TSC1 (TSC complex subunit 1)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 7248
• Gene name: TSC complex subunit 1
• Gene symbol: TSC1
• Synonyms (NCBI Gene): LAM, TSC
• 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

SNPs Show/Hide all (265)

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

miRNA Show/Hide all (585)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006630	hsa-miR-32-5p	Luciferase reporter assay, qRT-PCR, Western 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-PCR, Western blot	26458815
MIRT735632	hsa-miR-451a	Flow, Luciferase reporter assay, qRT-PCR, Western blot	25915427
MIRT735632	hsa-miR-451a	Luciferase reporter assay, Western blotting, qRT-PCR	32013265
MIRT726227	hsa-miR-92b-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (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

Transcription factors

Transcription factor	Regulation	Reference
AR	Repression	21036700

Gene ontology (GO) 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

Other IDs

• MIM: 605284
• HGNC: 12362
• e!Ensembl: ENSG00000165699

Protein

• UniProt ID: 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

Pathways

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

Associated diseases

Evidence Score:

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

Causal Show/Hide Causal Diseases (25)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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, rs1845135625, rs118203597, rs118203506, rs2539113178, rs2539143887, rs2132149285, rs2538827659, rs886039662, rs2538897097, rs118203348, rs2538894012, rs2538869694, rs1064794132, rs1114167619, rs1114167620, rs1554819932, rs1554815889, rs1554813331, rs118203717, rs1564497308, rs118203485, rs118203491, rs118203509, rs118203527, rs118203537, rs118203542, rs118203564, rs118203603, rs75820036, rs118203606, rs118203620, rs118203625, rs118203624, rs118203627, rs118203631, rs118203645, rs118203661, rs118203668, rs118203680, rs118203682, rs118203706, rs118203724, rs118203727, rs118203728, rs118203365, rs118203378, rs118203403, rs118203407, rs118203422, rs118203427, rs118203434, rs118203439, rs118203451, rs118203477, rs118203478, rs397514776, rs397514784, rs397514795, rs397514871, rs118203438, rs1588290078, rs1588297391, rs118203370, rs1846020610, rs1846671628	RCV002420854 RCV002432071 RCV003375275 RCV005301140 RCV002359474 RCV002338320 RCV002378746 RCV002410267 RCV002396853 RCV002422303 RCV002446004 RCV002426470 RCV002457807 RCV002435019 RCV002433264 RCV002441721 RCV003162210 RCV006292236 RCV004948804 RCV003168067 RCV003176676 RCV003176677 RCV002429196 RCV003296842 RCV003296846 RCV004525403 RCV004525410 RCV000565398 RCV000491561 RCV000491175 RCV000491000 RCV002404708 RCV004678786 RCV003163230 RCV002386267 RCV004018918 RCV003372612 RCV004678602 RCV002371858 RCV004948150 RCV002390180 RCV002390181 RCV000491128 RCV005298439 RCV002415486 RCV002415487 RCV005502743 RCV002415488 RCV002415489 RCV000568333 RCV002415490 RCV005502744 RCV006287149 RCV005502745 RCV002426584 RCV000491852 RCV001015787 RCV001016278 RCV000490863 RCV000491065 RCV005502746 RCV004948151 RCV005502747 RCV004018919 RCV002362663 RCV004018920 RCV000491872 RCV000561720 RCV000130030 RCV000491469 RCV000491374 RCV004018978 RCV006287157 RCV006287158 RCV002426611 RCV002381356 RCV001016672 RCV001015906 RCV001020781 RCV005298683 RCV004679020 RCV002339713	★★★★★ 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, rs118203707, rs118203427, rs1564488264, rs397514862, rs397514879, rs1846010451	RCV003459791 RCV003464703 RCV003466459 RCV004568170 RCV005044725 RCV002477137 RCV005042123 RCV004795960 RCV000515319 RCV003460554 RCV000763190 RCV005049409 RCV003460555 RCV002054843 RCV005042125 RCV005394245 RCV000515416 RCV000768346 RCV002496733 RCV002496734 RCV002497782	★★★★★ 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, rs1564488264, rs1588309702, rs397514780, rs397514862, rs397514879, rs1845446236, rs1845615656, rs1846010451	RCV000005408 RCV005044725 RCV002477137 RCV005042123 RCV001199095 RCV000515319 RCV000763190 RCV005049409 RCV005890295 RCV002054843 RCV005042125 RCV001198554 RCV000042297 RCV000515416 RCV000054984 RCV000768346 RCV001292920 RCV001333395 RCV002496733 RCV002496734 RCV001198227 RCV001198651 RCV002497782	★★★★★ 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, rs118203423, rs1588310754, rs397514789	RCV003332343 RCV005939150 RCV005901162 RCV003332194 RCV003332210 RCV003332218 RCV000041982 RCV000055036 RCV000054972 RCV000054965 RCV000054920 RCV000054891 RCV003332093 RCV003332094 RCV000042329 RCV000042333 RCV003332259 RCV000054918	★★★★★ 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 RCV003982620 RCV003894472 RCV003911593 RCV003403292 RCV004745177 RCV003390732 RCV003915004 RCV003894875 RCV004746218	★★★★★ 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, rs2131972870, rs2131980428, rs118203470, rs2132157980, rs2132161155, rs2132191512, rs2132191644, rs2132191990, rs2132230501, rs2132230601, rs2132266748, rs2132297010, rs2131704033, rs118203398, rs118203705, rs2131946983, rs2131975092, rs2132187252, rs2131774414, rs2131809131, rs118203562, rs2132269239, rs118203367, rs2131811032, rs2131734694, rs2131863156, rs118203376, rs118203374, rs2131687509, rs2131637455, rs1564490210, rs1158059433, rs2131811653, rs2131817146, rs886041684, rs2131965369, rs2131633443, rs2132156045, rs2131760465, rs2131785934, rs2132234958, rs2132185885, rs2131833003, rs1166302175, rs2131637518, rs2131639772, rs2131963896, rs2131710574, rs2131865150, rs2131827015, rs2131813354, rs2131786544, rs2131786241, rs2131739882, rs2132004661, rs2132189676, rs2132268804, rs1393065957, rs2132134052, rs2131818738, rs2131943928, rs2132161209, rs2131945572, rs118203485, rs2131812351, rs2132157246, rs118203610, rs2131687178, rs2131821679, rs118203407, rs2132219029, rs2131822866, rs2538621965, rs2538623662, rs2539014270, rs2538656659, rs2538865020, rs794727320, rs2538783712, rs118203595, rs118203447, rs118203597, rs118203426, rs118203396, rs118203506, rs796053464, rs2538498222, rs2538728595, rs2538624115, rs397514823, rs2538715524, rs2539113178, rs2539077898, rs1845500801, rs118203399, rs2538651561, rs2539070826, rs2538679004, rs2538658112, rs2538483320, rs2538621161, rs1845728736, rs2538718859, rs2539071725, rs2538730433, rs2538658686, rs878853968, rs2538495264, rs2538653415, rs2538699490, rs2539042877, rs2131844956, rs2538871513, rs118203726, rs2538481248, rs2539112315, rs2538490493, rs2539074367, rs2538701649, rs118203413, rs2538733599, rs2539142669, rs776633158, rs2538659131, rs118203544, rs2538652467, rs886039662, rs886041538, rs118203440, rs886041959, rs2538653013, rs2538574778, rs2538579287, rs1564487289, rs2539147032, rs2539114415, rs2538615068, rs2539115108, rs2538495135, rs2538746576, rs2538626665, rs2538885807, rs2538889832, rs2539017529, rs2539040580, rs2538655091, rs2538609351, rs118203694, rs1846671274, rs2539071463, rs2538706532, rs2538496745, rs2538571936, rs118203352, rs2538739746, rs2538477691, rs2132148804, rs2538658624, rs2538618528, rs1169898186, rs2538658265, rs2131832036, rs2538735165, rs118203553, rs2538653190, rs2538614714, rs2538548937, rs2538734048, rs2538572119, rs2538577965, rs2132269028, rs2539041175, rs2538693976, rs2538734736, rs1060503224, rs2539111893, rs2538865859, rs118203348, rs2538580044, rs2539144261, rs2538772333, rs2538772369, rs2539077688, rs572899352, rs2538867899, rs2539078435, rs2539145187, rs2539073996, rs2538705379, rs2538846534, rs2539014505, rs2538894343, rs2538550854, rs2538892559, rs2131957828, rs2539110399, rs2538619323, rs2539142428, rs1564475110, rs397514822, rs2131710621, rs2539017364, rs1057518217, rs1057519319, rs1057520444, rs1060503210, rs1060503213, rs118203369, rs1554814935, rs1064794132, rs1554816245, rs1064795285, rs1064793844, rs1064793494, rs1114167619, rs1554816432, rs1554817227, rs1554819509, rs1554819870, rs1554821022, rs1554815049, rs1554815454, rs1554815829, rs1064796237, rs1554817707, rs1447417010, rs1554815246, rs1554817612, rs781371665, rs1554815054, rs1554817140, rs1554817259, rs1554817691, rs1554815856, rs1554816076, rs1554816394, rs118203504, rs1554817222, rs1554820976, rs1554815828, rs1554817344, rs1554817388, rs1554817676, rs1564481122, rs118203717, rs1564475884, rs1564482288, rs1564488810, rs1564504869, rs1564474542, rs1564474974, rs1564478705, rs1564480935, rs1564482622, rs1564488773, rs1564497308, rs118203481, rs118203486, rs118203491, rs118203494, rs118203509, rs118203510, rs118203523, rs118203525, rs118203527, rs118203531, rs118203537, rs118203542, rs118203549, rs118203550, rs118203343, rs118203557, rs118203563, rs118203564, rs118203587, rs118203345, rs118203599, rs118203603, rs75820036, rs118203606, rs118203614, rs118203617, rs118203619, rs118203621, rs118203627, rs118203631, rs118203632, rs118203633, rs118203353, rs118203645, rs118203646, rs118203647, rs118203650, rs118203354, rs118203661, rs118203663, rs118203665, rs118203668, rs118203671, rs118203673, rs118203675, rs118203680, rs118203681, rs118203682, rs118203685, rs118203687, rs118203697, rs118203704, rs118203706, rs118203707, rs118203709, rs118203711, rs118203724, rs118203727, rs118203728, rs118203732, rs118203360, rs118203362, rs118203735, rs118203364, rs118203365, rs118203372, rs118203378, rs118203380, rs118203382, rs118203384, rs118203390, rs118203403, rs118203411, rs118203416, rs118203417, rs118203419, rs118203422, rs118203423, rs118203427, rs118203429, rs118203434, rs118203438, rs118203439, rs118203450, rs118203451, rs118203454, rs118203458, rs118203461, rs118203463, rs118203464, rs118203465, rs118203466, rs118203474, rs118203477, rs118203479, rs118203478, rs1564477162, rs747602915, rs1564488264, rs1588355838, rs1588290641, rs1588290658, rs1588301269, rs1588301374, rs1588301951, rs1588309702, rs1588310754, rs1588322764, rs1588324435, rs1588326629, rs1588345595, rs1588355566, rs1588355628, rs1588290111, rs1588298866, rs397514774, rs397514776, rs397514778, rs118203638, rs397514783, rs397514784, rs397514788, rs397514789, rs397514798, rs397514804, rs397514815, rs397514820, rs397514842, rs397514846, rs397514847, rs397514855, rs397514861, rs397514862, rs397515294, rs397514865, rs397514867, rs397514870, rs397514871, rs397514879, rs1588299201, rs281875358, rs1588312765, rs1588350477, rs1588321344, rs1588290078, rs1588297391, rs1845327789, rs1845328711, rs368317116, rs1845932297, rs118203452, rs1846020610, rs1846669447, rs1846682853, rs1846813509, rs1846926218, rs1846806279, rs1845135533, rs1845149321, rs1845504382, rs1845604585, rs1845643067, rs1845652716, rs1845654716, rs1846577619, rs1846550204, rs1846685279, rs397514838, rs1846011821, rs1845452711, rs1171512070, rs1845617102, rs1845700817, rs1846004910, rs1846545578, rs1846915941, rs1846916239, rs397514819, rs1845453970, rs1845641716, rs1846010451, rs1846585365, rs118203370, rs1846822085, rs1845497321, rs1845607838, rs1845899274, rs1846678053, rs118203363, rs1845652182, rs1846543630, rs1846672141	RCV001328534 RCV001377906 RCV001378275 RCV001385425 RCV001380315 RCV001390649 RCV001388672 RCV001380829 RCV001386055 RCV001386226 RCV001384179 RCV001381589 RCV001390309 RCV001387191 RCV001381145 RCV001390138 RCV001386542 RCV001383671 RCV001381489 RCV001384328 RCV001384424 RCV001384683 RCV001380335 RCV001383657 RCV001382616 RCV001387456 RCV001386596 RCV001385624 RCV002567987 RCV002564237 RCV001706864 RCV001724772 RCV001808009 RCV001919019 RCV001881487 RCV001864151 RCV001994527 RCV001994576 RCV001933452 RCV001941752 RCV001900123 RCV001947685 RCV001899970 RCV002016665 RCV001941365 RCV001987759 RCV001972674 RCV001940344 RCV001942746 RCV001944574 RCV001923809 RCV002037862 RCV001994640 RCV001994644 RCV002001834 RCV002007502 RCV001942258 RCV001941863 RCV001972449 RCV001938681 RCV001970210 RCV001951149 RCV001889031 RCV001991366 RCV001946631 RCV001956342 RCV001956052 RCV001956057 RCV001884087 RCV001908534 RCV001939023 RCV001906614 RCV001902215 RCV001940495 RCV001958692 RCV001890177 RCV001944356 RCV001983024 RCV001984676 RCV001913520 RCV002221699 RCV002236392 RCV002246788 RCV002267146 RCV002267150 RCV002267151 RCV002274870 RCV002283809 RCV002289235 RCV002289258 RCV002290358 RCV002470502 RCV003062239 RCV000176033 RCV002510744 RCV000005403 RCV000005404 RCV000005406 RCV000005411 RCV000005412 RCV002672205 RCV002517903 RCV002796378 RCV002810187 RCV002801644 RCV002856248 RCV002846604 RCV002838879 RCV002839375 RCV002839512 RCV002870893 RCV002838490 RCV002871274 RCV002889533 RCV002863096 RCV002894107 RCV002852300 RCV002866025 RCV002871822 RCV002852090 RCV002880415 RCV002876075 RCV002881137 RCV002877190 RCV002867803 RCV002894424 RCV002937483 RCV002914434 RCV002922665 RCV002947912 RCV002942333 RCV000201049 RCV002996673 RCV003014116 RCV003014239 RCV003029456 RCV003014712 RCV003029025 RCV003020266 RCV003055327 RCV003044937 RCV003140389 RCV000227889 RCV003153169 RCV001859489 RCV000557618 RCV000804352 RCV003614036 RCV003239283 RCV003334725 RCV003337901 RCV003448548 RCV003450557 RCV003452622 RCV003486539 RCV003505373 RCV003505472 RCV003505508 RCV003505513 RCV003505784 RCV003505501 RCV003505810 RCV003505849 RCV003505453 RCV003505486 RCV003505353 RCV003505517 RCV003505519 RCV003505873 RCV003505866 RCV003505907 RCV003506223 RCV003506562 RCV003506563 RCV003504968 RCV003504928 RCV003504759 RCV003504758 RCV003504906 RCV003504954 RCV003505028 RCV003505033 RCV003505059 RCV003505562 RCV003505708 RCV003614275 RCV003613541 RCV003613637 RCV003613691 RCV003613830 RCV003613716 RCV003613744 RCV003613820 RCV003613873 RCV003613874 RCV003613875 RCV003613864 RCV003613807 RCV003613859 RCV003613886 RCV003614017 RCV003614532 RCV003613937 RCV003613917 RCV003613978 RCV003614026 RCV003614615 RCV003614702 RCV003614611 RCV003614721 RCV003614665 RCV003614773 RCV003614653 RCV003614708 RCV003614910 RCV003614845 RCV003615393 RCV003985215 RCV003986014 RCV004372001 RCV004442533 RCV004442552 RCV004442600 RCV004442608 RCV005100807 RCV003505107 RCV000416374 RCV003505110 RCV000456728 RCV000463910 RCV000466326 RCV000474214 RCV000458177 RCV001333394 RCV001856826 RCV001865459 RCV002526541 RCV001797732 RCV005091015 RCV001851470 RCV005091199 RCV003319365 RCV000988280 RCV000539497 RCV000555253 RCV000558526 RCV000559976 RCV000527637 RCV000560734 RCV000529738 RCV000540931 RCV000538529 RCV001853844 RCV001387999 RCV003505125 RCV000641959 RCV000641998 RCV000642025 RCV000641960 RCV000641977 RCV000642033 RCV000641978 RCV000642031 RCV000660338 RCV000660334 RCV000660333 RCV000660330 RCV000660332 RCV000685891 RCV000702420 RCV000699092 RCV000689532 RCV000687521 RCV000687172 RCV000689807 RCV000705549 RCV000694011 RCV000691650 RCV000699891 RCV000693592 RCV000685190 RCV000704624 RCV003505083 RCV001204448 RCV001380785 RCV002514164 RCV003505084 RCV000201015 RCV000814745 RCV001852862 RCV002513609 RCV002513610 RCV000201075 RCV001208859 RCV000474016 RCV000201132 RCV000660336 RCV000201005 RCV001852863 RCV001385236 RCV000660337 RCV001852864 RCV003505086 RCV001380989 RCV000824628 RCV000201178 RCV000698745 RCV003505087 RCV002514165 RCV005862746 RCV001058298 RCV001203717 RCV003505088 RCV003326117 RCV001222573 RCV000201087 RCV005049409 RCV001387641 RCV000686570 RCV000201170 RCV000476162 RCV001199387 RCV000688704 RCV001385877 RCV005089382 RCV001199388 RCV002513613 RCV001281331 RCV001199389 RCV001223370 RCV001384743 RCV004795961 RCV000473593 RCV001199390 RCV000201048 RCV000793708 RCV005089383 RCV002513615 RCV000988273 RCV000796200 RCV000201118 RCV000541372 RCV000679899 RCV000793960 RCV001852865 RCV000550474 RCV001797598 RCV000538905 RCV000660339 RCV000201195 RCV000660329 RCV001253033 RCV001852866 RCV001380988 RCV000812045 RCV001378743 RCV001210529 RCV001046803 RCV000467664 RCV003505089 RCV000552517 RCV001064764 RCV001852868 RCV002266912 RCV002514166 RCV000641989 RCV001203487 RCV000686448 RCV001257304 RCV000819722 RCV000201068 RCV000201126 RCV001852869 RCV000201189 RCV001052124 RCV000660331 RCV001221738 RCV001797599 RCV001852870 RCV000542283 RCV005859483 RCV001852871 RCV000703930 RCV000180495 RCV005089384 RCV003153241 RCV001852872 RCV000201208 RCV005089385 RCV000201052 RCV000201139 RCV001855927 RCV001028066 RCV000768346 RCV000855450 RCV000815795 RCV000801733 RCV000817013 RCV000824442 RCV000820650 RCV000803565 RCV000804841 RCV000824621 RCV000819397 RCV000813392 RCV000794398 RCV000809212 RCV000807632 RCV000819765 RCV000810834 RCV000797529 RCV000823533 RCV003505092 RCV001250492 RCV001853082 RCV000705433 RCV002513715 RCV004791254 RCV002267724 RCV004786328 RCV002291555 RCV001039771 RCV000461024 RCV002515741 RCV000797052 RCV000005407 RCV001389750 RCV001221701 RCV000201001 RCV001250493 RCV001250494 RCV002274891 RCV000641997 RCV000551066 RCV002273951 RCV001199391 RCV000201058 RCV001250495 RCV000201112 RCV000201176 RCV001853084 RCV000988274 RCV000988276 RCV000988277 RCV000988279 RCV000988281 RCV003505153 RCV001293857 RCV001250431 RCV001860807 RCV001065555 RCV001042431 RCV001035781 RCV001050640 RCV001042216 RCV001052243 RCV001052688 RCV001039880 RCV001038098 RCV001043370 RCV001047596 RCV001048055 RCV001199392 RCV001199386 RCV001199385 RCV001199384 RCV001199383 RCV001199382 RCV001199394 RCV001199395 RCV001199393 RCV001218210 RCV001214482 RCV001207537 RCV001211168 RCV001208288 RCV001204979 RCV001206323 RCV001208764 RCV001211811 RCV001208919 RCV001211307 RCV001205503 RCV001232210 RCV001235747 RCV001236469 RCV001229700 RCV001237508 RCV001231647 RCV001230095 RCV001239992 RCV001243019 RCV001244743 RCV001239926 RCV001281332 RCV001250748 RCV001253123 RCV001294832	★★★★★ 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, rs775589156, rs2539017364, rs2132237228, rs1057518217, rs118203369, rs1064794132, rs1554816245, rs1554815914, rs1564474542, rs118203481, rs118203485, rs118203486, rs118203494, rs118203495, rs118203501, rs118203509, rs118203510, rs118203523, rs118203525, rs118203527, rs118203531, rs118203537, rs118203542, rs118203549, rs118203550, rs118203343, rs118203557, rs118203563, rs118203564, rs118203582, rs118203587, rs118203345, rs118203599, rs118203603, rs75820036, rs118203606, rs118203610, rs118203614, rs118203617, rs118203619, rs118203620, rs118203621, rs118203625, rs118203624, rs118203628, rs118203627, rs118203629, rs118203631, rs118203632, rs118203633, rs118203638, rs118203353, rs118203352, rs118203645, rs118203646, rs118203647, rs118203650, rs118203354, rs118203661, rs118203662, rs118203663, rs118203665, rs118203668, rs118203671, rs118203673, rs118203675, rs118203679, rs118203680, rs118203681, rs118203682, rs118203685, rs118203686, rs118203687, rs118203697, rs118203700, rs118203704, rs118203706, rs118203707, rs118203709, rs118203711, rs118203712, rs118203724, rs118203727, rs118203728, rs118203732, rs118203360, rs118203361, rs118203362, rs118203735, rs118203364, rs118203365, rs118203372, rs118203376, rs118203378, rs118203380, rs118203382, rs118203384, rs118203387, rs118203390, rs118203402, rs118203403, rs118203407, rs118203411, rs118203416, rs118203417, rs118203422, rs118203423, rs118203427, rs118203429, rs118203434, rs118203438, rs118203439, rs118203440, rs118203445, rs118203450, rs118203451, rs118203454, rs118203458, rs118203461, rs118203463, rs118203464, rs118203465, rs118203466, rs118203470, rs118203474, rs118203477, rs118203479, rs118203478, rs1588299158, rs1588324615, rs397514774, rs397514776, rs397514778, rs397514780, rs397514783, rs397514784, rs397514788, rs397514789, rs397514795, rs397514798, rs397514804, rs397514815, rs397514819, rs397514820, rs397514842, rs397514846, rs397514847, rs397514855, rs397514861, rs397514862, rs397515294, rs397514865, rs397514867, rs397514869, rs397514870, rs397514871, rs397514874, rs397514879, rs1588290078	RCV004010875 RCV004007453 RCV000042099 RCV000042356 RCV000042102 RCV000042336 RCV000042306 RCV004804499 RCV000042241 RCV000042045 RCV003317737 RCV004018082 RCV004018339 RCV004018371 RCV004018374 RCV004018379 RCV004526557 RCV004556160 RCV003323527 RCV006268792 RCV000781918 RCV006277851 RCV000509053 RCV004017720 RCV005357946 RCV000041973 RCV000041976 RCV000041980 RCV000041986 RCV000041987 RCV000041995 RCV000042000 RCV000042003 RCV000042004 RCV000042022 RCV000042024 RCV000042026 RCV000042030 RCV000042038 RCV000042043 RCV000042051 RCV000042052 RCV000042055 RCV000042061 RCV000042065 RCV000042066 RCV000042084 RCV000042090 RCV000042091 RCV000042103 RCV000042108 RCV000042109 RCV000042110 RCV000042114 RCV000042115 RCV000042118 RCV000042121 RCV000042123 RCV000042124 RCV000042125 RCV000042130 RCV000042131 RCV000042132 RCV000042133 RCV000042134 RCV000042136 RCV000042137 RCV000042138 RCV000042148 RCV000042153 RCV000042154 RCV000042156 RCV000042157 RCV000042158 RCV000042161 RCV000042163 RCV000042172 RCV000042173 RCV000042174 RCV000042176 RCV000042180 RCV000042183 RCV000042185 RCV000042187 RCV000042191 RCV000042192 RCV000042193 RCV000042194 RCV000042197 RCV000042198 RCV000042200 RCV000042211 RCV000042214 RCV000042218 RCV000042220 RCV000042222 RCV000042224 RCV000042227 RCV000042228 RCV000042233 RCV000042239 RCV000042240 RCV000042242 RCV000042243 RCV000042246 RCV000042247 RCV000042248 RCV000042249 RCV000042253 RCV000042263 RCV000042264 RCV000042280 RCV000042281 RCV000042286 RCV000042289 RCV000042290 RCV000042292 RCV000042294 RCV000042297 RCV000042300 RCV000042311 RCV000042313 RCV000042314 RCV000042317 RCV000042321 RCV000042326 RCV000042327 RCV000042332 RCV006268096 RCV000042334 RCV000042337 RCV000042338 RCV000042345 RCV000042346 RCV000042347 RCV000042351 RCV000042358 RCV000042361 RCV000042362 RCV000042365 RCV000042369 RCV000042373 RCV000042374 RCV000042375 RCV000042376 RCV000042377 RCV000042379 RCV000042385 RCV000042387 RCV000042389 RCV000042390 RCV000826206 RCV000826207 RCV000054876 RCV000054878 RCV000054881 RCV000054882 RCV000054883 RCV000054888 RCV000054889 RCV000054896 RCV000054897 RCV000054904 RCV000054912 RCV000054919 RCV000054925 RCV000054934 RCV000054940 RCV000054944 RCV000054946 RCV000054948 RCV000054949 RCV000054971 RCV000054979 RCV000054983 RCV000054985 RCV000054995 RCV000055003 RCV000055004 RCV000055010 RCV000055013 RCV000055015 RCV000055017 RCV000055018 RCV000055019 RCV000055023 RCV000055029 RCV000055031 RCV000055038 RCV002307655	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs118203717	RCV005937415	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (49)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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	18067135	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	21062901	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	21499249	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	22138691	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	18538015	★★☆☆☆ 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	18067135	★★☆☆☆ 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	12112044, 21062901	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FOCAL CORTICAL DYSPLASIA OF TAYLOR	—	CTD, Disgenet CTD, Disgenet	12112044, 28215400	★★☆☆☆ 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	18538015	★★☆☆☆ 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	19169254	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALAAM SEIZURES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	28215400	★★☆☆☆ 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	10349994, 11170177, 15888477, 18345974, 21062901, 21345208, 27425891, 9242607, 9863590	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBEROUS SCLEROSIS COMPLEX	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	20301399, 20301399	★★☆☆☆ 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

Associations from Text Mining Show/Hide Text Mining Associations (367)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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		★☆☆☆☆ 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, 29078087, 29285181, 30079598, 30911571, 31353861, 31761686, 9761305		★★★☆☆ 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	Esophageal neoplasm	Pubtator	18413730	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	18413730		★☆☆☆☆ 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	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	BEFREE	12112044		★★☆☆☆ 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, 7849709, 7849741, 8566961, 8824721, 8950679, 9006662, 9210877		★★★★☆ 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, 20639436, 21128782, 23026293, 23690211, 23867796, 24304514, 24570392, 25476905, 25780943, 26167915, 27289491, 27494029, 27907099, 28202529, 28643793, 28972182, 29171770, 29339522, 29669930, 29927757, 30095976, 30816188, 30922357, 31299246, 9529362		★☆☆☆☆ 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		★☆☆☆☆ 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		★☆☆☆☆ 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, 12172553, 12364343, 12773159, 12853839, 12906785, 14566857, 14651849, 15183538, 15340059, 15483652, 15541811, 15565817, 15611656, 15951164, 16042315, 16286931, 16457017, 16470587, 16554133, 16713332, 16732329, 16909113, 16965334, 17013611, 17355907, 17359356, 17541983, 17592551, 18198340, 18291711, 18342602, 18397877, 18408969, 18480009, 18538015, 19013721, 19250671, 1967858, 19843540, 19966866, 20054236, 20924998, 20940396, 21078999, 22125081, 22927055, 23035046, 23865520, 23867796, 24634386, 25082895, 25476905, 25517951, 25978531, 27313493, 27516388, 27845047, 28092822, 28265819, 28302097, 28887784, 29127155, 29406787, 29924239, 29980790, 30050412, 30095976, 30144504, 30191950, 30237309, 30285856, 30622053, 31420607, 31619031, 31645902, 8162074, 8755927, 8824721, 8950679, 9210877, 9580671		★☆☆☆☆ 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	Pubtator	10340649, 29877000, 34480426	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	10340649, 16877242, 16940165, 24884933, 29877000, 30279084, 31032681		★☆☆☆☆ 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	LHGDN	18538015		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	18538015		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	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, 16700943, 16877242, 16981987, 18226172, 18292222, 18350576, 18547304, 18772611, 18830229, 19133941, 19259131, 19443708, 19747374, 19912235, 20133820, 20383465, 20547222, 20639436, 20671064, 20877415, 21266383, 21268779, 21345208, 22301052, 22791573, 22927055, 22974335, 23660529, 23661441, 23857276, 24271014, 24495558, 24512506, 24558502, 24606538, 24714658, 24884933, 25160545, 25452577, 25498131, 25782670, 25889454, 25927202, 26077033, 26540169, 26703369, 26893383, 27406250, 27493206, 27640314, 27682873, 28087349, 28270230, 28892148, 28968464, 28973543, 28978585, 28993242, 29196670, 29261847, 29314583, 29843636, 29929111, 30127391, 30185235, 30190613, 30236073, 30581017, 31005478, 31039793, 31525612, 31591157, 31655562, 31921404, 32313033, 32383331, 32472129, 32502382, 32532290, 32555378, 32735081, 32807195, 32849516, 32871942, 32917147, 32954437, 33773987, 33990704, 34229737, 34328706, 34348978, 34399110, 34417327, 34433328, 34480426, 34709498, 34860161, 35060563, 35358092, 35366331, 35483879, 35961105, 36142537, 36232477, 36469115, 37141891, 37356622, 37880800, 37946245, 38217425, 39352229, 39383590, 39596632, 40225170, 40226305, 8386250, 8755927, 8818940, 8950679, 9863590, 9989450	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, 11170177, 11208653, 11288117, 11406664, 11438694, 11444800, 11468687, 11521203, 11564212, 11579436, 11583980, 11710839, 11741833, 11749114, 11781698, 11829138, 12015165, 12040899, 12111193, 12112044, 12185771, 12202993, 12271141, 12364343, 12511557, 12711473, 12773162, 12906785, 1293183, 14641237, 14651849, 14684235, 15072102, 15175323, 15178220, 15257730, 15340059, 15342917, 15455405, 15563020, 15579029, 15595939, 15611656, 15635489, 15785425, 15798777, 15851026, 15888477, 15951164, 15972957, 16042315, 16136513, 16192644, 16225402, 16288294, 16459994, 16490346, 16552619, 16554133, 16624901, 16700943, 16713332, 16818174, 16877242, 16940165, 16965334, 16981987, 17071037, 17099139, 17287951, 17300684, 17355907, 17386056, 17483958, 17592551, 17637444, 18080139, 18292222, 18302728, 18345974, 18397877, 18414839, 18830229, 18835623, 18958173, 19005330, 19028034, 19143643, 19234517, 19250671, 19265534, 19286253, 19297407, 19419980, 19420259, 19443708, 19602587, 19692352, 19694899, 19747374, 19918125, 20054236, 20087180, 20146692, 20159776, 20165957, 20358377, 20498439, 20526286, 20877415, 20882401, 20924998, 20959633, 21079609, 21115397, 21224066, 21266383, 21268779, 21309039, 21332470, 21449900, 21510812, 21541650, 21813552, 22018140, 22025691, 22161988, 22327361, 22490766, 22520346, 22532572, 22544507, 22571569, 22608477, 22626986, 22752306, 22791333, 22805177, 22848848, 22903760, 22927055, 2303253, 23123587, 23386324, 23389244, 23661441, 23845174, 23846400, 23857276, 23867796, 23909698, 24271014, 24304514, 24558502, 24570392, 24599401, 24606538, 24633152, 24737435, 24789117, 24884933, 24917535, 25082895, 25281918, 25452577, 25476905, 25591831, 25724664, 25880340, 25900779, 25927202, 26069922, 26220190, 26231267, 26350902, 26408672, 26412398, 26563443, 26873267, 27226234, 27406250, 27493206, 27516388, 27543366, 27585680, 27748010, 27760312, 27859028, 27860216, 27862655, 27871249, 27918305, 28013293, 28043938, 28057044, 28087349, 28089566, 28092822, 28127866, 28178598, 28222202, 28400571, 28488386, 28623545, 28637240, 28646232, 28746872, 28762286, 28786492, 28808237, 28844017, 28968464, 28973543, 28993242, 29073472, 29143563, 29230685, 29261847, 29285173, 29336632, 29364507, 29416749, 29432982, 29476190, 29478616, 29500070, 29509898, 29642139, 29687738, 29843636, 29929111, 30024541, 30036593, 30079598, 30095976, 30127391, 30144045, 30144504, 30156054, 30190613, 30255984, 30295710, 30297426, 30332768, 30479846, 30509037, 30528355, 30581017, 30684133, 30684511, 30696882, 30808980, 30816188, 30904097, 30928642, 31005478, 31032681, 31039793, 31100427, 31140686, 31207499, 31437431, 31494502, 31605778, 31612306, 31761686, 31780742, 31799751, 31834371, 31850909, 7552144, 7552145, 7670658, 7849708, 7849709, 7849741, 8386250, 8566961, 8592324, 8634701, 8824721, 8944308, 8950679, 8990004, 9006662, 9242607, 9328481, 9463313, 9523203, 9580671, 9761305, 9803264, 9813776, 9863590, 9989450		★★☆☆☆ 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, 15856327, 16996505, 18835118, 19297407, 19539245, 20048174, 24044547, 25081057, 26393489, 27493206, 31437431, 7547639, 8755927, 9328481, 9580671		★☆☆☆☆ 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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

TSC2 9 shared diseasesBrain disease, Cryptogenic west syndrome, Epilepsy, Focal cortical dysplasia, Seizures, Mouth neoplasms, Infantile spasms, Tuberous sclerosis complex, West syndrome 16 shared pathwaysPhospholipase D signaling pathway, Autophagy - animal, mTOR signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Cellular senescence, Thermogenesis, Insulin signaling pathway, Human cytomegalovirus infection, Herpes simplex virus 1 infection, Choline metabolism in cancer, TP53 Regulates Metabolic Genes +4 more 20 shared evidence sourcesCTD (Brain disease), Disgenet (Brain disease), CTD (Squamous cell carcinoma), Disgenet (Cryptogenic west syndrome), CTD (Epilepsy), Disgenet (Epilepsy), Disgenet (Focal cortical dysplasia), CTD (Focal cortical dysplasia), HPO (Focal cortical dysplasia), CTD (Mouth neoplasms), Disgenet (Infantile spasms), CTD (Seizures) +8 more Related via 16 shared pathways including Phospholipase D signaling pathway, Autophagy - animal — evidence mostly CTD. SLC1A1 5 shared diseasesBrain disease, Cognition disorder, Delirium, dementia, and cognitive disorders, Epilepsy, Seizures 7 shared evidence sourcesCTD (Brain disease), Disgenet (Brain disease), CTD (Cognition disorder), Disgenet (Delirium, dementia, and cognitive disorders), CTD (Epilepsy), Disgenet (Epilepsy), CTD (Seizures) Related via 5 shared diseases including Brain disease, Cognition disorder — evidence mostly CTD. RHEB 1 shared diseaseFocal cortical dysplasia 14 shared pathwaysPhospholipase D signaling pathway, Autophagy - animal, mTOR signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Cellular senescence, Thermogenesis, Insulin signaling pathway, Human cytomegalovirus infection, Herpes simplex virus 1 infection, Choline metabolism in cancer, TP53 Regulates Metabolic Genes +2 more 1 shared evidence sourceDisgenet (Focal cortical dysplasia) Related via 14 shared pathways including Phospholipase D signaling pathway, Autophagy - animal — evidence mostly Disgenet. CRH 7 shared diseasesCognition disorder, Cryptogenic west syndrome, Delirium, dementia, and cognitive disorders, Epilepsy, Seizures, Infantile spasms, West syndrome 7 shared evidence sourcesCTD (Cognition disorder), Disgenet (Cryptogenic west syndrome), Disgenet (Delirium, dementia, and cognitive disorders), Disgenet (Epilepsy), Disgenet (Infantile spasms), CTD (Seizures), Disgenet (West syndrome) Related via 7 shared diseases including Cognition disorder, Cryptogenic west syndrome — evidence mostly Disgenet. CDK5R1 3 shared diseasesBrain disease, Cognition disorder, Delirium, dementia, and cognitive disorders 4 shared evidence sourcesCTD (Brain disease), Disgenet (Brain disease), CTD (Cognition disorder), Disgenet (Delirium, dementia, and cognitive disorders) Related via 3 shared diseases including Brain disease, Cognition disorder — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TSC2	9	["Brain disease","Cryptogenic west syndrome","Epilepsy","Focal cortical dysplasia","Seizures","Mouth neoplasms","Infantile spasms","Tuberous sclerosis complex","West syndrome"]	16	["Phospholipase D signaling pathway","Autophagy - animal","mTOR signaling pathway","AMPK signaling pathway","Longevity regulating pathway","Cellular senescence","Thermogenesis","Insulin signaling pathway","Human cytomegalovirus infection","Herpes simplex virus 1 infection","Choline metabolism in cancer","TP53 Regulates Metabolic Genes"]	20	["CTD (Brain disease)","Disgenet (Brain disease)","CTD (Squamous cell carcinoma)","Disgenet (Cryptogenic west syndrome)","CTD (Epilepsy)","Disgenet (Epilepsy)","Disgenet (Focal cortical dysplasia)","CTD (Focal cortical dysplasia)","HPO (Focal cortical dysplasia)","CTD (Mouth neoplasms)","Disgenet (Infantile spasms)","CTD (Seizures)"]
SLC1A1	5	["Brain disease","Cognition disorder","Delirium, dementia, and cognitive disorders","Epilepsy","Seizures"]	0	[]	7	["CTD (Brain disease)","Disgenet (Brain disease)","CTD (Cognition disorder)","Disgenet (Delirium, dementia, and cognitive disorders)","CTD (Epilepsy)","Disgenet (Epilepsy)","CTD (Seizures)"]
RHEB	1	["Focal cortical dysplasia"]	14	["Phospholipase D signaling pathway","Autophagy - animal","mTOR signaling pathway","AMPK signaling pathway","Longevity regulating pathway","Cellular senescence","Thermogenesis","Insulin signaling pathway","Human cytomegalovirus infection","Herpes simplex virus 1 infection","Choline metabolism in cancer","TP53 Regulates Metabolic Genes"]	1	["Disgenet (Focal cortical dysplasia)"]
CRH	7	["Cognition disorder","Cryptogenic west syndrome","Delirium, dementia, and cognitive disorders","Epilepsy","Seizures","Infantile spasms","West syndrome"]	0	[]	7	["CTD (Cognition disorder)","Disgenet (Cryptogenic west syndrome)","Disgenet (Delirium, dementia, and cognitive disorders)","Disgenet (Epilepsy)","Disgenet (Infantile spasms)","CTD (Seizures)","Disgenet (West syndrome)"]
CDK5R1	3	["Brain disease","Cognition disorder","Delirium, dementia, and cognitive disorders"]	0	[]	4	["CTD (Brain disease)","Disgenet (Brain disease)","CTD (Cognition disorder)","Disgenet (Delirium, dementia, and cognitive disorders)"]

Diseases Linked via Similar Genes

Major depressive disorder Linked via 3 of 5 related genesTSC2, SLC1A1, CRH Schizophrenia Linked via 3 of 5 related genesSLC1A1, CRH, CDK5R1 Neurodevelopmental disorder Linked via 2 of 5 related genesTSC2, RHEB Obesity Linked via 2 of 5 related genesTSC2, CRH Bipolar disorder Linked via 2 of 5 related genesSLC1A1, CRH

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Major depressive disorder	3	["TSC2","SLC1A1","CRH"]
Schizophrenia	3	["SLC1A1","CRH","CDK5R1"]
Neurodevelopmental disorder	2	["TSC2","RHEB"]
Obesity	2	["TSC2","CRH"]
Bipolar disorder	2	["SLC1A1","CRH"]