EP300 - E1A binding protein p300 Gene

Also Known as p300; KAT3B; MKHK2; RSTS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2033

About EP300

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,092,592-41,180,077 (from NCBI)

This gene has 14 transcripts (splice variants), 286 orthologues, 1 paralogue and is associated with 165 phenotypes. Ubiquitous expression in bone marrow (RPKM 27.3), testis (RPKM 17.5) and 25 other tissues.

Summary

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as Histone Acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial Cancer. [provided by RefSeq, Jul 2008]

EP300 Products (2)

mRNA	Protein	Name
NM_001362843.2	NP_001349772.1	histone acetyltransferase p300 isoform 2
NM_001429.4	NP_001420.2	histone acetyltransferase p300 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	9194565	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	15261140	GOA
enables NF-kappaB binding	IPI IPI: Inferred from physical interaction	23811396	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	20018936	GOA
enables STAT family protein binding	IPI IPI: Inferred from physical interaction	26479788	GOA
enables acetylation-dependent protein binding	IDA IDA: Inferred from direct assay	18782771	GOA
enables acetyltransferase activity	EXP EXP: Inferred from Experiment	12456660	GOA
enables acetyltransferase activity	IDA IDA: Inferred from direct assay	18722353	GOA
enables acetyltransferase activity	IMP IMP: Inferred from mutant phenotype	12435739	GOA
enables acyltransferase activity	IDA IDA: Inferred from direct assay	17403783	GOA
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	12408825	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	24939902	GOA
enables chromatin binding	IMP IMP: Inferred from mutant phenotype	17641689	GOA
enables damaged DNA binding	IDA IDA: Inferred from direct assay	24939902	GOA
enables histone H2B acetyltransferase activity	IDA IDA: Inferred from direct assay	10821277	GOA
enables histone H3 acetyltransferase activity	IDA IDA: Inferred from direct assay	12609999	GOA
enables histone H3K122 acetyltransferase activity	IDA IDA: Inferred from direct assay	23415232	GOA
enables histone H3K18 acetyltransferase activity	IDA IDA: Inferred from direct assay	21131905	GOA
enables histone H3K27 acetyltransferase activity	IDA IDA: Inferred from direct assay	21131905	GOA
enables histone H3K27 acetyltransferase activity	IMP IMP: Inferred from mutant phenotype	32691935	GOA
enables histone H4 acetyltransferase activity	IDA IDA: Inferred from direct assay	10821277	GOA
enables histone H4 acetyltransferase activity	IMP IMP: Inferred from mutant phenotype	16325578	GOA
enables histone acetyltransferase activity	IDA IDA: Inferred from direct assay	12040021	GOA
enables histone crotonyltransferase activity	IDA IDA: Inferred from direct assay	25818647	GOA
enables histone lactyltransferase (CoA-dependent) activity	IDA IDA: Inferred from direct assay	31645732	GOA
enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor	IDA IDA: Inferred from direct assay	20019387	GOA
enables nuclear androgen receptor binding	IPI IPI: Inferred from physical interaction	18487222	GOA
enables nuclear receptor binding	IPI IPI: Inferred from physical interaction	9862959	GOA
enables peptide butyryltransferase activity	IDA IDA: Inferred from direct assay	17267393	GOA
enables peptide-lysine-N-acetyltransferase activity	IDA IDA: Inferred from direct assay	15653507	GOA
enables protein binding	IDA IDA: Inferred from direct assay	17150957	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1331501	GOA
enables protein propionyltransferase activity	IDA IDA: Inferred from direct assay	17267393	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	10518217	GOA
enables transcription coactivator activity	IMP IMP: Inferred from mutant phenotype	11349124	GOA
enables transcription coactivator activity	IPI IPI: Inferred from physical interaction	23811396	GOA
enables transcription coactivator binding	IPI IPI: Inferred from physical interaction	11349124	GOA
enables transcription coregulator binding	IPI IPI: Inferred from physical interaction	8684459	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in N-terminal peptidyl-lysine acetylation	IDA IDA: Inferred from direct assay	12435739	GOA
involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	9194565	GOA
involved in canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	23811396	GOA
involved in cellular response to L-leucine	IDA IDA: Inferred from direct assay	30197302	GOA
involved in cellular response to UV	IDA IDA: Inferred from direct assay	24939902	GOA
involved in cellular response to nutrient levels	IDA IDA: Inferred from direct assay	32561715	GOA
involved in internal peptidyl-lysine acetylation	IDA IDA: Inferred from direct assay	17403783	GOA
involved in internal protein amino acid acetylation	IDA IDA: Inferred from direct assay	18722353	GOA
involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA IDA: Inferred from direct assay	17403783	GOA
involved in negative regulation of autophagy	IDA IDA: Inferred from direct assay	32561715	GOA
involved in negative regulation of gluconeogenesis	IDA IDA: Inferred from direct assay	30193097	GOA
involved in negative regulation of protein-containing complex assembly	IDA IDA: Inferred from direct assay	23962722	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10733570	GOA
involved in peptidyl-lysine acetylation	IDA IDA: Inferred from direct assay	23962722	GOA
involved in peptidyl-lysine butyrylation	IDA IDA: Inferred from direct assay	17267393	GOA
involved in peptidyl-lysine crotonylation	IDA IDA: Inferred from direct assay	25818647	GOA
involved in peptidyl-lysine propionylation	IDA IDA: Inferred from direct assay	17267393	GOA
involved in positive regulation by host of viral transcription	IDA IDA: Inferred from direct assay	16687403	GOA
involved in positive regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	25818647	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15261140	GOA
involved in positive regulation of T-helper 17 cell lineage commitment	IDA IDA: Inferred from direct assay	28262505	GOA
involved in positive regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	30197302	GOA
involved in positive regulation of neuron projection development	IDA IDA: Inferred from direct assay	27256286	GOA
involved in positive regulation of protein import into nucleus	IDA IDA: Inferred from direct assay	24120661	GOA
involved in positive regulation of receptor signaling pathway via JAK-STAT	IDA IDA: Inferred from direct assay	16257975	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12586840	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	16325578	GOA
involved in positive regulation of transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	25514493	GOA
involved in protein acetylation	IDA IDA: Inferred from direct assay	21030595	GOA
involved in protein destabilization	IMP IMP: Inferred from mutant phenotype	24939902	GOA
involved in regulation of androgen receptor signaling pathway	IDA IDA: Inferred from direct assay	18487222	GOA
involved in regulation of glycolytic process	IDA IDA: Inferred from direct assay	29775581	GOA
involved in regulation of tubulin deacetylation	IDA IDA: Inferred from direct assay	18722353	GOA
involved in response to estrogen	IDA IDA: Inferred from direct assay	11581164	GOA
involved in response to hypoxia	IDA IDA: Inferred from direct assay	9887100	GOA
involved in transcription initiation-coupled chromatin remodeling	IDA IDA: Inferred from direct assay	25818647	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	21084751	GOA
is active in cytoplasm	IDA IDA: Inferred from direct assay	12929931	GOA
is active in cytosol	IDA IDA: Inferred from direct assay	12929931	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9194565	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EP300 Protein Structure

zf-TAZ

KIX

Bromodomain

DUF902

HAT_KAT11

zf-TAZ

Creb_binding

0
400
800
1200
1600
2000
2414 a.a.

Protein Preferred Names	Protein Names
histone acetyltransferase p300	E1A-associated protein p300 E1A-binding protein, 300kD histone butyryltransferase p300 histone crotonyltransferase p300 p300 HAT protein 2-hydroxyisobutyryltransferase p300 protein lactyltransferas p300 protein propionyltransferase p300

EP300 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EP300	Q09472	SNAI1	Homo sapiens	O95863	Acetylase Assay	25314079
Intra	EP300	Q09472	APEX1	Homo sapiens	P27695	Anti Bait CoIP	20808282
Intra	EP300	Q09472	APEX1	Homo sapiens	P27695	Anti Tag CoIP	20856196
Intra	EP300	Q09472	COPS2	Homo sapiens	P61201	Pull Down	23441852
Intra	EP300	Q09472	PPP1R13B	Homo sapiens	Q96KQ4	Anti Bait CoIP	21513714
Cross	EP300	Q09472	BICP0	Bovine herpesvirus 1	K4P3M7	Anti Bait CoIP	16760386
Intra	EP300	Q09472	POU3F2	Homo sapiens	P20265	Anti Bait CoIP	11029584
Intra	EP300	Q09472	STAT6	Homo sapiens	P42226	Anti Bait CoIP	23461825
Intra	EP300	Q09472	SIRT1	Homo sapiens	Q96EB6	Anti Tag CoIP	15632193
Intra	EP300	Q09472	SIRT1	Homo sapiens	Q96EB6	CH-IP	20660480
Intra	EP300	Q09472	CREB1	Homo sapiens	P16220-1	Anti Bait CoIP	17476304
Intra	EP300	Q09472	VDR	Homo sapiens	P11473	Anti Bait CoIP	20089040
Cross	EP300	Q09472	Hif1a	Mus musculus	Q61221	Pull Down	20609350
Intra	EP300	Q09472	TFAP2A	Homo sapiens	P05549	Y2H	12586840
Intra	EP300	Q09472	TFAP2A	Homo sapiens	P05549	Anti Tag CoIP	12586840
Intra	EP300	Q09472	HIPK2	Homo sapiens	Q9H2X6	Anti Tag CoIP	16917507
Intra	EP300	Q09472	HIPK2	Homo sapiens	Q9H2X6	Protein Kinase Assay	16917507
Intra	EP300	Q09472	DDX5	Homo sapiens	P17844	Anti Tag CoIP	12527917
Intra	EP300	Q09472	YBX1	Homo sapiens	P67809	Anti Tag CoIP	20856196
Intra	EP300	Q09472	NAP1L1	Homo sapiens	P55209	Anti Bait CoIP	11940655
Intra	EP300	Q09472	TP53	Homo sapiens	P04637	Anti Bait CoIP	21471221
Intra	EP300	Q09472	TP53	Homo sapiens	P04637	Anti Bait CoIP	26302407
Intra	EP300	Q09472	TP53	Homo sapiens	P04637	Acetylase Assay	18485870
Intra	EP300	Q09472	TP53	Homo sapiens	P04637	Anti Tag CoIP	19234109
Intra	EP300	Q09472	TP53	Homo sapiens	P04637	Anti Bait CoIP	17906639
Intra	EP300	Q09472	TP53	Homo sapiens	P04637	Anti Bait CoIP	15542844
Intra	EP300	Q09472	TP53	Homo sapiens	P04637	Anti Bait CoIP	10518217
Intra	EP300	Q09472	CDK2	Homo sapiens	P24941	Pull Down	10330164
Intra	EP300	Q09472	CDK2	Homo sapiens	P24941	Anti Bait CoIP	10330164
Intra	EP300	Q09472	GTF2B	Homo sapiens	Q00403	Pull Down	10330164
Intra	EP300	Q09472	TP73	Homo sapiens	O15350	Experimental Interac	11804596
Intra	EP300	Q09472	TBX21	Homo sapiens	Q9UL17	Anti Bait CoIP	17075044
Intra	EP300	Q09472	FUS	Homo sapiens	P35637	Anti Bait CoIP	18509338
Intra	EP300	Q09472	HIF1A	Homo sapiens	Q16665	Anti Tag CoIP	24421387
Intra	EP300	Q09472	HIF1A	Homo sapiens	Q16665	Pull Down	20603618
Intra	EP300	Q09472	HIF1A	Homo sapiens	Q16665	Pull Down	15261140
Intra	EP300	Q09472	HIF1A	Homo sapiens	Q16665	Anti Bait CoIP	19680224
Intra	EP300	Q09472	HIF1A	Homo sapiens	Q16665	Competition Binding	17382325
Intra	EP300	Q09472	HIF1A	Homo sapiens	Q16665	Anti Bait CoIP	15261140
Intra	EP300	Q09472	HIF1A	Homo sapiens	Q16665	Y2H	15261140
Intra	EP300	Q09472	SKP2	Homo sapiens	Q13309	Anti Tag CoIP	22770219
Intra	EP300	Q09472	KAT2B	Homo sapiens	Q92831	Pull Down	8684459
Intra	EP300	Q09472	KAT2B	Homo sapiens	Q92831	Anti Bait CoIP	8684459
Intra	EP300	Q09472	NBN	Homo sapiens	O60934	Anti Tag CoIP	21108945
Intra	EP300	Q09472	NBN	Homo sapiens	O60934	Y2H	21108945
Intra	EP300	Q09472	NBN	Homo sapiens	O60934	Anti Bait CoIP	21108945
Intra	EP300	Q09472	NBN	Homo sapiens	O60934	IF	21108945
Intra	EP300	Q09472	ASH2L	Homo sapiens	Q9UBL3	Anti Tag CoIP	23870121
Intra	EP300	Q09472	ASH2L	Homo sapiens	Q9UBL3	Anti Bait CoIP	23870121
Intra	EP300	Q09472	PPP1R13L	Homo sapiens	Q8WUF5	Anti Bait CoIP	21513714
Cross	EP300	Q09472	E2	Human papillomavirus	P06790	Y2H	10702269
Cross	EP300	Q09472	E2	Human papillomavirus	P06790	Pull Down	12368347
Cross	EP300	Q09472	E2	Bovine papillomavirus	P03122	Pull Down	12368347
Intra	EP300	Q09472	BRD7	Homo sapiens	Q9NPI1	Anti Tag CoIP	20228809
Cross	EP300	Q09472	E2	Human papillomavirus	P06422	Pull Down	12368347
Intra	EP300	Q09472	EWSR1	Homo sapiens	Q01844	Pull Down	18509338
Intra	EP300	Q09472	TCL1A	Homo sapiens	P56279	Anti Tag CoIP	19064921
Intra	EP300	Q09472	TCL1A	Homo sapiens	P56279	Anti Bait CoIP	19064921
Intra	EP300	Q09472	ALKBH4	Homo sapiens	Q9NXW9	Y2H	23145062
Intra	EP300	Q09472	ALKBH4	Homo sapiens	Q9NXW9	Confocal	23145062
Cross	EP300	Q09472	Jmy	Mus musculus	Q9QXM1	Pull Down	10518217
Cross	EP300	Q09472	Jmy	Mus musculus	Q9QXM1	Anti Tag CoIP	10518217
Cross	EP300	Q09472	Jmy	Mus musculus	Q9QXM1	Y2H	10518217
Intra	EP300	Q09472	RUNX3	Homo sapiens	Q13761	Anti Tag CoIP	24229708
Intra	EP300	Q09472	CITED2	Homo sapiens	Q99967	Anti Tag CoIP	12586840
Intra	EP300	Q09472	CITED2	Homo sapiens	Q99967	Y2H	12586840
Cross	EP300	Q09472	e1a_ade05	Human adenovirus C	P03255	Anti Bait CoIP	12743606
Cross	EP300	Q09472	e1a_ade05	Human adenovirus C	P03255	Pull Down	10330164
Cross	EP300	Q09472	tat	Human immunodeficiency virus	P04608	Pull Down	9811832
Cross	EP300	Q09472	p03255-2	Human adenovirus C	P03255-2	Anti Bait CoIP	12743606
Cross	EP300	Q09472	p03255-2	Human adenovirus C	P03255-2	Pull Down	10330164

Cross: Cross-species interaction Intra: Intraspecies interaction

EP300 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80775	p300 Antibody	ICC/IF, WB, IHC-F, IHC-P, ELISA	Human, Mouse, Rat
HY-P85861	p300 Antibody (YA5553)	WB, ICC/IF, ELISA	Human, Mouse,

Related Diseases

Diseases	Alias
Rhabdomyosarcoma
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Rubinstein-Taybi Syndrome 2	Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency RSTS2 Rubinstein-Taybi Syndrome, Type 2
Epidermodysplasia Verruciformis 1	Epidermodysplasia Verruciformis Epidermodysplasia Verruciformis, Susceptibility To, 1 Lutz-Lewandowsky Epidermodysplasia Verruciformis EV1 Lewandowsky-Lutz Syndrome Ev
T-Cell Acute Lymphoblastic Leukemia	T-Cell Leukemia Acute T Cell Leukemia Precursor T Lymphoblastic Leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia T Acute Lymphoblastic Leukemia T-Cell Acute Lymphocytic Leukaemia T-Cell Lymphoblastic Leukemia/Lymphoma Leukemia T-Cell Leukemia, T-Cell Leukemia, Acute, Lymphoblastic, T-Cell Leukemia, T-Cell Acute Lymphoblastic Leukemia, Acute T-Cell Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Precursor T-Cell Lymphoblastic Lymphoma Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma
Myeloid Leukemia	Myeloid Leukaemia Leukaemia Myelogenous Leukemia Myelogenous Myeloid Granulocytic Leukaemia Myeloid Granulocytic Leukemia Non-Lymphocytic Leukemia Leukemia, Myeloid Granulocytic Leukaemia Myelogenous Leukaemia Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Hyperinsulinism	Hyperinsulinemia
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Leukemia, Myeloid, Acute Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Squamous Cell Carcinoma, Head And Neck	Squamous Cell Carcinoma Of The Head And Neck HNSCC Head And Neck Squamous Cell Carcinoma Head And Neck Cancer Squamous Cell Carcinoma Of Lip Squamous Cell Carcinoma, Head And Neck, Somatic Carcinoma Of The Head And Neck Squamous Cell Carcinomas Of Head And Neck Scchn Squamous Cell Carcinoma Of The Hypopharynx Squamous Cell Carcinoma Of The Oropharynx Squamous Cell Carcinoma Of Salivary Glands Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses Squamous Cell Carcinoma Of The Oral Cavity Squamous Cell Carcinoma Of The Lip Carcinoma, Squamous Cell Of Head And Neck Lip Squamous Cell Carcinoma Cancer, Head/Neck Carcinoma, Squamous Cell, Head And Neck Salivary Gland Squamous Cell Carcinoma Cancer Of Head And Neck Squamous Cell Carcinoma Of Oropharynx Nos
Intellectual Developmental Disorder, Autosomal Dominant 4	MRD4 Autosomal Dominant Non-Syndromic Intellectual Disability 4 Mental Retardation, Autosomal Dominant 4 Autosomal Dominant Intellectual Developmental Disorder 4
Retinal Degeneration	Degeneration Of Retina
Prion Disease	Spongiform Encephalopathy Transmissible Spongiform Encephalopathies Prion Diseases Prion Disease Pathway Transmissible Spongiform Encephalopathy Prion Induced Disorder Prion Protein Disease Inherited Human Transmissible Spongiform Encephalopathies Prion Protein Diseases Prion-Associated Disorders Prion-Induced Disorders Transmissible Dementias Tses Human Prion Disease Tse Encephalopathy, Transmissible Spongiform Prion Disease, Susceptibility To Spongiform Encephalopathies Human Transmissible Spongiform Encephalopathies, Inherited
Autosomal Dominant Intellectual Developmental Disorder 31	Autosomal Dominant Non-Syndromic Intellectual Disability 31 Autosomal Dominant Mental Retardation 31 Mrd31 Mental Retardation, Autosomal Dominant, Type 31
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Klippel-Feil Syndrome 4
Retinoblastoma	RB Trilateral Retinoblastoma RB1 Retinoblastoma, Trilateral Neuroblastoma Of Retina Rb - Retinoblastoma Eye Cancer, Retinoblastoma Retinal Cancer Retinal Tumor Glioma, Retinal Non-Hereditary Retinoblastoma Childhood Cancer Retinoblastoma Malignant Neoplasm Of Retina Retinal Neoplasms
Breast Cancer	Breast Carcinoma Breast Cancer, Familial Malignant Neoplasm Of Breast Male Breast Cancer Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Autosomal Dominant Intellectual Developmental Disorder 19	Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Mental Retardation 19 Mrd19
Rubinstein-Taybi Syndrome 1	Broad Thumb-Hallux Syndrome Rubinstein-Taybi Syndrome Due To Crebbp Mutations RSTS1 Rsts Rubinstein Syndrome Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation Rubinstein-Taybi Syndrome, Type 1 Rubinstein-Taybi Syndrome
Cornelia De Lange Syndrome 2	CDLS2 Cornelia De Lange Syndrome, X-Linked Cdls, X-Linked Cornelia De Lange Syndrome X-Linked Cornelia De Lange Syndrome, Type 2 Congenital Muscular Hypertrophy-Cerebral Syndrome
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Desmoplastic/Nodular Medulloblastoma Medulloblastoma With Extensive Nodularity Desmoplastic Medulloblastoma Medulloblastoma, Somatic Medulloblastoma, Desmoplastic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Mben Medulloblastoma Desmoplastic Neuroectodermal Tumors, Primitive Medulloblastomas Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Uterine Corpus Endometrial Carcinoma
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic
Fibrosarcoma	Neoplasms, Fibrous Tissue Fibrocytic Tumor Fibrosarcoma Of Soft Tissue Fibrous Tissue Neoplasm
Chromosome 16p13.3 Deletion Syndrome, Proximal	Rubinstein-Taybi Syndrome Broad Thumb-Hallux Syndrome Chromosome 16p13.3 Deletion Syndrome Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion Rubinstein Syndrome Broad Thumbs-Halluces Syndrome Rsts Rubinstein-Taybi Deletion Syndrome Rsts Deletion Syndrome Proximal Chromosome 16p13.3 Deletion Syndrome 16p13.3 Deletion Syndrome Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation Rts
Bladder Urothelial Carcinoma	Bladder Transitional Cell Carcinoma Transitional Cell Carcinoma Of Bladder Transitional Cell Carcinoma Of The Bladder Urinary Bladder Urothelial Carcinoma Urothelial Bladder Carcinoma Carcinoma Transitional Cell Bladder Tcc - [Transitional Cell Carcinoma] Of Bladder
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Bartholin'S Gland Adenoid Cystic Carcinoma	Bartholin Gland Adenoid Cystic Carcinoma
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma Primitive Neuroectodermal Tumor ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Ewing Family Of Tumors Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Cervical Squamous Cell Carcinoma	Squamous Cell Carcinoma Of The Cervix Uteri Squamous Cell Carcinoma Of Cervix
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Diabetes Mellitus	Diabetes
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Diabetes Mellitus, Non-Insulin-Dependent Type 2 Diabetes T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Otopalatodigital Syndrome Spectrum Disorder	Opd Spectrum Disorder Opsd Fronto-Otopalatodigital Osteodysplasia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Otopalatodigital Syndrome, Type I	Otopalatodigital Syndrome Type 1 Taybi Syndrome OPD1 Opd Syndrome 1 Oto-Palato-Digital Syndrome Type 1 Opd I Syndrome Oto-Palato-Digital Syndrome, Type I Otopalatodigital Syndrome Type I Opd Syndrome Cranioorodigital Syndrome Faciopalatoosseous Syndrome Fpo Opd Syndrome, Type 1 Otopalatodigital Syndrome 1
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Esophagus Carcinoma In Situ	Carcinoma In Situ Of Esophagus Carcinoma In Situ Of Oesophagus Oesophagus Carcinoma In Situ Severe Esophageal Dysplasia Stage 0 Carcinoma Of The Esophagus Stage 0 Carcinoma Of The Oesophagus Severe Oesophageal Dysplasia
Adult T-Cell Leukemia/Lymphoma	Adult T-Cell Leukemia Atll Adult T-Cell Leukaemia Adult T-Cell Leukaemia/Lymphoma Adult T-Cell Lymphoma T Cell Leukemia Lymphoma Adult Leukemia-Lymphoma, Adult T-Cell Leukemia, T-Cell Adult T-Cell Lymphoma/Leukemia
Cervical Cancer	Cervical Cancer, Somatic Neoplasm Of Uterine Cervix Cervix Cancer Uterine Cervical Neoplasm Cervical Neoplasm Cervix Uteri Cancer Tumor Of The Cervix Uteri CERCA Uterine Cervical Cancer Neoplasms Cervical Uterine Cervical Neoplasms Cervical Cancers Cancer, Cervical, Somatic Malignant Tumor Of Cervix Cervix Carcinoma
Leukemia, Acute Monocytic	Acute Monocytic Leukemia Acute Monoblastic Leukemia And Acute Monocytic Leukemia Acute Monocytic Leukaemia Acute Monocytic Leukaemia Without Mention Of Remission Acute Monocytic Leukemia Without Mention Of Remission Acute Monocytic Leukemia, Fab M5 Acute Monocytic Leukemia, Morphology Leukemia, Monocytic, Acute M5b Acute Differentiated Monocytic Leukemia
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Endocervical Adenocarcinoma	Endocervical Carcinoma
Polydactyly, Postaxial, Type A1	Postaxial Polydactyly Type A Polydactyly, Postaxial Postaxial Polydactyly PAPA1 Postaxial Polydactyly, Type A Papa Polydactyly, Postaxial, Types A1 And B Postaxial Polydactyly Type B Polydactyly Postaxial Polydactyly, Postaxial A1 Polydactyly, Postaxial B PAPB Postaxial Polydactyly, Type A1/B Polydactyly, Postaxial, Type A Pyogenic Arthritis, Pyoderma Gangrenosum And Acne Postaxial Polydactyly, Type B
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Rare Genetic Intellectual Disability
Chromosomal Deletion Syndrome
Flying Phobia
B-Cell Lymphoma	Lymphoma, B-Cell B-Cell Lymphomas B-Cell Lymphocytic Neoplasm Lymphoma B-Cell B-Cell Lymphoma Nos
Menke-Hennekam Syndrome 2	MKHK2
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Spinocerebellar Ataxia, Autosomal Recessive 17	Autosomal Recessive Spinocerebellar Ataxia 17 SCAR17 Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 17 Spinocerebellar Ataxia, Autosomal Recessive, 17 Ataxia, Spinocerebellar, Autosomal Recessive, Type 17
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Nut Midline Carcinoma	Nuclear Protein In Testis Midline Carcinoma Nmc
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Hematologic Cancer	Hematologic Neoplasm Hematologic Malignancies Hematologic Neoplasms Blood Cancer Hematologic Malignancy Hematological Tumors Hematopoietic And Lymphoid System Tumor Hematopoietic Cancer Hematopoietic Neoplasm Hematopoietic Tumors Malignant Hematopoietic Neoplasm Liquid Tumor Hematopoietic Neoplasms
Esophageal Cancer	Esophageal Carcinoma Carcinoma Of Esophagus Esophageal Squamous Cell Carcinoma, Somatic Esophageal Carcinoma, Somatic Esophagus Cancer Gastric Cardia Adenocarcinoma Esophageal Neoplasms Esophageal Cancer, Somatic Cancer Of Esophagus Cancer Of Oesophagus Carcinoma Of Oesophagus Ca Lower Third Oesophagus Ca Middle Third Oesophagus Malignant Neoplasm Of Distal Third Of Esophagus Malignant Neoplasm Of Lower Third Of Oesophagus Malignant Neoplasm Of Middle Third Of Oesophagus Malignant Neoplasm Of Proximal Third Of Esophagus Malignant Neoplasm Of Upper Third Esophagus Malignant Tumor Of Abdominal Esophagus Malignant Tumor Of Distal Third Of Esophagus Malignant Tumor Of Proximal Third Of Esophagus Malignant Tumor Of The Middle Third Of The Esophagus ESCR Aerodigestive Tract Cancer Escc Esophageal Squamous Cell Carcinoma Cancer, Esophageal Malignant Neoplasm Of Esophagus Squamous Cell Carcinoma Of Esophagus Malignant Neoplasm Of Middle Third Of Esophagus
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Lung Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Lung Squamous Cell Lung Carcinoma Epidermoid Cell Carcinoma Of The Lung Squamous Cell Lung Cancer
Hennekam Syndrome	Hennekam Lymphangiectasia Lymphedema Syndrome Hennekam Lymphangiectasia-Lymphedema Syndrome Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome Lymphangiectasies And Lymphedema Hennekam Type Generalized Lymphatic Dysplasia Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome
Squamous Cell Carcinoma	Epidermoid Carcinoma Squamous Cell Cancer Carcinoma, Squamous Cell Malignant Squamous Cell Tumor Squamous Carcinoma Squamous Cell Epithelioma Squamous Cell Skin Cancer Carcinoma Squamous Cell Neoplasms, Squamous Cell Squamous Cell Carcinoma - Category Malignant Squamous Cell Neoplasm Squamous Cell Carcinoma Of Skin
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Menke-Hennekam Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Phase
HY-N0005	Curcumin		98.84%	Phase 4
HY-134964	CTB		99.93%	Phase 4
HY-111784	Inobrodib	Inhibitor	99.95%	Phase 2
HY-111422	PLX51107	Inhibitor	99.98%	Phase 2
HY-136938	NEO2734	Inhibitor	99.63%	Phase 1

Pre-clinical Phase

Bioactive Molecules (152)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-107455	A-485	Inhibitor	99.87%	Unkown
HY-13823	C646		99.88%	Unkown
HY-14428	ICG-001		99.86%	Unkown
HY-15826	SGC-CBP30	Inhibitor	99.83%	Unkown
HY-15887	MG 149		99.60%	Unkown
HY-N2020	Anacardic Acid	Inhibitor	98.49%	Unkown
HY-110127	NU9056		98.81%	Unkown
HY-134582	dCBP-1		99.37%	Unkown
HY-107569	Garcinol		98.85%	Unkown
HY-W105310A	Croconic acid disodium		99.98%	Unkown
HY-138536	PROTAC CBP/P300 Degrader-1		99.97%	Unkown
HY-W013274	CPTH2		99.82%	Unkown
HY-124696	PU139	Inhibitor	99.51%	Unkown
HY-116673	TTK21	Activator	99.39%	Unkown
HY-136285	CPI-1612	Inhibitor	99.75%	Unkown
HY-158113	CBPD-409	Degrader	99.38%	Unkown
HY-N0005R	Curcumin (Standard)		98.01%	Unkown
HY-138539	CBP/p300 ligand 2	Ligand	99.39%	Unkown
HY-145765	JQAD1		98.24%	Unkown
HY-124960	CTPB	Activator	≥99.0%	Unkown
HY-100482	CPI-637	Inhibitor	99.94%	Unkown
HY-100726	GNE-272	Inhibitor	99.60%	Unkown
HY-19541	I-CBP112		98.43%	Unkown
HY-154984	JET-209	Degrader	99.27%	Unkown
HY-N2345	Procyanidin B3	Inhibitor	99.92%	Unkown
HY-10593	IQ 1	Modulator	99.13%	Unkown
HY-161369	CBPD-268	Degrader	99.23%	Unkown
HY-P10238	MYBMIM	Inducer	99.96%	Unkown
HY-100671	L002	Inhibitor	99.44%	Unkown
HY-173552	TCIP3	Inhibitor	99.30%	Unkown
HY-100734	Histone Acetyltransferase Inhibitor II	Inhibitor	98.70%	Unkown
HY-152241	DS-9300	Inhibitor	99.83%	Unkown
HY-N0005S	Curcumin-d6		99.78%	Unkown
HY-131035	Lys-CoA TFA	Inhibitor	98.52%	Unkown
HY-101125	L-Moses	Inhibitor	99.97%	Unkown
HY-128876	CBP/p300-IN-3	Inhibitor	98.01%	Unkown
HY-141466A	Crotonyl-CoA tetrasodium	Substrate	97.85%	Unkown
HY-115539	Windorphen	Inhibitor	99.75%	Unkown
HY-17663	KMR-206		98.86%	Unkown
HY-100697	TPOP146	Inhibitor	98.94%	Unkown
HY-111420	CBP/p300-IN-1	Inhibitor	99.71%	Unkown
HY-139108	DCH36_06		99.19%	Unkown
HY-RS04405	EP300 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-147008	XP-524	Inhibitor	98.02%	Unkown
HY-134591	Thalidomide-NH-PEG4-COOH	Inducer	96.65%	Unkown
HY-125847	Salvianolic acid F		99.50%	Unkown
HY-147290	NSC 694623	Inhibitor	99.53%	Unkown
HY-161483	CBP/p300 ligand 3	Inhibitor	98.82%	Unkown
HY-W877997	Pomalidomide 5'-pip-acid		98.06%	Unkown
HY-136920	CBP/p300-IN-8	Inhibitor	98.03%	Unkown
HY-132197	CBP/p300-IN-12	Inhibitor	99.72%	Unkown
HY-120290	PU141	Inhibitor	99.96%	Unkown
HY-139148	UMB298	Inhibitor	99.28%	Unkown
HY-141546	Pocenbrodib	Inhibitor	98.49%	Unkown
HY-134592	Piperidine-GNE-049-N-Boc		98.48%	Unkown
HY-112359	C-82	Inhibitor	99.91%	Yes
HY-146277A	CBP/p300-IN-19 hydrochloride	Inhibitor	99.00%	Unkown
HY-RS04406	Ep300 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-162259	QC-182	Degrader	98.94%	Unkown
HY-128875	CBP/p300-IN-10	Inhibitor	99.74%	Unkown
HY-139707	PROTAC CBP/P300 Degrader-3	Degrader	98.55%	Unkown
HY-110263	EML 425	Inhibitor	98.04%	Unkown
HY-174866	BT-O2C	Inhibitor	99.31%	Unkown
HY-101125A	L-Moses dihydrochloride	Inhibitor	99.38%	Unkown
HY-184124	JZY3032	Inhibitor	/	Unkown
HY-100132	CBP/p300-IN-5	Inhibitor	≥97.0%	Unkown
HY-101125B	D-Moses	Control	/	Unkown
HY-136285A	(R,R)-CPI-1612	Control	99.49%	Unkown
HY-145386	(S,S)-CPI-1612	Control	99.88%	Unkown
HY-147261	B026	Inhibitor	/	Unkown
HY-151812	CBP/p300-IN-20	Inhibitor	98.03%	Unkown
HY-153768	KAT modulator-1	Modulator	98.0%	Unkown
HY-168201	MJP6412	Degrader	95.90%	Unkown
HY-128761	CBP/p300-IN-2	Inhibitor	/	Unkown
HY-134621	P300-IN-1	Inhibitor	/	Unkown
HY-143443	DS17701585	Inhibitor	/	Unkown
HY-W013274A	CPTH2 hydrochloride		/	Unkown
HY-114510	PRMT/HKMT-IN-1		/	Unkown
HY-121009	CCT077791	Inhibitor	/	Unkown
HY-121089	P300-IN-5	Inhibitor	/	Unkown
HY-122081	CPI-644	Inhibitor	/	Unkown
HY-124722	OHM1	Inhibitor	/	Unkown
HY-128362	Ep300/CREBBP-IN-8	Inhibitor	/	Unkown
HY-128363	Ep300/CREBBP-IN-2	Inhibitor	/	Unkown
HY-128364	Ep300/CREBBP-IN-3	Inhibitor	/	Unkown
HY-128367	Ep300/CREBBP-IN-4	Inhibitor	/	Unkown
HY-139804	CTK7A	Inhibitor	/	Unkown
HY-139861	CBP/p300-IN-14	Inhibitor	/	Unkown
HY-143339	CBP/p300-IN-15	Inhibitor	/	Unkown
HY-143440	CBP/p300-IN-16	Inhibitor	/	Unkown
HY-143441	CBP/p300-IN-17	Inhibitor	/	Unkown
HY-143442	CBP/p300-IN-18	Inhibitor	/	Unkown
HY-146277	CBP/p300-IN-19	Inhibitor	/	Unkown
HY-146445	P300 bromodomain-IN-1	Inhibitor	/	Unkown
HY-155229	CBP/p300-IN-21	Inhibitor	/	Unkown
HY-159587	P300-IN-4	Inhibitor	/	Unkown
HY-160261S	EP300/CBP-IN-2	Inhibitor	/	Unkown
HY-161250	Pomalidomide-NH-PEG6-amide-C2-CPI-1612		/	Unkown
HY-161494	XYD190		/	Unkown
HY-161495	CBP/p300 ligand 4		/	Unkown
HY-161498	XYD198		/	Unkown
HY-161710	XYD129	Degrader	/	Unkown
HY-161711	CBP/p300 ligand 5		/	Unkown
HY-161958	dCE-2		/	Unkown
HY-161959	EP300/CBP ligand 1		/	Unkown
HY-161960	EP300/CBP ligand 2		/	Unkown
HY-162128	Antitumor agent-130	Inhibitor	/	Unkown
HY-164005	CBP/EP300 bromodomain receptor-IN-1	Inhibitor	/	Unkown
HY-165413	KST012174 hydrochloride	Inhibitor	/	Unkown
HY-168148S	CZL-046	Inhibitor	/	Unkown
HY-168463	Y16524	Inhibitor	/	Unkown
HY-168464	Y16526	Inhibitor	/	Unkown
HY-173641	MNN-02-155		/	Unkown
HY-174868	iP300w	Inhibitor	/	Unkown
HY-175898	CBP/EP300 ligand-1		/	Unkown
HY-175907	CBP/p300 ligand 7	Ligand	/	Unkown
HY-176251	CBP/p300-IN-22	Inhibitor	/	Unkown
HY-179498	ROCK2-IN-13		/	Unkown
HY-179657	PROTAC p300 degrader-2	Inhibitor	/	Unkown
HY-180804	CZL-077	Inhibitor	/	Unkown
HY-181261	PROTAC CBP/P300 Degrader-2		/	Unkown
HY-181669	P300-IN-6	Inhibitor	/	Unkown
HY-181758	PROTAC CBP/p300/BRD4 Degrader-1		/	Unkown
HY-181759	CBP/p300/BRD4 ligand-1	Ligand	/	Unkown
HY-181852	CBP/p300 ligand 10	Degrader	/	Unkown
HY-181957	KB528		/	Unkown
HY-183251	PROTAC p300 degrader-1	Degrader	/	Unkown
HY-183802	PROTAC CBP/P300 Degrader-4	Degrader	/	Unkown
HY-183817	GNE-781-COOH	Ligand	/	Unkown
HY-183818	CRBN ligand-903		/	Unkown
HY-183819	CRBN ligand-903-trans-1,4-cyclohexanediamine-Boc		/	Unkown
HY-183992	CZL-149	Inhibitor	/	Unkown
HY-184453	PROTAC CBP/EP300 degrader-1		/	Unkown
HY-184454	EP300/CBP ligand 3	Ligand	/	Unkown
HY-184556	dCBP-30		/	Unkown
HY-185009	GSK702		/	Unkown
HY-185786	CBP/p300-IN-25		/	Unkown
HY-186064	CBP/p300 ligand-Linker Conjugate 3		/	Unkown
HY-CE00983A	4-Pentynoyl-Coenzyme A TFA	Substrate	/	Unkown
HY-P11829	ACTR-AD1 2L	Inhibitor	/	Unkown
HY-RS04407	Ep300 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W197205	SL010110		/	Unkown
HY-W585171	CRBN ligand-896		/	Unkown
HY-123009	KCN1	Inhibitor	/	Unkown
HY-123758	XDM-CBP	Inhibitor	/	Unkown
HY-141466	Crotonyl-CoA	Substrate	/	Unkown
HY-160260	EP300/CBP-IN-1	Inhibitor	/	Unkown
HY-161961	Thalidomide-NH-C10-Boc		/	Unkown
HY-166309	Crotonyl-CoA tetralithium	Substrate	/	Unkown
HY-19541A	I-CBP112 hydrochloride	Inhibitor	/	Unkown
HY-N0005S1	Curcumin-d3		/	Unkown
HY-W173361	CBP/p300-IN-24	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EP300	VGNC	VGNC:61889
Macaca mulatta	EP300	VGNC	VGNC:72228
Canis familiaris	EP300	VGNC	VGNC:84862
Rattus norvegicus	EP300	RGD	RGD:620036
Bos taurus	EP300	VGNC	VGNC:57349
Mus musculus	EP300	MGD	MGI:1276116
Others	EP300	NCBI