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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	182
Gene name	Jagged canonical Notch ligand 1
Gene symbol	JAG1
Synonyms (NCBI Gene)	AGSAGS1AHDAWSCD339CMT2HHDCHEHJ1JAGL1
Chromosome	20
Chromosome location	20p12.2
Summary	The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syn

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1131695	G>A,C,T	Pathogenic, likely-benign, benign	Coding sequence variant, synonymous variant, stop gained
rs28939668	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918350	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918351	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918352	A>G	Pathogenic	Coding sequence variant, missense variant
rs121918353	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs142808131	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142855305	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147793030	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs148990028	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs151291264	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs199505265	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs202063628	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267605834	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs372121353	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372984801	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs533306015	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs542831744	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs727504412	ACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs746664646	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs753161584	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs755427292	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, synonymous variant
rs766479402	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs769531968	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs771544217	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs775363555	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs863223648	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs863223649	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223655	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223661	TCCGTGGGGAACGCATCGCTGCGCCGCGCG>-	Pathogenic	Initiator codon variant, 5 prime UTR variant, inframe deletion
rs863223662	->A	Pathogenic	Coding sequence variant, frameshift variant
rs863223663	->A	Pathogenic	Coding sequence variant, stop gained
rs863223664	GC>A	Pathogenic	Coding sequence variant, frameshift variant
rs863223665	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223666	->G	Pathogenic	Coding sequence variant, frameshift variant
rs863223667	CC>-,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs863223668	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223669	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223672	->A	Pathogenic	Coding sequence variant, frameshift variant
rs863223673	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223674	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223675	A>-	Pathogenic	Coding sequence variant, stop gained
rs863223676	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs863223677	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223678	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223680	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs863223682	AGGAGT>GGAG	Pathogenic	Coding sequence variant, frameshift variant
rs863223683	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs876660977	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs876660978	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660979	C>A,T	Pathogenic	Splice donor variant
rs876660980	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs876660981	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs876661061	G>A	Pathogenic	Coding sequence variant, stop gained
rs876661066	C>T	Pathogenic	Splice donor variant
rs876661095	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs876661096	G>A	Pathogenic	Coding sequence variant, stop gained
rs876661121	C>A,T	Pathogenic	Splice donor variant
rs876661123	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs876661126	CA>-	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs876661142	T>A	Pathogenic	Coding sequence variant, stop gained
rs876661165	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs876661182	T>A	Pathogenic	Coding sequence variant, stop gained
rs876661229	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs878853752	->A	Pathogenic	Coding sequence variant, stop gained
rs886039393	TTTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039539	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039696	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039724	GA>TT	Pathogenic	Coding sequence variant, stop gained
rs886039887	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886041727	->G	Pathogenic	Coding sequence variant, frameshift variant
rs886041782	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041868	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs886042050	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042155	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886043130	GGCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043603	G>A	Pathogenic	Coding sequence variant, stop gained
rs886043605	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886043606	G>A	Pathogenic	Coding sequence variant, stop gained
rs886043869	G>T	Pathogenic	Coding sequence variant, stop gained
rs886043904	G>T	Pathogenic	Coding sequence variant, stop gained
rs886044111	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886044136	G>A	Pathogenic	Coding sequence variant, stop gained
rs886044220	T>C,G	Uncertain-significance, pathogenic	Intron variant
rs886044349	C>-	Pathogenic	Splice donor variant, coding sequence variant
rs886044704	C>G,T	Uncertain-significance, pathogenic	Intron variant
rs1060501347	->A	Pathogenic	Stop gained, coding sequence variant
rs1060501349	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501350	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060501351	A>T	Pathogenic	Stop gained, coding sequence variant
rs1060501352	G>T	Pathogenic	Stop gained, coding sequence variant
rs1064796702	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307595	A>-	Pathogenic	Stop gained, coding sequence variant
rs1131691963	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1289016419	G>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs1294950721	C>A,T	Pathogenic	Splice donor variant
rs1437309558	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555827650	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555827653	ACTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555827717	->TGAAGGGGAAGGCTCGC	Pathogenic	Coding sequence variant, frameshift variant
rs1555827729	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555827760	C>-	Pathogenic	Stop gained, coding sequence variant
rs1555827769	AGGGGTGGACGAAGC>TGCCCTGG	Pathogenic	Coding sequence variant, frameshift variant
rs1555827789	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555827790	CACCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555828173	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555828209	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555828250	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555828321	CA>-	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1555828546	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555828577	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555828640	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555828646	TTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555828652	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1555829037	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555829039	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555829065	T>C	Likely-pathogenic	Intron variant
rs1555829660	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555830919	A>G	Pathogenic	Splice donor variant
rs1555830922	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555830929	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555830957	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1555830976	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555831014	C>T	Pathogenic	Initiator codon variant, missense variant
rs1568791022	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1568791393	GAGGCCGCCTCTGAACTCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568791694	->AAGGCTC	Likely-pathogenic	Stop gained, coding sequence variant
rs1568791920	C>G	Pathogenic	Splice donor variant
rs1568792125	G>A	Pathogenic	Stop gained, coding sequence variant
rs1568792238	C>A	Pathogenic	Splice donor variant
rs1568792286	CA>-	Pathogenic	Stop gained, coding sequence variant
rs1568792344	CTC>TGCATCA	Pathogenic	Coding sequence variant, frameshift variant
rs1568793232	CTTA>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1568793265	A>T	Pathogenic	Stop gained, coding sequence variant
rs1568793309	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1568793670	C>T	Pathogenic	Splice acceptor variant
rs1568794128	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1568794159	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568795820	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568796158	G>A	Pathogenic	Stop gained, coding sequence variant
rs1568796236	CA>-	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1568796241	TGA>G	Pathogenic	Coding sequence variant, frameshift variant
rs1568796298	T>C	Pathogenic	Splice acceptor variant
rs1568798024	G>T	Pathogenic	Stop gained, coding sequence variant
rs1568798289	CA>-	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1568798388	C>A	Pathogenic	Splice acceptor variant
rs1568801068	C>T	Pathogenic	Stop gained, coding sequence variant
rs1568801096	->A	Pathogenic	Stop gained, coding sequence variant
rs1568807044	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1568807161	T>C	Pathogenic	Splice acceptor variant
rs1568807463	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568807483	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600178720	->GGGAAGGCTCG	Pathogenic	Coding sequence variant, frameshift variant
rs1600178730	->AGGCT	Pathogenic	Coding sequence variant, frameshift variant
rs1600179237	->GC	Pathogenic	Coding sequence variant, frameshift variant
rs1600179847	CTGTGCCCTGGAGGGCAGACACA>ATGTGC	Pathogenic	Coding sequence variant, frameshift variant
rs1600179855	A>T	Pathogenic	Stop gained, coding sequence variant
rs1600179892	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600181733	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600182107	C>T	Pathogenic	Stop gained, coding sequence variant
rs1600182812	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600185804	->ACT	Pathogenic	Stop gained, coding sequence variant
rs1600186024	C>T	Pathogenic	Splice donor variant
rs1600196349	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1600196426	ACTGATACTCCTTGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600196443	T>A	Pathogenic	Stop gained, coding sequence variant
rs1600196455	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs1600196580	C>A	Pathogenic	Stop gained, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000074	hsa-miR-34a-5p	Luciferase reporter assayqRT-PCRWestern blot	20351093
MIRT005457	hsa-miR-200c-3p	ImmunohistochemistryqRT-PCR	21224848
MIRT000176	hsa-miR-21-5p	FlowImmunoblotLuciferase reporter assayMicroarrayqRT-PCR	19398721
MIRT000074	hsa-miR-34a-5p	FlowImmunoblotLuciferase reporter assayMicroarrayqRT-PCR	19398721
MIRT006291	hsa-miR-34b-3p	Luciferase reporter assayqRT-PCRWestern blot	22113133
MIRT006291	hsa-miR-34b-3p	Luciferase reporter assayqRT-PCRWestern blot	22113133
MIRT006291	hsa-miR-34b-3p	Luciferase reporter assayqRT-PCRWestern blot	22113133
MIRT006846	hsa-miR-143-3p	ImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot	21685392
MIRT006847	hsa-miR-145-5p	ImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot	21685392
MIRT006891	hsa-miR-524-5p	SNB19	22871495
MIRT006891	hsa-miR-524-5p	SNB19	22871495
MIRT000176	hsa-miR-21-5p	5.0	22618231
MIRT019703	hsa-miR-375	Microarray	20215506
MIRT027545	hsa-miR-98-5p	Microarray	19088304
MIRT000176	hsa-miR-21-5p	Microarray	18591254
MIRT051999	hsa-let-7b-5p	CLASH	23622248
MIRT053254	hsa-miR-199b-5p	OV2008	24659709
MIRT053254	hsa-miR-199b-5p	OV2008	24659709
MIRT053288	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	22336710
MIRT053289	hsa-miR-214-3p	Luciferase reporter assayqRT-PCRWestern blot	22336710
MIRT000074	hsa-miR-34a-5p	FlowIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot	24307639
MIRT438596	hsa-miR-199a-5p	ChIP-seqFACSImmunofluorescenceImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot	23764775
MIRT438596	hsa-miR-199a-5p	ChIP-seqFACSImmunofluorescenceImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot	23764775
MIRT438596	hsa-miR-199a-5p	ChIP-seqFACSImmunofluorescenceImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot	23764775
MIRT438596	hsa-miR-199a-5p	ChIP-seqFACSImmunofluorescenceImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot	23764775
MIRT719747	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT442778	hsa-miR-137	PAR-CLIP	22100165
MIRT442777	hsa-miR-4282	PAR-CLIP	22100165
MIRT442776	hsa-miR-5003-3p	PAR-CLIP	22100165
MIRT442775	hsa-miR-8063	PAR-CLIP	22100165
MIRT442774	hsa-miR-4698	PAR-CLIP	22100165
MIRT442773	hsa-miR-4480	PAR-CLIP	22100165
MIRT442772	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442771	hsa-miR-607	PAR-CLIP	22100165
MIRT442770	hsa-miR-1305	PAR-CLIP	22100165
MIRT442778	hsa-miR-137	PAR-CLIP	22100165
MIRT442777	hsa-miR-4282	PAR-CLIP	22100165
MIRT442776	hsa-miR-5003-3p	PAR-CLIP	22100165
MIRT442775	hsa-miR-8063	PAR-CLIP	22100165
MIRT442774	hsa-miR-4698	PAR-CLIP	22100165
MIRT442773	hsa-miR-4480	PAR-CLIP	22100165
MIRT442772	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442771	hsa-miR-607	PAR-CLIP	22100165
MIRT442770	hsa-miR-1305	PAR-CLIP	22100165
MIRT006891	hsa-miR-524-5p	qRT-PCR	25172935
MIRT005457	hsa-miR-200c-3p	ImmunofluorescenceqRT-PCR	26302069
MIRT053254	hsa-miR-199b-5p	Luciferase reporter assayqRT-PCRWestern blot	27957826
MIRT053254	hsa-miR-199b-5p	Luciferase reporter assayqRT-PCRWestern blot	27957826
MIRT053288	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	26612211
MIRT053288	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	26612211
MIRT732280	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCRWestern blot	27270422
MIRT732280	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCRWestern blot	27270422
MIRT732280	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCRWestern blot	27270422
MIRT732280	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCRWestern blot	27270422
MIRT733291	hsa-miR-512-5p	In situ hybridizationLuciferase reporter assayqRT-PCRWestern blotting	33795521
MIRT719747	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT442778	hsa-miR-137	PAR-CLIP	22100165
MIRT442777	hsa-miR-4282	PAR-CLIP	22100165
MIRT442776	hsa-miR-5003-3p	PAR-CLIP	22100165
MIRT442775	hsa-miR-8063	PAR-CLIP	22100165
MIRT442774	hsa-miR-4698	PAR-CLIP	22100165
MIRT442773	hsa-miR-4480	PAR-CLIP	22100165
MIRT442772	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442771	hsa-miR-607	PAR-CLIP	22100165
MIRT442770	hsa-miR-1305	PAR-CLIP	22100165
MIRT442778	hsa-miR-137	PAR-CLIP	22100165
MIRT442777	hsa-miR-4282	PAR-CLIP	22100165
MIRT442776	hsa-miR-5003-3p	PAR-CLIP	22100165
MIRT442775	hsa-miR-8063	PAR-CLIP	22100165
MIRT442774	hsa-miR-4698	PAR-CLIP	22100165
MIRT442773	hsa-miR-4480	PAR-CLIP	22100165
MIRT442772	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442771	hsa-miR-607	PAR-CLIP	22100165
MIRT442770	hsa-miR-1305	PAR-CLIP	22100165
MIRT1075885	hsa-miR-103a	CLIP-seq
MIRT1075886	hsa-miR-107	CLIP-seq
MIRT1075887	hsa-miR-1184	CLIP-seq
MIRT1075888	hsa-miR-1197	CLIP-seq
MIRT1075889	hsa-miR-1205	CLIP-seq
MIRT1075890	hsa-miR-1206	CLIP-seq
MIRT1075891	hsa-miR-1208	CLIP-seq
MIRT1075892	hsa-miR-124	CLIP-seq
MIRT1075893	hsa-miR-1297	CLIP-seq
MIRT1075894	hsa-miR-141	CLIP-seq
MIRT1075895	hsa-miR-1825	CLIP-seq
MIRT1075896	hsa-miR-200a	CLIP-seq
MIRT1075897	hsa-miR-204	CLIP-seq
MIRT1075898	hsa-miR-211	CLIP-seq
MIRT1075899	hsa-miR-26a	CLIP-seq
MIRT1075900	hsa-miR-26b	CLIP-seq
MIRT1075901	hsa-miR-297	CLIP-seq
MIRT1075902	hsa-miR-3149	CLIP-seq
MIRT1075903	hsa-miR-3158-5p	CLIP-seq
MIRT1075904	hsa-miR-3160-3p	CLIP-seq
MIRT1075905	hsa-miR-3194-3p	CLIP-seq
MIRT1075906	hsa-miR-3622a-3p	CLIP-seq
MIRT1075907	hsa-miR-3622b-3p	CLIP-seq
MIRT1075908	hsa-miR-3670	CLIP-seq
MIRT1075909	hsa-miR-3671	CLIP-seq
MIRT1075910	hsa-miR-3913-3p	CLIP-seq
MIRT1075911	hsa-miR-3973	CLIP-seq
MIRT1075912	hsa-miR-410	CLIP-seq
MIRT1075913	hsa-miR-4300	CLIP-seq
MIRT1075914	hsa-miR-4303	CLIP-seq
MIRT1075915	hsa-miR-4307	CLIP-seq
MIRT1075916	hsa-miR-4421	CLIP-seq
MIRT1075917	hsa-miR-4422	CLIP-seq
MIRT1075918	hsa-miR-4465	CLIP-seq
MIRT1075919	hsa-miR-4487	CLIP-seq
MIRT1075920	hsa-miR-4509	CLIP-seq
MIRT1075921	hsa-miR-4694-5p	CLIP-seq
MIRT1075922	hsa-miR-4716-5p	CLIP-seq
MIRT1075923	hsa-miR-4717-5p	CLIP-seq
MIRT1075924	hsa-miR-4744	CLIP-seq
MIRT1075925	hsa-miR-4753-3p	CLIP-seq
MIRT1075926	hsa-miR-4755-5p	CLIP-seq
MIRT1075927	hsa-miR-4795-5p	CLIP-seq
MIRT1075928	hsa-miR-489	CLIP-seq
MIRT1075929	hsa-miR-498	CLIP-seq
MIRT1075930	hsa-miR-506	CLIP-seq
MIRT1075931	hsa-miR-518a-5p	CLIP-seq
MIRT1075932	hsa-miR-520g	CLIP-seq
MIRT1075933	hsa-miR-520h	CLIP-seq
MIRT1075934	hsa-miR-527	CLIP-seq
MIRT1075935	hsa-miR-548an	CLIP-seq
MIRT1075936	hsa-miR-558	CLIP-seq
MIRT1075937	hsa-miR-567	CLIP-seq
MIRT1075938	hsa-miR-579	CLIP-seq
MIRT1075939	hsa-miR-593	CLIP-seq
MIRT1075940	hsa-miR-623	CLIP-seq
MIRT1075941	hsa-miR-628-5p	CLIP-seq
MIRT1075942	hsa-miR-634	CLIP-seq
MIRT1075943	hsa-miR-920	CLIP-seq
MIRT1075944	hsa-miR-922	CLIP-seq
MIRT1550358	hsa-miR-520d-5p	CLIP-seq
MIRT1075885	hsa-miR-103a	CLIP-seq
MIRT1075886	hsa-miR-107	CLIP-seq
MIRT1075887	hsa-miR-1184	CLIP-seq
MIRT1075889	hsa-miR-1205	CLIP-seq
MIRT1075893	hsa-miR-1297	CLIP-seq
MIRT1075899	hsa-miR-26a	CLIP-seq
MIRT1075900	hsa-miR-26b	CLIP-seq
MIRT2018832	hsa-miR-27a	CLIP-seq
MIRT2018833	hsa-miR-27b	CLIP-seq
MIRT1075903	hsa-miR-3158-5p	CLIP-seq
MIRT1075905	hsa-miR-3194-3p	CLIP-seq
MIRT2018834	hsa-miR-3545-3p	CLIP-seq
MIRT1075906	hsa-miR-3622a-3p	CLIP-seq
MIRT1075907	hsa-miR-3622b-3p	CLIP-seq
MIRT2018835	hsa-miR-3691-3p	CLIP-seq
MIRT2018836	hsa-miR-377	CLIP-seq
MIRT1075910	hsa-miR-3913-3p	CLIP-seq
MIRT2018837	hsa-miR-4267	CLIP-seq
MIRT2018838	hsa-miR-4277	CLIP-seq
MIRT2018839	hsa-miR-4323	CLIP-seq
MIRT1075916	hsa-miR-4421	CLIP-seq
MIRT1075918	hsa-miR-4465	CLIP-seq
MIRT2018840	hsa-miR-4494	CLIP-seq
MIRT2018841	hsa-miR-4635	CLIP-seq
MIRT2018842	hsa-miR-4661-5p	CLIP-seq
MIRT2018843	hsa-miR-4691-5p	CLIP-seq
MIRT2018844	hsa-miR-4726-3p	CLIP-seq
MIRT1075925	hsa-miR-4753-3p	CLIP-seq
MIRT1075928	hsa-miR-489	CLIP-seq
MIRT2018845	hsa-miR-499a-5p	CLIP-seq
MIRT2018846	hsa-miR-513a-5p	CLIP-seq
MIRT2018847	hsa-miR-548ac	CLIP-seq
MIRT2018848	hsa-miR-548d-3p	CLIP-seq
MIRT2018849	hsa-miR-548z	CLIP-seq
MIRT1075938	hsa-miR-579	CLIP-seq
MIRT1075939	hsa-miR-593	CLIP-seq
MIRT1075941	hsa-miR-628-5p	CLIP-seq
MIRT1075942	hsa-miR-634	CLIP-seq
MIRT1075944	hsa-miR-922	CLIP-seq
MIRT1075888	hsa-miR-1197	CLIP-seq
MIRT1075890	hsa-miR-1206	CLIP-seq
MIRT1075894	hsa-miR-141	CLIP-seq
MIRT1075896	hsa-miR-200a	CLIP-seq
MIRT1075901	hsa-miR-297	CLIP-seq
MIRT1075902	hsa-miR-3149	CLIP-seq
MIRT2250751	hsa-miR-34a	CLIP-seq
MIRT2250752	hsa-miR-34c-5p	CLIP-seq
MIRT1075911	hsa-miR-3973	CLIP-seq
MIRT1075912	hsa-miR-410	CLIP-seq
MIRT2250753	hsa-miR-412	CLIP-seq
MIRT2250754	hsa-miR-449a	CLIP-seq
MIRT2250755	hsa-miR-449b	CLIP-seq
MIRT1550358	hsa-miR-520d-5p	CLIP-seq
MIRT2250756	hsa-miR-548l	CLIP-seq
MIRT1075937	hsa-miR-567	CLIP-seq
MIRT1075938	hsa-miR-579	CLIP-seq
MIRT2250757	hsa-miR-586	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
KDM4C	Activation	23698634
PPARG	Unknown	20436223
RUNX3	Repression	21637926
SNAI2	Activation	20509143

Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	NAS	8955070
GO:0001709	Process	Cell fate determination	NAS	9207788
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IDA	11549580
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002011	Process	Morphogenesis of an epithelial sheet	IEA
GO:0002085	Process	Inhibition of neuroepithelial cell differentiation	IEA
GO:0002456	Process	T cell mediated immunity	IMP	23086448
GO:0003180	Process	Aortic valve morphogenesis	NAS	20951801
GO:0003184	Process	Pulmonary valve morphogenesis	IMP	9207787, 20437614
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0005112	Function	Notch binding	IBA
GO:0005112	Function	Notch binding	IEA
GO:0005112	Function	Notch binding	IPI	11006133
GO:0005112	Function	Notch binding	NAS	9268641
GO:0005198	Function	Structural molecule activity	NAS	10679295
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	18660822, 23086448
GO:0005543	Function	Phospholipid binding	IMP	22465068
GO:0005576	Component	Extracellular region	NAS	11427524
GO:0005886	Component	Plasma membrane	IDA	20437614, 32065591
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	11427524
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0007154	Process	Cell communication	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IMP	9207787, 19682396, 20437614
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007219	Process	Notch signaling pathway	NAS	9268641
GO:0007399	Process	Nervous system development	NAS	8923452
GO:0008083	Function	Growth factor activity	NAS	11067884
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IMP	22465068
GO:0016020	Component	Membrane	TAS	9268641
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022408	Process	Negative regulation of cell-cell adhesion	IDA	11549580
GO:0030097	Process	Hemopoiesis	NAS	10329626
GO:0030182	Process	Neuron differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	NAS	12107827
GO:0030336	Process	Negative regulation of cell migration	IDA	11549580
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0042127	Process	Regulation of cell population proliferation	NAS	10329626
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045445	Process	Myoblast differentiation	NAS	10329626
GO:0045446	Process	Endothelial cell differentiation	NAS	10329626
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045602	Process	Negative regulation of endothelial cell differentiation	IEA
GO:0045639	Process	Positive regulation of myeloid cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20437614
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0060090	Function	Molecular adaptor activity	EXP	16427310
GO:0060090	Function	Molecular adaptor activity	IDA	16427310
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0060411	Process	Cardiac septum morphogenesis	ISS
GO:0061073	Process	Ciliary body morphogenesis	IEA
GO:0061101	Process	Neuroendocrine cell differentiation	IEA
GO:0061156	Process	Pulmonary artery morphogenesis	IMP	9207787
GO:0061309	Process	Cardiac neural crest cell development involved in outflow tract morphogenesis	IEA
GO:0061309	Process	Cardiac neural crest cell development involved in outflow tract morphogenesis	ISS
GO:0061444	Process	Endocardial cushion cell development	IEA
GO:0061444	Process	Endocardial cushion cell development	ISS
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	ISS
GO:0072006	Process	Nephron development	IEA
GO:0072006	Process	Nephron development	ISS
GO:0072015	Process	Podocyte development	IEA
GO:0072015	Process	Podocyte development	ISS
GO:0072017	Process	Distal tubule development	IEA
GO:0072070	Process	Loop of Henle development	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEP	19682396
GO:2000737	Process	Negative regulation of stem cell differentiation	IMP	19682396

MIM	HGNC	e!Ensembl
601920	6188	ENSG00000101384

P78504

Protein name

Protein jagged-1 (Jagged1) (hJ1) (CD antigen CD339)

Protein function

Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). Seems to be involved in early and late stages

PDB

2KB9 , 2VJ2 , 4CBZ , 4CC0 , 4CC1 , 4XI7 , 5BO1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07657	MNNL	32 → 107	N terminus of Notch ligand	Family
PF01414	DSL	167 → 229	Delta serrate ligand	Domain
PF00008	EGF	300 → 332	EGF-like domain	Domain
PF00008	EGF	340 → 370	EGF-like domain	Domain
PF00008	EGF	378 → 408	EGF-like domain	Domain
PF07645	EGF_CA	412 → 450	Calcium-binding EGF domain	Domain
PF00008	EGF	450 → 483	EGF-like domain	Domain
PF00008	EGF	491 → 521	EGF-like domain	Domain
PF00008	EGF	529 → 559	EGF-like domain	Domain
PF00008	EGF	633 → 663	EGF-like domain	Domain
PF00008	EGF	671 → 701	EGF-like domain	Domain
PF00008	EGF	748 → 777	EGF-like domain	Domain
PF00008	EGF	786 → 816	EGF-like domain	Domain
PF12661	hEGF	829 → 849	Human growth factor-like EGF	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. In cervix epithelium expressed in undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical squamous cell carcinoma. Expressed in bone marrow

Sequence

MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARN
PGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRI
VLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFE
YQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSP
KHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYC
GTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFEC
ECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKP
CVNAKSCKNLIASYYCDCLPGWMGQNCDININDCLGQCQNDASCRDLVNGYRCICPPGYA
GDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLDIDYCEPNPCQNGAQC
YNRASDYFCKCPEDYEGKNCSHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCG
PHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRNGGTCIDGVNSYKCICSDGWE
GAYCETNINDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTC
YDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPCHNGGTCVVNGESFTCVCKEGWEGPICA
QNTNDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRININECQSSPCAFGATCVDEIN
GYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDCNTCQCLNGRIACSKVWCGPR
PCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCAN
ITFTFNKEMMSPGLTTEHICSELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAED
IRDDGNPIKEITDKIIDLVSKRDGNSSLIAAVAEVRVQRRPLKNRTDFLVPLLSSVLTVA
WICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLNQIKNPIEKHGANTVPIKDYE
NKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQ
DNRDLESAQSLNRMEYIV

Sequence length

1218

Interactions

View interactions

	KEGG		Reactome
	Endocrine resistance Notch signaling pathway Apelin signaling pathway Th1 and Th2 cell differentiation TNF signaling pathway Human papillomavirus infection Pathways in cancer Chemical carcinogenesis - receptor activation Breast cancer		Constitutive Signaling by NOTCH1 PEST Domain Mutants 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 RUNX3 regulates NOTCH signaling NOTCH3 Activation and Transmission of Signal to the Nucleus

2906

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alagille syndrome due to a JAG1 point mutation	Pathogenic; Likely pathogenic	rs2067293664, rs2067268275, rs2122608799, rs2122597276, rs1555827782, rs2122607604, rs2122593684, rs2122595262, rs2122595945, rs2122597170, rs2122602312, rs2122606192, rs2122606277, rs2122610459, rs764485729 View all (231 more)	RCV001329703 RCV005256773 RCV001375478 RCV001376239 RCV001376921 RCV001376996 RCV001381404 RCV001383277 RCV001385742 RCV001384082 RCV001389094 RCV001387394 RCV001383128 RCV001384590 RCV001387935 RCV001386228 RCV001382741 RCV001388474 RCV001386067 RCV001381574 RCV001796554 RCV001580380 RCV001771819 RCV003330100 RCV001807916 RCV001808235 RCV001837375 RCV001863756 RCV001902789 RCV001999745 RCV001902823 RCV001890870 RCV001950790 RCV001908477 RCV002010651 RCV001942649 RCV001997021 RCV002049610 RCV001893572 RCV001864598 RCV001994181 RCV002016997 RCV001894150 RCV001949497 RCV001956444 RCV001912315 RCV001904678 RCV001947046 RCV001901512 RCV001959029 RCV001935821 RCV001958736 RCV001935366 RCV001863650 RCV001913457 RCV002227302 RCV002244289 RCV002250059 RCV002250061 RCV002273270 RCV003509709 RCV002280320 RCV003619761 RCV002283618 RCV002283978 RCV002285212 RCV002285218 RCV002285219 RCV002285220 RCV002285221 RCV002285222 RCV002285223 RCV002285224 RCV002291489 RCV000154602 RCV003097407 RCV002471952 RCV002471967 RCV003064601 RCV003064602 RCV003050552 RCV003041382 RCV003041383 RCV002601847 RCV002833054 RCV002820560 RCV002797000 RCV002828571 RCV002856587 RCV002851766 RCV002851779 RCV002852850 RCV002881093 RCV002894532 RCV004760426 RCV001384081 RCV001853159 RCV001038520 RCV000008061 RCV001853158 RCV000645012 RCV000817591 RCV001853157 RCV002284195 RCV001210761 RCV002937864 RCV002957348 RCV002975954 RCV002979699 RCV003003027 RCV003006307 RCV003030360 RCV000008054 RCV000008055 RCV000008056 RCV000008057 RCV000008058 RCV000008059 RCV000008060 RCV000555146 RCV000008064 RCV002519743 RCV000008066 RCV000468229 RCV002516193 RCV000820770 RCV003108238 RCV003153042 RCV000233877 RCV003223400 RCV000256399 RCV005031846 RCV003234986 RCV003236633 RCV000342012 RCV000370816 RCV005860057 RCV001204274 RCV002518076 RCV003314444 RCV003315128 RCV003315191 RCV001218520 RCV003493997 RCV003493998 RCV003493999 RCV003494000 RCV003319945 RCV003327324 RCV003333389 RCV003333676 RCV003337743 RCV003509849 RCV003509852 RCV003510922 RCV003510842 RCV003509211 RCV003509032 RCV003509034 RCV003509405 RCV003510208 RCV003510425 RCV003620659 RCV003620913 RCV003620967 RCV003620845 RCV003620907 RCV003620854 RCV003621078 RCV003621169 RCV003621289 RCV003621390 RCV003621269 RCV003621443 RCV003619411 RCV003838020 RCV003871837 RCV003885404 RCV003985953 RCV003986036 RCV003988989 RCV003989057 RCV003990626 RCV004006216 RCV004555511 RCV004593656 RCV004594976 RCV000461222 RCV000468292 RCV000470074 RCV000459799 RCV000461685 RCV000476270 RCV000469116 RCV000553685 RCV000558408 RCV000594760 RCV005091558 RCV002289890 RCV000625818 RCV000645020 RCV000645018 RCV000645011 RCV000645010 RCV000645013 RCV000685179 RCV000708596 RCV000722169 RCV003509594 RCV003319416 RCV003319417 RCV001855796 RCV002499382 RCV000757958 RCV000799333 RCV000811911 RCV000807681 RCV000823654 RCV000803679 RCV000823114 RCV000792631 RCV000819337 RCV000793200 RCV000990290 RCV001030431 RCV001066608 RCV001052880 RCV001045941 RCV001035535 RCV001061199 RCV001057664 RCV001048193 RCV001054177 RCV001049155 RCV002554668 RCV005861200 RCV001216801 RCV001219403 RCV001223061 RCV001212752 RCV001211558 RCV001217723 RCV001230121 RCV001232034 RCV001245553 RCV001243494 RCV001240172 RCV001238101 RCV001248635 RCV001281184 RCV001251042 RCV001281362 RCV001289549
Arteriohepatic dysplasia	Likely pathogenic; Pathogenic	rs1294950721, rs2122644925, rs2514538137, rs2514537903, rs727504412, rs2514526436, rs2514531153, rs863223650, rs121918351, rs121918352, rs886039539, rs2514538986, rs2514537675, rs1555827650, rs1568791694	RCV005414339 RCV005002170 RCV005002175 RCV005002176 RCV000844632 RCV005002182 RCV005002180 RCV005414324 RCV005002140 RCV005002141 RCV005414325 RCV005002184 RCV005002185 RCV000627057 RCV000761246
Atypical coarctation of aorta	Pathogenic; Likely pathogenic	rs1555827789, rs863223648, rs1600181733, rs1600184363	RCV000845198 RCV000845195 RCV000845197 RCV000845196
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2514507762, rs2514517294, rs746259131, rs780475862, rs1555828721, rs1555829065, rs1600185499, rs2067324506	RCV002322653 RCV002391897 RCV002395082 RCV002423726 RCV002383649 RCV004024839 RCV002397567 RCV002402725
Charcot-Marie-Tooth disease, axonal, Type 2HH	Pathogenic; Likely pathogenic	rs2122606362, rs2122604480, rs1294950721, rs2122607723, rs863223655, rs121918350, rs121918351, rs886039393, rs876660980, rs886041782, rs2514508367, rs1568796236, rs1568794128	RCV001731244 RCV001731245 RCV005038328 RCV006442476 RCV005025314 RCV005031418 RCV002476943 RCV005031419 RCV005025367 RCV005031846 RCV005036859 RCV002499382 RCV005029621
Deafness	Pathogenic	rs2514520753	RCV004798960
Deafness, congenital heart defects, and posterior embryotoxon	Likely pathogenic; Pathogenic	rs1294950721, rs863223655, rs121918350, rs121918351, rs886039393, rs121918353, rs876660980, rs886041782, rs2514508367, rs1568796236, rs1568794128	RCV005038328 RCV005025314 RCV005031418 RCV002476943 RCV005031419 RCV000008065 RCV005025367 RCV005031846 RCV005036859 RCV002499382 RCV005029621
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic	rs2122603096	RCV002251309
Heart, malformation of	Pathogenic	rs727504412	RCV000844632
Hepatic Ductular Hypoplasia	Likely pathogenic	rs756911979, rs2122595849	RCV001849644 RCV001849645
Hepatoblastoma	Likely pathogenic	rs2514506387	RCV003991554
JAG1-related disorder	Pathogenic; Likely pathogenic	rs727504412, rs2514516649, rs863223655, rs863223650, rs863223648, rs121918350, rs876660980, rs1555828546, rs886043606, rs2514526624, rs2514538027, rs2514521775, rs2514507811, rs2514509349, rs2514515560 View all (11 more)	RCV004551336 RCV003336779 RCV004553068 RCV004553066 RCV004553065 RCV004739294 RCV004547565 RCV004741463 RCV004739659 RCV003335979 RCV004550772 RCV004552591 RCV004554175 RCV004554180 RCV004548632 RCV004550741 RCV004552467 RCV004554155 RCV004554113 RCV004554248 RCV004723359 RCV004548960 RCV004548749 RCV004548918 RCV004554450 RCV004548074
Nonpapillary renal cell carcinoma	Pathogenic	rs2067293664	RCV005911079
Ovarian serous cystadenocarcinoma	Pathogenic	rs2067293664, rs2067434947	RCV005911080 RCV005909128
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2067513100	RCV001073553
Tetralogy of Fallot	Pathogenic; Likely pathogenic	rs2067268275, rs1294950721, rs727504412, rs863223655, rs121918350, rs121918351, rs886039393, rs28939668, rs876660981, rs876660980, rs886041782, rs886044220, rs2514508367, rs1568796236, rs1568794128, rs2067506937 View all (1 more)	RCV001335178 RCV005038328 RCV001197474 RCV005025314 RCV005031418 RCV002476943 RCV005031419 RCV000008063 RCV003998613 RCV005025367 RCV005031846 RCV004021282 RCV005036859 RCV002499382 RCV005029621 RCV001196540

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aortic dilatation	Conflicting classifications of pathogenicity	rs1268561604	RCV001200019
Cervical cancer	Conflicting classifications of pathogenicity	rs764798214	RCV005868477
Clear cell carcinoma of kidney	Benign; Likely benign	rs567027490	RCV005896231
Congenital anomaly of kidney and urinary tract	Uncertain significance	rs2067505956	RCV001328305
Conotruncal heart malformations	Conflicting classifications of pathogenicity	rs143966918	RCV005621953
Familial cancer of breast	Conflicting classifications of pathogenicity	rs142855305	RCV005899632
Gastric cancer	Benign	rs80338240	RCV005891196
Isolated Nonsyndromic Congenital Heart Disease	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs1051419, rs527236046, rs1131695, rs145895196, rs2229895, rs199505265, rs139574260, rs2273060, rs1801139, rs80338240, rs79338570, rs147793030, rs149897344, rs372121353, rs150811951 View all (128 more)	RCV000270345 RCV001138646 RCV000293317 RCV001138547 RCV000390016 RCV000351515 RCV000382364 RCV000362940 RCV000301221 RCV000323192 RCV000331512 RCV001138548 RCV000294964 RCV000289604 RCV000276199 RCV001141013 RCV000369805 RCV000291006 RCV000261669 RCV000366816 RCV000352586 RCV000348978 RCV000281669 RCV000357300 RCV000262497 RCV000376106 RCV000400703 RCV000364285 RCV000260024 RCV000312591 RCV000390939 RCV000366943 RCV000389090 RCV000319745 RCV000408215 RCV000370316 RCV000401384 RCV000393751 RCV000393742 RCV000301259 RCV000297876 RCV000361979 RCV000272309 RCV000392967 RCV000389399 RCV000318701 RCV000332154 RCV000340587 RCV000364934 RCV000275692 RCV000323447 RCV000289201 RCV000321440 RCV000382041 RCV000310081 RCV000389258 RCV000336734 RCV000368745 RCV000260977 RCV000407823 RCV000291349 RCV000297365 RCV000324148 RCV000387222 RCV000279930 RCV000401970 RCV000318133 RCV000283467 RCV000299839 RCV000339764 RCV000408407 RCV000321807 RCV000271780 RCV000282610 RCV000303889 RCV000367635 RCV000317633 RCV000287081 RCV000343993 RCV000352200 RCV000265548 RCV000327632 RCV000403009 RCV001141105 RCV001138645 RCV001138226 RCV001142858 RCV000287430 RCV000309375 RCV001141107 RCV000343444 RCV000286199 RCV000359120 RCV000332531 RCV000393076 RCV000335827 RCV000383370 RCV001141110 RCV001142856 RCV001138323 RCV001138114 RCV001142961 RCV001138544 RCV001138116 RCV001138224 RCV001138115 RCV001141109 RCV001138743 RCV001142760 RCV001142761 RCV001142762 RCV001138022 RCV001138023 RCV001138439 RCV001138440 RCV001141012 RCV001142857 RCV001138111 RCV001138112 RCV001138113 RCV001138543 RCV001138545 RCV001138546 RCV001141106 RCV001141108 RCV001141111 RCV001138225 RCV001138227 RCV001138647 RCV001138648 RCV001141224 RCV001141225 RCV001143067 RCV001138322 RCV001138324 RCV001138744 RCV001138745 RCV001141324 RCV001141325 RCV001141326 RCV001138110 RCV001138223 RCV001141226 RCV001143066
Pes planus	Conflicting classifications of pathogenicity	rs1268561604	RCV001200019
Sarcoma	Likely benign	rs139795187	RCV005919311
Scoliosis	Conflicting classifications of pathogenicity	rs1268561604	RCV001200019
See cases	Conflicting classifications of pathogenicity	rs747142039	RCV004584452
Uterine corpus endometrial carcinoma	Likely benign	rs116234949	RCV005920809

Show/Hide Text Mining Associations (175)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Stimulate	21305538
Adenocarcinoma	Associate	23423517, 26926447, 34818353
Adenocarcinoma of Lung	Associate	27196489
Adenoma	Associate	29286145
Adrenocortical Carcinoma	Associate	22427350
Aicardi Goutieres syndrome	Associate	10827106, 12624136, 35551623
Aicardi Syndrome	Associate	22427350
Aicardi Syndrome	Stimulate	22427350
Airway Obstruction	Associate	37511516
Alagille Syndrome	Associate	10978356, 12649809, 14684686, 15190647, 16773578, 17241866, 19058200, 19948535, 21671386, 22105858, 22336710, 22487239, 22488849, 24748328, 24825276 View all (36 more)
alpha Thalassemia	Associate	35119136
Alzheimer Disease	Associate	36214709
Anencephaly	Associate	24634123
Aneurysm	Associate	35819173
Aortic Aneurysm	Associate	35819173
Aphasia Primary Progressive	Associate	20805994
Aphasia Wernicke	Associate	37511516
Arthritis Rheumatoid	Associate	37796367
Ascending aortic aneurysm hypertelorism bifid uvula cleft palate and arterial tortuosity	Associate	19058200
Asthma	Associate	35140898
Atypical Squamous Cells of the Cervix	Associate	29921897
Autistic Disorder	Associate	19058200
Axenfeld Rieger syndrome	Associate	37895297
Barrett Esophagus	Inhibit	25558829
Barrett Esophagus	Associate	26926447, 34818353
Biliary Atresia	Associate	28416017
Biliary Fistula	Associate	12000721
Bone Diseases	Associate	22174012
Breast Neoplasms	Associate	17507991, 17984306, 18167335, 18563556, 20509143, 23934482, 25645291, 25881039, 27651315, 28422875, 30587589, 32046779, 36539520
Breast Neoplasms	Stimulate	20030805, 21224848
Buschke Lowenstein Tumor	Associate	31781973
CADASIL	Associate	14714274, 36142458
Carcinogenesis	Associate	12496248, 35263601
Carcinoma Adenoid Cystic	Associate	24238845, 36450256
Carcinoma Hepatocellular	Associate	12097419, 22488108, 23651211, 27832779, 30536310, 30660174
Carcinoma Hepatocellular	Stimulate	28258914
Carcinoma Non Small Cell Lung	Associate	23369236
Carcinoma Pancreatic Ductal	Stimulate	21922151
Carcinoma Pancreatic Ductal	Associate	35673567
Carcinoma Renal Cell	Associate	22506064, 26045747, 32432737, 37735297
Cardiomyopathies	Associate	37833902
Cartilage Diseases	Associate	21156405
Cataract	Associate	35758265
Cerebral Infarction	Associate	36426373
Chemical and Drug Induced Liver Injury	Associate	26339425
Cholestasis	Associate	17241866, 20683201, 26339425, 37099537
Cholestasis Intrahepatic	Associate	17241866
Chondrosarcoma	Associate	21156405
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	24708907
Chromosome 20 deletion 20p	Associate	28600057
Chronic Kidney Disease Mineral and Bone Disorder	Associate	25400810
Cleft Lip	Associate	35385219
Colorectal Neoplasms	Associate	12097419, 12193752, 22219033, 26650241, 26744411, 27589478, 27983919, 29286145, 29703930, 32751332
Colorectal Neoplasms	Stimulate	24265293
Cone Rod Dystrophies	Associate	29555955
Congenital Abnormalities	Associate	24634123
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	28878125
Congenital Hypothyroidism	Associate	38245625
Craniocerebral Trauma	Associate	17922128
Crohn Disease	Associate	26802079
Cysts	Associate	37511516
Deafness Congenital Heart Defects and Posterior Embryotoxon	Associate	37511516
Demyelinating Diseases	Associate	29596844
Developmental Disabilities	Associate	19058200
Diabetes Mellitus	Inhibit	28045060
Diabetes Mellitus Type 2	Associate	34219868
Diabetic Nephropathies	Associate	34219868
Disease	Associate	19058200, 29483232
Dissection Thoracic Aorta	Associate	23300792
Drug Hypersensitivity	Associate	28416017
Drug Related Side Effects and Adverse Reactions	Associate	36235115
Dry Eye Syndromes	Associate	19011014
Endocrine System Diseases	Associate	36214709
Esophageal Squamous Cell Carcinoma	Associate	32252688
Eye Abnormalities	Associate	30543192
Fibrosarcoma	Associate	20428807
Fibrosis	Associate	12000721, 37511516
Fractures Bone	Associate	20096396, 36292776
Gaucher like disease	Associate	30543192
Glioblastoma	Associate	23787764, 25514871, 26662803, 33249476
Glioblastoma	Stimulate	25557173
Glioma	Associate	25192910, 25514871
Glucocorticoid Receptor Deficiency	Stimulate	20555348
Heart Diseases	Associate	12649809
HEM dysplasia	Associate	27941324
Hemangioma	Stimulate	19349369, 20069356
Hemangioma	Associate	27941324
Hemangioma capillary infantile	Associate	37565874
Hydronephrosis	Associate	37511516
Hypertension	Associate	32854392
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	22105858
Hypoxia	Stimulate	22363487, 25166211
Hypoxia	Associate	31686456
Hypoxia Brain	Stimulate	33249476
Inflammation	Stimulate	23934482
Inflammation	Associate	34219868
Intestinal Diseases	Associate	34565297
Jaundice	Associate	26339425, 35562782
Keloid	Stimulate	20555348
Kidney Diseases	Associate	20531454, 24798563, 26076142
Leigh Disease	Associate	20096396
Leprosy	Associate	27532668
Leukemia B Cell	Associate	23637910
Leukemia Lymphocytic Chronic B Cell	Associate	18796623, 30478302
Leukemia Lymphoma Adult T Cell	Associate	30231940
Leukemia Myeloid	Associate	15694671
Leukemia Myeloid Acute	Associate	15694671, 15850833, 26802051
Liver Cirrhosis	Associate	34750395
Liver Diseases	Associate	14684686, 37549562
Lung Neoplasms	Associate	23369236
Lymphatic Metastasis	Associate	27589478
Lymphatic Metastasis	Stimulate	36539520
Lymphoma Non Hodgkin	Associate	38022677
Lymphoma T Cell Cutaneous	Associate	26302069
Malocclusion Angle Class III	Associate	34039391
Mammary Neoplasms Animal	Associate	35263601
Medulloblastoma	Associate	24708907
Melanoma	Associate	21673604
Mullerian aplasia	Associate	24608967
Multiple Myeloma	Associate	14726396, 27463014, 37834003
Multiple Sclerosis	Associate	20805994
Multiple Sclerosis Relapsing Remitting	Associate	20805994
Multiple System Atrophy	Associate	39244638
Muscular Dystrophy Duchenne	Associate	29194448
Mycosis Fungoides	Associate	31930426
Myelodysplastic Syndromes	Associate	26802051
Neoplasm Metastasis	Associate	26921446, 27651315
Neoplasm Metastasis	Stimulate	33781318, 36539520
Neoplasms	Associate	11964309, 12097419, 12193752, 12496248, 15919944, 16327489, 17507991, 17922128, 18519667, 20030805, 21156405, 21224848, 21922151, 22219033, 22427350 View all (16 more)
Neoplasms	Stimulate	22506064
Neural Tube Defects	Associate	31835735
Odontogenic Tumor Squamous	Associate	20554499
Osteoporosis	Associate	29145611
Osteoporotic Fractures	Associate	20096396
Osteosarcoma	Associate	33781318
Ovarian Neoplasms	Associate	18632624, 20624166, 37796700
Pancreatic Neoplasms	Associate	16327489, 30468464, 37338014
Pancreatic Neoplasms	Stimulate	21224848, 25557173
Papilloma Choroid Plexus	Associate	29703930
Personality Disorders	Associate	32032581
Pre Eclampsia	Associate	17616861
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23637910
Prostatic Intraepithelial Neoplasia	Associate	26341090
Prostatic Neoplasms	Associate	22936788, 26921446, 32300177, 35710817
Prostatic Neoplasms	Stimulate	24574517
Prostatic Neoplasms Castration Resistant	Associate	32133801
Proteinuria	Associate	20531454
Pseudohypoparathyroidism	Associate	2829196
Pseudohypoparathyroidism Type 2	Associate	2829196
Pulmonary Disease Chronic Obstructive	Associate	34354706
Pulmonary Valve Stenosis	Associate	12649809, 37549562
Retinal Dysplasia	Associate	26926447
Retinoblastoma	Associate	30896794
Rhabdomyosarcoma	Associate	24797362
Sarcoma Kaposi	Associate	19816565, 27760204
Scoliosis	Associate	19058200
Sleep Apnea Obstructive	Associate	31686456
Squamous Cell Carcinoma of Head and Neck	Associate	24351288
Squamous Cell Carcinoma of Head and Neck	Stimulate	27349552
Stomach Neoplasms	Associate	26612211, 27120728, 29781036, 30380781, 32705238, 35465266
Syndrome	Associate	29483232
Telangiectasia Hereditary Hemorrhagic	Associate	21764776
Tetralogy of Fallot	Associate	12649809, 19597493, 19948535, 28878125, 29536580
Tongue Neoplasms	Associate	34952204
Triple Negative Breast Neoplasms	Associate	27651315, 32032581, 35263601
Tuberculosis	Associate	22239941
Urinary Bladder Neoplasms	Associate	24861552
Urinary Bladder Neoplasms	Stimulate	37988196
Uterine Cervical Neoplasms	Stimulate	15919944
Uterine Cervical Neoplasms	Associate	29921897
Vascular Ring	Associate	27208800
Ventricular Outflow Obstruction Left	Associate	27760138
Ventricular Outflow Obstruction Right	Associate	35385219
Virus Diseases	Associate	19816565
Wilms Tumor	Associate	30530967, 30671724, 32495866

JAG1 (jagged canonical Notch ligand 1)