NIPBL (NIPBL cohesin loading factor)

Gene

• Entrez ID: 25836
• Gene name: NIPBL cohesin loading factor
• Gene symbol: NIPBL
• Synonyms (NCBI Gene): CDLS, CDLS1, IDN3, IDN3-B, Scc2
• Chromosome: 5
• Chromosome location: 5p13.2
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 608667
• HGNC: 28862
• e!Ensembl: 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

Pathways

KEGG:

Cell cycle

Reactome:

Cohesin Loading onto Chromatin

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal brain morphology	Pathogenic	rs80358370	RCV001526581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal facial shape	Likely pathogenic	rs587784000	RCV000415074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adrenocortical carcinoma, hereditary	Pathogenic	rs587784009	RCV005888171	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly	Likely pathogenic	rs587784000	RCV000415074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft palate	Pathogenic	rs1554034812	RCV000626991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cornelia de Lange syndrome 1	Pathogenic; Likely pathogenic	rs398124465, rs398124466, rs80358362, rs398124471, rs398124474, rs794727556, rs781297222, rs80358367, rs80358382, rs80358364, rs80358374, rs80358386, rs80358369, rs80358372, rs80358366, rs80358373, rs80358360, rs80358363, rs80358361, rs80358376, rs80358384, rs80358370, rs80358368, rs80358371, rs2149644023, rs2149644816, rs2149646411, rs767317539, rs587783954, rs2149690678, rs2149696978, rs2149741562, rs2149755687, rs1157335847, rs2149730828, rs1251456909, rs2149761303, rs2149626924, rs2149710327, rs2149704635, rs2149597479, rs2149721379, rs2149759954, rs2149755613, rs2149619973, rs2149732594, rs2149721484, rs2149704501, rs2149681441, rs2149646812, rs2149646884, rs2149662539, rs2149607039, rs2149681631, rs2149607105, rs2149643696, rs2149730953, rs2149669144, rs2149643596, rs2149681475, rs34314728, rs2149643317, rs587783952, rs2149704475, rs2149737037, rs2149647035, rs2149646890, rs2149742261, rs2149752967, rs2478191869, rs2149718188, rs2149737162, rs2149668942, rs2149750114, rs2149761324, rs587783937, rs587784009, rs587784010, rs587784012, rs587784060, rs587783886, rs587783893, rs587783895, rs587783917, rs587783922, rs587783927, rs587783928, rs587783951, rs587783988, rs587783993, rs587784048, rs587784049, rs587784059, rs587784062, rs587784063, rs587784065, rs587783877, rs587783878, rs587783879, rs587783880, rs587783882, rs587783883, rs587783884, rs587783887, rs587783888, rs587783889, rs587783891, rs587783892, rs587783894, rs587783896, rs587783897, rs587783899, rs587783901, rs587783902, rs587783905, rs587783906, rs587783907, rs587783909, rs587783910, rs587783911, rs587783912, rs587783914, rs587783918, rs80358356, rs80358375, rs587783919, rs587783921, rs587783923, rs587783925, rs587783926, rs587783930, rs587783931, rs587783932, rs587783933, rs587783934, rs587783936, rs587783938, rs587783939, rs587783940, rs587783941, rs587783942, rs587783944, rs587783945, rs587783947, rs587783950, rs587783953, rs587783955, rs587783957, rs77632238, rs587783959, rs587783960, rs587783961, rs587783966, rs587783967, rs587783968, rs587783969, rs587783971, rs587783972, rs587783973, rs587783974, rs587783975, rs587783977, rs62654864, rs587783979, rs587783980, rs587783982, rs587783984, rs587783985, rs587783986, rs587783987, rs587783994, rs587783997, rs587783998, rs587784000, rs587784002, rs587784003, rs587784004, rs587784005, rs587784007, rs587784008, rs587784013, rs587784015, rs587784016, rs587784017, rs587784019, rs587784020, rs587784021, rs587784022, rs587784024, rs587784025, rs587784026, rs587784027, rs587784029, rs587784030, rs587784032, rs587784033, rs587784034, rs587784035, rs587784036, rs587784037, rs587784038, rs587784039, rs587784040, rs587784043, rs587784047, rs587784050, rs587784052, rs587784053, rs587784055, rs587784056, rs2149721417, rs2149676839, rs2149741447, rs2149702380, rs2149602979, rs2149755630, rs2149628965, rs2149643267, rs750864821, rs2149737108, rs2149621638, rs2478338103, rs2478758255, rs2479004072, rs778420641, rs121918264, rs121918265, rs1554011042, rs1561222491, rs1554016981, rs121918266, rs121918267, rs121918268, rs1561231553, rs121918269, rs724159980, rs727503768, rs727503770, rs727503767, rs727503766, rs727503769, rs730880331, rs727503772, rs727503771, rs2478659391, rs587783976, rs2478366575, rs2478340497, rs2479122663, rs2478658527, rs797045749, rs797045753, rs797045755, rs797045763, rs797045745, rs797045746, rs797045747, rs797045748, rs797045750, rs797045751, rs797045752, rs797045754, rs797045756, rs797045757, rs797045758, rs797045760, rs797045761, rs797045762, rs797045764, rs797045766, rs797045767, rs797045768, rs797045769, rs797045770, rs797045771, rs797045772, rs797045773, rs797045775, rs797045776, rs797045778, rs797045779, rs797045780, rs797045783, rs797045784, rs797045785, rs797045786, rs797045787, rs797045788, rs797045789, rs2478166905, rs2478089661, rs2477936695, rs2478079621, rs2478576911, rs2477932831, rs2478577140, rs528591545, rs1270894276, rs2478268894, rs2478718213, rs2478316314, rs2479004915, rs2478587495, rs2477925829, rs1411864734, rs2479033684, rs886041810, rs886042231, rs769095978, rs587783965, rs2478079570, rs2478250966, rs775080703, rs2478597345, rs2477917148, rs2478624537, rs770354010, rs2479033418, rs2478269274, rs2478106977, rs2478624222, rs2478733723, rs2478733662, rs2478718388, rs2478976928, rs2478089251, rs2478759512, rs2478516683, rs2478158664, rs2478318371, rs2478517111, rs2479124645, rs2478088445, rs2479131200, rs2149741483, rs2477938100, rs2477919768, rs2478086177, rs2478166056, rs2478251255, rs2478617885, rs2478588532, rs2478618302, rs2478771713, rs2478318349, rs1057516034, rs1057518944, rs1554017345, rs1554017661, rs1554019663, rs1554020997, rs1554031864, rs1554032085, rs1554032789, rs1554014382, rs1554011046, rs1554019698, rs1554030233, rs1554035311, rs1554017441, rs1554025675, rs1554030285, rs1554019667, rs1554015145, rs1554023967, rs1554015303, rs1561083229, rs1561164598, rs1561207924, rs1554025780, rs1554019712, rs1554032954, rs1554017175, rs1554035266, rs1554025252, rs1554025796, rs1554020579, rs1561102868, rs1561145912, rs1561222738, rs1561169166, rs1561214997, rs1580396071, rs1580425629, rs1580436698, rs1580451470, rs751902505, rs1579570362, rs1580323183, rs1580373035, rs1580396767, rs1580323151, rs1579557913, rs1580394197, rs1741183871, rs1748964402, rs1749739420, rs1754396332, rs1754603855, rs1755082448, rs1755224830, rs1740652803, rs1740845459, rs1740842785, rs1744639200, rs1746711848, rs1744695193, rs1753199066, rs1754594011, rs1753212131, rs1741192008, rs1743386760, rs1744682329, rs1746965734, rs1754192867, rs1747566758, rs1750049152, rs765741574	RCV000146547 RCV000146553 RCV000086382 RCV000146719 RCV000146743 RCV001377045 RCV001378278 RCV000086366 RCV000086367 RCV000086369 RCV000086375 RCV000086377 RCV000086379 RCV000086380 RCV000086383 RCV000086384 RCV000086385 RCV000086386 RCV000086387 RCV000086388 RCV000086389 RCV000086390 RCV000086392 RCV000086393 RCV001388847 RCV001390162 RCV001388525 RCV001389757 RCV001387621 RCV001385444 RCV001383591 RCV001388587 RCV001382045 RCV001389761 RCV001528132 RCV001559131 RCV001729992 RCV001733845 RCV001733846 RCV001771778 RCV001775298 RCV001775369 RCV001796999 RCV001808042 RCV001808232 RCV001872180 RCV001917637 RCV001975768 RCV001961980 RCV001997116 RCV001914292 RCV002044685 RCV001901074 RCV002001740 RCV001942032 RCV001956434 RCV001961725 RCV001897002 RCV001953674 RCV001914788 RCV001910884 RCV001975107 RCV001975108 RCV001958785 RCV001915707 RCV001974617 RCV001924512 RCV001922341 RCV002043740 RCV002077376 RCV002291313 RCV002244262 RCV002249109 RCV002250148 RCV002250150 RCV002251015 RCV000146596 RCV000146685 RCV000146686 RCV000146690 RCV000146746 RCV000146520 RCV000146531 RCV000146534 RCV000146566 RCV000146576 RCV000146582 RCV000146583 RCV000146613 RCV000146661 RCV000146666 RCV000146730 RCV000146731 RCV000146745 RCV000146748 RCV000146749 RCV000146751 RCV000146509 RCV000146510 RCV000146512 RCV000146513 RCV000146516 RCV000146517 RCV000146518 RCV000146519 RCV000146521 RCV000146522 RCV000146524 RCV000146526 RCV000146527 RCV000146532 RCV000146535 RCV000146536 RCV000146537 RCV000146539 RCV000146542 RCV000146543 RCV000146548 RCV000146549 RCV000146550 RCV000146555 RCV000146557 RCV000146558 RCV000146560 RCV000146563 RCV000146568 RCV000146569 RCV000146570 RCV000146571 RCV000146575 RCV000146577 RCV000146579 RCV000146581 RCV000146586 RCV000146587 RCV000146588 RCV000146590 RCV000146593 RCV000146595 RCV000146597 RCV000146598 RCV000146599 RCV000146600 RCV000146602 RCV000146604 RCV000146606 RCV000146608 RCV000146611 RCV000146614 RCV000146615 RCV000146616 RCV000146617 RCV000146619 RCV000146620 RCV000146624 RCV000146627 RCV000146628 RCV000146633 RCV000146634 RCV000795862 RCV000146636 RCV000146638 RCV000146641 RCV000146642 RCV000146643 RCV000146644 RCV000146646 RCV000146647 RCV000146650 RCV000146651 RCV000146653 RCV000146655 RCV000146656 RCV000146657 RCV000146658 RCV000146667 RCV000146671 RCV000146673 RCV000146675 RCV000146677 RCV000146678 RCV000146679 RCV000146680 RCV000146683 RCV000146684 RCV000146691 RCV000146693 RCV000146695 RCV000146696 RCV000146698 RCV000146699 RCV000146700 RCV000146701 RCV000146704 RCV000146705 RCV000146706 RCV000146707 RCV000146708 RCV000146710 RCV000146711 RCV000146713 RCV000146714 RCV000146715 RCV000146716 RCV000146717 RCV000146718 RCV000146720 RCV000146721 RCV000146722 RCV000146725 RCV000146729 RCV000146735 RCV000146737 RCV000146738 RCV000146740 RCV000146741 RCV002269134 RCV002269140 RCV002269141 RCV002269142 RCV002269143 RCV002269144 RCV002271359 RCV002271360 RCV002272714 RCV002272977 RCV002273104 RCV002283759 RCV002283798 RCV002285123 RCV002290145 RCV002293391 RCV000002221 RCV000002222 RCV000002223 RCV000002224 RCV000002225 RCV000002226 RCV000002228 RCV000002229 RCV000002230 RCV000002232 RCV000002233 RCV000157044 RCV000157046 RCV000157043 RCV000157042 RCV000157045 RCV000157041 RCV000157048 RCV000157047 RCV002611776 RCV002651898 RCV002651899 RCV002820124 RCV002797019 RCV002815839 RCV000192596 RCV000194119 RCV000192791 RCV000193348 RCV000192354 RCV000194449 RCV000193488 RCV000194718 RCV000193424 RCV000194656 RCV000192908 RCV000194589 RCV000194051 RCV000193100 RCV000193944 RCV000193404 RCV000194257 RCV000192461 RCV000194191 RCV000193602 RCV000194873 RCV000192335 RCV000193538 RCV000194767 RCV000193008 RCV000193856 RCV000194706 RCV000194053 RCV000194935 RCV000194372 RCV000192628 RCV000193077 RCV000194236 RCV000192441 RCV000193652 RCV000194911 RCV000192755 RCV000193586 RCV000194810 RCV002838309 RCV002862359 RCV002866712 RCV002852430 RCV002890889 RCV003016019 RCV003000187 RCV003003219 RCV003020098 RCV003059443 RCV003057009 RCV003043183 RCV003054857 RCV003128096 RCV003135424 RCV003148082 RCV003153052 RCV003222592 RCV001054633 RCV000346239 RCV003459826 RCV003314372 RCV003330287 RCV003333614 RCV003335891 RCV003388852 RCV003447711 RCV003498863 RCV003498168 RCV003498896 RCV003498945 RCV003499031 RCV003499257 RCV003499743 RCV003499579 RCV003497671 RCV003497602 RCV003497428 RCV003497700 RCV003497755 RCV003498447 RCV003498311 RCV003498551 RCV003498647 RCV003604393 RCV003604309 RCV003604721 RCV003605068 RCV003883359 RCV003988165 RCV003990458 RCV003994877 RCV004018038 RCV004515782 RCV004527247 RCV004555180 RCV004555210 RCV004594766 RCV004595203 RCV000408616 RCV001196333 RCV000503495 RCV000502417 RCV000501521 RCV000503300 RCV000503525 RCV000499947 RCV000515734 RCV000515746 RCV000535205 RCV000555256 RCV000544465 RCV000551293 RCV000553774 RCV000531426 RCV000556866 RCV000542226 RCV000533708 RCV000559923 RCV000722170 RCV000680257 RCV000680255 RCV000680256 RCV001380292 RCV000653708 RCV000653705 RCV000653706 RCV000653704 RCV001209041 RCV000675187 RCV000677702 RCV000694012 RCV000704470 RCV000704114 RCV000684902 RCV000707689 RCV000688069 RCV000820519 RCV000802550 RCV000823067 RCV000806817 RCV000820319 RCV000798739 RCV000796217 RCV000825001 RCV000853369 RCV000987509 RCV000987512 RCV001030046 RCV001067929 RCV001044837 RCV001057319 RCV001069183 RCV001069685 RCV001039348 RCV001071919 RCV001043668 RCV001089569 RCV001169942 RCV001195989 RCV001197327 RCV001199109 RCV001222474 RCV001213892 RCV001204157 RCV001224317 RCV001227884 RCV001235669 RCV001232098 RCV001230878 RCV001261283 RCV001283782 RCV003497920 RCV001296772	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Lange syndrome	Pathogenic	rs80358372, rs866740147	RCV005624324 RCV000770972	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs587784000	RCV000415074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Horseshoe kidney	Likely pathogenic	rs1743394245	RCV001257266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs587784000, rs1752883292	RCV000415074 RCV001257608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs1554034812	RCV000626991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild intellectual disability	Likely pathogenic	rs1743394245	RCV001257266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs2149510283	RCV001731236	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs1554019712	RCV002274082	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs1561231553	RCV003389158	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NIPBL-related disorder	Pathogenic; Likely pathogenic	rs398124466, rs80358367, rs80358368, rs727503767, rs587783968, rs587784024, rs587784036, rs587784037, rs587784043, rs2149737108, rs2478986417, rs2478618205, rs2478625150, rs2479126277, rs2477935977, rs2477938100, rs2478624702, rs1579570362	RCV003925084 RCV003935082 RCV003964960 RCV003399411 RCV003415975 RCV003398785 RCV003407564 RCV004724927 RCV004739469 RCV004741276 RCV003404183 RCV003416767 RCV003400175 RCV003410575 RCV003403070 RCV003899055 RCV003942056 RCV003411756	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2478145437	RCV005931787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Plagiocephaly	Likely pathogenic	rs1743394245	RCV001257266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs1743394245	RCV001257266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs886043046	RCV005895711	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Pathogenic	rs1554034812	RCV000626991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vesicoureteral reflux	Likely pathogenic	rs1743394245	RCV001257266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DIAPHRAGMATIC HERNIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF LUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNELIA DE LANGE SYNDROME	—	CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 54	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft 1	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENILE HYPOSPADIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGHT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICO-URETERAL REFLUX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
5p13 microduplication syndrome	5p13 Duplication Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Accessory rib	Accessory Rib	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	32511891	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos with limb anomalies	Anophthalmia	Pubtator	32193685	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	19309268		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	19309268		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	27120335	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	25996639	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	16236812	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	16606884		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	36093091	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	25125236	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	19763162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	BEFREE	28987049		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28987049	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25963978	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29670369		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	22676896	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33999553	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 5p13 Duplication Syndrome	5p13 Duplication Syndrome	ORPHANET_DG	23085304		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	31980658	Associate	★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	28120103		★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22127497		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18299561		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	20156239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dislocation of radial head	Dislocated radial head	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	19763162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of lung	Pulmonary hypoplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular hypertrophy-cerebral syndrome	Congenital Muscular Hypertrophy-Cerebral Syndrome	CTD_human_DG	19763162, 19886366, 29379197		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	10480362, 11391654, 15146185, 15146186, 15318302, 16075459, 16100726, 16236812, 16606884, 16799922, 17264868, 17273969, 17413424, 17468178, 17661813, 19052029, 19242925, 19690971, 19701948, 19793304, 20156239, 20331678, 20358602, 20448023, 20687500, 20727427, 20824775, 21165303, 21338332, 22140011, 22241092, 22353942, 22676896, 22857006, 22885700, 23254390, 23505322, 23551878, 23683030, 23760082, 24038889, 24136230, 24218399, 24550742, 24874887, 24918291, 25075551, 25125236, 25196272, 25447906, 25655089, 26276849, 26463496, 26701315, 26725122, 26925417, 27120001, 27125329, 27164022, 28041881, 28102598, 28241484, 28679547, 29155047, 29261648, 29279609, 29348408, 29379197, 30302754, 30367527, 30606125, 30614194, 30770747, 30806031, 31320616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	CLINGEN_DG	15146185, 15146186, 19763162, 22628566, 25255084, 26544867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	LHGDN	15146186, 15591270, 16236812, 17106445, 17264868, 17661813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	CTD_human_DG	19763162, 19886366, 29379197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia de Lange syndrome	Cornelia De Lange Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornelia de Lange Syndrome 1	Cornelia De Lange Syndrome	GENOMICS_ENGLAND_DG	11391654, 27164022, 29440723, 8291537		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cornelia de Lange Syndrome 1	Cornelia De Lange Syndrome	UNIPROT_DG	15146185, 15146186, 15318302, 20124326, 20358602, 21934712, 23254390, 25447906, 28167679		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cornelia de Lange Syndrome 1	Cornelia De Lange Syndrome	CLINVAR_DG	15318302, 16100726, 16236812, 17221863, 17661813, 20824775, 23254390, 23505322, 24038889, 24635725, 24874887, 26701315, 26725122, 26925417, 26938784, 30158690		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cornelia de Lange Syndrome 1	Cornelia De Lange Syndrome	CTD_human_DG	19763162, 19886366, 29379197		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cornelia de Lange Syndrome 3	Cornelia De Lange Syndrome	CTD_human_DG	19763162, 19886366, 29379197		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28629661		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	15318302, 16100726, 16236812, 16865217, 17273969, 18996922, 19052029, 19701948, 20358602, 20448023, 20583156, 21165303, 21934712, 22241092, 22353942, 22676896, 22857006, 22885700, 23254390, 23760082, 24145515, 24550742, 24756084, 24918291, 25075551, 25125236, 25652421, 25655089, 26176819, 26276849, 26463496, 26581180, 26701315, 26925417, 27445573, 28241484, 28425213, 28679547, 29261648, 29348408, 29452578, 30367527, 30515000, 30606125, 30614194, 30770747, 31872982, 32074972, 32125084, 32433956, 32511891, 32532882, 33277604, 34315879, 34326454, 34617417, 34827619, 35476527, 35627125, 35834947, 36011323, 36041635, 36056433, 36093091, 37372421, 38284454, 39682772, 39983729, 40186517	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental Disabilities	Development Disorder	BEFREE	22857006, 23760082, 26701315, 28041881		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35441233	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	24550742	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33034274	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	31648989	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	34348663	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23085304		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gonadal Dysgenesis, 45,X	Gonadal Dysgenesis	BEFREE	22676896		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	22676896	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	22676896	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22965847	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29348408, 32037394	Associate	★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	24774220		★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32614269	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26164757, 26206533, 28041881		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Volvulus	Intestinal Volvulus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	23085304		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	24218399		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	33999553	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25963978	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28987049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	31648989		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29670369		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28789700		★☆☆☆☆ Found in Text Mining only
Malrotation of colon	Malrotation of colon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	26206533		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	24218399		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15318302, 22740382, 23263593, 25209348, 26537453		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28789700, 29670369		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	27291393		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28987049, 29670369		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodactyly	Oligodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phocomelia	Phocomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phthisis bulbi	Phthisis bulbi	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	22676896	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	16606884		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Roberts Syndrome	Roberts syndrome	Pubtator	17273969	Associate	★☆☆☆☆ Found in Text Mining only
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	BEFREE	17273969		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	30770747		★☆☆☆☆ Found in Text Mining only
Sacrococcygeal teratoma	Sacrococcygeal teratoma	BEFREE	26276849		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	24774220		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	27637763		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 44	Spinocerebellar Ataxia	BEFREE	30367527		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15619206, 28789700, 8921834		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	30244508		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28251343		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tourette Syndrome	Tourette syndrome	Pubtator	28472652	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	29155047		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	22676896, 27164022		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	22676896	Associate	★☆☆☆☆ Found in Text Mining only
Unilateral Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Tract Infections	Urinary tract infection	Pubtator	36093091	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms Tumor	Wilms tumor	Pubtator	27291393	Associate	★☆☆☆☆ Found in Text Mining only