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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25836
Gene name Gene Name - the full gene name approved by the HGNC.	NIPBL cohesin loading factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NIPBL
Synonyms (NCBI Gene) Gene synonyms aliases	CDLS, CDLS1, IDN3, IDN3-B, Scc2
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developm

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SNP ID	Visualize variation	Clinical significance	Consequence
rs62654864	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs77632238	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs80358356	G>A	Likely-pathogenic	Intron variant
rs80358360	C>G,T	Likely-benign, pathogenic	Synonymous variant, genic upstream transcript variant, coding sequence variant, stop gained
rs80358361	ATCTATA>-	Pathogenic	Frameshift variant, coding sequence variant
rs80358362	C>T	Pathogenic	Coding sequence variant, stop gained
rs80358363	G>T	Pathogenic	Coding sequence variant, stop gained
rs80358364	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs80358366	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs80358367	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs80358368	C>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs80358369	T>A	Pathogenic	Coding sequence variant, stop gained
rs80358370	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs80358371	->T	Pathogenic	Coding sequence variant, stop gained, downstream transcript variant, genic downstream transcript variant
rs80358372	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs80358373	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs80358374	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs80358375	G>T	Pathogenic	Splice acceptor variant, intron variant
rs80358376	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs80358378	G>A	Likely-pathogenic	Intron variant
rs80358380	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80358382	GAGA>-,GA	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs80358384	A>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs80358386	GAACTACAGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs121918264	T>A	Pathogenic	Initiator codon variant, genic upstream transcript variant, missense variant
rs121918265	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121918266	ATA>-	Pathogenic	Coding sequence variant, inframe deletion
rs121918267	C>T	Pathogenic	Stop gained, coding sequence variant
rs121918268	C>G	Pathogenic	Coding sequence variant, missense variant
rs121918269	C>T	Pathogenic	Stop gained, coding sequence variant
rs147054690	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs149892167	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs150678035	G>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, upstream transcript variant
rs199570957	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs201043922	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs371347218	T>C	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, synonymous variant
rs398124465	AG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs398124466	C>A,T	Pathogenic, likely-benign	Intron variant, coding sequence variant, synonymous variant, stop gained
rs398124467	->G	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs398124470	T>C,G	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs398124471	C>T	Pathogenic	Coding sequence variant, stop gained
rs398124473	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs557147929	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs587783877	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs587783878	TATG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs587783879	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs587783880	TT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs587783882	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs587783883	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs587783884	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs587783886	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs587783887	A>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs587783888	GAAA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
rs587783889	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, intron variant
rs587783891	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783892	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783893	TAGCCTCAACCA>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, inframe deletion
rs587783894	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783895	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs587783896	C>G	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783897	CC>-,C	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783899	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783901	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783902	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783905	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, intron variant
rs587783906	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783907	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783909	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783910	AA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783911	T>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783912	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783914	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783917	CCTAATGT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs587783918	A>G	Likely-pathogenic	Splice acceptor variant
rs587783919	A>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783921	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs587783922	A>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs587783923	CT>-	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783925	GAAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783926	C>G,T	Pathogenic	Intron variant
rs587783927	G>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs587783928	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs587783930	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783931	CTTGGAGAAGAATAT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs587783932	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs587783933	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs587783934	CTGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783936	G>T	Pathogenic	Coding sequence variant, stop gained
rs587783937	G>T	Pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs587783938	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs587783939	A>T	Pathogenic	Splice acceptor variant
rs587783940	AAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783941	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783942	G>C	Pathogenic	Splice acceptor variant
rs587783944	AAATGTCAGTGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783945	G>A	Pathogenic	Splice donor variant
rs587783947	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587783948	T>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587783950	G>T	Pathogenic	Coding sequence variant, stop gained
rs587783951	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs587783952	T>G	Pathogenic	Coding sequence variant, stop gained
rs587783953	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783954	G>C	Pathogenic	Splice donor variant
rs587783955	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783957	TTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783959	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783960	CCCAGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783961	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783966	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs587783967	G>A	Pathogenic	Splice donor variant
rs587783968	A>G	Benign, pathogenic	Intron variant
rs587783969	G>C	Pathogenic	Splice acceptor variant
rs587783971	C>T	Pathogenic	Coding sequence variant, stop gained
rs587783972	C>T	Pathogenic	Coding sequence variant, stop gained
rs587783973	TCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783974	A>G	Pathogenic	Splice acceptor variant
rs587783975	C>T	Pathogenic	Coding sequence variant, stop gained
rs587783977	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs587783978	G>A	Pathogenic	Coding sequence variant, missense variant
rs587783979	G>A	Pathogenic	Splice donor variant
rs587783980	T>G	Pathogenic	Splice donor variant
rs587783982	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587783984	G>A	Pathogenic	Splice donor variant
rs587783985	G>A	Pathogenic	Splice donor variant
rs587783986	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs587783987	TTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs587783988	C>G,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, missense variant
rs587783993	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs587783994	G>C,T	Pathogenic	Splice donor variant
rs587783997	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587783998	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587784000	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs587784002	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs587784003	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs587784004	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587784005	TGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587784007	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587784008	AAA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs587784009	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs587784010	A>C	Pathogenic	Genic upstream transcript variant, intron variant
rs587784011	G>A	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs587784012	A>C,G	Pathogenic-likely-pathogenic, likely-benign	Genic upstream transcript variant, intron variant
rs587784013	C>T	Pathogenic	Coding sequence variant, stop gained
rs587784015	A>T	Pathogenic	Coding sequence variant, stop gained
rs587784016	A>C	Pathogenic	Splice acceptor variant
rs587784017	G>A	Pathogenic	Coding sequence variant, missense variant
rs587784019	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs587784020	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587784021	TA>-	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs587784022	ATA>-	Pathogenic	Inframe deletion, coding sequence variant
rs587784023	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587784024	G>A	Pathogenic	Coding sequence variant, missense variant
rs587784025	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs587784026	C>T	Pathogenic	Coding sequence variant, stop gained
rs587784027	G>A	Pathogenic	Splice donor variant
rs587784029	GG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587784030	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs587784032	T>C	Pathogenic	Splice donor variant
rs587784033	C>T	Pathogenic	Coding sequence variant, stop gained
rs587784034	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587784035	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587784036	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs587784037	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587784038	T>G	Pathogenic	Intron variant
rs587784039	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs587784040	CCG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, intron variant
rs587784042	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant
rs587784043	GA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587784047	CTCTCCATCTGAATCTGCAAAAGTA>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs587784048	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs587784049	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs587784050	C>T	Pathogenic	Coding sequence variant, stop gained, downstream transcript variant, genic downstream transcript variant
rs587784059	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs587784060	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs587784062	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs587784063	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs587784065	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs727503766	AA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs727503767	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs727503768	T>G	Pathogenic	Genic upstream transcript variant, intron variant
rs727503769	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs727503770	C>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs727503772	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs727504047	T>G	Pathogenic	Coding sequence variant, stop gained
rs730880331	->T	Pathogenic	Coding sequence variant, stop gained
rs751902505	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs794727556	T>G	Pathogenic	Splice donor variant
rs797045745	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs797045746	AA>CTCCCTT	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs797045747	A>G	Likely-pathogenic	Intron variant
rs797045748	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045749	->AG	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs797045750	->TGAA	Pathogenic	Coding sequence variant, intron variant, stop gained
rs797045751	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045752	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs797045753	->G	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs797045754	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045755	->A	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs797045756	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045757	TTT>-	Likely-pathogenic	Intron variant
rs797045758	->T	Likely-pathogenic	Splice donor variant
rs797045760	C>T	Pathogenic	Coding sequence variant, stop gained
rs797045761	->A	Pathogenic	Coding sequence variant, frameshift variant
rs797045762	CT>-	Pathogenic	Coding sequence variant, stop gained
rs797045763	->GT	Pathogenic	Genic upstream transcript variant, splice donor variant
rs797045764	->CCTGTCAACTAACATGT	Pathogenic	Coding sequence variant, frameshift variant
rs797045766	->A	Pathogenic	Coding sequence variant, frameshift variant
rs797045767	GCTTGATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045768	->CTGA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs797045769	C>T	Pathogenic	Coding sequence variant, stop gained
rs797045770	->TG	Pathogenic	Coding sequence variant, frameshift variant
rs797045771	->T	Pathogenic	Coding sequence variant, frameshift variant
rs797045772	->T	Pathogenic	Coding sequence variant, frameshift variant
rs797045773	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045775	T>C	Pathogenic	Splice donor variant
rs797045776	->T	Pathogenic	Splice donor variant
rs797045778	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs797045779	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs797045780	->T	Pathogenic	Coding sequence variant, frameshift variant
rs797045783	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, downstream transcript variant
rs797045784	->TA	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, downstream transcript variant
rs866740147	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs886039531	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs886041274	ACAGAAGAACTTA>CTT	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs886041275	->G	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs886041810	TCAGT>-	Pathogenic	Coding sequence variant, stop gained
rs886042231	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886043046	T>C	Pathogenic	Splice donor variant
rs886043629	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs886044351	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057516034	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057518050	GAAG>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1057518091	G>A	Likely-pathogenic	Intron variant
rs1057518944	CT>-	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1057524102	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524427	A>G	Likely-pathogenic	Splice acceptor variant
rs1064794606	CT>AA	Likely-pathogenic	Intron variant
rs1064794672	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794954	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1064796481	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1064796744	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307910	A>C	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, intron variant
rs1131691967	T>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs1554011042	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554011046	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554014382	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1554015145	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554015303	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1554016981	->G	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1554017175	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554017345	CAAA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554017441	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554017661	C>G	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554019663	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554019667	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554019698	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554019712	G>A	Pathogenic	Splice donor variant
rs1554020579	->G	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554020997	T>G	Pathogenic	Coding sequence variant, stop gained
rs1554022000	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554022466	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554023967	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554024009	TGTT>-	Pathogenic	Coding sequence variant, stop gained
rs1554025252	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554025675	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554025780	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554025796	G>T	Pathogenic	Coding sequence variant, missense variant
rs1554027083	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554030233	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554030285	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554031864	TGTG>-	Pathogenic	Coding sequence variant, stop gained
rs1554032085	->TAAC	Pathogenic	Coding sequence variant, frameshift variant
rs1554032266	G>A	Pathogenic	Intron variant
rs1554032789	T>A	Pathogenic	Coding sequence variant, missense variant
rs1554032826	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554032954	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554034812	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554035266	T>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs1554035311	A>G	Likely-pathogenic	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs1554035316	C>-	Pathogenic	Coding sequence variant, stop gained, downstream transcript variant, genic downstream transcript variant
rs1561083229	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1561101302	T>ACA	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1561102868	C>G	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1561119439	->T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1561145912	G>T	Pathogenic	Coding sequence variant, stop gained
rs1561164598	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1561169166	G>C	Likely-pathogenic	Splice acceptor variant
rs1561207924	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1561214997	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561222491	->G	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1561222738	A>G	Likely-pathogenic	Intron variant
rs1579557913	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1580323151	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1580372126	TC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1580373035	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1580394197	C>T	Pathogenic, likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1580396071	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1580396767	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1580425629	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580436698	C>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1580451470	C>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(118)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003175	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT003175	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT016135	hsa-miR-421	Sequencing	20371350
MIRT030681	hsa-miR-21-5p	Microarray	18591254
MIRT032211	hsa-let-7b-5p	Proteomics	18668040
MIRT052641	hsa-let-7a-5p	CLASH	23622248
MIRT047113	hsa-miR-183-5p	CLASH	23622248
MIRT046116	hsa-miR-30b-5p	CLASH	23622248
MIRT040938	hsa-miR-18a-3p	CLASH	23622248
MIRT712885	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT712884	hsa-miR-664a-3p	HITS-CLIP	19536157
MIRT712883	hsa-miR-604	HITS-CLIP	19536157
MIRT712881	hsa-miR-6762-3p	HITS-CLIP	19536157
MIRT712882	hsa-miR-4666b	HITS-CLIP	19536157
MIRT712880	hsa-miR-647	HITS-CLIP	19536157
MIRT712879	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT712878	hsa-let-7c-3p	HITS-CLIP	19536157
MIRT441499	hsa-miR-3936	PAR-CLIP	22100165
MIRT441498	hsa-miR-4738-5p	PAR-CLIP	22100165
MIRT440109	hsa-miR-369-3p	HITS-CLIP	24374217
MIRT440107	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440109	hsa-miR-369-3p	HITS-CLIP	24374217
MIRT440107	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT712885	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT712884	hsa-miR-664a-3p	HITS-CLIP	19536157
MIRT712883	hsa-miR-604	HITS-CLIP	19536157
MIRT712881	hsa-miR-6762-3p	HITS-CLIP	19536157
MIRT712882	hsa-miR-4666b	HITS-CLIP	19536157
MIRT712880	hsa-miR-647	HITS-CLIP	19536157
MIRT712879	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT712878	hsa-let-7c-3p	HITS-CLIP	19536157
MIRT441499	hsa-miR-3936	PAR-CLIP	22100165
MIRT441498	hsa-miR-4738-5p	PAR-CLIP	22100165
MIRT1185717	hsa-miR-100	CLIP-seq
MIRT1185718	hsa-miR-1283	CLIP-seq
MIRT1185719	hsa-miR-187	CLIP-seq
MIRT1185720	hsa-miR-3163	CLIP-seq
MIRT1185721	hsa-miR-410	CLIP-seq
MIRT1185722	hsa-miR-4282	CLIP-seq
MIRT1185723	hsa-miR-4307	CLIP-seq
MIRT1185724	hsa-miR-4652-3p	CLIP-seq
MIRT1185725	hsa-miR-4698	CLIP-seq
MIRT1185726	hsa-miR-4711-3p	CLIP-seq
MIRT1185727	hsa-miR-4753-3p	CLIP-seq
MIRT1185728	hsa-miR-4768-5p	CLIP-seq
MIRT1185729	hsa-miR-511	CLIP-seq
MIRT1185730	hsa-miR-99a	CLIP-seq
MIRT1185731	hsa-miR-99b	CLIP-seq
MIRT1185732	hsa-miR-1237	CLIP-seq
MIRT1185733	hsa-miR-1248	CLIP-seq
MIRT1185734	hsa-miR-1284	CLIP-seq
MIRT1185735	hsa-miR-1297	CLIP-seq
MIRT1185736	hsa-miR-1305	CLIP-seq
MIRT1185737	hsa-miR-188-3p	CLIP-seq
MIRT1185738	hsa-miR-217	CLIP-seq
MIRT1185739	hsa-miR-26a	CLIP-seq
MIRT1185740	hsa-miR-26b	CLIP-seq
MIRT1185741	hsa-miR-300	CLIP-seq
MIRT1185742	hsa-miR-3074-5p	CLIP-seq
MIRT1185743	hsa-miR-3140-3p	CLIP-seq
MIRT1185744	hsa-miR-338-5p	CLIP-seq
MIRT1185745	hsa-miR-375	CLIP-seq
MIRT1185746	hsa-miR-381	CLIP-seq
MIRT1185747	hsa-miR-409-3p	CLIP-seq
MIRT1185748	hsa-miR-4300	CLIP-seq
MIRT1185749	hsa-miR-4326	CLIP-seq
MIRT1185750	hsa-miR-4465	CLIP-seq
MIRT1185751	hsa-miR-4666-3p	CLIP-seq
MIRT1185752	hsa-miR-4709-5p	CLIP-seq
MIRT1185753	hsa-miR-4781-3p	CLIP-seq
MIRT1185754	hsa-miR-498	CLIP-seq
MIRT1185755	hsa-miR-532-3p	CLIP-seq
MIRT1185756	hsa-miR-548g	CLIP-seq
MIRT1185757	hsa-miR-568	CLIP-seq
MIRT1185758	hsa-miR-920	CLIP-seq
MIRT2053837	hsa-miR-374a	CLIP-seq
MIRT2053838	hsa-miR-374b	CLIP-seq
MIRT2053839	hsa-miR-4727-5p	CLIP-seq
MIRT2283003	hsa-miR-1202	CLIP-seq
MIRT2283004	hsa-miR-1246	CLIP-seq
MIRT2283005	hsa-miR-129-5p	CLIP-seq
MIRT1185736	hsa-miR-1305	CLIP-seq
MIRT2283006	hsa-miR-151-3p	CLIP-seq
MIRT1185743	hsa-miR-3140-3p	CLIP-seq
MIRT2283007	hsa-miR-3545-3p	CLIP-seq
MIRT2283008	hsa-miR-3607-3p	CLIP-seq
MIRT2283009	hsa-miR-3646	CLIP-seq
MIRT2283010	hsa-miR-3662	CLIP-seq
MIRT2053837	hsa-miR-374a	CLIP-seq
MIRT2053838	hsa-miR-374b	CLIP-seq
MIRT2283011	hsa-miR-374c	CLIP-seq
MIRT2283012	hsa-miR-3972	CLIP-seq
MIRT1185747	hsa-miR-409-3p	CLIP-seq
MIRT1185721	hsa-miR-410	CLIP-seq
MIRT2283013	hsa-miR-4251	CLIP-seq
MIRT2283014	hsa-miR-4463	CLIP-seq
MIRT2283015	hsa-miR-4499	CLIP-seq
MIRT1185751	hsa-miR-4666-3p	CLIP-seq
MIRT2283016	hsa-miR-4694-3p	CLIP-seq
MIRT1185752	hsa-miR-4709-5p	CLIP-seq
MIRT2053839	hsa-miR-4727-5p	CLIP-seq
MIRT2283017	hsa-miR-4776-3p	CLIP-seq
MIRT1185753	hsa-miR-4781-3p	CLIP-seq
MIRT2283018	hsa-miR-522	CLIP-seq
MIRT2283019	hsa-miR-544	CLIP-seq
MIRT2283020	hsa-miR-548a-3p	CLIP-seq
MIRT2283021	hsa-miR-548c-3p	CLIP-seq
MIRT2283022	hsa-miR-548e	CLIP-seq
MIRT2283023	hsa-miR-548f	CLIP-seq
MIRT2283024	hsa-miR-548u	CLIP-seq
MIRT2283025	hsa-miR-580	CLIP-seq
MIRT2283026	hsa-miR-618	CLIP-seq
MIRT2283027	hsa-miR-633	CLIP-seq
MIRT2283028	hsa-miR-655	CLIP-seq
MIRT1185736	hsa-miR-1305	CLIP-seq
MIRT1185752	hsa-miR-4709-5p	CLIP-seq
MIRT1185736	hsa-miR-1305	CLIP-seq
MIRT1185752	hsa-miR-4709-5p	CLIP-seq

Show/Hide all(75)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18854353
GO:0000785	Component	Chromatin	IEA
GO:0001656	Process	Metanephros development	NAS	15146185
GO:0003007	Process	Heart morphogenesis	IBA
GO:0003007	Process	Heart morphogenesis	IMP	8291537
GO:0003151	Process	Outflow tract morphogenesis	IMP	19242925
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	18854353
GO:0005515	Function	Protein binding	IPI	16682347, 16802858, 17577209, 21934712, 22628566, 26496610
GO:0005634	Component	Nucleus	IDA	16802858
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006338	Process	Chromatin remodeling	IDA	18854353
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006974	Process	DNA damage response	IMP	17468178
GO:0007064	Process	Mitotic sister chromatid cohesion	IDA	22628566
GO:0007064	Process	Mitotic sister chromatid cohesion	IMP	16100726
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IMP	8291537
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007605	Process	Sensory perception of sound	IMP	15146186
GO:0008104	Process	Intracellular protein localization	IMP	17468178
GO:0010468	Process	Regulation of gene expression	IEA
GO:0032039	Component	Integrator complex	IEA
GO:0032039	Component	Integrator complex	ISS
GO:0032116	Component	SMC loading complex	IDA	16682347
GO:0034087	Process	Establishment of mitotic sister chromatid cohesion	IBA
GO:0034088	Process	Maintenance of mitotic sister chromatid cohesion	IMP	16682347
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IMP	8291537, 19242925
GO:0035136	Process	Forelimb morphogenesis	IMP	15146186
GO:0035261	Process	External genitalia morphogenesis	IMP	15146186, 19242925
GO:0036033	Function	Mediator complex binding	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042471	Process	Ear morphogenesis	IMP	8291537
GO:0042634	Process	Regulation of hair cycle	IMP	15146186
GO:0042826	Function	Histone deacetylase binding	IPI	18854353
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045995	Process	Regulation of embryonic development	IMP	19242925
GO:0048557	Process	Embryonic digestive tract morphogenesis	IMP	8291537, 19242925
GO:0048562	Process	Embryonic organ morphogenesis	IEA
GO:0048565	Process	Digestive tract development	IBA
GO:0048589	Process	Developmental growth	IMP	15146186
GO:0048592	Process	Eye morphogenesis	IMP	8291537
GO:0048638	Process	Regulation of developmental growth	IEA
GO:0048638	Process	Regulation of developmental growth	IMP	19242925
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048703	Process	Embryonic viscerocranium morphogenesis	IBA
GO:0048703	Process	Embryonic viscerocranium morphogenesis	IEA
GO:0050890	Process	Cognition	IMP	15146186
GO:0060325	Process	Face morphogenesis	IMP	15146186, 19242925
GO:0061010	Process	Gallbladder development	IMP	19242925
GO:0061038	Process	Uterus morphogenesis	IMP	19242925
GO:0061775	Function	Cohesin loader activity	IEA
GO:0061775	Function	Cohesin loader activity	IMP	22628566
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070087	Function	Chromo shadow domain binding	IPI	15882967
GO:0071169	Process	Establishment of protein localization to chromatin	IBA
GO:0071481	Process	Cellular response to X-ray	IMP	17468178
GO:0090694	Component	Scc2-Scc4 cohesin loading complex	IBA
GO:0090694	Component	Scc2-Scc4 cohesin loading complex	IDA	22628566
GO:0140588	Process	Chromatin looping	IEA
GO:1990414	Process	Replication-born double-strand break repair via sister chromatid exchange	IBA
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	ISS
GO:2001224	Process	Positive regulation of neuron migration	IEA
GO:2001224	Process	Positive regulation of neuron migration	ISS

MIM	HGNC	e!Ensembl
608667	28862	ENSG00000164190

Protein

UniProt ID

Q6KC79

Protein name

Nipped-B-like protein (Delangin) (SCC2 homolog)

Protein function

Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubM

PDB

6WG3 , 6WGE , 7W1M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12765	Cohesin_HEAT	1794 → 1835	HEAT repeat associated with sister chromatid cohesion	Family
PF12830	Nipped-B_C	2275 → 2456	Sister chromatid cohesion C-terminus	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in bra

Sequence

MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDN
LVSQLVHSLNQVSTDHIELKDNLGSDDPEGDIPVLLQAVLARSPNVFREKSMQNRYVQSG
MMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP
QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPR
HGSSEDYLHMVHRLSSDDGDSSTMRNAASFPLRSPQPVCSPAGSEGTPKGSRPPLILQSQ
SLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL
RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCL
SQQEQTAFLPANQVPVLQQNTSVAAKQPQTSVVQNQQQISQQGPIYDEVELDALAEIERI
ERESAIERERFSKEVQDKDKPLKKRKQDSYPQEAGGATGGNRPASQETGSTGNGSRPALM
VSIDLHQAGRVDSQASITQDSDSIKKPEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETP
KKKSDPELSKSEMKQSESRLAESKPNENRLVETKSSENKLETKVETQTEELKQNESRTTE
CKQNESTIVEPKQNENRLSDTKPNDNKQNNGRSETTKSRPETPKQKGESRPETPKQKSDG
HPETPKQKGDGRPETPKQKGESRPETPKQKNEGRPETPKHRHDNRRDSGKPSTEKKPEVS
KHKQDTKSDSPRLKSERAEALKQRPDGRSVSESLRRDHDNKQKSDDRGESERHRGDQSRV
RRPETLRSSSRNEHGIKSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDS
NKSRSDKLGFKSPTSKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRSGALKNFVIPK
IKRDKDGNVTQETKKMEMKGEPKDKVEKIGLVEDLNKGAKPVVVLQKLSLDDVQKLIKDR
EDKSRSSLKPIKNKPSKSNKGSIDQSVLKELPPELLAEIESTMPLCERVKMNKRKRSTVN
EKPKYAEISSDEDNDSDEAFESSRKRHKKDDDKAWEYEERDRRSSGDHRRSGHSHEGRRS
SGGGRYRNRSPSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTPEEMMDSSTFK
RFTASIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKAMGIMDKLSTD
KTVKVLNILEKNIQDGSKLSTLLNHNNDTEEEERLWRDLIMERVTKSADACLTTINIMTS
PNMPKAVYIEDVIERVIQYTKFHLQNTLYPQYDPVYRLDPHGGGLLSSKAKRAKCSTHKQ
RVIVMLYNKVCDIVSSLSELLEIQLLTDTTILQVSSMGITPFFVENVSELQLCAIKLVTA
VFSRYEKHRQLILEEIFTSLARLPTSKRSLRNFRLNSSDMDGEPMYIQMVTALVLQLIQC
VVHLPSSEKDSNAEEDSNKKIDQDVVITNSYETAMRTAQNFLSIFLKKCGSKQGEEDYRP
LFENFVQDLLSTVNKPEWPAAELLLSLLGRLLVHQFSNKSTEMALRVASLDYLGTVAARL
RKDAVTSKMDQGSIERILKQVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQW
FRDTTLETEKAMKSQKDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFST
LKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEVV
AVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDT
GISVRKRVIKILRDICIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPH
NDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYKPVKKACTQLVDNLVE
HILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQND
FMVICNVAKILELVVPLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVT
QNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGALCRHFDFDLED
FKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNIL
SDKNSSVNLKIQVLKNLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQ
LYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIAMGTDPEPAMRNKADQ
QLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIR
GNRQHRRAFLISLLNLFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVS
GSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRKRVDSDSDSDSEDDIN
SVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAI
NRKTGVHFHPKQTLDFLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVS
ASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAAQ
MNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLV
PWVDTIKESDIIYKKIALTSANKLTNKVVQTLRSLYAAKDGTSS

Sequence length

2804

Interactions

View interactions

	KEGG		Reactome
	Cell cycle		Cohesin Loading onto Chromatin

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cornelia De Lange Syndrome	cornelia de lange syndrome 1, De Lange syndrome	rs587784048, rs587784030, rs1580436698, rs80358367, rs62654864, rs1554032789, rs587783918, rs797045748, rs797045762, rs587783947, rs797045776, rs587783883, rs587784047, rs1748964402, rs80358361 View all (263 more)	N/A

Show/Hide Unknown Diseases (3)

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.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adamantinoma	Associate	32511891
Agenesis of Corpus Callosum	Associate	32511891
Anophthalmos with limb anomalies	Associate	32193685
Apraxias	Associate	27120335
Arrest of spermatogenesis	Associate	32614269
Atrioventricular Septal Defect	Associate	25996639
Autistic Disorder	Associate	16236812
Blister	Associate	36093091
Bohring syndrome	Associate	25125236
Breast Neoplasms	Associate	28987049
Carcinogenesis	Associate	25963978
Carcinoma Non Small Cell Lung	Associate	25963978
Carcinoma Non Small Cell Lung	Inhibit	33660799
Cardiovascular Abnormalities	Associate	22676896
Cholangiocarcinoma	Associate	33999553
Cockayne Syndrome	Associate	31980658
De Lange Syndrome	Associate	15318302, 16100726, 16236812, 16865217, 17273969, 18996922, 19052029, 19701948, 20358602, 20448023, 20583156, 21165303, 21934712, 22241092, 22353942 View all (54 more)
Developmental Defects of Enamel	Associate	24550742
Developmental Disabilities	Associate	35441233
Ectromelia	Associate	17273969
Epileptic Encephalopathy Early Infantile 3	Associate	24550742
Erythema Infectiosum	Associate	35627125
Esophageal Squamous Cell Carcinoma	Associate	33034274
Familial Exudative Vitreoretinopathies	Associate	40011896
Gastrointestinal Neoplasms	Associate	31648989
Glaucoma Open Angle	Associate	34348663
Growth Disorders	Associate	22676896
Head and Neck Neoplasms	Associate	22676896
Heart Defects Congenital	Associate	22965847
Heart Diseases	Associate	29348408, 32037394
Hirsutism	Associate	22676896
Immunologic Deficiency Syndromes	Associate	24550742
Infertility Male	Associate	32614269
KBG syndrome	Associate	34617417
Liver Neoplasms	Associate	33999553
Lower Extremity Deformities Congenital	Associate	32511891
Lymphatic Metastasis	Stimulate	25963978
Neoplasms	Associate	25963978, 33660799
Plagiocephaly and X linked mental retardation	Associate	22676896
Psychomotor Disorders	Associate	22676896
Roberts Syndrome	Associate	17273969
Rubinstein Taybi Syndrome	Associate	30770747
Tourette Syndrome	Associate	28472652
Turner Syndrome	Associate	22676896
Urinary Tract Infections	Associate	36093091
Vaginitis	Associate	36093091
Vesico Ureteral Reflux	Associate	36093091
Wilms Tumor	Associate	27291393

NIPBL (NIPBL cohesin loading factor)