SLC25A11 (solute carrier family 25 member 11)

Gene

• Entrez ID: 8402
• Gene name: Solute carrier family 25 member 11
• Gene symbol: SLC25A11
• Synonyms (NCBI Gene): OGC, PGL6, PPGL6, SLC20A4
• Disease Acronyms (UniProt): PPGL6
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT612487	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT612486	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT612485	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT612484	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT612483	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT612482	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT612481	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT612480	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT612479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT612478	hsa-miR-3176	HITS-CLIP	23824327
MIRT612477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT612476	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT612487	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT612486	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT612485	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT612484	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT612483	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT612482	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT612481	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT612480	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT612479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT612478	hsa-miR-3176	HITS-CLIP	23824327
MIRT612477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT612476	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT612487	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT612486	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT612485	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT612484	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT612483	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT612482	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT612481	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT612480	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT612479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT612478	hsa-miR-3176	HITS-CLIP	23824327
MIRT612477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT612476	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT612487	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT612486	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT612485	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT612484	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT612483	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT612482	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT612481	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT612480	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT612479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT612478	hsa-miR-3176	HITS-CLIP	23824327
MIRT612477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT612476	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT612487	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT612486	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT612485	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT612484	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT612483	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT612482	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT612481	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT612480	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT612479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT612478	hsa-miR-3176	HITS-CLIP	23824327
MIRT612477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT612476	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT612487	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT612486	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT612485	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT612484	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT612483	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT612482	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT612481	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT612480	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT612479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT612478	hsa-miR-3176	HITS-CLIP	23824327
MIRT612477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT612476	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT612487	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT612486	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT612485	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT612484	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT612483	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT612482	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT612481	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT612480	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT612479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT612478	hsa-miR-3176	HITS-CLIP	23824327
MIRT612477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT612476	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT612487	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT612486	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT612485	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT612484	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT612483	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT612482	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT612481	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT612480	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT612479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT612478	hsa-miR-3176	HITS-CLIP	23824327
MIRT612477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT612476	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT1355109	hsa-miR-1184	CLIP-seq
MIRT1355110	hsa-miR-1205	CLIP-seq
MIRT1355111	hsa-miR-146b-3p	CLIP-seq
MIRT1355112	hsa-miR-1914	CLIP-seq
MIRT1355113	hsa-miR-3158-5p	CLIP-seq
MIRT1355114	hsa-miR-3173-5p	CLIP-seq
MIRT1355115	hsa-miR-3182	CLIP-seq
MIRT1355116	hsa-miR-3184	CLIP-seq
MIRT1355117	hsa-miR-3202	CLIP-seq
MIRT1355118	hsa-miR-423-5p	CLIP-seq
MIRT1355119	hsa-miR-4287	CLIP-seq
MIRT1355120	hsa-miR-4469	CLIP-seq
MIRT1355121	hsa-miR-4476	CLIP-seq
MIRT1355122	hsa-miR-4477a	CLIP-seq
MIRT1355123	hsa-miR-4685-3p	CLIP-seq
MIRT1355124	hsa-miR-4716-3p	CLIP-seq
MIRT1355125	hsa-miR-4723-5p	CLIP-seq
MIRT1355126	hsa-miR-4738-3p	CLIP-seq
MIRT1355127	hsa-miR-548aa	CLIP-seq
MIRT1355128	hsa-miR-626	CLIP-seq
MIRT1355129	hsa-miR-642a	CLIP-seq
MIRT1355130	hsa-miR-874	CLIP-seq
MIRT1355111	hsa-miR-146b-3p	CLIP-seq
MIRT2623951	hsa-miR-1909	CLIP-seq
MIRT1355112	hsa-miR-1914	CLIP-seq
MIRT2623952	hsa-miR-1915	CLIP-seq
MIRT2623953	hsa-miR-2276	CLIP-seq
MIRT2623954	hsa-miR-3132	CLIP-seq
MIRT2623955	hsa-miR-3135b	CLIP-seq
MIRT1355114	hsa-miR-3173-5p	CLIP-seq
MIRT2623956	hsa-miR-3180-5p	CLIP-seq
MIRT1355115	hsa-miR-3182	CLIP-seq
MIRT2623957	hsa-miR-320e	CLIP-seq
MIRT2623958	hsa-miR-3691-3p	CLIP-seq
MIRT2623959	hsa-miR-3919	CLIP-seq
MIRT2623960	hsa-miR-4267	CLIP-seq
MIRT2623961	hsa-miR-4436a	CLIP-seq
MIRT2623962	hsa-miR-4650-3p	CLIP-seq
MIRT2623963	hsa-miR-4662a-5p	CLIP-seq
MIRT2623964	hsa-miR-4696	CLIP-seq
MIRT1355124	hsa-miR-4716-3p	CLIP-seq
MIRT1355125	hsa-miR-4723-5p	CLIP-seq
MIRT1355126	hsa-miR-4738-3p	CLIP-seq
MIRT2623965	hsa-miR-4772-5p	CLIP-seq
MIRT2623966	hsa-miR-4773	CLIP-seq
MIRT2623967	hsa-miR-513a-5p	CLIP-seq
MIRT2623968	hsa-miR-539	CLIP-seq
MIRT1355127	hsa-miR-548aa	CLIP-seq
MIRT1355128	hsa-miR-626	CLIP-seq
MIRT1355130	hsa-miR-874	CLIP-seq
MIRT1355111	hsa-miR-146b-3p	CLIP-seq
MIRT2623951	hsa-miR-1909	CLIP-seq
MIRT1355112	hsa-miR-1914	CLIP-seq
MIRT2623952	hsa-miR-1915	CLIP-seq
MIRT2623953	hsa-miR-2276	CLIP-seq
MIRT2623954	hsa-miR-3132	CLIP-seq
MIRT2623955	hsa-miR-3135b	CLIP-seq
MIRT1355114	hsa-miR-3173-5p	CLIP-seq
MIRT2623956	hsa-miR-3180-5p	CLIP-seq
MIRT1355115	hsa-miR-3182	CLIP-seq
MIRT2623957	hsa-miR-320e	CLIP-seq
MIRT2623958	hsa-miR-3691-3p	CLIP-seq
MIRT2623959	hsa-miR-3919	CLIP-seq
MIRT2623960	hsa-miR-4267	CLIP-seq
MIRT2623961	hsa-miR-4436a	CLIP-seq
MIRT2623962	hsa-miR-4650-3p	CLIP-seq
MIRT2623963	hsa-miR-4662a-5p	CLIP-seq
MIRT2623964	hsa-miR-4696	CLIP-seq
MIRT1355124	hsa-miR-4716-3p	CLIP-seq
MIRT1355125	hsa-miR-4723-5p	CLIP-seq
MIRT1355126	hsa-miR-4738-3p	CLIP-seq
MIRT2623965	hsa-miR-4772-5p	CLIP-seq
MIRT2623966	hsa-miR-4773	CLIP-seq
MIRT2623967	hsa-miR-513a-5p	CLIP-seq
MIRT2623968	hsa-miR-539	CLIP-seq
MIRT1355127	hsa-miR-548aa	CLIP-seq
MIRT1355128	hsa-miR-626	CLIP-seq
MIRT1355130	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	1457818
GO:0006094	Process	Gluconeogenesis	TAS
GO:0008272	Process	Sulfate transport	IBA	21873635
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA	21873635
GO:0015117	Function	Thiosulfate transmembrane transporter activity	IBA	21873635
GO:0015131	Function	Oxaloacetate transmembrane transporter activity	IBA	21873635
GO:0015140	Function	Malate transmembrane transporter activity	IBA	21873635
GO:0015141	Function	Succinate transmembrane transporter activity	IBA	21873635
GO:0015297	Function	Antiporter activity	IBA	21873635
GO:0015367	Function	Oxoglutarate:malate antiporter activity	TAS	1457818
GO:0015709	Process	Thiosulfate transport	IBA	21873635
GO:0015729	Process	Oxaloacetate transport	IBA	21873635
GO:0015742	Process	Alpha-ketoglutarate transport	IEA
GO:0035435	Process	Phosphate ion transmembrane transport	IBA	21873635
GO:0071422	Process	Succinate transmembrane transport	IBA	21873635
GO:0071423	Process	Malate transmembrane transport	IBA	21873635
GO:1902356	Process	Oxaloacetate(2-) transmembrane transport	IEA
GO:1902358	Process	Sulfate transmembrane transport	IEA

Other IDs

• MIM: 604165
• HGNC: 10981
• e!Ensembl: ENSG00000108528

Protein

• UniProt ID: Q02978
• Protein name: Mitochondrial 2-oxoglutarate/malate carrier protein (OGCP) (alpha-oxoglutarate carrier) (Solute carrier family 25 member 11) (SLC25A11)
• Protein function: Catalyzes the transport of 2-oxoglutarate (alpha-oxoglutarate) across the inner mitochondrial membrane in an electroneutral exchange for malate. Can also exchange 2-oxoglutarate for other dicarboxylic acids such as malonate, succinate, maleate a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	18 → 112	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	115 → 213	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	216 → 311	Mitochondrial carrier protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Most highly expressed in the heart. {ECO:0000269|PubMed:21448454}.
• Sequence:

  MAATASAGAGGIDGKPRTSPKSVKFLFGGLAGMGATVFVQPLDLVKNRMQLSGEGAKTRE
  YKTSFHALTSILKAEGLRGIYTGLSAGLLRQATYTTTRLGIYTVLFERLTGADGTPPGFL
  LKAVIGMTAGATGAFVGTPAEVALIRMTADGRLPADQRRGYKNVFNALIRITREEGVLTL
  WRGCIPTMARAVVVNAAQLASYSQSKQFLLDSGYFSDNILCHFCASMISGLVTTAASMPV
  DIAKTRIQNMRMIDGKPEYKNGLDVLFKVVRYEGFFSLWKGFTPYYARLGPHTVLTFIFL
  EQMNKAYKRLFLSG

• Sequence length: 314

Pathways

Reactome:

Gluconeogenesis

Associated diseases

Causal
Disease term	Disease name	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
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
Hypertension	Hypertensive disease	rs13306026
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 term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Hereditary Pheochromocytoma-Paraganglioma	hereditary pheochromocytoma-paraganglioma			GenCC
Diabetes	Diabetes			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Inhibit	32555317
Carcinoma Renal Cell	Associate	37009826
Neoplasm Metastasis	Inhibit	36514121
Neoplasms	Inhibit	36514121
Pancreatic Neoplasms	Associate	36514121