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
• 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: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

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Charcot-Marie-Tooth disease, demyelinating, type 1J	Pathogenic; Likely pathogenic	rs2533046082, rs1561875704	RCV002305677 RCV002305679	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITPR3-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrodermatitis	Dermatitis	CTD_human_DG	27258892		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31248019		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11032874	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35354048	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	31183746	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31557446		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28365690		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31095684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	31095684	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	37245337	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	28365690		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	11263617	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	32949214	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	20618519		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26393489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26393489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	26393489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20618519		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23681227		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	8115665		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15608674		★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	39270020	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	30737471	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28072864, 29069790, 29330143		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16006774, 28072864, 29630900	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35328381	Stimulate	★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33383780	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15608674		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28036301	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	7860772	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32811377	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	40165272	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	BEFREE	31247352		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28036301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	28036301		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31251815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31251815, 34798470	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	30141207		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	30141207	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24768714		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31683484		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30877106		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18364356, 35487218, 38294692	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31251815		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	9476544		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	20618519		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21971053		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	32949214	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	27258892	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15524175, 28333380		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35046894	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15524175, 28333380		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21270831	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16960798, 18340361, 20618519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	24768714		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	39270020	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	30950126		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36588538	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	38401086	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	20332427, 26439382, 27184076		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	34520633	Associate	★☆☆☆☆ Found in Text Mining only
Gianotti-Crosti Syndrome	Gianotti-Crosti Syndrome	CTD_human_DG	27258892		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	24603425	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	18614807		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35367758	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	20618519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASCAT_DG	21900946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASDB_DG	21900946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	39270020	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	7860772	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	9476544		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	11263617	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	30141207	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	40649881	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	11032874	Inhibit	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	19193873		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21210219		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28333380		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31683484		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30273839		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31315892		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25378392	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	34520633	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18219441, 20618519		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18219441		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18219441		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34798470	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11013462	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28072864, 29069790, 29330143		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25740420, 28614300		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	14666665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15608674		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24768714, 27068804, 27543313, 28614300, 29618618, 31251815		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	GWASDB_DG	20543847		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28036301		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28072864		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29568366		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	38294692	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	34520633	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31251815	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	39270020	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	20618519		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	26920376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	36232761	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple System Atrophy	Multiple system atrophy	Pubtator	39270020	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	23804750		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20395455		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	40442218	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14666665, 28614300		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27771899		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11032874, 12161107		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	11032874	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11032874		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29618618		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASCAT_DG	19553259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	19553259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29207009	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27771899		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25740420, 28614300		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37240163	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sepsis	Sepsis	Pubtator	30141207	Inhibit	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30141207		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	31597594	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	31874412	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26619122, 30737471	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	14666665		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	14666665		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31247352		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32690540	Associate	★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	26393489		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28036301	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	37245337	Associate	★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome 1	Wolfram Syndrome	BEFREE	27434582		★☆☆☆☆ Found in Text Mining only