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

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

265

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

585

Show/Hide all (585)

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

Show/Hide all (1)

Transcription factor	Regulation	Reference
AR	Repression	21036700

Show/Hide all (74)

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

MIM	HGNC	e!Ensembl
605284	12362	ENSG00000165699

Q92574

Protein name

Hamartin (Tuberous sclerosis 1 protein)

Protein function

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

PDB

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

Family and domains

Pfam

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

Tissue specificity

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

Sequence

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

Sequence length

1164

Interactions

View interactions

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

9299

Show/Hide Causal Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenoma sebaceum	Likely pathogenic	rs1057518945	RCV000415178
Autosomal dominant epilepsy	Likely pathogenic	rs2538620466	RCV003156201
Cardiac rhabdomyoma	Pathogenic	rs118203682	RCV000415379
Cholangiocarcinoma	Pathogenic	rs118203717	RCV005937414
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs118203422	RCV005890296
Cortical dysplasia	Pathogenic	rs118203478	RCV000414909
Cortical tubers	Likely pathogenic; Pathogenic	rs1057518945, rs118203707	RCV000415178 RCV000415443
Familial cancer of breast	Pathogenic	rs118203717	RCV005937413
Hamartoma	Pathogenic	rs118203682	RCV000415379
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2131806725, rs2131685383, rs2132161155, rs2132219029, rs2539041649, rs2538834207, rs2538885807, rs2538714375, rs2538747859, rs2538656824, rs2538616111, rs2539075137, rs2131728806, rs2131628564, rs2538550958 View all (65 more)	RCV002420854 RCV002432071 RCV003375275 RCV005301140 RCV002359474 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
Isolated focal cortical dysplasia type II	Likely pathogenic; Pathogenic	rs2539143887, rs1064793494, rs2131883421, rs1064794132, rs1064795285, rs118203485, rs118203527, rs118203537, rs118203542, rs118203628, rs118203631, rs118203632, rs118203645, rs118203680, rs118203682 View all (6 more)	RCV003459791 RCV003464703 RCV003466459 RCV004568170 RCV005044725 RCV002477137 RCV005042123 RCV004795960 RCV000515319 RCV003460554 RCV000763190 RCV005049409 RCV003460555 RCV002054843 RCV005042125 RCV005394245 RCV000515416 RCV000768346 RCV002496733 RCV002496734 RCV002497782
Lymphangiomyomatosis	Pathogenic; Likely pathogenic	rs118203388, rs1064795285, rs118203485, rs118203527, rs118203537, rs118203542, rs118203631, rs118203632, rs118203353, rs118203680, rs118203682, rs118203707, rs118203387, rs118203427, rs118203461 View all (8 more)	RCV000005408 RCV005044725 RCV002477137 RCV005042123 RCV001199095 RCV000515319 RCV000763190 RCV005049409 RCV005890295 RCV002054843 RCV005042125 RCV001198554 RCV000042297 RCV000515416 RCV000054984 RCV000768346 RCV001292920 RCV001333395 RCV002496733 RCV002496734 RCV001198227 RCV001198651 RCV002497782
Malignant tumor of urinary bladder	Pathogenic; Likely pathogenic	rs2131972870, rs397514822, rs1554816432, rs1447417010, rs1554815054, rs1554813331, rs118203491, rs118203542, rs118203549, rs118203343, rs118203599, rs118203631, rs118203661, rs118203700, rs118203419 View all (3 more)	RCV003332343 RCV005939150 RCV005901162 RCV003332194 RCV003332210 RCV003332218 RCV000041982 RCV000055036 RCV000054972 RCV000054965 RCV000054920 RCV000054891 RCV003332093 RCV003332094 RCV000042329 RCV000042333 RCV003332259 RCV000054918
Multiple renal cysts	Pathogenic	rs118203707	RCV000415443
Neoplasm	Pathogenic	rs1846671628	RCV006274179
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs118203485	RCV005924109
Renal cortical cysts	Pathogenic	rs118203478	RCV000414909
Renal insufficiency	Pathogenic	rs118203478	RCV000414909
Sarcoma	Pathogenic	rs118203388	RCV005887307
See cases	Likely pathogenic; Pathogenic	rs2131741069, rs118203638, rs118203452	RCV002252809 RCV003128388 RCV004584416
Seizure	Pathogenic	rs118203682, rs118203707	RCV000415379 RCV000415443
Squamous cell lung carcinoma	Likely pathogenic	rs118203348	RCV005931027
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
Tuberous sclerosis 1	Likely pathogenic; Pathogenic	rs1845724649, rs2131806725, rs1554819620, rs2131685383, rs2131687967, rs2131741904, rs2131764067, rs2131765460, rs2131773288, rs2131814973, rs2131816800, rs2131823012, rs2131850310, rs2131880971, rs2131943046 View all (448 more)	RCV001328534 RCV001377906 RCV001378275 RCV001385425 RCV001380315 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
Tuberous sclerosis syndrome	Pathogenic; Likely pathogenic	rs2131863156, rs2131628564, rs118203595, rs118203447, rs118203597, rs118203426, rs118203396, rs118203506, rs118203726, rs118203544, rs2538894614, rs2131806725, rs118203717, rs1845156018, rs1554816432 View all (159 more)	RCV004010875 RCV004007453 RCV000042099 RCV000042356 RCV000042102 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
Uterine corpus endometrial carcinoma	Pathogenic	rs118203717	RCV005937415

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Likely benign	rs1060503192, rs768624733, rs190614659	RCV005899501 RCV000761141 RCV005905428
Angiofibromas	Uncertain significance	rs1554820262	RCV000626671
Astrocytoma	Uncertain significance	rs1554820262	RCV000626671
Autism spectrum disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs118203493, rs118203518, rs199620268	RCV000054950 RCV000054961 RCV000055027
Cervical cancer	Benign; Uncertain significance	rs118203576, rs766782582	RCV005887305 RCV005913570
Cleft palate	Likely benign	rs775465260	RCV005623337
Colon adenocarcinoma	not provided	rs118203614	RCV005890294
Colorectal cancer	Benign	rs7862221	RCV005890291
Craniopharyngioma	Conflicting classifications of pathogenicity	rs371093730, rs397514840	RCV000761012 RCV000761088
Epilepsy	Conflicting classifications of pathogenicity	rs753374839	RCV005625416
Focal cortical dysplasia of Taylor type 2B	Conflicting classifications of pathogenicity	rs118203657	RCV000005409
Hearing impairment	Benign; Likely benign	rs118203515	RCV005625245
Hepatocellular carcinoma	Benign	rs118203576	RCV005887303
Hereditary cancer	Conflicting classifications of pathogenicity	rs1060504861, rs1554820276	RCV005600940 RCV005601064
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	rs760470520, rs1845904791	RCV005626325 RCV005626337
Keratoconus	Uncertain significance	rs778671811	RCV003128469
Kidney angiomyolipoma	Uncertain significance	rs1554820262	RCV000626671
Kidney failure	Conflicting classifications of pathogenicity	rs377076733	RCV005625256
Lung cancer	Likely benign	rs113469460	RCV005905387
Lung lymphangioleiomyomatosis	Benign; Likely benign	rs118203576, rs200820603	RCV005357079 RCV005365261
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs62621221	RCV005890368
Malignant tumor of breast	Conflicting classifications of pathogenicity; Benign	rs368481360, rs1073123	RCV001269495 RCV001269358
Neuroblastoma	Uncertain significance	rs1564475884	RCV000761064
Nonpapillary renal cell carcinoma	Benign	rs118203576	RCV005887304
Ovarian cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs587778722, rs796053460, rs749979841, rs1177810382, rs574823234, rs753263747, rs769331772, rs1554817613	RCV003153402 RCV003153464 RCV003153524 RCV003154683 RCV003154826 RCV003153637 RCV003153710 RCV003153711
Papillary renal cell carcinoma type 1	Uncertain significance	rs777437357	RCV005911186
Primitive neuroectodermal tumor	Conflicting classifications of pathogenicity	rs118203532	RCV000761004
Thymoma	Likely benign	rs190614659	RCV005905429
Thyroid cancer, nonmedullary, 1	Benign	rs118203576	RCV005887306
Uterine carcinosarcoma	Benign	rs7862221	RCV005890292

Show/Hide Text Mining Associations (137)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Neoplasms	Associate	23867796
Adenocarcinoma	Associate	11696455, 18413730, 24593867, 28302097, 36239337
Adenocarcinoma of Lung	Associate	11696455
Adrenocortical Carcinoma	Associate	33626208
Alzheimer Disease	Associate	37440991
Angina Stable	Associate	30220708
Angiofibroma	Associate	11112665, 37141891
Angiofibroma	Inhibit	32461669
Angiomyolipoma	Associate	18547304, 19133941, 20498439, 25476905, 27494029, 27640314, 29764404, 30285856, 31586081, 31927531
Astrocytoma	Associate	20133820, 27625244, 32461669, 33051600
Ataxia	Associate	34130600
Autism Spectrum Disorder	Associate	21403110, 22558107, 30705255, 31591157, 31921404, 37880800
Autistic Disorder	Associate	21345208, 22558107, 23205844, 25160545
Barrett Esophagus	Associate	18413730
Beta ketothiolase deficiency	Associate	23851963
Blindness	Associate	30220708
Brain Diseases	Associate	27406250, 34130600
Brain Neoplasms	Associate	37423059
Breast Neoplasms	Inhibit	20658316, 26167915
Breast Neoplasms	Associate	20658316, 22562547, 28027327, 31704974, 36539038
Capillary Malformation Arteriovenous Malformation	Associate	19912235
Carcinogenesis	Associate	18413730
Carcinoma Adenoid Cystic	Associate	23778141
Carcinoma Ductal	Associate	20658316
Carcinoma Hepatocellular	Associate	25526364, 30373752, 37769223
Carcinoma Merkel Cell	Associate	36602798
Carcinoma Non Small Cell Lung	Associate	24593867, 30842342, 36239337
Carcinoma Renal Cell	Associate	24821879, 28626070, 29941307, 29975249, 30303819, 31975504, 37964489
Carcinoma Squamous Cell	Associate	24593867
Carcinoma Transitional Cell	Associate	18397877
Central Nervous System Infections	Associate	31921404
Central Nervous System Vascular Malformations	Associate	32502382
Cholangiocarcinoma	Associate	24563076
Chordoma	Associate	19401700, 21266383
Clear cell metastatic renal cell carcinoma	Associate	26831717, 31389395, 39366934
Colonic Neoplasms	Associate	35572821
Colorectal Neoplasms	Associate	20622004, 22363125, 34315829
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19893037
Craniocerebral Trauma	Associate	11112665
Cysts	Associate	27640314, 36142537
Cysts	Inhibit	32461669
Cytomegalovirus Infections	Associate	18407068
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	27682873
Developmental Disabilities	Associate	32461669
Drug Resistant Epilepsy	Associate	32461669
Endometrial Hyperplasia	Associate	11696455
Ependymoma	Associate	18350576
Epilepsies Partial	Associate	30220708, 30911571
Epilepsy	Associate	23205844, 28892148, 30185235, 30911571, 31591157, 32313033, 34252879, 34417327, 35961105, 40665309
Esophageal Neoplasms	Associate	18413730
Fetal Diseases	Associate	34480426
Focal Cortical Dysplasia	Associate	19175396
Focal cortical dysplasia of Taylor	Associate	18368626, 35961105
Fractures Spontaneous	Associate	27406250
Frontotemporal Dementia	Associate	34130600, 36469115
Gastrointestinal Stromal Tumors	Associate	33879132
Gaucher Disease	Associate	34130600
Genetic Diseases Inborn	Associate	24714658, 25476905, 29261847
Gerstmann Straussler Scheinker Disease	Associate	34130600
Glioma	Associate	18759130
Gliosis	Associate	18226172
Glycogen Storage Disease	Associate	34130600
Hamartoma	Associate	11468687, 11710839, 18292222, 28968464
Head and Neck Neoplasms	Associate	16412252
Hemimegalencephaly	Associate	31444548
Histiocytosis Langerhans Cell	Associate	35231481
Huntington Disease	Associate	34130600
Hypercalcemia	Associate	25889454
Hyperparathyroidism Primary	Associate	25889454
Hyperplasia	Associate	20526286, 30794603, 34730894
Hypophosphatemia	Associate	25889454
Hypoxia Brain	Associate	26762835
Inflammation	Associate	18413730
Insulin Resistance	Associate	15380067
Intellectual Disability	Associate	11112665, 25160545, 31005478, 31591157, 32313033, 37880800
Intestinal Atresia Multiple	Associate	40624119
Keratoconus	Associate	29261847, 37990318
Kidney Diseases	Associate	11112665
Kidney Neoplasms	Associate	23038766
Leukemia Myeloid Acute	Associate	20498439, 25476905, 40377620
Leukoencephalopathies	Associate	30581017
Lip Hamartomatous	Stimulate	22301052
Liver Neoplasms	Associate	28302097
Lung Diseases	Associate	19596836, 27871249
Lymphangioleiomyomatosis	Associate	16424383, 16474096, 16575396, 19133941, 19155472, 19596836, 19893037, 20630348, 20639436, 21036916, 21128782, 23555865, 23867796, 24051985, 25411763 View all (11 more)
Lymphoma Non Hodgkin	Associate	38460672
Macules hereditary congenital hypopigmented and hyperpigmented	Inhibit	32461669
Malnutrition	Associate	35458174
Megalencephaly	Associate	28892148
Melanoma	Associate	28302097
Mental Disorders	Associate	29196670, 36232477
Multiple Myeloma	Inhibit	30396185
Muscular dystrophy congenital with central nervous system involvement	Associate	32313033
Myopia	Associate	36719021
Neoplasm Metastasis	Associate	25009010
Neoplasm Metastasis	Inhibit	26167915
Neoplasms	Inhibit	11696455, 12867426, 12906785, 15380067, 15728574, 16424383, 18538015, 19349254, 20671064, 21036916, 21128782, 22301052, 23341583, 24051985, 24271014 View all (6 more)
Neoplasms	Associate	15662135, 16412252, 18397877, 20884743, 23778141, 24345884, 24714658, 25009010, 25476905, 25526364, 25727005, 26655088, 27270441, 27682873, 27871249 View all (21 more)
Neoplastic Syndromes Hereditary	Associate	27682873
Nerve Degeneration	Associate	20498439
Nervous System Diseases	Associate	22791573
Neurodevelopmental Disorders	Associate	31921404
Neuronal Ceroid Lipofuscinoses	Associate	34130600
Niemann Pick Disease Type A	Associate	34130600
Obesity	Associate	28445147
Ovarian Neoplasms	Associate	33560870
Pancreatic Neoplasms	Associate	31160355, 36261830, 38203311
Parkinson Disease	Associate	34130600
Perivascular Epithelioid Cell Neoplasms	Associate	20048174, 27871249, 33180365, 36367123, 37041531
Pigmentation Disorders	Associate	27918305
Pleural Effusion Malignant	Associate	20884743
Pneumothorax	Associate	27229674
Precancerous Conditions	Associate	27682873
Prostatic Neoplasms	Associate	32264916
Rectal Neoplasms	Associate	20622004
Respiratory Tract Infections	Associate	33727259
Retinitis	Associate	11112665
Retinoblastoma	Associate	39451177
Rhabdomyoma	Associate	10340649, 29877000, 34480426
Seizures	Associate	11112665, 19133941, 32461669, 9989450
Small Cell Lung Carcinoma	Associate	24593867, 24978188
Spasms Infantile	Associate	18801034, 36279597
Squamous Cell Carcinoma of Head and Neck	Associate	18538015
Stomach Neoplasms	Associate	12174360, 27156070
Sweat Gland Neoplasms	Associate	33515627
Tauopathies	Associate	36469115
Thymoma	Associate	37703595
Thyroid Nodule	Associate	31525612
Tourette Syndrome	Associate	28978585
Tuberous Sclerosis	Associate	10090883, 10227394, 10340649, 11068191, 11112665, 11468687, 11710839, 12271141, 12582162, 1427899, 15150271, 15340059, 15380067, 16192644, 16624901 View all (121 more)
Tuberous Sclerosis	Inhibit	12867426, 12906785, 18368626, 20498439, 27918305, 31834371
Tuberous Sclerosis 1	Associate	10227394, 18397877
Tuberous Sclerosis 1	Inhibit	22301052
Tuberous Sclerosis 2	Inhibit	33180365
Urethral Neoplasms	Associate	21533174, 32767682
Urinary Bladder Neoplasms	Associate	18397877, 22923433, 27270441, 31393349
Xanthogranuloma Juvenile	Associate	32532290

TSC1 (TSC complex subunit 1)