CLCN7 (chloride voltage-gated channel 7)

Gene

• Entrez ID: 1186
• Gene name: Chloride voltage-gated channel 7
• Gene symbol: CLCN7
• Synonyms: CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005247	Function	Voltage-gated chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	TAS	8543009
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	TAS
GO:0015108	Function	Chloride transmembrane transporter activity	IBA	21873635
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:1902476	Process	Chloride transmembrane transport	IEA

Other IDs

• MIM: 602727
• HGNC: 2025
• e!Ensembl: ENSG00000103249

Protein

• UniProt ID: 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

• Sequence:

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

• Sequence length: 805

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Osteomyelitis	Osteomyelitis	rs11125529, rs10936599, rs7675998, rs398652, rs755017
Osteopetrosis	Osteopetrosis, Osteopetrosis - intermediate type, Osteopetrosis, Autosomal Recessive 6, Osteopetrosis, Autosomal Recessive 4, Osteopetrosis Autosomal Dominant Type 2, Intermediate osteopetrosis	rs786205055, rs1562370077, rs119460973, rs1554996130, rs137853149, rs751881962, rs137853150, rs137853151, rs2134438856, rs121908669, rs121908670, rs121908671, rs121908673, rs121908655, rs121908656, rs121908658, rs121908659, rs121434432, rs121434433, rs121434434, rs121434435, rs121434436, rs2137905441, rs121909072, rs863223288, rs398123011, rs387907576, rs397515539, rs267603829, rs587777490, rs139617644, rs794727287, rs573750741, rs886048594, rs777785526, rs1057517365, rs760956030, rs757788894, rs1554250938, rs367567630, rs1208311085, rs1554995350, rs1554995341, rs774308815, rs1458295257, rs1554997884, rs200851583, rs1554998061, rs758977199, rs1554999516, rs371263807, rs1475338876, rs917505107, rs1554995381, rs1554995582, rs1554995706, rs1554997818, rs1554997997, rs748659068, rs377303800, rs1554995009, rs1554999205, rs1300297240, rs1554995330, rs1385741705, rs1554995522, rs1392364437, rs749361897, rs1159666762, rs1269558164, rs1489993984, rs1439348400, rs559224144, rs1567759023, rs1567263375, rs1565156743, rs1590817956, rs1590819834, rs377215024, rs1582396088, rs1353879401, rs1590804397, rs1590819770, rs922106856, rs776436008, rs1855347940, rs761918801, rs1064794323	12522560, 17033731, 11207362, 14584882, 11741829, 26395888, 26477479, 19953639, 19953639, 26395888, 19288050, 14584882, 11741829
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954

Unknown
Disease name	Disease term	dbSNP ID	References
Albers-schonberg osteopetrosis	Albers-Schönberg osteopetrosis
Cerebellar atrophy	Cerebellar atrophy
Congenital osteopetrosis	Congenital Osteopetrosis
Cranial nerve paralysis	Cranial nerve palsies
Dwarfism	Dwarfism
Facial paralysis	Facial paralysis
Frontal bossing	Frontal bossing
Hypopigmentation disorder	Hypopigmentation disorder
Malignant osteopetrosis	Infantile malignant osteopetrosis, Autosomal recessive malignant osteopetrosis		22419446, 23877423, 20424301
Opsoclonus	Opsoclonus
Osteoarthritis of hip	Osteoarthritis of hip
Mandibular osteomyelitis	Osteomyelitis of mandible
Osteosclerosis	Osteosclerosis
Otitis media	Otitis Media	rs601338, rs1047781, rs1800028
Rhinitis	Chronic rhinitis