MDH2 (malate dehydrogenase 2)

Gene

• Entrez ID: 4191
• Gene name: Malate dehydrogenase 2
• Gene symbol: MDH2
• Synonyms: DEE51, EIEE51, M-MDH, MDH, MGC:3559, MOR1
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs373968974	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs375002796	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs782308462	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs1057519566	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057519567	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046682	hsa-miR-222-3p	CLASH	23622248
MIRT046217	hsa-miR-27b-3p	CLASH	23622248
MIRT044824	hsa-miR-320a	CLASH	23622248
MIRT042426	hsa-miR-425-3p	CLASH	23622248
MIRT041647	hsa-miR-484	CLASH	23622248
MIRT041283	hsa-miR-193b-3p	CLASH	23622248
MIRT039952	hsa-miR-615-3p	CLASH	23622248
MIRT035981	hsa-miR-1301-3p	CLASH	23622248
MIRT041283	hsa-miR-193b-3p	PAR-CLIP	27292025
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT1138620	hsa-miR-2276	CLIP-seq
MIRT1138621	hsa-miR-3119	CLIP-seq
MIRT1138622	hsa-miR-3163	CLIP-seq
MIRT1138623	hsa-miR-4668-3p	CLIP-seq
MIRT1138624	hsa-miR-4686	CLIP-seq
MIRT1138625	hsa-miR-4772-3p	CLIP-seq
MIRT1138626	hsa-miR-4787-3p	CLIP-seq
MIRT1138627	hsa-miR-891a	CLIP-seq
MIRT2039330	hsa-miR-101	CLIP-seq
MIRT2039331	hsa-miR-1272	CLIP-seq
MIRT2039332	hsa-miR-144	CLIP-seq
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT2039333	hsa-miR-2964a-5p	CLIP-seq
MIRT2039334	hsa-miR-3202	CLIP-seq
MIRT2039335	hsa-miR-3682-3p	CLIP-seq
MIRT2039336	hsa-miR-3910	CLIP-seq
MIRT2039337	hsa-miR-4533	CLIP-seq
MIRT1138626	hsa-miR-4787-3p	CLIP-seq
MIRT2039330	hsa-miR-101	CLIP-seq
MIRT2039331	hsa-miR-1272	CLIP-seq
MIRT2039332	hsa-miR-144	CLIP-seq
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT1138620	hsa-miR-2276	CLIP-seq
MIRT2039333	hsa-miR-2964a-5p	CLIP-seq
MIRT2039334	hsa-miR-3202	CLIP-seq
MIRT2039335	hsa-miR-3682-3p	CLIP-seq
MIRT2039336	hsa-miR-3910	CLIP-seq
MIRT2039337	hsa-miR-4533	CLIP-seq
MIRT1138624	hsa-miR-4686	CLIP-seq
MIRT1138625	hsa-miR-4772-3p	CLIP-seq
MIRT1138626	hsa-miR-4787-3p	CLIP-seq
MIRT2269413	hsa-miR-520d-5p	CLIP-seq
MIRT2269414	hsa-miR-524-5p	CLIP-seq
MIRT2269415	hsa-miR-561	CLIP-seq
MIRT1138627	hsa-miR-891a	CLIP-seq
MIRT1138626	hsa-miR-4787-3p	CLIP-seq
MIRT2568593	hsa-miR-193b	CLIP-seq
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT2568594	hsa-miR-4701-5p	CLIP-seq
MIRT2568595	hsa-miR-588	CLIP-seq
MIRT2568593	hsa-miR-193b	CLIP-seq
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT2568594	hsa-miR-4701-5p	CLIP-seq
MIRT2568595	hsa-miR-588	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	16740313
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IBA	21873635
GO:0006099	Process	Tricarboxylic acid cycle	TAS
GO:0006107	Process	Oxaloacetate metabolic process	IEA
GO:0006108	Process	Malate metabolic process	IDA	16740313
GO:0006108	Process	Malate metabolic process	IMP	6576816
GO:0006734	Process	NADH metabolic process	IEA
GO:0009060	Process	Aerobic respiration	IDA	27989324
GO:0016020	Component	Membrane	IEA
GO:0030060	Function	L-malate dehydrogenase activity	IBA	21873635
GO:0030060	Function	L-malate dehydrogenase activity	IDA	16740313, 27989324
GO:0030060	Function	L-malate dehydrogenase activity	IMP	6576816
GO:0043621	Function	Protein self-association	IEA
GO:0046554	Function	Malate dehydrogenase (NADP+) activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145

Other IDs

• MIM: 154100
• HGNC: 6971
• e!Ensembl: ENSG00000146701

Protein

• UniProt ID: P40926
• Protein name: Malate dehydrogenase, mitochondrial (EC 1.1.1.37)
• PDB: 2DFD, 4WLE, 4WLF, 4WLN, 4WLO, 4WLU, 4WLV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00056	Ldh_1_N	25 → 168	lactate/malate dehydrogenase, NAD binding domain	Family
  PF02866	Ldh_1_C	170 → 334	lactate/malate dehydrogenase, alpha/beta C-terminal domain	Domain

• Sequence:

  MLSALARPASAALRRSFSTSAQNNAKVAVLGASGGIGQPLSLLLKNSPLVSRLTLYDIAH
  TPGVAADLSHIETKAAVKGYLGPEQLPDCLKGCDVVVIPAGVPRKPGMTRDDLFNTNATI
  VATLTAACAQHCPEAMICVIANPVNSTIPITAEVFKKHGVYNPNKIFGVTTLDIVRANTF
  VAELKGLDPARVNVPVIGGHAGKTIIPLISQCTPKVDFPQDQLTALTGRIQEAGTEVVKA
  KAGAGSATLSMAYAGARFVFSLVDAMNGKEGVVECSFVKSQETECTYFSTPLLLGKKGIE
  KNLGIGKVSSFEEKMISDAIPELKASIKKGEDFVKTLK

• Sequence length: 338

Pathways

KEGG:

Citrate cycle (TCA cycle)
Cysteine and methionine metabolism
Pyruvate metabolism
Glyoxylate and dicarboxylate metabolism
Metabolic pathways
Carbon metabolism

Reactome:

Gluconeogenesis
Citric acid cycle (TCA cycle)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	12376462
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	27989324
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	27989324
Glomerulonephritis	Glomerulonephritis	rs778043831
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hereditary pheochromocytoma-paraganglioma	Hereditary pheochromocytoma-paraganglioma	rs121908826, rs121908830, rs121908821, rs113560320, rs80338843, rs80338844, rs80338845, rs104894304, rs104894305, rs104894306, rs80338842, rs80338847, rs587776649, rs587776653, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs267607032, rs80338846, rs387906650, rs387906651, rs398122805, rs193922610, rs201286421, rs397516833, rs397516836, rs121908813, rs121908822, rs121908814, rs121908815, rs587778661, rs587781270, rs587781773, rs587781931, rs397516835, rs587782243, rs587782604, rs74315370, rs587782703, rs587782904, rs727503415, rs727504457, rs727503490, rs786203457, rs764575966, rs786201085, rs138996609, rs200245469, rs786202732, rs786201161, rs786201095, rs786201316, rs786201063, rs772551056, rs747198089, rs786203800, rs786203067, rs786203385, rs786202340, rs751000085, rs794728946, rs876660642, rs876658461, rs876658367, rs876658540, rs876658451, rs876658713, rs876658477, rs786203251, rs878854575, rs886039439, rs886041237, rs1057517818, rs774508076, rs121908816, rs1060501387, rs778582853, rs781590955, rs1060503751, rs1060500101, rs1553436874, rs898854295, rs981049067, rs778952116, rs1131691061, rs1131691049, rs1553266474, rs34309090, rs762812025, rs1131691052, rs1045881797, rs528442805, rs1553177672, rs1553177679, rs1553177687, rs1553177739, rs1553177742, rs1480267715, rs1553177772, rs1553178040, rs1553178041, rs760169139, rs1553179313, rs1306475361, rs1555187010, rs1555187083, rs1555187570, rs1050032491, rs1555187601, rs780133289, rs1553437737, rs1553437028, rs121908818, rs749527870, rs1553179359, rs1215337884, rs1553261757, rs1553177688, rs786202200, rs747249998, rs753554501, rs1554984631, rs1193255946, rs1555340550, rs1558756727, rs1558752379, rs1558752468, rs1553177290, rs1573969322, rs1167538050, rs1595166895, rs745989557, rs761956866, rs1573977924, rs750979204, rs752477890, rs1570945961, rs2077978300, rs1684148846, rs1684169157, rs1684169953, rs1684398953, rs949388785, rs2063104408, rs2063102803
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Paraganglioma	Paraganglioma	rs113560320, rs104894303, rs80338843, rs587776644, rs80338844, rs80338845, rs104894302, rs587776645, rs104894304, rs104894305, rs587776646, rs104894306, rs387906358, rs121908983, rs80338842, rs80338847, rs397514034, rs104894307, rs587776648, rs104894308, rs104894309, rs104894310, rs587776652, rs587776653, rs1061517, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315370, rs74315371, rs74315372, rs267607032, rs398122805, rs387906780, rs201286421, rs397516833, rs397516836, rs587778661, rs587781270, rs587782077, rs397516835, rs587782243, rs142441643, rs587782604, rs587782703, rs200397144, rs727503415, rs727504457, rs786203457, rs764575966, rs786203251, rs138996609, rs200245469, rs786202732, rs786201161, rs786203529, rs786201316, rs786201063, rs786202100, rs772551056, rs751000085, rs794728947, rs1553179340, rs781764920, rs876658461, rs876658367, rs876658451, rs876658713, rs876658486, rs151170408, rs876659130, rs746165168, rs752360961, rs886041867, rs748089700, rs1057517818, rs755235380, rs1060503757, rs1060503751, rs1060503762, rs1060503767, rs750380279, rs1554001843, rs771328239, rs1064794270, rs1064793567, rs1555187067, rs1131691062, rs898854295, rs778952116, rs1131691057, rs1131691061, rs1045881797, rs1553177666, rs1553998199, rs778207102, rs1554000360, rs553257776, rs1553999072, rs1553997617, rs1553177292, rs1553265817, rs1553998606, rs775827529, rs747939816, rs1159597886, rs1554002451, rs1555187574, rs1553998254, rs1553998613, rs1553177676, rs1553998229, rs747249998, rs775143272, rs1285132774, rs753554501, rs1555186662, rs1555187583, rs1553997340, rs1560980939, rs1560994766, rs751904543, rs1560992565, rs1566690018, rs1567650859, rs1203876038, rs1567650874, rs1567651815, rs1374026152, rs1270341616, rs1553177290, rs1579407009, rs1579437839, rs1579369969, rs1579402807, rs1579409293, rs778516878, rs761956866, rs1423978863, rs1579402180, rs1579410180, rs1734830402, rs1734957331, rs1735791499
Renal carcinoma	Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724

Unknown
Disease name	Disease term	dbSNP ID	References
Adrenal gland pheochromocytoma	Adrenal Gland Pheochromocytoma
Anaplastic carcinoma	Anaplastic carcinoma		12376462
Capillary hemangioma of retina	Capillary hemangioma of retina
Cerebellar atrophy	Cerebellar atrophy
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Cranial nerve compression	Cranial nerve compression
Episodic paroxysmal anxiety	Episodic paroxysmal anxiety
Extra-adrenal pheochromocytoma	Pheochromocytoma, Extra-Adrenal
Glomerulosclerosis	Glomerulosclerosis (disorder)
Hereditary paraganglioma-pheochromocytoma syndromes	Hereditary Paraganglioma-Pheochromocytoma Syndrome		25766404
Hypertensive retinopathy	Hypertensive Retinopathy
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Ovarian epithelial carcinoma	Carcinoma, Ovarian Epithelial		28811376
Panic disorder	Panic Attacks
Paraganglioma of head and neck	Paraganglioma of head and neck
Pulsatile tinnitus	Pulsatile Tinnitus
Sinus tachycardia	Sinus Tachycardia
Strabismus	Strabismus
Vocal cord paralysis	Vocal Cord Paralysis