ALDOB (aldolase, fructose-bisphosphate B)

Gene

• Entrez ID: 229
• Gene name: Aldolase, fructose-bisphosphate B
• Gene symbol: ALDOB
• Synonyms (NCBI Gene): ALDB, ALDO2
• Chromosome: 9
• Chromosome location: 9q31.1
• Summary: Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes whi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800546	C>G	Pathogenic	Missense variant, coding sequence variant
rs35885472	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs61757689	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs76917243	G>T	Pathogenic	Missense variant, coding sequence variant
rs77718928	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs78340951	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs118204425	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs118204426	G>T	Pathogenic	Coding sequence variant, stop gained
rs118204428	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs118204429	G>A,T	Pathogenic, pathogenic-likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs118204430	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs138121153	C>A,T	Likely-pathogenic	Splice donor variant
rs138866018	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs141988626	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144196914	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs145078268	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs181639417	C>G	Pathogenic	Splice donor variant
rs199965465	T>G	Likely-pathogenic	Splice acceptor variant
rs200585150	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs202210810	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs370793608	A>C,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs387906225	TGTT>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs387906226	ACCAGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs546735701	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs574635615	G>A,T	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs750026492	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs752902486	G>A,C	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs764826805	C>T	Pathogenic	Splice donor variant
rs786204503	T>C	Likely-pathogenic	Splice acceptor variant
rs786204598	CCTA>-	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs864309533	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886063292	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs900220679	C>G	Likely-pathogenic	Terminator codon variant, stop lost
rs974582114	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057516379	A>T	Pathogenic-likely-pathogenic	Splice donor variant
rs1057516534	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1057516902	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517091	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517133	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517421	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1172384674	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1300461861	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1402966846	C>T	Likely-pathogenic	Splice acceptor variant
rs1554702325	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554702328	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554702353	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554702425	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554702666	C>T	Likely-pathogenic	Splice acceptor variant
rs1554702890	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564077542	C>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022656	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT043866	hsa-miR-378a-3p	CLASH	23622248
MIRT1545314	hsa-miR-224	CLIP-seq
MIRT1545315	hsa-miR-23a	CLIP-seq
MIRT1545316	hsa-miR-23b	CLIP-seq
MIRT1545317	hsa-miR-23c	CLIP-seq
MIRT1545318	hsa-miR-3616-5p	CLIP-seq
MIRT1545319	hsa-miR-3647-5p	CLIP-seq
MIRT1545320	hsa-miR-4753-3p	CLIP-seq
MIRT1545321	hsa-miR-573	CLIP-seq
MIRT1545314	hsa-miR-224	CLIP-seq
MIRT1545315	hsa-miR-23a	CLIP-seq
MIRT1545316	hsa-miR-23b	CLIP-seq
MIRT1545317	hsa-miR-23c	CLIP-seq
MIRT1929630	hsa-miR-3180-5p	CLIP-seq
MIRT1545318	hsa-miR-3616-5p	CLIP-seq
MIRT1545319	hsa-miR-3647-5p	CLIP-seq
MIRT1545320	hsa-miR-4753-3p	CLIP-seq
MIRT1545321	hsa-miR-573	CLIP-seq
MIRT2170466	hsa-miR-1262	CLIP-seq
MIRT2170467	hsa-miR-4701-3p	CLIP-seq
MIRT2170468	hsa-miR-4795-3p	CLIP-seq
MIRT2170469	hsa-miR-578	CLIP-seq
MIRT2170470	hsa-miR-635	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DBP	Activation	8383844
PPARGC1A	Activation	16891307

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004332	Function	Fructose-bisphosphate aldolase activity	IBA	21873635
GO:0004332	Function	Fructose-bisphosphate aldolase activity	IDA	9244396, 10625657, 17576770
GO:0005515	Function	Protein binding	IPI	18000879
GO:0005815	Component	Microtubule organizing center	IDA	18000879
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006000	Process	Fructose metabolic process	IMP	3383242
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006096	Process	Glycolytic process	IBA	21873635
GO:0006096	Process	Glycolytic process	IDA	10625657
GO:0006116	Process	NADH oxidation	IDA	17576770
GO:0008092	Function	Cytoskeletal protein binding	IDA	9244396
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IBA	21873635
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IDA	9244396, 10625657
GO:0032781	Process	Positive regulation of ATPase activity	IGI	17576770
GO:0034451	Component	Centriolar satellite	IDA	18000879
GO:0042802	Function	Identical protein binding	IPI	10625657
GO:0051117	Function	ATPase binding	IDA	17576770
GO:0061609	Function	Fructose-1-phosphate aldolase activity	IBA	21873635
GO:0061609	Function	Fructose-1-phosphate aldolase activity	IDA	2649152
GO:0061621	Process	Canonical glycolysis	TAS
GO:0061624	Process	Fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate	TAS
GO:0070061	Function	Fructose binding	IMP	10625657
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070072	Process	Vacuolar proton-transporting V-type ATPase complex assembly	IGI	17576770

Other IDs

• MIM: 612724
• HGNC: 417
• e!Ensembl: ENSG00000136872

Protein

• UniProt ID: P05062
• Protein name: Fructose-bisphosphate aldolase B (EC 4.1.2.13) (Liver-type aldolase)
• Protein function: Catalyzes the aldol cleavage of fructose 1,6-biphosphate to form two triosephosphates dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate in glycolysis as well as the reverse stereospecific aldol addition reaction in gluconeogenesis. In
• PDB: 1QO5, 1XDL, 1XDM, 8D44
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00274	Glycolytic	15 → 364	Fructose-bisphosphate aldolase class-I	Domain

• Sequence:

  MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFR
  EILFSVDSSINQSIGGVILFHETLYQKDSQGKLFRNILKEKGIVVGIKLDQGGAPLAGTN
  KETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQ
  NGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHAC
  TKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINLCPLPKPWKLSF
  SYGRALQASALAAWGGKAANKEATQEAFMKRAMANCQAAKGQYVHTGSSGAASTQSLFTA
  CYTY

• Sequence length: 364

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Pentose phosphate pathway
Fructose and mannose metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
HIF-1 signaling pathway

Reactome:

Hereditary fructose intolerance
Glycolysis
Gluconeogenesis
Fructose catabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
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	19424620
Hereditary fructosuria	Hereditary fructose intolerance syndrome	rs1800546, rs76917243, rs118204425, rs118204426, rs78340951, rs118204428, rs118204429, rs1564077542, rs387906226, rs77718928, rs786204503, rs370793608, rs387906225, rs750026492, rs786204598, rs864309533, rs764826805, rs1057517133, rs1057517091, rs1057516902, rs1057517421, rs138121153, rs1057516379, rs1057516534, rs199965465, rs181639417, rs1402966846, rs1554702328, rs752902486, rs1554702666, rs1300461861, rs1172384674, rs1554702325, rs1554702353, rs1554702425, rs1554702890, rs974582114	12417303, 18035330, 18541450, 3383242, 10970798, 26937407, 23430936, 8071980, 17955389, 11757579, 8096362, 15532022, 15733923, 2336380, 15880727, 27604308, 12464284, 25595217, 20882353, 8299883, 10024431, 27797444, 20848650, 2339710, 22995991, 12205126, 16630753, 8880583, 8292669, 8299892, 19768653, 23114028, 7717389, 2349937, 1856829, 10625657, 20033295, 21228398, 16406649, 10229688, 1967768, 8162030, 8438046, 8535439, 9610797, 6348085
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Kidney disease	Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Liver failure	Liver Failure, Acute, Chronic Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
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
Renal tubular acidosis	Renal Tubular Acidosis, Type II	rs121908367, rs28939081, rs769664228, rs121912745, rs121912748, rs121912751, rs121912752, rs28931584, rs121912754, rs878853002, rs763982675, rs769164245, rs768446132, rs1443883930, rs754517968, rs1450564765, rs934266733, rs1584907924, rs753232747, rs1584934951

Unknown
Disease term	Disease name	Evidence	References	Source
Cirrhosis	Cirrhosis			ClinVar
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Adenomatous Polyps	Associate	31122841
Anophthalmia with pulmonary hypoplasia	Associate	37597521
Basal Cell Nevus Syndrome	Associate	7909984
Breast Neoplasms	Associate	37083815
Carcinoma Hepatocellular	Associate	30482855
Carcinoma Renal Cell	Associate	27766950, 39348357
Cataract	Associate	25352737
Cholangitis Sclerosing	Associate	30344796
Colonic Neoplasms	Associate	28558381
Colorectal Neoplasms	Associate	28558381, 31122841, 33737938, 37816733
Diabetes Mellitus	Associate	35230239
Diabetes Mellitus Type 2	Stimulate	36749929
Esophageal Neoplasms	Associate	37083815
Fructose Intolerance	Associate	20882353, 35387598
Glioblastoma	Associate	36245009
Heart Diseases	Associate	26913919
Hyperglycemia	Stimulate	30202879
Hyperglycemic Hyperosmolar Nonketotic Coma	Stimulate	30202879
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	30202879
Hypoxia	Associate	33737938
Metabolic Diseases	Associate	31637888
Metabolic Syndrome	Associate	35230239
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	31637888
Neoplasm Metastasis	Associate	28558381
Neoplasms	Associate	28558381, 36978048, 37083815
Non alcoholic Fatty Liver Disease	Associate	30344796
Pancreatic Neoplasms	Associate	37597521
Schmid Fraccaro syndrome	Associate	26913919
Spherocytosis Hereditary	Associate	31122244
Testicular Germ Cell Tumor	Associate	37083815