CTH (cystathionine gamma-lyase)

Gene

• Entrez ID: 1491
• Gene name: Cystathionine gamma-lyase
• Gene symbol: CTH
• Synonyms (NCBI Gene): CGL, CSE
• Chromosome: 1
• Chromosome location: 1p31.1
• Summary: This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28941785	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs28941786	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs773107808	C>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019085	hsa-miR-335-5p	Microarray	18185580
MIRT024887	hsa-miR-215-5p	Microarray	19074876
MIRT026956	hsa-miR-192-5p	Microarray	19074876
MIRT030353	hsa-miR-26b-5p	Microarray	19088304
MIRT914677	hsa-miR-106a	CLIP-seq
MIRT914678	hsa-miR-106b	CLIP-seq
MIRT914679	hsa-miR-1193	CLIP-seq
MIRT914680	hsa-miR-1256	CLIP-seq
MIRT914681	hsa-miR-128	CLIP-seq
MIRT914682	hsa-miR-1299	CLIP-seq
MIRT914683	hsa-miR-150	CLIP-seq
MIRT914684	hsa-miR-15a	CLIP-seq
MIRT914685	hsa-miR-15b	CLIP-seq
MIRT914686	hsa-miR-16	CLIP-seq
MIRT914687	hsa-miR-17	CLIP-seq
MIRT914688	hsa-miR-195	CLIP-seq
MIRT914689	hsa-miR-1976	CLIP-seq
MIRT914690	hsa-miR-199a-3p	CLIP-seq
MIRT914691	hsa-miR-199b-3p	CLIP-seq
MIRT914692	hsa-miR-20a	CLIP-seq
MIRT914693	hsa-miR-20b	CLIP-seq
MIRT914694	hsa-miR-2392	CLIP-seq
MIRT914695	hsa-miR-27a	CLIP-seq
MIRT914696	hsa-miR-27b	CLIP-seq
MIRT914697	hsa-miR-302a	CLIP-seq
MIRT914698	hsa-miR-302b	CLIP-seq
MIRT914699	hsa-miR-302c	CLIP-seq
MIRT914700	hsa-miR-302d	CLIP-seq
MIRT914701	hsa-miR-302e	CLIP-seq
MIRT914702	hsa-miR-3129-5p	CLIP-seq
MIRT914703	hsa-miR-3199	CLIP-seq
MIRT914704	hsa-miR-372	CLIP-seq
MIRT914705	hsa-miR-373	CLIP-seq
MIRT914706	hsa-miR-424	CLIP-seq
MIRT914707	hsa-miR-4258	CLIP-seq
MIRT914708	hsa-miR-4269	CLIP-seq
MIRT914709	hsa-miR-4438	CLIP-seq
MIRT914710	hsa-miR-4454	CLIP-seq
MIRT914711	hsa-miR-4524	CLIP-seq
MIRT914712	hsa-miR-4660	CLIP-seq
MIRT914713	hsa-miR-4666-5p	CLIP-seq
MIRT914714	hsa-miR-4676-5p	CLIP-seq
MIRT914715	hsa-miR-4691-5p	CLIP-seq
MIRT914716	hsa-miR-4707-3p	CLIP-seq
MIRT914717	hsa-miR-4720-5p	CLIP-seq
MIRT914718	hsa-miR-4799-3p	CLIP-seq
MIRT914719	hsa-miR-497	CLIP-seq
MIRT914720	hsa-miR-503	CLIP-seq
MIRT914721	hsa-miR-5095	CLIP-seq
MIRT914722	hsa-miR-512-3p	CLIP-seq
MIRT914723	hsa-miR-513a-5p	CLIP-seq
MIRT914724	hsa-miR-519d	CLIP-seq
MIRT914725	hsa-miR-520a-3p	CLIP-seq
MIRT914726	hsa-miR-520b	CLIP-seq
MIRT914727	hsa-miR-520c-3p	CLIP-seq
MIRT914728	hsa-miR-520d-3p	CLIP-seq
MIRT914729	hsa-miR-520e	CLIP-seq
MIRT914730	hsa-miR-548t	CLIP-seq
MIRT914731	hsa-miR-562	CLIP-seq
MIRT914732	hsa-miR-575	CLIP-seq
MIRT914733	hsa-miR-576-5p	CLIP-seq
MIRT914734	hsa-miR-646	CLIP-seq
MIRT914735	hsa-miR-875-3p	CLIP-seq
MIRT914736	hsa-miR-93	CLIP-seq
MIRT914737	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000098	Process	Sulfur amino acid catabolic process	TAS
GO:0004123	Function	Cystathionine gamma-lyase activity	IBA	21873635
GO:0004123	Function	Cystathionine gamma-lyase activity	IDA	10212249, 19019829, 19428278
GO:0005515	Function	Protein binding	IPI	22169477, 25416956, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006534	Process	Cysteine metabolic process	TAS	1339280
GO:0016846	Function	Carbon-sulfur lyase activity	IBA	21873635
GO:0018272	Process	Protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	IDA	19019829
GO:0019343	Process	Cysteine biosynthetic process via cystathionine	IBA	21873635
GO:0019343	Process	Cysteine biosynthetic process via cystathionine	IDA	19428278
GO:0019344	Process	Cysteine biosynthetic process	IDA	10212249
GO:0019346	Process	Transsulfuration	IBA	21873635
GO:0019346	Process	Transsulfuration	IDA	19428278
GO:0019346	Process	Transsulfuration	TAS
GO:0030170	Function	Pyridoxal phosphate binding	IBA	21873635
GO:0030170	Function	Pyridoxal phosphate binding	IDA	10212249, 19019829
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS	22169477
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 32296183
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA
GO:0044524	Process	Protein sulfhydration	IMP	22169477
GO:0044540	Function	L-cystine L-cysteine-lyase (deaminating)	IMP	22169477
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IEA
GO:0051289	Process	Protein homotetramerization	IPI	19019829
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070814	Process	Hydrogen sulfide biosynthetic process	IDA	19019829
GO:0070814	Process	Hydrogen sulfide biosynthetic process	TAS	19428278
GO:0080146	Function	L-cysteine desulfhydrase activity	IEA
GO:1904831	Process	Positive regulation of aortic smooth muscle cell differentiation	IMP	21659522
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 607657
• HGNC: 2501
• e!Ensembl: ENSG00000116761

Protein

• UniProt ID: P32929
• Protein name: Cystathionine gamma-lyase (CGL) (CSE) (EC 4.4.1.1) (Cysteine desulfhydrase) (Cysteine-protein sulfhydrase) (Gamma-cystathionase) (Homocysteine desulfhydrase) (EC 4.4.1.2)
• Protein function: Catalyzes the last step in the trans-sulfuration pathway from L-methionine to L-cysteine in a pyridoxal-5'-phosphate (PLP)-dependent manner, which consists on cleaving the L,L-cystathionine molecule into L-cysteine, ammonia and 2-oxobutanoate (P
• PDB: 2NMP, 3COG, 3ELP, 5EIG, 5TSU, 5TT2, 6NBA, 6OVG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01053	Cys_Met_Meta_PP	19 → 395	Cys/Met metabolism PLP-dependent enzyme	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in liver (PubMed:10727430, PubMed:20305127). Also in muscle and lower expression in most tissues except heart, pituitary gland, spleen, thymus, and vascular tissue, where it is hardly detected (PubMed:20305127). {ECO:0
• Sequence:

  MQEKDASSQGFLPHFQHFATQAIHVGQDPEQWTSRAVVPPISLSTTFKQGAPGQHSGFEY
  SRSGNPTRNCLEKAVAALDGAKYCLAFASGLAATVTITHLLKAGDQIICMDDVYGGTNRY
  FRQVASEFGLKISFVDCSKIKLLEAAITPETKLVWIETPTNPTQKVIDIEGCAHIVHKHG
  DIILVVDNTFMSPYFQRPLALGADISMYSATKYMNGHSDVVMGLVSVNCESLHNRLRFLQ
  NSLGAVPSPIDCYLCNRGLKTLHVRMEKHFKNGMAVAQFLESNPWVEKVIYPGLPSHPQH
  ELVKRQCTGCTGMVTFYIKGTLQHAEIFLKNLKLFTLAESLGGFESLAELPAIMTHASVL
  KNDRDVLGISDTLIRLSVGLEDEEDLLEDLDQALKAAHPPSGSHS

• Sequence length: 405

Pathways

KEGG:

Glycine, serine and threonine metabolism
Cysteine and methionine metabolism
Selenocompound metabolism
One carbon pool by folate
Metabolic pathways
Biosynthesis of amino acids

Reactome:

Degradation of cysteine and homocysteine
Cysteine formation from homocysteine

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cystathioninuria	Cystathioninuria	rs748374528, rs28941786, rs773107808
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	25205294
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131

Unknown
Disease term	Disease name	Evidence	References	Source
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	38107574
Aortic Aneurysm Abdominal	Inhibit	27362269
Atherosclerosis	Inhibit	35090378
Breast Neoplasms	Associate	39362925
Carcinogenesis	Associate	29694444
Carcinoma Embryonal	Stimulate	34475040
Carcinoma Endometrioid	Associate	35106124
Carcinoma Hepatocellular	Associate	33522955
Carcinoma Renal Cell	Associate	27713570, 29793450, 32871814
Chromosome 1 monosomy 1p	Associate	30726924
Chronic Limb Threatening Ischemia	Inhibit	25977470
Cognitive Dysfunction	Associate	35682634
Colorectal Neoplasms	Associate	29694444, 33510426
Endocrine System Diseases	Associate	36952646
Endodermal Sinus Tumor	Associate	34475040
Glioma	Associate	30726924
Glomerulonephritis Membranous	Associate	30221719
Homocystinuria	Associate	30341787, 36306676
Hypoxia	Inhibit	23410520
Inflammation	Associate	37203402
Labor Pain	Inhibit	29249255
Myocardial Infarction	Associate	36279151
Necrosis	Associate	35090378
Neoplasm Metastasis	Associate	33522955, 39362925
Neoplasms	Associate	39362925
Neoplasms Cystic Mucinous and Serous	Inhibit	35106124
Pancreatic Neoplasms	Associate	26820738, 36514219
Pre Eclampsia	Inhibit	23410520
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	36952646
Sarcopenia	Associate	35682634
Seminoma	Associate	34475040
Stomach Neoplasms	Associate	26078811
Stomach Ulcer	Associate	26060478
Testicular Germ Cell Tumor	Associate	34475040
Testicular Neoplasms	Associate	34475040
Urethral Neoplasms	Associate	35605291
Varicose Veins	Associate	27362269