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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7248
Gene name	TSC complex subunit 1
Gene symbol	TSC1
Synonyms (NCBI Gene)	LAMTSC
Chromosome	9
Chromosome location	9q34.13
Summary	This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapam

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35958226	C>T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs75820036	G>A,C,T	Conflicting-interpretations-of-pathogenicity, not-provided, benign-likely-benign, pathogenic, benign, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs77464996	G>A,T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign, benign, uncertain-significance	Missense variant, coding sequence variant
rs118203345	A>C,G	Likely-pathogenic, not-provided	Coding sequence variant, missense variant, intron variant
rs118203352	T>G	Pathogenic, not-provided	Splice acceptor variant, intron variant
rs118203353	C>A,T	Pathogenic, likely-pathogenic, not-provided	Splice acceptor variant, intron variant
rs118203360	AG>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs118203362	->T,TT	Pathogenic, not-provided	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs118203370	C>A,T	Likely-pathogenic, not-provided	Synonymous variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs118203372	C>A,T	Likely-pathogenic, not-provided	Intron variant, splice donor variant
rs118203380	ACACCAAGACGC>TG	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203384	G>A,C	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant, stop gained
rs118203387	C>T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203388	G>T	Pathogenic	Coding sequence variant, stop gained
rs118203395	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, not-provided	Coding sequence variant, missense variant
rs118203396	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs118203398	G>A,C	Benign, pathogenic, likely-benign, not-provided	Coding sequence variant, synonymous variant, stop gained
rs118203402	C>G,T	Likely-pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs118203403	A>C,G,T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs118203417	AA>-,A	Pathogenic, not-provided	Coding sequence variant, frameshift variant, stop gained
rs118203419	C>T	Likely-pathogenic, pathogenic, not-provided	Splice donor variant
rs118203423	C>G,T	Likely-pathogenic, pathogenic, not-provided	Splice acceptor variant
rs118203426	A>C,T	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs118203427	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203434	G>A	Pathogenic	Coding sequence variant, stop gained
rs118203435	C>-,CCC	Pathogenic, not-provided	Coding sequence variant, splice donor variant
rs118203436	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, not-provided	Coding sequence variant, missense variant
rs118203438	C>A,T	Pathogenic, not-provided	Splice donor variant
rs118203439	T>C	Likely-pathogenic, uncertain-significance, not-provided	Intron variant
rs118203440	T>A,C	Likely-pathogenic, pathogenic, not-provided	Splice acceptor variant
rs118203447	A>C,G,T	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant, stop gained
rs118203450	C>A,T	Likely-benign, pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant, stop gained
rs118203451	AT>-	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203454	A>C	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203463	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203464	GT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203474	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant, stop gained
rs118203477	AG>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203478	->A,AA	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203479	CA>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203501	T>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203504	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, benign, likely-benign	Coding sequence variant, stop gained, missense variant
rs118203506	G>-,GG	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203509	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203527	CTTT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203537	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203542	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203544	GT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203549	G>A	Likely-pathogenic, pathogenic, not-provided	Coding sequence variant, stop gained
rs118203550	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203557	TTTCATCAGCACTGCCGCAGGGC>-,TTTCATCAGCACTGCCGCAGGGCTTTCATCAGCACTGCCGCAGGGC	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203563	G>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203564	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203597	GT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203599	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203603	->T	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203606	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203610	C>G,T	Pathogenic, not-provided	Splice donor variant
rs118203614	C>A,G,T	Pathogenic, not-provided	Splice acceptor variant
rs118203620	C>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203631	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203638	AACT>-,AACTAACT	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203645	TA>-	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203647	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203650	C>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203657	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs118203661	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203662	C>T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203668	G>C,T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203670	T>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign	Coding sequence variant, missense variant
rs118203673	G>A,C	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant, stop gained
rs118203680	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203682	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203685	C>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203687	C>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203704	T>C	Pathogenic, not-provided	Splice acceptor variant
rs118203706	G>C	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203707	TTTG>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203709	->T	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203711	CAAC>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203712	C>-,CC	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203717	T>A,C,G	Likely-pathogenic, not-provided	Splice acceptor variant
rs118203720	G>A	Conflicting-interpretations-of-pathogenicity, not-provided, benign, likely-benign	Coding sequence variant, synonymous variant
rs118203723	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs118203724	T>-,TT,TTT	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203726	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203727	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203728	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203732	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203735	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203742	C>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, missense variant
rs118203745	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, not-provided	Coding sequence variant, synonymous variant, missense variant
rs142662480	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs142954164	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs148931779	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199620268	A>C	Not-provided, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs200200869	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs200514807	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201452238	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202241429	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs281875358	AG>-,AGAG	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs368481360	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371225009	T>C,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371555137	T>C,G	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs371908551	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs372215435	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373454700	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374222196	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375956049	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs377598226	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514774	G>A	Pathogenic, not-provided	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs397514776	A>C	Pathogenic, not-provided	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs397514777	CC>-,CCC	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397514783	G>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs397514800	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Missense variant, coding sequence variant
rs397514842	C>T	Pathogenic, not-provided	Splice donor variant
rs397514859	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Missense variant, coding sequence variant
rs397514861	T>-	Pathogenic, not-provided	Intron variant, frameshift variant, coding sequence variant
rs397514862	G>A,T	Uncertain-significance, pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs397514867	G>C	Pathogenic, not-provided	Stop gained, coding sequence variant
rs397514871	G>A	Pathogenic, not-provided	Stop gained, coding sequence variant
rs397514874	G>A	Pathogenic, not-provided	Stop gained, coding sequence variant
rs535868591	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs548002938	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs745384145	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs747602915	C>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs748901883	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs749030456	G>A	Uncertain-significance, likely-benign, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs749979841	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs750512029	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant
rs752054698	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs752290177	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs753360364	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs753838459	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs761959210	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs765695557	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs769566267	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs773003016	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs775869914	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs779395169	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant, intron variant, 5 prime UTR variant
rs779599439	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs781371665	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs794727320	CACT>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053462	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796053464	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053466	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053470	->A	Pathogenic	Coding sequence variant, stop gained
rs796053471	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039662	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039735	CTGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041456	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041524	C>A	Pathogenic	Coding sequence variant, stop gained
rs886041538	C>A	Pathogenic	Coding sequence variant, stop gained
rs886041638	T>C	Pathogenic	Splice acceptor variant
rs886041684	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041959	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs886041977	GTGGTGACATCGGCTGAACGATGAGGAAAGCG>AACGATGAGGAAAGC	Pathogenic	Coding sequence variant, frameshift variant
rs886042012	->AAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTC	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs940292214	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, coding sequence variant, missense variant
rs1057517842	GAGT>AAACGCTCTTAAAACAA	Pathogenic	Coding sequence variant, frameshift variant
rs1057518217	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057518945	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519319	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057520444	T>A	Pathogenic	Coding sequence variant, stop gained
rs1060503192	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1060503210	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503213	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503224	C>G	Likely-pathogenic	Splice donor variant
rs1060505021	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1064793494	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1064793693	ATT>G	Pathogenic	Coding sequence variant, frameshift variant
rs1064793844	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794132	A>T	Likely-pathogenic, pathogenic	Splice donor variant
rs1064794504	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1064794760	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs1064795285	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796162	GTTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796237	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, stop gained
rs1114167619	G>A	Pathogenic	Coding sequence variant, stop gained
rs1114167620	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1157060310	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1447417010	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554813331	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554813568	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs1554814935	->CGGTCATGCTGCAGCTGTCT	Pathogenic	Coding sequence variant, frameshift variant
rs1554815049	CTCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554815054	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554815246	->GCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1554815454	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554815476	GGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554815828	GCCCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554815829	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554815856	A>-	Pathogenic	Coding sequence variant, stop gained
rs1554815889	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554815914	TCCCGCA>GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554816029	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554816076	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554816245	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554816394	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554816432	C>T	Pathogenic	Splice acceptor variant
rs1554817140	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554817164	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554817222	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554817227	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554817259	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554817334	T>C	Likely-pathogenic	Intron variant
rs1554817336	A>G	Likely-pathogenic	Splice donor variant
rs1554817344	TTATCAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554817388	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554817612	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554817676	TCGATCAC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554817691	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554817707	CACCT>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1554819509	->CTTGACCACTTCT	Pathogenic	Coding sequence variant, frameshift variant
rs1554819620	C>T	Likely-pathogenic	Splice acceptor variant
rs1554819870	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs1554819896	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554819900	AGAAG>GAAA	Pathogenic	Coding sequence variant, frameshift variant
rs1554819932	TG>A	Pathogenic	Coding sequence variant, frameshift variant
rs1554820321	A>C	Likely-pathogenic	Intron variant
rs1554820976	A>G	Likely-pathogenic	Splice donor variant
rs1554821022	CAGCATGGCAAGAAGCTCC>TTG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1564474974	CAACAGCTGCCTGTTCAAGAAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564475884	G>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1564477162	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1564478705	->GA	Pathogenic	Frameshift variant, coding sequence variant
rs1564480935	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564481122	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564482288	GCTGAGAAC>CA	Pathogenic	Frameshift variant, coding sequence variant
rs1564482622	C>A	Pathogenic	Stop gained, coding sequence variant
rs1564488264	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564488773	GG>-,G	Pathogenic	Frameshift variant, coding sequence variant
rs1564488810	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs1564490210	C>T	Likely-pathogenic	Splice acceptor variant
rs1564497308	A>G	Likely-pathogenic	Splice donor variant
rs1564497826	T>A	Pathogenic	Stop gained, coding sequence variant
rs1564504869	->TTTAA	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1588290078	G>A	Pathogenic	Coding sequence variant, stop gained
rs1588290111	T>C	Likely-pathogenic	Splice acceptor variant
rs1588290641	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588290658	->GG	Pathogenic	Coding sequence variant, frameshift variant
rs1588291118	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588297391	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1588298866	TCTTCTTA>-	Likely-pathogenic	Intron variant, splice donor variant
rs1588299158	T>A	Pathogenic	Coding sequence variant, stop gained
rs1588299201	G>-	Pathogenic	Coding sequence variant, stop gained
rs1588301269	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588301374	TCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588301951	G>A	Pathogenic	Coding sequence variant, stop gained
rs1588303890	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588303969	->GCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1588309702	->GTCTGGCA	Pathogenic	Coding sequence variant, frameshift variant
rs1588310754	G>A	Pathogenic	Coding sequence variant, stop gained
rs1588312765	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588321344	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588322764	CTGTA>-	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1588324435	GCTGCCCTGGCATA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588324615	TATTTAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588326629	->GTGGTGACATCGGCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1588345595	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1588350477	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588355566	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs1588355628	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs1588355838	C>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, stop gained
rs1588359822	->ATAG	Pathogenic	Coding sequence variant, frameshift variant, intron variant

585

Show/Hide all (585)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006630	hsa-miR-32-5p	Luciferase reporter assayqRT-PCRWestern blot	22431589
MIRT019220	hsa-miR-335-5p	Microarray	18185580
MIRT044756	hsa-miR-320a	CLASH	23622248
MIRT044265	hsa-miR-106b-5p	CLASH	23622248
MIRT041346	hsa-miR-193b-3p	CLASH	23622248
MIRT626526	hsa-miR-548u	HITS-CLIP	23824327
MIRT626525	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT626524	hsa-miR-8087	HITS-CLIP	23824327
MIRT626523	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626522	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626521	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT626520	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT626519	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626518	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT626517	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT626516	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT726226	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726227	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT006630	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT735632	hsa-miR-451a	qRT-PCRWestern blot	26458815
MIRT735632	hsa-miR-451a	FlowLuciferase reporter assayqRT-PCRWestern blot	25915427
MIRT735632	hsa-miR-451a	Luciferase reporter assayWestern blottingqRT-PCR	32013265
MIRT726227	hsa-miR-92b-3p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCR	31975504
MIRT626526	hsa-miR-548u	HITS-CLIP	23824327
MIRT626525	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT626524	hsa-miR-8087	HITS-CLIP	23824327
MIRT626523	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626522	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626521	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT626520	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT626519	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626518	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT626517	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT626516	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1458051	hsa-miR-103a	CLIP-seq
MIRT1458052	hsa-miR-107	CLIP-seq
MIRT1458053	hsa-miR-1197	CLIP-seq
MIRT1458054	hsa-miR-1237	CLIP-seq
MIRT1458055	hsa-miR-1248	CLIP-seq
MIRT1458056	hsa-miR-1301	CLIP-seq
MIRT1458057	hsa-miR-186	CLIP-seq
MIRT1458058	hsa-miR-21	CLIP-seq
MIRT1458059	hsa-miR-2276	CLIP-seq
MIRT1458060	hsa-miR-3064-3p	CLIP-seq
MIRT1458061	hsa-miR-320b	CLIP-seq
MIRT1458062	hsa-miR-320c	CLIP-seq
MIRT1458063	hsa-miR-320d	CLIP-seq
MIRT1458064	hsa-miR-320e	CLIP-seq
MIRT1458065	hsa-miR-361-5p	CLIP-seq
MIRT1458066	hsa-miR-3622b-5p	CLIP-seq
MIRT1458067	hsa-miR-3646	CLIP-seq
MIRT1458068	hsa-miR-4253	CLIP-seq
MIRT1458069	hsa-miR-4304	CLIP-seq
MIRT1458070	hsa-miR-433	CLIP-seq
MIRT1458071	hsa-miR-4429	CLIP-seq
MIRT1458072	hsa-miR-4476	CLIP-seq
MIRT1458073	hsa-miR-4480	CLIP-seq
MIRT1458074	hsa-miR-450b-3p	CLIP-seq
MIRT1458075	hsa-miR-4643	CLIP-seq
MIRT1458076	hsa-miR-4662a-3p	CLIP-seq
MIRT1458077	hsa-miR-4667-5p	CLIP-seq
MIRT1458078	hsa-miR-4672	CLIP-seq
MIRT1458079	hsa-miR-4700-5p	CLIP-seq
MIRT1458080	hsa-miR-4712-3p	CLIP-seq
MIRT1458081	hsa-miR-4713-3p	CLIP-seq
MIRT1458082	hsa-miR-4715-3p	CLIP-seq
MIRT1458083	hsa-miR-4717-3p	CLIP-seq
MIRT1458084	hsa-miR-4737	CLIP-seq
MIRT1458085	hsa-miR-4776-3p	CLIP-seq
MIRT1458086	hsa-miR-500a	CLIP-seq
MIRT1458087	hsa-miR-5047	CLIP-seq
MIRT1458088	hsa-miR-590-5p	CLIP-seq
MIRT1458089	hsa-miR-603	CLIP-seq
MIRT1458090	hsa-miR-637	CLIP-seq
MIRT1458091	hsa-miR-638	CLIP-seq
MIRT1458092	hsa-miR-664	CLIP-seq
MIRT1458093	hsa-miR-7	CLIP-seq
MIRT1458094	hsa-miR-769-3p	CLIP-seq
MIRT1458095	hsa-miR-873	CLIP-seq
MIRT1458051	hsa-miR-103a	CLIP-seq
MIRT1458052	hsa-miR-107	CLIP-seq
MIRT1458096	hsa-miR-1279	CLIP-seq
MIRT1458056	hsa-miR-1301	CLIP-seq
MIRT1458097	hsa-miR-130a	CLIP-seq
MIRT1458098	hsa-miR-130b	CLIP-seq
MIRT1458099	hsa-miR-25	CLIP-seq
MIRT1458100	hsa-miR-301a	CLIP-seq
MIRT1458101	hsa-miR-301b	CLIP-seq
MIRT1458102	hsa-miR-3129-3p	CLIP-seq
MIRT1458103	hsa-miR-3189-3p	CLIP-seq
MIRT1458104	hsa-miR-32	CLIP-seq
MIRT1458105	hsa-miR-335	CLIP-seq
MIRT1458106	hsa-miR-363	CLIP-seq
MIRT1458107	hsa-miR-3666	CLIP-seq
MIRT1458108	hsa-miR-367	CLIP-seq
MIRT1458109	hsa-miR-3974	CLIP-seq
MIRT1458068	hsa-miR-4253	CLIP-seq
MIRT1458110	hsa-miR-4271	CLIP-seq
MIRT1458111	hsa-miR-4274	CLIP-seq
MIRT1458112	hsa-miR-4295	CLIP-seq
MIRT1458113	hsa-miR-4312	CLIP-seq
MIRT1458074	hsa-miR-450b-3p	CLIP-seq
MIRT1458114	hsa-miR-454	CLIP-seq
MIRT1458077	hsa-miR-4667-5p	CLIP-seq
MIRT1458079	hsa-miR-4700-5p	CLIP-seq
MIRT1458081	hsa-miR-4713-3p	CLIP-seq
MIRT1458115	hsa-miR-4720-3p	CLIP-seq
MIRT1458116	hsa-miR-4725-3p	CLIP-seq
MIRT1458117	hsa-miR-4733-5p	CLIP-seq
MIRT1458118	hsa-miR-4747-5p	CLIP-seq
MIRT1458119	hsa-miR-4757-5p	CLIP-seq
MIRT1458120	hsa-miR-4804-3p	CLIP-seq
MIRT1458121	hsa-miR-493	CLIP-seq
MIRT1458087	hsa-miR-5047	CLIP-seq
MIRT1458122	hsa-miR-513a-3p	CLIP-seq
MIRT1458123	hsa-miR-519a	CLIP-seq
MIRT1458124	hsa-miR-519b-3p	CLIP-seq
MIRT1458125	hsa-miR-519c-3p	CLIP-seq
MIRT1458126	hsa-miR-532-5p	CLIP-seq
MIRT1458090	hsa-miR-637	CLIP-seq
MIRT1458091	hsa-miR-638	CLIP-seq
MIRT1458094	hsa-miR-769-3p	CLIP-seq
MIRT1458127	hsa-miR-92a	CLIP-seq
MIRT1458128	hsa-miR-92b	CLIP-seq
MIRT2137419	hsa-miR-1179	CLIP-seq
MIRT2137420	hsa-miR-1202	CLIP-seq
MIRT2137421	hsa-miR-1227	CLIP-seq
MIRT2137422	hsa-miR-1228	CLIP-seq
MIRT2137423	hsa-miR-136	CLIP-seq
MIRT2137424	hsa-miR-141	CLIP-seq
MIRT2137425	hsa-miR-15a	CLIP-seq
MIRT2137426	hsa-miR-15b	CLIP-seq
MIRT2137427	hsa-miR-16	CLIP-seq
MIRT2137428	hsa-miR-1912	CLIP-seq
MIRT2137429	hsa-miR-195	CLIP-seq
MIRT2137430	hsa-miR-200a	CLIP-seq
MIRT2137431	hsa-miR-204	CLIP-seq
MIRT2137432	hsa-miR-211	CLIP-seq
MIRT2137433	hsa-miR-221	CLIP-seq
MIRT2137434	hsa-miR-222	CLIP-seq
MIRT2137435	hsa-miR-2681	CLIP-seq
MIRT2137436	hsa-miR-3065-5p	CLIP-seq
MIRT2137437	hsa-miR-3121-5p	CLIP-seq
MIRT2137438	hsa-miR-3150b-3p	CLIP-seq
MIRT2137439	hsa-miR-3151	CLIP-seq
MIRT2137440	hsa-miR-3169	CLIP-seq
MIRT2137441	hsa-miR-3194-5p	CLIP-seq
MIRT2137442	hsa-miR-338-3p	CLIP-seq
MIRT2137443	hsa-miR-338-5p	CLIP-seq
MIRT2137444	hsa-miR-3615	CLIP-seq
MIRT1458065	hsa-miR-361-5p	CLIP-seq
MIRT2137445	hsa-miR-3667-3p	CLIP-seq
MIRT2137446	hsa-miR-3692	CLIP-seq
MIRT2137447	hsa-miR-3945	CLIP-seq
MIRT2137448	hsa-miR-3972	CLIP-seq
MIRT2137449	hsa-miR-3973	CLIP-seq
MIRT2137450	hsa-miR-424	CLIP-seq
MIRT1458068	hsa-miR-4253	CLIP-seq
MIRT2137451	hsa-miR-4310	CLIP-seq
MIRT1458113	hsa-miR-4312	CLIP-seq
MIRT2137452	hsa-miR-4463	CLIP-seq
MIRT2137453	hsa-miR-4514	CLIP-seq
MIRT2137454	hsa-miR-4645-5p	CLIP-seq
MIRT2137455	hsa-miR-4659a-3p	CLIP-seq
MIRT2137456	hsa-miR-4659b-3p	CLIP-seq
MIRT2137457	hsa-miR-4667-3p	CLIP-seq
MIRT1458078	hsa-miR-4672	CLIP-seq
MIRT2137458	hsa-miR-4673	CLIP-seq
MIRT2137459	hsa-miR-4689	CLIP-seq
MIRT2137460	hsa-miR-4692	CLIP-seq
MIRT2137461	hsa-miR-4704-3p	CLIP-seq
MIRT2137462	hsa-miR-4713-5p	CLIP-seq
MIRT2137463	hsa-miR-4727-3p	CLIP-seq
MIRT2137464	hsa-miR-4727-5p	CLIP-seq
MIRT2137465	hsa-miR-4731-3p	CLIP-seq
MIRT2137466	hsa-miR-4733-3p	CLIP-seq
MIRT2137467	hsa-miR-4740-5p	CLIP-seq
MIRT2137468	hsa-miR-4755-5p	CLIP-seq
MIRT1458119	hsa-miR-4757-5p	CLIP-seq
MIRT2137469	hsa-miR-4769-3p	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT1458085	hsa-miR-4776-3p	CLIP-seq
MIRT2137471	hsa-miR-4780	CLIP-seq
MIRT2137472	hsa-miR-4784	CLIP-seq
MIRT2137473	hsa-miR-4789-5p	CLIP-seq
MIRT2137474	hsa-miR-4801	CLIP-seq
MIRT2137475	hsa-miR-483-3p	CLIP-seq
MIRT2137476	hsa-miR-486-3p	CLIP-seq
MIRT2137477	hsa-miR-489	CLIP-seq
MIRT2137478	hsa-miR-497	CLIP-seq
MIRT2137479	hsa-miR-499a-5p	CLIP-seq
MIRT1458122	hsa-miR-513a-3p	CLIP-seq
MIRT2137480	hsa-miR-513b	CLIP-seq
MIRT2137481	hsa-miR-515-5p	CLIP-seq
MIRT2137482	hsa-miR-548aa	CLIP-seq
MIRT2137483	hsa-miR-548k	CLIP-seq
MIRT2137484	hsa-miR-548v	CLIP-seq
MIRT2137485	hsa-miR-591	CLIP-seq
MIRT2137486	hsa-miR-606	CLIP-seq
MIRT2137487	hsa-miR-623	CLIP-seq
MIRT2137488	hsa-miR-627	CLIP-seq
MIRT2137489	hsa-miR-635	CLIP-seq
MIRT2137490	hsa-miR-668	CLIP-seq
MIRT2137491	hsa-miR-940	CLIP-seq
MIRT2358159	hsa-let-7a	CLIP-seq
MIRT2358160	hsa-let-7b	CLIP-seq
MIRT2358161	hsa-let-7c	CLIP-seq
MIRT2358162	hsa-let-7d	CLIP-seq
MIRT2358163	hsa-let-7e	CLIP-seq
MIRT2358164	hsa-let-7f	CLIP-seq
MIRT2358165	hsa-let-7g	CLIP-seq
MIRT2358166	hsa-let-7i	CLIP-seq
MIRT1458051	hsa-miR-103a	CLIP-seq
MIRT1458052	hsa-miR-107	CLIP-seq
MIRT2358167	hsa-miR-10a	CLIP-seq
MIRT2358168	hsa-miR-10b	CLIP-seq
MIRT2358169	hsa-miR-1178	CLIP-seq
MIRT2137419	hsa-miR-1179	CLIP-seq
MIRT2358170	hsa-miR-1184	CLIP-seq
MIRT2358171	hsa-miR-1207-3p	CLIP-seq
MIRT2358172	hsa-miR-1226	CLIP-seq
MIRT2137422	hsa-miR-1228	CLIP-seq
MIRT1458054	hsa-miR-1237	CLIP-seq
MIRT2358173	hsa-miR-1243	CLIP-seq
MIRT2358174	hsa-miR-1245	CLIP-seq
MIRT1458055	hsa-miR-1248	CLIP-seq
MIRT2358175	hsa-miR-125a-3p	CLIP-seq
MIRT2358176	hsa-miR-1266	CLIP-seq
MIRT2358177	hsa-miR-1275	CLIP-seq
MIRT2358178	hsa-miR-128	CLIP-seq
MIRT2358179	hsa-miR-1286	CLIP-seq
MIRT2358180	hsa-miR-1288	CLIP-seq
MIRT2358181	hsa-miR-1296	CLIP-seq
MIRT1458056	hsa-miR-1301	CLIP-seq
MIRT2358182	hsa-miR-1302	CLIP-seq
MIRT1458097	hsa-miR-130a	CLIP-seq
MIRT1458098	hsa-miR-130b	CLIP-seq
MIRT2358183	hsa-miR-140-3p	CLIP-seq
MIRT2137424	hsa-miR-141	CLIP-seq
MIRT2358184	hsa-miR-1470	CLIP-seq
MIRT2358185	hsa-miR-154	CLIP-seq
MIRT2137425	hsa-miR-15a	CLIP-seq
MIRT2137426	hsa-miR-15b	CLIP-seq
MIRT2137427	hsa-miR-16	CLIP-seq
MIRT2358186	hsa-miR-185	CLIP-seq
MIRT1458057	hsa-miR-186	CLIP-seq
MIRT2358187	hsa-miR-18a	CLIP-seq
MIRT2358188	hsa-miR-18b	CLIP-seq
MIRT2358189	hsa-miR-1914	CLIP-seq
MIRT2137429	hsa-miR-195	CLIP-seq
MIRT2358190	hsa-miR-196a	CLIP-seq
MIRT2358191	hsa-miR-196b	CLIP-seq
MIRT2358192	hsa-miR-19a	CLIP-seq
MIRT2358193	hsa-miR-19b	CLIP-seq
MIRT2137430	hsa-miR-200a	CLIP-seq
MIRT1458058	hsa-miR-21	CLIP-seq
MIRT2358194	hsa-miR-2116	CLIP-seq
MIRT2137433	hsa-miR-221	CLIP-seq
MIRT2137434	hsa-miR-222	CLIP-seq
MIRT2358195	hsa-miR-2278	CLIP-seq
MIRT2358196	hsa-miR-27a	CLIP-seq
MIRT2358197	hsa-miR-27b	CLIP-seq
MIRT2358198	hsa-miR-2861	CLIP-seq
MIRT2358199	hsa-miR-2909	CLIP-seq
MIRT2358200	hsa-miR-29a	CLIP-seq
MIRT2358201	hsa-miR-29b	CLIP-seq
MIRT2358202	hsa-miR-29c	CLIP-seq
MIRT1458100	hsa-miR-301a	CLIP-seq
MIRT1458101	hsa-miR-301b	CLIP-seq
MIRT2358203	hsa-miR-3065-3p	CLIP-seq
MIRT2137436	hsa-miR-3065-5p	CLIP-seq
MIRT2358204	hsa-miR-30a	CLIP-seq
MIRT2358205	hsa-miR-30b	CLIP-seq
MIRT2358206	hsa-miR-30c	CLIP-seq
MIRT2358207	hsa-miR-30d	CLIP-seq
MIRT2358208	hsa-miR-30e	CLIP-seq
MIRT2358209	hsa-miR-3141	CLIP-seq
MIRT2137439	hsa-miR-3151	CLIP-seq
MIRT2358210	hsa-miR-3153	CLIP-seq
MIRT2137440	hsa-miR-3169	CLIP-seq
MIRT2358211	hsa-miR-3185	CLIP-seq
MIRT2358212	hsa-miR-3187-3p	CLIP-seq
MIRT1458103	hsa-miR-3189-3p	CLIP-seq
MIRT1458061	hsa-miR-320b	CLIP-seq
MIRT1458062	hsa-miR-320c	CLIP-seq
MIRT1458063	hsa-miR-320d	CLIP-seq
MIRT2358213	hsa-miR-323b-3p	CLIP-seq
MIRT2358214	hsa-miR-329	CLIP-seq
MIRT2358215	hsa-miR-331-5p	CLIP-seq
MIRT1458105	hsa-miR-335	CLIP-seq
MIRT2137442	hsa-miR-338-3p	CLIP-seq
MIRT2137443	hsa-miR-338-5p	CLIP-seq
MIRT2358216	hsa-miR-345	CLIP-seq
MIRT2358217	hsa-miR-3591-3p	CLIP-seq
MIRT2358218	hsa-miR-3613-3p	CLIP-seq
MIRT1458065	hsa-miR-361-5p	CLIP-seq
MIRT2358219	hsa-miR-3621	CLIP-seq
MIRT1458066	hsa-miR-3622b-5p	CLIP-seq
MIRT2358220	hsa-miR-362-3p	CLIP-seq
MIRT2358221	hsa-miR-3650	CLIP-seq
MIRT2358222	hsa-miR-3656	CLIP-seq
MIRT2358223	hsa-miR-3664-3p	CLIP-seq
MIRT1458107	hsa-miR-3666	CLIP-seq
MIRT2137446	hsa-miR-3692	CLIP-seq
MIRT2358224	hsa-miR-375	CLIP-seq
MIRT2358225	hsa-miR-384	CLIP-seq
MIRT2358226	hsa-miR-3925-3p	CLIP-seq
MIRT2358227	hsa-miR-3926	CLIP-seq
MIRT2358228	hsa-miR-3934	CLIP-seq
MIRT2358229	hsa-miR-3941	CLIP-seq
MIRT2358230	hsa-miR-3944-5p	CLIP-seq
MIRT1458109	hsa-miR-3974	CLIP-seq
MIRT2137450	hsa-miR-424	CLIP-seq
MIRT2358231	hsa-miR-4252	CLIP-seq
MIRT1458068	hsa-miR-4253	CLIP-seq
MIRT2358232	hsa-miR-4254	CLIP-seq
MIRT2358233	hsa-miR-4263	CLIP-seq
MIRT2358234	hsa-miR-4268	CLIP-seq
MIRT1458110	hsa-miR-4271	CLIP-seq
MIRT2358235	hsa-miR-4277	CLIP-seq
MIRT1458112	hsa-miR-4295	CLIP-seq
MIRT2358236	hsa-miR-4298	CLIP-seq
MIRT1458069	hsa-miR-4304	CLIP-seq
MIRT2358237	hsa-miR-4306	CLIP-seq
MIRT2358238	hsa-miR-4308	CLIP-seq
MIRT2137451	hsa-miR-4310	CLIP-seq
MIRT1458113	hsa-miR-4312	CLIP-seq
MIRT2358239	hsa-miR-4315	CLIP-seq
MIRT2358240	hsa-miR-4320	CLIP-seq
MIRT2358241	hsa-miR-4325	CLIP-seq
MIRT2358242	hsa-miR-4330	CLIP-seq
MIRT2358243	hsa-miR-4418	CLIP-seq
MIRT2358244	hsa-miR-4421	CLIP-seq
MIRT2358245	hsa-miR-4422	CLIP-seq
MIRT1458071	hsa-miR-4429	CLIP-seq
MIRT2358246	hsa-miR-4434	CLIP-seq
MIRT2358247	hsa-miR-4435	CLIP-seq
MIRT2358248	hsa-miR-4447	CLIP-seq
MIRT2358249	hsa-miR-4450	CLIP-seq
MIRT2358250	hsa-miR-4454	CLIP-seq
MIRT2358251	hsa-miR-4458	CLIP-seq
MIRT2358252	hsa-miR-4459	CLIP-seq
MIRT2358253	hsa-miR-4461	CLIP-seq
MIRT2137452	hsa-miR-4463	CLIP-seq
MIRT2358254	hsa-miR-4472	CLIP-seq
MIRT2358255	hsa-miR-4494	CLIP-seq
MIRT2358256	hsa-miR-4495	CLIP-seq
MIRT2358257	hsa-miR-4500	CLIP-seq
MIRT1458074	hsa-miR-450b-3p	CLIP-seq
MIRT2358258	hsa-miR-450b-5p	CLIP-seq
MIRT2358259	hsa-miR-4516	CLIP-seq
MIRT2358260	hsa-miR-4518	CLIP-seq
MIRT2358261	hsa-miR-4522	CLIP-seq
MIRT2358262	hsa-miR-4525	CLIP-seq
MIRT2358263	hsa-miR-4531	CLIP-seq
MIRT1458114	hsa-miR-454	CLIP-seq
MIRT1458075	hsa-miR-4643	CLIP-seq
MIRT2358264	hsa-miR-4644	CLIP-seq
MIRT2358265	hsa-miR-4653-3p	CLIP-seq
MIRT2358266	hsa-miR-4665-5p	CLIP-seq
MIRT2137457	hsa-miR-4667-3p	CLIP-seq
MIRT1458077	hsa-miR-4667-5p	CLIP-seq
MIRT2358267	hsa-miR-4671-3p	CLIP-seq
MIRT1458078	hsa-miR-4672	CLIP-seq
MIRT2358268	hsa-miR-4678	CLIP-seq
MIRT2358269	hsa-miR-4680-5p	CLIP-seq
MIRT2358270	hsa-miR-4693-3p	CLIP-seq
MIRT2358271	hsa-miR-4698	CLIP-seq
MIRT1458079	hsa-miR-4700-5p	CLIP-seq
MIRT2358272	hsa-miR-4701-5p	CLIP-seq
MIRT1458081	hsa-miR-4713-3p	CLIP-seq
MIRT1458083	hsa-miR-4717-3p	CLIP-seq
MIRT2358273	hsa-miR-4722-5p	CLIP-seq
MIRT2358274	hsa-miR-4723-5p	CLIP-seq
MIRT1458116	hsa-miR-4725-3p	CLIP-seq
MIRT2358275	hsa-miR-4725-5p	CLIP-seq
MIRT2137463	hsa-miR-4727-3p	CLIP-seq
MIRT2137464	hsa-miR-4727-5p	CLIP-seq
MIRT2137465	hsa-miR-4731-3p	CLIP-seq
MIRT2358276	hsa-miR-4735-3p	CLIP-seq
MIRT1458118	hsa-miR-4747-5p	CLIP-seq
MIRT1458119	hsa-miR-4757-5p	CLIP-seq
MIRT2358277	hsa-miR-4764-5p	CLIP-seq
MIRT2358278	hsa-miR-4766-5p	CLIP-seq
MIRT2137469	hsa-miR-4769-3p	CLIP-seq
MIRT2358279	hsa-miR-4771	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT2358280	hsa-miR-4782-5p	CLIP-seq
MIRT2137474	hsa-miR-4801	CLIP-seq
MIRT2358281	hsa-miR-4802-5p	CLIP-seq
MIRT2137476	hsa-miR-486-3p	CLIP-seq
MIRT2358282	hsa-miR-488	CLIP-seq
MIRT2137477	hsa-miR-489	CLIP-seq
MIRT2358283	hsa-miR-491-3p	CLIP-seq
MIRT2358284	hsa-miR-491-5p	CLIP-seq
MIRT1458121	hsa-miR-493	CLIP-seq
MIRT2137478	hsa-miR-497	CLIP-seq
MIRT2358285	hsa-miR-498	CLIP-seq
MIRT2137479	hsa-miR-499a-5p	CLIP-seq
MIRT2358286	hsa-miR-501-3p	CLIP-seq
MIRT2358287	hsa-miR-502-3p	CLIP-seq
MIRT2358288	hsa-miR-504	CLIP-seq
MIRT1458087	hsa-miR-5047	CLIP-seq
MIRT2358289	hsa-miR-509-3-5p	CLIP-seq
MIRT2358290	hsa-miR-509-5p	CLIP-seq
MIRT1458122	hsa-miR-513a-3p	CLIP-seq
MIRT2358291	hsa-miR-513a-5p	CLIP-seq
MIRT2137481	hsa-miR-515-5p	CLIP-seq
MIRT2358292	hsa-miR-516a-3p	CLIP-seq
MIRT2358293	hsa-miR-516b	CLIP-seq
MIRT1458123	hsa-miR-519a	CLIP-seq
MIRT1458124	hsa-miR-519b-3p	CLIP-seq
MIRT1458125	hsa-miR-519c-3p	CLIP-seq
MIRT1458126	hsa-miR-532-5p	CLIP-seq
MIRT2358294	hsa-miR-541	CLIP-seq
MIRT2358295	hsa-miR-544	CLIP-seq
MIRT2358296	hsa-miR-545	CLIP-seq
MIRT2137482	hsa-miR-548aa	CLIP-seq
MIRT2358297	hsa-miR-548ac	CLIP-seq
MIRT2358298	hsa-miR-548d-3p	CLIP-seq
MIRT2137483	hsa-miR-548k	CLIP-seq
MIRT2358299	hsa-miR-548s	CLIP-seq
MIRT2137484	hsa-miR-548v	CLIP-seq
MIRT2358300	hsa-miR-548z	CLIP-seq
MIRT2358301	hsa-miR-587	CLIP-seq
MIRT2358302	hsa-miR-588	CLIP-seq
MIRT1458088	hsa-miR-590-5p	CLIP-seq
MIRT2358303	hsa-miR-592	CLIP-seq
MIRT2358304	hsa-miR-597	CLIP-seq
MIRT1458089	hsa-miR-603	CLIP-seq
MIRT2358305	hsa-miR-625	CLIP-seq
MIRT2358306	hsa-miR-634	CLIP-seq
MIRT2137489	hsa-miR-635	CLIP-seq
MIRT1458090	hsa-miR-637	CLIP-seq
MIRT1458091	hsa-miR-638	CLIP-seq
MIRT2358307	hsa-miR-642a	CLIP-seq
MIRT2358308	hsa-miR-654-5p	CLIP-seq
MIRT1458093	hsa-miR-7	CLIP-seq
MIRT2358309	hsa-miR-764	CLIP-seq
MIRT2358310	hsa-miR-766	CLIP-seq
MIRT2358311	hsa-miR-767-5p	CLIP-seq
MIRT1458094	hsa-miR-769-3p	CLIP-seq
MIRT2358312	hsa-miR-922	CLIP-seq
MIRT2358313	hsa-miR-98	CLIP-seq
MIRT2396395	hsa-miR-1245b-3p	CLIP-seq
MIRT2137425	hsa-miR-15a	CLIP-seq
MIRT2137426	hsa-miR-15b	CLIP-seq
MIRT2137427	hsa-miR-16	CLIP-seq
MIRT2137429	hsa-miR-195	CLIP-seq
MIRT2358217	hsa-miR-3591-3p	CLIP-seq
MIRT2396396	hsa-miR-3622a-3p	CLIP-seq
MIRT2396397	hsa-miR-3622b-3p	CLIP-seq
MIRT2137450	hsa-miR-424	CLIP-seq
MIRT2137478	hsa-miR-497	CLIP-seq
MIRT2137479	hsa-miR-499a-5p	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT2358285	hsa-miR-498	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT2358285	hsa-miR-498	CLIP-seq
MIRT1458051	hsa-miR-103a	CLIP-seq
MIRT1458052	hsa-miR-107	CLIP-seq
MIRT2358169	hsa-miR-1178	CLIP-seq
MIRT2358170	hsa-miR-1184	CLIP-seq
MIRT2694215	hsa-miR-1193	CLIP-seq
MIRT2694216	hsa-miR-1207-5p	CLIP-seq
MIRT1458054	hsa-miR-1237	CLIP-seq
MIRT2358174	hsa-miR-1245	CLIP-seq
MIRT1458055	hsa-miR-1248	CLIP-seq
MIRT2694217	hsa-miR-1261	CLIP-seq
MIRT2694218	hsa-miR-1267	CLIP-seq
MIRT2694219	hsa-miR-1285	CLIP-seq
MIRT2694220	hsa-miR-1299	CLIP-seq
MIRT2358182	hsa-miR-1302	CLIP-seq
MIRT2694221	hsa-miR-132	CLIP-seq
MIRT2694222	hsa-miR-150	CLIP-seq
MIRT2137425	hsa-miR-15a	CLIP-seq
MIRT2137426	hsa-miR-15b	CLIP-seq
MIRT2137427	hsa-miR-16	CLIP-seq
MIRT2694223	hsa-miR-1910	CLIP-seq
MIRT2137428	hsa-miR-1912	CLIP-seq
MIRT2694224	hsa-miR-1913	CLIP-seq
MIRT2137429	hsa-miR-195	CLIP-seq
MIRT2358194	hsa-miR-2116	CLIP-seq
MIRT2694225	hsa-miR-212	CLIP-seq
MIRT2694226	hsa-miR-2392	CLIP-seq
MIRT2137435	hsa-miR-2681	CLIP-seq
MIRT2694227	hsa-miR-3120-3p	CLIP-seq
MIRT1458102	hsa-miR-3129-3p	CLIP-seq
MIRT2694228	hsa-miR-3130-5p	CLIP-seq
MIRT2694229	hsa-miR-3134	CLIP-seq
MIRT2694230	hsa-miR-3135	CLIP-seq
MIRT2694231	hsa-miR-3136-5p	CLIP-seq
MIRT2694232	hsa-miR-3147	CLIP-seq
MIRT2694233	hsa-miR-3150a-3p	CLIP-seq
MIRT2358210	hsa-miR-3153	CLIP-seq
MIRT2694234	hsa-miR-3160-3p	CLIP-seq
MIRT2694235	hsa-miR-3174	CLIP-seq
MIRT2694236	hsa-miR-3175	CLIP-seq
MIRT2694237	hsa-miR-3187-5p	CLIP-seq
MIRT2694238	hsa-miR-3200-5p	CLIP-seq
MIRT2694239	hsa-miR-324-3p	CLIP-seq
MIRT2694240	hsa-miR-331-3p	CLIP-seq
MIRT1458105	hsa-miR-335	CLIP-seq
MIRT2694241	hsa-miR-3529	CLIP-seq
MIRT2694242	hsa-miR-3605-5p	CLIP-seq
MIRT2694243	hsa-miR-3612	CLIP-seq
MIRT2694244	hsa-miR-3653	CLIP-seq
MIRT2694245	hsa-miR-3661	CLIP-seq
MIRT2694246	hsa-miR-3687	CLIP-seq
MIRT2694247	hsa-miR-379	CLIP-seq
MIRT2694248	hsa-miR-3912	CLIP-seq
MIRT2694249	hsa-miR-3927	CLIP-seq
MIRT2694250	hsa-miR-421	CLIP-seq
MIRT2137450	hsa-miR-424	CLIP-seq
MIRT2694251	hsa-miR-4257	CLIP-seq
MIRT2358233	hsa-miR-4263	CLIP-seq
MIRT2358234	hsa-miR-4268	CLIP-seq
MIRT2694252	hsa-miR-4273	CLIP-seq
MIRT2694253	hsa-miR-4292	CLIP-seq
MIRT2358236	hsa-miR-4298	CLIP-seq
MIRT2694254	hsa-miR-4303	CLIP-seq
MIRT2694255	hsa-miR-4328	CLIP-seq
MIRT1458070	hsa-miR-433	CLIP-seq
MIRT2358242	hsa-miR-4330	CLIP-seq
MIRT2358243	hsa-miR-4418	CLIP-seq
MIRT2694256	hsa-miR-4439	CLIP-seq
MIRT2694257	hsa-miR-4442	CLIP-seq
MIRT2694258	hsa-miR-4443	CLIP-seq
MIRT2694259	hsa-miR-4449	CLIP-seq
MIRT2694260	hsa-miR-4470	CLIP-seq
MIRT2694261	hsa-miR-4482	CLIP-seq
MIRT2358258	hsa-miR-450b-5p	CLIP-seq
MIRT2694262	hsa-miR-4513	CLIP-seq
MIRT2358261	hsa-miR-4522	CLIP-seq
MIRT2694263	hsa-miR-4529-5p	CLIP-seq
MIRT2694264	hsa-miR-4534	CLIP-seq
MIRT2694265	hsa-miR-4539	CLIP-seq
MIRT2694266	hsa-miR-4640-5p	CLIP-seq
MIRT2358265	hsa-miR-4653-3p	CLIP-seq
MIRT2137455	hsa-miR-4659a-3p	CLIP-seq
MIRT2137456	hsa-miR-4659b-3p	CLIP-seq
MIRT2694267	hsa-miR-4677-5p	CLIP-seq
MIRT2694268	hsa-miR-4688	CLIP-seq
MIRT2694269	hsa-miR-4703-3p	CLIP-seq
MIRT2137462	hsa-miR-4713-5p	CLIP-seq
MIRT1458083	hsa-miR-4717-3p	CLIP-seq
MIRT1458115	hsa-miR-4720-3p	CLIP-seq
MIRT2694270	hsa-miR-4726-5p	CLIP-seq
MIRT2137464	hsa-miR-4727-5p	CLIP-seq
MIRT1458117	hsa-miR-4733-5p	CLIP-seq
MIRT2694271	hsa-miR-4736	CLIP-seq
MIRT2694272	hsa-miR-4742-5p	CLIP-seq
MIRT2694273	hsa-miR-4761-5p	CLIP-seq
MIRT2694274	hsa-miR-4763-3p	CLIP-seq
MIRT2694275	hsa-miR-4764-3p	CLIP-seq
MIRT2137469	hsa-miR-4769-3p	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT2358280	hsa-miR-4782-5p	CLIP-seq
MIRT2694276	hsa-miR-4795-5p	CLIP-seq
MIRT2358281	hsa-miR-4802-5p	CLIP-seq
MIRT1458120	hsa-miR-4804-3p	CLIP-seq
MIRT2358282	hsa-miR-488	CLIP-seq
MIRT2358284	hsa-miR-491-5p	CLIP-seq
MIRT2137478	hsa-miR-497	CLIP-seq
MIRT2358285	hsa-miR-498	CLIP-seq
MIRT1458086	hsa-miR-500a	CLIP-seq
MIRT2694277	hsa-miR-508-3p	CLIP-seq
MIRT2694278	hsa-miR-508-5p	CLIP-seq
MIRT2358289	hsa-miR-509-3-5p	CLIP-seq
MIRT2358290	hsa-miR-509-5p	CLIP-seq
MIRT2694279	hsa-miR-5096	CLIP-seq
MIRT2358293	hsa-miR-516b	CLIP-seq
MIRT2694280	hsa-miR-532-3p	CLIP-seq
MIRT2694281	hsa-miR-543	CLIP-seq
MIRT2358296	hsa-miR-545	CLIP-seq
MIRT2137482	hsa-miR-548aa	CLIP-seq
MIRT2358301	hsa-miR-587	CLIP-seq
MIRT2137486	hsa-miR-606	CLIP-seq
MIRT2694282	hsa-miR-612	CLIP-seq
MIRT2137488	hsa-miR-627	CLIP-seq
MIRT2694283	hsa-miR-631	CLIP-seq
MIRT2694284	hsa-miR-650	CLIP-seq
MIRT2694285	hsa-miR-657	CLIP-seq
MIRT2694286	hsa-miR-924	CLIP-seq
MIRT2694287	hsa-miR-939	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
AR	Repression	21036700

Show/Hide all (74)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001952	Process	Regulation of cell-matrix adhesion	IMP	10806479
GO:0002250	Process	Adaptive immune response	IEA
GO:0005515	Function	Protein binding	IPI	9580671, 9809973, 10585443, 10806479, 12226091, 17355907, 17658474, 17693255, 18381890, 18692468, 20368287, 20412061, 21134130, 21653829, 25263562, 26893383, 28514442, 28561026, 33436626, 33961781, 38890443
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	9580671
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	24529379
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005811	Component	Lipid droplet	IDA
GO:0005829	Component	Cytosol	IDA	10585443, 24529379
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	IDA	10806479
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IDA	10806479
GO:0006457	Process	Protein folding	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0007160	Process	Cell-matrix adhesion	IMP	10806479
GO:0007399	Process	Nervous system development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	10915759
GO:0008306	Process	Associative learning	IEA
GO:0008344	Process	Adult locomotory behavior	ISS
GO:0009267	Process	Cellular response to starvation	IDA	24529379
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IDA	16636147
GO:0016020	Component	Membrane	IEA
GO:0016242	Process	Negative regulation of macroautophagy	ISS
GO:0021766	Process	Hippocampus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030027	Component	Lamellipodium	IDA	10806479
GO:0030030	Process	Cell projection organization	IEA
GO:0030544	Function	Hsp70 protein binding	IDA	29127155
GO:0032007	Process	Negative regulation of TOR signaling	IBA
GO:0032007	Process	Negative regulation of TOR signaling	IDA	22795129
GO:0032007	Process	Negative regulation of TOR signaling	IMP	17308101, 28215400
GO:0032007	Process	Negative regulation of TOR signaling	ISS
GO:0032780	Process	Negative regulation of ATP-dependent activity	IDA	29127155
GO:0032868	Process	Response to insulin	IDA	16996505
GO:0032991	Component	Protein-containing complex	IDA	10585443
GO:0033596	Component	TSC1-TSC2 complex	EXP	26893383
GO:0033596	Component	TSC1-TSC2 complex	IBA
GO:0033596	Component	TSC1-TSC2 complex	IDA	9580671, 12172553, 12842888, 12906785, 24529379, 33436626
GO:0033596	Component	TSC1-TSC2 complex	IPI	22795129
GO:0036064	Component	Ciliary basal body	IDA
GO:0036294	Process	Cellular response to decreased oxygen levels	ISS
GO:0038202	Process	TORC1 signaling	IDA	12087098
GO:0042030	Function	ATPase inhibitor activity	IDA	29127155
GO:0042030	Function	ATPase inhibitor activity	IEA
GO:0042552	Process	Myelination	IEA
GO:0043379	Process	Memory T cell differentiation	IEA
GO:0044183	Function	Protein folding chaperone	IDA	10585443
GO:0045792	Process	Negative regulation of cell size	IEA
GO:0046323	Process	D-glucose import	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0050808	Process	Synapse organization	IEA
GO:0050821	Process	Protein stabilization	IDA	11175345
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IMP	29127155
GO:0051087	Function	Protein-folding chaperone binding	IPI	10585443
GO:0051492	Process	Regulation of stress fiber assembly	IDA	10806479
GO:0051726	Process	Regulation of cell cycle	IBA
GO:0051879	Function	Hsp90 protein binding	IPI	29127155
GO:0051894	Process	Positive regulation of focal adhesion assembly	IDA	10806479
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0090630	Process	Activation of GTPase activity	IDA	10806479
GO:0101031	Component	Protein folding chaperone complex	IDA	29127155
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	12172553, 12842888, 12906785, 24529379
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	12172553

MIM	HGNC	e!Ensembl
605284	12362	ENSG00000165699

Q92574

Protein name

Hamartin (Tuberous sclerosis 1 protein)

Protein function

Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule bi

PDB

4Z6Y , 5EJC , 7DL2 , 9C9I , 9CE3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04388	Hamartin	7 → 719	Hamartin protein	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney (PubMed:9242607). Also expressed in embryonic kidney cells (PubMed:9242607). {ECO:0000269|PubMed:9242607}.

Sequence

MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHI
LTTLQEPHDKHLLDRINEYVGKAATRLSILSLLGHVIRLQPSWKHKLSQAPLLPSLLKCL
KMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL
HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDH
ELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQISARFPHRSADVTTSPYADT
QNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPSTRLITEPPQATLWSPSMVCGMTTPPT
SPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPATSPPPAPLCHSDDYVHISLPQATVTPPR
KEERMDSARPCLHRQHHLLNDRGSEEPPGSKGSVTLSDLPGFLGDLASEEDSIEKDKEEA
AISRELSEITTAEAEPVVPRGGFDSPFYRDSLPGSQRKTHSAASSSQGASVNPEPLHSSL
DKLGPDTPKQAFTPIDLPCGSADESPAGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQ
PPPYDHLFEVALPKTAHHFVIRKTEELLKKAKGNTEEDGVPSTSPMEVLDRLIQQGADAH
SKELNKLPLPSKSVDWTHFGGSPPSDEIRTLRDQLLLLHNQLLYERFKRQQHALRNRRLL
RKVIKAAALEEHNAAMKDQLKLQEKDIQMWKVSLQKEQARYNQLQEQRDTMVTKLHSQIR
QLQHDREEFYNQSQELQTKLEDCRNMIAELRIELKKANNKVCHTELLLSQVSQKLSNSES
VQQQMEFLNRQLLVLGEVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQ
RLDTSQKRILELESHLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFEL
EILDLYGRLEKDGLLKKLEEEKAEAAEAAEERLDCCNDGCSDSMVGHNEEASGHNGETKT
PRPSSARGSSGSRGGGGSSSSSSELSTPEKPPHQRAGPFSSRWETTMGEASASIPTTVGS
LPSSKSFLGMKARELFRNKSESQCDEDGMTSSLSESLKTELGKDLGVEAKIPLNLDGPHP
SPPTPDSVGQLHIMDYNETHHEHS

Sequence length

1164

Interactions

View interactions

	KEGG		Reactome
	Phospholipase D signaling pathway Autophagy - animal mTOR signaling pathway PI3K-Akt signaling pathway AMPK signaling pathway Longevity regulating pathway Cellular senescence Thermogenesis Insulin signaling pathway Human cytomegalovirus infection Human papillomavirus infection Herpes simplex virus 1 infection Choline metabolism in cancer		Macroautophagy Inhibition of TSC complex formation by PKB Energy dependent regulation of mTOR by LKB1-AMPK TP53 Regulates Metabolic Genes TBC/RABGAPs

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

Show/Hide Causal Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenoma sebaceum	Likely pathogenic	rs1057518945	RCV000415178	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant epilepsy	Likely pathogenic	rs2538620466	RCV003156201	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac rhabdomyoma	Pathogenic	rs118203682	RCV000415379	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangiocarcinoma	Pathogenic	rs118203717	RCV005937414	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs118203422	RCV005890296	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cortical dysplasia	Pathogenic	rs118203478	RCV000414909	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cortical tubers	Likely pathogenic; Pathogenic	rs1057518945, rs118203707	RCV000415178 RCV000415443	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs118203717	RCV005937413	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hamartoma	Pathogenic	rs118203682	RCV000415379	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2131806725, rs2131685383, rs2132161155, rs2132219029, rs2539041649, rs2538834207, rs2538885807, rs2538714375, rs2538747859, rs2538656824, rs2538616111, rs2539075137, rs2131728806, rs2131628564, rs2538550958 View all (65 more)	RCV002420854 RCV002432071 RCV003375275 RCV005301140 RCV002359474 View all (77 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated focal cortical dysplasia type II	Likely pathogenic; Pathogenic	rs2539143887, rs1064793494, rs2131883421, rs1064794132, rs1064795285, rs118203485, rs118203527, rs118203537, rs118203542, rs118203628, rs118203631, rs118203632, rs118203645, rs118203680, rs118203682 View all (6 more)	RCV003459791 RCV003464703 RCV003466459 RCV004568170 RCV005044725 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphangiomyomatosis	Pathogenic; Likely pathogenic	rs118203388, rs1064795285, rs118203485, rs118203527, rs118203537, rs118203542, rs118203631, rs118203632, rs118203353, rs118203680, rs118203682, rs118203707, rs118203387, rs118203427, rs118203461 View all (8 more)	RCV000005408 RCV005044725 RCV002477137 RCV005042123 RCV001199095 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Pathogenic; Likely pathogenic	rs2131972870, rs397514822, rs1554816432, rs1447417010, rs1554815054, rs1554813331, rs118203491, rs118203542, rs118203549, rs118203343, rs118203599, rs118203631, rs118203661, rs118203700, rs118203419 View all (3 more)	RCV003332343 RCV005939150 RCV005901162 RCV003332194 RCV003332210 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple renal cysts	Pathogenic	rs118203707	RCV000415443	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs1846671628	RCV006274179	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs118203485	RCV005924109	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal cortical cysts	Pathogenic	rs118203478	RCV000414909	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal insufficiency	Pathogenic	rs118203478	RCV000414909	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs118203388	RCV005887307	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs118203682, rs118203707	RCV000415379 RCV000415443	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs118203348	RCV005931027	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TSC1-related disorder	Likely pathogenic; Pathogenic	rs2538885807, rs2131628564, rs118203597, rs2538766989, rs118203468, rs2538736435, rs2538619028, rs2538742469, rs1447417010, rs118203542, rs118203620, rs118203675, rs118203382, rs1846020610	RCV004725264 RCV003984262 RCV004797756 RCV003397702 RCV003420893 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tuberous sclerosis 1	Likely pathogenic; Pathogenic	rs1845724649, rs2131806725, rs1554819620, rs2131685383, rs2131687967, rs2131741904, rs2131764067, rs2131765460, rs2131773288, rs2131814973, rs2131816800, rs2131823012, rs2131850310, rs2131880971, rs2131943046 View all (448 more)	RCV001328534 RCV001377906 RCV001378275 RCV001385425 RCV001380315 View all (493 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tuberous sclerosis syndrome	Pathogenic; Likely pathogenic	rs2131863156, rs2131628564, rs118203595, rs118203447, rs118203597, rs118203426, rs118203396, rs118203506, rs118203726, rs118203544, rs2538894614, rs2131806725, rs118203717, rs1845156018, rs1554816432 View all (159 more)	RCV004010875 RCV004007453 RCV000042099 RCV000042356 RCV000042102 View all (185 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs118203717	RCV005937415	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (49)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angiofibromas	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOGENIC WEST SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FOCAL CORTICAL DYSPLASIA OF TAYLOR	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal cortical dysplasia of Taylor type 2B	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA, TYPE II	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney angiomyolipoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney failure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung lymphangioleiomyomatosis	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primitive neuroectodermal tumor	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALAAM SEIZURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBEROUS SCLEROSIS	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBEROUS SCLEROSIS COMPLEX	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (367)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acoustic Neuroma	Acoustic Neuroma	BEFREE	28265819, 28283837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Action Myoclonus-Renal Failure Syndrome	Action Myoclonus-Renal Failure Syndrome	CTD_human_DG	17484760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	19250671, 19286253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	17003820, 25476905, 27289491, 28065512, 31619031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11696455, 15541811, 28302097, 9699531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18413730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	11696455, 15541811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15565817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	33626208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	ORPHANET_DG	27974549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult hepatocellular carcinoma	Liver carcinoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30305629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37440991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	30220708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	16965334, 18835623, 24558502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	10934115, 18988705, 25782670, 26434588, 27494029, 27907099, 30036593, 31619031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30305629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17468934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	17139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15072102, 29196670, 7849708		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	LHGDN	15072102, 15624760		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	20133820, 27625244, 32461669, 33051600	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17468934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31742849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Inclusion-Body Disease	Inclusion-Body Disease	CTD_human_DG	17484760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21403110, 22558107, 30705255, 31591157, 31921404, 37880800	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21079609, 21115397, 26393489, 27263037, 30636904, 30705255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	LHGDN	14985384		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18067135		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	21345208, 22558107, 23205844, 25160545	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	27263037, 9813776		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	15785425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	12112044, 21062901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	18413730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	16624901, 21428921, 27871249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	23851963	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10353610, 11329144, 11921286, 12773163, 12853839, 14633685, 16713332, 18397877, 18480009, 23401075, 26921394, 27225870, 27352265, 29669930, 31506280, 31645902 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	12773163, 12853839, 14633685, 18397877, 18480009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	30220708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27406250, 34130600	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	37423059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15951164, 16713332, 20658316, 26167915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20658316, 26167915	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20658316, 22562547, 28027327, 31704974, 36539038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Leukemia	Burkitt`s Lymphoma	BEFREE	8386576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	30237309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18413730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10029074, 10222155, 11753085, 31420607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	23778141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	20658316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25526364, 30373752, 37769223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	36602798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10353610, 11329144, 12773163, 14633685, 16713332, 18397877, 18480009, 23401075, 26921394, 27225870, 27352265, 29669930, 31506280, 31645902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18728656, 19966866, 20095038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24821879, 28626070, 29941307, 29975249, 30303819, 31975504, 37964489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24593867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	18397877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16713332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac rhabdomyoma	Cardiac rhabdomyoma	BEFREE	29642139		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac rhabdomyoma	Cardiac rhabdomyoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood Ganglioglioma	Ganglioglioma	BEFREE	29687738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24563076	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chordoma	Chordoma	Pubtator	19401700, 21266383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	21266383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chylopericardium	Chylopericardium	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19008175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	18067135		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	20622004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35572821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24770722, 29448085, 30174443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20622004, 22363125, 34315829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	22729192, 27545497, 27896895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital macrodactylia	Congenital macrodactylia	BEFREE	27112935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital macrodactylia	Congenital macrodactylia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12686801, 15579029, 15856327, 21075312, 21228928, 27453294, 27748010, 27845047, 29941307, 29975249, 31155438, 31335987, 8592324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	11112665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptogenic Infantile Spasms	Cryptogenic West syndrome	CTD_human_DG	18345974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	BEFREE	17139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	30696882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29329496, 29991473, 30408629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	CTD_human_DG	17484760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32461669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30684133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30684133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31235817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	21062901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26758984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	11696455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	30220708, 30911571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	21555252, 24917535, 30911571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11749114, 12040899, 12185771, 16042315, 19694899, 20358377, 22025691, 25030328, 25452577, 25498131, 26873267, 27859028, 27993420, 28529525, 29023667 View all (7 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	CTD_human_DG	12112044, 21062901		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	23205844, 28892148, 30185235, 30911571, 31591157, 32313033, 34252879, 34417327, 35961105, 40665309	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	12112044, 21062901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	19692352, 29483507, 29897930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	11812941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	18413730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	18413730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	18413730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15824464, 17997379, 23079845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Progressive Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	17484760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	18439583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	CTD_human_DG	18345974, 21062901, 21345208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	12112044, 19175396, 28215400, 28762286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	15221338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	19175396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	BEFREE	12112044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	GENOMICS_ENGLAND_DG	12112044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	CTD_human_DG	12112044, 28215400		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	18368626, 35961105	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	UNIPROT_DG	28215400		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal Cortical Dysplasia of Taylor, Type IIa	Focal cortical dysplasia	CTD_human_DG	12112044, 28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia of Taylor, Type IIb	Focal cortical dysplasia	CTD_human_DG	12112044, 28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34130600, 36469115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	16713332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	11437991, 29687738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	BEFREE	28777148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	33879132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	28646232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	12008755, 8865231, 9596079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11170177, 30528355, 31258848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11170177, 30528355, 31258848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18759130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar Syndrome	BEFREE	17139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	10205261, 11438694, 11468687, 12202993, 14508401, 15261137, 15888477, 18958173, 20146692, 20526286, 21428921, 23661441, 24105488, 24737435, 7849708 View all (7 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	15565817, 15611656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	16412252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31742849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Neoplasm	Cardiac Neoplasms	LHGDN	16940165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	11438694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	15221338, 17483958, 26231267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	31444548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HIP DYSPLASIA, BEUKES TYPE	Hip Dysplasia	BEFREE	27871249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	25889454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	25889454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	20526286, 30794603, 34730894	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11564973, 15309683, 21644207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	25209900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18992848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	11579436, 25498131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	15380067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	11112665, 25160545, 31005478, 31591157, 32313033, 37880800	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	24917535, 26408672, 29073472, 29653868, 29740858, 31005478, 9328481, 9813776, 9924605		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Atresia Multiple	Multiple intestinal atresia	Pubtator	40624119	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28587396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	28887784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated focal cortical dysplasia type IIb	Isolated focal cortical dysplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jackknife Seizures	Jackknife Seizures	CTD_human_DG	18345974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	21559457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	29261847		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Keratoconus	Keratoconus	Pubtator	29261847, 37990318	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Diseases	Kidney disease	Pubtator	11112665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15856327, 9874854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	15257730		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	30185506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	11438694, 15662135, 19143643, 19602587, 30760873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23038766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	17304050		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	21243421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20498439, 25476905, 40377620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17003820, 19092854, 25476905, 27289491, 28065512, 31619031, 31751472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	9761305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21499249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25526364, 27974549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19008175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	28302097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19143643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	19596836, 27871249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	30279475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	GENOMICS_ENGLAND_DG	10069705, 12112044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	10823953, 10934115, 11208653, 11406664, 11564212, 11829138, 15257730, 16388022, 17099139, 17541983, 18408969, 18988705, 19143643, 19395678, 19419980 View all (25 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	ORPHANET_DG	17541983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	28079897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	16042315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	LHGDN	18368626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	27519418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15951164, 16713332, 20658316, 26167915, 29808317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	18413730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	11753085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18728656, 19966866, 20095038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	18538015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16713332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29089812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10353610, 11329144, 12773163, 14633685, 16713332, 18397877, 18480009, 22923433, 23401075, 24929024, 26921394, 27225870, 27352265, 29669930, 31506280, 31645902 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11603814, 12686801, 12773163, 14508401, 18480009, 19648120, 20054236, 25578782, 26655088, 27061015, 27748010, 28202529, 28550454, 29941343, 29980790, 30237309, 30684133, 31207499, 9874854 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	28991373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	35458174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15951164		★★★★★ ★☆☆☆☆ Found in Text Mining only
May-White Syndrome	May-White Syndrome	CTD_human_DG	17484760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21042217		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28302097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28302097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	29073472, 29653868, 29740858, 9328481, 9813776, 9924605		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	23851502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	18538015		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
mucosal melanoma	Mucosal Melanoma	BEFREE	29185092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple fibrofolliculomas	Multiple Fibrofolliculomas	BEFREE	27871249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25915427, 31338886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30396185	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	BEFREE	15257730		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple renal cysts	Multiple renal cysts	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CTD_human_DG	17484760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	36719021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10205261, 10349994, 10353610, 10534239, 10759551, 10807585, 11129334, 11290735, 11397651, 11437991, 11438694, 11468687, 11564212, 11696455, 11920732 View all (81 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	22791573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29975249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	16042315, 28127866, 29230685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30808980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	22752306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	31921404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodding spasm	Spasmus nutans	CTD_human_DG	18345974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22125081, 29853949, 30001482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28445147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	20658316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Nerve Glioma	Optic Nerve Glioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	17139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29358671, 31088250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	29358671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	16713332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	19843540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33560870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25425965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31160355, 36261830, 38203311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	30362515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periungual fibroma	Periungual Fibroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	18080139, 18085521, 20048174, 27871249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30705255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	15565817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	29145046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	16909113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	15785425, 21075312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	15785425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	19843540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	15178220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32264916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteus Syndrome	Proteus Syndrome	BEFREE	17483958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26382847, 28041914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary lymphangiomyomatosis	Pulmonary lymphangiomyomatosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	20622004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	20622004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	11753085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10029074, 12686801, 14990989, 15579029, 15856327, 15888477, 21075312, 21228928, 27453294, 27748010, 29941307, 29975249, 31155438, 31335987, 8592324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31235817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	33727259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal hamartoma	Retinal hamartoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	27516389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	39451177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	10340649, 16877242, 16940165, 24884933, 29877000, 30279084, 31032681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	Pubtator	10340649, 29877000, 34480426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	CTD_human_DG	18345974		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salaam Seizures	Salaam Seizures	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	11112665, 19133941, 32461669, 9989450	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	10570911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shagreen patch	Shagreen patch	BEFREE	28771801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shagreen patch	Shagreen patch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	18835623, 28623545, 29080681, 29740858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	31114024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31605778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	24593867, 24978188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	BEFREE	30816216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	18801034, 36279597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
spasmus nutans	Spasmus nutans	CTD_human_DG	18345974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18538015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18538015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	18538015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18538015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	26231267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12174360, 27156070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	29230685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	BEFREE	21042217, 21224066, 24507694, 27860334, 31258848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sweat Gland Neoplasms	Sweat gland neoplasm	Pubtator	33515627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Symptomatic Infantile Spasms	Symptomatic West syndrome	CTD_human_DG	18345974		★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	14633685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	25451314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29089812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29089812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	28646232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	28978585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	14633685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	17139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	BEFREE	28646232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	16470587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	10090883, 10227394, 10340649, 11068191, 11112665, 11468687, 11710839, 12271141, 12582162, 1427899, 15150271, 15340059, 15380067, 16192644, 16624901 View all (121 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	10205261, 10227394, 10340649, 10349994, 10533066, 10533067, 10533069, 10534239, 10570911, 10607950, 10732801, 10807585, 10874311, 10942116, 11112665 View all (295 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tuberous Sclerosis	Tuberous Sclerosis	GENOMICS_ENGLAND_DG	10227394, 17304050		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tuberous Sclerosis	Tuberous Sclerosis	CLINGEN_DG	10349994, 11170177, 15888477, 27425891, 9242607, 9863590		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tuberous Sclerosis	Tuberous Sclerosis	LHGDN	12015165, 12062115, 12773162, 14756965, 15072102, 15477556, 16258273, 16339216, 17273797, 17355907, 17376623, 18368626		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	12867426, 12906785, 18368626, 20498439, 27918305, 31834371	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tuberous Sclerosis	Tuberous Sclerosis	CTD_human_DG	18345974, 21062901, 21345208		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	10227394, 18397877	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	22301052	Inhibit	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	GENOMICS_ENGLAND_DG	10069705, 10227394, 12112044, 15331184, 17304050, 23788249, 9242607		★★★★★ ★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	UNIPROT_DG	10227394, 10533069, 10570911, 10874311, 11829138, 18830229, 22161988, 9328481		★★★★★ ★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	CLINGEN_DG	10349994, 11170177, 15888477, 27425891, 9242607, 9863590		★★★★★ ★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	10759551, 11348592, 14999811, 21224066, 22916036, 30745581, 31136458, 8755927, 9924605		★★★★★ ★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 2	Tuberous sclerosis complex	Pubtator	33180365	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	10533067, 11129334, 11438694, 11741832, 11781698, 12172553, 12364343, 12773161, 14651849, 15102439, 15175323, 15261137, 15340059, 15483652, 15611656 View all (15 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous sclerosis complex	Tuberous Sclerosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMOR PREDISPOSITION SYNDROME	TUMOR PREDISPOSITION SYNDROME	BEFREE	22791333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30082707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18397877, 22923433, 27270441, 31393349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	18439583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	28215400		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	11579436, 25498131		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	LHGDN	14985384		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	CTD_human_DG	18345974		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	BEFREE	17139695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TSC1 (TSC complex subunit 1)