GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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GK (glycerol kinase)

Gene

Glycerol kinase

GK1, GKD

Xp21.2

The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs132630328	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs132630329	C>T	Pathogenic	Coding sequence variant, stop gained
rs132630330	T>C	Pathogenic	Coding sequence variant, missense variant
rs132630331	A>G	Pathogenic	Coding sequence variant, missense variant
rs587776740	G>C	Pathogenic	Splice acceptor variant
rs1057520647	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1057520781	T>C	Pathogenic	Genic upstream transcript variant, splice donor variant, intron variant
rs1085307629	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1601910946	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant

Show/Hide all(94)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021809	hsa-miR-132-3p	Microarray	17612493
MIRT047490	hsa-miR-10b-5p	CLASH	23622248
MIRT047490	hsa-miR-10b-5p	CLASH	23622248
MIRT1020037	hsa-miR-1324	CLIP-seq
MIRT1020038	hsa-miR-3156-5p	CLIP-seq
MIRT1020039	hsa-miR-4528	CLIP-seq
MIRT1020040	hsa-miR-3920	CLIP-seq
MIRT1020041	hsa-miR-4259	CLIP-seq
MIRT1020042	hsa-miR-4715-5p	CLIP-seq
MIRT2002083	hsa-miR-4503	CLIP-seq
MIRT1020039	hsa-miR-4528	CLIP-seq
MIRT2002084	hsa-miR-494	CLIP-seq
MIRT2002085	hsa-miR-548ae	CLIP-seq
MIRT2002086	hsa-miR-548aj	CLIP-seq
MIRT2002087	hsa-miR-548am	CLIP-seq
MIRT2002088	hsa-miR-548x	CLIP-seq
MIRT2235069	hsa-miR-1271	CLIP-seq
MIRT2235070	hsa-miR-182	CLIP-seq
MIRT2235071	hsa-miR-183	CLIP-seq
MIRT2235072	hsa-miR-3167	CLIP-seq
MIRT2235073	hsa-miR-3182	CLIP-seq
MIRT2235074	hsa-miR-3942-3p	CLIP-seq
MIRT2235075	hsa-miR-4323	CLIP-seq
MIRT2235076	hsa-miR-4328	CLIP-seq
MIRT2235077	hsa-miR-4470	CLIP-seq
MIRT2235078	hsa-miR-4690-3p	CLIP-seq
MIRT2235079	hsa-miR-4802-5p	CLIP-seq
MIRT2235080	hsa-miR-876-5p	CLIP-seq
MIRT2235081	hsa-miR-96	CLIP-seq
MIRT2437415	hsa-miR-101	CLIP-seq
MIRT2437416	hsa-miR-1245	CLIP-seq
MIRT2437417	hsa-miR-128	CLIP-seq
MIRT2437418	hsa-miR-27a	CLIP-seq
MIRT2437419	hsa-miR-27b	CLIP-seq
MIRT2437420	hsa-miR-3064-3p	CLIP-seq
MIRT2437421	hsa-miR-3609	CLIP-seq
MIRT2437422	hsa-miR-369-3p	CLIP-seq
MIRT2437423	hsa-miR-374a	CLIP-seq
MIRT2437424	hsa-miR-374b	CLIP-seq
MIRT2437425	hsa-miR-4680-5p	CLIP-seq
MIRT2437426	hsa-miR-4699-3p	CLIP-seq
MIRT2437427	hsa-miR-4714-3p	CLIP-seq
MIRT2437428	hsa-miR-513a-5p	CLIP-seq
MIRT2437429	hsa-miR-513b	CLIP-seq
MIRT2437430	hsa-miR-520g	CLIP-seq
MIRT2437431	hsa-miR-520h	CLIP-seq
MIRT2437432	hsa-miR-548ah	CLIP-seq
MIRT2437433	hsa-miR-944	CLIP-seq
MIRT2538895	hsa-miR-106a	CLIP-seq
MIRT2538896	hsa-miR-106b	CLIP-seq
MIRT2538897	hsa-miR-1224-3p	CLIP-seq
MIRT2538898	hsa-miR-1234	CLIP-seq
MIRT2538899	hsa-miR-125a-3p	CLIP-seq
MIRT2235069	hsa-miR-1271	CLIP-seq
MIRT2538900	hsa-miR-150	CLIP-seq
MIRT2538901	hsa-miR-17	CLIP-seq
MIRT2235070	hsa-miR-182	CLIP-seq
MIRT2538902	hsa-miR-1913	CLIP-seq
MIRT2538903	hsa-miR-20a	CLIP-seq
MIRT2538904	hsa-miR-20b	CLIP-seq
MIRT2538905	hsa-miR-302a	CLIP-seq
MIRT2538906	hsa-miR-302b	CLIP-seq
MIRT2538907	hsa-miR-302c	CLIP-seq
MIRT2538908	hsa-miR-302d	CLIP-seq
MIRT2538909	hsa-miR-302e	CLIP-seq
MIRT2235072	hsa-miR-3167	CLIP-seq
MIRT2538910	hsa-miR-3186-5p	CLIP-seq
MIRT2538911	hsa-miR-324-3p	CLIP-seq
MIRT2538912	hsa-miR-372	CLIP-seq
MIRT2538913	hsa-miR-373	CLIP-seq
MIRT2538914	hsa-miR-3934	CLIP-seq
MIRT2235076	hsa-miR-4328	CLIP-seq
MIRT2235077	hsa-miR-4470	CLIP-seq
MIRT2538915	hsa-miR-4731-5p	CLIP-seq
MIRT2538916	hsa-miR-512-3p	CLIP-seq
MIRT2538917	hsa-miR-519d	CLIP-seq
MIRT2538918	hsa-miR-520a-3p	CLIP-seq
MIRT2538919	hsa-miR-520b	CLIP-seq
MIRT2538920	hsa-miR-520c-3p	CLIP-seq
MIRT2538921	hsa-miR-520d-3p	CLIP-seq
MIRT2538922	hsa-miR-520e	CLIP-seq
MIRT2437430	hsa-miR-520g	CLIP-seq
MIRT2437431	hsa-miR-520h	CLIP-seq
MIRT2538923	hsa-miR-764	CLIP-seq
MIRT2235080	hsa-miR-876-5p	CLIP-seq
MIRT2538924	hsa-miR-93	CLIP-seq
MIRT2235081	hsa-miR-96	CLIP-seq
MIRT2235069	hsa-miR-1271	CLIP-seq
MIRT2235070	hsa-miR-182	CLIP-seq
MIRT2235072	hsa-miR-3167	CLIP-seq
MIRT2235076	hsa-miR-4328	CLIP-seq
MIRT2235077	hsa-miR-4470	CLIP-seq
MIRT2235080	hsa-miR-876-5p	CLIP-seq
MIRT2235081	hsa-miR-96	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
PPARG	Activation	14749268

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004370	Function	Glycerol kinase activity	IBA	21873635
GO:0004370	Function	Glycerol kinase activity	IMP	8651297
GO:0004370	Function	Glycerol kinase activity	NAS	8401584
GO:0005515	Function	Protein binding	IPI	21988832
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006071	Process	Glycerol metabolic process	IBA	21873635
GO:0006071	Process	Glycerol metabolic process	IMP	8499898
GO:0006641	Process	Triglyceride metabolic process	IBA	21873635
GO:0006641	Process	Triglyceride metabolic process	IMP	8651297
GO:0016310	Process	Phosphorylation	IBA	21873635
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IBA	21873635
GO:0019432	Process	Triglyceride biosynthetic process	TAS
GO:0019563	Process	Glycerol catabolic process	IEA
GO:0046167	Process	Glycerol-3-phosphate biosynthetic process	IBA	21873635
GO:0046167	Process	Glycerol-3-phosphate biosynthetic process	IMP	8651297
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
300474	4289	ENSG00000198814

Protein

UniProt ID

P32189

Protein name

Glycerol kinase (Glycerokinase) (EC 2.7.1.30) (ATP:glycerol 3-phosphotransferase)

Protein function

Kinase that plays a key role in glycerol metabolism, catalyzing its phosphorylation to produce sn-glycerol 3-phosphate. Sn-glycerol 3-phosphate is a crucial intermediate in various metabolic pathways, such as the synthesis of glycerolipids and t

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00370	FGGY_N	12 → 272	FGGY family of carbohydrate kinases, N-terminal domain	Domain
PF02782	FGGY_C	281 → 473	FGGY family of carbohydrate kinases, C-terminal domain	Domain

Sequence

MAASKKAVLGPLVGAVDQGTSSTRFLVFNSKTAELLSHHQVEIKQEFPREGWVEQDPKEI
LHSVYECIEKTCEKLGQLNIDISNIKAIGVSNQRETTVVWDKITGEPLYNAVVWLDLRTQ
STVESLSKRIPGNNNFVKSKTGLPLSTYFSAVKLRWLLDNVRKVQKAVEEKRALFGTIDS
WLIWSLTGGVNGGVHCTDVTNASRTMLFNIHSLEWDKQLCEFFGIPMEILPNVRSSSEIY
GLMKISHSVKAGALEGVPISGCLGDQSAALVGQMCFQIGQAKNTYGTGCFLLCNTGHKCV
FSDHGLLTTVAYKLGRDKPVYYALEGSVAIAGAVIRWLRDNLGIIKTSEEIEKLAKEVGT
SYGCYFVPAFSGLYAPYWEPSARGIICGLTQFTNKCHIAFAALEAVCFQTREILDAMNRD
CGIPLSHLQVDGGMTSNKILMQLQADILYIPVVKPSMPETTALGAAMAAGAAEGVGVWSL
EPEDLSAVTMERFEPQINAEESEIRYSTWKKAVMKSMGWVTTQSPESGDPSIFCSLPLGF
FIVSSMVMLIGARYISGIP

Sequence length

559

Interactions

View interactions

	KEGG		Reactome
	Glycerolipid metabolism Metabolic pathways PPAR signaling pathway		Triglyceride biosynthesis

Associated diseases

Show/Hide Causal Diseases (5)

Causal
Disease name	Disease term	dbSNP ID	References
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	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
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287

Show/Hide Unknown Diseases (8)

Unknown
Disease name	Disease term	dbSNP ID	References
Deficiency of glycerol kinase	Deficiency of glycerol kinase		9719371, 10736265, 8651297
Dwarfism	Dwarfism
Frontal bossing	Frontal bossing
Glycerol kinase deficiency	Glycerol kinase deficiency, adult form, Glycerol kinase deficiency, juvenile form
Hypoglycemia	Hypoglycemia
Ketosis	Ketosis
Myocardial ischemia	Myocardial Ischemia		16214533
Strabismus	Strabismus

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