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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	573
Gene name	BAG cochaperone 1
Gene symbol	BAG1
Synonyms (NCBI Gene)	BAG-1HAPRAP46
Chromosome	9
Chromosome location	9p13.3
Summary	The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects

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Show/Hide all (304)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047188	hsa-miR-182-5p	CLASH	23622248
MIRT053755	hsa-miR-494-3p	FlowLuciferase reporter assayMicroarrayqRT-PCRWestern blot	24606447
MIRT054749	hsa-miR-28-5p	Luciferase reporter assayQRTPCRWestern blot	24843176
MIRT550024	hsa-miR-888-5p	PAR-CLIP	21572407
MIRT550023	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT550022	hsa-miR-6852-5p	PAR-CLIP	21572407
MIRT550021	hsa-miR-6742-3p	PAR-CLIP	21572407
MIRT550020	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT550019	hsa-miR-1343-3p	PAR-CLIP	21572407
MIRT550018	hsa-miR-6783-3p	PAR-CLIP	21572407
MIRT733929	hsa-miR-146b-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blotting	33084403
MIRT736919	hsa-miR-342-3p	Western blottingMicroarrayRNA-seqImmunofluorescenceqRT-PCRFlow cytometry	32488063
MIRT550024	hsa-miR-888-5p	PAR-CLIP	21572407
MIRT550023	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT550022	hsa-miR-6852-5p	PAR-CLIP	21572407
MIRT550021	hsa-miR-6742-3p	PAR-CLIP	21572407
MIRT550020	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT550019	hsa-miR-1343-3p	PAR-CLIP	21572407
MIRT550018	hsa-miR-6783-3p	PAR-CLIP	21572407
MIRT814417	hsa-let-7a	CLIP-seq
MIRT814418	hsa-let-7b	CLIP-seq
MIRT814419	hsa-let-7c	CLIP-seq
MIRT814420	hsa-let-7d	CLIP-seq
MIRT814421	hsa-let-7e	CLIP-seq
MIRT814422	hsa-let-7f	CLIP-seq
MIRT814423	hsa-let-7g	CLIP-seq
MIRT814424	hsa-let-7i	CLIP-seq
MIRT814425	hsa-miR-1207-3p	CLIP-seq
MIRT814426	hsa-miR-1224-5p	CLIP-seq
MIRT814427	hsa-miR-1226	CLIP-seq
MIRT814428	hsa-miR-1229	CLIP-seq
MIRT814429	hsa-miR-1252	CLIP-seq
MIRT814430	hsa-miR-1307	CLIP-seq
MIRT814431	hsa-miR-148a	CLIP-seq
MIRT814432	hsa-miR-148b	CLIP-seq
MIRT814433	hsa-miR-152	CLIP-seq
MIRT814434	hsa-miR-1909	CLIP-seq
MIRT814435	hsa-miR-1912	CLIP-seq
MIRT814436	hsa-miR-193a-5p	CLIP-seq
MIRT814437	hsa-miR-196a	CLIP-seq
MIRT814438	hsa-miR-196b	CLIP-seq
MIRT814439	hsa-miR-216a	CLIP-seq
MIRT814440	hsa-miR-216b	CLIP-seq
MIRT814441	hsa-miR-2467-3p	CLIP-seq
MIRT814442	hsa-miR-296-3p	CLIP-seq
MIRT814443	hsa-miR-300	CLIP-seq
MIRT814444	hsa-miR-3120-3p	CLIP-seq
MIRT814445	hsa-miR-3139	CLIP-seq
MIRT814446	hsa-miR-3150b-3p	CLIP-seq
MIRT814447	hsa-miR-3153	CLIP-seq
MIRT814448	hsa-miR-3200-5p	CLIP-seq
MIRT814449	hsa-miR-361-3p	CLIP-seq
MIRT814450	hsa-miR-3647-3p	CLIP-seq
MIRT814451	hsa-miR-3667-5p	CLIP-seq
MIRT814452	hsa-miR-371-5p	CLIP-seq
MIRT814453	hsa-miR-381	CLIP-seq
MIRT814454	hsa-miR-4257	CLIP-seq
MIRT814455	hsa-miR-4282	CLIP-seq
MIRT814456	hsa-miR-4284	CLIP-seq
MIRT814457	hsa-miR-431	CLIP-seq
MIRT814458	hsa-miR-4423-5p	CLIP-seq
MIRT814459	hsa-miR-4443	CLIP-seq
MIRT814460	hsa-miR-4458	CLIP-seq
MIRT814461	hsa-miR-4476	CLIP-seq
MIRT814462	hsa-miR-4500	CLIP-seq
MIRT814463	hsa-miR-4514	CLIP-seq
MIRT814464	hsa-miR-4533	CLIP-seq
MIRT814465	hsa-miR-4638-5p	CLIP-seq
MIRT814466	hsa-miR-4645-5p	CLIP-seq
MIRT814467	hsa-miR-4646-5p	CLIP-seq
MIRT814468	hsa-miR-4649-3p	CLIP-seq
MIRT814469	hsa-miR-4666-3p	CLIP-seq
MIRT814470	hsa-miR-4668-5p	CLIP-seq
MIRT814471	hsa-miR-4673	CLIP-seq
MIRT814472	hsa-miR-4689	CLIP-seq
MIRT814473	hsa-miR-4690-3p	CLIP-seq
MIRT814474	hsa-miR-4690-5p	CLIP-seq
MIRT814475	hsa-miR-4692	CLIP-seq
MIRT814476	hsa-miR-4710	CLIP-seq
MIRT814477	hsa-miR-4722-5p	CLIP-seq
MIRT814478	hsa-miR-4733-3p	CLIP-seq
MIRT814479	hsa-miR-4751	CLIP-seq
MIRT814480	hsa-miR-4768-3p	CLIP-seq
MIRT814481	hsa-miR-4781-3p	CLIP-seq
MIRT814482	hsa-miR-4784	CLIP-seq
MIRT814483	hsa-miR-498	CLIP-seq
MIRT814484	hsa-miR-585	CLIP-seq
MIRT814485	hsa-miR-624	CLIP-seq
MIRT814486	hsa-miR-708	CLIP-seq
MIRT814487	hsa-miR-765	CLIP-seq
MIRT814488	hsa-miR-888	CLIP-seq
MIRT814489	hsa-miR-940	CLIP-seq
MIRT814490	hsa-miR-98	CLIP-seq
MIRT814417	hsa-let-7a	CLIP-seq
MIRT814418	hsa-let-7b	CLIP-seq
MIRT814419	hsa-let-7c	CLIP-seq
MIRT814420	hsa-let-7d	CLIP-seq
MIRT814421	hsa-let-7e	CLIP-seq
MIRT814422	hsa-let-7f	CLIP-seq
MIRT814423	hsa-let-7g	CLIP-seq
MIRT814424	hsa-let-7i	CLIP-seq
MIRT814491	hsa-miR-122	CLIP-seq
MIRT814492	hsa-miR-1245	CLIP-seq
MIRT814429	hsa-miR-1252	CLIP-seq
MIRT814493	hsa-miR-1273f	CLIP-seq
MIRT814494	hsa-miR-1303	CLIP-seq
MIRT814495	hsa-miR-149	CLIP-seq
MIRT814496	hsa-miR-150	CLIP-seq
MIRT814497	hsa-miR-1587	CLIP-seq
MIRT814498	hsa-miR-182	CLIP-seq
MIRT814434	hsa-miR-1909	CLIP-seq
MIRT814436	hsa-miR-193a-5p	CLIP-seq
MIRT814437	hsa-miR-196a	CLIP-seq
MIRT814438	hsa-miR-196b	CLIP-seq
MIRT814441	hsa-miR-2467-3p	CLIP-seq
MIRT814442	hsa-miR-296-3p	CLIP-seq
MIRT814443	hsa-miR-300	CLIP-seq
MIRT814499	hsa-miR-31	CLIP-seq
MIRT814500	hsa-miR-3135b	CLIP-seq
MIRT814445	hsa-miR-3139	CLIP-seq
MIRT814446	hsa-miR-3150b-3p	CLIP-seq
MIRT814501	hsa-miR-3176	CLIP-seq
MIRT814502	hsa-miR-331-3p	CLIP-seq
MIRT814449	hsa-miR-361-3p	CLIP-seq
MIRT814450	hsa-miR-3647-3p	CLIP-seq
MIRT814503	hsa-miR-3652	CLIP-seq
MIRT814504	hsa-miR-3663-5p	CLIP-seq
MIRT814451	hsa-miR-3667-5p	CLIP-seq
MIRT814452	hsa-miR-371-5p	CLIP-seq
MIRT814505	hsa-miR-371b-5p	CLIP-seq
MIRT814506	hsa-miR-378g	CLIP-seq
MIRT814453	hsa-miR-381	CLIP-seq
MIRT814507	hsa-miR-3922-3p	CLIP-seq
MIRT814508	hsa-miR-3944-3p	CLIP-seq
MIRT814454	hsa-miR-4257	CLIP-seq
MIRT814457	hsa-miR-431	CLIP-seq
MIRT814509	hsa-miR-4313	CLIP-seq
MIRT814510	hsa-miR-4325	CLIP-seq
MIRT814511	hsa-miR-433	CLIP-seq
MIRT814458	hsa-miR-4423-5p	CLIP-seq
MIRT814512	hsa-miR-4430	CLIP-seq
MIRT814513	hsa-miR-4435	CLIP-seq
MIRT814459	hsa-miR-4443	CLIP-seq
MIRT814514	hsa-miR-4454	CLIP-seq
MIRT814460	hsa-miR-4458	CLIP-seq
MIRT814515	hsa-miR-4470	CLIP-seq
MIRT814516	hsa-miR-4474-3p	CLIP-seq
MIRT814461	hsa-miR-4476	CLIP-seq
MIRT814517	hsa-miR-4492	CLIP-seq
MIRT814518	hsa-miR-4496	CLIP-seq
MIRT814519	hsa-miR-4498	CLIP-seq
MIRT814462	hsa-miR-4500	CLIP-seq
MIRT814463	hsa-miR-4514	CLIP-seq
MIRT814464	hsa-miR-4533	CLIP-seq
MIRT814466	hsa-miR-4645-5p	CLIP-seq
MIRT814520	hsa-miR-4656	CLIP-seq
MIRT814469	hsa-miR-4666-3p	CLIP-seq
MIRT814470	hsa-miR-4668-5p	CLIP-seq
MIRT814471	hsa-miR-4673	CLIP-seq
MIRT814521	hsa-miR-4675	CLIP-seq
MIRT814472	hsa-miR-4689	CLIP-seq
MIRT814474	hsa-miR-4690-5p	CLIP-seq
MIRT814475	hsa-miR-4692	CLIP-seq
MIRT814522	hsa-miR-4693-3p	CLIP-seq
MIRT814523	hsa-miR-4707-3p	CLIP-seq
MIRT814476	hsa-miR-4710	CLIP-seq
MIRT814477	hsa-miR-4722-5p	CLIP-seq
MIRT814524	hsa-miR-4741	CLIP-seq
MIRT814525	hsa-miR-4757-5p	CLIP-seq
MIRT814526	hsa-miR-4766-5p	CLIP-seq
MIRT814480	hsa-miR-4768-3p	CLIP-seq
MIRT814527	hsa-miR-4774-5p	CLIP-seq
MIRT814481	hsa-miR-4781-3p	CLIP-seq
MIRT814482	hsa-miR-4784	CLIP-seq
MIRT814483	hsa-miR-498	CLIP-seq
MIRT814528	hsa-miR-507	CLIP-seq
MIRT814529	hsa-miR-557	CLIP-seq
MIRT814484	hsa-miR-585	CLIP-seq
MIRT814530	hsa-miR-590-3p	CLIP-seq
MIRT814531	hsa-miR-615-5p	CLIP-seq
MIRT814485	hsa-miR-624	CLIP-seq
MIRT814532	hsa-miR-661	CLIP-seq
MIRT814486	hsa-miR-708	CLIP-seq
MIRT814533	hsa-miR-760	CLIP-seq
MIRT814534	hsa-miR-762	CLIP-seq
MIRT814487	hsa-miR-765	CLIP-seq
MIRT814535	hsa-miR-892b	CLIP-seq
MIRT814489	hsa-miR-940	CLIP-seq
MIRT814490	hsa-miR-98	CLIP-seq
MIRT1921530	hsa-miR-4422	CLIP-seq
MIRT814441	hsa-miR-2467-3p	CLIP-seq
MIRT814426	hsa-miR-1224-5p	CLIP-seq
MIRT814429	hsa-miR-1252	CLIP-seq
MIRT814501	hsa-miR-3176	CLIP-seq
MIRT814450	hsa-miR-3647-3p	CLIP-seq
MIRT814507	hsa-miR-3922-3p	CLIP-seq
MIRT814455	hsa-miR-4282	CLIP-seq
MIRT1940790	hsa-miR-4461	CLIP-seq
MIRT814476	hsa-miR-4710	CLIP-seq
MIRT814417	hsa-let-7a	CLIP-seq
MIRT814418	hsa-let-7b	CLIP-seq
MIRT814419	hsa-let-7c	CLIP-seq
MIRT814420	hsa-let-7d	CLIP-seq
MIRT814421	hsa-let-7e	CLIP-seq
MIRT814422	hsa-let-7f	CLIP-seq
MIRT814423	hsa-let-7g	CLIP-seq
MIRT814424	hsa-let-7i	CLIP-seq
MIRT814491	hsa-miR-122	CLIP-seq
MIRT814492	hsa-miR-1245	CLIP-seq
MIRT814429	hsa-miR-1252	CLIP-seq
MIRT2179797	hsa-miR-1284	CLIP-seq
MIRT814430	hsa-miR-1307	CLIP-seq
MIRT2179798	hsa-miR-146a	CLIP-seq
MIRT814496	hsa-miR-150	CLIP-seq
MIRT814434	hsa-miR-1909	CLIP-seq
MIRT814437	hsa-miR-196a	CLIP-seq
MIRT814438	hsa-miR-196b	CLIP-seq
MIRT2179799	hsa-miR-199a-5p	CLIP-seq
MIRT2179800	hsa-miR-199b-5p	CLIP-seq
MIRT814439	hsa-miR-216a	CLIP-seq
MIRT814440	hsa-miR-216b	CLIP-seq
MIRT814441	hsa-miR-2467-3p	CLIP-seq
MIRT814442	hsa-miR-296-3p	CLIP-seq
MIRT814443	hsa-miR-300	CLIP-seq
MIRT2179801	hsa-miR-3117-5p	CLIP-seq
MIRT814444	hsa-miR-3120-3p	CLIP-seq
MIRT814500	hsa-miR-3135b	CLIP-seq
MIRT814445	hsa-miR-3139	CLIP-seq
MIRT814446	hsa-miR-3150b-3p	CLIP-seq
MIRT814501	hsa-miR-3176	CLIP-seq
MIRT2179802	hsa-miR-3184	CLIP-seq
MIRT2179803	hsa-miR-3199	CLIP-seq
MIRT814503	hsa-miR-3652	CLIP-seq
MIRT2179804	hsa-miR-3664-5p	CLIP-seq
MIRT814452	hsa-miR-371-5p	CLIP-seq
MIRT814505	hsa-miR-371b-5p	CLIP-seq
MIRT2179805	hsa-miR-376c	CLIP-seq
MIRT814453	hsa-miR-381	CLIP-seq
MIRT814507	hsa-miR-3922-3p	CLIP-seq
MIRT2179806	hsa-miR-423-5p	CLIP-seq
MIRT814454	hsa-miR-4257	CLIP-seq
MIRT2179807	hsa-miR-4261	CLIP-seq
MIRT814456	hsa-miR-4284	CLIP-seq
MIRT2179808	hsa-miR-4299	CLIP-seq
MIRT2179809	hsa-miR-4302	CLIP-seq
MIRT814458	hsa-miR-4423-5p	CLIP-seq
MIRT814512	hsa-miR-4430	CLIP-seq
MIRT814459	hsa-miR-4443	CLIP-seq
MIRT814514	hsa-miR-4454	CLIP-seq
MIRT814460	hsa-miR-4458	CLIP-seq
MIRT1940790	hsa-miR-4461	CLIP-seq
MIRT814461	hsa-miR-4476	CLIP-seq
MIRT814517	hsa-miR-4492	CLIP-seq
MIRT814519	hsa-miR-4498	CLIP-seq
MIRT814462	hsa-miR-4500	CLIP-seq
MIRT814464	hsa-miR-4533	CLIP-seq
MIRT814465	hsa-miR-4638-5p	CLIP-seq
MIRT814469	hsa-miR-4666-3p	CLIP-seq
MIRT2179810	hsa-miR-4677-3p	CLIP-seq
MIRT2179811	hsa-miR-4679	CLIP-seq
MIRT814472	hsa-miR-4689	CLIP-seq
MIRT814522	hsa-miR-4693-3p	CLIP-seq
MIRT2179812	hsa-miR-4696	CLIP-seq
MIRT2179813	hsa-miR-4698	CLIP-seq
MIRT814523	hsa-miR-4707-3p	CLIP-seq
MIRT814476	hsa-miR-4710	CLIP-seq
MIRT2179814	hsa-miR-4719	CLIP-seq
MIRT814525	hsa-miR-4757-5p	CLIP-seq
MIRT814481	hsa-miR-4781-3p	CLIP-seq
MIRT814482	hsa-miR-4784	CLIP-seq
MIRT2179815	hsa-miR-494	CLIP-seq
MIRT814483	hsa-miR-498	CLIP-seq
MIRT2179816	hsa-miR-580	CLIP-seq
MIRT814484	hsa-miR-585	CLIP-seq
MIRT2179817	hsa-miR-589	CLIP-seq
MIRT814485	hsa-miR-624	CLIP-seq
MIRT814486	hsa-miR-708	CLIP-seq
MIRT814534	hsa-miR-762	CLIP-seq
MIRT814487	hsa-miR-765	CLIP-seq
MIRT814488	hsa-miR-888	CLIP-seq
MIRT814490	hsa-miR-98	CLIP-seq
MIRT2675851	hsa-miR-1827	CLIP-seq
MIRT2675852	hsa-miR-186	CLIP-seq
MIRT2675853	hsa-miR-2278	CLIP-seq
MIRT814499	hsa-miR-31	CLIP-seq
MIRT2675854	hsa-miR-3125	CLIP-seq
MIRT2675855	hsa-miR-3133	CLIP-seq
MIRT2675856	hsa-miR-3646	CLIP-seq
MIRT2675857	hsa-miR-3662	CLIP-seq
MIRT2675858	hsa-miR-3916	CLIP-seq
MIRT814508	hsa-miR-3944-3p	CLIP-seq
MIRT2675859	hsa-miR-4300	CLIP-seq
MIRT814510	hsa-miR-4325	CLIP-seq
MIRT814511	hsa-miR-433	CLIP-seq
MIRT2675860	hsa-miR-4419a	CLIP-seq
MIRT2675861	hsa-miR-4468	CLIP-seq
MIRT2675862	hsa-miR-4509	CLIP-seq
MIRT2675863	hsa-miR-4510	CLIP-seq
MIRT2675864	hsa-miR-4633-3p	CLIP-seq
MIRT2675865	hsa-miR-4744	CLIP-seq
MIRT2675866	hsa-miR-4795-5p	CLIP-seq
MIRT814528	hsa-miR-507	CLIP-seq
MIRT814529	hsa-miR-557	CLIP-seq
MIRT2675867	hsa-miR-920	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
CTCFL	Activation	18413740
DNMT1	Unknown	18413740

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000774	Function	Adenyl-nucleotide exchange factor activity	IBA
GO:0000774	Function	Adenyl-nucleotide exchange factor activity	IDA	24318877
GO:0005515	Function	Protein binding	IPI	9305631, 19060904, 19800331, 24318877, 25036637, 25416956, 26871637, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9679980
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	8947043
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006457	Process	Protein folding	IDA	12853476
GO:0006915	Process	Apoptotic process	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	8947043
GO:0016020	Component	Membrane	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16207813
GO:0034393	Process	Positive regulation of smooth muscle cell apoptotic process	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	TAS	8947043
GO:0050821	Process	Protein stabilization	IBA
GO:0051087	Function	Protein-folding chaperone binding	IBA
GO:0051087	Function	Protein-folding chaperone binding	IEA

MIM	HGNC	e!Ensembl
601497	937	ENSG00000107262

Q99933

Protein name

BAG family molecular chaperone regulator 1 (BAG-1) (Bcl-2-associated athanogene 1)

Protein function

Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated vi

PDB

1HX1 , 1WXV , 3FZF , 3FZH , 3FZK , 3FZL , 3FZM , 3LDQ , 3M3Z , 5AQF , 5AQG , 5AQH , 5AQI , 5AQJ , 5AQK , 5AQL , 5AQM , 5AQN , 5AQO , 5AQP , 5AQQ , 5AQR , 5AQS , 5AQT , 5AQU , 5AQV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00240	ubiquitin	144 → 222	Ubiquitin family	Domain
PF02179	BAG	227 → 325	BAG domain	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 4 is the most abundantly expressed isoform. It is ubiquitously expressed throughout most tissues, except the liver, colon, breast and uterine myometrium. Isoform 1 is expressed in the ovary and testis. Isoform 4 is expressed in

Sequence

MAQRGGARRPRGDRERLGSRLRALRPGREPRQSEPPAQRGPPPSGRPPARSTASGHDRPT
RGAAAGARRPRMKKKTRRRSTRSEELTRSEELTLSEEATWSEEATQSEEATQGEEMNRSQ
EVTRDEESTRSEEVTREEMAAAGLTVTVTHSNEKHDLHVTSQQGSSEPVVQDLAQVVEEV
IGVPQSFQKLIFKGKSLKEMETPLSALGIQDGCRVMLIGKKNSPQEEVELKKLKHLEKSV
EKIADQLEELNKELTGIQQGFLPKDLQAEALCKLDRRVKATIEQFMKILEEIDTLILPEN
FKDSRLKRKGLVKKVQAFLAECDTVEQNICQETERLQSTNFALAE

Sequence length

345

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		Regulation of HSF1-mediated heat shock response

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)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, DUCTAL, BREAST	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (121)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	22939115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20404511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12845674, 15994756, 16042572, 21963853, 23023342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	12845674, 18204076, 23059827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18955116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25912394, 28589496		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19407332, 29286112, 31802907		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	10520003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15872096, 24345775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15872096, 18466881, 18562287, 19407332, 24345775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	24345775	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	18466881, 23032943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10576663, 10732784, 11912172, 12081204, 12373595, 12874020, 12902980, 15026618, 15168338, 15474970, 18288403, 19066611, 19151744, 19800331, 19881545 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19066611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10576663, 18430249, 19066611, 19151744, 19800331, 24557447, 31883527, 34428256, 34995286, 9497101	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	24843176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Head	Neoplasm of head	BEFREE	22939115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17549665	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18704778, 23059827, 23108401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17503439, 18204076, 20096920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	19066611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20404511, 31802907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29099775, 31626592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33581726	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21522149, 22454210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10047462		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	10047462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	30669930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10520003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24876225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20409521, 24061638, 26717967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17657847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18523358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18204076, 21809033, 21963853, 26846101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12402153, 18204076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12402153, 21809033, 23059827, 23108401, 24061638, 31504805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31504805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29986884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	29986884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	18562287		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21036726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	18704778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	18704778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	21195059, 25069471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	21195059, 25069471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	21157029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25962180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	20096920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10764042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10764042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28424902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19712056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	34428256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	19066611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	CTD_human_DG	19066611		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22016818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22016818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34210682	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22016818, 25461257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22016818, 25461257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	17549665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	39366981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23553841, 28440552, 30282074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20404511, 23977152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	28120479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17657847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33581726	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	10764042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10576663, 10732784, 11912172, 12081204, 12373595, 12874020, 12902980, 15026618, 15168338, 15199607, 15474970, 18288403, 19066611, 19151744, 19800331 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19066611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21036726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	21195059, 25069471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30282074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20404511, 31802907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22939115, 31358530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16482527, 18288403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29507878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10359530, 29568970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	17549665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12373595, 15026618, 15033003, 18204076, 18804403, 19066611, 20096920, 21986497, 22939115, 23108401, 23553841, 23983126, 28510570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10047462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20409521, 24061638, 26717967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19066611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Ductal Carcinoma	Marfan Syndrome	CTD_human_DG	19066611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12874020, 18430249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19066611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20969773, 26958811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19066611		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29507878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30622661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	18562287		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	11912172, 12081204, 15199607, 16482527, 17503439, 18204076, 21036726, 21522149, 21963853, 23108401, 23852223, 26271008, 26846101, 29404549, 29507878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15026618, 21971866, 22179630, 22439756, 26124006, 28892778, 31802907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	19881545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	19786960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19151744, 30747221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19546472	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23059827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22939115, 31358530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22571429, 25106480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	23023342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16482527, 18288403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16482527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23661456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	19786960, 23032943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	24345775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12845674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	19786960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11972448, 16081509, 16687441, 18282690, 19786960, 24345775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24345775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24345775	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	18430249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18804403, 21522149, 22454210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	21195059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28877725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28877725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10359530, 29568970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	17549665	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22454210, 28682441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	26124006		★★★★★ ★☆☆☆☆ Found in Text Mining only

BAG1 (BAG cochaperone 1)