RBPJ (recombination signal binding protein for immunoglobulin kappa J region)

Gene

• Entrez ID: 3516
• Gene name: Recombination signal binding protein for immunoglobulin kappa J region
• Gene symbol: RBPJ
• Synonyms (NCBI Gene): AOS3, CBF-1, CBF1, IGKJRB, IGKJRB1, KBF2, RBP-J, RBP-J kappa, RBP-JK, RBPJK, RBPSUH, SUH, csl
• Chromosome: 4
• Chromosome location: 4p15.2
• Summary: The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907270	A>G	Pathogenic	Coding sequence variant, missense variant
rs387907271	A>G	Pathogenic	Coding sequence variant, missense variant
rs1064794801	CTACTGCAGTGGA>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1553878198	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553878211	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553880029	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553882550	C>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019785	hsa-miR-375	Microarray	20215506
MIRT020670	hsa-miR-155-5p	Proteomics	18668040
MIRT022527	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT052218	hsa-let-7b-5p	CLASH	23622248
MIRT050652	hsa-miR-18a-5p	CLASH	23622248
MIRT212604	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT212605	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT212610	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT212611	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT212612	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT212619	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT212608	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT492458	hsa-miR-3133	PAR-CLIP	20371350
MIRT492457	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT212615	hsa-miR-3609	PAR-CLIP	20371350
MIRT212617	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT212606	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT492455	hsa-miR-3923	PAR-CLIP	20371350
MIRT212613	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT309949	hsa-miR-4468	PAR-CLIP	20371350
MIRT492452	hsa-miR-4760-5p	PAR-CLIP	20371350
MIRT492451	hsa-miR-8061	PAR-CLIP	20371350
MIRT356391	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT566105	hsa-miR-3622a-3p	PAR-CLIP	20371350
MIRT566104	hsa-miR-3622b-3p	PAR-CLIP	20371350
MIRT356400	hsa-miR-6765-3p	PAR-CLIP	20371350
MIRT566103	hsa-miR-6814-5p	PAR-CLIP	20371350
MIRT356396	hsa-miR-4774-5p	PAR-CLIP	20371350
MIRT356390	hsa-miR-193b-5p	PAR-CLIP	20371350
MIRT356398	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT566102	hsa-miR-4446-5p	PAR-CLIP	20371350
MIRT356409	hsa-miR-548ac	PAR-CLIP	20371350
MIRT356416	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT356403	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT356404	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT356407	hsa-miR-548z	PAR-CLIP	20371350
MIRT356402	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT356392	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT561670	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT309928	hsa-miR-6077	PAR-CLIP	20371350
MIRT212604	hsa-miR-15a-5p	PAR-CLIP	22012620
MIRT212605	hsa-miR-16-5p	PAR-CLIP	22012620
MIRT212610	hsa-miR-195-5p	PAR-CLIP	22012620
MIRT212611	hsa-miR-424-5p	PAR-CLIP	22012620
MIRT212612	hsa-miR-497-5p	PAR-CLIP	22012620
MIRT212619	hsa-miR-6838-5p	PAR-CLIP	22012620
MIRT212608	hsa-miR-15b-5p	PAR-CLIP	22012620
MIRT492458	hsa-miR-3133	PAR-CLIP	22012620
MIRT492457	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT212615	hsa-miR-3609	PAR-CLIP	22012620
MIRT212617	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT492456	hsa-miR-302f	PAR-CLIP	22012620
MIRT212606	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT492455	hsa-miR-3923	PAR-CLIP	22012620
MIRT492454	hsa-miR-532-5p	PAR-CLIP	22012620
MIRT212613	hsa-miR-545-3p	PAR-CLIP	22012620
MIRT212618	hsa-miR-3064-3p	PAR-CLIP	22012620
MIRT492453	hsa-miR-4715-3p	PAR-CLIP	22012620
MIRT492452	hsa-miR-4760-5p	PAR-CLIP	22012620
MIRT492451	hsa-miR-8061	PAR-CLIP	22012620
MIRT212604	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT212605	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT212610	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT212611	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT212612	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT212619	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT212608	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT492458	hsa-miR-3133	PAR-CLIP	23446348
MIRT492457	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT212615	hsa-miR-3609	PAR-CLIP	23446348
MIRT212617	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT212606	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT492455	hsa-miR-3923	PAR-CLIP	23446348
MIRT212613	hsa-miR-545-3p	PAR-CLIP	23446348
MIRT309949	hsa-miR-4468	PAR-CLIP	23446348
MIRT212618	hsa-miR-3064-3p	PAR-CLIP	23446348
MIRT492452	hsa-miR-4760-5p	PAR-CLIP	23446348
MIRT492451	hsa-miR-8061	PAR-CLIP	23446348
MIRT212604	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT212605	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT212610	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT212611	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT212612	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT212619	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT212608	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT492458	hsa-miR-3133	PAR-CLIP	23592263
MIRT492457	hsa-miR-186-5p	PAR-CLIP	23592263
MIRT212615	hsa-miR-3609	PAR-CLIP	23592263
MIRT212617	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT492456	hsa-miR-302f	PAR-CLIP	23592263
MIRT212606	hsa-miR-32-3p	PAR-CLIP	23592263
MIRT492455	hsa-miR-3923	PAR-CLIP	23592263
MIRT492454	hsa-miR-532-5p	PAR-CLIP	23592263
MIRT212613	hsa-miR-545-3p	PAR-CLIP	23592263
MIRT309949	hsa-miR-4468	PAR-CLIP	23592263
MIRT212618	hsa-miR-3064-3p	PAR-CLIP	23592263
MIRT492453	hsa-miR-4715-3p	PAR-CLIP	23592263
MIRT492452	hsa-miR-4760-5p	PAR-CLIP	23592263
MIRT492451	hsa-miR-8061	PAR-CLIP	23592263
MIRT439796	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439796	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT734185	hsa-miR-590-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33389283
MIRT212604	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT212605	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT212610	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT212611	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT212612	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT212619	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT212608	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT492458	hsa-miR-3133	PAR-CLIP	20371350
MIRT492457	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT212615	hsa-miR-3609	PAR-CLIP	20371350
MIRT212617	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT212606	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT492455	hsa-miR-3923	PAR-CLIP	20371350
MIRT212613	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT309949	hsa-miR-4468	PAR-CLIP	20371350
MIRT492452	hsa-miR-4760-5p	PAR-CLIP	20371350
MIRT492451	hsa-miR-8061	PAR-CLIP	20371350
MIRT356391	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT566105	hsa-miR-3622a-3p	PAR-CLIP	20371350
MIRT566104	hsa-miR-3622b-3p	PAR-CLIP	20371350
MIRT356400	hsa-miR-6765-3p	PAR-CLIP	20371350
MIRT566103	hsa-miR-6814-5p	PAR-CLIP	20371350
MIRT356396	hsa-miR-4774-5p	PAR-CLIP	20371350
MIRT356390	hsa-miR-193b-5p	PAR-CLIP	20371350
MIRT356398	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT566102	hsa-miR-4446-5p	PAR-CLIP	20371350
MIRT356409	hsa-miR-548ac	PAR-CLIP	20371350
MIRT356416	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT356403	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT356404	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT356407	hsa-miR-548z	PAR-CLIP	20371350
MIRT356402	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT356392	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT561670	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT309928	hsa-miR-6077	PAR-CLIP	20371350
MIRT212604	hsa-miR-15a-5p	PAR-CLIP	22012620
MIRT212605	hsa-miR-16-5p	PAR-CLIP	22012620
MIRT212610	hsa-miR-195-5p	PAR-CLIP	22012620
MIRT212611	hsa-miR-424-5p	PAR-CLIP	22012620
MIRT212612	hsa-miR-497-5p	PAR-CLIP	22012620
MIRT212619	hsa-miR-6838-5p	PAR-CLIP	22012620
MIRT212608	hsa-miR-15b-5p	PAR-CLIP	22012620
MIRT492458	hsa-miR-3133	PAR-CLIP	22012620
MIRT492457	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT212615	hsa-miR-3609	PAR-CLIP	22012620
MIRT212617	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT492456	hsa-miR-302f	PAR-CLIP	22012620
MIRT212606	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT492455	hsa-miR-3923	PAR-CLIP	22012620
MIRT492454	hsa-miR-532-5p	PAR-CLIP	22012620
MIRT212613	hsa-miR-545-3p	PAR-CLIP	22012620
MIRT212618	hsa-miR-3064-3p	PAR-CLIP	22012620
MIRT492453	hsa-miR-4715-3p	PAR-CLIP	22012620
MIRT492452	hsa-miR-4760-5p	PAR-CLIP	22012620
MIRT492451	hsa-miR-8061	PAR-CLIP	22012620
MIRT212604	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT212605	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT212610	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT212611	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT212612	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT212619	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT212608	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT492458	hsa-miR-3133	PAR-CLIP	23446348
MIRT492457	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT212615	hsa-miR-3609	PAR-CLIP	23446348
MIRT212617	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT212606	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT492455	hsa-miR-3923	PAR-CLIP	23446348
MIRT212613	hsa-miR-545-3p	PAR-CLIP	23446348
MIRT309949	hsa-miR-4468	PAR-CLIP	23446348
MIRT212618	hsa-miR-3064-3p	PAR-CLIP	23446348
MIRT492452	hsa-miR-4760-5p	PAR-CLIP	23446348
MIRT492451	hsa-miR-8061	PAR-CLIP	23446348
MIRT212604	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT212605	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT212610	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT212611	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT212612	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT212619	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT212608	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT492458	hsa-miR-3133	PAR-CLIP	23592263
MIRT492457	hsa-miR-186-5p	PAR-CLIP	23592263
MIRT212615	hsa-miR-3609	PAR-CLIP	23592263
MIRT212617	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT492456	hsa-miR-302f	PAR-CLIP	23592263
MIRT212606	hsa-miR-32-3p	PAR-CLIP	23592263
MIRT492455	hsa-miR-3923	PAR-CLIP	23592263
MIRT492454	hsa-miR-532-5p	PAR-CLIP	23592263
MIRT212613	hsa-miR-545-3p	PAR-CLIP	23592263
MIRT309949	hsa-miR-4468	PAR-CLIP	23592263
MIRT212618	hsa-miR-3064-3p	PAR-CLIP	23592263
MIRT492453	hsa-miR-4715-3p	PAR-CLIP	23592263
MIRT492452	hsa-miR-4760-5p	PAR-CLIP	23592263
MIRT492451	hsa-miR-8061	PAR-CLIP	23592263
MIRT1553015	hsa-miR-1193	CLIP-seq
MIRT1553016	hsa-miR-2392	CLIP-seq
MIRT1553017	hsa-miR-3140-5p	CLIP-seq
MIRT1553018	hsa-miR-3155	CLIP-seq
MIRT1553019	hsa-miR-3155b	CLIP-seq
MIRT1553020	hsa-miR-484	CLIP-seq
MIRT2088394	hsa-miR-3682-5p	CLIP-seq
MIRT2088395	hsa-miR-4699-3p	CLIP-seq
MIRT2393570	hsa-miR-1909	CLIP-seq
MIRT2393571	hsa-miR-3065-3p	CLIP-seq
MIRT2393572	hsa-miR-4270	CLIP-seq
MIRT2393573	hsa-miR-4441	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18663143
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	16691198
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	18663143
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0001756	Process	Somitogenesis	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	ISS
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002193	Component	MAML1-RBP-Jkappa- ICN1 complex	IBA
GO:0002193	Component	MAML1-RBP-Jkappa- ICN1 complex	IDA	16510869
GO:0002437	Process	Inflammatory response to antigenic stimulus	IEA
GO:0003139	Process	Secondary heart field specification	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003157	Process	Endocardium development	IEA
GO:0003160	Process	Endocardium morphogenesis	IEA
GO:0003160	Process	Endocardium morphogenesis	ISS
GO:0003176	Process	Aortic valve development	IEA
GO:0003176	Process	Aortic valve development	ISS
GO:0003177	Process	Pulmonary valve development	IEA
GO:0003177	Process	Pulmonary valve development	ISS
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0003214	Process	Cardiac left ventricle morphogenesis	IEA
GO:0003214	Process	Cardiac left ventricle morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9874765
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9874765
GO:0005515	Function	Protein binding	IPI	8627785, 9874765, 10713164, 16510869, 16530044, 17284587, 19907488, 21102556, 21475249, 22325781, 22810586, 23022380, 25609649, 26302407, 26496610, 29030483, 33961781
GO:0005634	Component	Nucleus	IDA	9874765, 21102556
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005730	Component	Nucleolus	IDA	9874765
GO:0005737	Component	Cytoplasm	IDA	21102556
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0006959	Process	Humoral immune response	IEA
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IMP	18663143, 21311046
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	IDA	21102556
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	IEA
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	21311046
GO:0008283	Process	Cell population proliferation	IEA
GO:0009912	Process	Auditory receptor cell fate commitment	IEA
GO:0009957	Process	Epidermal cell fate specification	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0017053	Component	Transcription repressor complex	IDA	16691198
GO:0021983	Process	Pituitary gland development	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030279	Process	Negative regulation of ossification	IEA
GO:0030279	Process	Negative regulation of ossification	ISS
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0036302	Process	Atrioventricular canal development	IEA
GO:0036302	Process	Atrioventricular canal development	ISS
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043011	Process	Myeloid dendritic cell differentiation	IEA
GO:0043467	Process	Regulation of generation of precursor metabolites and energy	IDA	23303788
GO:0043565	Function	Sequence-specific DNA binding	IDA	23303788
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10713164
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23303788
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18663143, 20890042
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048505	Process	Regulation of timing of cell differentiation	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048733	Process	Sebaceous gland development	IEA
GO:0048820	Process	Hair follicle maturation	IEA
GO:0048844	Process	Artery morphogenesis	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	IEA
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060486	Process	Club cell differentiation	IEA
GO:0060716	Process	Labyrinthine layer blood vessel development	IEA
GO:0060716	Process	Labyrinthine layer blood vessel development	ISS
GO:0060844	Process	Arterial endothelial cell fate commitment	IEA
GO:0061344	Process	Regulation of cell adhesion involved in heart morphogenesis	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	16287852
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072554	Process	Blood vessel lumenization	IEA
GO:0072554	Process	Blood vessel lumenization	ISS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0097101	Process	Blood vessel endothelial cell fate specification	IEA
GO:0097101	Process	Blood vessel endothelial cell fate specification	ISS
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	25038826
GO:0140297	Function	DNA-binding transcription factor binding	IDA	23303788
GO:0140297	Function	DNA-binding transcription factor binding	IPI	16691198
GO:1901186	Process	Positive regulation of ERBB signaling pathway	IEA
GO:1901186	Process	Positive regulation of ERBB signaling pathway	ISS
GO:1901189	Process	Positive regulation of ephrin receptor signaling pathway	IEA
GO:1901189	Process	Positive regulation of ephrin receptor signaling pathway	ISS
GO:2000138	Process	Positive regulation of cell proliferation involved in heart morphogenesis	IEA
GO:2000138	Process	Positive regulation of cell proliferation involved in heart morphogenesis	ISS
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

Other IDs

• MIM: 147183
• HGNC: 5724
• e!Ensembl: ENSG00000168214

Protein

• UniProt ID: Q06330
• Protein name: Recombining binding protein suppressor of hairless (CBF-1) (J kappa-recombination signal-binding protein) (RBP-J kappa) (RBP-J) (RBP-JK) (Renal carcinoma antigen NY-REN-30)
• Protein function: Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not assoc
• PDB: 2F8X, 3NBN, 3V79, 6PY8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09271	LAG1-DNAbind	48 → 178	LAG1, DNA binding	Domain
  PF09270	BTD	206 → 328	Beta-trefoil DNA-binding domain	Domain

• Sequence:

  MDHTEGSPAEEPPAHAPSPGKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSY
  GNEKRFFCPPPCVYLMGSGWKKKKEQMERDGCSEQESQPCAFIGIGNSDQEMQQLNLEGK
  NYCTAKTLYISDSDKRKHFMLSVKMFYGNSDDIGVFLSKRIKVISKPSKKKQSLKNADLC
  IASGTKVALFNRLRSQTVSTRYLHVEGGNFHASSQQWGAFFIHLLDDDESEGEEFTVRDG
  YIHYGQTVKLVCSVTGMALPRLIIRKVDKQTALLDADDPVSQLHKCAFYLKDTERMYLCL
  SQERIIQFQATPCPKEPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESL
  QLNGGGDVAMLELTGQNFTPNLRVWFGDVEAETMYRCGESMLCVVPDISAFREGWRWVRQ
  PVQVPVTLVRNDGIIYSTSLTFTYTPEPGPRPHCSAAGAILRANSSQVPPNESNTNSEGS
  YTNASTNSTSVTSSTATVVS

• Sequence length: 500

Pathways

KEGG:

Notch signaling pathway
Th1 and Th2 cell differentiation
Spinocerebellar ataxia
Human papillomavirus infection
Epstein-Barr virus infection
Viral carcinogenesis

Reactome:

Pre-NOTCH Transcription and Translation
NOTCH1 Intracellular Domain Regulates Transcription
NOTCH2 intracellular domain regulates transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
RUNX3 regulates NOTCH signaling
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Adams-Oliver syndrome 3	Likely pathogenic; Pathogenic	rs2475204247, rs387907270, rs387907271, rs1553878211, rs1553880029, rs1553882550	RCV002467425 RCV000030707 RCV000030708 RCV000662238 RCV000662239 RCV000662240	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type 2 diabetes mellitus	Likely pathogenic	rs1553878211	RCV000987431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ADAMS-OLIVER SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RBPJ-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21737748		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	19287095		★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	ORPHANET_DG	22883147		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome	Adams-Oliver Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	GENOMICS_ENGLAND_DG	22883147, 28160419		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	BEFREE	29924900		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ADAMS-OLIVER SYNDROME 3	Adams-Oliver Syndrome	UNIPROT_DG	22883147		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADAMS-OLIVER SYNDROME 3	Adams-Oliver Syndrome	GENOMICS_ENGLAND_DG	28160419, 29924900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADAMS-OLIVER SYNDROME 3	Adams-Oliver Syndrome	CLINVAR_DG	29924900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adult Medulloblastoma	Medulloblastoma	BEFREE	28571041		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	28251901, 29998524		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	24665126		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25014791, 26604133, 33517445	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39350019	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28493549		★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	30384995		★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	39350019	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	30524246		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28571041		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21520243, 27066863		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23181716, 35844785	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	32054837	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	15350543		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36147467, 36717584, 36938729	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29971915		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35368029	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30653445	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31467287	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30075508		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	30075508	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	30075508	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28571041		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	30501048		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	22279105		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29852230		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital defect of skull and scalp	Aplasia cutis congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28472118		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	20174635		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29302047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29464183		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	20174635		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36575819	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	22138541		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	22138541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	23958593		★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23451269, 28571041		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28571041, 32885530	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23451269, 28571041		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	19147558		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26669487		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28571041, 33795525	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	20174635		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24696491	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	25512468		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	31479440		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	24314660, 31308175		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	35368029	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	29971915	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11003647, 19349467, 24549417		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Li-Fraumeni-Like Syndrome	Li-Fraumeni Syndrome	BEFREE	28608266		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25589461	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	21737748		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28571041		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	28571041		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21520243, 27066863		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26655998, 27466498, 30061220		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25864518, 26202358		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30231994		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24113181		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	31023264		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21520243, 25512468, 26302407, 26877261, 27542230, 28571041, 28684431, 31467287		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18339869		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28571041		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21217157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	25853421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	25853421		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21302306, 22682244, 22792167, 25512468, 26655998, 27066863, 29757189, 30231994		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17076661, 30642633		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21653638		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22897852		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19455146, 27794430		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36366750	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26655998, 27466498, 30061220		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	31086586		★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	21737748		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	31690634		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25864518, 26202358		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26202358	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22792167		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	20453842, 23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25014791, 26604133		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	9600120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	19906914, 24696491	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29593239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29593239	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	30061220		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	29931229		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	21653638		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26302407, 27542230, 29757189, 30653445		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31467287		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24113181		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	14570916		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14570916, 27489358	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	30213224		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	31023264	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28377481	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35701858	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	39206965	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	27203734		★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	BEFREE	23958593		★☆☆☆☆ Found in Text Mining only