GK (glycerol kinase)

Gene

• Entrez ID: 2710
• Gene name: Glycerol kinase
• Gene symbol: GK
• Synonyms (NCBI Gene): GK1, GKD
• Disease Acronyms (UniProt): GKD
• Chromosome: X
• Chromosome location: Xp21.2
• Summary: 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

SNPs

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

miRNA

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

Transcription factor	Regulation	Reference
PPARG	Activation	14749268

Gene ontology (GO)

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

Other IDs

• MIM: 300474
• HGNC: 4289
• e!Ensembl: 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

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 2]: Widely expressed in fetal and adult tissues. {ECO:0000269|PubMed:15845384}.; TISSUE SPECIFICITY: [Isoform 3]: Widely expressed in fetal and adult tissues. {ECO:0000269|PubMed:15845384}.; TISSUE SPECIFICITY: [Isoform 4]: Th
• Sequence:

  MAASKKAVLGPLVGAVDQGTSSTRFLVFNSKTAELLSHHQVEIKQEFPREGWVEQDPKEI
  LHSVYECIEKTCEKLGQLNIDISNIKAIGVSNQRETTVVWDKITGEPLYNAVVWLDLRTQ
  STVESLSKRIPGNNNFVKSKTGLPLSTYFSAVKLRWLLDNVRKVQKAVEEKRALFGTIDS
  WLIWSLTGGVNGGVHCTDVTNASRTMLFNIHSLEWDKQLCEFFGIPMEILPNVRSSSEIY
  GLMKISHSVKAGALEGVPISGCLGDQSAALVGQMCFQIGQAKNTYGTGCFLLCNTGHKCV
  FSDHGLLTTVAYKLGRDKPVYYALEGSVAIAGAVIRWLRDNLGIIKTSEEIEKLAKEVGT
  SYGCYFVPAFSGLYAPYWEPSARGIICGLTQFTNKCHIAFAALEAVCFQTREILDAMNRD
  CGIPLSHLQVDGGMTSNKILMQLQADILYIPVVKPSMPETTALGAAMAAGAAEGVGVWSL
  EPEDLSAVTMERFEPQINAEESEIRYSTWKKAVMKSMGWVTTQSPESGDPSIFCSLPLGF
  FIVSSMVMLIGARYISGIP

• Sequence length: 559

Pathways

KEGG:

Glycerolipid metabolism
Metabolic pathways
PPAR signaling pathway

Reactome:

Triglyceride biosynthesis

Associated diseases

Causal
Disease term	Disease name	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

Unknown
Disease term	Disease name	Evidence	References	Source
Glycerol Kinase Deficiency	inborn glycerol kinase deficiency			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Addison Disease	Associate	27087023
Adrenal Insufficiency	Associate	18762570
Congenital Hyperinsulinism	Associate	16938872, 19617908
Coronary Artery Disease	Associate	22780915
Developmental Disabilities	Associate	18762570
Diabetes Gestational	Associate	25012807
Diabetes Mellitus	Associate	16938872, 29885360
Diabetes Mellitus Type 2	Associate	16938872, 19617908, 36342518, 37021775
Disorders of Sex Development	Associate	26980296
Epileptic Syndromes	Associate	22291974
Gonadal Dysgenesis 46 XY	Associate	36613932
Hypoadrenocorticism Familial	Associate	1463011, 18762570, 22456342
Hypoglycemia	Associate	17082186, 22291974
Mason Type Diabetes	Associate	19617908
Maturity Onset Diabetes of the Young Type 2	Associate	22291974
Melanoma	Associate	10196316
Metabolic Diseases	Associate	16938872
Metabolic Syndrome	Associate	39199385
Muscular Dystrophies	Associate	18762570
Muscular Dystrophy Duchenne	Associate	1463011, 17089405
Neoplasms	Stimulate	39199385
Prostatic Neoplasms	Associate	39199385
Rupture	Associate	36187340
Sepsis	Associate	31093495
Severe Acute Respiratory Syndrome	Associate	35499994