CA2 (carbonic anhydrase 2)

Gene

• Entrez ID: 760
• Gene name: Carbonic anhydrase 2
• Gene symbol: CA2
• Synonyms: CA-II, CAC, CAII, Car2, HEL-76, HEL-S-282
• Chromosome: 8
• Chromosome location: 8q21.2
• Summary: The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encodin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2228063	A>G	Pathogenic, benign, benign-likely-benign	Missense variant, coding sequence variant
rs118203932	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs118203933	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs779869368	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1203921376	C>G	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030094	hsa-miR-26b-5p	Sequencing	20371350
MIRT030094	hsa-miR-26b-5p	Microarray	19088304
MIRT050149	hsa-miR-26a-5p	CLASH	23622248
MIRT038519	hsa-miR-99b-3p	CLASH	23622248
MIRT323483	hsa-miR-23b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24670789
MIRT323483	hsa-miR-23b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24670789
MIRT856585	hsa-miR-1264	CLIP-seq
MIRT856586	hsa-miR-1297	CLIP-seq
MIRT856587	hsa-miR-203	CLIP-seq
MIRT856588	hsa-miR-23a	CLIP-seq
MIRT856589	hsa-miR-23b	CLIP-seq
MIRT856590	hsa-miR-23c	CLIP-seq
MIRT856591	hsa-miR-26a	CLIP-seq
MIRT856592	hsa-miR-26b	CLIP-seq
MIRT856593	hsa-miR-412	CLIP-seq
MIRT856594	hsa-miR-4465	CLIP-seq
MIRT856595	hsa-miR-4635	CLIP-seq
MIRT856596	hsa-miR-4729	CLIP-seq
MIRT856597	hsa-miR-554	CLIP-seq
MIRT856598	hsa-miR-601	CLIP-seq
MIRT2191911	hsa-miR-103a	CLIP-seq
MIRT2191912	hsa-miR-107	CLIP-seq
MIRT2191913	hsa-miR-1182	CLIP-seq
MIRT856585	hsa-miR-1264	CLIP-seq
MIRT856586	hsa-miR-1297	CLIP-seq
MIRT2191914	hsa-miR-143	CLIP-seq
MIRT2191915	hsa-miR-200b	CLIP-seq
MIRT2191916	hsa-miR-200c	CLIP-seq
MIRT856591	hsa-miR-26a	CLIP-seq
MIRT856592	hsa-miR-26b	CLIP-seq
MIRT2191917	hsa-miR-3065-5p	CLIP-seq
MIRT2191918	hsa-miR-3179	CLIP-seq
MIRT2191919	hsa-miR-3664-5p	CLIP-seq
MIRT2191920	hsa-miR-369-3p	CLIP-seq
MIRT2191921	hsa-miR-429	CLIP-seq
MIRT2191922	hsa-miR-4310	CLIP-seq
MIRT856594	hsa-miR-4465	CLIP-seq
MIRT2191923	hsa-miR-4714-5p	CLIP-seq
MIRT856596	hsa-miR-4729	CLIP-seq
MIRT2191924	hsa-miR-4735-5p	CLIP-seq
MIRT2191925	hsa-miR-4742-3p	CLIP-seq
MIRT2191926	hsa-miR-4770	CLIP-seq
MIRT2191927	hsa-miR-505	CLIP-seq
MIRT2191928	hsa-miR-579	CLIP-seq
MIRT856598	hsa-miR-601	CLIP-seq
MIRT2191929	hsa-miR-618	CLIP-seq
MIRT2191930	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
JUN	Unknown	11382925

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0004064	Function	Arylesterase activity	IMP	3126084
GO:0004089	Function	Carbonate dehydratase activity	IBA	21873635
GO:0004089	Function	Carbonate dehydratase activity	IMP	7758465
GO:0005515	Function	Protein binding	IPI	15990874
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	114507, 15990874
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	15990874
GO:0005902	Component	Microvillus	IEA
GO:0006730	Process	One-carbon metabolic process	IBA	21873635
GO:0008270	Function	Zinc ion binding	IDA	3151020
GO:0009268	Process	Response to pH	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0015670	Process	Carbon dioxide transport	IBA	21873635
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016836	Function	Hydro-lyase activity	IBA	21873635
GO:0030424	Component	Axon	IEA
GO:0032849	Process	Positive regulation of cellular pH reduction	IEA
GO:0038166	Process	Angiotensin-activated signaling pathway	IDA	15990874
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0044070	Process	Regulation of anion transport	IDA	15990874
GO:0045177	Component	Apical part of cell	IBA	21873635
GO:0045177	Component	Apical part of cell	IDA	14675051
GO:0045672	Process	Positive regulation of osteoclast differentiation	IEA
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0048545	Process	Response to steroid hormone	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA	21873635
GO:0051453	Process	Regulation of intracellular pH	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071498	Process	Cellular response to fluid shear stress	IEA
GO:2001150	Process	Positive regulation of dipeptide transmembrane transport	ISS

Other IDs

• MIM: 611492
• HGNC: 1373
• e!Ensembl: ENSG00000104267

Protein

• UniProt ID: P00918
• Protein name: Carbonic anhydrase 2 (EC 4.2.1.1) (Carbonate dehydratase II) (Carbonic anhydrase C) (CAC) (Carbonic anhydrase II) (CA-II) (Cyanamide hydratase CA2) (EC 4.2.1.69)
• Protein function: Catalyzes the reversible hydration of carbon dioxide (PubMed:11327835, PubMed:11802772, PubMed:11831900, PubMed:12056894, PubMed:12171926, PubMed:1336460, PubMed:14736236, PubMed:15300855, PubMed:15453828, PubMed:15667203, PubMed:15865431, PubMe
• PDB: 12CA, 1A42, 1AM6, 1AVN, 1BCD, 1BIC, 1BN1, 1BN3, 1BN4, 1BNM, 1BNN, 1BNQ, 1BNT, 1BNU, 1BNV, 1BNW, 1BV3, 1CA2, 1CA3, 1CAH, 1CAI, 1CAJ, 1CAK, 1CAL, 1CAM, 1CAN, 1CAO, 1CAY, 1CAZ, 1CCS, 1CCT, 1CCU, 1CIL, 1CIM, 1CIN, 1CNB, 1CNC, 1CNG, 1CNH, 1CNI, 1CNJ, 1CNK, 1CNW, 1CNX, 1CNY, 1CRA, 1CVA, 1CVB, 1CVC, 1CVD, 1CVE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00194	Carb_anhydrase	4 → 258	Eukaryotic-type carbonic anhydrase	Domain

• Sequence:

  MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRIL
  NNGHAFNVEFDDSQDKAVLKGGPLDGTYRLIQFHFHWGSLDGQGSEHTVDKKKYAAELHL
  VHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVVDVLDSIKTKGKSADFTNFDP
  RGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVSSEQVLKFRKLNFNGEGEPEELM
  VDNWRPAQPLKNRQIKASFK

• Sequence length: 260

Pathways

KEGG:

Nitrogen metabolism
Metabolic pathways
Proximal tubule bicarbonate reclamation
Collecting duct acid secretion
Gastric acid secretion
Pancreatic secretion
Bile secretion

Reactome:

Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Reversible hydration of carbon dioxide

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	15378696
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
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	31209396
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	15378696
Developmental delay	Global developmental 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
Diaphyseal dysplasia	Camurati-Engelmann Syndrome	rs104894719, rs104894720, rs104894721, rs111033611, rs104894722, rs1599893542
Distal renal tubular acidosis	Distal Renal Tubular Acidosis	rs121964880, rs769664228, rs121912744, rs121912745, rs121912746, rs121912748, rs121912751, rs878853002, rs781838938, rs782152033, rs1443883930
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	21517111
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	15378696
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	1928091
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
Osteopetrosis	Osteopetrosis, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	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	1928091, 8128957, 1301935, 15300855, 8834238, 9143915, 1542674
Osteopetrosis with renal tubular acidosis	Osteopetrosis with renal tubular acidosis	rs118203933, rs1444065478, rs118203934, rs573750741, rs1554709677, rs779869368, rs1203921376
Osteoporosis	Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287	18924182
Renal tubular acidosis	Renal tubular acidosis, distal, type 3	rs121908367, rs28939081, rs769664228, rs121912745, rs121912748, rs121912751, rs121912752, rs28931584, rs121912754, rs878853002, rs763982675, rs769164245, rs768446132, rs1443883930, rs754517968, rs1450564765, rs934266733, rs1584907924, rs753232747, rs1584934951

Unknown
Disease name	Disease term	dbSNP ID	References
Dwarfism	Dwarfism
Liver carcinoma	Liver carcinoma		21472284
Malocclusion	Class III malocclusion
Nervous system diseases	Peripheral Nervous System Diseases
Periodic hypokalemic paresis	Periodic hypokalemic paresis
Stomach neoplasms	Malignant neoplasm of stomach, Stomach Neoplasms		15378696