PPT2 (palmitoyl-protein thioesterase 2)

Gene

• Entrez ID: 9374
• Gene name: Palmitoyl-protein thioesterase 2
• Gene symbol: PPT2
• Synonyms (NCBI Gene): C6orf8, G14, PPT-2
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing re

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027637	hsa-miR-98-5p	Microarray	19088304
MIRT1259204	hsa-miR-2114	CLIP-seq
MIRT1259205	hsa-miR-3132	CLIP-seq
MIRT1259206	hsa-miR-4286	CLIP-seq
MIRT1259207	hsa-miR-4639-3p	CLIP-seq
MIRT1259208	hsa-miR-642a	CLIP-seq
MIRT1259209	hsa-miR-1200	CLIP-seq
MIRT1259210	hsa-miR-1254	CLIP-seq
MIRT1259211	hsa-miR-1303	CLIP-seq
MIRT1259212	hsa-miR-141	CLIP-seq
MIRT1259213	hsa-miR-150	CLIP-seq
MIRT1259214	hsa-miR-15a	CLIP-seq
MIRT1259215	hsa-miR-15b	CLIP-seq
MIRT1259216	hsa-miR-16	CLIP-seq
MIRT1259217	hsa-miR-191	CLIP-seq
MIRT1259218	hsa-miR-1915	CLIP-seq
MIRT1259219	hsa-miR-195	CLIP-seq
MIRT1259220	hsa-miR-200a	CLIP-seq
MIRT1259204	hsa-miR-2114	CLIP-seq
MIRT1259221	hsa-miR-2467-3p	CLIP-seq
MIRT1259222	hsa-miR-2861	CLIP-seq
MIRT1259223	hsa-miR-2964a-5p	CLIP-seq
MIRT1259224	hsa-miR-3116	CLIP-seq
MIRT1259225	hsa-miR-3117-5p	CLIP-seq
MIRT1259226	hsa-miR-3123	CLIP-seq
MIRT1259227	hsa-miR-3125	CLIP-seq
MIRT1259205	hsa-miR-3132	CLIP-seq
MIRT1259228	hsa-miR-3145-5p	CLIP-seq
MIRT1259229	hsa-miR-3179	CLIP-seq
MIRT1259230	hsa-miR-3202	CLIP-seq
MIRT1259231	hsa-miR-3677-5p	CLIP-seq
MIRT1259232	hsa-miR-3916	CLIP-seq
MIRT1259233	hsa-miR-3925-5p	CLIP-seq
MIRT1259234	hsa-miR-424	CLIP-seq
MIRT1259206	hsa-miR-4286	CLIP-seq
MIRT1259235	hsa-miR-4324	CLIP-seq
MIRT1259236	hsa-miR-4428	CLIP-seq
MIRT1259237	hsa-miR-4468	CLIP-seq
MIRT1259238	hsa-miR-4475	CLIP-seq
MIRT1259239	hsa-miR-4476	CLIP-seq
MIRT1259240	hsa-miR-4481	CLIP-seq
MIRT1259241	hsa-miR-4512	CLIP-seq
MIRT1259242	hsa-miR-4533	CLIP-seq
MIRT1259207	hsa-miR-4639-3p	CLIP-seq
MIRT1259243	hsa-miR-4652-5p	CLIP-seq
MIRT1259244	hsa-miR-4691-3p	CLIP-seq
MIRT1259245	hsa-miR-4713-5p	CLIP-seq
MIRT1259246	hsa-miR-4726-3p	CLIP-seq
MIRT1259247	hsa-miR-4745-5p	CLIP-seq
MIRT1259248	hsa-miR-4758-5p	CLIP-seq
MIRT1259249	hsa-miR-497	CLIP-seq
MIRT1259250	hsa-miR-508-5p	CLIP-seq
MIRT1259251	hsa-miR-515-5p	CLIP-seq
MIRT1259252	hsa-miR-532-3p	CLIP-seq
MIRT1259253	hsa-miR-541	CLIP-seq
MIRT1259254	hsa-miR-544b	CLIP-seq
MIRT1259255	hsa-miR-545	CLIP-seq
MIRT1259256	hsa-miR-548ac	CLIP-seq
MIRT1259257	hsa-miR-548ae	CLIP-seq
MIRT1259258	hsa-miR-548aj	CLIP-seq
MIRT1259259	hsa-miR-548am	CLIP-seq
MIRT1259260	hsa-miR-548d-3p	CLIP-seq
MIRT1259261	hsa-miR-548p	CLIP-seq
MIRT1259262	hsa-miR-548x	CLIP-seq
MIRT1259263	hsa-miR-548z	CLIP-seq
MIRT1259264	hsa-miR-583	CLIP-seq
MIRT1259208	hsa-miR-642a	CLIP-seq
MIRT1259265	hsa-miR-645	CLIP-seq
MIRT1259266	hsa-miR-654-5p	CLIP-seq
MIRT1259267	hsa-miR-661	CLIP-seq
MIRT1259268	hsa-miR-765	CLIP-seq
MIRT2076384	hsa-miR-1234	CLIP-seq
MIRT1259210	hsa-miR-1254	CLIP-seq
MIRT2076385	hsa-miR-1275	CLIP-seq
MIRT1259211	hsa-miR-1303	CLIP-seq
MIRT1259212	hsa-miR-141	CLIP-seq
MIRT1259217	hsa-miR-191	CLIP-seq
MIRT1259220	hsa-miR-200a	CLIP-seq
MIRT1259204	hsa-miR-2114	CLIP-seq
MIRT2076386	hsa-miR-219-2-3p	CLIP-seq
MIRT2076387	hsa-miR-2355-5p	CLIP-seq
MIRT1259223	hsa-miR-2964a-5p	CLIP-seq
MIRT1259224	hsa-miR-3116	CLIP-seq
MIRT1259225	hsa-miR-3117-5p	CLIP-seq
MIRT1259226	hsa-miR-3123	CLIP-seq
MIRT1259205	hsa-miR-3132	CLIP-seq
MIRT2076388	hsa-miR-3689a-3p	CLIP-seq
MIRT2076389	hsa-miR-3689c	CLIP-seq
MIRT1259233	hsa-miR-3925-5p	CLIP-seq
MIRT2076390	hsa-miR-3938	CLIP-seq
MIRT2076391	hsa-miR-4259	CLIP-seq
MIRT2076392	hsa-miR-4266	CLIP-seq
MIRT1259206	hsa-miR-4286	CLIP-seq
MIRT2076393	hsa-miR-4425	CLIP-seq
MIRT2076394	hsa-miR-4446-3p	CLIP-seq
MIRT2076395	hsa-miR-4525	CLIP-seq
MIRT1259207	hsa-miR-4639-3p	CLIP-seq
MIRT1259243	hsa-miR-4652-5p	CLIP-seq
MIRT2076396	hsa-miR-4656	CLIP-seq
MIRT2076397	hsa-miR-4665-3p	CLIP-seq
MIRT2076398	hsa-miR-4665-5p	CLIP-seq
MIRT2076399	hsa-miR-4712-3p	CLIP-seq
MIRT2076400	hsa-miR-4721	CLIP-seq
MIRT2076401	hsa-miR-4723-5p	CLIP-seq
MIRT2076402	hsa-miR-4728-5p	CLIP-seq
MIRT2076403	hsa-miR-4802-5p	CLIP-seq
MIRT2076404	hsa-miR-490-5p	CLIP-seq
MIRT2076405	hsa-miR-571	CLIP-seq
MIRT2076406	hsa-miR-616	CLIP-seq
MIRT2076407	hsa-miR-625	CLIP-seq
MIRT1259208	hsa-miR-642a	CLIP-seq
MIRT2076408	hsa-miR-939	CLIP-seq
MIRT2076385	hsa-miR-1275	CLIP-seq
MIRT1259212	hsa-miR-141	CLIP-seq
MIRT1259213	hsa-miR-150	CLIP-seq
MIRT1259217	hsa-miR-191	CLIP-seq
MIRT1259218	hsa-miR-1915	CLIP-seq
MIRT2303054	hsa-miR-196a	CLIP-seq
MIRT2303055	hsa-miR-196b	CLIP-seq
MIRT1259220	hsa-miR-200a	CLIP-seq
MIRT1259222	hsa-miR-2861	CLIP-seq
MIRT1259225	hsa-miR-3117-5p	CLIP-seq
MIRT1259228	hsa-miR-3145-5p	CLIP-seq
MIRT2303056	hsa-miR-3199	CLIP-seq
MIRT2303057	hsa-miR-3591-3p	CLIP-seq
MIRT2303058	hsa-miR-4272	CLIP-seq
MIRT1259206	hsa-miR-4286	CLIP-seq
MIRT2303059	hsa-miR-4515	CLIP-seq
MIRT2076395	hsa-miR-4525	CLIP-seq
MIRT1259207	hsa-miR-4639-3p	CLIP-seq
MIRT2076398	hsa-miR-4665-5p	CLIP-seq
MIRT1259245	hsa-miR-4713-5p	CLIP-seq
MIRT2076401	hsa-miR-4723-5p	CLIP-seq
MIRT1259246	hsa-miR-4726-3p	CLIP-seq
MIRT1259250	hsa-miR-508-5p	CLIP-seq
MIRT1259252	hsa-miR-532-3p	CLIP-seq
MIRT2303060	hsa-miR-548m	CLIP-seq
MIRT2076407	hsa-miR-625	CLIP-seq
MIRT2303061	hsa-miR-637	CLIP-seq
MIRT1259265	hsa-miR-645	CLIP-seq
MIRT2076408	hsa-miR-939	CLIP-seq
MIRT1259217	hsa-miR-191	CLIP-seq
MIRT1259225	hsa-miR-3117-5p	CLIP-seq
MIRT1259206	hsa-miR-4286	CLIP-seq
MIRT1259238	hsa-miR-4475	CLIP-seq
MIRT2076408	hsa-miR-939	CLIP-seq
MIRT2442504	hsa-miR-3160-5p	CLIP-seq
MIRT2442505	hsa-miR-326	CLIP-seq
MIRT2442506	hsa-miR-330-5p	CLIP-seq
MIRT2442507	hsa-miR-3614-5p	CLIP-seq
MIRT2442508	hsa-miR-378	CLIP-seq
MIRT2442509	hsa-miR-378b	CLIP-seq
MIRT2442510	hsa-miR-378c	CLIP-seq
MIRT2442511	hsa-miR-378d	CLIP-seq
MIRT2442512	hsa-miR-378e	CLIP-seq
MIRT2442513	hsa-miR-378f	CLIP-seq
MIRT2442514	hsa-miR-378h	CLIP-seq
MIRT2442515	hsa-miR-378i	CLIP-seq
MIRT2442516	hsa-miR-3913-3p	CLIP-seq
MIRT2442517	hsa-miR-3922-5p	CLIP-seq
MIRT2442518	hsa-miR-422a	CLIP-seq
MIRT2442519	hsa-miR-4638-3p	CLIP-seq
MIRT2442520	hsa-miR-4686	CLIP-seq
MIRT2442521	hsa-miR-4717-5p	CLIP-seq
MIRT2442522	hsa-miR-4753-5p	CLIP-seq
MIRT2442523	hsa-miR-489	CLIP-seq
MIRT2442524	hsa-miR-593	CLIP-seq
MIRT1259211	hsa-miR-1303	CLIP-seq
MIRT2599786	hsa-miR-151-5p	CLIP-seq
MIRT2599787	hsa-miR-151b	CLIP-seq
MIRT1259217	hsa-miR-191	CLIP-seq
MIRT1259204	hsa-miR-2114	CLIP-seq
MIRT1259223	hsa-miR-2964a-5p	CLIP-seq
MIRT1259225	hsa-miR-3117-5p	CLIP-seq
MIRT1259226	hsa-miR-3123	CLIP-seq
MIRT1259205	hsa-miR-3132	CLIP-seq
MIRT2442504	hsa-miR-3160-5p	CLIP-seq
MIRT2442505	hsa-miR-326	CLIP-seq
MIRT2442506	hsa-miR-330-5p	CLIP-seq
MIRT2442507	hsa-miR-3614-5p	CLIP-seq
MIRT2076388	hsa-miR-3689a-3p	CLIP-seq
MIRT2076389	hsa-miR-3689c	CLIP-seq
MIRT2442508	hsa-miR-378	CLIP-seq
MIRT2442509	hsa-miR-378b	CLIP-seq
MIRT2442510	hsa-miR-378c	CLIP-seq
MIRT2442511	hsa-miR-378d	CLIP-seq
MIRT2442512	hsa-miR-378e	CLIP-seq
MIRT2442513	hsa-miR-378f	CLIP-seq
MIRT2442514	hsa-miR-378h	CLIP-seq
MIRT2442515	hsa-miR-378i	CLIP-seq
MIRT2442516	hsa-miR-3913-3p	CLIP-seq
MIRT2442517	hsa-miR-3922-5p	CLIP-seq
MIRT1259233	hsa-miR-3925-5p	CLIP-seq
MIRT2442518	hsa-miR-422a	CLIP-seq
MIRT2076391	hsa-miR-4259	CLIP-seq
MIRT2076392	hsa-miR-4266	CLIP-seq
MIRT1259206	hsa-miR-4286	CLIP-seq
MIRT2076393	hsa-miR-4425	CLIP-seq
MIRT2076394	hsa-miR-4446-3p	CLIP-seq
MIRT2442519	hsa-miR-4638-3p	CLIP-seq
MIRT1259207	hsa-miR-4639-3p	CLIP-seq
MIRT1259243	hsa-miR-4652-5p	CLIP-seq
MIRT2076396	hsa-miR-4656	CLIP-seq
MIRT2442520	hsa-miR-4686	CLIP-seq
MIRT2442521	hsa-miR-4717-5p	CLIP-seq
MIRT2076400	hsa-miR-4721	CLIP-seq
MIRT2076402	hsa-miR-4728-5p	CLIP-seq
MIRT2442522	hsa-miR-4753-5p	CLIP-seq
MIRT2442523	hsa-miR-489	CLIP-seq
MIRT2076405	hsa-miR-571	CLIP-seq
MIRT2442524	hsa-miR-593	CLIP-seq
MIRT1259208	hsa-miR-642a	CLIP-seq
MIRT2076408	hsa-miR-939	CLIP-seq
MIRT1259217	hsa-miR-191	CLIP-seq
MIRT1259204	hsa-miR-2114	CLIP-seq
MIRT1259223	hsa-miR-2964a-5p	CLIP-seq
MIRT1259225	hsa-miR-3117-5p	CLIP-seq
MIRT1259205	hsa-miR-3132	CLIP-seq
MIRT2442504	hsa-miR-3160-5p	CLIP-seq
MIRT2442505	hsa-miR-326	CLIP-seq
MIRT2442506	hsa-miR-330-5p	CLIP-seq
MIRT2442507	hsa-miR-3614-5p	CLIP-seq
MIRT2076388	hsa-miR-3689a-3p	CLIP-seq
MIRT2076389	hsa-miR-3689c	CLIP-seq
MIRT2442508	hsa-miR-378	CLIP-seq
MIRT2442509	hsa-miR-378b	CLIP-seq
MIRT2442510	hsa-miR-378c	CLIP-seq
MIRT2442511	hsa-miR-378d	CLIP-seq
MIRT2442512	hsa-miR-378e	CLIP-seq
MIRT2442513	hsa-miR-378f	CLIP-seq
MIRT2442514	hsa-miR-378h	CLIP-seq
MIRT2442515	hsa-miR-378i	CLIP-seq
MIRT2442516	hsa-miR-3913-3p	CLIP-seq
MIRT2442517	hsa-miR-3922-5p	CLIP-seq
MIRT2442518	hsa-miR-422a	CLIP-seq
MIRT2076391	hsa-miR-4259	CLIP-seq
MIRT2076392	hsa-miR-4266	CLIP-seq
MIRT1259206	hsa-miR-4286	CLIP-seq
MIRT2076393	hsa-miR-4425	CLIP-seq
MIRT2076394	hsa-miR-4446-3p	CLIP-seq
MIRT2442519	hsa-miR-4638-3p	CLIP-seq
MIRT1259207	hsa-miR-4639-3p	CLIP-seq
MIRT1259243	hsa-miR-4652-5p	CLIP-seq
MIRT2076396	hsa-miR-4656	CLIP-seq
MIRT2442520	hsa-miR-4686	CLIP-seq
MIRT2442521	hsa-miR-4717-5p	CLIP-seq
MIRT2076400	hsa-miR-4721	CLIP-seq
MIRT2076402	hsa-miR-4728-5p	CLIP-seq
MIRT2442522	hsa-miR-4753-5p	CLIP-seq
MIRT2442523	hsa-miR-489	CLIP-seq
MIRT2076405	hsa-miR-571	CLIP-seq
MIRT2442524	hsa-miR-593	CLIP-seq
MIRT1259208	hsa-miR-642a	CLIP-seq
MIRT2076408	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005764	Component	Lysosome	NAS	9341199
GO:0008474	Function	Palmitoyl-(protein) hydrolase activity	IEA
GO:0016790	Function	Thiolester hydrolase activity	IBA	21873635
GO:0016790	Function	Thiolester hydrolase activity	NAS	9341199
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0046949	Process	Fatty-acyl-CoA biosynthetic process	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098599	Function	Palmitoyl hydrolase activity	IDA	10417332
GO:0098599	Function	Palmitoyl hydrolase activity	TAS
GO:0098734	Process	Macromolecule depalmitoylation	IEA

Other IDs

• MIM: 603298
• HGNC: 9326
• e!Ensembl: ENSG00000221988

Protein

• UniProt ID: Q9UMR5
• Protein name: Lysosomal thioesterase PPT2 (PPT-2) (EC 3.1.2.2) (Palmitoyl-protein thioesterase 2) (S-thioesterase G14)
• Protein function: Catalyzes the cleavage of thioester bonds from S-palmitoyl-CoA or S-palmitoyl-N-acetylcysteamine (unbranched structures) but does not have activity against palmitoylcysteine or palmitoylated proteins, branched structures or bulky head groups. Co
• PDB: 1PJA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02089	Palm_thioest	38 → 283		Domain

• Tissue specificity: TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle. {ECO:0000269|PubMed:9341199}.
• Sequence:

  MLGLCGQRLPAAWVLLLLPFLPLLLLAAPAPHRASYKPVIVVHGLFDSSYSFRHLLEYIN
  ETHPGTVVTVLDLFDGRESLRPLWEQVQGFREAVVPIMAKAPQGVHLICYSQGGLVCRAL
  LSVMDDHNVDSFISLSSPQMGQYGDTDYLKWLFPTSMRSNLYRICYSPWGQEFSICNYWH
  DPHHDDLYLNASSFLALINGERDHPNATVWRKNFLRVGHLVLIGGPDDGVITPWQSSFFG
  FYDANETVLEMEEQLVYLRDSFGLKTLLARGAIVRCPMAGISHTAWHSNRTLYETCIEPW
  LS

• Sequence length: 302

Pathways

KEGG:

Fatty acid elongation
Metabolic pathways
Fatty acid metabolism
Lysosome

Reactome:

Fatty acyl-CoA biosynthesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17632545
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612	23955597
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	20598377
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	19503088, 17804836, 21156761

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS
Sarcoidosis	Sarcoidosis			GWAS
Psoriasis	Psoriasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Kidney Injury	Stimulate	17211844
Anemia Hemolytic	Stimulate	17211844
Emphysema	Associate	24383474
Kidney Diseases	Associate	17211844
Lung Diseases	Associate	20010835
Ovarian Neoplasms	Inhibit	39394143
Pulmonary Disease Chronic Obstructive	Associate	21659657