ITPR3 (inositol 1,4,5-trisphosphate receptor type 3)

Gene

• Entrez ID: 3710
• Gene name: Inositol 1,4,5-trisphosphate receptor type 3
• Gene symbol: ITPR3
• Synonyms (NCBI Gene): CMT1J, IMD132, IMD133, IP3R, IP3R-3, IP3R3
• Disease Acronyms (UniProt): CMT1J
• Chromosome: 6
• Chromosome location: 6p21.31
• Summary: This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049194	hsa-miR-92a-3p	CLASH	23622248
MIRT048721	hsa-miR-96-5p	CLASH	23622248
MIRT046325	hsa-miR-23b-3p	CLASH	23622248
MIRT036993	hsa-miR-877-3p	CLASH	23622248
MIRT036459	hsa-miR-1226-3p	CLASH	23622248
MIRT1075102	hsa-miR-1207-3p	CLIP-seq
MIRT1075103	hsa-miR-1231	CLIP-seq
MIRT1075104	hsa-miR-1264	CLIP-seq
MIRT1075105	hsa-miR-1297	CLIP-seq
MIRT1075106	hsa-miR-1321	CLIP-seq
MIRT1075107	hsa-miR-2467-5p	CLIP-seq
MIRT1075108	hsa-miR-26a	CLIP-seq
MIRT1075109	hsa-miR-26b	CLIP-seq
MIRT1075110	hsa-miR-3064-5p	CLIP-seq
MIRT1075111	hsa-miR-3128	CLIP-seq
MIRT1075112	hsa-miR-3188	CLIP-seq
MIRT1075113	hsa-miR-3612	CLIP-seq
MIRT1075114	hsa-miR-3652	CLIP-seq
MIRT1075115	hsa-miR-3921	CLIP-seq
MIRT1075116	hsa-miR-3975	CLIP-seq
MIRT1075117	hsa-miR-4419a	CLIP-seq
MIRT1075118	hsa-miR-4430	CLIP-seq
MIRT1075119	hsa-miR-4435	CLIP-seq
MIRT1075120	hsa-miR-4443	CLIP-seq
MIRT1075121	hsa-miR-4465	CLIP-seq
MIRT1075122	hsa-miR-4477b	CLIP-seq
MIRT1075123	hsa-miR-4481	CLIP-seq
MIRT1075124	hsa-miR-4505	CLIP-seq
MIRT1075125	hsa-miR-4510	CLIP-seq
MIRT1075126	hsa-miR-4640-5p	CLIP-seq
MIRT1075127	hsa-miR-4649-3p	CLIP-seq
MIRT1075128	hsa-miR-4653-5p	CLIP-seq
MIRT1075129	hsa-miR-4720-5p	CLIP-seq
MIRT1075130	hsa-miR-4726-5p	CLIP-seq
MIRT1075131	hsa-miR-4728-5p	CLIP-seq
MIRT1075132	hsa-miR-4739	CLIP-seq
MIRT1075133	hsa-miR-4745-5p	CLIP-seq
MIRT1075134	hsa-miR-4756-5p	CLIP-seq
MIRT1075135	hsa-miR-4799-3p	CLIP-seq
MIRT1075136	hsa-miR-485-5p	CLIP-seq
MIRT1075137	hsa-miR-498	CLIP-seq
MIRT1075138	hsa-miR-548ag	CLIP-seq
MIRT1075139	hsa-miR-548ai	CLIP-seq
MIRT1075140	hsa-miR-548g	CLIP-seq
MIRT1075141	hsa-miR-650	CLIP-seq
MIRT1075142	hsa-miR-759	CLIP-seq
MIRT1550349	hsa-miR-4300	CLIP-seq
MIRT1550350	hsa-miR-920	CLIP-seq
MIRT2018611	hsa-miR-361-3p	CLIP-seq
MIRT1075122	hsa-miR-4477b	CLIP-seq
MIRT2018612	hsa-miR-4691-3p	CLIP-seq
MIRT2018613	hsa-miR-4715-3p	CLIP-seq
MIRT2018614	hsa-miR-494	CLIP-seq
MIRT2250466	hsa-miR-1266	CLIP-seq
MIRT2250467	hsa-miR-1294	CLIP-seq
MIRT2250468	hsa-miR-1972	CLIP-seq
MIRT2250469	hsa-miR-3120-3p	CLIP-seq
MIRT2250470	hsa-miR-3130-3p	CLIP-seq
MIRT2250471	hsa-miR-3168	CLIP-seq
MIRT2250472	hsa-miR-3622b-5p	CLIP-seq
MIRT2250473	hsa-miR-3664-3p	CLIP-seq
MIRT2250474	hsa-miR-3926	CLIP-seq
MIRT2250475	hsa-miR-4518	CLIP-seq
MIRT2250476	hsa-miR-4527	CLIP-seq
MIRT1075127	hsa-miR-4649-3p	CLIP-seq
MIRT2250477	hsa-miR-4650-5p	CLIP-seq
MIRT2250478	hsa-miR-4651	CLIP-seq
MIRT2250479	hsa-miR-4787-5p	CLIP-seq
MIRT2250480	hsa-miR-4793-3p	CLIP-seq
MIRT2250481	hsa-miR-4794	CLIP-seq
MIRT2250482	hsa-miR-548v	CLIP-seq
MIRT2250483	hsa-miR-608	CLIP-seq
MIRT2250484	hsa-miR-892b	CLIP-seq
MIRT2389522	hsa-miR-1343	CLIP-seq
MIRT2389523	hsa-miR-3192	CLIP-seq
MIRT1550349	hsa-miR-4300	CLIP-seq
MIRT2389524	hsa-miR-451b	CLIP-seq
MIRT2389525	hsa-miR-4736	CLIP-seq
MIRT1550350	hsa-miR-920	CLIP-seq
MIRT2452025	hsa-miR-1283	CLIP-seq
MIRT2452026	hsa-miR-142-3p	CLIP-seq
MIRT2452027	hsa-miR-3173-3p	CLIP-seq
MIRT2452028	hsa-miR-3198	CLIP-seq
MIRT2018611	hsa-miR-361-3p	CLIP-seq
MIRT2452029	hsa-miR-3936	CLIP-seq
MIRT2452030	hsa-miR-4286	CLIP-seq
MIRT2452031	hsa-miR-4309	CLIP-seq
MIRT2452032	hsa-miR-432	CLIP-seq
MIRT2452033	hsa-miR-4424	CLIP-seq
MIRT2452034	hsa-miR-4457	CLIP-seq
MIRT2452035	hsa-miR-4473	CLIP-seq
MIRT2452036	hsa-miR-4653-3p	CLIP-seq
MIRT2452037	hsa-miR-4698	CLIP-seq
MIRT2018613	hsa-miR-4715-3p	CLIP-seq
MIRT2452038	hsa-miR-4759	CLIP-seq
MIRT2452039	hsa-miR-512-3p	CLIP-seq
MIRT2452040	hsa-miR-520f	CLIP-seq
MIRT2452041	hsa-miR-606	CLIP-seq
MIRT2452042	hsa-miR-636	CLIP-seq
MIRT2452026	hsa-miR-142-3p	CLIP-seq
MIRT2018611	hsa-miR-361-3p	CLIP-seq
MIRT2452035	hsa-miR-4473	CLIP-seq
MIRT2452037	hsa-miR-4698	CLIP-seq
MIRT2018613	hsa-miR-4715-3p	CLIP-seq
MIRT2452039	hsa-miR-512-3p	CLIP-seq
MIRT2452040	hsa-miR-520f	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000822	Function	Inositol hexakisphosphate binding	ISS
GO:0005220	Function	Inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IBA	21873635
GO:0005220	Function	Inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IDA	10828023
GO:0005220	Function	Inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10611319, 19052258, 19553469, 21062895, 25996873, 28614305
GO:0005640	Component	Nuclear outer membrane	ISS
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	21062895
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	21062895
GO:0005887	Component	Integral component of plasma membrane	IDA	10828023
GO:0005903	Component	Brush border	ISS	8288584
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	ISS
GO:0007613	Process	Memory	IEA
GO:0015278	Function	Calcium-release channel activity	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016529	Component	Sarcoplasmic reticulum	IBA	21873635
GO:0030168	Process	Platelet activation	TAS
GO:0030659	Component	Cytoplasmic vesicle membrane	IBA	21873635
GO:0030667	Component	Secretory granule membrane	IBA	21873635
GO:0031095	Component	Platelet dense tubular network membrane	TAS
GO:0035091	Function	Phosphatidylinositol binding	IBA	21873635
GO:0043025	Component	Neuronal cell body	ISS
GO:0043209	Component	Myelin sheath	ISS
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043533	Function	Inositol 1,3,4,5 tetrakisphosphate binding	ISS
GO:0045177	Component	Apical part of cell	ISS	8288584
GO:0048016	Process	Inositol phosphate-mediated signaling	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0050913	Process	Sensory perception of bitter taste	IEA
GO:0050916	Process	Sensory perception of sweet taste	IEA
GO:0050917	Process	Sensory perception of umami taste	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA	21873635
GO:0051592	Process	Response to calcium ion	IDA	19052258
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060402	Process	Calcium ion transport into cytosol	ISS
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IBA	21873635
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IDA	8288584
GO:1903779	Process	Regulation of cardiac conduction	TAS

Other IDs

• MIM: 147267
• HGNC: 6182
• e!Ensembl: ENSG00000096433

Protein

• UniProt ID: Q14573
• Protein name: Inositol 1,4,5-trisphosphate-gated calcium channel ITPR3 (IP3 receptor isoform 3) (IP3R-3) (InsP3R3) (Type 3 inositol 1,4,5-trisphosphate receptor) (Type 3 InsP3 receptor)
• Protein function: Inositol 1,4,5-trisphosphate-gated calcium channel that, upon 1D-myo-inositol 1,4,5-trisphosphate binding, transports calcium from the endoplasmic reticulum lumen to cytoplasm, thus releasing the intracellular calcium and therefore participates
• PDB: 6DQJ, 6DQN, 6DQS, 6DQV, 6DQZ, 6DR0, 6DR2, 6DRA, 6DRC, 6UQK, 7T3P, 7T3Q, 7T3R, 7T3T, 7T3U, 8TK8, 8TKD, 8TKE, 8TKF, 8TKG, 8TKH, 8TKI, 8TL9, 8TLA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08709	Ins145_P3_rec	3 → 230	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
  PF02815	MIR	233 → 433	MIR domain	Domain
  PF01365	RYDR_ITPR	473 → 670	RIH domain	Family
  PF01365	RYDR_ITPR	1175 → 1334	RIH domain	Family
  PF08454	RIH_assoc	1865 → 1974	RyR and IP3R Homology associated	Family
  PF00520	Ion_trans	2206 → 2528	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in intestinal crypt and villus epithelial cells. {ECO:0000269|PubMed:8288584}.
• Sequence:

  MSEMSSFLHIGDIVSLYAEGSVNGFISTLGLVDDRCVVEPAAGDLDNPPKKFRDCLFKVC
  PMNRYSAQKQYWKAKQTKQDKEKIADVVLLQKLQHAAQMEQKQNDTENKKVHGDVVKYGS
  VIQLLHMKSNKYLTVNKRLPALLEKNAMRVTLDATGNEGSWLFIQPFWKLRSNGDNVVVG
  DKVILNPVNAGQPLHASNYELSDNAGCKEVNSVNCNTSWKINLFMQFRDHLEEVLKGGDV
  VRLFHAEQEKFLTCDEYKGKLQVFLRTTLRQSATSATSSNALWEVEVVHHDPCRGGAGHW
  NGLYRFKHLATGNYLAAEENPSYKGDASDPKAAGMGAQGRTGRRNAGEKIKYCLVAVPHG
  NDIASLFELDPTTLQKTDSFVPRNSYVRLRHLCTNTWIQSTNVPIDIEEERPIRLMLGTC
  PTKEDKEAFAIVSVPVSEIRDLDFANDASSMLASAVEKLNEGFISQNDRRFVIQLLEDLV
  FFVSDVPNNGQNVLDIMVTKPNRERQKLMREQNILKQVFGILKAPFREKGGEGPLVRLEE
  LSDQKNAPYQHMFRLCYRVLRHSQEDYRKNQEHIAKQFGMMQSQIGYDILAEDTITALLH
  NNRKLLEKHITKTEVETFVSLVRKNREPRFLDYLSDLCVSNHIAIPVTQELICKCVLDPK
  NSDILIRTELRPVKEMAQSHEYLSIEYSEEEVWLTWTDKNNEHHEKSVRQLAQEARAGNA
  HDENVLSYYRYQLKLFARMCLDRQYLAIDEISQQLGVDLIFLCMADEMLPFDLRASFCHL
  MLHVHVDRDPQELVTPVKFARLWTEIPTAITIKDYDSNLNASRDDKKNKFANTMEFVEDY
  LNNVVSEAVPFANEEKNKLTFEVVSLAHNLIYFGFYSFSELLRLTRTLLGIIDCVQGPPA
  MLQAYEDPGGKNVRRSIQGVGHMMSTMVLSRKQSVFSAPSLSAGASAAEPLDRSKFEENE
  DIVVMETKLKILEILQFILNVRLDYRISYLLSVFKKEFVEVFPMQDSGADGTAPAFDSTT
  ANMNLDRIGEQAEAMFGVGKTSSMLEVDDEGGRMFLRVLIHLTMHDYAPLVSGALQLLFK
  HFSQRQEAMHTFKQVQLLISAQDVENYKVIKSELDRLRTMVEKSELWVDKKGSGKGEEVE
  AGAAKDKKERPTDEEGFLHPPGEKSSENYQIVKGILERLNKMCGVGEQMRKKQQRLLKNM
  DAHKVMLDLLQIPYDKGDAKMMEILRYTHQFLQKFCAGNPGNQALLHKHLHLFLTPGLLE
  AETMQHIFLNNYQLCSEISEPVLQHFVHLLATHGRHVQYLDFLHTVIKAEGKYVKKCQDM
  IMTELTNAGDDVVVFYNDKASLAHLLDMMKAARDGVEDHSPLMYHISLVDLLAACAEGKN
  VYTEIKCTSLLPLEDVVSVVTHEDCITEVKMAYVNFVNHCYVDTEVEMKEIYTSNHIWTL
  FENFTLDMARVCSKREKRVADPTLEKYVLSVVLDTINAFFSSPFSENSTSLQTHQTIVVQ
  LLQSTTRLLECPWLQQQHKGSVEACIRTLAMVAKGRAILLPMDLDAHISSMLSSGASCAA
  AAQRNASSYKATTRAFPRVTPTANQWDYKNIIEKLQDIITALEERLKPLVQAELSVLVDV
  LHWPELLFLEGSEAYQRCESGGFLSKLIQHTKDLMESEEKLCIKVLRTLQQMLLKKTKYG
  DRGNQLRKMLLQNYLQNRKSTSRGDLPDPIGTGLDPDWSAIAATQCRLDKEGATKLVCDL
  ITSTKNEKIFQESIGLAIHLLDGGNTEIQKSFHNLMMSDKKSERFFKVLHDRMKRAQQET
  KSTVAVNMNDLGSQPHEDREPVDPTTKGRVASFSIPGSSSRYSLGPSLRRGHEVSERVQS
  SEMGTSVLIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDIMCGSTTG
  GLGLLGLYINEDNVGLVIQTLETLTEYCQGPCHENQTCIVTHESNGIDIITALILNDISP
  LCKYRMDLVLQLKDNASKLLLALMESRHDSENAERILISLRPQELVDVIKKAYLQEEERE
  NSEVSPREVGHNIYILALQLSRHNKQLQHLLKPVKRIQEEEAEGISSMLSLNNKQLSQML
  KSSAPAQEEEEDPLAYYENHTSQIEIVRQDRSMEQIVFPVPGICQFLTEETKHRLFTTTE
  QDEQGSKVSDFFDQSSFLHNEMEWQRKLRSMPLIYWFSRRMTLWGSISFNLAVFINIIIA
  FFYPYMEGASTGVLDSPLISLLFWILICFSIAALFTKRYSIRPLIVALILRSIYYLGIGP
  TLNILGALNLTNKIVFVVSFVGNRGTFIRGYKAMVMDMEFLYHVGYILTSVLGLFAHELF
  YSILLFDLIYREETLFNVIKSVTRNGRSILLTALLALILVYLFSIVGFLFLKDDFILEVD
  RLPNNHSTASPLGMPHGAAAFVDTCSGDKMDCVSGLSVPEVLEEDRELDSTERACDTLLM
  CIVTVMNHGLRNGGGVGDILRKPSKDESLFPARVVYDLLFFFIVIIIVLNLIFGVIIDTF
  ADLRSEKQKKEEILKTTCFICGLERDKFDNKTVSFEEHIKLEHNMWNYLYFIVLVRVKNK
  TDYTGPESYVAQMIKNKNLDWFPRMRAMSLVSNEGEGEQNEIRILQDKLNSTMKLVSHLT
  AQLNELKEQMTEQRKRRQRLGFVDVQNCISR

• Sequence length: 2671

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
Phosphatidylinositol signaling system
Oocyte meiosis
Apoptosis
Cellular senescence
Vascular smooth muscle contraction
Apelin signaling pathway
Osteoclast differentiation
Gap junction
Platelet activation
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
Dopaminergic synapse
Long-term depression
Taste transduction
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Estrogen signaling pathway
Thyroid hormone synthesis
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Cushing syndrome
Growth hormone synthesis, secretion and action
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Shigellosis
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Proteoglycans in cancer

Reactome:

Effects of PIP2 hydrolysis
Elevation of cytosolic Ca2+ levels
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Ion homeostasis
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019	31619474
Dermatitis	Acrodermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	27258892
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset	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
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	26920376
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	19553259
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	17804836, 19503088, 21156761

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma		31619474	ClinVar
Coronary heart disease	Coronary heart disease		21971053	ClinVar
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth disease, demyelinating, type 1J			GenCC
Eczema	Eczema			GWAS
Schizophrenia	Schizophrenia			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Insomnia	Insomnia			GWAS
Psoriasis	Psoriasis			GWAS
Sarcoidosis	Sarcoidosis			GWAS
Vitiligo	Vitiligo			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Inhibit	11032874
Alzheimer Disease	Associate	35354048
Ameloblastoma	Associate	31183746
Asthma	Associate	31095684
Asthma	Stimulate	37245337
Atrial Fibrillation	Associate	11263617
Atrophy	Associate	32949214
Autism Spectrum Disorder	Associate	26393489
Autistic Disorder	Associate	26393489
Bone Marrow Failure Disorders	Associate	39270020
Brain Neoplasms	Stimulate	30737471
Breast Neoplasms	Associate	16006774, 28072864, 29630900
Breast Neoplasms	Stimulate	35328381
Carcinogenesis	Associate	33383780
Carcinoma Non Small Cell Lung	Associate	33400994
Carcinoma Squamous Cell	Associate	28036301
Cardiomyopathy Hypertrophic	Associate	7860772
Carotid Stenosis	Associate	32811377
Celiac Disease	Associate	40165272
Charcot Marie Tooth Disease	Associate	32949214, 39270020
Charcot Marie Tooth disease Type 2B	Associate	32949214
Cholangiocarcinoma	Stimulate	31251815, 34798470
Cholestasis	Associate	30141207
Colorectal Neoplasms	Associate	18364356, 35487218, 38294692
Demyelinating Diseases	Associate	32949214
Dermatitis	Associate	27258892
Diabetes Gestational	Associate	35046894
Diabetes Mellitus Type 1	Associate	21270831
Disease	Associate	39270020
Drug Related Side Effects and Adverse Reactions	Stimulate	17049485
Drug Related Side Effects and Adverse Reactions	Associate	27841000, 35367758
Ectodermal Dysplasia	Associate	39270020
Esophageal Neoplasms	Associate	36588538
Esophageal Squamous Cell Carcinoma	Associate	38401086
Fatty Liver	Associate	34520633
Glaucoma Open Angle	Associate	24603425
Glioblastoma	Associate	35367758
Growth Disorders	Associate	39270020
Heart Failure	Associate	7860772
Heart Valve Diseases	Associate	11263617
Hepatitis Alcoholic	Inhibit	30141207
Hepatitis Alcoholic	Associate	40649881
Huntington Disease	Inhibit	11032874
Hypoxia Brain	Associate	35487218
Immunologic Deficiency Syndromes	Associate	39270020
Inflammation	Associate	34520633
Ischemia	Inhibit	11032874
Lipomatosis Multiple Symmetrical	Associate	32949214
Liver Diseases	Associate	25378392
Liver Failure Acute	Associate	34520633
Lymphatic Metastasis	Stimulate	34798470
Lymphoma	Associate	11013462
Lymphopenia	Associate	39270020
Mammary Neoplasms Animal	Associate	30042492
Melanoma	Associate	38294692
Metabolic Diseases	Associate	34520633
Minicore Myopathy Moderate with Hand Involvement	Associate	32949214
Mitochondrial Diseases	Stimulate	31251815
Mitochondrial Diseases	Associate	39270020
Multiple Sclerosis	Associate	36232761
Multiple System Atrophy	Associate	39270020
Muscle Neoplasms	Associate	32949214
Muscular Atrophy	Associate	32949214
Myelodysplastic Syndromes	Associate	40442218
Myocardial Stunning	Associate	7860772
N syndrome	Associate	34798470
Neoplasm Metastasis	Associate	37642055
Neoplasms	Associate	18364356, 25149175, 26619122, 28036301, 31183746, 33383780, 33400994, 36588538, 38401086
Neoplasms	Inhibit	28642246
Neoplasms	Stimulate	31251815, 35328381
Nerve Degeneration	Associate	11032874, 27080255
Neurodegenerative Diseases	Associate	11032874
Ovarian Neoplasms	Associate	29207009
Pre Eclampsia	Stimulate	25257609
Progeria	Associate	34298947
Prostatic Neoplasms	Associate	37240163
Retrograde Degeneration	Associate	35354048
Sepsis	Inhibit	30141207
Sjogren's Syndrome	Associate	31597594
Spastic Paraplegia Hereditary	Associate	31874412
Squamous Cell Carcinoma of Head and Neck	Associate	26619122, 30737471
Subarachnoid Hemorrhage	Associate	36214715
Triple Negative Breast Neoplasms	Associate	32690540
Uterine Cervical Neoplasms	Associate	28036301
Ventricular Remodeling	Associate	37245337