BRD1 (bromodomain containing 1)

Gene

• Entrez ID: 23774
• Gene name: Bromodomain containing 1
• Gene symbol: BRD1
• Synonyms (NCBI Gene): BRL, BRPF1, BRPF2
• Chromosome: 22
• Chromosome location: 22q13.33
• Summary: This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4,

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021155	hsa-miR-186-5p	Sequencing	20371350
MIRT024192	hsa-miR-221-3p	Sequencing	20371350
MIRT046561	hsa-let-7g-5p	CLASH	23622248
MIRT041191	hsa-miR-497-5p	CLASH	23622248
MIRT040831	hsa-miR-18a-3p	CLASH	23622248
MIRT824152	hsa-miR-1273f	CLIP-seq
MIRT824153	hsa-miR-137	CLIP-seq
MIRT824154	hsa-miR-150	CLIP-seq
MIRT824155	hsa-miR-1972	CLIP-seq
MIRT824156	hsa-miR-2052	CLIP-seq
MIRT824157	hsa-miR-21	CLIP-seq
MIRT824158	hsa-miR-300	CLIP-seq
MIRT824159	hsa-miR-3163	CLIP-seq
MIRT824160	hsa-miR-329	CLIP-seq
MIRT824161	hsa-miR-338-5p	CLIP-seq
MIRT824162	hsa-miR-362-3p	CLIP-seq
MIRT824163	hsa-miR-3713	CLIP-seq
MIRT824164	hsa-miR-381	CLIP-seq
MIRT824165	hsa-miR-3941	CLIP-seq
MIRT824166	hsa-miR-3973	CLIP-seq
MIRT824167	hsa-miR-4255	CLIP-seq
MIRT824168	hsa-miR-4452	CLIP-seq
MIRT824169	hsa-miR-4480	CLIP-seq
MIRT824170	hsa-miR-455-5p	CLIP-seq
MIRT824171	hsa-miR-4666-3p	CLIP-seq
MIRT824172	hsa-miR-4668-3p	CLIP-seq
MIRT824173	hsa-miR-4729	CLIP-seq
MIRT824174	hsa-miR-4789-5p	CLIP-seq
MIRT824175	hsa-miR-520g	CLIP-seq
MIRT824176	hsa-miR-520h	CLIP-seq
MIRT824177	hsa-miR-548k	CLIP-seq
MIRT824178	hsa-miR-550a	CLIP-seq
MIRT824179	hsa-miR-561	CLIP-seq
MIRT824180	hsa-miR-568	CLIP-seq
MIRT824181	hsa-miR-586	CLIP-seq
MIRT824182	hsa-miR-590-5p	CLIP-seq
MIRT824183	hsa-miR-603	CLIP-seq
MIRT824184	hsa-miR-767-3p	CLIP-seq
MIRT824155	hsa-miR-1972	CLIP-seq
MIRT824158	hsa-miR-300	CLIP-seq
MIRT824160	hsa-miR-329	CLIP-seq
MIRT824162	hsa-miR-362-3p	CLIP-seq
MIRT824164	hsa-miR-381	CLIP-seq
MIRT824165	hsa-miR-3941	CLIP-seq
MIRT824166	hsa-miR-3973	CLIP-seq
MIRT824171	hsa-miR-4666-3p	CLIP-seq
MIRT824173	hsa-miR-4729	CLIP-seq
MIRT824174	hsa-miR-4789-5p	CLIP-seq
MIRT824175	hsa-miR-520g	CLIP-seq
MIRT824176	hsa-miR-520h	CLIP-seq
MIRT824177	hsa-miR-548k	CLIP-seq
MIRT824181	hsa-miR-586	CLIP-seq
MIRT824183	hsa-miR-603	CLIP-seq
MIRT2182303	hsa-miR-122	CLIP-seq
MIRT824154	hsa-miR-150	CLIP-seq
MIRT824157	hsa-miR-21	CLIP-seq
MIRT824159	hsa-miR-3163	CLIP-seq
MIRT2182304	hsa-miR-340	CLIP-seq
MIRT2182305	hsa-miR-3659	CLIP-seq
MIRT2182306	hsa-miR-3667-5p	CLIP-seq
MIRT824166	hsa-miR-3973	CLIP-seq
MIRT2182307	hsa-miR-4289	CLIP-seq
MIRT824169	hsa-miR-4480	CLIP-seq
MIRT824172	hsa-miR-4668-3p	CLIP-seq
MIRT824175	hsa-miR-520g	CLIP-seq
MIRT824176	hsa-miR-520h	CLIP-seq
MIRT824177	hsa-miR-548k	CLIP-seq
MIRT824182	hsa-miR-590-5p	CLIP-seq
MIRT824184	hsa-miR-767-3p	CLIP-seq
MIRT824152	hsa-miR-1273f	CLIP-seq
MIRT2486001	hsa-miR-3124-3p	CLIP-seq
MIRT2486002	hsa-miR-3692	CLIP-seq
MIRT2486003	hsa-miR-384	CLIP-seq
MIRT824166	hsa-miR-3973	CLIP-seq
MIRT2486004	hsa-miR-4643	CLIP-seq
MIRT2486005	hsa-miR-466	CLIP-seq
MIRT2486006	hsa-miR-4672	CLIP-seq
MIRT2486007	hsa-miR-4698	CLIP-seq
MIRT2486008	hsa-miR-4713-5p	CLIP-seq
MIRT2486009	hsa-miR-4789-3p	CLIP-seq
MIRT824177	hsa-miR-548k	CLIP-seq
MIRT2486010	hsa-miR-616	CLIP-seq
MIRT824152	hsa-miR-1273f	CLIP-seq
MIRT2676034	hsa-miR-1587	CLIP-seq
MIRT2486001	hsa-miR-3124-3p	CLIP-seq
MIRT2486002	hsa-miR-3692	CLIP-seq
MIRT2676035	hsa-miR-378g	CLIP-seq
MIRT824166	hsa-miR-3973	CLIP-seq
MIRT2676036	hsa-miR-4286	CLIP-seq
MIRT2676037	hsa-miR-4492	CLIP-seq
MIRT2676038	hsa-miR-4498	CLIP-seq
MIRT2676039	hsa-miR-4656	CLIP-seq
MIRT2486006	hsa-miR-4672	CLIP-seq
MIRT2676040	hsa-miR-4675	CLIP-seq
MIRT2486007	hsa-miR-4698	CLIP-seq
MIRT2486008	hsa-miR-4713-5p	CLIP-seq
MIRT2676041	hsa-miR-4741	CLIP-seq
MIRT2676042	hsa-miR-521	CLIP-seq
MIRT824177	hsa-miR-548k	CLIP-seq
MIRT2676043	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27142060, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	10602503, 21880731, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	21753189
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	TAS	10602503
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030425	Component	Dendrite	IEA
GO:0035902	Process	Response to immobilization stress	IEA
GO:0036408	Function	Histone H3K14 acetyltransferase activity	IDA	16387653
GO:0036409	Component	Histone H3-K14 acetyltransferase complex	IDA	21753189
GO:0036409	Component	Histone H3-K14 acetyltransferase complex	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043249	Process	Erythrocyte maturation	IEA
GO:0043995	Function	Histone H4K5 acetyltransferase activity	IDA	16387653
GO:0043996	Function	Histone H4K8 acetyltransferase activity	IDA	16387653
GO:0043997	Function	Histone H4K12 acetyltransferase activity	IDA	16387653
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IEA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050793	Process	Regulation of developmental process	NAS	16387653
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IBA
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IDA	16387653
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IEA
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	ISS
GO:0140063	Function	Unmodified histone reader activity	IDA	21880731
GO:0140566	Function	Histone reader activity	IEA
GO:0140566	Function	Histone reader activity	ISS
GO:1903706	Process	Regulation of hemopoiesis	NAS	16387653

Other IDs

• MIM: 604589
• HGNC: 1102
• e!Ensembl: ENSG00000100425

Protein

• UniProt ID: O95696
• Protein name: Bromodomain-containing protein 1 (BR140-like protein) (Bromodomain and PHD finger-containing protein 2)
• Protein function: Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, that acts as a regulator of hematopoiesis (PubMed:16387653, PubMed:21753189, PubMed:21880731). Plays a key role in HBO1 complex by di
• PDB: 2KU3, 2L43, 2LQ6, 3LYI, 3RCW, 4Z02, 5AME, 5AMF, 5FG6, 5GK9, 5N49, 5PNX, 5PNY, 5PNZ, 5PO0, 5PO1, 5PO2, 5PO3, 5PO4, 5PO5, 5PO6, 5PO7, 5PO8, 5PO9, 5POA, 5POB, 5POC, 5POD, 5POE, 5POF, 5POG, 5POH, 5POI, 5POJ, 5POK, 5POL, 5POM, 5PON, 5POO, 5POP, 5POQ, 5POR, 5POS, 5POT, 5POU, 5POV, 5POW, 5POX, 5POY, 5POZ, 5PP0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10513	EPL1	47 → 196	Enhancer of polycomb-like	Family
  PF13831	PHD_2	228 → 262		Family
  PF13832	zf-HC5HC2H_2	269 → 388		Domain
  PF00439	Bromodomain	571 → 654	Bromodomain	Domain
  PF00855	PWWP	927 → 1044	PWWP domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:10602503}.
• Sequence:

  MRRKGRCHRGSAARHPSSPCSVKHSPTRETLTYAQAQRMVEIEIEGRLHRISIFDPLEII
  LEDDLTAQEMSECNSNKENSERPPVCLRTKRHKNNRVKKKNEALPSAHGTPASASALPEP
  KVRIVEYSPPSAPRRPPVYYKFIEKSAEELDNEVEYDMDEEDYAWLEIVNEKRKGDCVPA
  VSQSMFEFLMDRFEKESHCENQKQGEQQSLIDEDAVCCICMDGECQNSNVILFCDMCNLA
  VHQECYGVPYIPEGQWLCRHCLQSRARPADCVLCPNKGGAFKKTDDDRWGHVVCALWIPE
  VGFANTVFIEPIDGVRNIPPARWKLTCYLCKQKGVGACIQCHKANCYTAFHVTCAQKAGL
  YMKMEPVKELTGGGTTFSVRKTAYCDVHTPPGCTRRPLNIYGDVEMKNGVCRKESSVKTV
  RSTSKVRKKAKKAKKALAEPCAVLPTVCAPYIPPQRLNRIANQVAIQRKKQFVERAHSYW
  LLKRLSRNGAPLLRRLQSSLQSQRSSQQRENDEEMKAAKEKLKYWQRLRHDLERARLLIE
  LLRKREKLKREQVKVEQVAMELRLTPLTVLLRSVLDQLQDKDPARIFAQPVSLKEVPDYL
  DHIKHPMDFATMRKRLEAQGYKNLHEFEEDFDLIIDNCMKYNARDTVFYRAAVRLRDQGG
  VVLRQARREVDSIGLEEASGMHLPERPAAAPRRPFSWEDVDRLLDPANRAHLGLEEQLRE
  LLDMLDLTCAMKSSGSRSKRAKLLKKEIALLRNKLSQQHSQPLPTGPGLEGFEEDGAALG
  PEAGEEVLPRLETLLQPRKRSRSTCGDSEVEEESPGKRLDAGLTNGFGGARSEQEPGGGL
  GRKATPRRRCASESSISSSNSPLCDSSFNAPKCGRGKPALVRRHTLEDRSELISCIENGN
  YAKAARIAAEVGQSSMWISTDAAASVLEPLKVVWAKCSGYPSYPALIIDPKMPRVPGHHN
  GVTIPAPPLDVLKIGEHMQTKSDEKLFLVLFFDNKRSWQWLPKSKMVPLGIDETIDKLKM
  MEGRNSSIRKAVRIAFDRAMNHLSRVHGEPTSDLSDID

• Sequence length: 1058

Pathways

Reactome:

HATs acetylate histones
Regulation of TP53 Activity through Acetylation

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	25920810, 31851932		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	38346666	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30042400	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31161729		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	16924267, 19693800, 19763615, 27142060, 28095495, 30590179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16924267, 19693800, 19763615, 22341945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	27142060, 28095495	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis	Blepharophimosis	BEFREE	31020800		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	27939639		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	16924267, 19693800		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27556298, 28506208		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19644018, 31015424	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	16924267, 19693800		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29453316, 35822928, 38072045	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27838886		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	31851932		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	32241273	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28341151		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34482774	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	31176769		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23861938		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	27939639, 27939640		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	31020800, 38346666	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	BEFREE	31176769		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30212593		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30632134		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23861938		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23894329		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	31176769		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28341151		★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS	Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	UNIPROT_DG	27939639, 27939640		★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS	Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	GENOMICS_ENGLAND_DG	27939640		★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS	Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	BEFREE	31176769		★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS	Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS	Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27939639, 27939640, 31020800, 31176769, 31213987		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27939639, 31020800, 33157260, 38346666	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	BEFREE	31749592		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	29550470		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	38346666	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	2722973		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	2722973		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	16924267, 19693800, 19763615		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	16924267, 19693800, 19763615		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	16924267, 19693800, 19763615		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	16924267, 19693800, 19763615		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	16924267, 19693800, 19763615		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	16924267, 19693800, 19763615		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	16924267, 19693800, 19763615		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30408638		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	24916674		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27556298, 28506208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27838886		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27556298, 31587361, 31652778		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	31851932		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	19763615, 27142060, 30590179		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Dominant 1	Intellectual developmental disorder	Pubtator	33157260	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	33418956	Associate	★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35941107	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30192132		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36937804	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27838886		★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	36963804	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	27142060		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	27939639		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36937804	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	2476983		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30042400		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16924267, 19693800, 19763615, 19908236, 27142060, 27837920, 28095495, 28341151, 29794561, 30590179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16924267, 19693800, 19763615, 19908236, 22341945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	23894747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	23894747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	27142060, 28095495	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	29550470, 31264285		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	33407854, 35328081, 38002941	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40583060	Associate	★☆☆☆☆ Found in Text Mining only