SDHAF2 (succinate dehydrogenase complex assembly factor 2)

Gene

• Entrez ID: 54949
• Gene name: Succinate dehydrogenase complex assembly factor 2
• Gene symbol: SDHAF2
• Synonyms (NCBI Gene): C11orf79, PGL2, PPGL2, SDH5, hSDH5
• Disease Acronyms (UniProt): PPGL2
• Chromosome: 11
• Chromosome location: 11q12.2
• Summary: This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113560320	G>A	Pathogenic	Missense variant, coding sequence variant
rs375280597	A>G	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs745989557	A>G,T	Likely-pathogenic	Splice acceptor variant
rs749527870	G>A	Likely-pathogenic	Splice donor variant
rs750979204	T>A,C	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs753554501	->A	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs761956866	G>C,T	Likely-pathogenic	Splice acceptor variant
rs774508076	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs876658350	G>A	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs1554984631	->T	Pathogenic	Coding sequence variant, stop gained
rs1590764868	->AGCCC	Pathogenic	Coding sequence variant, frameshift variant
rs1590764905	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031763	hsa-miR-16-5p	Proteomics	18668040
MIRT720579	hsa-miR-5586-5p	HITS-CLIP	19536157
MIRT720578	hsa-miR-425-5p	HITS-CLIP	19536157
MIRT720577	hsa-miR-4530	HITS-CLIP	19536157
MIRT720576	hsa-miR-338-3p	HITS-CLIP	19536157
MIRT720575	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT720574	hsa-miR-642a-3p	HITS-CLIP	19536157
MIRT720573	hsa-miR-642b-3p	HITS-CLIP	19536157
MIRT720572	hsa-miR-661	HITS-CLIP	19536157
MIRT642764	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT642763	hsa-miR-382-3p	HITS-CLIP	23824327
MIRT642762	hsa-miR-3183	HITS-CLIP	23824327
MIRT642761	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT642759	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT642760	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT642758	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT642757	hsa-miR-8078	HITS-CLIP	23824327
MIRT642755	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT642756	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT642754	hsa-miR-1287-3p	HITS-CLIP	23824327
MIRT642753	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT720579	hsa-miR-5586-5p	HITS-CLIP	19536157
MIRT720578	hsa-miR-425-5p	HITS-CLIP	19536157
MIRT720577	hsa-miR-4530	HITS-CLIP	19536157
MIRT720576	hsa-miR-338-3p	HITS-CLIP	19536157
MIRT720575	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT720574	hsa-miR-642a-3p	HITS-CLIP	19536157
MIRT720573	hsa-miR-642b-3p	HITS-CLIP	19536157
MIRT720572	hsa-miR-661	HITS-CLIP	19536157
MIRT642764	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT642763	hsa-miR-382-3p	HITS-CLIP	23824327
MIRT642762	hsa-miR-3183	HITS-CLIP	23824327
MIRT642761	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT642759	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT642760	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT642758	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT642757	hsa-miR-8078	HITS-CLIP	23824327
MIRT642755	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT642756	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT642754	hsa-miR-1287-3p	HITS-CLIP	23824327
MIRT642753	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT1331786	hsa-miR-1204	CLIP-seq
MIRT1331787	hsa-miR-1285	CLIP-seq
MIRT1331788	hsa-miR-1286	CLIP-seq
MIRT1331789	hsa-miR-1304	CLIP-seq
MIRT1331790	hsa-miR-1827	CLIP-seq
MIRT1331791	hsa-miR-23a	CLIP-seq
MIRT1331792	hsa-miR-23b	CLIP-seq
MIRT1331793	hsa-miR-23c	CLIP-seq
MIRT1331794	hsa-miR-24	CLIP-seq
MIRT1331795	hsa-miR-2467-5p	CLIP-seq
MIRT1331796	hsa-miR-297	CLIP-seq
MIRT1331797	hsa-miR-3152-5p	CLIP-seq
MIRT1331798	hsa-miR-3160-3p	CLIP-seq
MIRT1331799	hsa-miR-3187-5p	CLIP-seq
MIRT1331800	hsa-miR-34b	CLIP-seq
MIRT1331801	hsa-miR-3545-5p	CLIP-seq
MIRT1331802	hsa-miR-3613-3p	CLIP-seq
MIRT1331803	hsa-miR-3614-5p	CLIP-seq
MIRT1331804	hsa-miR-3653	CLIP-seq
MIRT1331805	hsa-miR-3945	CLIP-seq
MIRT1331806	hsa-miR-3975	CLIP-seq
MIRT1331807	hsa-miR-4253	CLIP-seq
MIRT1331808	hsa-miR-4289	CLIP-seq
MIRT1331809	hsa-miR-4436b-3p	CLIP-seq
MIRT1331810	hsa-miR-4527	CLIP-seq
MIRT1331811	hsa-miR-4666-5p	CLIP-seq
MIRT1331812	hsa-miR-4708-3p	CLIP-seq
MIRT1331813	hsa-miR-4712-3p	CLIP-seq
MIRT1331814	hsa-miR-4761-3p	CLIP-seq
MIRT1331815	hsa-miR-4771	CLIP-seq
MIRT1331816	hsa-miR-485-5p	CLIP-seq
MIRT1331817	hsa-miR-499a-5p	CLIP-seq
MIRT1331818	hsa-miR-513a-3p	CLIP-seq
MIRT1331819	hsa-miR-518d-5p	CLIP-seq
MIRT1331820	hsa-miR-519b-5p	CLIP-seq
MIRT1331821	hsa-miR-519c-5p	CLIP-seq
MIRT1331822	hsa-miR-520c-5p	CLIP-seq
MIRT1331823	hsa-miR-526a	CLIP-seq
MIRT1331824	hsa-miR-548l	CLIP-seq
MIRT1331825	hsa-miR-548n	CLIP-seq
MIRT1331826	hsa-miR-562	CLIP-seq
MIRT1331827	hsa-miR-567	CLIP-seq
MIRT1331828	hsa-miR-580	CLIP-seq
MIRT1331829	hsa-miR-612	CLIP-seq
MIRT1331830	hsa-miR-676	CLIP-seq
MIRT1331831	hsa-miR-940	CLIP-seq
MIRT1331789	hsa-miR-1304	CLIP-seq
MIRT1331790	hsa-miR-1827	CLIP-seq
MIRT1331803	hsa-miR-3614-5p	CLIP-seq
MIRT1331831	hsa-miR-940	CLIP-seq
MIRT2098047	hsa-miR-1202	CLIP-seq
MIRT2098048	hsa-miR-3194-5p	CLIP-seq
MIRT2098049	hsa-miR-3972	CLIP-seq
MIRT2098050	hsa-miR-4738-5p	CLIP-seq
MIRT2098051	hsa-miR-628-5p	CLIP-seq
MIRT1331786	hsa-miR-1204	CLIP-seq
MIRT2322718	hsa-miR-1244	CLIP-seq
MIRT1331788	hsa-miR-1286	CLIP-seq
MIRT1331789	hsa-miR-1304	CLIP-seq
MIRT2322719	hsa-miR-1587	CLIP-seq
MIRT1331790	hsa-miR-1827	CLIP-seq
MIRT2322720	hsa-miR-1911	CLIP-seq
MIRT1331791	hsa-miR-23a	CLIP-seq
MIRT1331792	hsa-miR-23b	CLIP-seq
MIRT1331793	hsa-miR-23c	CLIP-seq
MIRT1331794	hsa-miR-24	CLIP-seq
MIRT1331795	hsa-miR-2467-5p	CLIP-seq
MIRT1331796	hsa-miR-297	CLIP-seq
MIRT1331798	hsa-miR-3160-3p	CLIP-seq
MIRT1331800	hsa-miR-34b	CLIP-seq
MIRT1331801	hsa-miR-3545-5p	CLIP-seq
MIRT1331802	hsa-miR-3613-3p	CLIP-seq
MIRT1331803	hsa-miR-3614-5p	CLIP-seq
MIRT2322721	hsa-miR-371b-3p	CLIP-seq
MIRT1331806	hsa-miR-3975	CLIP-seq
MIRT1331808	hsa-miR-4289	CLIP-seq
MIRT2322722	hsa-miR-4290	CLIP-seq
MIRT2322723	hsa-miR-4492	CLIP-seq
MIRT2322724	hsa-miR-4494	CLIP-seq
MIRT2322725	hsa-miR-4498	CLIP-seq
MIRT2322726	hsa-miR-4499	CLIP-seq
MIRT2322727	hsa-miR-4649-3p	CLIP-seq
MIRT2322728	hsa-miR-4656	CLIP-seq
MIRT1331811	hsa-miR-4666-5p	CLIP-seq
MIRT2322729	hsa-miR-4674	CLIP-seq
MIRT2322730	hsa-miR-4675	CLIP-seq
MIRT2322731	hsa-miR-4699-5p	CLIP-seq
MIRT1331813	hsa-miR-4712-3p	CLIP-seq
MIRT2322732	hsa-miR-4724-5p	CLIP-seq
MIRT2322733	hsa-miR-4741	CLIP-seq
MIRT1331815	hsa-miR-4771	CLIP-seq
MIRT1331816	hsa-miR-485-5p	CLIP-seq
MIRT1331817	hsa-miR-499a-5p	CLIP-seq
MIRT1331824	hsa-miR-548l	CLIP-seq
MIRT1331825	hsa-miR-548n	CLIP-seq
MIRT1331826	hsa-miR-562	CLIP-seq
MIRT1331827	hsa-miR-567	CLIP-seq
MIRT1331828	hsa-miR-580	CLIP-seq
MIRT2322734	hsa-miR-635	CLIP-seq
MIRT1331830	hsa-miR-676	CLIP-seq
MIRT2322735	hsa-miR-762	CLIP-seq
MIRT1331831	hsa-miR-940	CLIP-seq
MIRT1331788	hsa-miR-1286	CLIP-seq
MIRT1331789	hsa-miR-1304	CLIP-seq
MIRT1331790	hsa-miR-1827	CLIP-seq
MIRT1331791	hsa-miR-23a	CLIP-seq
MIRT1331792	hsa-miR-23b	CLIP-seq
MIRT1331793	hsa-miR-23c	CLIP-seq
MIRT1331794	hsa-miR-24	CLIP-seq
MIRT1331795	hsa-miR-2467-5p	CLIP-seq
MIRT1331796	hsa-miR-297	CLIP-seq
MIRT1331798	hsa-miR-3160-3p	CLIP-seq
MIRT1331800	hsa-miR-34b	CLIP-seq
MIRT1331801	hsa-miR-3545-5p	CLIP-seq
MIRT1331802	hsa-miR-3613-3p	CLIP-seq
MIRT1331803	hsa-miR-3614-5p	CLIP-seq
MIRT1331806	hsa-miR-3975	CLIP-seq
MIRT1331808	hsa-miR-4289	CLIP-seq
MIRT1331810	hsa-miR-4527	CLIP-seq
MIRT1331811	hsa-miR-4666-5p	CLIP-seq
MIRT2618797	hsa-miR-4667-5p	CLIP-seq
MIRT2618798	hsa-miR-4700-5p	CLIP-seq
MIRT1331813	hsa-miR-4712-3p	CLIP-seq
MIRT2618799	hsa-miR-4755-3p	CLIP-seq
MIRT1331816	hsa-miR-485-5p	CLIP-seq
MIRT1331824	hsa-miR-548l	CLIP-seq
MIRT1331825	hsa-miR-548n	CLIP-seq
MIRT1331827	hsa-miR-567	CLIP-seq
MIRT1331828	hsa-miR-580	CLIP-seq
MIRT2618800	hsa-miR-637	CLIP-seq
MIRT1331830	hsa-miR-676	CLIP-seq
MIRT1331831	hsa-miR-940	CLIP-seq
MIRT1331788	hsa-miR-1286	CLIP-seq
MIRT1331789	hsa-miR-1304	CLIP-seq
MIRT1331790	hsa-miR-1827	CLIP-seq
MIRT1331791	hsa-miR-23a	CLIP-seq
MIRT1331792	hsa-miR-23b	CLIP-seq
MIRT1331793	hsa-miR-23c	CLIP-seq
MIRT1331794	hsa-miR-24	CLIP-seq
MIRT1331795	hsa-miR-2467-5p	CLIP-seq
MIRT1331796	hsa-miR-297	CLIP-seq
MIRT1331798	hsa-miR-3160-3p	CLIP-seq
MIRT1331800	hsa-miR-34b	CLIP-seq
MIRT1331801	hsa-miR-3545-5p	CLIP-seq
MIRT1331802	hsa-miR-3613-3p	CLIP-seq
MIRT1331803	hsa-miR-3614-5p	CLIP-seq
MIRT1331806	hsa-miR-3975	CLIP-seq
MIRT1331808	hsa-miR-4289	CLIP-seq
MIRT1331810	hsa-miR-4527	CLIP-seq
MIRT1331811	hsa-miR-4666-5p	CLIP-seq
MIRT2618797	hsa-miR-4667-5p	CLIP-seq
MIRT2618798	hsa-miR-4700-5p	CLIP-seq
MIRT1331813	hsa-miR-4712-3p	CLIP-seq
MIRT2618799	hsa-miR-4755-3p	CLIP-seq
MIRT1331816	hsa-miR-485-5p	CLIP-seq
MIRT1331824	hsa-miR-548l	CLIP-seq
MIRT1331825	hsa-miR-548n	CLIP-seq
MIRT1331827	hsa-miR-567	CLIP-seq
MIRT1331828	hsa-miR-580	CLIP-seq
MIRT2618800	hsa-miR-637	CLIP-seq
MIRT1331830	hsa-miR-676	CLIP-seq
MIRT1331831	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19628817, 26496610, 28514442, 32296183
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	19628817
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006099	Process	Tricarboxylic acid cycle	IBA	21873635
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	IBA	21873635
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	IMP	19628817
GO:0006470	Process	Protein dephosphorylation	IGI	23983127
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IMP	23983127
GO:0018293	Process	Protein-FAD linkage	IBA	21873635
GO:0018293	Process	Protein-FAD linkage	IMP	19628817
GO:0034553	Process	Mitochondrial respiratory chain complex II assembly	IBA	21873635
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IGI	23983127

Other IDs

• MIM: 613019
• HGNC: 26034
• e!Ensembl: ENSG00000167985

Protein

• UniProt ID: Q9NX18
• Protein name: Succinate dehydrogenase assembly factor 2, mitochondrial (SDH assembly factor 2) (SDHAF2)
• Protein function: Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chai
• PDB: 6VAX, 8DYD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03937	Sdh5	67 → 140	Flavinator of succinate dehydrogenase	Domain

• Sequence:

  MAVSTVFSTSSLMLALSRHSLLSPLLSVTSFRRFYRGDSPTDSQKDMIEIPLPPWQERTD
  ESIETKRARLLYESRKRGMLENCILLSLFAKEHLQHMTEKQLNLYDRLINEPSNDWDIYY
  WATEAKPAPEIFENEVMALLRDFAKNKNKEQRLRAPDLEYLFEKPR

• Sequence length: 166

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
Carcinoma	Carcinoma, Neuroendocrine	rs121912654, rs555607708, rs786202962, rs1564055259
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, PARAGANGLIOMAS 2 (disorder)	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	19628817
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

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	33560870
Cholangiocarcinoma	Associate	35841118
Cluster Headache	Associate	27659016
Head and Neck Neoplasms	Associate	21224366
Neoplasms	Associate	19628817, 21224366, 28099933
Neoplasms	Inhibit	22972948
Neoplastic Syndromes Hereditary	Associate	19628817, 20484225, 22972948, 28099933
Neuroendocrine Tumors	Associate	19628817
Ovarian Neoplasms	Associate	33560870
Paraganglioma	Associate	16080474, 19628817, 19732718, 22972948, 24466223, 25459911, 27659016, 28099933, 28384794, 8981955
Paraganglioma Extra Adrenal	Associate	28384794
Pheochromocytoma	Associate	20484225, 22972948, 24466223, 24694336, 25494863, 28099933, 28384794, 35026032
Uterine Cervical Neoplasms	Associate	31744495