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	6046
Gene name	Bromodomain containing 2
Gene symbol	BRD2
Synonyms (NCBI Gene)	BRD2-IT1D6S113EFSHFSHRG1FSRG1NATO27.1.1RING3RNF3
Chromosome	6
Chromosome location	6p21.32
Summary	This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds

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Show/Hide all (276)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052027	hsa-let-7b-5p	CLASH	23622248
MIRT051807	hsa-let-7c-5p	CLASH	23622248
MIRT049226	hsa-miR-92a-3p	CLASH	23622248
MIRT049226	hsa-miR-92a-3p	CLASH	23622248
MIRT047023	hsa-miR-204-5p	CLASH	23622248
MIRT042162	hsa-miR-484	CLASH	23622248
MIRT041086	hsa-miR-504-5p	CLASH	23622248
MIRT039679	hsa-miR-615-3p	CLASH	23622248
MIRT039679	hsa-miR-615-3p	CLASH	23622248
MIRT039079	hsa-miR-769-3p	CLASH	23622248
MIRT038361	hsa-miR-296-3p	CLASH	23622248
MIRT038361	hsa-miR-296-3p	CLASH	23622248
MIRT038361	hsa-miR-296-3p	CLASH	23622248
MIRT037955	hsa-miR-505-5p	CLASH	23622248
MIRT037308	hsa-miR-877-5p	CLASH	23622248
MIRT036599	hsa-miR-940	CLASH	23622248
MIRT036359	hsa-miR-1229-3p	CLASH	23622248
MIRT755309	hsa-miR-143-3p	PAR-CLIP	26701625
MIRT755309	hsa-miR-143-3p	PAR-CLIP	26701625
MIRT755309	hsa-miR-143-3p	PAR-CLIP	26701625
MIRT755309	hsa-miR-143-3p	PAR-CLIP	26701625
MIRT755309	hsa-miR-143-3p	Western blottingqRT-PCR	38463605
MIRT824185	hsa-miR-1224-3p	CLIP-seq
MIRT824186	hsa-miR-1260	CLIP-seq
MIRT824187	hsa-miR-1260b	CLIP-seq
MIRT824188	hsa-miR-1280	CLIP-seq
MIRT824189	hsa-miR-143	CLIP-seq
MIRT824190	hsa-miR-1539	CLIP-seq
MIRT824191	hsa-miR-1913	CLIP-seq
MIRT824192	hsa-miR-3074-5p	CLIP-seq
MIRT824193	hsa-miR-3126-3p	CLIP-seq
MIRT824194	hsa-miR-3127-5p	CLIP-seq
MIRT824195	hsa-miR-3158-3p	CLIP-seq
MIRT824196	hsa-miR-3176	CLIP-seq
MIRT824197	hsa-miR-3189-5p	CLIP-seq
MIRT824198	hsa-miR-3193	CLIP-seq
MIRT824199	hsa-miR-323-5p	CLIP-seq
MIRT824200	hsa-miR-324-3p	CLIP-seq
MIRT824201	hsa-miR-361-3p	CLIP-seq
MIRT824202	hsa-miR-3614-3p	CLIP-seq
MIRT824203	hsa-miR-3667-3p	CLIP-seq
MIRT824204	hsa-miR-3918	CLIP-seq
MIRT824205	hsa-miR-3922-3p	CLIP-seq
MIRT824206	hsa-miR-4297	CLIP-seq
MIRT824207	hsa-miR-4699-3p	CLIP-seq
MIRT824208	hsa-miR-4722-3p	CLIP-seq
MIRT824209	hsa-miR-4757-5p	CLIP-seq
MIRT824210	hsa-miR-4758-3p	CLIP-seq
MIRT824211	hsa-miR-4764-3p	CLIP-seq
MIRT824212	hsa-miR-4772-5p	CLIP-seq
MIRT824213	hsa-miR-507	CLIP-seq
MIRT824214	hsa-miR-508-5p	CLIP-seq
MIRT824215	hsa-miR-532-3p	CLIP-seq
MIRT824216	hsa-miR-557	CLIP-seq
MIRT824217	hsa-miR-601	CLIP-seq
MIRT824218	hsa-miR-615-5p	CLIP-seq
MIRT824219	hsa-miR-658	CLIP-seq
MIRT824220	hsa-miR-663b	CLIP-seq
MIRT824221	hsa-miR-939	CLIP-seq
MIRT824222	hsa-miR-1248	CLIP-seq
MIRT824223	hsa-miR-1276	CLIP-seq
MIRT824189	hsa-miR-143	CLIP-seq
MIRT824224	hsa-miR-1470	CLIP-seq
MIRT824225	hsa-miR-3127-3p	CLIP-seq
MIRT824226	hsa-miR-3184	CLIP-seq
MIRT824227	hsa-miR-3612	CLIP-seq
MIRT824201	hsa-miR-361-3p	CLIP-seq
MIRT824228	hsa-miR-3929	CLIP-seq
MIRT824229	hsa-miR-423-5p	CLIP-seq
MIRT824230	hsa-miR-4419b	CLIP-seq
MIRT824231	hsa-miR-4443	CLIP-seq
MIRT824232	hsa-miR-4478	CLIP-seq
MIRT824233	hsa-miR-4667-3p	CLIP-seq
MIRT824210	hsa-miR-4758-3p	CLIP-seq
MIRT824234	hsa-miR-4778-3p	CLIP-seq
MIRT824235	hsa-miR-4802-5p	CLIP-seq
MIRT824236	hsa-miR-485-5p	CLIP-seq
MIRT824237	hsa-miR-642a	CLIP-seq
MIRT824238	hsa-miR-650	CLIP-seq
MIRT824221	hsa-miR-939	CLIP-seq
MIRT824239	hsa-miR-1323	CLIP-seq
MIRT824189	hsa-miR-143	CLIP-seq
MIRT824240	hsa-miR-216a	CLIP-seq
MIRT824201	hsa-miR-361-3p	CLIP-seq
MIRT824241	hsa-miR-3657	CLIP-seq
MIRT824242	hsa-miR-3675-5p	CLIP-seq
MIRT824243	hsa-miR-371-5p	CLIP-seq
MIRT824244	hsa-miR-371b-5p	CLIP-seq
MIRT824204	hsa-miR-3918	CLIP-seq
MIRT824245	hsa-miR-409-3p	CLIP-seq
MIRT824246	hsa-miR-4283	CLIP-seq
MIRT824247	hsa-miR-4489	CLIP-seq
MIRT824248	hsa-miR-4492	CLIP-seq
MIRT824249	hsa-miR-4498	CLIP-seq
MIRT824250	hsa-miR-4505	CLIP-seq
MIRT824251	hsa-miR-4646-5p	CLIP-seq
MIRT824252	hsa-miR-4669	CLIP-seq
MIRT824209	hsa-miR-4757-5p	CLIP-seq
MIRT824211	hsa-miR-4764-3p	CLIP-seq
MIRT824253	hsa-miR-483-3p	CLIP-seq
MIRT824214	hsa-miR-508-5p	CLIP-seq
MIRT824254	hsa-miR-548o	CLIP-seq
MIRT824220	hsa-miR-663b	CLIP-seq
MIRT824255	hsa-miR-762	CLIP-seq
MIRT824256	hsa-miR-938	CLIP-seq
MIRT824221	hsa-miR-939	CLIP-seq
MIRT824209	hsa-miR-4757-5p	CLIP-seq
MIRT824220	hsa-miR-663b	CLIP-seq
MIRT1556039	hsa-miR-486-3p	CLIP-seq
MIRT824224	hsa-miR-1470	CLIP-seq
MIRT824191	hsa-miR-1913	CLIP-seq
MIRT824197	hsa-miR-3189-5p	CLIP-seq
MIRT824200	hsa-miR-324-3p	CLIP-seq
MIRT824204	hsa-miR-3918	CLIP-seq
MIRT1943652	hsa-miR-4286	CLIP-seq
MIRT1943653	hsa-miR-4418	CLIP-seq
MIRT824210	hsa-miR-4758-3p	CLIP-seq
MIRT1556039	hsa-miR-486-3p	CLIP-seq
MIRT1943654	hsa-miR-509-3-5p	CLIP-seq
MIRT1943655	hsa-miR-509-5p	CLIP-seq
MIRT824217	hsa-miR-601	CLIP-seq
MIRT824204	hsa-miR-3918	CLIP-seq
MIRT2182308	hsa-miR-1207-5p	CLIP-seq
MIRT2182309	hsa-miR-1273f	CLIP-seq
MIRT824239	hsa-miR-1323	CLIP-seq
MIRT824189	hsa-miR-143	CLIP-seq
MIRT824224	hsa-miR-1470	CLIP-seq
MIRT824190	hsa-miR-1539	CLIP-seq
MIRT2182310	hsa-miR-1908	CLIP-seq
MIRT824191	hsa-miR-1913	CLIP-seq
MIRT2182311	hsa-miR-1915	CLIP-seq
MIRT824240	hsa-miR-216a	CLIP-seq
MIRT2182312	hsa-miR-296-5p	CLIP-seq
MIRT824192	hsa-miR-3074-5p	CLIP-seq
MIRT2182313	hsa-miR-3120-3p	CLIP-seq
MIRT824193	hsa-miR-3126-3p	CLIP-seq
MIRT824194	hsa-miR-3127-5p	CLIP-seq
MIRT2182314	hsa-miR-3151	CLIP-seq
MIRT824195	hsa-miR-3158-3p	CLIP-seq
MIRT824196	hsa-miR-3176	CLIP-seq
MIRT2182315	hsa-miR-3179	CLIP-seq
MIRT2182316	hsa-miR-3180	CLIP-seq
MIRT2182317	hsa-miR-3180-3p	CLIP-seq
MIRT2182318	hsa-miR-3185	CLIP-seq
MIRT824197	hsa-miR-3189-5p	CLIP-seq
MIRT824198	hsa-miR-3193	CLIP-seq
MIRT2182319	hsa-miR-3196	CLIP-seq
MIRT2182320	hsa-miR-3202	CLIP-seq
MIRT824200	hsa-miR-324-3p	CLIP-seq
MIRT2182321	hsa-miR-324-5p	CLIP-seq
MIRT824201	hsa-miR-361-3p	CLIP-seq
MIRT824202	hsa-miR-3614-3p	CLIP-seq
MIRT2182322	hsa-miR-3665	CLIP-seq
MIRT824203	hsa-miR-3667-3p	CLIP-seq
MIRT824242	hsa-miR-3675-5p	CLIP-seq
MIRT824243	hsa-miR-371-5p	CLIP-seq
MIRT824244	hsa-miR-371b-5p	CLIP-seq
MIRT824204	hsa-miR-3918	CLIP-seq
MIRT824205	hsa-miR-3922-3p	CLIP-seq
MIRT824245	hsa-miR-409-3p	CLIP-seq
MIRT2182323	hsa-miR-4267	CLIP-seq
MIRT2182324	hsa-miR-4271	CLIP-seq
MIRT824246	hsa-miR-4283	CLIP-seq
MIRT1943652	hsa-miR-4286	CLIP-seq
MIRT824206	hsa-miR-4297	CLIP-seq
MIRT1943653	hsa-miR-4418	CLIP-seq
MIRT2182325	hsa-miR-4436b-3p	CLIP-seq
MIRT2182326	hsa-miR-4488	CLIP-seq
MIRT824247	hsa-miR-4489	CLIP-seq
MIRT824248	hsa-miR-4492	CLIP-seq
MIRT824249	hsa-miR-4498	CLIP-seq
MIRT824250	hsa-miR-4505	CLIP-seq
MIRT824251	hsa-miR-4646-5p	CLIP-seq
MIRT824233	hsa-miR-4667-3p	CLIP-seq
MIRT2182327	hsa-miR-4688	CLIP-seq
MIRT2182328	hsa-miR-4694-3p	CLIP-seq
MIRT2182329	hsa-miR-4697-5p	CLIP-seq
MIRT824207	hsa-miR-4699-3p	CLIP-seq
MIRT2182330	hsa-miR-4708-5p	CLIP-seq
MIRT2182331	hsa-miR-4716-3p	CLIP-seq
MIRT2182332	hsa-miR-4716-5p	CLIP-seq
MIRT824208	hsa-miR-4722-3p	CLIP-seq
MIRT2182333	hsa-miR-4725-3p	CLIP-seq
MIRT2182334	hsa-miR-4736	CLIP-seq
MIRT2182335	hsa-miR-4747-5p	CLIP-seq
MIRT824209	hsa-miR-4757-5p	CLIP-seq
MIRT824210	hsa-miR-4758-3p	CLIP-seq
MIRT2182336	hsa-miR-4761-3p	CLIP-seq
MIRT2182337	hsa-miR-4763-3p	CLIP-seq
MIRT824211	hsa-miR-4764-3p	CLIP-seq
MIRT824212	hsa-miR-4772-5p	CLIP-seq
MIRT824253	hsa-miR-483-3p	CLIP-seq
MIRT1556039	hsa-miR-486-3p	CLIP-seq
MIRT824213	hsa-miR-507	CLIP-seq
MIRT824214	hsa-miR-508-5p	CLIP-seq
MIRT1943654	hsa-miR-509-3-5p	CLIP-seq
MIRT1943655	hsa-miR-509-5p	CLIP-seq
MIRT2182338	hsa-miR-545	CLIP-seq
MIRT824254	hsa-miR-548o	CLIP-seq
MIRT824216	hsa-miR-557	CLIP-seq
MIRT2182339	hsa-miR-597	CLIP-seq
MIRT2182340	hsa-miR-625	CLIP-seq
MIRT824219	hsa-miR-658	CLIP-seq
MIRT2182341	hsa-miR-663	CLIP-seq
MIRT824220	hsa-miR-663b	CLIP-seq
MIRT824255	hsa-miR-762	CLIP-seq
MIRT824256	hsa-miR-938	CLIP-seq
MIRT824221	hsa-miR-939	CLIP-seq
MIRT824224	hsa-miR-1470	CLIP-seq
MIRT2384872	hsa-miR-2052	CLIP-seq
MIRT2384873	hsa-miR-2355-3p	CLIP-seq
MIRT824245	hsa-miR-409-3p	CLIP-seq
MIRT2384874	hsa-miR-4646-3p	CLIP-seq
MIRT2182332	hsa-miR-4716-5p	CLIP-seq
MIRT1556039	hsa-miR-486-3p	CLIP-seq
MIRT824207	hsa-miR-4699-3p	CLIP-seq
MIRT824224	hsa-miR-1470	CLIP-seq
MIRT2384872	hsa-miR-2052	CLIP-seq
MIRT2384873	hsa-miR-2355-3p	CLIP-seq
MIRT2384874	hsa-miR-4646-3p	CLIP-seq
MIRT824233	hsa-miR-4667-3p	CLIP-seq
MIRT2182332	hsa-miR-4716-5p	CLIP-seq
MIRT2486011	hsa-miR-1252	CLIP-seq
MIRT824223	hsa-miR-1276	CLIP-seq
MIRT824224	hsa-miR-1470	CLIP-seq
MIRT2182311	hsa-miR-1915	CLIP-seq
MIRT2486012	hsa-miR-205	CLIP-seq
MIRT2384872	hsa-miR-2052	CLIP-seq
MIRT2384873	hsa-miR-2355-3p	CLIP-seq
MIRT2182312	hsa-miR-296-5p	CLIP-seq
MIRT2486013	hsa-miR-3148	CLIP-seq
MIRT824201	hsa-miR-361-3p	CLIP-seq
MIRT824241	hsa-miR-3657	CLIP-seq
MIRT824204	hsa-miR-3918	CLIP-seq
MIRT824246	hsa-miR-4283	CLIP-seq
MIRT2182326	hsa-miR-4488	CLIP-seq
MIRT2486014	hsa-miR-4533	CLIP-seq
MIRT2384874	hsa-miR-4646-3p	CLIP-seq
MIRT824233	hsa-miR-4667-3p	CLIP-seq
MIRT2486015	hsa-miR-4668-5p	CLIP-seq
MIRT824252	hsa-miR-4669	CLIP-seq
MIRT2182328	hsa-miR-4694-3p	CLIP-seq
MIRT2182329	hsa-miR-4697-5p	CLIP-seq
MIRT2182332	hsa-miR-4716-5p	CLIP-seq
MIRT2486016	hsa-miR-4790-3p	CLIP-seq
MIRT2486017	hsa-miR-4797-5p	CLIP-seq
MIRT2486018	hsa-miR-548c-3p	CLIP-seq
MIRT2486019	hsa-miR-570	CLIP-seq
MIRT2486020	hsa-miR-760	CLIP-seq
MIRT2486011	hsa-miR-1252	CLIP-seq
MIRT824223	hsa-miR-1276	CLIP-seq
MIRT824224	hsa-miR-1470	CLIP-seq
MIRT2182311	hsa-miR-1915	CLIP-seq
MIRT2486012	hsa-miR-205	CLIP-seq
MIRT2384872	hsa-miR-2052	CLIP-seq
MIRT2384873	hsa-miR-2355-3p	CLIP-seq
MIRT2182312	hsa-miR-296-5p	CLIP-seq
MIRT2486013	hsa-miR-3148	CLIP-seq
MIRT824201	hsa-miR-361-3p	CLIP-seq
MIRT824241	hsa-miR-3657	CLIP-seq
MIRT824204	hsa-miR-3918	CLIP-seq
MIRT824246	hsa-miR-4283	CLIP-seq
MIRT2182326	hsa-miR-4488	CLIP-seq
MIRT2486014	hsa-miR-4533	CLIP-seq
MIRT2384874	hsa-miR-4646-3p	CLIP-seq
MIRT824233	hsa-miR-4667-3p	CLIP-seq
MIRT2486015	hsa-miR-4668-5p	CLIP-seq
MIRT824252	hsa-miR-4669	CLIP-seq
MIRT2182328	hsa-miR-4694-3p	CLIP-seq
MIRT2182329	hsa-miR-4697-5p	CLIP-seq
MIRT2182332	hsa-miR-4716-5p	CLIP-seq
MIRT2486016	hsa-miR-4790-3p	CLIP-seq
MIRT2486017	hsa-miR-4797-5p	CLIP-seq
MIRT2486018	hsa-miR-548c-3p	CLIP-seq
MIRT2486019	hsa-miR-570	CLIP-seq
MIRT2486020	hsa-miR-760	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
BRD7	Activation	12600283

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	17848202, 20048151, 20709061
GO:0001843	Process	Neural tube closure	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	8595877
GO:0005515	Function	Protein binding	IPI	20709061, 24229708
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8595877, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IMP	18406326
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	18406326, 28262505
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	8272873
GO:0007283	Process	Spermatogenesis	TAS	9693039
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IEA
GO:0071168	Process	Protein localization to chromatin	IDA	28262505
GO:0071168	Process	Protein localization to chromatin	IEA
GO:0072540	Process	T-helper 17 cell lineage commitment	TAS	27893700
GO:0140011	Function	Histone H4K12ac reader activity	IDA	17848202, 18406326, 20048151, 20709061
GO:0140011	Function	Histone H4K12ac reader activity	IEA
GO:0140012	Function	Histone H4K5ac reader activity	IDA	18406326, 20709061
GO:0140015	Function	Histone H3K14ac reader activity	IDA	18406326
GO:0140033	Function	Acetylation-dependent protein binding	IDA	28262505
GO:0140033	Function	Acetylation-dependent protein binding	IEA
GO:0140588	Process	Chromatin looping	IDA	35410381
GO:0140588	Process	Chromatin looping	IEA
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	IDA	28262505
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	IEA

MIM	HGNC	e!Ensembl
601540	1103	ENSG00000204256

P25440

Protein name

Bromodomain-containing protein 2 (O27.1.1)

Protein function

Chromatin reader protein that specifically recognizes and binds histone H4 acetylated at 'Lys-5' and 'Lys-12' (H4K5ac and H4K12ac, respectively), thereby controlling gene expression and remodeling chromatin structures (PubMed:17148447, PubMed:17

PDB

1X0J , 2DVQ , 2DVR , 2DVS , 2DVV , 2E3K , 2G4A , 2YDW , 2YEK , 3AQA , 3ONI , 4A9E , 4A9F , 4A9H , 4A9I , 4A9J , 4A9M , 4A9N , 4A9O , 4AKN , 4ALG , 4ALH , 4J1P , 4MR5 , 4MR6 , 4QEU , 4QEV , 4QEW , 4UYF , 4UYG , 4UYH , 5BT5 , 5DFB , 5DFC , 5DFD , 5DW1 , 5EK9 , 5HEL , 5HEM , 5HEN , 5HFQ , 5IBN , 5IG6 , 5N2L , 5O38 , 5O39 , 5O3A , 5O3B , 5O3C , 5O3D , 5O3E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00439	Bromodomain	83 → 168	Bromodomain	Domain
PF00439	Bromodomain	353 → 441	Bromodomain	Domain
PF17035	BET	641 → 705	Bromodomain extra-terminal - transcription regulation	Domain

Sequence

MLQNVTPHNKLPGEGNAGLLGLGPEAAAPGKRIRKPSLLYEGFESPTMASVPALQLTPAN
PPPPEVSNPKKPGRVTNQLQYLHKVVMKALWKHQFAWPFRQPVDAVKLGLPDYHKIIKQP
MDMGTIKRRLENNYYWAASECMQDFNTMFTNCYIYNKPTDDIVLMAQTLEKIFLQKVASM
PQEEQELVVTIPKNSHKKGAKLAALQGSVTSAHQVPAVSSVSHTALYTPPPEIPTTVLNI
PHPSVISSPLLKSLHSAGPPLLAVTAAPPAQPLAKKKGVKRKADTTTPTPTAILAPGSPA
SPPGSLEPKAARLPPMRRESGRPIKPPRKDLPDSQQQHQSSKKGKLSEQLKHCNGILKEL
LSKKHAAYAWPFYKPVDASALGLHDYHDIIKHPMDLSTVKRKMENRDYRDAQEFAADVRL
MFSNCYKYNPPDHDVVAMARKLQDVFEFRYAKMPDEPLEPGPLPVSTAMPPGLAKSSSES
SSEESSSESSSEEEEEEDEEDEEEEESESSDSEEERAHRLAELQEQLRAVHEQLAALSQG
PISKPKRKREKKEKKKKRKAEKHRGRAGADEDDKGPRAPRPPQPKKSKKASGSGGGSAAL
GPSGFGPSGGSGTKLPKKATKTAPPALPTGYDSEEEEESRPMSYDEKRQLSLDINKLPGE
KLGRVVHIIQAREPSLRDSNPEEIEIDFETLKPSTLRELERYVLSCLRKKPRKPYTIKKP
VGKTKEELALEKKRELEKRLQDVSGQLNSTKKPPKKANEKTESSSAQQVAVSRLSASSSS
SDSSSSSSSSSSSDTSDSDSG

Sequence length

801

Interactions

View interactions

	Reactome
			RUNX3 regulates p14-ARF

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 (27)

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
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRD2-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE MYOCLONIC EPILEPSY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	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
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ 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 (250)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	26935236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	10523037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10079288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10523037, 11422113, 11579683, 11700887, 18056718, 19401813, 2118538, 26884293, 28362886, 7680355, 8297469, 8434650, 9398737, 9724070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	36793283	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	12519827, 17527005, 22286346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	22048970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	22048970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10079288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	17166848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28986734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG	24231268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	11788616, 765906		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31126889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aromatase deficiency	Aromatase Deficiency	BEFREE	10566648, 24705274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27898717, 33717143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	20602614		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	26252651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	12620433, 29040537, 30465464, 30668782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	32860660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	11532468, 21486417, 29466784, 29528137, 29737873		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17166848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	33168801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10398432, 15011747, 15274316, 15661422, 7607565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	30581325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28351392, 28742191, 28986734, 9610785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15743503, 25001387, 30952871, 33099470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	29231147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10398432, 15011747, 15274316, 15661422, 7607565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18199719, 18375788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31043489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28096419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10379885, 20215102, 23580589, 23951246, 28983974, 31043489, 7962282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29975581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	28827713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	31417557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	31417557		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	23526466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10079288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG	24231268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical galactosemia	Galactosemia	BEFREE	7962282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28008999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	12929584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	9699660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15015580, 18990750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	8323173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypothyroidism	Congenital Central Hypothyroidism	BEFREE	28262687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11576728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22862160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30562316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	28008999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	24691874, 30576537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	20467160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of testosterone biosynthesis	Deficiency Of Testosterone Biosynthesis	BEFREE	29781510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	26094530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29551941, 498052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG	24231268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23374712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23374712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26409796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19883376, 20585247, 23374712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	7851073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	17166848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	16192704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	11518810, 30581325, 342383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30562316, 31454787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	31644470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	29887834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	28534997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	30165367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15939586, 28805821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	27224263, 30935663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	12372470, 19524223, 21269613, 25935136, 26732621, 28831646, 31020439, 31628036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17437413, 28549975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	21608014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	12830434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20215102, 23951246, 31043489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29898995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	BEFREE	28611948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	BEFREE	28660561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	9589695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicle-stimulating hormone deficiency, isolated	Follicle stimulating hormone deficiency	BEFREE	12161499, 17961559, 19966036, 30602350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	BEFREE	7962282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	27388964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10455418, 24496381, 29956673		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	27388964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	10455418, 24496381, 29956673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	27388964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30581325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	31786966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	17554051, 17624596		★★★★★ ★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	11063655, 19539204, 9435455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	11422113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24335499, 24435449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	24435449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28986734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	11700887, 7680355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	19403562, 29428312, 30573529, 30851546, 30958034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	7596677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	29781510, 7596677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29975581		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERTRICHOSIS, CONGENITAL GENERALIZED	HYPERTRICHOSIS	BEFREE	21227937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	17554051, 17624596, 8077624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	11397871, 15554891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	10522996, 12402986, 15728198, 16358135, 18449926, 20467160, 21672607, 23435529, 29361664, 30021630, 31030566, 31178827, 7584702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	18166181, 24058690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	3864567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	21887291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	20382682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31504137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	31504137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29293891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32860660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	28008999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	28008999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11306798, 18310677, 30581325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	15494263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	30003441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	12830434, 16049035, 16278970, 16516380, 17437413, 19953286, 21887291, 23756480, 28636645, 29608786, 30719712		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	12830434		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	BEFREE	20389090, 30194850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	11752715		★★★★★ ★☆☆☆☆ Found in Text Mining only
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	Klippel Feil syndrome	BEFREE	29466784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	15770721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	39273015	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15796204, 25989842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16309210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	31532522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	BEFREE	23617956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	29150549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17166848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	17166848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	16847422, 20131310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30790165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	29144813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28351392, 28742191, 28986734, 29364493, 9610785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	15939586, 28805821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18199719, 18375788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10379885, 23580589, 28983974, 7962282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18499698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11350908, 18680472, 30918020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30502323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10398432, 15011747, 15274316, 15661422, 7607565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10704737, 16621679, 17166848, 18680472, 18980020, 19898993, 25269615, 27435394, 28582849, 29338607, 29506861, 31587361, 31681968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CTD_human_DG	24231268		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG	24231268		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26051178		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	26051178, 29149598	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG	24231268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29551941, 498052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11306798, 18310677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27865874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28284656, 29547878, 30053787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	20389090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	28434653, 29040537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36755464	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	31647829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	957378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	8651646, 9008491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10079288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30562316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	16516380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	12830434, 17437413, 29608786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	604492, 9506542		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	29887834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31270100	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31289279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	31270100	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10208636, 10379885, 10398432, 10523037, 11994539, 12382017, 12760377, 14503797, 14765992, 15525642, 15803804, 15939586, 16052427, 16158187, 17166848 View all (15 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31184936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30576537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	29498920, 29660734, 29975581, 31832114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	14645168, 28187504, 31655977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18706736, 28132868, 31619992		★★★★★ ★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	26976114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23374712, 27581934, 29462242, 30085049, 30476103, 30581325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	19883376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	11532468, 18266473, 21486417, 29737873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ogden syndrome	Ogden Syndrome	BEFREE	25489052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	11532468, 12407032, 21105990, 21853383, 22000911, 23118424, 23435529, 27792863, 28125168, 29538680, 30465464, 31134836, 31178827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	22092501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	16630814, 22908268, 29738833, 30085049, 31454787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29462242, 30085049, 31454787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	20335500, 29738833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	15015580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian dysgenesis	Ovarian Dysgenesis	BEFREE	8855829, 9039330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	15205401, 15562017, 16722528, 16751643, 17482166, 17981816, 18574220, 18987497, 19017414, 19346101, 19712568, 19752047, 19837940, 20361200, 20382564 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	17074323, 18056718, 18321487, 19017414, 28345956, 28535578, 28676954, 29121269, 29271274, 31839394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian hyperstimulation syndrome	Pubtator	29869218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10379885, 11994539, 12471615, 23580589, 28983974, 7962282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33509905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	7680355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18499698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	12519827, 15302300, 16984240, 20534763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28582849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36813848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	20389090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	15237930, 25027022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	16522734, 6771321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	20685856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	3864567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	23617956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	10216519, 10468971, 10871644, 144874, 15878924, 16091483, 16551732, 16720659, 16965825, 17148555, 17284512, 18056718, 18230658, 19524223, 20015405 View all (38 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	20685856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	17937064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	15205401, 15562017, 16722528, 16751643, 17482166, 17981816, 18574220, 18987497, 19017414, 19346101, 19712568, 19752047, 19837940, 20382564, 20570974 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26094530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	15579739, 15866602, 23884663, 342383, 568665, 7596677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	BEFREE	1955510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	BEFREE	17482166, 19966036, 20237833, 28708305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	10523037, 21441703, 29660734, 7750098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18680472, 30918020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35361883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	12970262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1C	Pseudohypoparathyroidism	BEFREE	30581325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	30581325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	37516840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23115324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Reflex Epilepsy, Photosensitive	Retinitis Pigmentosa	BEFREE	22766109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15525642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25467295		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	37399103	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	BEFREE	16645022, 28438188, 8855829, 9769327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	21608014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	16158187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	15043560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31644470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	31661639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	1941962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11266080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34346116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30502323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30952132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	16192704, 26370242, 27328025, 30137325, 30981620, 31715078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Microlithiasis	Testicular Microlithiasis	BEFREE	19712470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testotoxicosis	Testotoxicosis	BEFREE	29538680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29437854, 31000582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38073442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	16968797, 17381484, 20798475, 29415703, 8157730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tyrosine Kinase 2 Deficiency	Tyrosine kinase 2 deficiency	Pubtator	24435449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	28008999		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	30790165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	10507782, 8396914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	11383907, 28547739, 31134836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	19017414, 19549443, 21752882, 28158425, 29982525, 30520979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	30196974		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	10931089		★★★★★ ★☆☆☆☆ Found in Text Mining only

BRD2 (bromodomain containing 2)