Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3710
Gene name	Inositol 1,4,5-trisphosphate receptor type 3
Gene symbol	ITPR3
Synonyms (NCBI Gene)	CMT1JIMD132IMD133IP3RIP3R-3IP3R3
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

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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

Show/Hide all (71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000822	Function	Inositol hexakisphosphate binding	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IBA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IDA	10828023, 30013099, 37898605
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IEA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	ISS
GO:0005262	Function	Calcium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	37898605
GO:0005515	Function	Protein binding	IPI	10611319, 19052258, 19553469, 21062895, 25996873, 28614305
GO:0005524	Function	ATP binding	IDA	37898605
GO:0005634	Component	Nucleus	IEA
GO:0005640	Component	Nuclear outer membrane	ISS
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	21062895
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10828023, 21062895
GO:0005903	Component	Brush border	ISS	8288584
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
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:0008270	Function	Zinc ion binding	IDA	37898605
GO:0015278	Function	Intracellularly gated calcium channel activity	IEA
GO:0015278	Function	Intracellularly gated calcium channel activity	ISS
GO:0015278	Function	Intracellularly gated calcium channel activity	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030168	Process	Platelet activation	IDA	10828023
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IBA
GO:0031095	Component	Platelet dense tubular network membrane	IEA
GO:0031095	Component	Platelet dense tubular network membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035091	Function	Phosphatidylinositol binding	IBA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0043025	Component	Neuronal cell body	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:0050909	Process	Sensory perception of taste	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
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	32949214
GO:0051289	Process	Protein homotetramerization	IDA	37898605
GO:0051592	Process	Response to calcium ion	IDA	19052258
GO:0055074	Process	Calcium ion homeostasis	IMP	32949214
GO:0055085	Process	Transmembrane transport	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IBA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IDA	8288584
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IEA
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IEA
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	ISS

MIM	HGNC	e!Ensembl
147267	6182	ENSG00000096433

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

Interactions

View interactions

	KEGG		Reactome
	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		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

114

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease, demyelinating, type 1J	Pathogenic; Likely pathogenic	rs2533046082, rs1561875704	RCV002305677 RCV002305679

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs116454384	RCV005915487
Cervical cancer	Likely benign; Benign	rs202199707, rs9469543	RCV005904399 RCV005910634
Cholangiocarcinoma	Benign	rs116454384	RCV005915491
Familial cancer of breast	Benign	rs150616390	RCV005910727
Familial pancreatic carcinoma	Benign	rs9469543	RCV005910635
Hepatocellular carcinoma	Benign	rs4640882	RCV005915901
Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Benign; Conflicting classifications of pathogenicity	rs12528378, rs2533186607	RCV005603728 RCV005603764
ITPR3-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs4713654, rs11967839, rs17526232, rs1803831, rs2229642, rs2229631, rs2229637, rs2274199, rs2229634, rs9469554, rs2296331, rs12528378, rs942636, rs35506178, rs2533186607 View all (64 more)	RCV003980672 RCV003980754 RCV003941052 RCV003980847 RCV003975818 RCV003984044 RCV003975878 RCV003976079 RCV003984080 RCV003976080 RCV003976081 RCV003913334 RCV003976082 RCV003913344 RCV003408224 RCV003929154 RCV003929155 RCV003929156 RCV003919205 RCV003929157 RCV003929158 RCV003894740 RCV003919763 RCV003964570 RCV003901914 RCV003911803 RCV003977264 RCV003977347 RCV003984531 RCV003911907 RCV003941853 RCV003944093 RCV003944187 RCV003944539 RCV003959622 RCV003947411 RCV003964216 RCV003917117 RCV003919395 RCV003914768 RCV003929556 RCV003934677 RCV003947127 RCV003959046 RCV003971399 RCV003942177 RCV003954506 RCV003979318 RCV003971693 RCV003969694 RCV003972243 RCV003976413 RCV003925997 RCV003943002 RCV003913284 RCV003925912 RCV003926136 RCV003935991 RCV003916034 RCV003978386 RCV003936192 RCV003936093 RCV003920654 RCV003948306 RCV003920790 RCV003895440 RCV003975620 RCV003950390 RCV003968105 RCV003940501 RCV003912862 RCV003910694 RCV003950612 RCV003958114 RCV003912971 RCV003932954 RCV003923088 RCV003960415 RCV003978004 RCV003953334
Malignant lymphoma, large B-cell, diffuse	Benign	rs2274197, rs116454384, rs2296336	RCV005914835 RCV005915489 RCV005916941
Ovarian serous cystadenocarcinoma	Benign	rs2229641	RCV005905979
Uterine carcinosarcoma	Benign	rs2274197, rs116454384, rs9469543	RCV005914836 RCV005915490 RCV005910636
Uterine corpus endometrial carcinoma	Likely benign	rs202199707	RCV005904400
Uveal melanoma	Benign	rs116454384	RCV005915488

Show/Hide Text Mining Associations (85)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

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