV000297611 RCV000354861 RCV000319928 RCV000387689 RCV000280695 RCV000396092 RCV000266296 RCV000323752 RCV000378392 RCV000314035 RCV000352463 RCV000308222 RCV000365282 RCV000273029 RCV000334056 RCV000372404 RCV000344700 RCV000309644 RCV000277614 RCV000306818 RCV000400411 RCV000312804 RCV000367733 RCV000277873 RCV000314129 RCV000354963 RCV000374837 RCV000288498 RCV000349144 RCV000395291 RCV000298857 RCV000355774 RCV000362416 RCV000292653 RCV000296159 RCV000280783 RCV000398231 RCV000313079 RCV000370036 RCV000262162 RCV000260830 RCV000375266 RCV000340404 RCV000376867 RCV000342114 RCV000383996 RCV000292007 RCV000359390 RCV000327745 RCV000384564 RCV000276470 RCV000318862 RCV000366516 RCV001118588 RCV001121925 RCV001115341 RCV001115342 RCV001121924 RCV001115425 RCV001118590 RCV001121921 RCV001115423 RCV001120130 RCV001120131 RCV000338192 RCV001118406 RCV001118187 RCV001119738 RCV001119739 RCV001119740 RCV001119741 RCV001121714 RCV001121715 RCV001116851 RCV001116852 RCV001116853 RCV001118302 RCV001118303 RCV001118304 RCV001118305 RCV001119833 RCV001119834 RCV001121817 RCV001121818 RCV001115248 RCV001115249 RCV001115250 RCV001115251 RCV001118402 RCV001118403 RCV001118404 RCV001118405 RCV001119937 RCV001119939 RCV001119940 RCV001121919 RCV001115340 RCV001115343 RCV001118493 RCV001118495 RCV001118496 RCV001120015 RCV001120016 RCV001120325 RCV001120326 RCV001120327 RCV001115424 RCV001118589 RCV001120129 RCV001120412 RCV001120413 RCV001119938 RCV001121920 RCV001121923 RCV001115339 RCV001118494 RCV001120017 RCV001120126 RCV001120127 RCV001120128
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs139649449	RCV005907544
See cases	Uncertain significance	rs1396008150	RCV002252483
Thymoma	Benign	rs34252668	RCV005924644
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs139649449	RCV005907545
Uterine carcinosarcoma	Benign	rs34252668	RCV005924643
Uveal melanoma	Uncertain significance	rs762701523	RCV005936623

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Renal Tubular	Associate	27540713
ACTH Secreting Pituitary Adenoma	Associate	35902893
Anemia Myelophthisic	Associate	36162965
Anterior Cruciate Ligament Injuries	Associate	35902893
Blindness	Associate	27540713
Bone Marrow Neoplasms	Associate	34545712
Bone Resorption	Associate	16813529, 35618777
Central Nervous System Infections	Associate	14584882
Central Nervous System Vascular Malformations	Associate	33905594
Chronic Kidney Disease Mineral and Bone Disorder	Associate	24108692
Cranial Nerve Diseases	Associate	35370969
Epilepsy	Associate	27540713
Fractures Bone	Associate	27540713, 30759959, 35370969, 35618777
Glioma	Associate	12843258
Hematologic Diseases	Associate	35370969
Hyperlipoproteinemia Type II	Associate	25410126
Lysosomal Storage Diseases	Associate	21527911, 32851177
Muscular Dystrophy Duchenne	Associate	16234969
Nasopharyngeal Carcinoma	Associate	22496242
Neoplasms	Associate	25410126
Osteopetrosis	Associate	12929941, 14584882, 15111300, 15177004, 16234969, 16813529, 20424301, 20499337, 21527911, 24084574, 24108692, 24336069, 25410126, 27468155, 27540713 View all (16 more)
Osteopetrosis autosomal dominant type 1	Associate	27540713, 33105733, 33318240
Osteopetrosis Autosomal Recessive 1	Associate	19507210, 20424301, 39875016
Osteopetrosis Autosomal Recessive 6	Associate	25410126
Osteopetrosis mild autosomal recessive form	Associate	20424301, 28816234, 30763735, 32691986, 33905594, 34545712, 35618777
Osteoporosis	Associate	23390581
Osteoporosis pseudoglioma syndrome	Associate	27540713
Osteosclerosis	Associate	27540713
Prostatitis	Associate	35422809
Raine syndrome	Associate	16813529
Severe Acute Respiratory Syndrome	Associate	25410126
Silicosiderosis	Associate	24108692
Uveitis Anterior	Associate	32492107

CLCN7 (chloride voltage-gated channel 7)