CAMKMT (calmodulin-lysine N-methyltransferase)

Gene

• Entrez ID: 79823
• Gene name: Calmodulin-lysine N-methyltransferase
• Gene symbol: CAMKMT
• Synonyms: C2orf34, CLNMT, CaM KMT, Cam, KMT
• Chromosome: 2
• Chromosome location: 2p21
• Summary: This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030210	hsa-miR-26b-5p	Microarray	19088304
MIRT860541	hsa-miR-1226	CLIP-seq
MIRT860542	hsa-miR-1286	CLIP-seq
MIRT860543	hsa-miR-1296	CLIP-seq
MIRT860544	hsa-miR-1297	CLIP-seq
MIRT860545	hsa-miR-1324	CLIP-seq
MIRT860546	hsa-miR-197	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860548	hsa-miR-224	CLIP-seq
MIRT860549	hsa-miR-26a	CLIP-seq
MIRT860550	hsa-miR-26b	CLIP-seq
MIRT860551	hsa-miR-2909	CLIP-seq
MIRT860552	hsa-miR-375	CLIP-seq
MIRT860553	hsa-miR-4436b-3p	CLIP-seq
MIRT860554	hsa-miR-4465	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860556	hsa-miR-4643	CLIP-seq
MIRT860557	hsa-miR-466	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT860559	hsa-miR-4733-3p	CLIP-seq
MIRT860560	hsa-miR-4761-3p	CLIP-seq
MIRT860561	hsa-miR-4789-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq
MIRT860564	hsa-miR-759	CLIP-seq
MIRT860541	hsa-miR-1226	CLIP-seq
MIRT860544	hsa-miR-1297	CLIP-seq
MIRT860545	hsa-miR-1324	CLIP-seq
MIRT860546	hsa-miR-197	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860548	hsa-miR-224	CLIP-seq
MIRT860549	hsa-miR-26a	CLIP-seq
MIRT860550	hsa-miR-26b	CLIP-seq
MIRT860552	hsa-miR-375	CLIP-seq
MIRT860554	hsa-miR-4465	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT860559	hsa-miR-4733-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq
MIRT860541	hsa-miR-1226	CLIP-seq
MIRT860544	hsa-miR-1297	CLIP-seq
MIRT860545	hsa-miR-1324	CLIP-seq
MIRT860546	hsa-miR-197	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860548	hsa-miR-224	CLIP-seq
MIRT860549	hsa-miR-26a	CLIP-seq
MIRT860550	hsa-miR-26b	CLIP-seq
MIRT860554	hsa-miR-4465	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860556	hsa-miR-4643	CLIP-seq
MIRT860557	hsa-miR-466	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT860559	hsa-miR-4733-3p	CLIP-seq
MIRT860561	hsa-miR-4789-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq
MIRT860542	hsa-miR-1286	CLIP-seq
MIRT860543	hsa-miR-1296	CLIP-seq
MIRT2496188	hsa-miR-185	CLIP-seq
MIRT2496189	hsa-miR-1908	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860551	hsa-miR-2909	CLIP-seq
MIRT2496190	hsa-miR-3135b	CLIP-seq
MIRT2496191	hsa-miR-3616-3p	CLIP-seq
MIRT2496192	hsa-miR-4300	CLIP-seq
MIRT2496193	hsa-miR-4306	CLIP-seq
MIRT2496194	hsa-miR-4419a	CLIP-seq
MIRT860553	hsa-miR-4436b-3p	CLIP-seq
MIRT2496195	hsa-miR-4487	CLIP-seq
MIRT2496196	hsa-miR-4510	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860556	hsa-miR-4643	CLIP-seq
MIRT2496197	hsa-miR-4644	CLIP-seq
MIRT860557	hsa-miR-466	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT2496198	hsa-miR-4706	CLIP-seq
MIRT2496199	hsa-miR-4728-5p	CLIP-seq
MIRT2496200	hsa-miR-4749-5p	CLIP-seq
MIRT860560	hsa-miR-4761-3p	CLIP-seq
MIRT860561	hsa-miR-4789-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT2496201	hsa-miR-548u	CLIP-seq
MIRT2496202	hsa-miR-583	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq
MIRT2496203	hsa-miR-663	CLIP-seq
MIRT860564	hsa-miR-759	CLIP-seq
MIRT2496204	hsa-miR-920	CLIP-seq
MIRT860542	hsa-miR-1286	CLIP-seq
MIRT860543	hsa-miR-1296	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860551	hsa-miR-2909	CLIP-seq
MIRT860553	hsa-miR-4436b-3p	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860556	hsa-miR-4643	CLIP-seq
MIRT860557	hsa-miR-466	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT860560	hsa-miR-4761-3p	CLIP-seq
MIRT860561	hsa-miR-4789-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT2496201	hsa-miR-548u	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	23349634
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006479	Process	Protein methylation	TAS
GO:0007005	Process	Mitochondrion organization	IEA
GO:0018022	Process	Peptidyl-lysine methylation	IEA
GO:0018025	Function	Calmodulin-lysine N-methyltransferase activity	IBA	21873635
GO:0018025	Function	Calmodulin-lysine N-methyltransferase activity	TAS
GO:0022400	Process	Regulation of rhodopsin mediated signaling pathway	TAS
GO:0031072	Function	Heat shock protein binding	IPI	23349634
GO:0032991	Component	Protein-containing complex	IDA	23349634

Other IDs

• MIM: 609559
• HGNC: 26276
• e!Ensembl: ENSG00000143919

Protein

• UniProt ID: Q7Z624
• Protein name: Calmodulin-lysine N-methyltransferase (CLNMT) (CaM KMT) (EC 2.1.1.60)
• Protein function: Catalyzes the trimethylation of 'Lys-116' in calmodulin.
• PDB: 4PWY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10294	Methyltransf_16	110 → 278	Lysine methyltransferase	Family

• Sequence:

  MESRVADAGTGETARAAGGSPAVGCTTRGPVVSAPLGAARWKLLRQVLKQKHLDDCLRHV
  SVRRFESFNLFSVTEGKERETEEEVGAWVQYTSIFCPEYSISLRHNSGSLNVEDVLTSFD
  NTGNVCIWPSEEVLAYYCLKHNNIFRALAVCELGGGMTCLAGLMVAISADVKEVLLTDGN
  EKAIRNVQDIITRNQKAGVFKTQKISSCVLRWDNETDVSQLEGHFDIVMCADCLFLDQYR
  ASLVDAIKRLLQPRGKAMVFAPRRGNTLNQFCNLAEKAGFCIQRHENYDEHISNFHSKLK
  KENPDIYEENLHYPLLLILTKHG

• Sequence length: 323

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

Inactivation, recovery and regulation of the phototransduction cascade
Protein methylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cystinuria	Cystinuria	rs121908479, rs121908480, rs121908482, rs121908483, rs121908484, rs121908485, rs121912691, rs121912693, rs121912694, rs387907276, rs797044609, rs1085307095, rs886042834, rs745319034, rs200483989, rs201502095, rs775827496, rs1060499787, rs1553344107, rs779932118, rs778000327, rs567478582, rs750849536, rs1007096305, rs1558450604, rs776729515, rs777149216, rs768467260, rs368796166, rs1361526419, rs1599688589, rs758627758, rs1599648136, rs755715459, rs767801148
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
Mental retardation	Moderate 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
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454	26247364

Unknown
Disease name	Disease term	dbSNP ID	References
2p21 microdeletion syndrome	2p21 microdeletion syndrome		11524703
2p21 microdeletion syndrome without cystinuria	2p21 microdeletion syndrome without cystinuria		23794250
Bipolar disorder	Bipolar Disorder		21738484
Development disorder	Developmental Disabilities, Child Development Deviations, Child Development Disorders, Specific		26247364
Developmental dyspraxia	Developmental Coordination Disorder		26247364
Frontal bossing	Frontal bossing
Hypoglycemia	Hypoglycemia
Hypogonadism	Hypogonadism
Hypotonia-cystinuria syndrome	Hypotonia-Cystinuria Syndrome, Atypical hypotonia-cystinuria syndrome		26247364
Learning disorders	Learning Disorders, Adult Learning Disorders, Learning Disturbance, Learning Disabilities		26247364
Luft disease	Luft Disease		26247364
Megaconial myopathies	Megaconial Myopathies		26247364
Motor skills disorders	Motor Skills Disorders		26247364
Nephrolithiasis	Nephrolithiasis
Pleoconial myopathy	Pleoconial Myopathies		26247364