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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	157680
Gene name	Vacuolar protein sorting 13 homolog B
Gene symbol	VPS13B
Synonyms (NCBI Gene)	BLTP5BCHS1COH1
Chromosome	8
Chromosome location	8q22.2
Summary	This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central ner

401

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28940272	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs61754107	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs61754109	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs61759485	A>G	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs73273219	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs74485751	A>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs112634620	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs113671330	A>G	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs117148013	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs118158347	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs120074149	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs120074150	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs120074151	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs120074152	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs120074153	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs120074154	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs120074155	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs138417551	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs139141291	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs140095832	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs140179844	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs140353201	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs140601319	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs140936527	C>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs141324814	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs141703746	T>C,G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs142674934	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs142971568	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs143024324	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, missense variant, coding sequence variant
rs143205296	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs144350008	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs144539572	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs145208175	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs145279584	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant, synonymous variant
rs145547375	A>G	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs145569846	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs145741622	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs145890213	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs146960401	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs148704031	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148777544	A>T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs149176010	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs149318176	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs149478021	C>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs149531438	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs149866274	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs150272676	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs150393340	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs150573530	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs150783688	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs180177327	CT>-	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177329	->T	Not-provided, pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177354	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177355	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs180177356	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs180177357	->GCTC	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177358	GT>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs180177359	->ATA	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177360	G>A,C,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs180177361	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177362	AGTGTGGCTCAAGTTCAA>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs180177363	->AG	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177364	->C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177365	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177366	G>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs180177367	GG>ATGGAGC,G	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs180177368	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177369	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177370	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs180177371	AG>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177372	G>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs180177373	AT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177374	->C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs199755508	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs201354177	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs201650333	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs201963516	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs202046738	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs202226215	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs371364257	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs372327659	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs372949456	C>A,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs373474658	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs373968888	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs386834054	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834055	->A	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834056	TCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834057	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834058	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834059	->GGAC	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834060	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834061	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834062	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834063	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834064	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834065	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834066	AGTG>-	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834067	CAGTG>AA,AGAA	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, inframe indel, genic downstream transcript variant, frameshift variant
rs386834069	CCAGCTGTTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834070	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834071	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834072	ATTGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834073	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834074	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834075	AC>T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834077	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834078	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834079	A>G	Likely-pathogenic	Splice acceptor variant
rs386834080	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834081	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834082	T>A,C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs386834083	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834084	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834085	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834086	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834087	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834088	CTT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs386834089	A>-,AA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834090	ATAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834091	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs386834093	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834094	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834096	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834097	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834098	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834099	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834100	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834101	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834102	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834103	A>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834104	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386834105	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834106	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs386834107	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834108	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834109	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834110	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834111	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834112	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs386834113	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834114	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834115	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834116	A>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, intron variant
rs386834117	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834119	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834120	A>C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834121	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834122	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs398124330	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs533701597	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs542757501	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs587777382	T>C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs727504219	T>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs745404712	A>C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs747217399	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs747363890	G>A,C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs748404277	AT>-	Uncertain-significance, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs750003804	G>C,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs750092574	G>A,C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs750609612	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs752429062	C>G,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs753282248	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs753645306	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs753770252	C>G,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs754016783	->A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs755125969	C>-	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs755996065	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs756013171	G>A,C,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs758028194	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs759374475	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs759536357	ACTT>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs760564848	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs761273297	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs761736983	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs763079458	G>A,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs763909903	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs764225649	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs764544747	T>-	Conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs764776104	C>G,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs765302278	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs765998879	T>A	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs767239312	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs767518464	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs767858119	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs768342041	G>C,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs768801125	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs771308343	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs771667880	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs773094891	T>A,C,G	Likely-pathogenic	Missense variant, stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant
rs773945333	ATCT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs774357106	A>-,AA	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs775883776	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs777593389	C>T	Pathogenic-likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs780598553	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs781781537	C>A,T	Not-provided, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs786204456	CCAGCTGTTCT>G	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs786204533	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs794727771	C>G	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs797046098	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs863223386	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs867112705	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs869312923	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs875989882	CTCACACTGGACAACATTTTTCTCTGTGTGGCCCCGGGAGCTG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041184	A>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041185	->A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041323	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041586	TT>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041587	TGTC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041678	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886042930	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886062546	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs930144563	G>A	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant, genic downstream transcript variant
rs933746831	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs941969577	C>T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs980463746	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1014496937	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1034855385	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1057516245	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516274	AC>G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516276	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516284	CAAA>TGT	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516287	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516302	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516324	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516331	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516422	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1057516437	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516484	G>A,C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs1057516489	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516494	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516532	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516538	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516558	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516559	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516568	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516614	CC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516633	C>T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516651	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516653	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516660	A>C,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs1057516663	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516670	->ATCATATCAGGCCTCTGAA	Pathogenic-likely-pathogenic	Genic downstream transcript variant, inframe indel, coding sequence variant, stop gained
rs1057516681	A>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516694	G>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516789	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516807	AGT>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1057516834	AA>T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516840	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516841	TATAGC>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1057516845	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516857	G>A	Likely-pathogenic	Splice donor variant
rs1057516923	G>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516926	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516971	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517063	G>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517076	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517137	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517168	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517177	AACAAGAC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517202	CACTGGATGA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517236	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517255	A>CC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517283	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517295	G>A,T	Likely-pathogenic	Splice donor variant
rs1057517318	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517319	TTTG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517328	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517338	AAAAG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517376	GC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517385	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057517393	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517438	->G	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517441	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057517447	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057518228	->AGGG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057518939	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057519182	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1057520768	G>A	Pathogenic	Splice acceptor variant
rs1057520769	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1064793747	CA>T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064795251	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064796925	TT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1085307957	G>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1161589003	TCAC>-,TCACTCAC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1176397159	->A	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1188811827	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1200459145	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1235993153	G>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1301330402	->TTT	Likely-pathogenic	Inframe indel, coding sequence variant, stop gained, genic downstream transcript variant
rs1347701279	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1354326532	TTTG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1357171752	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1364947213	->TACT	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1378196300	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1394681818	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1408744761	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1434257397	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1456528242	A>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1469729130	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554560668	GTTGGGGCAACTGGCGTTGGTCAGAG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554560735	GT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554565484	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554565537	ACATT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554565558	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554565645	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554566396	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554566596	G>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554569259	A>G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554570388	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554574028	CAGA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554575679	A>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554575693	GGAACACAGGTCAG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, splice donor variant, intron variant
rs1554579522	GTTG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs1554581156	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554581267	TC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581430	TTCA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581504	TT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581632	TT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581676	AC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581821	TCT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1554586953	->G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554586972	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554586994	CA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554587021	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554588038	A>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554588353	A>G	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554588477	AG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554588489	AG>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554590314	->AGAT	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554612610	A>G	Likely-pathogenic	Intron variant
rs1554622608	TATC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554622622	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554622647	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554622718	A>-	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554625617	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554625632	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554625693	GAGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554625838	A>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554625872	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554634091	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554634138	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554645551	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554652265	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554665974	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554666009	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554706114	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554706149	GCTCAATC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554706285	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554706662	TC>AAT	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554765140	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554765173	T>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554767735	A>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554788238	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554793521	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554807146	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554814266	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554814271	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554822819	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554826566	AC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554826615	GA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554843814	A>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554843942	->A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554852945	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554853667	T>CC	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554853676	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554884575	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554884733	->GTCC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554884838	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554884932	A>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554892004	A>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554892040	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554911430	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554911481	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554911731	GGAGAGCTGT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554922054	->TA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554924412	A>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554948192	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554952465	->AGGCA	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554952467	->C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554952554	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554955952	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1563497844	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1563499381	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1563509743	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1563700124	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1563700205	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1563726973	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1563908020	T>C	Pathogenic-likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1588038825	TAAT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1588038976	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1588048848	T>C	Likely-pathogenic	Splice donor variant
rs1588095580	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1588410519	GGCTACAGTCCAAAATCAAGGTATCAGATCACATTTATGTAATGTGATCTGTTTTCTCTGGCCTCCAGGGTTTGCATACGTCCCCAACAGTTTCACAATACAACCAACTAGGGTAAGGGAAGAAGAAGTTAGAACTTTTATTTTTATTTTTATCCCATATATTTAATTTCTGTTAATGTACGGTTTATAGTGTATATAATTACTGACAGAATTTTCAGTAGCATGTAAATTGTTTAGCACCGTGGTCTCAGGAAT	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant, coding sequence variant
rs1588491546	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1588491595	GT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588579347	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588635717	CA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588743576	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588810676	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588810695	->AACA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588811810	->CTCT	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

201

Show/Hide all (201)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018276	hsa-miR-335-5p	Microarray	18185580
MIRT045176	hsa-miR-186-5p	CLASH	23622248
MIRT044160	hsa-miR-30e-5p	CLASH	23622248
MIRT488703	hsa-miR-4705	PAR-CLIP	20371350
MIRT488701	hsa-miR-4494	PAR-CLIP	20371350
MIRT488702	hsa-miR-499b-5p	PAR-CLIP	20371350
MIRT488700	hsa-miR-3613-5p	PAR-CLIP	20371350
MIRT488703	hsa-miR-4705	PAR-CLIP	23592263
MIRT488701	hsa-miR-4494	PAR-CLIP	23592263
MIRT488702	hsa-miR-499b-5p	PAR-CLIP	23592263
MIRT488700	hsa-miR-3613-5p	PAR-CLIP	23592263
MIRT488703	hsa-miR-4705	PAR-CLIP	20371350
MIRT488701	hsa-miR-4494	PAR-CLIP	20371350
MIRT488702	hsa-miR-499b-5p	PAR-CLIP	20371350
MIRT488700	hsa-miR-3613-5p	PAR-CLIP	20371350
MIRT488703	hsa-miR-4705	PAR-CLIP	23592263
MIRT488701	hsa-miR-4494	PAR-CLIP	23592263
MIRT488702	hsa-miR-499b-5p	PAR-CLIP	23592263
MIRT488700	hsa-miR-3613-5p	PAR-CLIP	23592263
MIRT1485928	hsa-miR-1273e	CLIP-seq
MIRT1485929	hsa-miR-1303	CLIP-seq
MIRT1485930	hsa-miR-1324	CLIP-seq
MIRT1485931	hsa-miR-2114	CLIP-seq
MIRT1485932	hsa-miR-300	CLIP-seq
MIRT1485933	hsa-miR-3135b	CLIP-seq
MIRT1485934	hsa-miR-3159	CLIP-seq
MIRT1485935	hsa-miR-361-5p	CLIP-seq
MIRT1485936	hsa-miR-3616-5p	CLIP-seq
MIRT1485937	hsa-miR-3647-5p	CLIP-seq
MIRT1485938	hsa-miR-3652	CLIP-seq
MIRT1485939	hsa-miR-3689a-3p	CLIP-seq
MIRT1485940	hsa-miR-3689c	CLIP-seq
MIRT1485941	hsa-miR-371-5p	CLIP-seq
MIRT1485942	hsa-miR-371b-5p	CLIP-seq
MIRT1485943	hsa-miR-381	CLIP-seq
MIRT1485944	hsa-miR-4263	CLIP-seq
MIRT1485945	hsa-miR-4311	CLIP-seq
MIRT1485946	hsa-miR-4430	CLIP-seq
MIRT1485947	hsa-miR-4646-5p	CLIP-seq
MIRT1485948	hsa-miR-4699-3p	CLIP-seq
MIRT1485949	hsa-miR-4728-5p	CLIP-seq
MIRT1485950	hsa-miR-4729	CLIP-seq
MIRT1485951	hsa-miR-4766-5p	CLIP-seq
MIRT1485952	hsa-miR-4799-5p	CLIP-seq
MIRT1485953	hsa-miR-485-5p	CLIP-seq
MIRT1485954	hsa-miR-495	CLIP-seq
MIRT1485955	hsa-miR-548ae	CLIP-seq
MIRT1485956	hsa-miR-548aj	CLIP-seq
MIRT1485957	hsa-miR-548am	CLIP-seq
MIRT1485958	hsa-miR-548x	CLIP-seq
MIRT1485959	hsa-miR-573	CLIP-seq
MIRT1485960	hsa-miR-576-5p	CLIP-seq
MIRT1485961	hsa-miR-579	CLIP-seq
MIRT1485962	hsa-miR-624	CLIP-seq
MIRT1485963	hsa-miR-656	CLIP-seq
MIRT1485964	hsa-miR-668	CLIP-seq
MIRT1485965	hsa-miR-877	CLIP-seq
MIRT1485966	hsa-miR-1252	CLIP-seq
MIRT1485967	hsa-miR-2110	CLIP-seq
MIRT1485968	hsa-miR-3164	CLIP-seq
MIRT1485969	hsa-miR-4271	CLIP-seq
MIRT1485970	hsa-miR-4289	CLIP-seq
MIRT1485971	hsa-miR-4533	CLIP-seq
MIRT1485972	hsa-miR-4633-5p	CLIP-seq
MIRT1485973	hsa-miR-4725-3p	CLIP-seq
MIRT1485950	hsa-miR-4729	CLIP-seq
MIRT1485974	hsa-miR-4747-5p	CLIP-seq
MIRT1485975	hsa-miR-491-5p	CLIP-seq
MIRT1485961	hsa-miR-579	CLIP-seq
MIRT1485976	hsa-miR-593	CLIP-seq
MIRT1485977	hsa-miR-617	CLIP-seq
MIRT2146077	hsa-miR-1264	CLIP-seq
MIRT2146078	hsa-miR-1269	CLIP-seq
MIRT2146079	hsa-miR-1269b	CLIP-seq
MIRT2146080	hsa-miR-1288	CLIP-seq
MIRT1485939	hsa-miR-3689a-3p	CLIP-seq
MIRT1485940	hsa-miR-3689c	CLIP-seq
MIRT2146081	hsa-miR-3692	CLIP-seq
MIRT2146082	hsa-miR-376a	CLIP-seq
MIRT2146083	hsa-miR-376b	CLIP-seq
MIRT2146084	hsa-miR-4515	CLIP-seq
MIRT2146085	hsa-miR-4694-3p	CLIP-seq
MIRT2146086	hsa-miR-4698	CLIP-seq
MIRT1485949	hsa-miR-4728-5p	CLIP-seq
MIRT2146087	hsa-miR-4740-5p	CLIP-seq
MIRT2146088	hsa-miR-4774-5p	CLIP-seq
MIRT2366602	hsa-miR-4786-5p	CLIP-seq
MIRT2366603	hsa-miR-769-5p	CLIP-seq
MIRT2463265	hsa-miR-1251	CLIP-seq
MIRT2463266	hsa-miR-1262	CLIP-seq
MIRT2463267	hsa-miR-3156-3p	CLIP-seq
MIRT2463268	hsa-miR-4293	CLIP-seq
MIRT2463269	hsa-miR-4301	CLIP-seq
MIRT2463270	hsa-miR-4701-3p	CLIP-seq
MIRT2463271	hsa-miR-596	CLIP-seq
MIRT2463272	hsa-miR-661	CLIP-seq
MIRT2463265	hsa-miR-1251	CLIP-seq
MIRT2463266	hsa-miR-1262	CLIP-seq
MIRT2463267	hsa-miR-3156-3p	CLIP-seq
MIRT2463268	hsa-miR-4293	CLIP-seq
MIRT2463269	hsa-miR-4301	CLIP-seq
MIRT2463270	hsa-miR-4701-3p	CLIP-seq
MIRT2463271	hsa-miR-596	CLIP-seq
MIRT2463272	hsa-miR-661	CLIP-seq
MIRT2659995	hsa-miR-1207-3p	CLIP-seq
MIRT2659996	hsa-miR-1228	CLIP-seq
MIRT2463265	hsa-miR-1251	CLIP-seq
MIRT2146078	hsa-miR-1269	CLIP-seq
MIRT2146079	hsa-miR-1269b	CLIP-seq
MIRT2659997	hsa-miR-1285	CLIP-seq
MIRT2146080	hsa-miR-1288	CLIP-seq
MIRT1485931	hsa-miR-2114	CLIP-seq
MIRT2659998	hsa-miR-3122	CLIP-seq
MIRT1485933	hsa-miR-3135b	CLIP-seq
MIRT2659999	hsa-miR-3150b-3p	CLIP-seq
MIRT2660000	hsa-miR-3157-5p	CLIP-seq
MIRT2660001	hsa-miR-3174	CLIP-seq
MIRT2660002	hsa-miR-3183	CLIP-seq
MIRT2660003	hsa-miR-3187-5p	CLIP-seq
MIRT2660004	hsa-miR-323-5p	CLIP-seq
MIRT2660005	hsa-miR-3545-3p	CLIP-seq
MIRT1485938	hsa-miR-3652	CLIP-seq
MIRT2660006	hsa-miR-3675-3p	CLIP-seq
MIRT1485939	hsa-miR-3689a-3p	CLIP-seq
MIRT1485940	hsa-miR-3689c	CLIP-seq
MIRT2660007	hsa-miR-3689d	CLIP-seq
MIRT2660008	hsa-miR-3913-5p	CLIP-seq
MIRT2660009	hsa-miR-3945	CLIP-seq
MIRT2660010	hsa-miR-4253	CLIP-seq
MIRT2660011	hsa-miR-4282	CLIP-seq
MIRT1485946	hsa-miR-4430	CLIP-seq
MIRT2146084	hsa-miR-4515	CLIP-seq
MIRT2660012	hsa-miR-4530	CLIP-seq
MIRT2660013	hsa-miR-4689	CLIP-seq
MIRT2660014	hsa-miR-4691-3p	CLIP-seq
MIRT2146085	hsa-miR-4694-3p	CLIP-seq
MIRT2660015	hsa-miR-4712-3p	CLIP-seq
MIRT2660016	hsa-miR-4723-3p	CLIP-seq
MIRT1485949	hsa-miR-4728-5p	CLIP-seq
MIRT2146087	hsa-miR-4740-5p	CLIP-seq
MIRT2146088	hsa-miR-4774-5p	CLIP-seq
MIRT2660017	hsa-miR-4784	CLIP-seq
MIRT2366602	hsa-miR-4786-5p	CLIP-seq
MIRT1485953	hsa-miR-485-5p	CLIP-seq
MIRT2660018	hsa-miR-515-5p	CLIP-seq
MIRT2660019	hsa-miR-548aa	CLIP-seq
MIRT2660020	hsa-miR-548c-3p	CLIP-seq
MIRT2660021	hsa-miR-590-3p	CLIP-seq
MIRT2660022	hsa-miR-612	CLIP-seq
MIRT2366603	hsa-miR-769-5p	CLIP-seq
MIRT2660023	hsa-miR-876-3p	CLIP-seq
MIRT2660024	hsa-miR-921	CLIP-seq
MIRT2659995	hsa-miR-1207-3p	CLIP-seq
MIRT2659996	hsa-miR-1228	CLIP-seq
MIRT2463265	hsa-miR-1251	CLIP-seq
MIRT2463266	hsa-miR-1262	CLIP-seq
MIRT2146078	hsa-miR-1269	CLIP-seq
MIRT2146079	hsa-miR-1269b	CLIP-seq
MIRT2659997	hsa-miR-1285	CLIP-seq
MIRT2146080	hsa-miR-1288	CLIP-seq
MIRT2659998	hsa-miR-3122	CLIP-seq
MIRT2659999	hsa-miR-3150b-3p	CLIP-seq
MIRT2463267	hsa-miR-3156-3p	CLIP-seq
MIRT2660001	hsa-miR-3174	CLIP-seq
MIRT2660002	hsa-miR-3183	CLIP-seq
MIRT2660003	hsa-miR-3187-5p	CLIP-seq
MIRT2660005	hsa-miR-3545-3p	CLIP-seq
MIRT2660006	hsa-miR-3675-3p	CLIP-seq
MIRT1485939	hsa-miR-3689a-3p	CLIP-seq
MIRT1485940	hsa-miR-3689c	CLIP-seq
MIRT2660007	hsa-miR-3689d	CLIP-seq
MIRT2146081	hsa-miR-3692	CLIP-seq
MIRT2660008	hsa-miR-3913-5p	CLIP-seq
MIRT2660009	hsa-miR-3945	CLIP-seq
MIRT2660010	hsa-miR-4253	CLIP-seq
MIRT2660011	hsa-miR-4282	CLIP-seq
MIRT2463268	hsa-miR-4293	CLIP-seq
MIRT2463269	hsa-miR-4301	CLIP-seq
MIRT2146084	hsa-miR-4515	CLIP-seq
MIRT2660012	hsa-miR-4530	CLIP-seq
MIRT1485947	hsa-miR-4646-5p	CLIP-seq
MIRT2660013	hsa-miR-4689	CLIP-seq
MIRT2146085	hsa-miR-4694-3p	CLIP-seq
MIRT2146086	hsa-miR-4698	CLIP-seq
MIRT2463270	hsa-miR-4701-3p	CLIP-seq
MIRT2660015	hsa-miR-4712-3p	CLIP-seq
MIRT2660016	hsa-miR-4723-3p	CLIP-seq
MIRT1485949	hsa-miR-4728-5p	CLIP-seq
MIRT2146087	hsa-miR-4740-5p	CLIP-seq
MIRT2146088	hsa-miR-4774-5p	CLIP-seq
MIRT2660017	hsa-miR-4784	CLIP-seq
MIRT2366602	hsa-miR-4786-5p	CLIP-seq
MIRT2660018	hsa-miR-515-5p	CLIP-seq
MIRT2695029	hsa-miR-542-3p	CLIP-seq
MIRT2660019	hsa-miR-548aa	CLIP-seq
MIRT2660021	hsa-miR-590-3p	CLIP-seq
MIRT2463271	hsa-miR-596	CLIP-seq
MIRT2660022	hsa-miR-612	CLIP-seq
MIRT2463272	hsa-miR-661	CLIP-seq
MIRT2366603	hsa-miR-769-5p	CLIP-seq
MIRT2660024	hsa-miR-921	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	25492866
GO:0001675	Process	Acrosome assembly	IEA
GO:0001675	Process	Acrosome assembly	ISS
GO:0002080	Component	Acrosomal membrane	IEA
GO:0002080	Component	Acrosomal membrane	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0007030	Process	Golgi organization	IMP	25492866
GO:0007399	Process	Nervous system development	IMP	32560273
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0007420	Process	Brain development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007613	Process	Memory	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IMP	32375900
GO:0021542	Process	Dentate gyrus development	IEA
GO:0031175	Process	Neuron projection development	TAS	25492866
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	ISS
GO:0032458	Process	Slow endocytic recycling	IDA	30962439
GO:0032588	Component	Trans-Golgi network membrane	IDA	21865173
GO:0033106	Component	Cis-Golgi network membrane	IDA	21865173
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IDA	21865173
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036438	Process	Maintenance of lens transparency	IEA
GO:0036438	Process	Maintenance of lens transparency	ISS
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0060323	Process	Head morphogenesis	IEA
GO:0060612	Process	Adipose tissue development	IMP	26358774
GO:0090168	Process	Golgi reassembly	IMP	21865173

MIM	HGNC	e!Ensembl
607817	2183	ENSG00000132549

Q7Z7G8

Protein name

Intermembrane lipid transfer protein VPS13B (Cohen syndrome protein 1) (Vacuolar protein sorting-associated protein 13B)

Protein function

Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phosphatidylinositol 3-phosphate (By similarity). Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic betw

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12624	Chorein_N	2 → 120	N-terminal region of Chorein or VPS13	Family
PF06650	SHR-BD	2628 → 2728	SHR-binding domain of vacuolar-sorting associated protein 13	Family
PF16909	VPS13_C	3571 → 3734	Vacuolar-sorting-associated 13 protein C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:12730828). There is apparent differential expression of different transcripts (PubMed:12730828, PubMed:19006247). In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified (PubMed:12

Sequence

MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSG
HIHELRIHVPWTKLGSEPVVITINTMECILKLKDGIQDDHESCGSNSTNRSTAESTKSSI
KPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT
VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHF
TYENLNSKMPSVIKIHTLVESLKLSITDQQLPMFIRIMQLGIALYYGEIGNFKEGEIEDL
TCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD
DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKS
KEVLCWEQEGTTVEALMMGEPFFDCQIGFVGCRAMCLKGIMGVKDFEENMNRSETEACFF
ICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY
LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVC
ALEHEYEPYSRLKSDIKDENETILNPEEVALLEEYIPTRHTSVTLLKCTCTISMAEFNLL
DHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ
PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTK
RSQIAITEGIFELPNLTIQATRAQTLLLQAIYQSWSHLGNVSSSAVIEALINEIFLSIGV
KSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD
TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPIL
YTWLIYQPQKRTSRHMQQQPVVAVPLVMPVCRRKEDEVSIGSAPLAKQQSYQASEYASSP
VKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI
PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFV
IPRPILEEGDAFPWTISLHNFSIYTLLGKQVTLCLVEPMGCTSTLAVTSQKLLATGPDTR
HSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV
PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSG
RVSLWMQWVLPKITIKLFAPDPENKGTEVCMVSELEDLSASIDVQDVYTKVKCKIESFNI
DHYRSSLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPSTTTKLLD
GTHQQHGFLSLTYTKAVTKNVRHKLTSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFD
IVLYFPLLNAIASIFQAKLPKTQKEKRKSPGQPMRTHTLTSRNLPLIYVNTSVIRIFIPK
TEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGS
EIEDRQYQIDLQSINIGTAQWHQLKPEKESVSGGVVTETERNSQNPALEWNMASSIRRHQ
ERRAILTPVLTDFSVRITGAPAVIFTKVVSPENLHTEEILVCGHSLEVNITTNLDFFLSV
AQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDS
VKIRIVQIEQHSGASQHRIARPSRQSSIVKNLNFIPFDIFITASRISLMTYSCMALSKSK
SQEQKNNEKTDKSSLNLPEVDSDVAKPNQACISTVTAEDLLRSSISFPSGKKIGVLSLES
LHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIF
DAVLKGVASDYKCIDPGKTLPEALDYCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGP
ADVNLDISKPLKANLSFTKLDQINLFLKKIKNAHSLAHSEETSAMSNTMVNKDDLPVSKY
YRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASL
SNLNGSLSVKATQKVPGIILGSSFLLSINDFLLKTSLKERSRILIGPCCATANLEAKWCK
HSGNPGPEQSIPKISIDLRGGLLQVFWGQEHLNCLVLLHELLNGYLNEEGNFEVQVSEPV
PQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWR
YPEPRVLTLVRITPVPFNTTEDPDISTADLGDVLQVPCSLEYWDELQKVFVAFREFNLSE
SKVCELQLPDINLVNDQKKLVSSDLWRIVLNSSQNGADDQSSASESGSQSTCDPLVTPTA
LAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSEL
EYMIVSFREPHMYLRQWNNGSVCQEIQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVS
SDVVEKLLDCTVIVDSVFVNLGQHVVHSLNTAIQAWQQNKCPEVEELVFSHFVICNDTQE
TLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIR
TIQYRGRTASLIIKVQQLNGVQKQIIICGRQIICSYLSQSIELKVVQHYIGQDGQAVVRE
HFDCLTAKQKLPSYILENNELTELCVKAKGDEDWSRDVCLESKAPEYSIVIQVPSSNSSI
IYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQE
KPLQNIEPDLVHHLTFQAREEYDPSDCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPE
KSLQPIWPYNKKDSDRNEQLSQWDSPMRVKLSIWKPYVRTLLIELLPWALLINESKWDLW
LFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGN
GEVVTLDEEAFVDTEIRLGAFPGHQKLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIF
YKPQLSVCNPHSGKEYFRVPDSATFSICPGGEQPAMKSSSLPCWDLMPDISQSVLDASLL
QKQIMLGFSPAPGADSSQCWSLPAIVRPEFPRQSVAVPLGNFRENGFCTRAIVLTYQEHL
GVTYLTLSEDPSPRVIIHNRCPVKMLIKENIKDIPKFEVYCKKIPSECSIHHELYHQISS
YPDCKTKDLLPSLLLRVEPLDEVTTEWSDAIDINSQGTQVVFLTGFGYVYVDVVHQCGTV
FITVAPEGKAGPILTNTNRAPEKIVTFKMFITQLSLAVFDDLTHHKASAELLRLTLDNIF
LCVAPGAGPLPGEEPVAALFELYCVEICCGDLQLDNQLYNKSNFHFAVLVCQGEKAEPIQ
CSKMQSLLISNKELEEYKEKCFIKLCITLNEGKSILCDINEFSFELKPARLYVEDTFVYY
IKTLFDTYLPNSRLAGHSTHLSGGKQVLPMQVTQHARALVNPVKLRKLVIQPVNLLVSIH
ASLKLYIASDHTPLSFSVFERGPIFTTARQLVHALAMHYAAGALFRAGWVVGSLDILGSP
ASLVRSIGNGVADFFRLPYEGLTRGPGAFVSGVSRGTTSFVKHISKGTLTSITNLATSLA
RNMDRLSLDEEHYNRQEEWRRQLPESLGEGLRQGLSRLGISLLGAIAGIVDQPMQNFQKT
SEAQASAGHKAKGVISGVGKGIMGVFTKPIGGAAELVSQTGYGILHGAGLSQLPKQRHQP
SDLHADQAPNSHVKYVWKMLQSLGRPEVHMALDVVLVRGSGQEHEGCLLLTSEVLFVVSV
SEDTQQQAFPVTEIDCAQDSKQNNLLTVQLKQPRVACDVEVDGVRERLSEQQYNRLVDYI
TKTSCHLAPSCSSMQIPCPVVAAEPPPSTVKTYHYLVDPHFAQVFLSKFTMVKNKALRKG
FP

Sequence length

4022

Interactions

View interactions

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)

Show/Hide Causal Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs1057517295	RCV000454258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the eye	Likely pathogenic; Pathogenic	rs140936527, rs748404277	RCV000505106 RCV000504997	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs933746831, rs761736983, rs1833092121	RCV001814211 RCV001814256 RCV001814277	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs1554566596	RCV005901321	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cohen syndrome	Pathogenic; Likely pathogenic	rs1810006084, rs140936527, rs140353201, rs1811379645, rs1816422602, rs2133510569, rs1846848656, rs2132624625, rs2132515671, rs141703746, rs780902262, rs1057517441, rs2132555225, rs2132556766, rs1810518393 View all (723 more)	RCV003820311 RCV002513840 RCV000810563 RCV003606012 RCV001336405 View all (765 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs1563908020	RCV005901751	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs386834119	RCV005890364	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic; Likely pathogenic	rs1469729130, rs1364947213	RCV001003972 RCV001003974	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
High myopia	Pathogenic; Likely pathogenic	rs1469729130, rs1364947213	RCV001003972 RCV001003974	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs766409208	RCV005936601	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs372327659	RCV005901457	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs1810830776, rs1815354949	RCV001252692 RCV001252693	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs1057516840	RCV005900635	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs587777382, rs867112705	RCV005889451 RCV005901474	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1469729130, rs1364947213	RCV001003972 RCV001003974	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic	rs1205613982, rs1830219226, rs777019428	RCV001199600 RCV001199597 RCV001199599	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs755996065	RCV005902087	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VPS13B-related disorder	Likely pathogenic; Pathogenic	rs140353201, rs141703746, rs180177329, rs786204533, rs386834067, rs942483537, rs2490161693, rs886041184, rs886041323, rs146960401, rs1816425634, rs1825747036, rs2492006351, rs765998879, rs145741622 View all (12 more)	RCV003894940 RCV003416298 RCV004742207 RCV004742302 RCV004742304 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (40)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 28	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset severe obesity	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENIERE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, severe congenital, 1, autosomal dominant	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (104)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	33270637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	26165494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	BEFREE	31825161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	32081867, 36153334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23352163, 31495077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25502226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	25502226, 26104215, 35690661, 36153334	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	36780047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32653974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	11857544, 15896657, 24112114, 27669550, 9215679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorioretinal dystrophy	Chorioretinal dystrophy	BEFREE	20656880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorioretinal dystrophy	Chorioretinal dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31495077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cohen syndrome	Cohen Syndrome	BEFREE	12730828, 15141358, 15154116, 15211651, 16648375, 18655112, 19006247, 19190672, 19533689, 20461111, 20656880, 20921020, 21418059, 21605373, 21739578 View all (23 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cohen syndrome	Cohen Syndrome	CLINVAR_DG	12730828, 15141358, 15154116, 15173253, 15691367, 16648375, 16917849, 17786118, 17990063, 19006247, 20461111, 20656880, 20683995, 21659346, 21865173 View all (13 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cohen syndrome	Cohen Syndrome	CTD_human_DG	12730828, 15154116, 17990063		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cohen syndrome	Cohen Syndrome	UNIPROT_DG	12730828, 15141358, 15154116, 15211651, 16648375, 19006247		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cohen syndrome	Cohen syndrome	Pubtator	12730828, 15154116, 16648375, 19190672, 20461111, 20656880, 21865173, 23188044, 25502226, 26104215, 27832746, 28631888, 30925032, 31580008, 31752730 View all (9 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cohen syndrome	Cohen Syndrome	GENOMICS_ENGLAND_DG	20683995, 24311531, 26104215		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cohen syndrome	Cohen Syndrome	ORPHANET_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cohen syndrome	Cohen Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	23188044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	21605373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	24311531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	20656880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	21418059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25502226, 36073289, 37090188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dubowitz syndrome	Dubowitz syndrome	Pubtator	33098347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11477603, 12730828, 15141358, 15498460, 16648375, 17990063, 19006247, 20656880, 21418059, 22382802, 26104215, 9628581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36780047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31825161		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	35690661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	19190672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31495077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21605373, 27832746, 30602132, 31495077		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27832746, 36073289	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	BEFREE	29634382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	29264741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	20656880, 21605373, 27832746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	17151879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33883344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	24311531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21605373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	20656880, 24311531, 27832746		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	27832746, 36073289	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	BEFREE	29634382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11477603, 12730828, 15141358, 15498460, 16648375, 17990063, 19006247, 20656880, 21418059, 22382802, 26104215, 9628581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25502226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	20656880, 21605373, 27832746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	20656880, 27832746, 40358701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24311531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	31218450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	19680589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	31876103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24311531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	30925032, 35690661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	27832746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	30925032, 31580008, 33946315	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	19190672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25863124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25863124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	18043242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23188044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	17151879		★★★★★ ★☆☆☆☆ Found in Text Mining only

VPS13B (vacuolar protein sorting 13 homolog B)