FLCN (folliculin)

Gene

• Entrez ID: 201163
• Gene name: Folliculin
• Gene symbol: FLCN
• Synonyms (NCBI Gene): BHD, DENND8B, FLCL
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splici

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41419545	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs78683075	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs80338682	G>-,GG	Pathogenic	Intron variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs137852929	G>A,C,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs137852930	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs142934950	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, stop gained, missense variant
rs150712346	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs150752548	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs368778627	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs372207262	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant
rs376825814	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, intron variant, synonymous variant, coding sequence variant
rs398124523	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs398124524	G>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs398124525	G>-	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs398124526	->G	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs398124527	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs398124528	T>C,G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs398124529	CTT>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, inframe deletion, coding sequence variant
rs398124530	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs398124532	G>A,C	Pathogenic-likely-pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs398124533	T>C	Pathogenic	Splice acceptor variant
rs398124534	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs398124535	AC>GTG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs398124536	G>A,T	Pathogenic, uncertain-significance, likely-benign	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs398124538	GC>TA	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs398124539	->AC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs398124540	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs398124541	TTCT>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs398124542	->GTACTCTCTGGCAACACAGGGGCTTTCT	Pathogenic	Downstream transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs558699420	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs561236067	G>A,C,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained, intron variant, genic downstream transcript variant
rs587781952	C>A	Pathogenic	Coding sequence variant, downstream transcript variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs587782069	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs727504645	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs748148728	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, intron variant, synonymous variant, genic downstream transcript variant
rs750146811	CGAC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs753009073	->T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs754616167	G>A,T	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs755959303	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs757197845	->AATCTTAT	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs758175953	C>A,G	Likely-pathogenic, pathogenic	Splice donor variant
rs758385503	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs767671406	GGA>-	Pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs776896550	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786202081	C>T	Pathogenic	Splice acceptor variant
rs786202475	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs786202541	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, stop gained
rs786203218	AAG>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, inframe deletion
rs864622651	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant
rs876657646	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs876658390	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs876658409	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant
rs876660611	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878854340	TCTGTAACAAC>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs878854341	G>TC	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs878855212	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878855213	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant
rs878855214	T>C	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs878855217	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs878855218	C>A,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs878855220	A>TCT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878855221	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant
rs879255658	C>G	Pathogenic	Missense variant, initiator codon variant, non coding transcript variant
rs879255660	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs879255661	CT>G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879255662	ACTT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879255663	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs879255664	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs879255666	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879255667	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs879255668	A>C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant
rs879255669	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant
rs879255670	TGAAGACT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs879255672	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs879255673	TCTGCTTTTCCAGATC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs879255675	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant
rs879255676	C>T	Pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs879255677	->GCGGCTGCGTGGACCTC	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs879255678	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs879255679	->ACAG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs879255680	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs879255681	CCT>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe deletion
rs879255682	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs879255683	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs886037608	TCCA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs886037609	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs886037610	GAAGTACTTCAAAAGCTGAC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886039369	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886039370	A>C,G	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886039371	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs886041203	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041478	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs886042033	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs932256543	C>A,T	Pathogenic	Downstream transcript variant, stop gained, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1057518043	GTGTCCTCTTTGGGTCGACTGT>-	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1057518147	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057520528	T>C	Pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1060502367	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1060502368	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1060502369	C>A	Likely-pathogenic	Splice donor variant
rs1060502370	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1060502371	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064792959	ATGATGCTGTACCAGC>CTGAT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1064793127	C>T	Likely-pathogenic, uncertain-significance	Intron variant
rs1064793128	GA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064793766	A>C	Pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1085307478	ATGATGG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1085307771	->GCTG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1131690824	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131690825	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131690826	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1131690827	G>-	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1131690828	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1131690829	->AC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1131690830	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant, non coding transcript variant
rs1131690831	->GTGCC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1131690832	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1131690833	A>G	Likely-pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1131690835	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1131690836	CCCTG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1131690837	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1131690838	C>-	Pathogenic	Frameshift variant, non coding transcript variant, initiator codon variant
rs1131690839	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131690840	C>T	Pathogenic	Splice acceptor variant
rs1131690841	CCCCACA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1135401752	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1254608489	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1266098984	C>A,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained, intron variant
rs1414696397	T>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs1490424623	G>C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs1555607179	TGGTCATCCTCACACCC>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555607212	C>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555607273	C>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555607296	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555607640	->TG	Pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555607651	->C	Pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555607929	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555607960	G>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555608515	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs1555608552	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs1555608614	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs1555608617	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs1555609514	T>C	Pathogenic	Splice acceptor variant
rs1555609899	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555610290	C>T	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1555611377	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555611438	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555611494	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567807238	T>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1567807517	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1567809782	G>-	Pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1567813248	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, downstream transcript variant
rs1567816285	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567816339	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567819544	C>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1567819834	G>T	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1567822638	CCTGGCGG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1597574368	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs1597578776	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1597578868	TT>C	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1597579055	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1597580340	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1597591793	->TCTGTACTCTCTGGCAACACAGGGGCTT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs1597591875	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs1597592246	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs1597606551	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1597607423	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1597612985	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597613070	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597617148	->TCCG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597617757	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597618162	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597618627	GAGAG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026994	hsa-miR-103a-3p	Sequencing	20371350
MIRT031444	hsa-miR-16-5p	Sequencing	20371350
MIRT040311	hsa-miR-615-3p	CLASH	23622248
MIRT518538	hsa-miR-548u	PAR-CLIP	20371350
MIRT518537	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT518536	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT518535	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT518534	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT518533	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT518532	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT031444	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT518531	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT518530	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT518529	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT518528	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT518527	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT518526	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT518525	hsa-miR-653-5p	PAR-CLIP	20371350
MIRT518538	hsa-miR-548u	PAR-CLIP	20371350
MIRT518537	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT518536	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT518535	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT518534	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT518533	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT518532	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT031444	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT518531	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT518530	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT518529	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT518528	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT518527	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT518526	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT518525	hsa-miR-653-5p	PAR-CLIP	20371350
MIRT518538	hsa-miR-548u	PAR-CLIP	21572407
MIRT518537	hsa-miR-7161-5p	PAR-CLIP	21572407
MIRT518536	hsa-miR-409-3p	PAR-CLIP	21572407
MIRT518535	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT518534	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT518533	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT518532	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031444	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT518531	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT518530	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT518529	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT518528	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT518527	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT518526	hsa-miR-488-3p	PAR-CLIP	21572407
MIRT518525	hsa-miR-653-5p	PAR-CLIP	21572407
MIRT518538	hsa-miR-548u	PAR-CLIP	23446348
MIRT518537	hsa-miR-7161-5p	PAR-CLIP	23446348
MIRT518536	hsa-miR-409-3p	PAR-CLIP	23446348
MIRT518535	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT518534	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT518533	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT518532	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031444	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT518531	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT518530	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT518529	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT518528	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT518527	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT518526	hsa-miR-488-3p	PAR-CLIP	23446348
MIRT518525	hsa-miR-653-5p	PAR-CLIP	23446348
MIRT460312	hsa-miR-8485	PAR-CLIP	23592263
MIRT460311	hsa-miR-205-3p	PAR-CLIP	23592263
MIRT460310	hsa-miR-6847-5p	PAR-CLIP	23592263
MIRT460309	hsa-miR-4257	PAR-CLIP	23592263
MIRT460308	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT460307	hsa-miR-4751	PAR-CLIP	23592263
MIRT460306	hsa-miR-6077	PAR-CLIP	23592263
MIRT460305	hsa-miR-4436b-5p	PAR-CLIP	23592263
MIRT460304	hsa-miR-3915	PAR-CLIP	23592263
MIRT460303	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT460309	hsa-miR-4257	PAR-CLIP	27292025
MIRT518538	hsa-miR-548u	PAR-CLIP	20371350
MIRT518537	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT518536	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT518535	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT518534	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT518533	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT518532	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT031444	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT518531	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT518530	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT518529	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT518528	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT518527	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT518526	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT518525	hsa-miR-653-5p	PAR-CLIP	20371350
MIRT518538	hsa-miR-548u	PAR-CLIP	20371350
MIRT518537	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT518536	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT518535	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT518534	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT518533	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT518532	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT031444	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT518531	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT518530	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT518529	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT518528	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT518527	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT518526	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT518525	hsa-miR-653-5p	PAR-CLIP	20371350
MIRT518538	hsa-miR-548u	PAR-CLIP	21572407
MIRT518537	hsa-miR-7161-5p	PAR-CLIP	21572407
MIRT518536	hsa-miR-409-3p	PAR-CLIP	21572407
MIRT518535	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT518534	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT518533	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT518532	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031444	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT518531	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT518530	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT518529	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT518528	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT518527	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT518526	hsa-miR-488-3p	PAR-CLIP	21572407
MIRT518525	hsa-miR-653-5p	PAR-CLIP	21572407
MIRT518538	hsa-miR-548u	PAR-CLIP	23446348
MIRT518537	hsa-miR-7161-5p	PAR-CLIP	23446348
MIRT518536	hsa-miR-409-3p	PAR-CLIP	23446348
MIRT518535	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT518534	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT518533	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT518532	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031444	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT518531	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT518530	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT518529	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT518528	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT518527	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT518526	hsa-miR-488-3p	PAR-CLIP	23446348
MIRT518525	hsa-miR-653-5p	PAR-CLIP	23446348
MIRT460312	hsa-miR-8485	PAR-CLIP	23592263
MIRT460311	hsa-miR-205-3p	PAR-CLIP	23592263
MIRT460310	hsa-miR-6847-5p	PAR-CLIP	23592263
MIRT460309	hsa-miR-4257	PAR-CLIP	23592263
MIRT460308	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT460307	hsa-miR-4751	PAR-CLIP	23592263
MIRT460306	hsa-miR-6077	PAR-CLIP	23592263
MIRT460305	hsa-miR-4436b-5p	PAR-CLIP	23592263
MIRT460304	hsa-miR-3915	PAR-CLIP	23592263
MIRT460303	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT998188	hsa-miR-103a	CLIP-seq
MIRT998189	hsa-miR-107	CLIP-seq
MIRT998190	hsa-miR-1184	CLIP-seq
MIRT998191	hsa-miR-1285	CLIP-seq
MIRT998192	hsa-miR-1293	CLIP-seq
MIRT998193	hsa-miR-135a	CLIP-seq
MIRT998194	hsa-miR-135b	CLIP-seq
MIRT998195	hsa-miR-15a	CLIP-seq
MIRT998196	hsa-miR-15b	CLIP-seq
MIRT998197	hsa-miR-16	CLIP-seq
MIRT998198	hsa-miR-1908	CLIP-seq
MIRT998199	hsa-miR-195	CLIP-seq
MIRT998200	hsa-miR-2054	CLIP-seq
MIRT998201	hsa-miR-25	CLIP-seq
MIRT998202	hsa-miR-2682	CLIP-seq
MIRT998203	hsa-miR-2964a-3p	CLIP-seq
MIRT998204	hsa-miR-3122	CLIP-seq
MIRT998205	hsa-miR-3165	CLIP-seq
MIRT998206	hsa-miR-3187-5p	CLIP-seq
MIRT998207	hsa-miR-32	CLIP-seq
MIRT998208	hsa-miR-3622a-3p	CLIP-seq
MIRT998209	hsa-miR-3622b-3p	CLIP-seq
MIRT998210	hsa-miR-363	CLIP-seq
MIRT998211	hsa-miR-3650	CLIP-seq
MIRT998212	hsa-miR-3664-5p	CLIP-seq
MIRT998213	hsa-miR-3665	CLIP-seq
MIRT998214	hsa-miR-367	CLIP-seq
MIRT998215	hsa-miR-3672	CLIP-seq
MIRT998216	hsa-miR-3677-5p	CLIP-seq
MIRT998217	hsa-miR-3689a-3p	CLIP-seq
MIRT998218	hsa-miR-3689c	CLIP-seq
MIRT998219	hsa-miR-371-5p	CLIP-seq
MIRT998220	hsa-miR-3913-5p	CLIP-seq
MIRT998221	hsa-miR-3921	CLIP-seq
MIRT998222	hsa-miR-3929	CLIP-seq
MIRT998223	hsa-miR-3934	CLIP-seq
MIRT998224	hsa-miR-3940-3p	CLIP-seq
MIRT998225	hsa-miR-3945	CLIP-seq
MIRT998226	hsa-miR-424	CLIP-seq
MIRT998227	hsa-miR-4253	CLIP-seq
MIRT998228	hsa-miR-4267	CLIP-seq
MIRT998229	hsa-miR-4303	CLIP-seq
MIRT998230	hsa-miR-4418	CLIP-seq
MIRT998231	hsa-miR-4419b	CLIP-seq
MIRT998232	hsa-miR-4423-3p	CLIP-seq
MIRT998233	hsa-miR-4427	CLIP-seq
MIRT998234	hsa-miR-4433	CLIP-seq
MIRT998235	hsa-miR-4443	CLIP-seq
MIRT998236	hsa-miR-4477a	CLIP-seq
MIRT998237	hsa-miR-4478	CLIP-seq
MIRT998238	hsa-miR-4483	CLIP-seq
MIRT998239	hsa-miR-449c	CLIP-seq
MIRT998240	hsa-miR-4649-3p	CLIP-seq
MIRT998241	hsa-miR-4653-5p	CLIP-seq
MIRT998242	hsa-miR-4668-3p	CLIP-seq
MIRT998243	hsa-miR-4703-3p	CLIP-seq
MIRT998244	hsa-miR-4714-5p	CLIP-seq
MIRT998245	hsa-miR-4724-5p	CLIP-seq
MIRT998246	hsa-miR-4728-5p	CLIP-seq
MIRT998247	hsa-miR-4736	CLIP-seq
MIRT998248	hsa-miR-4753-5p	CLIP-seq
MIRT998249	hsa-miR-4786-5p	CLIP-seq
MIRT998250	hsa-miR-4803	CLIP-seq
MIRT998251	hsa-miR-485-5p	CLIP-seq
MIRT998252	hsa-miR-488	CLIP-seq
MIRT998253	hsa-miR-497	CLIP-seq
MIRT998254	hsa-miR-500a	CLIP-seq
MIRT998255	hsa-miR-509-3-5p	CLIP-seq
MIRT998256	hsa-miR-509-5p	CLIP-seq
MIRT998257	hsa-miR-513b	CLIP-seq
MIRT998258	hsa-miR-516b	CLIP-seq
MIRT998259	hsa-miR-544b	CLIP-seq
MIRT998260	hsa-miR-545	CLIP-seq
MIRT998261	hsa-miR-548c-3p	CLIP-seq
MIRT998262	hsa-miR-548m	CLIP-seq
MIRT998263	hsa-miR-548p	CLIP-seq
MIRT998264	hsa-miR-605	CLIP-seq
MIRT998265	hsa-miR-612	CLIP-seq
MIRT998266	hsa-miR-642a	CLIP-seq
MIRT998267	hsa-miR-653	CLIP-seq
MIRT998268	hsa-miR-661	CLIP-seq
MIRT998269	hsa-miR-663	CLIP-seq
MIRT998270	hsa-miR-766	CLIP-seq
MIRT998271	hsa-miR-769-5p	CLIP-seq
MIRT998272	hsa-miR-92a	CLIP-seq
MIRT998273	hsa-miR-92b	CLIP-seq
MIRT998203	hsa-miR-2964a-3p	CLIP-seq
MIRT998192	hsa-miR-1293	CLIP-seq
MIRT1995885	hsa-miR-137	CLIP-seq
MIRT998203	hsa-miR-2964a-3p	CLIP-seq
MIRT998204	hsa-miR-3122	CLIP-seq
MIRT998205	hsa-miR-3165	CLIP-seq
MIRT1995886	hsa-miR-3166	CLIP-seq
MIRT998208	hsa-miR-3622a-3p	CLIP-seq
MIRT998209	hsa-miR-3622b-3p	CLIP-seq
MIRT998215	hsa-miR-3672	CLIP-seq
MIRT998217	hsa-miR-3689a-3p	CLIP-seq
MIRT998218	hsa-miR-3689c	CLIP-seq
MIRT998220	hsa-miR-3913-5p	CLIP-seq
MIRT998222	hsa-miR-3929	CLIP-seq
MIRT998224	hsa-miR-3940-3p	CLIP-seq
MIRT998231	hsa-miR-4419b	CLIP-seq
MIRT998234	hsa-miR-4433	CLIP-seq
MIRT1995887	hsa-miR-4468	CLIP-seq
MIRT998237	hsa-miR-4478	CLIP-seq
MIRT998238	hsa-miR-4483	CLIP-seq
MIRT998240	hsa-miR-4649-3p	CLIP-seq
MIRT998246	hsa-miR-4728-5p	CLIP-seq
MIRT998249	hsa-miR-4786-5p	CLIP-seq
MIRT998251	hsa-miR-485-5p	CLIP-seq
MIRT998259	hsa-miR-544b	CLIP-seq
MIRT998260	hsa-miR-545	CLIP-seq
MIRT998263	hsa-miR-548p	CLIP-seq
MIRT998271	hsa-miR-769-5p	CLIP-seq
MIRT998188	hsa-miR-103a	CLIP-seq
MIRT998189	hsa-miR-107	CLIP-seq
MIRT998190	hsa-miR-1184	CLIP-seq
MIRT2229840	hsa-miR-1225-3p	CLIP-seq
MIRT2229841	hsa-miR-1226	CLIP-seq
MIRT2229842	hsa-miR-1254	CLIP-seq
MIRT2229843	hsa-miR-128	CLIP-seq
MIRT2229844	hsa-miR-1288	CLIP-seq
MIRT998192	hsa-miR-1293	CLIP-seq
MIRT998193	hsa-miR-135a	CLIP-seq
MIRT998194	hsa-miR-135b	CLIP-seq
MIRT2229845	hsa-miR-1539	CLIP-seq
MIRT2229846	hsa-miR-1914	CLIP-seq
MIRT2229847	hsa-miR-197	CLIP-seq
MIRT2229848	hsa-miR-1976	CLIP-seq
MIRT2229849	hsa-miR-2052	CLIP-seq
MIRT998200	hsa-miR-2054	CLIP-seq
MIRT2229850	hsa-miR-24	CLIP-seq
MIRT998201	hsa-miR-25	CLIP-seq
MIRT998202	hsa-miR-2682	CLIP-seq
MIRT998203	hsa-miR-2964a-3p	CLIP-seq
MIRT2229851	hsa-miR-3065-3p	CLIP-seq
MIRT2229852	hsa-miR-3116	CLIP-seq
MIRT998204	hsa-miR-3122	CLIP-seq
MIRT2229853	hsa-miR-3135b	CLIP-seq
MIRT2229854	hsa-miR-3137	CLIP-seq
MIRT2229855	hsa-miR-3138	CLIP-seq
MIRT998205	hsa-miR-3165	CLIP-seq
MIRT2229856	hsa-miR-3189-5p	CLIP-seq
MIRT2229857	hsa-miR-3193	CLIP-seq
MIRT998207	hsa-miR-32	CLIP-seq
MIRT2229858	hsa-miR-338-3p	CLIP-seq
MIRT2229859	hsa-miR-339-5p	CLIP-seq
MIRT2229860	hsa-miR-3545-3p	CLIP-seq
MIRT2229861	hsa-miR-3621	CLIP-seq
MIRT998208	hsa-miR-3622a-3p	CLIP-seq
MIRT998209	hsa-miR-3622b-3p	CLIP-seq
MIRT998210	hsa-miR-363	CLIP-seq
MIRT998211	hsa-miR-3650	CLIP-seq
MIRT2229862	hsa-miR-3652	CLIP-seq
MIRT2229863	hsa-miR-3656	CLIP-seq
MIRT2229864	hsa-miR-3662	CLIP-seq
MIRT2229865	hsa-miR-3664-3p	CLIP-seq
MIRT998212	hsa-miR-3664-5p	CLIP-seq
MIRT998213	hsa-miR-3665	CLIP-seq
MIRT2229866	hsa-miR-3667-3p	CLIP-seq
MIRT998214	hsa-miR-367	CLIP-seq
MIRT998215	hsa-miR-3672	CLIP-seq
MIRT998217	hsa-miR-3689a-3p	CLIP-seq
MIRT998218	hsa-miR-3689c	CLIP-seq
MIRT2229867	hsa-miR-3690	CLIP-seq
MIRT998219	hsa-miR-371-5p	CLIP-seq
MIRT2229868	hsa-miR-383	CLIP-seq
MIRT998220	hsa-miR-3913-5p	CLIP-seq
MIRT998222	hsa-miR-3929	CLIP-seq
MIRT998223	hsa-miR-3934	CLIP-seq
MIRT998224	hsa-miR-3940-3p	CLIP-seq
MIRT2229869	hsa-miR-409-5p	CLIP-seq
MIRT2229870	hsa-miR-412	CLIP-seq
MIRT2229871	hsa-miR-4270	CLIP-seq
MIRT2229872	hsa-miR-4279	CLIP-seq
MIRT2229873	hsa-miR-4323	CLIP-seq
MIRT998230	hsa-miR-4418	CLIP-seq
MIRT998231	hsa-miR-4419b	CLIP-seq
MIRT2229874	hsa-miR-4421	CLIP-seq
MIRT998232	hsa-miR-4423-3p	CLIP-seq
MIRT2229875	hsa-miR-4430	CLIP-seq
MIRT998234	hsa-miR-4433	CLIP-seq
MIRT2229876	hsa-miR-4441	CLIP-seq
MIRT998235	hsa-miR-4443	CLIP-seq
MIRT2229877	hsa-miR-4447	CLIP-seq
MIRT2229878	hsa-miR-4448	CLIP-seq
MIRT2229879	hsa-miR-4472	CLIP-seq
MIRT998237	hsa-miR-4478	CLIP-seq
MIRT998238	hsa-miR-4483	CLIP-seq
MIRT2229880	hsa-miR-4492	CLIP-seq
MIRT2229881	hsa-miR-4498	CLIP-seq
MIRT998239	hsa-miR-449c	CLIP-seq
MIRT2229882	hsa-miR-4508	CLIP-seq
MIRT2229883	hsa-miR-4520a-3p	CLIP-seq
MIRT2229884	hsa-miR-4530	CLIP-seq
MIRT998240	hsa-miR-4649-3p	CLIP-seq
MIRT2229885	hsa-miR-4661-3p	CLIP-seq
MIRT998242	hsa-miR-4668-3p	CLIP-seq
MIRT2229886	hsa-miR-4680-5p	CLIP-seq
MIRT998244	hsa-miR-4714-5p	CLIP-seq
MIRT2229887	hsa-miR-4724-3p	CLIP-seq
MIRT2229888	hsa-miR-4726-3p	CLIP-seq
MIRT2229889	hsa-miR-4727-3p	CLIP-seq
MIRT998246	hsa-miR-4728-5p	CLIP-seq
MIRT2229890	hsa-miR-4733-3p	CLIP-seq
MIRT2229891	hsa-miR-4734	CLIP-seq
MIRT998247	hsa-miR-4736	CLIP-seq
MIRT2229892	hsa-miR-4772-5p	CLIP-seq
MIRT2229893	hsa-miR-4785	CLIP-seq
MIRT998249	hsa-miR-4786-5p	CLIP-seq
MIRT2229894	hsa-miR-4800-5p	CLIP-seq
MIRT998250	hsa-miR-4803	CLIP-seq
MIRT998251	hsa-miR-485-5p	CLIP-seq
MIRT2229895	hsa-miR-492	CLIP-seq
MIRT998255	hsa-miR-509-3-5p	CLIP-seq
MIRT998256	hsa-miR-509-5p	CLIP-seq
MIRT2229896	hsa-miR-510	CLIP-seq
MIRT2229897	hsa-miR-511	CLIP-seq
MIRT998258	hsa-miR-516b	CLIP-seq
MIRT2229898	hsa-miR-539	CLIP-seq
MIRT998259	hsa-miR-544b	CLIP-seq
MIRT998260	hsa-miR-545	CLIP-seq
MIRT998262	hsa-miR-548m	CLIP-seq
MIRT998263	hsa-miR-548p	CLIP-seq
MIRT2229899	hsa-miR-580	CLIP-seq
MIRT2229900	hsa-miR-627	CLIP-seq
MIRT2229901	hsa-miR-634	CLIP-seq
MIRT998266	hsa-miR-642a	CLIP-seq
MIRT998268	hsa-miR-661	CLIP-seq
MIRT2229902	hsa-miR-762	CLIP-seq
MIRT2229903	hsa-miR-765	CLIP-seq
MIRT998271	hsa-miR-769-5p	CLIP-seq
MIRT2229904	hsa-miR-924	CLIP-seq
MIRT998272	hsa-miR-92a	CLIP-seq
MIRT998273	hsa-miR-92b	CLIP-seq
MIRT998203	hsa-miR-2964a-3p	CLIP-seq
MIRT998215	hsa-miR-3672	CLIP-seq
MIRT998222	hsa-miR-3929	CLIP-seq
MIRT998224	hsa-miR-3940-3p	CLIP-seq
MIRT998231	hsa-miR-4419b	CLIP-seq
MIRT998234	hsa-miR-4433	CLIP-seq
MIRT998235	hsa-miR-4443	CLIP-seq
MIRT998237	hsa-miR-4478	CLIP-seq
MIRT998240	hsa-miR-4649-3p	CLIP-seq
MIRT998249	hsa-miR-4786-5p	CLIP-seq
MIRT998251	hsa-miR-485-5p	CLIP-seq
MIRT998258	hsa-miR-516b	CLIP-seq
MIRT998271	hsa-miR-769-5p	CLIP-seq
MIRT998191	hsa-miR-1285	CLIP-seq
MIRT998206	hsa-miR-3187-5p	CLIP-seq
MIRT998225	hsa-miR-3945	CLIP-seq
MIRT998227	hsa-miR-4253	CLIP-seq
MIRT2449749	hsa-miR-4684-5p	CLIP-seq
MIRT2449750	hsa-miR-515-5p	CLIP-seq
MIRT998265	hsa-miR-612	CLIP-seq
MIRT998191	hsa-miR-1285	CLIP-seq
MIRT998206	hsa-miR-3187-5p	CLIP-seq
MIRT2449749	hsa-miR-4684-5p	CLIP-seq
MIRT2449750	hsa-miR-515-5p	CLIP-seq
MIRT998265	hsa-miR-612	CLIP-seq
MIRT998191	hsa-miR-1285	CLIP-seq
MIRT998192	hsa-miR-1293	CLIP-seq
MIRT998195	hsa-miR-15a	CLIP-seq
MIRT998196	hsa-miR-15b	CLIP-seq
MIRT998197	hsa-miR-16	CLIP-seq
MIRT998199	hsa-miR-195	CLIP-seq
MIRT998200	hsa-miR-2054	CLIP-seq
MIRT998201	hsa-miR-25	CLIP-seq
MIRT998203	hsa-miR-2964a-3p	CLIP-seq
MIRT998204	hsa-miR-3122	CLIP-seq
MIRT998205	hsa-miR-3165	CLIP-seq
MIRT998206	hsa-miR-3187-5p	CLIP-seq
MIRT998207	hsa-miR-32	CLIP-seq
MIRT2533810	hsa-miR-3613-3p	CLIP-seq
MIRT998208	hsa-miR-3622a-3p	CLIP-seq
MIRT998209	hsa-miR-3622b-3p	CLIP-seq
MIRT998210	hsa-miR-363	CLIP-seq
MIRT998212	hsa-miR-3664-5p	CLIP-seq
MIRT998214	hsa-miR-367	CLIP-seq
MIRT998215	hsa-miR-3672	CLIP-seq
MIRT998217	hsa-miR-3689a-3p	CLIP-seq
MIRT998218	hsa-miR-3689c	CLIP-seq
MIRT998219	hsa-miR-371-5p	CLIP-seq
MIRT2533811	hsa-miR-371b-5p	CLIP-seq
MIRT998220	hsa-miR-3913-5p	CLIP-seq
MIRT998222	hsa-miR-3929	CLIP-seq
MIRT998224	hsa-miR-3940-3p	CLIP-seq
MIRT998225	hsa-miR-3945	CLIP-seq
MIRT2533812	hsa-miR-410	CLIP-seq
MIRT998226	hsa-miR-424	CLIP-seq
MIRT998227	hsa-miR-4253	CLIP-seq
MIRT998228	hsa-miR-4267	CLIP-seq
MIRT998231	hsa-miR-4419b	CLIP-seq
MIRT2533813	hsa-miR-4422	CLIP-seq
MIRT998234	hsa-miR-4433	CLIP-seq
MIRT998235	hsa-miR-4443	CLIP-seq
MIRT2533814	hsa-miR-4469	CLIP-seq
MIRT998237	hsa-miR-4478	CLIP-seq
MIRT998238	hsa-miR-4483	CLIP-seq
MIRT998240	hsa-miR-4649-3p	CLIP-seq
MIRT2533815	hsa-miR-4654	CLIP-seq
MIRT2449749	hsa-miR-4684-5p	CLIP-seq
MIRT998243	hsa-miR-4703-3p	CLIP-seq
MIRT998244	hsa-miR-4714-5p	CLIP-seq
MIRT998246	hsa-miR-4728-5p	CLIP-seq
MIRT2533816	hsa-miR-4738-3p	CLIP-seq
MIRT2533817	hsa-miR-4769-5p	CLIP-seq
MIRT998249	hsa-miR-4786-5p	CLIP-seq
MIRT998251	hsa-miR-485-5p	CLIP-seq
MIRT998252	hsa-miR-488	CLIP-seq
MIRT998253	hsa-miR-497	CLIP-seq
MIRT998258	hsa-miR-516b	CLIP-seq
MIRT998259	hsa-miR-544b	CLIP-seq
MIRT2533818	hsa-miR-548k	CLIP-seq
MIRT2533819	hsa-miR-548n	CLIP-seq
MIRT998265	hsa-miR-612	CLIP-seq
MIRT998266	hsa-miR-642a	CLIP-seq
MIRT998267	hsa-miR-653	CLIP-seq
MIRT998268	hsa-miR-661	CLIP-seq
MIRT998270	hsa-miR-766	CLIP-seq
MIRT998271	hsa-miR-769-5p	CLIP-seq
MIRT998272	hsa-miR-92a	CLIP-seq
MIRT998273	hsa-miR-92b	CLIP-seq
MIRT998191	hsa-miR-1285	CLIP-seq
MIRT998192	hsa-miR-1293	CLIP-seq
MIRT998200	hsa-miR-2054	CLIP-seq
MIRT998203	hsa-miR-2964a-3p	CLIP-seq
MIRT998204	hsa-miR-3122	CLIP-seq
MIRT998205	hsa-miR-3165	CLIP-seq
MIRT998206	hsa-miR-3187-5p	CLIP-seq
MIRT998208	hsa-miR-3622a-3p	CLIP-seq
MIRT998209	hsa-miR-3622b-3p	CLIP-seq
MIRT998212	hsa-miR-3664-5p	CLIP-seq
MIRT998215	hsa-miR-3672	CLIP-seq
MIRT998217	hsa-miR-3689a-3p	CLIP-seq
MIRT998218	hsa-miR-3689c	CLIP-seq
MIRT998220	hsa-miR-3913-5p	CLIP-seq
MIRT998222	hsa-miR-3929	CLIP-seq
MIRT998224	hsa-miR-3940-3p	CLIP-seq
MIRT998225	hsa-miR-3945	CLIP-seq
MIRT998227	hsa-miR-4253	CLIP-seq
MIRT998228	hsa-miR-4267	CLIP-seq
MIRT998231	hsa-miR-4419b	CLIP-seq
MIRT998234	hsa-miR-4433	CLIP-seq
MIRT998235	hsa-miR-4443	CLIP-seq
MIRT998237	hsa-miR-4478	CLIP-seq
MIRT998238	hsa-miR-4483	CLIP-seq
MIRT998240	hsa-miR-4649-3p	CLIP-seq
MIRT2449749	hsa-miR-4684-5p	CLIP-seq
MIRT998243	hsa-miR-4703-3p	CLIP-seq
MIRT998244	hsa-miR-4714-5p	CLIP-seq
MIRT998246	hsa-miR-4728-5p	CLIP-seq
MIRT998249	hsa-miR-4786-5p	CLIP-seq
MIRT998251	hsa-miR-485-5p	CLIP-seq
MIRT998258	hsa-miR-516b	CLIP-seq
MIRT998259	hsa-miR-544b	CLIP-seq
MIRT998265	hsa-miR-612	CLIP-seq
MIRT998271	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	21209915
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0004857	Function	Enzyme inhibitor activity	IDA	34381247
GO:0005096	Function	GTPase activator activity	IDA	24095279, 31672913, 31704029, 32612235, 36103527, 37079666
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	17028174, 18403135, 18663353, 22965878, 25126726, 27113757, 27353360
GO:0005634	Component	Nucleus	IDA	17028174, 18663353
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	17028174, 18663353, 22965878
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	TAS	25126726
GO:0005765	Component	Lysosomal membrane	IDA	24081491, 24095279, 27113757, 29848618, 31672913
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005813	Component	Centrosome	IDA	23784378
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	24081491, 24095279, 29848618, 31672913
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA	23784378
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS	25126726
GO:0007040	Process	Lysosome organization	IDA	24448649, 35662396
GO:0007043	Process	Cell-cell junction assembly	IEA
GO:0007043	Process	Cell-cell junction assembly	ISS
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009267	Process	Cellular response to starvation	IDA	24095279, 31672913
GO:0010508	Process	Positive regulation of autophagy	IDA	25126726
GO:0010508	Process	Positive regulation of autophagy	IMP	25126726
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	34381247
GO:0030097	Process	Hemopoiesis	IEA
GO:0030097	Process	Hemopoiesis	ISS
GO:0030496	Component	Midbody	IDA	22965878
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IBA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	36608670
GO:0031648	Process	Protein destabilization	IDA	36608670
GO:0031669	Process	Cellular response to nutrient levels	IDA	29750193, 31601708
GO:0031929	Process	TOR signaling	IEA
GO:0032006	Process	Regulation of TOR signaling	IEA
GO:0032006	Process	Regulation of TOR signaling	ISS
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0032007	Process	Negative regulation of TOR signaling	ISS
GO:0032008	Process	Positive regulation of TOR signaling	IDA	24081491, 24095279, 31672913, 31704029
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032008	Process	Positive regulation of TOR signaling	ISS
GO:0032418	Process	Lysosome localization	IDA	27113757
GO:0034198	Process	Cellular response to amino acid starvation	IDA	24095279, 27113757, 31672913
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IMP	22965878
GO:0035556	Process	Intracellular signal transduction	IDA	21209915
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038202	Process	TORC1 signaling	IDA	32612235, 36608670
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0044291	Component	Cell-cell contact zone	IDA	22965878
GO:0044877	Function	Protein-containing complex binding	IDA	17028174
GO:0045820	Process	Negative regulation of glycolytic process	IDA	34381247
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046578	Process	Regulation of Ras protein signal transduction	IDA	24081491, 24095279, 31672913, 31704029
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	ISS
GO:0072111	Process	Cell proliferation involved in kidney development	IEA
GO:0072686	Component	Mitotic spindle	IDA	23784378
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	ISS
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	27151976
GO:1900181	Process	Negative regulation of protein localization to nucleus	IDA	32612235, 35662396
GO:1901723	Process	Negative regulation of cell proliferation involved in kidney development	IEA
GO:1901723	Process	Negative regulation of cell proliferation involved in kidney development	ISS
GO:1901874	Process	Negative regulation of post-translational protein modification	IEA
GO:1902532	Process	Negative regulation of intracellular signal transduction	IEA
GO:1903444	Process	Negative regulation of brown fat cell differentiation	IEA
GO:1903444	Process	Negative regulation of brown fat cell differentiation	ISS
GO:1904263	Process	Positive regulation of TORC1 signaling	IBA
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	31601708, 36608670
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	32612235, 36103527, 37079666
GO:1905672	Process	Negative regulation of lysosome organization	IDA	37079666
GO:1990877	Component	FNIP-folliculin RagC/D GAP	IDA	32612235, 36103527
GO:2000973	Process	Regulation of pro-B cell differentiation	IEA
GO:2000973	Process	Regulation of pro-B cell differentiation	ISS
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 607273
• HGNC: 27310
• e!Ensembl: ENSG00000154803

Protein

• UniProt ID: Q8NFG4
• Protein name: Folliculin (BHD skin lesion fibrofolliculoma protein) (Birt-Hogg-Dube syndrome protein)
• Protein function: Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis (PubMed:17028174, PubMed:18663353, PubMed:21209915, PubMed:24081491, PubMed:24095279, PubMed:31672913, PubMed:3170402
• PDB: 3V42, 6NZD, 6ULG, 8DHB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11704	Folliculin	104 → 265	Vesicle coat protein involved in Golgi to plasma membrane transport	Family
  PF16692	Folliculin_C	344 → 566	Folliculin C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach. {ECO:0000269|PubMed:12204536}.
• Sequence:

  MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQAEEEEGGIQMNSRMRA
  HSPAEGASVESSSPGPKKSDMCEGCRSLAAGHPGYISHDKETSIKYVSHQHPSHPQLFSI
  VRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKDSLARGFQRWYSIITIMMDRI
  YLINSWPFLLGKVRGIIDELQGKALKVFEAEQFGCPQRAQRMNTAFTPFLHQRNGNAARS
  LTSLTSDDNLWACLHTSFAWLLKACGSRLTEKLLEGAPTEDTLVQMEKLADLEEESESWD
  NSEAEEEEKAPVLPESTEGRELTQGPAESSSLSGCGSWQPRKLPVFKSLRHMRQVLGAPS
  FRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGL
  SPHVQIPPHVLSSEFAVIVEVHAAARSTLHPVGCEDDQSLSKYEFVVTSGSPVAADRVGP
  TILNKIEAALTNQNLSVDVVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILG
  ASEEDNVKLLKFWMTGLSKTYKSHLMSTVRSPTASESRN

• Sequence length: 579

Pathways

KEGG:

mTOR signaling pathway
Renal cell carcinoma

Reactome:

Amino acids regulate mTORC1

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
17p11.2 microduplication syndrome	Likely pathogenic; Pathogenic	rs398124530, rs587782069, rs80338682, rs786203218, rs758175953, rs879255678, rs886039370, rs1131690833, rs1131690841, rs758385503	RCV002505009 RCV002498642 RCV002490302 RCV002498825 RCV000762981 RCV000762980 RCV002479990 RCV002496889 RCV002481559 RCV001197006	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Birt-Hogg-Dube syndrome	Pathogenic; Likely pathogenic	rs398124523, rs398124524, rs398124525, rs398124526, rs398124527, rs398124528, rs398124529, rs398124530, rs398124533, rs398124534, rs398124535, rs398124536, rs398124538, rs398124539, rs398124541, rs398124542, rs2144810362, rs2144832772, rs2046880504, rs2144839089, rs2144869206, rs2144895051, rs2144931929, rs2144932834, rs1185698194, rs2544254526, rs2144983515, rs2047242821, rs2145012125, rs2145012275, rs2145049426, rs2144831005, rs2145014205, rs2145010446, rs2144896021, rs2145009900, rs2145048688, rs2145010299, rs2144810189, rs2144869904, rs2144948439, rs1555607929, rs2144869487, rs2144840088, rs2144894376, rs2144857383, rs755959303, rs879255676, rs2144933364, rs2144979340, rs2144858986, rs2145050572, rs2144871276, rs2144947980, rs2144897537, rs587781952, rs587782069, rs2544172442, rs2544192943, rs368778627, rs727504645, rs1555608617, rs2544250574, rs2544143046, rs2544124546, rs80338682, rs137852929, rs750146811, rs886037608, rs886037609, rs878854340, rs786202541, rs786203218, rs786202081, rs2544284444, rs2544149417, rs2544193930, rs2544315808, rs2544163066, rs2544145845, rs2544312685, rs2544254219, rs2544142899, rs2544307013, rs864622651, rs767671406, rs876660810, rs758175953, rs876658409, rs876660611, rs876658390, rs1225988242, rs2544161279, rs878855214, rs878855213, rs878855221, rs878855220, rs878855218, rs878855217, rs776896550, rs878855212, rs878854341, rs879255684, rs753009073, rs879255683, rs879255682, rs879255681, rs879255680, rs879255679, rs879255678, rs879255677, rs879255675, rs879255673, rs879255672, rs879255670, rs879255669, rs879255668, rs879255667, rs879255666, rs879255663, rs879255662, rs558699420, rs879255661, rs879255660, rs879255658, rs886039370, rs886039369, rs886041203, rs2144971536, rs2544234869, rs2544193597, rs2544221196, rs1555611438, rs2544194010, rs2544311138, rs763591386, rs2544161792, rs1064793766, rs1471793185, rs2544141440, rs2544140967, rs2046866025, rs2046823775, rs2544126103, rs2544309625, rs2544125336, rs1439151268, rs2544307146, rs2544308289, rs2544307799, rs137852930, rs773946854, rs2145011802, rs2544280718, rs2544258787, rs2544258886, rs2544174399, rs2144983543, rs2544258719, rs2144981510, rs2544251980, rs2544250959, rs768734584, rs2544231720, rs2544219810, rs2144931222, rs1490424623, rs757111995, rs2544196807, rs2544196508, rs2544196484, rs2544194629, rs2544194280, rs2544231997, rs2544145930, rs2544313773, rs2144930944, rs2544284250, rs2544147093, rs2544161026, rs2544145738, rs2544219637, rs2544304367, rs1060502369, rs2544160911, rs2544314814, rs2544143033, rs2144981673, rs2544311791, rs2544251913, rs2046948026, rs2544219177, rs2544197060, rs2544148536, rs1057518043, rs1555608614, rs561236067, rs1057520528, rs1060502368, rs1060502371, rs1060502370, rs1064792959, rs1064793128, rs1064793127, rs1085307478, rs1131690833, rs1131690827, rs1131690841, rs1131690837, rs1131690831, rs1131690832, rs1131690830, rs932256543, rs1060502367, rs1131690826, rs1131690840, rs1131690825, rs754616167, rs758385503, rs1135401752, rs1555607296, rs1555609514, rs1555609899, rs1555611494, rs1555608552, rs757197845, rs1555607640, rs1555607960, rs1266098984, rs1555607273, rs1555608515, rs1555607179, rs1555607212, rs1555611377, rs1567819544, rs1567807238, rs1567822638, rs1254608489, rs1567819834, rs1567816285, rs1567809782, rs1567813248, rs1567816339, rs1567807517, rs1597574088, rs1597579055, rs1597580340, rs1597591875, rs1597592246, rs1597606551, rs1597612985, rs1597617148, rs1597617757, rs1414696397, rs1597618162, rs1597574368, rs2046877798, rs2047006361, rs2047092163, rs2047123162, rs2047175695, rs2047181267, rs2047248214, rs2047302808, rs2047014823, rs2046947920, rs2046950183, rs2047172274, rs1567808098, rs2047316806, rs2046884079	RCV003326120 RCV000635546 RCV000691870 RCV000807361 RCV000703847 RCV000796649 RCV000239713 RCV000239664 RCV000239670 RCV000239648 RCV000239674 RCV000239717 RCV000133394 RCV001854441 RCV000239720 RCV000239656 RCV001379564 RCV001390199 RCV001384375 RCV001386118 RCV001385607 RCV001390959 RCV001384269 RCV001380875 RCV001384024 RCV001387218 RCV003450179 RCV001384858 RCV001380279 RCV001384571 RCV001380023 RCV001380040 RCV001533142 RCV001553626 RCV001779546 RCV001897169 RCV002049690 RCV001941786 RCV001950929 RCV001953906 RCV002035372 RCV002000020 RCV002038045 RCV001951088 RCV001958597 RCV001956353 RCV001972808 RCV002000839 RCV002039408 RCV001907594 RCV001899744 RCV001953597 RCV001901629 RCV001938113 RCV001963303 RCV001922269 RCV005089641 RCV000239654 RCV002289429 RCV002290146 RCV000635567 RCV000155908 RCV002308476 RCV003326161 RCV003326164 RCV003607522 RCV000003529 RCV000003531 RCV000003534 RCV000239626 RCV003326113 RCV003326114 RCV003607274 RCV001219608 RCV000239623 RCV000239714 RCV003058530 RCV002681653 RCV002765625 RCV002790426 RCV002816252 RCV002880236 RCV002853446 RCV003029680 RCV003046718 RCV003052484 RCV000204355 RCV000239690 RCV001244466 RCV000239675 RCV000475095 RCV000537263 RCV000239668 RCV003140377 RCV003140390 RCV000230210 RCV000228856 RCV000226049 RCV000231805 RCV000233680 RCV000230881 RCV000230001 RCV000233508 RCV003500521 RCV000239662 RCV000239620 RCV000239694 RCV000239621 RCV000239692 RCV000239647 RCV000239688 RCV000239711 RCV000239684 RCV000239639 RCV000239636 RCV000239706 RCV000239666 RCV000239660 RCV000239618 RCV000239723 RCV000239698 RCV000239679 RCV000239633 RCV000239718 RCV000239672 RCV000239628 RCV000239615 RCV000239710 RCV000239695 RCV000239708 RCV000812531 RCV001389700 RCV001383231 RCV003326168 RCV003326169 RCV003316953 RCV003316956 RCV003326170 RCV003326242 RCV003326243 RCV003326244 RCV003326245 RCV003326246 RCV003326247 RCV003326248 RCV003326249 RCV003326250 RCV003326251 RCV003326252 RCV003326253 RCV003326254 RCV003326255 RCV003326257 RCV003326258 RCV003326259 RCV003326260 RCV003326261 RCV003326262 RCV003326263 RCV003326264 RCV003326265 RCV003326266 RCV003326267 RCV003326268 RCV003326269 RCV003326270 RCV003326271 RCV003326272 RCV003326273 RCV003326274 RCV003326275 RCV003326276 RCV003326277 RCV003326279 RCV003326280 RCV003326281 RCV003326282 RCV003326283 RCV003326284 RCV003334782 RCV003607592 RCV003461591 RCV003450160 RCV003450165 RCV003450203 RCV003450204 RCV003450205 RCV003500862 RCV003501093 RCV003501163 RCV003501164 RCV003501728 RCV003500334 RCV003607813 RCV003607854 RCV003607840 RCV003608165 RCV003608323 RCV003608297 RCV003608347 RCV003607099 RCV003847427 RCV003316520 RCV000258912 RCV003607282 RCV003500528 RCV000475965 RCV000473630 RCV000470306 RCV000461846 RCV000468103 RCV000459716 RCV000702300 RCV005090932 RCV000635570 RCV001064850 RCV000690635 RCV001851346 RCV001044760 RCV000817465 RCV005091030 RCV001390960 RCV001390961 RCV003316643 RCV005091031 RCV001856948 RCV002523985 RCV000815117 RCV001390962 RCV000696880 RCV000989762 RCV000496097 RCV003449394 RCV001208051 RCV001386655 RCV003500542 RCV002527611 RCV000550577 RCV000530010 RCV000549849 RCV003500565 RCV005091424 RCV001217705 RCV000807381 RCV000635547 RCV000635552 RCV000635553 RCV000635535 RCV003500586 RCV002531427 RCV000698319 RCV000685151 RCV000692108 RCV000692102 RCV000685150 RCV000697842 RCV001048163 RCV001855937 RCV001855939 RCV003500601 RCV000806769 RCV000822765 RCV000814030 RCV000820246 RCV000797126 RCV000816840 RCV000811522 RCV000799523 RCV000804949 RCV002267628 RCV003607382 RCV001029847 RCV001071417 RCV001071000 RCV001036238 RCV001048781 RCV001063466 RCV001048645 RCV001040528 RCV001217352 RCV001202618 RCV001204020 RCV001206966 RCV001212592 RCV001234310 RCV001236967 RCV001880199 RCV001297304 RCV001295990 RCV001310193	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Birt-Hogg-Dube syndrome 1	Likely pathogenic; Pathogenic	rs398124533, rs398124534, rs2046880504, rs2145049426, rs2144896021, rs2144858986, rs587782069, rs368778627, rs2544250574, rs80338682, rs137852929, rs750146811, rs878854340, rs786203218, rs2544145845, rs876660611, rs878855217, rs776896550, rs878854341, rs753009073, rs879255679, rs755959303, rs879255678, rs879255677, rs879255667, rs879255662, rs879255660, rs886039371, rs773946854, rs2544172290, rs2144894415, rs2544236108, rs2544280687, rs1064793128, rs1131690826, rs1131690839, rs754616167, rs758385503, rs1555611494, rs1597591875, rs1414696397, rs2047316806	RCV005003458 RCV005007995 RCV005867002 RCV005423982 RCV005016733 RCV005868493 RCV005437969 RCV004567166 RCV005421276 RCV004760319 RCV004566678 RCV004786235 RCV005415338 RCV005600876 RCV004567302 RCV004064990 RCV005003569 RCV004567762 RCV005361466 RCV005620931 RCV004020988 RCV004591103 RCV005016650 RCV005008214 RCV004786636 RCV005246921 RCV004020987 RCV004020986 RCV005361499 RCV005249499 RCV005621253 RCV004442566 RCV004589270 RCV004589367 RCV005600942 RCV005620951 RCV005010408 RCV004568618 RCV004796200 RCV004591460 RCV004792533 RCV003883529 RCV005601736	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma of colon	Likely pathogenic; Pathogenic	rs758175953, rs879255678	RCV000762981 RCV000762980	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs767671406	RCV005868122	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromophobe renal cell carcinoma	Pathogenic	rs2544161667	RCV000003535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs398124530, rs398124533, rs398124534, rs2144896021, rs587782069, rs80338682, rs786203218, rs876660611, rs776896550, rs753009073, rs755959303, rs879255678, rs886039371, rs886039370, rs1131690833, rs1131690841, rs1131690839	RCV002505009 RCV005003458 RCV005007995 RCV005016733 RCV002498642 RCV002490302 RCV005003321 RCV002498825 RCV005003569 RCV005361466 RCV004796130 RCV005016650 RCV005008214 RCV005361499 RCV002479990 RCV002496889 RCV002481559 RCV005010408	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial spontaneous pneumothorax	Pathogenic; Likely pathogenic	rs398124526, rs398124530, rs398124533, rs398124534, rs398124542, rs2144896021, rs587782069, rs368778627, rs80338682, rs137852929, rs750146811, rs886037608, rs886037609, rs886037610, rs786203218, rs758175953, rs876660611, rs776896550, rs753009073, rs755959303, rs879255678, rs886039371, rs886039370, rs1131690833, rs1131690835, rs1131690841, rs1131690839, rs1567807517	RCV001292861 RCV002505009 RCV005003458 RCV005007995 RCV000781384 RCV005016733 RCV002498642 RCV000148502 RCV000003530 RCV005003321 RCV000781382 RCV000003538 RCV000003539 RCV000003540 RCV000003542 RCV000003541 RCV000762981 RCV005003569 RCV005361466 RCV004796130 RCV005016650 RCV000762980 RCV005361499 RCV002479990 RCV002496889 RCV003447534 RCV002481559 RCV005010408 RCV000781383	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FLCN-related disorder	Likely pathogenic; Pathogenic	rs398124529, rs398124533, rs398124541, rs80338682, rs137852929, rs786203218, rs767671406, rs876658390, rs878855217, rs2544161258, rs1131690840	RCV003398684 RCV003421978 RCV003415852 RCV003934796 RCV003390636 RCV003914800 RCV004745245 RCV004745285 RCV004745290 RCV004745304 RCV003924355 RCV003409680	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs398124524, rs398124525, rs398124526, rs398124527, rs398124528, rs398124529, rs398124530, rs398124533, rs398124534, rs398124535, rs398124536, rs398124541, rs398124542, rs2144810362, rs2144832772, rs2144869206, rs2544254526, rs2144983515, rs2047242821, rs2145049426, rs2144896021, rs2145010299, rs2144869904, rs1555607929, rs2144840088, rs2144894376, rs2144871276, rs587781952, rs587782069, rs368778627, rs2544314925, rs2144983543, rs372918705, rs2544281896, rs2544250633, rs2544250574, rs2544234013, rs2544232305, rs864622651, rs2544148969, rs2544221037, rs2544162203, rs2544195992, rs2544160435, rs755959303, rs2544143046, rs2544193577, rs2544148797, rs1266098984, rs2046884079, rs1555607296, rs2544124546, rs80338682, rs137852929, rs750146811, rs886037608, rs886037609, rs786202475, rs786202541, rs786203218, rs786202081, rs2544284170, rs2544315366, rs2544282524, rs2544284444, rs2544145845, rs2544312685, rs767671406, rs876660810, rs758175953, rs876658409, rs876660611, rs876658390, rs878855214, rs878855213, rs878855217, rs776896550, rs878855212, rs2544141326, rs2544161621, rs879255684, rs753009073, rs879255683, rs879255681, rs879255679, rs879255678, rs879255677, rs879255676, rs879255675, rs879255668, rs879255667, rs879255663, rs558699420, rs886039370, rs886039369, rs886042033, rs561236067, rs2544193402, rs2544234869, rs2544193658, rs1555611438, rs1064793766, rs2145011802, rs2144981510, rs2544145930, rs2544123901, rs2544251913, rs2544258497, rs2544312335, rs1057520528, rs1060502369, rs1060502368, rs1064792959, rs1064793128, rs1064793127, rs1085307771, rs1085307478, rs1131690833, rs1131690827, rs1131690835, rs1131690841, rs1131690828, rs1131690829, rs1131690837, rs1131690831, rs1131690832, rs1131690830, rs932256543, rs1060502367, rs1131690826, rs1131690840, rs1131690836, rs1131690824, rs1131690825, rs1131690839, rs754616167, rs1131690838, rs1555609514, rs1555609899, rs1555611494, rs1555607640, rs1555607960, rs748148728, rs1254608489, rs1490424623, rs1567816285, rs1567809782, rs1567807517, rs1597574088, rs1597591875, rs1597592246, rs1597617148, rs1597578776, rs1597578868, rs1414696397, rs1597607423, rs1597613070, rs1597618162, rs1597618627, rs2047181267, rs2046866025	RCV000165348 RCV000492656 RCV004019577 RCV000492221 RCV000166694 RCV002390247 RCV002399473 RCV000492149 RCV000492350 RCV000492373 RCV000492649 RCV000492401 RCV000492117 RCV002404906 RCV002395868 RCV002350733 RCV006382012 RCV002377570 RCV005572579 RCV002350726 RCV002370435 RCV002352650 RCV006396774 RCV002331569 RCV005841915 RCV002334973 RCV002407057 RCV000130322 RCV000130556 RCV002408655 RCV002326214 RCV002321131 RCV002331965 RCV002320487 RCV002328258 RCV002353764 RCV002353775 RCV002378146 RCV002393975 RCV002416606 RCV002381035 RCV002412417 RCV002445874 RCV002443388 RCV002380584 RCV002392084 RCV002392106 RCV002387793 RCV002385467 RCV002380844 RCV002380846 RCV002380847 RCV002400963 RCV000130568 RCV000492709 RCV000166580 RCV000222354 RCV005562299 RCV005338071 RCV000165301 RCV000165394 RCV000166434 RCV000164717 RCV002437162 RCV002437183 RCV002442326 RCV005333447 RCV004064989 RCV006397143 RCV000492723 RCV000217238 RCV000219888 RCV000218992 RCV000217378 RCV000222065 RCV000213153 RCV003380528 RCV003165654 RCV000492527 RCV000492339 RCV003362734 RCV003187521 RCV003187527 RCV002401949 RCV001012269 RCV001012272 RCV002392752 RCV003298322 RCV000492464 RCV000567617 RCV000492426 RCV000492447 RCV000492381 RCV002379071 RCV000492726 RCV002446482 RCV003298321 RCV003165678 RCV001009818 RCV002365271 RCV003362740 RCV004619237 RCV003306491 RCV003293569 RCV003306508 RCV005834484 RCV005335759 RCV004949066 RCV006381965 RCV003360553 RCV003358347 RCV005335852 RCV004524828 RCV004524841 RCV003168635 RCV004022726 RCV000492409 RCV000492646 RCV000492502 RCV005328279 RCV004948366 RCV005562375 RCV000492176 RCV000492254 RCV000492599 RCV000492687 RCV000492587 RCV000492669 RCV000492570 RCV000492475 RCV000492743 RCV000492227 RCV000492207 RCV000492583 RCV000492729 RCV000492125 RCV000492185 RCV000492703 RCV000492494 RCV000492196 RCV000492625 RCV000492609 RCV000492164 RCV002383981 RCV002413404 RCV002367730 RCV005338214 RCV000572601 RCV000574913 RCV000569710 RCV000561793 RCV002384274 RCV001010529 RCV002352139 RCV002442448 RCV005841618 RCV002334419 RCV006386972 RCV004619422 RCV004619431 RCV002370091 RCV001015314 RCV001011903 RCV001011736 RCV001023251 RCV001021922 RCV001018074 RCV001018999 RCV001012800 RCV004031520 RCV004619553 RCV004951445	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary renal cancer	Likely pathogenic; Pathogenic	rs1567816339	RCV000761277	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoparathyroidism	Pathogenic	rs886039370	RCV005625490	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited renal cancer	Pathogenic	rs80338682	RCV006273045	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesothelioma	Pathogenic	rs879255676	RCV005891088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple monogenic benign skin tumours	Pathogenic	rs398124541	RCV005859499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs80338682	RCV006273044 RCV006273046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs398124530, rs398124533, rs398124534, rs2144896021, rs587782069, rs80338682, rs786203218, rs758175953, rs876660611, rs776896550, rs753009073, rs755959303, rs879255678, rs886039371, rs886039370, rs1131690833, rs1131690841, rs1131690839	RCV002505009 RCV005003458 RCV005007995 RCV005016733 RCV002498642 RCV002490302 RCV005003321 RCV002498825 RCV000762981 RCV005003569 RCV005361466 RCV004796130 RCV005016650 RCV000762980 RCV005361499 RCV002479990 RCV002496889 RCV002481559 RCV005010408	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian cancer	Likely pathogenic	rs771205573, rs2144981630	RCV003154804 RCV003154812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic astrocytoma	Likely pathogenic	rs1567813248	RCV000761144	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pneumothorax - familial	Pathogenic; Likely pathogenic	rs398124541, rs1555607929, rs2544250574, rs137852929, rs786203218, rs767671406, rs886041203, rs1597618627	RCV005865233 RCV005865533 RCV005865569 RCV005865156 RCV005865259 RCV005865274 RCV005865287 RCV005865447	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension	Pathogenic	rs137852929	RCV005862695	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exstrophy-epispadias complex	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMPHALOCELE EXSTROPHY IMPERFORATE ANUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POTOCKI-LUPSKI SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spontaneous pneumothorax	Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	26974543		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	19733897, 23922894		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28980860		★☆☆☆☆ Found in Text Mining only
Angiolipoma	Angiolipoma	GENOMICS_ENGLAND_DG	27899189		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	27120335	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29147010		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29147010	Associate	★☆☆☆☆ Found in Text Mining only
Asthma Occupational	Asthma	Pubtator	29147010	Associate	★☆☆☆☆ Found in Text Mining only
Asthma, Occupational	Asthma	BEFREE	29147010		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	30126026		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
	Birt-Hogg-Dube Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	15657874	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	36382415	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20392993		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30360018	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Sequestration	Bronchopulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33459596, 35863698, 36859772, 38430974	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26342594		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	12471204, 17133269, 17611575, 22977732, 23784378, 23895657, 24305604, 26342594, 26603437, 26776076, 27991910, 28069055, 28499369, 31034483, 34941164, 36258004, 36382415, 37569793, 38430974, 38456787, 40707936	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASDB_DG	23829686		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	12204536		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	14521208, 14961590		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic Disease	Chronic disease	Pubtator	15657874	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	25597876		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	12204536		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22790147	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	28805452		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14627671		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12746401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15657874, 25583493, 36859772	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	GENOMICS_ENGLAND_DG	15805188		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	12204536		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14627671, 16447066, 17149965, 19402075, 19733897, 19843504, 21209915, 21220493, 22977732, 23096221, 23416984, 23566034, 24434776, 28069055, 28499369, 28623476, 29897930, 31777168		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	UNIPROT_DG	18794106		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	LHGDN	17496196		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	24346394, 28069055		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	CTD_human_DG	27072130		★☆☆☆☆ Found in Text Mining only
Cystic Disease Of Lung	Cystic lung disease	Pubtator	18579543, 28558743	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	37182269	Associate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	15657874, 19116017	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16691634		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	30126026		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	29897930		★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	BEFREE	30843872		★☆☆☆☆ Found in Text Mining only
Familial cerebral cavernous malformation	Cerebral Cavernous Malformation	BEFREE	27722904		★☆☆☆☆ Found in Text Mining only
Familial cerebral cavernous malformation	Cerebral cavernous malformation	Pubtator	27722904	Associate	★☆☆☆☆ Found in Text Mining only
Familial spontaneous pneumothorax	Spontaneous Pneumothorax	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial spontaneous pneumothorax	Spontaneous Pneumothorax	BEFREE	15805188, 16825879, 19116017, 19483054, 27486260, 31177286, 31625278		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fibrofolliculoma	Fibrofolliculoma	BEFREE	17124507, 19659657, 20573232, 21209915, 21412933, 21781069, 23096221, 23108783, 23874397, 24434776, 26342594, 27514594, 28069055, 28970150, 29157599, 31778855		★☆☆☆☆ Found in Text Mining only
Fibrofolliculoma	Fibrofolliculoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	28980860		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	28785590	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	CTD_human_DG	12204536, 27072130		★☆☆☆☆ Found in Text Mining only
Hereditary clear cell renal cell carcinoma	Hereditary Renal Carcinoma	ORPHANET_DG	12471204		★☆☆☆☆ Found in Text Mining only
Hereditary clear cell renal cell carcinoma	Hereditary Renal Carcinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	18476789		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
HIP DYSPLASIA, BEUKES TYPE	Hip Dysplasia	BEFREE	17124507, 17323425, 18573707, 18663353, 18794106, 19659657, 20573232, 22146830, 22709692, 23096221, 23386036, 23416984, 23784378, 23799055, 24996715, 26334087, 27258496, 27303042, 27734835, 27871249, 28007907, 28039480, 28222720, 28970150, 30446510, 31177286, 31567476, 31615547, 31625278, 31694440, 31777168, 31806376		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	14521208, 14961590, 18234728, 19733897, 21496834		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31694440		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26928018, 28499369, 29357828, 31615547	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	11927500, 15956655, 17323425, 18234728, 18403135, 18663353, 19116017, 19733897, 20573232, 21162720, 21209915, 23108783, 23155228, 23264078, 23874397, 25594584, 26342594, 28007907, 28499369, 28970150		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	LHGDN	12907635		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	12204536, 15657874, 19116017, 19850877, 21412933, 22146830, 22679611, 22864127, 22965878, 22977732, 23038766, 24305604, 25194921, 25594584, 26342594, 26928018, 27258496, 28499369, 28787086, 29321196, 29357828, 29767721, 30326848, 30360018, 32024715, 32083993, 32184379, 34229741, 35176117, 35863698, 36258004, 36859772, 37170274, 38456787, 40210444	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33459596	Inhibit	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Large intestinal polyposis	Large intestinal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	GENOMICS_ENGLAND_DG	27899189		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	15657874, 22977732, 27905298, 32184379	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28558743		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	26974543		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26974543	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20392993		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	12204536, 15448018, 16825879, 18234728, 19285230, 20059341, 21412933, 22146830, 22977732, 23108783, 23264078, 23922894, 24305604, 26608100, 27258496, 28007907, 28039480, 29767721, 30326848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16870330		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	27258496		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14627671, 23077212, 23096221, 28039480, 31266032, 31395606		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28069055	Associate	★☆☆☆☆ Found in Text Mining only
Multiple fibrofolliculomas	Multiple Fibrofolliculomas	CLINVAR_DG	12204536, 12471204, 15852235, 17028174, 17496196, 18234728, 18403135, 18505456, 18579543, 18663353, 18794106, 19457309, 19785621, 19802896, 20413710, 20522427, 20618353, 21520333, 21538689, 21937013, 22068306, 22146830, 22571569, 22679611, 22977732, 23050938, 23264078, 23364595, 23386036, 23414156, 23784378, 23848572, 24190151, 24393238, 24994497, 25519458, 25827758, 26334087, 26402642, 26603437, 26943385, 27220747, 27257988, 27356891, 27470329, 27642565, 27643397, 27652079, 27734835, 27906882, 28009417, 28499369, 28558743, 28724667, 28869776		★☆☆☆☆ Found in Text Mining only
Multiple fibrofolliculomas	Multiple Fibrofolliculomas	CLINGEN_DG	12204536, 14769940, 19659657, 19843504		★☆☆☆☆ Found in Text Mining only
Multiple fibrofolliculomas	Multiple Fibrofolliculomas	CTD_human_DG	12204536, 24726356, 27072130		★☆☆☆☆ Found in Text Mining only
Multiple fibrofolliculomas	Multiple Fibrofolliculomas	UNIPROT_DG	12204536, 15852235, 18234728, 19785621		★☆☆☆☆ Found in Text Mining only
Multiple fibrofolliculomas	Multiple Fibrofolliculomas	BEFREE	12907635, 15852235, 16447066, 17124507, 17323425, 18234728, 18437022, 18573707, 18663353, 18794106, 19116017, 19402075, 19562744, 19659657, 19733897, 19785621, 19802896, 19843504, 20573232, 20618353, 21162720, 21412933, 21538689, 21781069, 21794948, 22146830, 22446046, 22571569, 22709692, 23077212, 23096221, 23264078, 23386036, 23414156, 23416984, 23495951, 23566034, 23784378, 23799055, 23922894, 24346920, 24994497, 24996715, 25519092, 25594584, 25597876, 25827758, 26028485, 26073198, 26334087, 26342594, 26603437, 26608100, 26974543, 26980015, 27229674, 27258496, 27303042, 27486260, 27514594, 27596542, 27633572, 27643397, 27722904, 27734835, 27871249, 27991910, 28007907, 28039480, 28069055, 28151982, 28222720, 28499369, 28558743, 28805452, 28970150, 29157599, 29537177, 29720200, 30446510, 31177286, 31266032, 31567476, 31615547, 31625278, 31694440, 31777168, 31778855, 31806376		★☆☆☆☆ Found in Text Mining only
Multiple fibrofolliculomas	Multiple Fibrofolliculomas	GENOMICS_ENGLAND_DG	19483054, 26928018		★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12907635, 14521208, 14627671, 14961590, 16825879, 17124507, 17149965, 18663353, 19843504, 20522427, 20573232, 20618353, 21162720, 21209915, 21538689, 22211584, 22441547, 22709692, 22977732, 23077212, 23096221, 23108783, 23150719, 23223565, 23264078, 23386036, 23416984, 23784378, 23799055, 23874397, 23922894, 24726356, 26334087, 26418749, 26980015, 27267853, 27353360, 27633572, 27871249, 28007907, 28039480, 28499369, 28583723, 28656962, 28785590, 28970150, 29018350, 29767721, 29848618, 30843872, 31395606, 31404503, 31672913, 31778855, 31806376		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	11100034, 12204536, 12471204, 15657874, 15805188, 15852235, 17034545, 17124507, 17611575, 18234728, 18505456, 18573707, 18579543, 18794106, 19457309, 19785621, 19802896, 20413710, 20618353, 21401403, 21506000, 21538689, 21937013, 22068306, 22146830, 22148048, 22571569, 22679611, 22725638, 23264078, 23386036, 23741947, 23784378, 23848572, 24190151, 24994497, 25594584, 25655561, 25827758, 26028485, 26387484, 26402642, 26581862, 26603437, 26659639, 26943385, 27220747, 27257988, 27356891, 27470329, 27734835, 27780965, 27906882, 28151982, 28499369, 28558743, 28724667, 28869776, 29720200		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	CTD_human_DG	12204536		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	14961590		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	38050610	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29893999		★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	19733897, 21496834		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	12204536		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	36935552	Associate	★☆☆☆☆ Found in Text Mining only
Parotid oncocytoma	Salivary gland oncocytoma	BEFREE	20618353		★☆☆☆☆ Found in Text Mining only
Parotid oncocytoma	Salivary gland oncocytoma	GENOMICS_ENGLAND_DG	27899189		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	CLINVAR_DG	12204536, 15852235, 23784378, 25126726		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	ORPHANET_DG	15657874, 18505456		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	UNIPROT_DG	15657874, 18505456, 18579543		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	GENOMICS_ENGLAND_DG	15805188, 19483054, 26928018		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	18505456, 19802896, 22446046, 25807935, 26398834, 27229674, 28785590, 28805452, 31567476, 31625278		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	29897930		★☆☆☆☆ Found in Text Mining only
Potocki-Lupski syndrome	Potocki-Lupski Syndrome	BEFREE	22639462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Potocki-Lupski syndrome	Potocki-Lupski Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Potocki-Lupski syndrome	Potocki-Lupski Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	15805188, 19116017		★☆☆☆☆ Found in Text Mining only
Receptive language delay	Receptive language delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12204536, 15448018, 18234728, 20059341, 21412933, 22146830, 22977732, 23108783, 23264078, 23784378, 23922894, 24305604, 26608100, 27258496, 28007907, 28039480, 29767721, 30326848		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	GENOMICS_ENGLAND_DG	27899189		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	12204536		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14627671, 14961590, 16447066, 17149965, 19285230, 19402075, 19843504, 21209915, 21220493, 22977732, 23096221, 23416984, 23566034, 23784378, 23895657, 23922894, 24434776, 25597876, 26342594, 26418749, 26603437, 28039480, 28069055, 28499369, 28623476, 29897930, 31777168		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GENOMICS_ENGLAND_DG	27899189		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	17317953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	12204536		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	22864127, 22977732, 29357828, 31615547, 32024715, 32184379	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	21162720, 22977732		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	15657874, 28499369	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	17124507, 23414156, 27633572, 28499369		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	27633572		★☆☆☆☆ Found in Text Mining only
Spontaneous pneumothorax	Spontaneous pneumothorax	CTD_human_DG	12204536		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spontaneous pneumothorax	Spontaneous pneumothorax	BEFREE	16825879, 18234728, 18505456, 18579543, 21162720, 22446046, 23264078, 25807935, 26398834, 27486260, 28623476, 28785590, 28805452, 28970150, 31625278, 31694440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spontaneous pneumothorax	Spontaneous pneumothorax	GENOMICS_ENGLAND_DG	19483054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spontaneous pneumothorax	Spontaneous pneumothorax	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16870330		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16870330		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	29357828	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27258496	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23416984, 27258496		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	40277780	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	27258496		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	27258496, 40277780	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	20392993, 26928018		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	22571569, 27643397		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	34767027	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	23566034, 23922894		★☆☆☆☆ Found in Text Mining only