GPD1 (glycerol-3-phosphate dehydrogenase 1)

Gene

• Entrez ID: 2819
• Gene name: Glycerol-3-phosphate dehydrogenase 1
• Gene symbol: GPD1
• Synonyms (NCBI Gene): GPD-C, GPDH-C, HTGTI
• Disease Acronyms (UniProt): HTGTI
• Chromosome: 12
• Chromosome location: 12q13.12
• Summary: This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and redu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199673455	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs200327418	G>C	Pathogenic	Splice acceptor variant
rs746781699	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555188332	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1592303371	G>A	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001842	hsa-miR-103a-3p	Luciferase reporter assay	15131085
MIRT530781	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT530780	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT530779	hsa-miR-3162-3p	PAR-CLIP	22012620
MIRT530778	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT530777	hsa-miR-5088-3p	PAR-CLIP	22012620
MIRT530776	hsa-miR-18a-3p	PAR-CLIP	22012620
MIRT530775	hsa-miR-18b-3p	PAR-CLIP	22012620
MIRT530774	hsa-miR-4757-5p	PAR-CLIP	22012620
MIRT530773	hsa-miR-6744-3p	PAR-CLIP	22012620
MIRT530772	hsa-miR-515-5p	PAR-CLIP	22012620
MIRT530771	hsa-miR-519e-5p	PAR-CLIP	22012620
MIRT530770	hsa-miR-3157-3p	PAR-CLIP	22012620
MIRT530781	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT530780	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT530779	hsa-miR-3162-3p	PAR-CLIP	22012620
MIRT530778	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT530777	hsa-miR-5088-3p	PAR-CLIP	22012620
MIRT530776	hsa-miR-18a-3p	PAR-CLIP	22012620
MIRT530775	hsa-miR-18b-3p	PAR-CLIP	22012620
MIRT530774	hsa-miR-4757-5p	PAR-CLIP	22012620
MIRT530773	hsa-miR-6744-3p	PAR-CLIP	22012620
MIRT530772	hsa-miR-515-5p	PAR-CLIP	22012620
MIRT530771	hsa-miR-519e-5p	PAR-CLIP	22012620
MIRT530770	hsa-miR-3157-3p	PAR-CLIP	22012620
MIRT1028810	hsa-miR-1197	CLIP-seq
MIRT1028811	hsa-miR-1224-5p	CLIP-seq
MIRT1028812	hsa-miR-1270	CLIP-seq
MIRT1028813	hsa-miR-1289	CLIP-seq
MIRT1028814	hsa-miR-217	CLIP-seq
MIRT1028815	hsa-miR-3128	CLIP-seq
MIRT1028816	hsa-miR-3192	CLIP-seq
MIRT1028817	hsa-miR-3198	CLIP-seq
MIRT1028818	hsa-miR-3690	CLIP-seq
MIRT1028819	hsa-miR-3936	CLIP-seq
MIRT1028820	hsa-miR-4254	CLIP-seq
MIRT1028821	hsa-miR-4257	CLIP-seq
MIRT1028822	hsa-miR-4270	CLIP-seq
MIRT1028823	hsa-miR-4292	CLIP-seq
MIRT1028824	hsa-miR-4294	CLIP-seq
MIRT1028825	hsa-miR-4303	CLIP-seq
MIRT1028826	hsa-miR-4308	CLIP-seq
MIRT1028827	hsa-miR-4309	CLIP-seq
MIRT1028828	hsa-miR-4441	CLIP-seq
MIRT1028829	hsa-miR-4470	CLIP-seq
MIRT1028830	hsa-miR-4649-3p	CLIP-seq
MIRT1028831	hsa-miR-4651	CLIP-seq
MIRT1028832	hsa-miR-4683	CLIP-seq
MIRT1028833	hsa-miR-4720-5p	CLIP-seq
MIRT1028834	hsa-miR-4751	CLIP-seq
MIRT1028835	hsa-miR-4762-3p	CLIP-seq
MIRT1028836	hsa-miR-4799-3p	CLIP-seq
MIRT1028837	hsa-miR-608	CLIP-seq
MIRT1028838	hsa-miR-620	CLIP-seq
MIRT1028839	hsa-miR-767-3p	CLIP-seq
MIRT2005218	hsa-miR-2114	CLIP-seq
MIRT2005219	hsa-miR-2116	CLIP-seq
MIRT2005220	hsa-miR-2467-3p	CLIP-seq
MIRT2005221	hsa-miR-3150a-3p	CLIP-seq
MIRT2005222	hsa-miR-3175	CLIP-seq
MIRT2005223	hsa-miR-3909	CLIP-seq
MIRT1028819	hsa-miR-3936	CLIP-seq
MIRT1028823	hsa-miR-4292	CLIP-seq
MIRT1028826	hsa-miR-4308	CLIP-seq
MIRT2005224	hsa-miR-4667-3p	CLIP-seq
MIRT2005225	hsa-miR-4667-5p	CLIP-seq
MIRT2005226	hsa-miR-4677-5p	CLIP-seq
MIRT2005227	hsa-miR-4700-5p	CLIP-seq
MIRT2005228	hsa-miR-483-3p	CLIP-seq
MIRT2005229	hsa-miR-939	CLIP-seq
MIRT1028813	hsa-miR-1289	CLIP-seq
MIRT2005218	hsa-miR-2114	CLIP-seq
MIRT2237903	hsa-miR-2964a-5p	CLIP-seq
MIRT2005221	hsa-miR-3150a-3p	CLIP-seq
MIRT2005222	hsa-miR-3175	CLIP-seq
MIRT1028817	hsa-miR-3198	CLIP-seq
MIRT1028819	hsa-miR-3936	CLIP-seq
MIRT1028822	hsa-miR-4270	CLIP-seq
MIRT1028823	hsa-miR-4292	CLIP-seq
MIRT1028824	hsa-miR-4294	CLIP-seq
MIRT1028826	hsa-miR-4308	CLIP-seq
MIRT1028827	hsa-miR-4309	CLIP-seq
MIRT1028828	hsa-miR-4441	CLIP-seq
MIRT1028831	hsa-miR-4651	CLIP-seq
MIRT2005225	hsa-miR-4667-5p	CLIP-seq
MIRT2005227	hsa-miR-4700-5p	CLIP-seq
MIRT2237904	hsa-miR-4708-3p	CLIP-seq
MIRT2237905	hsa-miR-4723-5p	CLIP-seq
MIRT2237906	hsa-miR-519a	CLIP-seq
MIRT2237907	hsa-miR-519b-3p	CLIP-seq
MIRT2237908	hsa-miR-519c-3p	CLIP-seq
MIRT1028837	hsa-miR-608	CLIP-seq
MIRT2005229	hsa-miR-939	CLIP-seq
MIRT2005221	hsa-miR-3150a-3p	CLIP-seq
MIRT2005222	hsa-miR-3175	CLIP-seq
MIRT2005225	hsa-miR-4667-5p	CLIP-seq
MIRT2005227	hsa-miR-4700-5p	CLIP-seq
MIRT2005229	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004367	Function	Glycerol-3-phosphate dehydrogenase [NAD+] activity	IBA	21873635
GO:0004368	Function	Glycerol-3-phosphate dehydrogenase (quinone) activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006072	Process	Glycerol-3-phosphate metabolic process	IBA	21873635
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006116	Process	NADH oxidation	IBA	21873635
GO:0006127	Process	Glycerophosphate shuttle	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0009331	Component	Glycerol-3-phosphate dehydrogenase complex	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0045821	Process	Positive regulation of glycolytic process	IEA
GO:0046168	Process	Glycerol-3-phosphate catabolic process	IEA
GO:0051287	Function	NAD binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA

Other IDs

• MIM: 138420
• HGNC: 4455
• e!Ensembl: ENSG00000167588

Protein

• UniProt ID: P21695
• Protein name: Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (GPD-C) (GPDH-C) (EC 1.1.1.8)
• Protein function: Has glycerol-3-phosphate dehydrogenase activity.
• PDB: 1WPQ, 1X0V, 1X0X, 6E8Y, 6E8Z, 6E90, 6PYP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01210	NAD_Gly3P_dh_N	5 → 174	NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus	Family
  PF07479	NAD_Gly3P_dh_C	193 → 340	NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in liver (at protein level). {ECO:0000269|PubMed:7772607}.
• Sequence:

  MASKKVCIVGSGNWGSAIAKIVGGNAAQLAQFDPRVTMWVFEEDIGGKKLTEIINTQHEN
  VKYLPGHKLPPNVVAVPDVVQAAEDADILIFVVPHQFIGKICDQLKGHLKANATGISLIK
  GVDEGPNGLKLISEVIGERLGIPMSVLMGANIASEVADEKFCETTIGCKDPAQGQLLKEL
  MQTPNFRITVVQEVDTVEICGALKNVVAVGAGFCDGLGFGDNTKAAVIRLGLMEMIAFAK
  LFCSGPVSSATFLESCGVADLITTCYGGRNRKVAEAFARTGKSIEQLEKELLNGQKLQGP
  ETARELYSILQHKGLVDKFPLFMAVYKVCYEGQPVGEFIHCLQNHPEHM

• Sequence length: 349

Pathways

KEGG:

Glycerophospholipid metabolism

Reactome:

Synthesis of PA

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	28944580, 22226083, 24549054
Transient hypertriglyceridemia and hepatosteatosis	Transient infantile hypertriglyceridemia and hepatosteatosis	rs200327418, rs199673455, rs1592303371

Unknown
Disease term	Disease name	Evidence	References	Source
Hypertriglyceridemia	HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE		22226083, 24549054	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Infarction	Associate	36529041
Breast Neoplasms	Associate	22552268, 34657876, 39684297
Carcinogenesis	Associate	39684297
Carcinoma Hepatocellular	Associate	22226083, 40500772
Carcinoma Ovarian Epithelial	Associate	35563509
Carcinoma Pancreatic Ductal	Associate	38366633
Fatty Liver	Associate	22226083, 24549054, 33907148
Fatty Liver Alcoholic	Associate	35450873
Glyceraldehyde 3 phosphate dehydrogenase deficiency	Associate	35450873
Hepatic Adenomas Familial	Associate	35365473
Hepatomegaly	Associate	24549054, 33907148
Hypertriglyceridemia	Associate	22226083, 24549054, 29910226, 33907148, 39849455
Jaundice	Associate	33907148
Liver Cirrhosis	Associate	22226083, 33907148
Neoplasms	Inhibit	22552268, 35836291
Neoplasms	Associate	35563509, 39684297
Obesity	Associate	39849455
Pancreatitis	Associate	39849455
Refsum Disease Infantile	Associate	8730284
Sleep Apnea Obstructive	Associate	20404019
Sleep Deprivation	Stimulate	20404019
Triple Negative Breast Neoplasms	Associate	34657876
Urinary Bladder Neoplasms	Inhibit	35836291