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: 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	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	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	16691198
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001103	Function	RNA polymerase II repressing transcription factor binding	IPI	16287852
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	18663143
GO:0001525	Process	Angiogenesis	ISS
GO:0001756	Process	Somitogenesis	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	ISS
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002193	Component	MAML1-RBP-Jkappa- ICN1 complex	IBA	21873635
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	ISS
GO:0003160	Process	Endocardium morphogenesis	ISS
GO:0003176	Process	Aortic valve development	IEA
GO:0003177	Process	Pulmonary valve development	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0003214	Process	Cardiac left ventricle morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003256	Process	Regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	ISS
GO:0003677	Function	DNA binding	TAS	9874765
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9874765
GO:0005515	Function	Protein binding	IPI	8627785, 9874765, 10713164, 16510869, 16530044, 17284587, 21102556, 21475249, 22810586, 23022380, 23303788, 25609649, 26302407, 26496610
GO:0005634	Component	Nucleus	IDA	9874765, 21102556
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	9874765
GO:0005737	Component	Cytoplasm	IDA	21102556
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0006959	Process	Humoral immune response	IEA
GO:0007219	Process	Notch signaling pathway	IBA	21873635
GO:0007219	Process	Notch signaling pathway	IMP	18663143
GO:0007219	Process	Notch signaling pathway	TAS
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	IDA	21102556
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	TAS
GO:0008134	Function	Transcription factor binding	IDA	23303788
GO:0008134	Function	Transcription factor binding	IPI	23303788
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009912	Process	Auditory receptor cell fate commitment	IEA
GO:0009957	Process	Epidermal cell fate specification	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0017053	Component	Transcription repressor complex	IDA	16691198
GO:0021983	Process	Pituitary gland development	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030279	Process	Negative regulation of ossification	ISS
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	ISS
GO:0036302	Process	Atrioventricular canal development	ISS
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043011	Process	Myeloid dendritic cell differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	23303788
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	TAS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	10713164
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18663143, 20890042
GO:0047485	Function	Protein N-terminus binding	IEA
GO:0048505	Process	Regulation of timing of cell differentiation	IEA
GO:0048733	Process	Sebaceous gland development	IEA
GO:0048820	Process	Hair follicle maturation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060486	Process	Club cell differentiation	IEA
GO:0060716	Process	Labyrinthine layer blood vessel development	ISS
GO:0060844	Process	Arterial endothelial cell fate commitment	IEA
GO:0061314	Process	Notch signaling involved in heart development	IC	21311046
GO:0061419	Process	Positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA	23303788
GO:0070491	Function	Repressing transcription factor binding	IPI	16691198
GO:0072554	Process	Blood vessel lumenization	ISS
GO:0097101	Process	Blood vessel endothelial cell fate specification	ISS
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	25038826
GO:1901186	Process	Positive regulation of ERBB signaling pathway	ISS
GO:1901189	Process	Positive regulation of ephrin receptor signaling pathway	ISS
GO:1901297	Process	Positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment	IEA
GO:2000138	Process	Positive regulation of cell proliferation involved in heart morphogenesis	ISS

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

Causal
Disease name	Disease term	dbSNP ID	References
Adams-oliver syndrome	Adams Oliver syndrome, ADAMS-OLIVER SYNDROME 3, Adams-Oliver syndrome 1, Adams-Oliver syndrome	rs41309764, rs387907031, rs1559999373, rs1226716539, rs387907270, rs387907271, rs397509398, rs397509399, rs587776993, rs587776994, rs587776995, rs587781259, rs587777735, rs587777736, rs730882238, rs796065350, rs796065348, rs796065351, rs796065347, rs796065346, rs796065345, rs796065344, rs61750844, rs864622063, rs864622061, rs746342893, rs864622060, rs864622059, rs864622058, rs864622057, rs864622056, rs869025494, rs879255610, rs201387914, rs1057523819, rs1555697020, rs372751467, rs374530179, rs1348892740, rs1280482569, rs1555826472, rs1553768038, rs185181819, rs1247059195, rs369583084, rs771160630, rs1553878211, rs1553880029, rs1553882550, rs1554727954, rs587778569, rs1554728424, rs1554729113, rs1554729443, rs1554730184, rs1554730670, rs1555393027, rs1555393125, rs1247027543, rs1555393182, rs1554729118, rs1554728428, rs1559604548, rs1564199476, rs1564191302, rs752015120, rs1589058964, rs1589072024, rs1596194950, rs1589064285, rs1843317673	22883147, 28160419, 29924900, 22883147, 22883147, 28160419
Aplasia cutis congenita	Aplasia Cutis Congenita, Congenital defect of skull and scalp	rs587777706
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732
Multiple sclerosis	Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	25853421
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	23143596, 20453842
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired porencephaly	Acquired porencephaly
Alopecia	Alopecia
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Congenital arteriovenous malformation	Congenital arteriovenous malformation
Congenital atresia of pulmonary artery	Congenital atresia of pulmonary artery
Congenital cerebral hernia	Congenital cerebral hernia
Congenital hepatic fibrosis	Hepatic Fibrosis, Congenital
Cutis marmorata	Cutis marmorata
Dysmorphic features	Dysmorphic features
Endometrioma	Endometrioma		22138541
Endometriosis	Endometriosis	rs1800629, rs1143634	22138541
Esophageal varix	Esophageal Varices
Leukopenia	Leukopenia
Periventricular leukomalacia	Leukomalacia, Periventricular
Porencephalic cyst	Porencephalic cyst	rs9515185, rs183563055, rs145172612, rs61749897, rs9521650, rs3742207, rs2275843, rs1133219, rs589985, rs536174, rs677877, rs3832900, rs532625, rs41275104, rs755709828, rs377503687, rs886049959, rs752476229, rs778143775, rs781133776, rs561116319, rs16975612, rs201801894, rs886049964, rs867117624, rs756684753, rs886049951, rs371130027, rs886049953, rs886049954, rs886049955, rs545498227, rs199557190, rs139122216, rs754208625, rs73611465, rs886049962, rs60069761, rs7990009, rs7990017, rs886049970, rs150809854, rs886049952, rs115834242, rs535848796, rs145018661, rs201964644, rs150129180, rs75711155, rs150182714, rs138269346, rs200121908, rs886049965, rs7989823, rs7991332, rs528084465, rs193065628, rs13260, rs555157539, rs11545877, rs762512053, rs202055679, rs200734000, rs375787099, rs41275090, rs372803920, rs200252122, rs760194800, rs113651836, rs538721412, rs35466678, rs886049976, rs397838577, rs760146256, rs56406633
Portal hypertension	Portal Hypertension
Strabismus	Strabismus
Syndactyly of fingers	Syndactyly of fingers
Syndactyly of the toes	2-3 toe syndactyly
Talipes	Talipes