Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4851
Gene name Gene Name - the full gene name approved by the HGNC.	Notch receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NOTCH1
Synonyms (NCBI Gene) Gene synonyms aliases	AOS5, AOVD1, TAN1, hN1
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an in

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41309764	G>A	Pathogenic	Stop gained, coding sequence variant
rs41309766	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs61755997	G>A	Pathogenic, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs182330532	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs199793164	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200462746	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs201215245	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201620358	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369070550	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs377217445	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Synonymous variant, coding sequence variant
rs515726231	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs515726232	C>T	Likely-pathogenic	Splice donor variant
rs515726233	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs545088400	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs554142958	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs568700183	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs587777734	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777736	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs587778569	C>A,T	Uncertain-significance, not-provided, pathogenic	Stop gained, missense variant, coding sequence variant
rs587781259	C>T	Pathogenic	Missense variant, coding sequence variant
rs746342893	C>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs754529382	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs756434709	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs761562076	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs762077987	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs771590616	C>T	Uncertain-significance, pathogenic	Intron variant
rs774966208	C>G,T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs780710009	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs786205599	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs786205600	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796065341	A>C	Pathogenic	Coding sequence variant, missense variant
rs863224901	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs864622056	C>T	Pathogenic	Coding sequence variant, missense variant
rs864622057	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs864622058	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs864622059	->T	Pathogenic	Coding sequence variant, stop gained
rs864622060	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs864622061	->A	Pathogenic	Coding sequence variant, frameshift variant
rs864622063	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs869025494	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1057515422	G>A,C	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs1057515423	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057518096	GTT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1057518661	G>C	Pathogenic	Coding sequence variant, stop gained
rs1057521857	T>G	Likely-pathogenic	Splice acceptor variant
rs1057523819	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795070	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795976	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796867	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1290954710	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1348892740	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1448345366	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554727954	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554728034	ACGAGCGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554728424	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554728428	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554728529	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554728658	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554729113	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1554729118	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554729443	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554730670	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554730758	T>A	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554826736	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554826746	G>A	Pathogenic	Coding sequence variant, stop gained
rs1564191302	G>T	Pathogenic	Coding sequence variant, stop gained
rs1564199476	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589058964	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589064285	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1589066272	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1589072024	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002875	hsa-miR-34a-5p	Review, Microarray	19461653
MIRT002875	hsa-miR-34a-5p	Review, Microarray	19461653
MIRT004424	hsa-miR-326	Western blot, Luciferase reporter assay	19955368
MIRT004424	hsa-miR-326	Western blot, Luciferase reporter assay	19955368
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20351093
MIRT002876	hsa-miR-30a-5p	Luciferase reporter assay, Microarray	17150773
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, Microarray	17150773
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, Microarray	17150773
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	19773441
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	19773441
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay	14697198
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay	21285251
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT002875	hsa-miR-34a-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22363487
MIRT006446	hsa-miR-449a	ChIP-seq, Luciferase reporter assay	21569010
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT002875	hsa-miR-34a-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22363487
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT005869	hsa-miR-144-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21929751
MIRT002875	hsa-miR-34a-5p	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22363487
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22498974
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	22684561
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	22684561
MIRT006924	hsa-miR-10b-5p	Luciferase reporter assay	23034333
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay	23085450
MIRT002875	hsa-miR-34a-5p	Western blot	23226240
MIRT002875	hsa-miR-34a-5p	Western blot	23226240
MIRT001768	hsa-miR-27b-3p	Reporter assay	17150773
MIRT001775	hsa-miR-23b-3p	Reporter assay	17150773
MIRT001773	hsa-miR-24-3p	Reporter assay	15131085
MIRT035538	hsa-miR-181a-5p	Luciferase reporter assay	22916024
MIRT035538	hsa-miR-181a-5p	Luciferase reporter assay	22916024
MIRT035538	hsa-miR-181a-5p	Western blot	22916024
MIRT035538	hsa-miR-181a-5p	Western blot	22916024
MIRT035538	hsa-miR-181a-5p	Western blot	22916024
MIRT001768	hsa-miR-27b-3p	CLASH	23622248
MIRT001768	hsa-miR-27b-3p	CLASH	23622248
0	hsa-miR-34a-5p	qRT-PCR, Western blot	23145211
MIRT006446	hsa-miR-449a	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23226395
MIRT002875	hsa-miR-34a-5p	Microarray, Western blot	22438124
MIRT002875	hsa-miR-34a-5p	qRT-PCR, Western blot	23035210
MIRT002876	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT002876	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT054706	hsa-miR-30b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT054706	hsa-miR-30b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437489	hsa-miR-30c-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437489	hsa-miR-30c-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437490	hsa-miR-30d-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437490	hsa-miR-30d-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437491	hsa-miR-30e-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT437491	hsa-miR-30e-5p	Luciferase reporter assay, qRT-PCR, Western blot	24029422
MIRT002875	hsa-miR-34a-5p	qRT-PCR, Western blot	23430952
MIRT437862	hsa-miR-200b-3p	qRT-PCR, Western blot	23430952
MIRT437489	hsa-miR-30c-5p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR	23974200
MIRT438061	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT437862	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT437489	hsa-miR-30c-5p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR	23974200
MIRT438061	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT437862	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT006458	hsa-miR-34b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT006459	hsa-miR-34c-5p	Luciferase reporter assay, qRT-PCR, Western blot	23955600
MIRT655833	hsa-miR-1277-3p	HITS-CLIP	23824327
MIRT655832	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT655831	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT655830	hsa-miR-6761-3p	HITS-CLIP	23824327
MIRT655829	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT655828	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT655827	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT655826	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT655825	hsa-miR-5695	HITS-CLIP	23824327
MIRT655824	hsa-miR-623	HITS-CLIP	23824327
MIRT655823	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT655822	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT655821	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT655820	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT655819	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655818	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	28145431
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	28145431
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26493107
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26493107
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26493107
MIRT002875	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26493107
MIRT732119	hsa-miR-363-3p	Luciferase reporter assay, qRT-PCR, Western blot	26709677
MIRT732119	hsa-miR-363-3p	Luciferase reporter assay, qRT-PCR, Western blot	26709677
MIRT054763	hsa-miR-139-5p	Luciferase reporter assay, qRT-PCR, Western blot	27738333
MIRT054763	hsa-miR-139-5p	Luciferase reporter assay, qRT-PCR, Western blot	27738333
MIRT054763	hsa-miR-139-5p	Luciferase reporter assay, qRT-PCR, Western blot	26299922
MIRT438061	hsa-miR-200c-3p	Immunofluorescence, Western blot	26400206
MIRT002875	hsa-miR-34a-5p	ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot	28129650
MIRT002875	hsa-miR-34a-5p	ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot	28129650
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR	28410211
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR	28410211
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR	28410211
MIRT005412	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR	28410211
MIRT733159	hsa-miR-608	Luciferase reporter assay, qRT-PCR, Western blotting	32494206
MIRT005869	hsa-miR-144-3p	Microarray, Western blotting	33917330
MIRT733728	hsa-miR-106a-3p	Microarray, Western blotting	33917330
MIRT733729	hsa-miR-30d-3p	Microarray, Western blotting	33917330
MIRT002875	hsa-miR-34a-5p	qRT-PCR, Western blotting	33740991
MIRT733873	hsa-miR-2682-3p	qRT-PCR	33740841
MIRT733901	hsa-miR-145-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32588730
MIRT734380	hsa-miR-155-5p	qRT-PCR	32507875
MIRT734503	hsa-miR-34a-3p	qRT-PCR	31775690
MIRT734742	hsa-miR-455-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, Flow cytometry, Immunocytochemistry (ICC)	33643896
MIRT054763	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32913469
MIRT736291	hsa-miR-145-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	32104249
MIRT736830	hsa-miR-137	Western blotting, RNA-seq, qRT-PCR	33461167
MIRT006446	hsa-miR-449a	Luciferase reporter assay, qRT-PCR	32402942
MIRT006446	hsa-miR-449a	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	31853185
MIRT655833	hsa-miR-1277-3p	HITS-CLIP	23824327
MIRT655832	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT655831	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT655830	hsa-miR-6761-3p	HITS-CLIP	23824327
MIRT655829	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT655828	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT655827	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT655826	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT655825	hsa-miR-5695	HITS-CLIP	23824327
MIRT655824	hsa-miR-623	HITS-CLIP	23824327
MIRT655823	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT655822	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT655821	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT655820	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT655819	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655818	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT1189592	hsa-miR-1264	CLIP-seq
MIRT1189593	hsa-miR-1302	CLIP-seq
MIRT1189594	hsa-miR-183	CLIP-seq
MIRT1189595	hsa-miR-2355-5p	CLIP-seq
MIRT1189596	hsa-miR-25	CLIP-seq
MIRT1189597	hsa-miR-2682	CLIP-seq
MIRT1189598	hsa-miR-30a	CLIP-seq
MIRT1189599	hsa-miR-30b	CLIP-seq
MIRT1189600	hsa-miR-30c	CLIP-seq
MIRT1189601	hsa-miR-30d	CLIP-seq
MIRT1189602	hsa-miR-30e	CLIP-seq
MIRT1189603	hsa-miR-3122	CLIP-seq
MIRT1189604	hsa-miR-3124-3p	CLIP-seq
MIRT1189605	hsa-miR-3163	CLIP-seq
MIRT1189606	hsa-miR-32	CLIP-seq
MIRT1189607	hsa-miR-331-3p	CLIP-seq
MIRT1189608	hsa-miR-340	CLIP-seq
MIRT1189609	hsa-miR-34a	CLIP-seq
MIRT1189610	hsa-miR-3607-3p	CLIP-seq
MIRT1189611	hsa-miR-363	CLIP-seq
MIRT1189612	hsa-miR-3668	CLIP-seq
MIRT1189613	hsa-miR-367	CLIP-seq
MIRT1189614	hsa-miR-3679-3p	CLIP-seq
MIRT1189615	hsa-miR-3686	CLIP-seq
MIRT1189616	hsa-miR-3913-5p	CLIP-seq
MIRT1189617	hsa-miR-3929	CLIP-seq
MIRT1189618	hsa-miR-3935	CLIP-seq
MIRT1189619	hsa-miR-3944-5p	CLIP-seq
MIRT1189620	hsa-miR-4292	CLIP-seq
MIRT1189621	hsa-miR-4298	CLIP-seq
MIRT1189622	hsa-miR-4313	CLIP-seq
MIRT1189623	hsa-miR-4419b	CLIP-seq
MIRT1189624	hsa-miR-4450	CLIP-seq
MIRT1189625	hsa-miR-4478	CLIP-seq
MIRT1189626	hsa-miR-449b	CLIP-seq
MIRT1189627	hsa-miR-449c	CLIP-seq
MIRT1189628	hsa-miR-4514	CLIP-seq
MIRT1189629	hsa-miR-4645-5p	CLIP-seq
MIRT1189630	hsa-miR-4652-3p	CLIP-seq
MIRT1189631	hsa-miR-4667-5p	CLIP-seq
MIRT1189632	hsa-miR-4673	CLIP-seq
MIRT1189633	hsa-miR-4690-3p	CLIP-seq
MIRT1189634	hsa-miR-4692	CLIP-seq
MIRT1189635	hsa-miR-4700-3p	CLIP-seq
MIRT1189636	hsa-miR-4700-5p	CLIP-seq
MIRT1189637	hsa-miR-4711-3p	CLIP-seq
MIRT1189638	hsa-miR-4731-5p	CLIP-seq
MIRT1189639	hsa-miR-511	CLIP-seq
MIRT1189640	hsa-miR-518a-5p	CLIP-seq
MIRT1189641	hsa-miR-527	CLIP-seq
MIRT1189642	hsa-miR-548c-3p	CLIP-seq
MIRT1189643	hsa-miR-635	CLIP-seq
MIRT1189644	hsa-miR-92a	CLIP-seq
MIRT1189645	hsa-miR-92b	CLIP-seq
MIRT1189596	hsa-miR-25	CLIP-seq
MIRT1189606	hsa-miR-32	CLIP-seq
MIRT1189611	hsa-miR-363	CLIP-seq
MIRT1189613	hsa-miR-367	CLIP-seq
MIRT1189640	hsa-miR-518a-5p	CLIP-seq
MIRT1189641	hsa-miR-527	CLIP-seq
MIRT1189644	hsa-miR-92a	CLIP-seq
MIRT1189645	hsa-miR-92b	CLIP-seq
MIRT2054840	hsa-miR-1245b-3p	CLIP-seq
MIRT1189592	hsa-miR-1264	CLIP-seq
MIRT2054841	hsa-miR-1468	CLIP-seq
MIRT2054842	hsa-miR-150	CLIP-seq
MIRT1189595	hsa-miR-2355-5p	CLIP-seq
MIRT1189596	hsa-miR-25	CLIP-seq
MIRT1189598	hsa-miR-30a	CLIP-seq
MIRT1189599	hsa-miR-30b	CLIP-seq
MIRT1189600	hsa-miR-30c	CLIP-seq
MIRT1189601	hsa-miR-30d	CLIP-seq
MIRT1189602	hsa-miR-30e	CLIP-seq
MIRT2054843	hsa-miR-31	CLIP-seq
MIRT2054844	hsa-miR-3152-5p	CLIP-seq
MIRT1189605	hsa-miR-3163	CLIP-seq
MIRT1189606	hsa-miR-32	CLIP-seq
MIRT2054845	hsa-miR-337-3p	CLIP-seq
MIRT1189608	hsa-miR-340	CLIP-seq
MIRT1189610	hsa-miR-3607-3p	CLIP-seq
MIRT2054846	hsa-miR-3614-5p	CLIP-seq
MIRT1189611	hsa-miR-363	CLIP-seq
MIRT2054847	hsa-miR-3663-5p	CLIP-seq
MIRT1189613	hsa-miR-367	CLIP-seq
MIRT2054848	hsa-miR-3685	CLIP-seq
MIRT1189615	hsa-miR-3686	CLIP-seq
MIRT2054849	hsa-miR-384	CLIP-seq
MIRT2054850	hsa-miR-3942-3p	CLIP-seq
MIRT2054851	hsa-miR-4268	CLIP-seq
MIRT2054852	hsa-miR-4448	CLIP-seq
MIRT1189630	hsa-miR-4652-3p	CLIP-seq
MIRT2054853	hsa-miR-4686	CLIP-seq
MIRT1189638	hsa-miR-4731-5p	CLIP-seq
MIRT2054854	hsa-miR-4774-3p	CLIP-seq
MIRT2054855	hsa-miR-4792	CLIP-seq
MIRT1189640	hsa-miR-518a-5p	CLIP-seq
MIRT1189641	hsa-miR-527	CLIP-seq
MIRT2054856	hsa-miR-548ac	CLIP-seq
MIRT2054857	hsa-miR-548ae	CLIP-seq
MIRT2054858	hsa-miR-548aj	CLIP-seq
MIRT2054859	hsa-miR-548am	CLIP-seq
MIRT1189642	hsa-miR-548c-3p	CLIP-seq
MIRT2054860	hsa-miR-548d-3p	CLIP-seq
MIRT2054861	hsa-miR-548x	CLIP-seq
MIRT2054862	hsa-miR-548z	CLIP-seq
MIRT2054863	hsa-miR-568	CLIP-seq
MIRT2054864	hsa-miR-767-3p	CLIP-seq
MIRT1189644	hsa-miR-92a	CLIP-seq
MIRT1189645	hsa-miR-92b	CLIP-seq
MIRT2283926	hsa-miR-1263	CLIP-seq
MIRT1189592	hsa-miR-1264	CLIP-seq
MIRT1189597	hsa-miR-2682	CLIP-seq
MIRT1189605	hsa-miR-3163	CLIP-seq
MIRT1189608	hsa-miR-340	CLIP-seq
MIRT1189609	hsa-miR-34a	CLIP-seq
MIRT2283927	hsa-miR-3622b-5p	CLIP-seq
MIRT2283928	hsa-miR-3714	CLIP-seq
MIRT2283929	hsa-miR-425	CLIP-seq
MIRT2283930	hsa-miR-433	CLIP-seq
MIRT1189626	hsa-miR-449b	CLIP-seq
MIRT1189627	hsa-miR-449c	CLIP-seq
MIRT1189630	hsa-miR-4652-3p	CLIP-seq
MIRT2283931	hsa-miR-4720-5p	CLIP-seq
MIRT2283932	hsa-miR-4727-5p	CLIP-seq
MIRT2283933	hsa-miR-4769-3p	CLIP-seq
MIRT2283934	hsa-miR-4799-3p	CLIP-seq
MIRT2283935	hsa-miR-494	CLIP-seq
MIRT2283936	hsa-miR-509-3p	CLIP-seq
MIRT2283937	hsa-miR-544	CLIP-seq
MIRT2283938	hsa-miR-548an	CLIP-seq
MIRT1189642	hsa-miR-548c-3p	CLIP-seq
MIRT2283939	hsa-miR-577	CLIP-seq
MIRT2283940	hsa-miR-642b	CLIP-seq
MIRT2283941	hsa-miR-664	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
KLF5	Activation	21868761
SIRT1	Repression	23028940

Show/Hide all(328)

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	17984306
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001525	Process	Angiogenesis	IEA
GO:0001554	Process	Luteolysis	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IMP	17984306
GO:0001837	Process	Epithelial to mesenchymal transition	ISS
GO:0001889	Process	Liver development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0002040	Process	Sprouting angiogenesis	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002085	Process	Inhibition of neuroepithelial cell differentiation	IEA
GO:0002193	Component	MAML1-RBP-Jkappa- ICN1 complex	IDA	16510869
GO:0002437	Process	Inflammatory response to antigenic stimulus	IEA
GO:0003151	Process	Outflow tract morphogenesis	IMP	18593716
GO:0003157	Process	Endocardium development	IEA
GO:0003157	Process	Endocardium development	ISS
GO:0003160	Process	Endocardium morphogenesis	IEA
GO:0003160	Process	Endocardium morphogenesis	ISS
GO:0003162	Process	Atrioventricular node development	IEA
GO:0003169	Process	Coronary vein morphogenesis	IEA
GO:0003169	Process	Coronary vein morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	IMP	16025100, 17662764, 18593716
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	TAS	20951801
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003182	Process	Coronary sinus valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	IMP	16025100
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003192	Process	Mitral valve formation	IMP	16025100
GO:0003197	Process	Endocardial cushion development	IEA
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:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003207	Process	Cardiac chamber formation	IEA
GO:0003207	Process	Cardiac chamber formation	ISS
GO:0003208	Process	Cardiac ventricle morphogenesis	IEA
GO:0003208	Process	Cardiac ventricle morphogenesis	ISS
GO:0003209	Process	Cardiac atrium morphogenesis	IEA
GO:0003209	Process	Cardiac atrium morphogenesis	ISS
GO:0003213	Process	Cardiac right atrium morphogenesis	IEA
GO:0003213	Process	Cardiac right atrium morphogenesis	ISS
GO:0003214	Process	Cardiac left ventricle morphogenesis	IEA
GO:0003214	Process	Cardiac left ventricle morphogenesis	ISS
GO:0003219	Process	Cardiac right ventricle formation	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003241	Process	Growth involved in heart morphogenesis	IEA
GO:0003241	Process	Growth involved in heart morphogenesis	ISS
GO:0003252	Process	Negative regulation of cell proliferation involved in heart valve morphogenesis	IEA
GO:0003252	Process	Negative regulation of cell proliferation involved in heart valve morphogenesis	ISS
GO:0003264	Process	Regulation of cardioblast proliferation	IEA
GO:0003270	Process	Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation	IEA
GO:0003273	Process	Cell migration involved in endocardial cushion formation	IEA
GO:0003273	Process	Cell migration involved in endocardial cushion formation	ISS
GO:0003332	Process	Negative regulation of extracellular matrix constituent secretion	IEA
GO:0003332	Process	Negative regulation of extracellular matrix constituent secretion	ISS
GO:0003344	Process	Pericardium morphogenesis	IEA
GO:0003344	Process	Pericardium morphogenesis	ISS
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	18239137, 23839946
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	ISS
GO:0004857	Function	Enzyme inhibitor activity	IEA
GO:0004857	Function	Enzyme inhibitor activity	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	23839946
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005112	Function	Notch binding	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10713164, 11006133, 11101851, 11390662, 12370315, 16319921, 16510869, 16530044, 17284587, 17318174, 17909182, 18427106, 18660822, 19151708, 19907488, 20823234, 20972443, 21475249, 22325781, 23022380, 23086448, 23839946, 25038227, 25344755, 25609649, 25714926, 25895060, 26496610, 272
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	TAS	10713164
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	10713164
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006955	Process	Immune response	NAS	1831692
GO:0006959	Process	Humoral immune response	IEA
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IDA	11306509, 23839946
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IMP	16025100, 17662764, 19682396
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007219	Process	Notch signaling pathway	TAS	10713164
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:0007221	Process	Positive regulation of transcription of Notch receptor target	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007386	Process	Compartment pattern specification	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0007440	Process	Foregut morphogenesis	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007507	Process	Heart development	IMP	21457232
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	17849174
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	20613903
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	20616313
GO:0008544	Process	Epidermis development	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	IEA
GO:0009912	Process	Auditory receptor cell fate commitment	IEA
GO:0009957	Process	Epidermal cell fate specification	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IDA	11306509
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0010812	Process	Negative regulation of cell-substrate adhesion	IDA	16501043
GO:0010832	Process	Negative regulation of myotube differentiation	IEA
GO:0014031	Process	Mesenchymal cell development	IEA
GO:0014031	Process	Mesenchymal cell development	ISS
GO:0014807	Process	Regulation of somitogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017156	Process	Calcium-ion regulated exocytosis	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	ISS
GO:0021515	Process	Cell differentiation in spinal cord	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030182	Process	Neuron 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:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032966	Process	Negative regulation of collagen biosynthetic process	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035148	Process	Tube formation	IMP	20616313
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IDA	20616313
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042246	Process	Tissue regeneration	IEA
GO:0042670	Process	Retinal cone cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	16738328
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043069	Process	Negative regulation of programmed cell death	IEA
GO:0043086	Process	Negative regulation of catalytic activity	ISS
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045070	Process	Positive regulation of viral genome replication	IEA
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045607	Process	Regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045608	Process	Negative regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	IMP	10713164
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	ISS
GO:0045687	Process	Positive regulation of glial cell differentiation	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18239137, 20616313, 23839946
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045955	Process	Negative regulation of calcium ion-dependent exocytosis	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	ISS
GO:0046533	Process	Negative regulation of photoreceptor cell differentiation	IEA
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IDA	11306509
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048103	Process	Somatic stem cell division	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	ISS
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	ISS
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048845	Process	Venous blood vessel morphogenesis	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	ISS
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:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050768	Process	Negative regulation of neurogenesis	ISS
GO:0050793	Process	Regulation of developmental process	IEA
GO:0051152	Process	Positive regulation of smooth muscle cell differentiation	IDA	18239137
GO:0051152	Process	Positive regulation of smooth muscle cell differentiation	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	ISS
GO:0060038	Process	Cardiac muscle 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:0060253	Process	Negative regulation of glial cell proliferation	IEA
GO:0060253	Process	Negative regulation of glial cell proliferation	ISS
GO:0060271	Process	Cilium assembly	ISS
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	IEA
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	ISS
GO:0060354	Process	Negative regulation of cell adhesion molecule production	IMP	17984306
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	IEA
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	ISS
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0060411	Process	Cardiac septum morphogenesis	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IMP	16025100
GO:0060528	Process	Secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	IEA
GO:0060740	Process	Prostate gland epithelium morphogenesis	IEA
GO:0060768	Process	Regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0060842	Process	Arterial endothelial cell differentiation	IEA
GO:0060842	Process	Arterial endothelial cell differentiation	ISS
GO:0060843	Process	Venous endothelial cell differentiation	IEA
GO:0060843	Process	Venous endothelial cell differentiation	ISS
GO:0060948	Process	Cardiac vascular smooth muscle cell development	IEA
GO:0060948	Process	Cardiac vascular smooth muscle cell development	ISS
GO:0060956	Process	Endocardial cell differentiation	IEA
GO:0060956	Process	Endocardial cell differentiation	ISS
GO:0060979	Process	Vasculogenesis involved in coronary vascular morphogenesis	IEA
GO:0060979	Process	Vasculogenesis involved in coronary vascular morphogenesis	ISS
GO:0060982	Process	Coronary artery morphogenesis	IEA
GO:0060982	Process	Coronary artery morphogenesis	ISS
GO:0061101	Process	Neuroendocrine cell differentiation	IEA
GO:0061344	Process	Regulation of cell adhesion involved in heart morphogenesis	IEA
GO:0061384	Process	Heart trabecula morphogenesis	IEA
GO:0061384	Process	Heart trabecula morphogenesis	ISS
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	IEA
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	ISS
GO:0070168	Process	Negative regulation of biomineral tissue development	IEA
GO:0070168	Process	Negative regulation of biomineral tissue development	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	11306509
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070986	Process	Left/right axis specification	IEA
GO:0071228	Process	Cellular response to tumor cell	IDA	11306509
GO:0071228	Process	Cellular response to tumor cell	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IDA	20613903
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0071944	Component	Cell periphery	IEA
GO:0072017	Process	Distal tubule development	IEA
GO:0072044	Process	Collecting duct development	IEA
GO:0072091	Process	Regulation of stem cell proliferation	IEA
GO:0072144	Process	Glomerular mesangial cell development	IEA
GO:0072148	Process	Epithelial cell fate commitment	IEA
GO:0072538	Process	T-helper 17 type immune response	IEA
GO:0090051	Process	Negative regulation of cell migration involved in sprouting angiogenesis	IDA	20616313
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEP	19682396
GO:0097400	Process	Interleukin-17-mediated signaling pathway	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099565	Process	Chemical synaptic transmission, postsynaptic	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	25038826
GO:0140537	Function	Transcription regulator activator activity	IEA
GO:1901201	Process	Regulation of extracellular matrix assembly	IEA
GO:1901201	Process	Regulation of extracellular matrix assembly	ISS
GO:1902263	Process	Apoptotic process involved in embryonic digit morphogenesis	IEA
GO:1902339	Process	Positive regulation of apoptotic process involved in morphogenesis	IEA
GO:1902339	Process	Positive regulation of apoptotic process involved in morphogenesis	ISS
GO:1903849	Process	Positive regulation of aorta morphogenesis	IEA
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IMP	17984306
GO:2000737	Process	Negative regulation of stem cell differentiation	IMP	19682396
GO:2000811	Process	Negative regulation of anoikis	IMP	17984306
GO:2000974	Process	Negative regulation of pro-B cell differentiation	IEA
GO:2000974	Process	Negative regulation of pro-B cell differentiation	ISS
GO:2001027	Process	Negative regulation of endothelial cell chemotaxis	IDA	20616313

MIM	HGNC	e!Ensembl
190198	7881	ENSG00000148400

Protein

UniProt ID

P46531

Protein name

Neurogenic locus notch homolog protein 1 (Notch 1) (hN1) (Translocation-associated notch protein TAN-1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]

Protein function

Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional

PDB

1PB5 , 1TOZ , 1YYH , 2F8X , 2F8Y , 2HE0 , 2VJ3 , 3ETO , 3I08 , 3L95 , 3NBN , 3V79 , 4CUD , 4CUE , 4CUF , 4D0E , 4D0F , 5FM9 , 5FMA , 5KZO , 5L0R , 5UB5 , 6IDF , 6PY8 , 8OR5 , 8ORY , 8ORZ , 9B3G , 9B3N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00008	EGF	63 → 97	EGF-like domain	Domain
PF00008	EGF	106 → 137	EGF-like domain	Domain
PF00008	EGF	144 → 174	EGF-like domain	Domain
PF07645	EGF_CA	178 → 219	Calcium-binding EGF domain	Domain
PF00008	EGF	222 → 253	EGF-like domain	Domain
PF00008	EGF	261 → 291	EGF-like domain	Domain
PF07645	EGF_CA	295 → 335	Calcium-binding EGF domain	Domain
PF00008	EGF	339 → 369	EGF-like domain	Domain
PF07645	EGF_CA	412 → 450	Calcium-binding EGF domain	Domain
PF00008	EGF	456 → 486	EGF-like domain	Domain
PF00008	EGF	494 → 524	EGF-like domain	Domain
PF00008	EGF	532 → 562	EGF-like domain	Domain
PF00008	EGF	570 → 599	EGF-like domain	Domain
PF00008	EGF	607 → 637	EGF-like domain	Domain
PF00008	EGF	645 → 673	EGF-like domain	Domain
PF00008	EGF	682 → 712	EGF-like domain	Domain
PF00008	EGF	720 → 749	EGF-like domain	Domain
PF00008	EGF	757 → 787	EGF-like domain	Domain
PF00008	EGF	795 → 825	EGF-like domain	Domain
PF00008	EGF	833 → 865	EGF-like domain	Domain
PF07645	EGF_CA	869 → 906	Calcium-binding EGF domain	Domain
PF00008	EGF	911 → 941	EGF-like domain	Domain
PF12661	hEGF	992 → 1013	Human growth factor-like EGF	Domain
PF00008	EGF	1025 → 1055	EGF-like domain	Domain
PF00008	EGF	1063 → 1093	EGF-like domain	Domain
PF00008	EGF	1111 → 1141	EGF-like domain	Domain
PF00008	EGF	1149 → 1179	EGF-like domain	Domain
PF00008	EGF	1187 → 1217	EGF-like domain	Domain
PF00008	EGF	1225 → 1263	EGF-like domain	Domain
PF00008	EGF	1311 → 1344	EGF-like domain	Domain
PF12661	hEGF	1357 → 1375	Human growth factor-like EGF	Domain
PF00066	Notch	1446 → 1480	LNR domain	Domain
PF00066	Notch	1487 → 1522	LNR domain	Domain
PF00066	Notch	1525 → 1562	LNR domain	Domain
PF06816	NOD	1566 → 1621	NOTCH protein	Family
PF07684	NODP	1671 → 1729	NOTCH protein	Family
PF00023	Ank	1880 → 1926	Ankyrin repeat	Repeat
PF13637	Ank_4	1928 → 1981		Repeat
PF12796	Ank_2	1970 → 2058	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	1999 → 2092	Ankyrin repeats (3 copies)	Repeat
PF11936	DUF3454	2479 → 2540	Domain of unknown function (DUF3454)	Family

Tissue specificity

TISSUE SPECIFICITY: In fetal tissues most abundant in spleen, brain stem and lung. Also present in most adult tissues where it is found mainly in lymphoid tissues.

Sequence

MPPLLAPLLCLALLPALAARGPRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDP
NPCLSTPCKNAGTCHVVDRRGVADYACSCALGFSGPLCLTPLDNACLTNPCRNGGTCDLL
TLTEYKCRCPPGWSGKSCQQADPCASNPCANGGQCLPFEASYICHCPPSFHGPTCRQDVN
ECGQKPGLCRHGGTCHNEVGSYRCVCRATHTGPNCERPYVPCSPSPCQNGGTCRPTGDVT
HECACLPGFTGQNCEENIDDCPGNNCKNGGACVDGVNTYNCRCPPEWTGQYCTEDVDECQ
LMPNACQNGGTCHNTHGGYNCVCVNGWTGEDCSENIDDCASAACFHGATCHDRVASFYCE
CPHGRTGLLCHLNDACISNPCNEGSNCDTNPVNGKAICTCPSGYTGPACSQDVDECSLGA
NPCEHAGKCINTLGSFECQCLQGYTGPRCEIDVNECVSNPCQNDATCLDQIGEFQCICMP
GYEGVHCEVNTDECASSPCLHNGRCLDKINEFQCECPTGFTGHLCQYDVDECASTPCKNG
AKCLDGPNTYTCVCTEGYTGTHCEVDIDECDPDPCHYGSCKDGVATFTCLCRPGYTGHHC
ETNINECSSQPCRHGGTCQDRDNAYLCFCLKGTTGPNCEINLDDCASSPCDSGTCLDKID
GYECACEPGYTGSMCNINIDECAGNPCHNGGTCEDGINGFTCRCPEGYHDPTCLSEVNEC
NSNPCVHGACRDSLNGYKCDCDPGWSGTNCDINNNECESNPCVNGGTCKDMTSGYVCTCR
EGFSGPNCQTNINECASNPCLNQGTCIDDVAGYKCNCLLPYTGATCEVVLAPCAPSPCRN
GGECRQSEDYESFSCVCPTGWQGQTCEVDINECVLSPCRHGASCQNTHGGYRCHCQAGYS
GRNCETDIDDCRPNPCHNGGSCTDGINTAFCDCLPGFRGTFCEEDINECASDPCRNGANC
TDCVDSYTCTCPAGFSGIHCENNTPDCTESSCFNGGTCVDGINSFTCLCPPGFTGSYCQH
DVNECDSQPCLHGGTCQDGCGSYRCTCPQGYTGPNCQNLVHWCDSSPCKNGGKCWQTHTQ
YRCECPSGWTGLYCDVPSVSCEVAAQRQGVDVARLCQHGGLCVDAGNTHHCRCQAGYTGS
YCEDLVDECSPSPCQNGATCTDYLGGYSCKCVAGYHGVNCSEEIDECLSHPCQNGGTCLD
LPNTYKCSCPRGTQGVHCEINVDDCNPPVDPVSRSPKCFNNGTCVDQVGGYSCTCPPGFV
GERCEGDVNECLSNPCDARGTQNCVQRVNDFHCECRAGHTGRRCESVINGCKGKPCKNGG
TCAVASNTARGFICKCPAGFEGATCENDARTCGSLRCLNGGTCISGPRSPTCLCLGPFTG
PECQFPASSPCLGGNPCYNQGTCEPTSESPFYRCLCPAKFNGLLCHILDYSFGGGAGRDI
PPPLIEEACELPECQEDAGNKVCSLQCNNHACGWDGGDCSLNFNDPWKNCTQSLQCWKYF
SDGHCDSQCNSAGCLFDGFDCQRAEGQCNPLYDQYCKDHFSDGHCDQGCNSAECEWDGLD
CAEHVPERLAAGTLVVVVLMPPEQLRNSSFHFLRELSRVLHTNVVFKRDAHGQQMIFPYY
GREEELRKHPIKRAAEGWAAPDALLGQVKASLLPGGSEGGRRRRELDPMDVRGSIVYLEI
DNRQCVQASSQCFQSATDVAAFLGALASLGSLNIPYKIEAVQSETVEPPPPAQLHFMYVA
AAAFVLLFFVGCGVLLSRKRRRQHGQLWFPEGFKVSEASKKKRREPLGEDSVGLKPLKNA
SDGALMDDNQNEWGDEDLETKKFRFEEPVVLPDLDDQTDHRQWTQQHLDAADLRMSAMAP
TPPQGEVDADCMDVNVRGPDGFTPLMIASCSGGGLETGNSEEEEDAPAVISDFIYQGASL
HNQTDRTGETALHLAARYSRSDAAKRLLEASADANIQDNMGRTPLHAAVSADAQGVFQIL
IRNRATDLDARMHDGTTPLILAARLAVEGMLEDLINSHADVNAVDDLGKSALHWAAAVNN
VDAAVVLLKNGANKDMQNNREETPLFLAAREGSYETAKVLLDHFANRDITDHMDRLPRDI
AQERMHHDIVRLLDEYNLVRSPQLHGAPLGGTPTLSPPLCSPNGYLGSLKPGVQGKKVRK
PSSKGLACGSKEAKDLKARRKKSQDGKGCLLDSSGMLSPVDSLESPHGYLSDVASPPLLP
SPFQQSPSVPLNHLPGMPDTHLGIGHLNVAAKPEMAALGGGGRLAFETGPPRLSHLPVAS
GTSTVLGSSSGGALNFTVGGSTSLNGQCEWLSRLQSGMVPNQYNPLRGSVAPGPLSTQAP
SLQHGMVGPLHSSLAASALSQMMSYQGLPSTRLATQPHLVQTQQVQPQNLQMQQQNLQPA
NIQQQQSLQPPPPPPQPHLGVSSAASGHLGRSFLSGEPSQADVQPLGPSSLAVHTILPQE
SPALPTSLPSSLVPPVTAAQFLTPPSQHSYSSPVDNTPSHQLQVPEHPFLTPSPESPDQW
SSSSPHSNVSDWSEGVSSPPTSMQSQIARIPEAFK

Sequence length

2555

Interactions

View interactions

	KEGG		Reactome
	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation Thyroid hormone signaling pathway Prion disease Human papillomavirus infection Pathways in cancer MicroRNAs in cancer Breast cancer		Pre-NOTCH Transcription and Translation Pre-NOTCH Processing in Golgi NOTCH1 Intracellular Domain Regulates Transcription Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Constitutive Signaling by NOTCH1 HD Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Notch-HLH transcription pathway Defective LFNG causes SCDO3 RUNX3 regulates NOTCH signaling NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Adams-Oliver Syndrome	adams-oliver syndrome 5	rs1564191302, rs864622056, rs587778569, rs1589058964, rs587777735, rs1554728424, rs1589072024, rs587777736, rs1554729113, rs1554729443, rs1589064285, rs864622063, rs1554730184, rs864622061, rs1843317673 View all (15 more)	N/A
Aortic valve calcification	aortic valve disease 1	rs1057515423, rs1057515422, rs863224901, rs1057518661, rs41309764, rs1554826746, rs41309766	N/A
Hypoplastic Left Heart Syndrome	hypoplastic left heart syndrome	rs1843006535	N/A
neoplasm	Neoplasm	rs1554730670	N/A
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection	rs587781259, rs869025494	N/A
Tetralogy of Fallot	tetralogy of fallot	rs774966208	N/A

Show/Hide Unknown Diseases (14)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Adenocarcinoma	adenoid cystic carcinoma	N/A	N/A	ClinVar
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia-microphthalmia syndrome	N/A	N/A	ClinVar
Bicuspid aortic valve	familial bicuspid aortic valve	N/A	N/A	GenCC
Cholesteatoma	Cholesteatoma of middle ear	N/A	N/A	ClinVar
Connective Tissue Disease	Connective tissue disorder, connective tissue disorder	N/A	N/A	ClinVar, GenCC
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome, type 3	N/A	N/A	ClinVar
Inflammatory Bowel Disease	Inflammatory bowel disease, Inflammatory bowel disease (MTAG)	N/A	N/A	GWAS
Leukodystrophy	leukodystrophy	N/A	N/A	GenCC
Marfan Syndrome	marfan syndrome	N/A	N/A	ClinVar
Myeloproliferative Neoplasm	myeloproliferative neoplasm, unclassifiable	N/A	N/A	ClinVar
Pulmonary arterial hypertension	pulmonary arterial hypertension	N/A	N/A	ClinVar
thoracic aortic aneurysm	Thoracic aortic aneurysm	N/A	N/A	ClinVar
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (379)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
13q deletion syndrome	Associate	25633905
Achalasia Addisonianism Alacrimia syndrome	Stimulate	37980558
Adams Oliver syndrome	Associate	25963545, 26299364, 29924900, 40420130
Adenocarcinoma	Associate	23423517, 24423157, 25381598, 26315110, 26634853, 28061457, 28581676, 29327707
Adenocarcinoma of Lung	Associate	24423157, 27196489, 28302721, 28618922, 30473538, 33191397, 39188060
Adenocarcinoma Papillary	Associate	24423157
Adenoma	Associate	24312514
Adenoma	Stimulate	25487926, 32774060
Adenomatous Polyposis Coli	Associate	25487926
Adenomyosis	Associate	26307032
Adrenocortical Carcinoma	Associate	22496620
Aicardi Syndrome	Associate	28914715
AIDS Related Complex	Associate	39796164
Alzheimer Disease	Associate	22461631, 31770379
Anemia Aplastic	Associate	28699658, 37980558
Aneurysm	Associate	23102684
Aneurysm	Inhibit	24768363
Aneurysm Ascending Aorta	Associate	23102684, 30218064
Aniridia	Associate	35551459
Aortic Aneurysm	Associate	17662764
Aortic Aneurysm Thoracic	Associate	17662764, 26820064, 32720365, 37239988
Aortic Aneurysm Thoracic	Inhibit	23300792
Aortic Valve Calcification of	Associate	23798201, 25768904, 25957898, 28246602
Aortic Valve Disease	Associate	25871831, 32375772
Aortic Valve Stenosis	Associate	23102684, 23798201, 28246602, 32375772, 32720365
Aphasia Primary Progressive	Associate	31350420
Arrhythmias Cardiac	Associate	34328347
Arthritis Psoriatic	Associate	23161900
Arthritis Rheumatoid	Associate	11465706, 22275240, 23161900, 37796367, 38272919
Ascites	Associate	34363722
Asthma	Associate	30021811, 38346176, 39643224
Astrocytoma	Associate	19424825, 37667984
Ataxia Telangiectasia	Associate	21625236, 27602765
Atherosclerosis	Associate	25871831, 35388333
Atrioventricular Block	Associate	39354406
Attention Deficit Disorder with Hyperactivity	Associate	32375772
Autism Spectrum Disorder	Associate	36320054
Baetz Greenwalt syndrome	Associate	26820064, 28608148
Barrett Esophagus	Inhibit	25558829
Barrett Esophagus	Associate	29785394
Bicuspid Aortic Valve Disease	Associate	17662764, 23578328, 23798201, 25260786, 26876948, 30059548, 30218064, 31363123, 32720365, 32748548, 34461831, 36908813, 37239988
Biliary Atresia	Associate	26937142
Biliary Fistula	Associate	23423517
Biliary Tract Neoplasms	Associate	29344648, 36257294
Body Weight	Associate	24394305
Bone Diseases	Associate	37968650
Bowen's Disease	Associate	18192969
Brain Neoplasms	Associate	19424825, 28157712, 31480400, 31483290, 33004830
Breast Neoplasms	Associate	17534448, 17984306, 19025652, 19151708, 19784073, 20030805, 21679465, 22302350, 22424054, 24760075, 25120811, 25287362, 25400232, 25420528, 25645291 View all (28 more)
Breast Neoplasms	Stimulate	25167871
Burkitt Lymphoma	Associate	10627560
CADASIL	Associate	21504125, 23028706
Calcinosis	Associate	25871831, 34954251
Calcinosis Cutis	Associate	31483290
Capillary Malformation Arteriovenous Malformation	Associate	30573741
Carcinogenesis	Associate	11964309, 12208848, 18633435, 19151708, 20053782, 22938409, 23235341, 24801890, 25420528, 26469969, 26847059, 31760940, 34551776, 35435367, 36147467, 38281745, 9111040 View all (2 more)
Carcinogenesis	Stimulate	21398698
Carcinoid Tumor	Associate	16160079, 21367373, 29327707
Carcinoma	Associate	22006338
Carcinoma Adenoid Cystic	Associate	23778141, 24238845, 28820917, 28914715, 29141398, 30926674, 32025208, 32386517, 33469672, 33675181, 34798653, 36879115, 37660928, 39230995
Carcinoma Basal Cell	Associate	18192969, 19025652
Carcinoma Ductal	Associate	25120811, 25645984
Carcinoma Ductal Breast	Associate	25120811, 27050973
Carcinoma Embryonal	Associate	15361705
Carcinoma Hepatocellular	Associate	19376776, 22511905, 23179396, 23468978, 24024180, 25337219, 26011160, 26361419, 27821177, 27831648, 28423575, 28507277, 28974890, 29048612, 30297396 View all (6 more)
Carcinoma in Situ	Associate	18192969
Carcinoma Intraductal Noninfiltrating	Associate	25120811
Carcinoma Large Cell	Associate	35641209
Carcinoma Merkel Cell	Associate	36736454, 37311987
Carcinoma Neuroendocrine	Associate	19396152, 35608806
Carcinoma Non Small Cell Lung	Associate	20007775, 22438124, 25653136, 25869878, 27901069, 28061457, 28302721, 28402268, 30896962, 31170211, 31511014, 31599420, 32349744, 33237585, 35095099, 35961388, 36411521, 37491944 View all (3 more)
Carcinoma Non Small Cell Lung	Inhibit	28414324
Carcinoma Non Small Cell Lung	Stimulate	28849037
Carcinoma Ovarian Epithelial	Associate	32547317
Carcinoma Pancreatic Ductal	Stimulate	23235341
Carcinoma Pancreatic Ductal	Associate	33960694
Carcinoma Renal Cell	Associate	22506064, 25969368, 26045747, 26464664, 37416763, 39334021
Carcinoma Small Cell	Associate	28951314, 33980813
Carcinoma Squamous Cell	Associate	18192969, 19784073, 22006338, 23409141, 24662767, 25303977, 25589618, 26030731, 27488595, 28061457, 28410392, 32500594, 32649944, 39222919, 39694330
Cardiomyopathy Dilated	Associate	34461831
Cardiovascular Abnormalities	Associate	26820064
Cataract Age Related Nuclear	Stimulate	25167871
Central Nervous System Infections	Associate	37678673
Chest Pain	Associate	32871987
Cholangiocarcinoma	Associate	23423517, 23688168, 25031748, 30302867, 31211856, 31775892, 33498866, 35457006
Cholesteatoma	Associate	34172659, 37968650
Cholesteatoma Middle Ear	Associate	34172659, 37968650
Choriocarcinoma	Stimulate	15361705
Chromosome 12 12p trisomy	Associate	22086416, 24829201, 25633905, 25786252, 27198719, 28074183, 32036086, 35430388
Chromosome Aberrations	Associate	25633905, 36411516
Colitis Ulcerative	Associate	24312514
Colorectal Neoplasms	Associate	19020755, 19147571, 21378202, 22219033, 24312514, 26394830, 26650241, 26744411, 26797410, 27983919, 29202800, 29286145, 30275242, 30850667, 30987352, 32774060, 33087513, 34257585 View all (3 more)
Colorectal Neoplasms	Stimulate	21368208, 25487926, 29096354
Conotruncal cardiac defects	Associate	26820064, 36789878
Coronary Aneurysm	Associate	32871987
Coronary Artery Disease	Associate	32871987, 34954251
Coronary Artery Dissection Spontaneous	Associate	32487031
COVID 19	Associate	36282598
Craniocerebral Trauma	Associate	17922128
Cysts	Associate	27647802
Cytokine Release Syndrome	Stimulate	34954251
Death	Associate	22077063, 22207691
Death Sudden	Associate	34328347
Deltaretrovirus Infections	Associate	36243685
Dentigerous Cyst	Associate	23207846
Depression Postpartum	Associate	27644105
Depressive Disorder	Associate	17927689, 36634823
Developmental Disabilities	Associate	40420130
Diabetes Mellitus	Associate	37522815
Diabetic Nephropathies	Associate	27858840, 37622120
Disease	Associate	16614245, 25605254
Dissection Thoracic Aorta	Associate	23300792
Drug Hypersensitivity	Inhibit	30951821
Drug Related Side Effects and Adverse Reactions	Associate	19190243, 34001187, 34068438
Drug Resistant Epilepsy	Associate	24550227
Dry Eye Syndromes	Associate	19011014
Dyskinesias	Associate	25712052
Dysplastic Nevus Syndrome	Stimulate	16341148
Dystonic Disorders	Associate	36788060
Ectodermal Dysplasia	Associate	31483290
Endocrine System Diseases	Associate	37796700
Endometrial Neoplasms	Associate	27039384, 32572910
Endometriosis	Associate	25207642, 31023528
Eosinophilia	Associate	29088303
Epidermolysis bullosa with pyloric atresia	Associate	25575134
Epilepsy	Associate	31948324
Epilepsy Familial Adult Myoclonic 3	Associate	33172502
Epstein Barr Virus Infections	Associate	31311407, 33297669
Esophageal Neoplasms	Associate	30337457, 30848555, 34663841
Esophageal Squamous Cell Carcinoma	Associate	21939555, 23409141, 26528858, 26759717, 27734031, 29866946, 30350313, 31851786, 33725708, 34269310, 34663841, 36119057
Familial cylindromatosis	Associate	26336083
Familial Exudative Vitreoretinopathies	Associate	40420130
Fetal Growth Retardation	Associate	33273667, 34995552
Fibrosis	Associate	20531454
Fowler Christmas Chapple syndrome	Associate	33934524
Fragile X Syndrome	Associate	32487031
Frontotemporal Dementia	Associate	26820064
Gallbladder Neoplasms	Associate	26634853, 38092180
Gastritis	Associate	21466361
Gastro enteropancreatic neuroendocrine tumor	Associate	26450156
Gastroschisis	Associate	31075877
GATA2 Deficiency	Associate	31311407, 33526873
Gaucher Disease	Associate	34431214
Genetic Diseases Inborn	Associate	18688285, 25344525, 29907982
Genomic Instability	Associate	35014928
Glioblastoma	Associate	21280156, 23787764, 25380967, 26138445, 26469969, 26662803, 28157712, 28255276, 29857516, 32069381, 32998285, 35848447, 36214714, 37322413
Glioma	Associate	16729017, 18359760, 19773441, 20957337, 22093097, 23688168, 25192910, 26061751, 26676446, 26916895, 29198941, 29269413, 35419917, 36180477, 40530904
Glomerulonephritis	Associate	20531454
Glucosephosphate Dehydrogenase Deficiency	Associate	34296965
Glut1 Deficiency Syndrome	Associate	34565297
Graves Disease	Associate	34431214
Head and Neck Neoplasms	Associate	23955600, 25406187, 26925973, 28820917, 29697365, 36124629
Hearing Loss Noise Induced	Associate	30217173
Hearing Loss Sensorineural	Associate	36349665
Heart Defects Congenital	Associate	26820064, 31867804, 32341405, 32720365, 36478645, 40420130
Heart Diseases	Associate	25963545, 27760138, 32720365
Heart Failure	Associate	26820064, 30557359, 34328347
Heart Septal Defects Ventricular	Associate	32720365
Heart Valve Diseases	Associate	23102684, 36908813
Hemangioblastoma	Associate	21663414
Hemangioma	Associate	20069356
Hemangioma capillary infantile	Associate	37565874
Hematologic Neoplasms	Associate	14670925
Hemoglobin SC Disease	Associate	26634853
Hereditary leiomyomatosis and renal cell cancer	Associate	18641027, 24326827, 26160878, 32191807
Hip Injuries	Associate	26045779
Histiocytosis Langerhans Cell	Associate	17874453
HIV Infections	Associate	27773542
Hodgkin Disease	Associate	22955914, 24326827, 26160878, 36288644
Huntington Disease	Stimulate	19109228
Huntington Disease	Associate	32711424
Hypereosinophilic Syndrome	Associate	27174585, 29088303
Hypersensitivity Immediate	Associate	31976596
Hypersensitivity Immediate	Stimulate	32723315
Hypertension Pulmonary	Associate	34296965
Hypertrophy	Associate	34769441
Hypoplastic Left Heart Syndrome	Associate	28608148, 30511478, 36599283
Hypoxia	Associate	21368208, 22275240, 23409141, 25166211, 27489349, 28764685, 37012358
Hypoxia	Inhibit	22172337
Hypoxia	Stimulate	22363487, 23289374, 25734817, 26160878, 29307746, 35765115, 35982489
Hypoxia Brain	Stimulate	25337219, 26160878
Hypoxia Brain	Associate	29198941, 32386517, 35982489
Idiopathic Hypogonadotropic Hypogonadism	Associate	33208564
IgA Vasculitis	Associate	11465706
Immune System Diseases	Stimulate	37096442
Immunologic Deficiency Syndromes	Associate	38281745
Infections	Stimulate	28794048
Inferior Wall Myocardial Infarction	Associate	37119591
Inflammation	Associate	22965987, 24260356, 25768904, 32921999, 33654130, 34565297, 34907823, 36282598
Inflammatory Breast Neoplasms	Associate	28270211, 30086764, 31854063
Insulin Resistance	Associate	30678306
Intellectual Disability	Associate	36320054
Intestinal Diseases	Associate	21466361
Keratoconus	Inhibit	29321650
Keratosis	Inhibit	18192969
Keratosis Actinic	Associate	34480890
Kidney Diseases	Associate	20531454, 24798563
Kidney Neoplasms	Associate	32123166
Kimura Disease	Associate	24966950
Kotzot Richter syndrome	Associate	21670202, 23637131, 25633905
Kotzot Richter syndrome	Stimulate	22077063
Langerhans Cell Sarcoma	Associate	17874453
Laryngeal Neoplasms	Associate	31378897, 35911687, 35982489
Learning Disabilities	Associate	32341405
Leukemia	Associate	16738328, 17114293, 17557895, 18411416, 18414037, 19190243, 20618946, 24993241, 28334865, 31586130, 35020836, 35350997, 36595475, 37072664, 37833915, 38255842 View all (1 more)
Leukemia B Cell	Associate	24579978, 27469216, 32458636, 37523714, 38281745
Leukemia Biphenotypic Acute	Associate	36219502
Leukemia Lymphocytic Chronic B Cell	Associate	18796623, 21670202, 22006338, 22077063, 22086416, 22150006, 22207691, 23086750, 23637131, 23734977, 24030933, 24047479, 24127483, 24308033, 24421328 View all (62 more)
Leukemia Lymphoid	Associate	24308033, 32711424
Leukemia Lymphoma Adult T Cell	Associate	18411416, 22006338, 30032036, 30231940, 34995552, 36243685, 9111040
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	35815090, 39327604
Leukemia Myeloid Acute	Associate	15694671, 22581002, 24695418, 32711424, 37833915
Leukemia Prolymphocytic T Cell	Associate	24032483, 24579978, 25786252, 28771672, 29687880, 30924136
Leukemia T Cell	Associate	16614245, 17114293, 18411416, 19631984, 21625236, 22225590, 22349824, 22491738, 36322781, 36550553
Leukoplakia	Associate	25406187, 37088660
Liposarcoma	Associate	36464833
Liver Cirrhosis	Associate	31189722
Lung Diseases	Associate	32921999
Lung Injury	Associate	31997628
Lung Injury	Stimulate	32801053
Lung Neoplasms	Associate	23651443, 24621612, 25869878, 26472724, 27049834, 27901069, 28414324, 28415716, 28678318, 28718726, 31369215, 31939436
Lymphatic Metastasis	Associate	21378202, 21939555, 24277457, 24423157, 25645984, 25686823, 26394830, 32774060, 34152098, 35435367, 37416763
Lymphatic Metastasis	Stimulate	23918305, 26634853, 31874951
Lymphatic Metastasis	Inhibit	32733958
Lymphedema	Associate	30582441
Lymphoma	Associate	33191568
Lymphoma B Cell	Associate	27566587, 36266281
Lymphoma B Cell Marginal Zone	Associate	22891273, 27566587, 29674500, 29765142, 33570635, 38255842
Lymphoma Large B Cell Diffuse	Associate	19445024, 22343534, 25381127, 29045517, 32187361, 33570635, 38255842, 38281745, 39273276
Lymphoma Large B Cell Diffuse	Stimulate	26160878
Lymphoma Large Cell Anaplastic	Associate	11964309, 32327503
Lymphoma Mantle Cell	Associate	20427703, 22210878, 23407552, 34882582, 36266281, 36288644, 37288826, 38255842, 38281745
Lymphoma Non Hodgkin	Associate	19245433
Lymphoma Primary Effusion	Associate	20348880, 21631271
Lymphoma T Cell	Associate	23396305, 29088303, 33152759, 36000950, 38281745
Lymphoma T Cell Cutaneous	Associate	20538790, 22235305, 26302069
Lymphoproliferative Disorders	Associate	31655559, 38255842, 38281745
Mammary Neoplasms Animal	Associate	15535842
Medulloblastoma	Associate	19424825
Melanoma	Stimulate	16341148
Melanoma	Associate	22249266, 26283728, 26967479, 29620159, 30614626, 33177155, 34958806, 35138218, 35871080, 37415153
Melanoma Cutaneous Malignant	Inhibit	18192969
Meningeal Neoplasms	Associate	32711494
Meningioma	Associate	18516297
Metabolic Diseases	Associate	30342560
Metaplasia	Associate	29785394
Microphthalmia Syndromic 6	Associate	25963545
Mouth Diseases	Associate	25406187
Mouth Neoplasms	Associate	25631445, 29037125
Multiple Myeloma	Associate	14670925, 21631271, 28270494, 36752202
Muscle Neoplasms	Associate	27644105
Mycosis Fungoides	Associate	20538790, 26302069, 31930426
Myelodysplastic Syndromes	Associate	31506740
Myelodysplastic Syndromes	Inhibit	31756785
Myocardial Ischemia	Associate	32871987
Myopia	Associate	32375772, 35586671
Nasopharyngeal Carcinoma	Associate	20211102, 30950204, 32458967
Neoplasm Invasiveness	Associate	23179396, 23468978, 28618922
Neoplasm Metastasis	Associate	21378202, 22506064, 23179396, 23468978, 24277457, 25337219, 25645984, 25653136, 25887589, 26528858, 27049834, 27806347, 28793339, 31115486, 31369215 View all (16 more)
Neoplasm Metastasis	Stimulate	26634853
Neoplasm Metastasis	Inhibit	30980272
Neoplasms	Associate	11964309, 12768030, 16327489, 16738328, 17534448, 17874453, 17922128, 18192969, 18691378, 19147749, 19151708, 19424825, 19550121, 20211102, 20428807 View all (133 more)
Neoplasms	Inhibit	17090547, 18633435, 19190121, 21367373, 21632454, 22764137, 22877736, 25167871, 28423575, 29099504, 34562599
Neoplasms	Stimulate	21398698, 22506064, 25031748, 26418877, 26464664, 30473538, 35001007
Neoplasms Radiation Induced	Associate	36788076
Neoplasms Squamous Cell	Associate	11964309, 40239580
Neuralgia	Associate	29099504, 34202213
Neuroblastoma	Associate	26342562, 36121500
Neuroendocrine Tumors	Associate	17090547, 21632454, 22918166, 28414324, 36121500
Neurologic Manifestations	Associate	24244468
Nevus Pigmented	Associate	16341148
Non alcoholic Fatty Liver Disease	Associate	36451177
Oculocutaneous albinism type 2	Associate	31976596
Oculocutaneous albinism type 2	Stimulate	32723315
Odontogenic Cysts	Associate	31319505
Odontogenic Tumor Squamous	Associate	20554499
Odontogenic Tumors	Associate	23207846
Oligodendroglioma	Associate	25694352, 29016839
Oncogene Addiction	Associate	12768030
Ossification of Posterior Longitudinal Ligament	Associate	26045779
Osteoarthritis	Associate	29728632, 33953899, 34769441, 39754211
Osteogenesis Imperfecta	Associate	25768904
Osteoglophonic dwarfism	Associate	37741572
Osteosarcoma	Associate	22521131, 24894297, 33411691, 34495871, 35909477
Ovarian Diseases	Associate	27489349
Ovarian Neoplasms	Associate	16136053, 22188785, 22348144, 25545608, 25611897, 27489349, 27799771, 30068873, 31395064, 32547317, 34363722, 37105506, 37796700
Pancreatic Neoplasms	Associate	16327489, 16628653, 21463919, 24392017, 25638153, 25887885, 26147011, 29393429, 30484491, 33498866, 33960694, 34341330
Pancreatic Neoplasms	Inhibit	23094054
Pancreatitis	Associate	16160079, 23235341
Papilloma	Associate	25056374
Papillomavirus Infections	Associate	16378632, 30980272
Paraganglioma	Associate	23955600
Parkinson Disease	Associate	36634823
pediatric multisystem inflammatory disease COVID 19 related	Associate	36282598
Plasmablastic Lymphoma	Associate	21631271
Pleural Effusion	Associate	16701788
Poisoning	Associate	28424456
Polyps	Associate	18691378
Posterior Capsular Rupture Ocular	Associate	28764685
Pre Eclampsia	Associate	32587240
Precancerous Conditions	Associate	24312514
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	11964309, 15694671, 17901244, 19109228, 19794083, 21835957, 24277457, 24374627, 26330272, 26644537, 28245838, 28671688, 30103821, 30635552, 31796666 View all (4 more)
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	34753401
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15542425, 16614245, 16738328, 17114293, 17646408, 17874453, 17927689, 18322257, 18411416, 18414037, 19055661, 19075186, 19109228, 19245433, 19340001 View all (69 more)
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	35240234
Primary Myelofibrosis	Associate	34685741
Propping Zerres syndrome	Associate	19794083
Prostatic Hyperplasia	Associate	34606081
Prostatic Intraepithelial Neoplasia	Associate	26341090
Prostatic Neoplasms	Associate	14602722, 19147749, 22938409, 25686823, 27127882, 27384993, 36439868, 38050021
Prostatic Neoplasms Castration Resistant	Associate	28485785, 32626918, 35022313
Prostatitis	Associate	31104008
Proteinuria	Associate	20531454
Pulmonary Arterial Hypertension	Associate	28246602, 34199176, 34296965
Pulmonary Disease Chronic Obstructive	Associate	29874112, 31775690, 33116460, 34354706
Pulmonary Disease Chronic Obstructive	Inhibit	30350313
Pulmonary Fibrosis	Associate	31997628
Radicular Cyst	Associate	23207846
Renal Insufficiency Chronic	Associate	30557359
Reperfusion Injury	Associate	29532851
Retinoblastoma	Associate	27661116
Rhabdomyosarcoma	Associate	37882064
Rhabdomyosarcoma Embryonal	Stimulate	24797362
Rhinitis Allergic	Associate	30951821
Ring Chromosome 20 Syndrome	Associate	31483290, 37741572
Rotator Cuff Injuries	Associate	30424787
Rufous oculocutaneous albinism	Associate	31976596
Salivary Duct Calculi	Associate	31609094
Salivary Gland Neoplasms	Associate	34232601
Sarcoma	Associate	29099504, 34202213
Sarcoma Ewing	Associate	30106161
Schwannomatosis	Associate	32281771
Secretory breast carcinoma	Associate	36746884
Sezary Syndrome	Associate	20538790, 22718117
Sinonasal undifferentiated carcinoma	Associate	28084339
Skin Diseases	Associate	24801890, 37537257
Skin Neoplasms	Inhibit	18192969
Small Cell Lung Carcinoma	Associate	18570928, 28060745, 28414324, 28415716, 31199602, 31939436, 33104707, 33880365, 35641209
Spondylitis Ankylosing	Associate	26045779
Squamous Cell Carcinoma of Head and Neck	Associate	19550121, 21798893, 21798897, 23619168, 23645351, 24277457, 24292195, 24351288, 24667986, 25056374, 25275298, 25406187, 25633867, 27035284, 27391340 View all (29 more)
ST Elevation Myocardial Infarction	Associate	25958931
Stomach Neoplasms	Associate	21466361, 24642622, 26612211, 27363496, 27489358, 29336669, 29781036, 29917191, 30024600, 31123165, 31874951, 31964857, 32277646, 32423385, 32704077 View all (7 more)
Stomach Neoplasms	Stimulate	30988066, 32028262
Syncope	Associate	32871987
Teratoma	Associate	15361705
Tertiary Lymphoid Structures	Associate	21939555, 26528858
Testicular Germ Cell Tumor	Associate	15361705
Tetralogy of Fallot	Associate	19597493, 24400131, 30582441, 34328347
Thyroid cancer medullary	Associate	17090547, 18305053, 18520232
Thyroid Cancer Papillary	Associate	19190121, 23918305, 25803323, 25887589, 27586674
Thyroid Carcinoma Anaplastic	Associate	24419754, 27586674
Thyroid Neoplasms	Associate	19190121, 26847059, 30158530, 40415364
Thyroiditis Subacute	Associate	24394305
Tongue Neoplasms	Associate	27391340, 31023264, 34952204
Tourette Syndrome	Associate	31775690
Tricuspid Atresia	Associate	23798201
Tricuspid Valve Stenosis	Associate	23798201, 37239988
Triple Negative Breast Neoplasms	Associate	25068292, 26676751, 27491809, 27651315, 29307746, 30336197, 31105691, 31742868, 32032581, 35022313, 35186194, 37796506, 38291201
Triple Negative Breast Neoplasms	Stimulate	26418877
Tuberculosis	Associate	32801053
Tuberculosis Pulmonary	Associate	37522815
Univentricular Heart	Associate	28608148
Urethral Neoplasms	Associate	25167871
Urinary Bladder Diseases	Associate	31760940
Urinary Bladder Neoplasms	Associate	26729194, 28745938, 29242529, 34562599, 36430344
Uterine Cervical Neoplasms	Inhibit	12208848
Uterine Cervical Neoplasms	Associate	17425682, 24905589, 27581326, 31205475, 31898650, 31976596, 32951893, 33300051, 36972141
Uterine Cervicitis	Associate	28497579, 31976596
Uterine Diseases	Associate	18691378
Uveal melanoma	Associate	22937170
Uveal Neoplasms	Associate	22937170
Uveitis	Associate	32479651
Vascular Calcification	Associate	34954251
Vasculitis Leukocytoclastic Cutaneous	Associate	24662767
Venous Thrombosis	Associate	37951941
Ventricular Outflow Obstruction Left	Associate	26876948, 27760138, 30511478, 32720365
Ventricular Remodeling	Associate	37951845
Wilms Tumor	Associate	29845267, 30530967
Wounds and Injuries	Associate	34296965

NOTCH1 (notch receptor 1)