BID (BH3 interacting domain death agonist)

Gene

• Entrez ID: 637
• Gene name: BH3 interacting domain death agonist
• Gene symbol: BID
• Synonyms (NCBI Gene): FP497
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2, and thus regulate apoptosis. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006072	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006072	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006072	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT049655	hsa-miR-92a-3p	CLASH	23622248
MIRT045661	hsa-miR-149-5p	CLASH	23622248
MIRT626406	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT647841	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT647840	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT626405	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT626404	hsa-miR-623	HITS-CLIP	23824327
MIRT626403	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT626402	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT626401	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT626400	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT626399	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT626398	hsa-miR-507	HITS-CLIP	23824327
MIRT626397	hsa-miR-557	HITS-CLIP	23824327
MIRT626396	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT626395	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT626406	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT626405	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT626404	hsa-miR-623	HITS-CLIP	23824327
MIRT626403	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT626402	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT626401	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT626400	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT626399	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT626398	hsa-miR-507	HITS-CLIP	23824327
MIRT626397	hsa-miR-557	HITS-CLIP	23824327
MIRT626396	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT626395	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT626406	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT626405	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT626404	hsa-miR-623	HITS-CLIP	23824327
MIRT626403	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT626402	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT626401	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT626400	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT626399	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT626398	hsa-miR-507	HITS-CLIP	23824327
MIRT626397	hsa-miR-557	HITS-CLIP	23824327
MIRT626396	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT626395	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT728203	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT728202	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT626406	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT647841	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT647840	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT626405	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT626404	hsa-miR-623	HITS-CLIP	23824327
MIRT626403	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT626402	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT626401	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT626400	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT626399	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT626398	hsa-miR-507	HITS-CLIP	23824327
MIRT626397	hsa-miR-557	HITS-CLIP	23824327
MIRT626396	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT626395	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT626406	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT626405	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT626404	hsa-miR-623	HITS-CLIP	23824327
MIRT626403	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT626402	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT626401	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT626400	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT626399	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT626398	hsa-miR-507	HITS-CLIP	23824327
MIRT626397	hsa-miR-557	HITS-CLIP	23824327
MIRT626396	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT626395	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT626406	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT626405	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT626404	hsa-miR-623	HITS-CLIP	23824327
MIRT626403	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT626402	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT626401	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT626400	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT626399	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT626398	hsa-miR-507	HITS-CLIP	23824327
MIRT626397	hsa-miR-557	HITS-CLIP	23824327
MIRT626396	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT626395	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT821468	hsa-miR-103a	CLIP-seq
MIRT821469	hsa-miR-107	CLIP-seq
MIRT821470	hsa-miR-1227	CLIP-seq
MIRT821471	hsa-miR-1302	CLIP-seq
MIRT821472	hsa-miR-1343	CLIP-seq
MIRT821473	hsa-miR-21	CLIP-seq
MIRT821474	hsa-miR-216b	CLIP-seq
MIRT821475	hsa-miR-3682-3p	CLIP-seq
MIRT821476	hsa-miR-3944-5p	CLIP-seq
MIRT821477	hsa-miR-4298	CLIP-seq
MIRT821478	hsa-miR-4502	CLIP-seq
MIRT821479	hsa-miR-4658	CLIP-seq
MIRT821480	hsa-miR-4659a-5p	CLIP-seq
MIRT821481	hsa-miR-4659b-5p	CLIP-seq
MIRT821482	hsa-miR-4758-5p	CLIP-seq
MIRT821483	hsa-miR-4762-3p	CLIP-seq
MIRT821484	hsa-miR-4766-3p	CLIP-seq
MIRT821485	hsa-miR-511	CLIP-seq
MIRT821486	hsa-miR-548g	CLIP-seq
MIRT821487	hsa-miR-548p	CLIP-seq
MIRT821488	hsa-miR-579	CLIP-seq
MIRT821489	hsa-miR-590-5p	CLIP-seq
MIRT821490	hsa-miR-556-3p	CLIP-seq
MIRT1942825	hsa-miR-1255a	CLIP-seq
MIRT1942826	hsa-miR-1255b	CLIP-seq
MIRT1942827	hsa-miR-1264	CLIP-seq
MIRT1942828	hsa-miR-1297	CLIP-seq
MIRT1942829	hsa-miR-1298	CLIP-seq
MIRT1942830	hsa-miR-147	CLIP-seq
MIRT1942831	hsa-miR-190	CLIP-seq
MIRT1942832	hsa-miR-190b	CLIP-seq
MIRT1942833	hsa-miR-199a-5p	CLIP-seq
MIRT1942834	hsa-miR-199b-5p	CLIP-seq
MIRT1942835	hsa-miR-2277-5p	CLIP-seq
MIRT1942836	hsa-miR-26a	CLIP-seq
MIRT1942837	hsa-miR-26b	CLIP-seq
MIRT1942838	hsa-miR-2964a-5p	CLIP-seq
MIRT1942839	hsa-miR-3607-5p	CLIP-seq
MIRT821475	hsa-miR-3682-3p	CLIP-seq
MIRT1942840	hsa-miR-3691-5p	CLIP-seq
MIRT1942841	hsa-miR-3911	CLIP-seq
MIRT1942842	hsa-miR-3935	CLIP-seq
MIRT821476	hsa-miR-3944-5p	CLIP-seq
MIRT1942843	hsa-miR-4465	CLIP-seq
MIRT1942844	hsa-miR-4479	CLIP-seq
MIRT1942845	hsa-miR-4493	CLIP-seq
MIRT1942846	hsa-miR-4752	CLIP-seq
MIRT821484	hsa-miR-4766-3p	CLIP-seq
MIRT1942847	hsa-miR-4775	CLIP-seq
MIRT1942848	hsa-miR-490-5p	CLIP-seq
MIRT821485	hsa-miR-511	CLIP-seq
MIRT821487	hsa-miR-548p	CLIP-seq
MIRT1942849	hsa-miR-590-3p	CLIP-seq
MIRT1942850	hsa-miR-644	CLIP-seq
MIRT1942851	hsa-miR-656	CLIP-seq
MIRT2181594	hsa-miR-1228	CLIP-seq
MIRT1942828	hsa-miR-1297	CLIP-seq
MIRT1942829	hsa-miR-1298	CLIP-seq
MIRT1942836	hsa-miR-26a	CLIP-seq
MIRT1942837	hsa-miR-26b	CLIP-seq
MIRT2181595	hsa-miR-3618	CLIP-seq
MIRT2181596	hsa-miR-377	CLIP-seq
MIRT2181597	hsa-miR-3936	CLIP-seq
MIRT1942843	hsa-miR-4465	CLIP-seq
MIRT2181598	hsa-miR-4685-5p	CLIP-seq
MIRT2181599	hsa-miR-4755-3p	CLIP-seq
MIRT2181600	hsa-miR-567	CLIP-seq
MIRT1942851	hsa-miR-656	CLIP-seq
MIRT2181601	hsa-miR-942	CLIP-seq
MIRT2485122	hsa-miR-1208	CLIP-seq
MIRT2181594	hsa-miR-1228	CLIP-seq
MIRT2485123	hsa-miR-140-5p	CLIP-seq
MIRT1942833	hsa-miR-199a-5p	CLIP-seq
MIRT1942834	hsa-miR-199b-5p	CLIP-seq
MIRT2485124	hsa-miR-2117	CLIP-seq
MIRT2485125	hsa-miR-296-5p	CLIP-seq
MIRT2485126	hsa-miR-3065-5p	CLIP-seq
MIRT2485127	hsa-miR-3145-5p	CLIP-seq
MIRT2485128	hsa-miR-3177-5p	CLIP-seq
MIRT2485129	hsa-miR-320a	CLIP-seq
MIRT2485130	hsa-miR-320b	CLIP-seq
MIRT2485131	hsa-miR-320c	CLIP-seq
MIRT2485132	hsa-miR-320d	CLIP-seq
MIRT2485133	hsa-miR-3661	CLIP-seq
MIRT2181596	hsa-miR-377	CLIP-seq
MIRT2485134	hsa-miR-4263	CLIP-seq
MIRT2485135	hsa-miR-4273	CLIP-seq
MIRT2485136	hsa-miR-4325	CLIP-seq
MIRT2485137	hsa-miR-4429	CLIP-seq
MIRT2485138	hsa-miR-4496	CLIP-seq
MIRT2485139	hsa-miR-4509	CLIP-seq
MIRT2485140	hsa-miR-452	CLIP-seq
MIRT2485141	hsa-miR-4676-3p	CLIP-seq
MIRT2485142	hsa-miR-4680-3p	CLIP-seq
MIRT2485143	hsa-miR-4684-3p	CLIP-seq
MIRT2485144	hsa-miR-4744	CLIP-seq
MIRT2485145	hsa-miR-4768-5p	CLIP-seq
MIRT2485146	hsa-miR-4799-5p	CLIP-seq
MIRT2485147	hsa-miR-491-3p	CLIP-seq
MIRT821485	hsa-miR-511	CLIP-seq
MIRT2485148	hsa-miR-576-5p	CLIP-seq
MIRT2485149	hsa-miR-628-5p	CLIP-seq
MIRT2485150	hsa-miR-631	CLIP-seq
MIRT2485151	hsa-miR-649	CLIP-seq
MIRT2485152	hsa-miR-922	CLIP-seq
MIRT2485153	hsa-miR-938	CLIP-seq
MIRT821468	hsa-miR-103a	CLIP-seq
MIRT821469	hsa-miR-107	CLIP-seq
MIRT2181594	hsa-miR-1228	CLIP-seq
MIRT1942827	hsa-miR-1264	CLIP-seq
MIRT2485123	hsa-miR-140-5p	CLIP-seq
MIRT2485124	hsa-miR-2117	CLIP-seq
MIRT821474	hsa-miR-216b	CLIP-seq
MIRT1942838	hsa-miR-2964a-5p	CLIP-seq
MIRT2485125	hsa-miR-296-5p	CLIP-seq
MIRT2485126	hsa-miR-3065-5p	CLIP-seq
MIRT2485127	hsa-miR-3145-5p	CLIP-seq
MIRT2485128	hsa-miR-3177-5p	CLIP-seq
MIRT2485133	hsa-miR-3661	CLIP-seq
MIRT2675965	hsa-miR-3688-3p	CLIP-seq
MIRT2181596	hsa-miR-377	CLIP-seq
MIRT2675966	hsa-miR-3925-3p	CLIP-seq
MIRT821476	hsa-miR-3944-5p	CLIP-seq
MIRT2675967	hsa-miR-3978	CLIP-seq
MIRT2485135	hsa-miR-4273	CLIP-seq
MIRT2675968	hsa-miR-4311	CLIP-seq
MIRT2485138	hsa-miR-4496	CLIP-seq
MIRT821479	hsa-miR-4658	CLIP-seq
MIRT2485142	hsa-miR-4680-3p	CLIP-seq
MIRT2675969	hsa-miR-4743	CLIP-seq
MIRT821482	hsa-miR-4758-5p	CLIP-seq
MIRT821484	hsa-miR-4766-3p	CLIP-seq
MIRT2485145	hsa-miR-4768-5p	CLIP-seq
MIRT1942848	hsa-miR-490-5p	CLIP-seq
MIRT2485147	hsa-miR-491-3p	CLIP-seq
MIRT821485	hsa-miR-511	CLIP-seq
MIRT821487	hsa-miR-548p	CLIP-seq
MIRT2675970	hsa-miR-548t	CLIP-seq
MIRT821488	hsa-miR-579	CLIP-seq
MIRT2675971	hsa-miR-617	CLIP-seq
MIRT2485149	hsa-miR-628-5p	CLIP-seq
MIRT2485150	hsa-miR-631	CLIP-seq
MIRT2485151	hsa-miR-649	CLIP-seq
MIRT2675972	hsa-miR-766	CLIP-seq
MIRT2485153	hsa-miR-938	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Repression	15024076
ZBTB16	Repression	20731660

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001836	Process	Release of cytochrome c from mitochondria	IDA	17052454
GO:0001836	Process	Release of cytochrome c from mitochondria	IEA
GO:0005123	Function	Death receptor binding	TAS	8918887
GO:0005515	Function	Protein binding	IPI	9463381, 12624108, 14963330, 15694340, 16697956, 17052454, 17123957, 17289999, 17485524, 19074266, 19074440, 20956295, 21036904, 21382479, 23374347, 23604079, 23782464, 24814347, 25241761, 25416956, 29531808, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9727491
GO:0005741	Component	Mitochondrial outer membrane	IDA	29531808
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	8918887
GO:0006626	Process	Protein targeting to mitochondrion	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	TAS	9727491
GO:0008637	Process	Apoptotic mitochondrial changes	IBA
GO:0008637	Process	Apoptotic mitochondrial changes	TAS	9727492
GO:0010918	Process	Positive regulation of mitochondrial membrane potential	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8918887
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IDA	19074440, 21041309
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0033554	Process	Cellular response to stress	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042770	Process	Signal transduction in response to DNA damage	TAS	18309324
GO:0042775	Process	Mitochondrial ATP synthesis coupled electron transport	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043028	Function	Cysteine-type endopeptidase regulator activity involved in apoptotic process	TAS	15661737
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	17289999, 21525171
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0051402	Process	Neuron apoptotic process	TAS	16167175
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0090150	Process	Establishment of protein localization to membrane	IDA	21041309
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IBA
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IDA	9727491, 32029622
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IEA
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IGI	21041309
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IMP	17289999, 21262771
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:0097284	Process	Hepatocyte apoptotic process	IDA	32029622
GO:0097284	Process	Hepatocyte apoptotic process	IEA
GO:0097345	Process	Mitochondrial outer membrane permeabilization	IEA
GO:0097435	Process	Supramolecular fiber organization	IDA	33106313
GO:1902108	Process	Regulation of mitochondrial membrane permeability involved in apoptotic process	IEA
GO:1902230	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:1902531	Process	Regulation of intracellular signal transduction	IEA
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IEA
GO:2000271	Process	Positive regulation of fibroblast apoptotic process	IEA
GO:2001233	Process	Regulation of apoptotic signaling pathway	IEA
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IBA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IMP	21459798
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IBA
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	21262771

Other IDs

• MIM: 601997
• HGNC: 1050
• e!Ensembl: ENSG00000015475

Protein

• UniProt ID: P55957
• Protein name: BH3-interacting domain death agonist (p22 BID) (BID) [Cleaved into: BH3-interacting domain death agonist p15 (p15 BID); BH3-interacting domain death agonist p13 (p13 BID); BH3-interacting domain death agonist p11 (p11 BID)]
• Protein function: Induces caspases and apoptosis (PubMed:14583606). Counters the protective effect of BCL2 (By similarity). ; [BH3-interacting domain death agonist p15]: Induces caspase activat
• PDB: 1ZY3, 2BID, 2KBW, 2M5B, 2M5I, 4BD2, 4QVE, 4ZEQ, 4ZIG, 4ZII, 5AJJ, 5C3F, 7M5A, 7M5B, 7P33, 7QTW, 8SM5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06393	BID	3 → 192	BH3 interacting domain (BID)	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 2]: Expressed in spleen, pancreas and placenta (at protein level). {ECO:0000269|PubMed:14583606}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in lung, pancreas and spleen (at protein level). {ECO:0000269|PubMed:14583606}.; TIS
• Sequence:

  MDCEVNNGSSLRDECITNLLVFGFLQSCSDNSFRRELDALGHELPVLAPQWEGYDELQTD
  GNRSSHSRLGRIEADSESQEDIIRNIARHLAQVGDSMDRSIPPGLVNGLALQLRNTSRSE
  EDRNRDLATALEQLLQAYPRDMEKEKTMLVLALLLAKKVASHTPSLLRDVFHTTVNFINQ
  NLRTYVRSLARNGMD

• Sequence length: 195

Pathways

KEGG:

Platinum drug resistance
Sphingolipid signaling pathway
p53 signaling pathway
Apoptosis
Apoptosis - multiple species
Necroptosis
Natural killer cell mediated cytotoxicity
Non-alcoholic fatty liver disease
Alzheimer disease
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Viral myocarditis
Lipid and atherosclerosis

Reactome:

Activation of BAD and translocation to mitochondria
Activation and oligomerization of BAK protein
BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
Activation, translocation and oligomerization of BAX
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
Activation, myristolyation of BID and translocation to mitochondria

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	14716828, 17762183		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25368155		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	25368155		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	20462799	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20187936	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30250631		★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	12648450	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	22237207, 24270523, 26848042, 29363721, 29891925, 30343279, 30845773, 31636641		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	22545112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22545112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	22545112	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Brain ischemia	Pubtator	33460396	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16874058, 17666167, 19423537, 24903226, 31367790		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12644829, 19423537, 30810413	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24741635	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15095271		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20188762, 27509965, 29969781	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22130162		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31626592, 40447904	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28768756, 28992468		★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	11381032, 9721221		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20731660		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16741250, 28126962, 30556269, 30601084		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29202767		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29495595		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18593990		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25556496	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28004114		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18593990, 18648372, 21524306, 27053107	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31172515		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31451351		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29695048		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23335850	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29695048		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27128216, 29729957		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	30614939		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	22641220		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28883393		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	26555271		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	18234488		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30385739	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22393246	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30018638		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30033575		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	15095271		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	39625996	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	29028123		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23209654	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31202506		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	24621205		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	29696684		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	25368155		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11238127, 24099795	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25522269	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	26403071		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	15289866		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25294187, 29520435		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	31576482		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	21368859	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	39625996	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18089817		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22130162, 38554387	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29384702		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16874058, 17666167, 19423537, 24903226, 31367790		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	26403071		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11593415		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15095271		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	15095271		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29749543		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15095271, 16874058, 19908232, 25294187, 25368155, 25732197, 26403071		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16077201, 17666167, 18317451		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12061801		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22742884, 27993793		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	12690107, 15465831, 20404718, 31443721	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	25197631	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35328342	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	15755901	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23851982		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30281024		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19046991, 22130162, 22595758, 22641220, 22931421		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	30977509		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15632181, 27824082	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27461583, 27655223, 30819679, 31027916, 31739184		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28440045		★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	29239664		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20661217, 22683989	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	14583775, 31856624	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31275848		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	22300941		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11593415		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18668529, 21703393	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31202506		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	33539912	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28416970	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28500254		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22545112, 30180918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	22545112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22545112	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	24711126		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	28240592		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	30498976		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33837652	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28883393		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15095271		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14716828, 24741635	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	15095271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	22300941	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	22300941		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29749543		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29749543		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	29749543	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27367565		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15685241	Associate	★☆☆☆☆ Found in Text Mining only