LAMP2 (lysosomal associated membrane protein 2)

Gene

• Entrez ID: 3920
• Gene name: Lysosomal associated membrane protein 2
• Gene symbol: LAMP2
• Synonyms (NCBI Gene): CD107b, DND, LAMP-2, LAMPB, LGP-96, LGP110
• Chromosome: X
• Chromosome location: Xq24
• Summary: The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhes

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894857	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894858	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894859	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852527	A>T	Pathogenic	Coding sequence variant, stop gained
rs138991195	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs139633545	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs141574558	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144140265	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Intron variant, missense variant, coding sequence variant
rs149276836	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs193922649	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs200297370	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	5 prime UTR variant
rs200934351	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201209341	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs397516736	A>C,G,T	Likely-pathogenic, uncertain-significance	Synonymous variant, stop gained, coding sequence variant
rs397516738	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516739	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516740	C>T	Pathogenic	Stop gained, coding sequence variant
rs397516743	T>C	Pathogenic	Splice acceptor variant
rs397516751	TCAC>-	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs397516752	C>G	Likely-pathogenic	Splice acceptor variant
rs398123685	AAGTTTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs727503118	G>A,T	Likely-benign, pathogenic, benign	Synonymous variant, stop gained, coding sequence variant
rs727503119	C>A,T	Pathogenic	Splice donor variant
rs727503120	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs727503121	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs727503122	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs727504262	C>T	Likely-pathogenic	Splice acceptor variant
rs727504557	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727504597	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs727504600	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs727504648	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs727504742	C>G,T	Pathogenic	Splice donor variant
rs730880344	->TA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs730880479	C>T	Likely-pathogenic	Intron variant
rs730880483	G>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs730880485	A>G	Pathogenic	Splice donor variant
rs730880490	A>T	Pathogenic	Splice donor variant
rs730880492	->TGTTG	Pathogenic	Frameshift variant, coding sequence variant
rs730880493	->T	Pathogenic	Frameshift variant, coding sequence variant
rs730880496	C>G	Pathogenic	Splice acceptor variant
rs730880498	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs773525538	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs876657648	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs876657696	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057517940	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1060502302	CTC>TA	Pathogenic	Frameshift variant, coding sequence variant
rs1060502303	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502305	G>C	Pathogenic	Coding sequence variant, stop gained
rs1060502306	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064796635	C>A	Likely-pathogenic	Splice acceptor variant
rs1183994410	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1251075016	C>T	Pathogenic	Splice donor variant
rs1271031981	C>T	Pathogenic	Stop gained, coding sequence variant
rs1327363415	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1352584474	C>A,G	Uncertain-significance, pathogenic	Intron variant
rs1436181133	TGAGCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556092459	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1556092556	T>C	Pathogenic	Splice acceptor variant
rs1556101420	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556101523	A>T	Pathogenic	Stop gained, coding sequence variant
rs1556101640	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556123906	T>AC	Pathogenic	Intron variant
rs1556124149	T>A	Likely-pathogenic	Initiator codon variant, missense variant
rs1569369194	A>C	Pathogenic	Coding sequence variant, stop gained
rs1569369940	->AAACTATTGCATCTAAAAAGGTCATTCAATGGAATTCTGATGGCCAAAAGTTCAT	Pathogenic	Coding sequence variant, stop gained
rs1569371330	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569371591	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602534666	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602535807	A>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1602540152	ACAGTGCCATGGTC>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022427	hsa-miR-124-3p	Microarray	18668037
MIRT027054	hsa-miR-103a-3p	Sequencing	20371350
MIRT030821	hsa-miR-21-5p	Microarray	18591254
MIRT031571	hsa-miR-16-5p	Sequencing	20371350
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT633570	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT633570	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT633570	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT522779	hsa-miR-451b	PAR-CLIP	20371350
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT031571	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT522776	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT522775	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT522774	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	20371350
MIRT522780	hsa-miR-606	PAR-CLIP	20371350
MIRT522779	hsa-miR-451b	PAR-CLIP	20371350
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT031571	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT522776	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT522775	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT522774	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	20371350
MIRT522780	hsa-miR-606	PAR-CLIP	21572407
MIRT522779	hsa-miR-451b	PAR-CLIP	21572407
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031571	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT522776	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT522775	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT522774	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	21572407
MIRT522771	hsa-miR-4279	PAR-CLIP	21572407
MIRT522780	hsa-miR-606	PAR-CLIP	21572407
MIRT522779	hsa-miR-451b	PAR-CLIP	21572407
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031571	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT522776	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT522775	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT522774	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	21572407
MIRT522771	hsa-miR-4279	PAR-CLIP	21572407
MIRT522780	hsa-miR-606	PAR-CLIP	23446348
MIRT522779	hsa-miR-451b	PAR-CLIP	23446348
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031571	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT522776	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT522775	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT522774	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	23446348
MIRT522771	hsa-miR-4279	PAR-CLIP	23446348
MIRT509166	hsa-miR-4438	PAR-CLIP	23446348
MIRT509165	hsa-miR-6746-3p	PAR-CLIP	23446348
MIRT509164	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT509163	hsa-miR-4537	PAR-CLIP	23446348
MIRT509162	hsa-miR-5095	PAR-CLIP	23446348
MIRT509161	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT440345	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT440345	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT727324	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT727323	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT727322	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT731462	hsa-miR-27a-3p	Luciferase reporter assay	26993299
MIRT731462	hsa-miR-27a-3p	Luciferase reporter assay	26993299
MIRT636470	hsa-miR-1276	HITS-CLIP	27418678
MIRT636470	hsa-miR-1276	HITS-CLIP	27418678
MIRT625868	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT633570	hsa-miR-548c-3p	HITS-CLIP	27418678
MIRT625869	hsa-miR-8485	HITS-CLIP	27418678
MIRT625869	hsa-miR-8485	HITS-CLIP	27418678
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT633570	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT633570	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT636470	hsa-miR-1276	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT633570	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT625869	hsa-miR-8485	HITS-CLIP	23824327
MIRT625868	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT522779	hsa-miR-451b	PAR-CLIP	20371350
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT031571	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT522776	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT522775	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT522774	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	20371350
MIRT522780	hsa-miR-606	PAR-CLIP	20371350
MIRT522779	hsa-miR-451b	PAR-CLIP	20371350
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT031571	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT522776	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT522775	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT522774	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	20371350
MIRT522780	hsa-miR-606	PAR-CLIP	21572407
MIRT522779	hsa-miR-451b	PAR-CLIP	21572407
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031571	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT522776	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT522775	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT522774	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	21572407
MIRT522771	hsa-miR-4279	PAR-CLIP	21572407
MIRT522780	hsa-miR-606	PAR-CLIP	21572407
MIRT522779	hsa-miR-451b	PAR-CLIP	21572407
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031571	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT522776	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT522775	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT522774	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	21572407
MIRT522771	hsa-miR-4279	PAR-CLIP	21572407
MIRT522780	hsa-miR-606	PAR-CLIP	23446348
MIRT522779	hsa-miR-451b	PAR-CLIP	23446348
MIRT522778	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT522777	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031571	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT522776	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT522775	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT522774	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT522773	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT522772	hsa-miR-3152-3p	PAR-CLIP	23446348
MIRT522771	hsa-miR-4279	PAR-CLIP	23446348
MIRT509166	hsa-miR-4438	PAR-CLIP	23446348
MIRT509165	hsa-miR-6746-3p	PAR-CLIP	23446348
MIRT509164	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT509163	hsa-miR-4537	PAR-CLIP	23446348
MIRT509162	hsa-miR-5095	PAR-CLIP	23446348
MIRT509161	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT1103507	hsa-miR-132	CLIP-seq
MIRT1103508	hsa-miR-212	CLIP-seq
MIRT1103509	hsa-miR-3613-3p	CLIP-seq
MIRT1103510	hsa-miR-371-5p	CLIP-seq
MIRT1103511	hsa-miR-371b-5p	CLIP-seq
MIRT1103512	hsa-miR-3924	CLIP-seq
MIRT1103513	hsa-miR-494	CLIP-seq
MIRT1103514	hsa-miR-1305	CLIP-seq
MIRT1103515	hsa-miR-144	CLIP-seq
MIRT1103516	hsa-miR-199a-3p	CLIP-seq
MIRT1103517	hsa-miR-199b-3p	CLIP-seq
MIRT1103518	hsa-miR-2053	CLIP-seq
MIRT1103519	hsa-miR-2114	CLIP-seq
MIRT1103520	hsa-miR-297	CLIP-seq
MIRT1103521	hsa-miR-3065-5p	CLIP-seq
MIRT1103522	hsa-miR-3129-5p	CLIP-seq
MIRT1103523	hsa-miR-3133	CLIP-seq
MIRT1103524	hsa-miR-3162-3p	CLIP-seq
MIRT1103525	hsa-miR-3168	CLIP-seq
MIRT1103526	hsa-miR-3180-5p	CLIP-seq
MIRT1103527	hsa-miR-3200-5p	CLIP-seq
MIRT1103528	hsa-miR-335	CLIP-seq
MIRT1103529	hsa-miR-3591-3p	CLIP-seq
MIRT1103530	hsa-miR-3606	CLIP-seq
MIRT1103531	hsa-miR-3653	CLIP-seq
MIRT1103532	hsa-miR-3658	CLIP-seq
MIRT1103533	hsa-miR-3665	CLIP-seq
MIRT1103534	hsa-miR-3976	CLIP-seq
MIRT1103535	hsa-miR-421	CLIP-seq
MIRT1103536	hsa-miR-4263	CLIP-seq
MIRT1103537	hsa-miR-4274	CLIP-seq
MIRT1103538	hsa-miR-4328	CLIP-seq
MIRT1103539	hsa-miR-4422	CLIP-seq
MIRT1103540	hsa-miR-4427	CLIP-seq
MIRT1103541	hsa-miR-4509	CLIP-seq
MIRT1103542	hsa-miR-450b-5p	CLIP-seq
MIRT1103543	hsa-miR-4519	CLIP-seq
MIRT1103544	hsa-miR-4524	CLIP-seq
MIRT1103545	hsa-miR-4643	CLIP-seq
MIRT1103546	hsa-miR-466	CLIP-seq
MIRT1103547	hsa-miR-4678	CLIP-seq
MIRT1103548	hsa-miR-4680-3p	CLIP-seq
MIRT1103549	hsa-miR-4744	CLIP-seq
MIRT1103550	hsa-miR-4773	CLIP-seq
MIRT1103551	hsa-miR-4775	CLIP-seq
MIRT1103552	hsa-miR-4777-5p	CLIP-seq
MIRT1103553	hsa-miR-4789-3p	CLIP-seq
MIRT1103554	hsa-miR-4799-5p	CLIP-seq
MIRT1103513	hsa-miR-494	CLIP-seq
MIRT1103555	hsa-miR-505	CLIP-seq
MIRT1103556	hsa-miR-507	CLIP-seq
MIRT1103557	hsa-miR-518d-5p	CLIP-seq
MIRT1103558	hsa-miR-519b-5p	CLIP-seq
MIRT1103559	hsa-miR-519c-5p	CLIP-seq
MIRT1103560	hsa-miR-520c-5p	CLIP-seq
MIRT1103561	hsa-miR-520g	CLIP-seq
MIRT1103562	hsa-miR-520h	CLIP-seq
MIRT1103563	hsa-miR-526a	CLIP-seq
MIRT1103564	hsa-miR-557	CLIP-seq
MIRT1103565	hsa-miR-567	CLIP-seq
MIRT1103566	hsa-miR-569	CLIP-seq
MIRT1103567	hsa-miR-576-5p	CLIP-seq
MIRT1103568	hsa-miR-590-3p	CLIP-seq
MIRT1103569	hsa-miR-657	CLIP-seq
MIRT1103570	hsa-miR-889	CLIP-seq
MIRT1103571	hsa-miR-103a	CLIP-seq
MIRT1103572	hsa-miR-107	CLIP-seq
MIRT1103573	hsa-miR-1179	CLIP-seq
MIRT1103574	hsa-miR-1197	CLIP-seq
MIRT1103575	hsa-miR-1245	CLIP-seq
MIRT1103576	hsa-miR-1256	CLIP-seq
MIRT1103577	hsa-miR-148a	CLIP-seq
MIRT1103578	hsa-miR-148b	CLIP-seq
MIRT1103579	hsa-miR-152	CLIP-seq
MIRT1103580	hsa-miR-181a	CLIP-seq
MIRT1103581	hsa-miR-181b	CLIP-seq
MIRT1103582	hsa-miR-181c	CLIP-seq
MIRT1103583	hsa-miR-181d	CLIP-seq
MIRT1103584	hsa-miR-1825	CLIP-seq
MIRT1103585	hsa-miR-199a-5p	CLIP-seq
MIRT1103586	hsa-miR-199b-5p	CLIP-seq
MIRT1103587	hsa-miR-202	CLIP-seq
MIRT1103588	hsa-miR-218	CLIP-seq
MIRT1103589	hsa-miR-25	CLIP-seq
MIRT1103590	hsa-miR-302a	CLIP-seq
MIRT1103591	hsa-miR-302b	CLIP-seq
MIRT1103592	hsa-miR-302c	CLIP-seq
MIRT1103593	hsa-miR-302d	CLIP-seq
MIRT1103594	hsa-miR-302e	CLIP-seq
MIRT1103523	hsa-miR-3133	CLIP-seq
MIRT1103595	hsa-miR-3176	CLIP-seq
MIRT1103596	hsa-miR-32	CLIP-seq
MIRT1103597	hsa-miR-363	CLIP-seq
MIRT1103531	hsa-miR-3653	CLIP-seq
MIRT1103532	hsa-miR-3658	CLIP-seq
MIRT1103598	hsa-miR-3663-5p	CLIP-seq
MIRT1103599	hsa-miR-367	CLIP-seq
MIRT1103600	hsa-miR-3671	CLIP-seq
MIRT1103601	hsa-miR-3673	CLIP-seq
MIRT1103602	hsa-miR-3675-3p	CLIP-seq
MIRT1103510	hsa-miR-371-5p	CLIP-seq
MIRT1103511	hsa-miR-371b-5p	CLIP-seq
MIRT1103603	hsa-miR-372	CLIP-seq
MIRT1103604	hsa-miR-373	CLIP-seq
MIRT1103605	hsa-miR-374a	CLIP-seq
MIRT1103606	hsa-miR-374b	CLIP-seq
MIRT1103607	hsa-miR-377	CLIP-seq
MIRT1103608	hsa-miR-3908	CLIP-seq
MIRT1103609	hsa-miR-3922-3p	CLIP-seq
MIRT1103610	hsa-miR-3973	CLIP-seq
MIRT1103611	hsa-miR-3974	CLIP-seq
MIRT1103612	hsa-miR-4261	CLIP-seq
MIRT1103613	hsa-miR-4262	CLIP-seq
MIRT1103614	hsa-miR-4269	CLIP-seq
MIRT1103615	hsa-miR-4325	CLIP-seq
MIRT1103542	hsa-miR-450b-5p	CLIP-seq
MIRT1103616	hsa-miR-4514	CLIP-seq
MIRT1103545	hsa-miR-4643	CLIP-seq
MIRT1103617	hsa-miR-4659a-5p	CLIP-seq
MIRT1103618	hsa-miR-4659b-5p	CLIP-seq
MIRT1103546	hsa-miR-466	CLIP-seq
MIRT1103547	hsa-miR-4678	CLIP-seq
MIRT1103619	hsa-miR-4692	CLIP-seq
MIRT1103620	hsa-miR-4697-3p	CLIP-seq
MIRT1103621	hsa-miR-4704-3p	CLIP-seq
MIRT1103622	hsa-miR-4720-5p	CLIP-seq
MIRT1103623	hsa-miR-4742-5p	CLIP-seq
MIRT1103624	hsa-miR-4753-5p	CLIP-seq
MIRT1103625	hsa-miR-4757-5p	CLIP-seq
MIRT1103553	hsa-miR-4789-3p	CLIP-seq
MIRT1103626	hsa-miR-4789-5p	CLIP-seq
MIRT1103627	hsa-miR-4799-3p	CLIP-seq
MIRT1103556	hsa-miR-507	CLIP-seq
MIRT1103628	hsa-miR-519a	CLIP-seq
MIRT1103629	hsa-miR-519b-3p	CLIP-seq
MIRT1103630	hsa-miR-519c-3p	CLIP-seq
MIRT1103631	hsa-miR-520a-3p	CLIP-seq
MIRT1103632	hsa-miR-520b	CLIP-seq
MIRT1103633	hsa-miR-520c-3p	CLIP-seq
MIRT1103634	hsa-miR-520d-3p	CLIP-seq
MIRT1103635	hsa-miR-520e	CLIP-seq
MIRT1103636	hsa-miR-526b	CLIP-seq
MIRT1103637	hsa-miR-548m	CLIP-seq
MIRT1103564	hsa-miR-557	CLIP-seq
MIRT1103638	hsa-miR-562	CLIP-seq
MIRT1103639	hsa-miR-595	CLIP-seq
MIRT1103640	hsa-miR-603	CLIP-seq
MIRT1103641	hsa-miR-636	CLIP-seq
MIRT1103642	hsa-miR-640	CLIP-seq
MIRT1103643	hsa-miR-873	CLIP-seq
MIRT1103644	hsa-miR-877	CLIP-seq
MIRT1103645	hsa-miR-92a	CLIP-seq
MIRT1103646	hsa-miR-92b	CLIP-seq
MIRT1103587	hsa-miR-202	CLIP-seq
MIRT1103547	hsa-miR-4678	CLIP-seq
MIRT1103644	hsa-miR-877	CLIP-seq
MIRT1103571	hsa-miR-103a	CLIP-seq
MIRT1103572	hsa-miR-107	CLIP-seq
MIRT1103573	hsa-miR-1179	CLIP-seq
MIRT2028288	hsa-miR-1297	CLIP-seq
MIRT2028289	hsa-miR-1324	CLIP-seq
MIRT2028290	hsa-miR-1976	CLIP-seq
MIRT1103587	hsa-miR-202	CLIP-seq
MIRT2028291	hsa-miR-2052	CLIP-seq
MIRT2028292	hsa-miR-26a	CLIP-seq
MIRT2028293	hsa-miR-26b	CLIP-seq
MIRT2028294	hsa-miR-3668	CLIP-seq
MIRT1103602	hsa-miR-3675-3p	CLIP-seq
MIRT1103607	hsa-miR-377	CLIP-seq
MIRT1103608	hsa-miR-3908	CLIP-seq
MIRT1103610	hsa-miR-3973	CLIP-seq
MIRT1103614	hsa-miR-4269	CLIP-seq
MIRT2028295	hsa-miR-4310	CLIP-seq
MIRT1103540	hsa-miR-4427	CLIP-seq
MIRT2028296	hsa-miR-4465	CLIP-seq
MIRT1103616	hsa-miR-4514	CLIP-seq
MIRT1103547	hsa-miR-4678	CLIP-seq
MIRT1103548	hsa-miR-4680-3p	CLIP-seq
MIRT1103619	hsa-miR-4692	CLIP-seq
MIRT2028297	hsa-miR-4722-3p	CLIP-seq
MIRT2028298	hsa-miR-4735-5p	CLIP-seq
MIRT1103623	hsa-miR-4742-5p	CLIP-seq
MIRT1103549	hsa-miR-4744	CLIP-seq
MIRT2028299	hsa-miR-4761-5p	CLIP-seq
MIRT1103551	hsa-miR-4775	CLIP-seq
MIRT2028300	hsa-miR-548a-3p	CLIP-seq
MIRT2028301	hsa-miR-548aa	CLIP-seq
MIRT2028302	hsa-miR-548e	CLIP-seq
MIRT2028303	hsa-miR-548f	CLIP-seq
MIRT1103638	hsa-miR-562	CLIP-seq
MIRT1103568	hsa-miR-590-3p	CLIP-seq
MIRT2028304	hsa-miR-600	CLIP-seq
MIRT2028305	hsa-miR-624	CLIP-seq
MIRT1103644	hsa-miR-877	CLIP-seq
MIRT2259449	hsa-miR-2116	CLIP-seq
MIRT1103589	hsa-miR-25	CLIP-seq
MIRT2259450	hsa-miR-3119	CLIP-seq
MIRT1103596	hsa-miR-32	CLIP-seq
MIRT1103597	hsa-miR-363	CLIP-seq
MIRT2259451	hsa-miR-3646	CLIP-seq
MIRT2259452	hsa-miR-3647-3p	CLIP-seq
MIRT2259453	hsa-miR-3662	CLIP-seq
MIRT1103599	hsa-miR-367	CLIP-seq
MIRT2259454	hsa-miR-4452	CLIP-seq
MIRT2259455	hsa-miR-4635	CLIP-seq
MIRT2259456	hsa-miR-4677-5p	CLIP-seq
MIRT2259457	hsa-miR-4715-3p	CLIP-seq
MIRT1103636	hsa-miR-526b	CLIP-seq
MIRT1103645	hsa-miR-92a	CLIP-seq
MIRT1103646	hsa-miR-92b	CLIP-seq
MIRT1103623	hsa-miR-4742-5p	CLIP-seq
MIRT1103573	hsa-miR-1179	CLIP-seq
MIRT1103577	hsa-miR-148a	CLIP-seq
MIRT1103578	hsa-miR-148b	CLIP-seq
MIRT1103579	hsa-miR-152	CLIP-seq
MIRT1103617	hsa-miR-4659a-5p	CLIP-seq
MIRT1103618	hsa-miR-4659b-5p	CLIP-seq
MIRT1103620	hsa-miR-4697-3p	CLIP-seq
MIRT1103621	hsa-miR-4704-3p	CLIP-seq
MIRT1103580	hsa-miR-181a	CLIP-seq
MIRT1103581	hsa-miR-181b	CLIP-seq
MIRT1103582	hsa-miR-181c	CLIP-seq
MIRT1103583	hsa-miR-181d	CLIP-seq
MIRT1103613	hsa-miR-4262	CLIP-seq
MIRT2430547	hsa-miR-4272	CLIP-seq
MIRT1103541	hsa-miR-4509	CLIP-seq
MIRT1103545	hsa-miR-4643	CLIP-seq
MIRT1103546	hsa-miR-466	CLIP-seq
MIRT1103623	hsa-miR-4742-5p	CLIP-seq
MIRT1103549	hsa-miR-4744	CLIP-seq
MIRT1103624	hsa-miR-4753-5p	CLIP-seq
MIRT1103553	hsa-miR-4789-3p	CLIP-seq
MIRT1103626	hsa-miR-4789-5p	CLIP-seq
MIRT2028304	hsa-miR-600	CLIP-seq
MIRT2028305	hsa-miR-624	CLIP-seq
MIRT2430548	hsa-miR-630	CLIP-seq
MIRT2028288	hsa-miR-1297	CLIP-seq
MIRT2028290	hsa-miR-1976	CLIP-seq
MIRT2028292	hsa-miR-26a	CLIP-seq
MIRT2028293	hsa-miR-26b	CLIP-seq
MIRT2028296	hsa-miR-4465	CLIP-seq
MIRT2452859	hsa-miR-4532	CLIP-seq
MIRT2028297	hsa-miR-4722-3p	CLIP-seq
MIRT2452860	hsa-miR-4740-3p	CLIP-seq
MIRT2028288	hsa-miR-1297	CLIP-seq
MIRT2028290	hsa-miR-1976	CLIP-seq
MIRT2028292	hsa-miR-26a	CLIP-seq
MIRT2028293	hsa-miR-26b	CLIP-seq
MIRT2028296	hsa-miR-4465	CLIP-seq
MIRT2452859	hsa-miR-4532	CLIP-seq
MIRT2028297	hsa-miR-4722-3p	CLIP-seq
MIRT2452860	hsa-miR-4740-3p	CLIP-seq
MIRT2559752	hsa-miR-105	CLIP-seq
MIRT2559753	hsa-miR-1208	CLIP-seq
MIRT2559754	hsa-miR-1257	CLIP-seq
MIRT2559755	hsa-miR-1264	CLIP-seq
MIRT2559756	hsa-miR-155	CLIP-seq
MIRT2559757	hsa-miR-194	CLIP-seq
MIRT1103516	hsa-miR-199a-3p	CLIP-seq
MIRT1103517	hsa-miR-199b-3p	CLIP-seq
MIRT2559758	hsa-miR-2110	CLIP-seq
MIRT2559759	hsa-miR-2117	CLIP-seq
MIRT2559760	hsa-miR-2278	CLIP-seq
MIRT2559761	hsa-miR-23a	CLIP-seq
MIRT2559762	hsa-miR-23b	CLIP-seq
MIRT2559763	hsa-miR-23c	CLIP-seq
MIRT2559764	hsa-miR-2681	CLIP-seq
MIRT2559765	hsa-miR-3074-3p	CLIP-seq
MIRT2559766	hsa-miR-3121-3p	CLIP-seq
MIRT2559767	hsa-miR-3125	CLIP-seq
MIRT2559768	hsa-miR-3127-5p	CLIP-seq
MIRT1103522	hsa-miR-3129-5p	CLIP-seq
MIRT2559769	hsa-miR-3140-3p	CLIP-seq
MIRT2559770	hsa-miR-3150a-5p	CLIP-seq
MIRT2559771	hsa-miR-3150b-3p	CLIP-seq
MIRT2559772	hsa-miR-3150b-5p	CLIP-seq
MIRT2559773	hsa-miR-3153	CLIP-seq
MIRT2559774	hsa-miR-3160-5p	CLIP-seq
MIRT2559775	hsa-miR-3163	CLIP-seq
MIRT2559776	hsa-miR-3545-3p	CLIP-seq
MIRT2559777	hsa-miR-3689d	CLIP-seq
MIRT1103510	hsa-miR-371-5p	CLIP-seq
MIRT1103511	hsa-miR-371b-5p	CLIP-seq
MIRT2559778	hsa-miR-383	CLIP-seq
MIRT2559779	hsa-miR-3913-3p	CLIP-seq
MIRT2559780	hsa-miR-3916	CLIP-seq
MIRT2559781	hsa-miR-3918	CLIP-seq
MIRT2559782	hsa-miR-3925-5p	CLIP-seq
MIRT2559783	hsa-miR-3941	CLIP-seq
MIRT2559784	hsa-miR-4252	CLIP-seq
MIRT1103536	hsa-miR-4263	CLIP-seq
MIRT2559785	hsa-miR-4271	CLIP-seq
MIRT2559786	hsa-miR-4273	CLIP-seq
MIRT2559787	hsa-miR-4282	CLIP-seq
MIRT2559788	hsa-miR-4301	CLIP-seq
MIRT2559789	hsa-miR-4311	CLIP-seq
MIRT2559790	hsa-miR-4433	CLIP-seq
MIRT2559791	hsa-miR-4459	CLIP-seq
MIRT2559792	hsa-miR-452	CLIP-seq
MIRT2559793	hsa-miR-4528	CLIP-seq
MIRT1103545	hsa-miR-4643	CLIP-seq
MIRT1103546	hsa-miR-466	CLIP-seq
MIRT2559794	hsa-miR-4668-3p	CLIP-seq
MIRT2559795	hsa-miR-4672	CLIP-seq
MIRT2559796	hsa-miR-4676-3p	CLIP-seq
MIRT2559797	hsa-miR-4677-3p	CLIP-seq
MIRT2259456	hsa-miR-4677-5p	CLIP-seq
MIRT2559798	hsa-miR-4680-5p	CLIP-seq
MIRT2559799	hsa-miR-4685-5p	CLIP-seq
MIRT2559800	hsa-miR-4693-3p	CLIP-seq
MIRT2559801	hsa-miR-4699-3p	CLIP-seq
MIRT2559802	hsa-miR-4725-3p	CLIP-seq
MIRT2559803	hsa-miR-4728-3p	CLIP-seq
MIRT2559804	hsa-miR-4766-3p	CLIP-seq
MIRT2559805	hsa-miR-4768-3p	CLIP-seq
MIRT2559806	hsa-miR-4772-5p	CLIP-seq
MIRT2559807	hsa-miR-4784	CLIP-seq
MIRT1103553	hsa-miR-4789-3p	CLIP-seq
MIRT2559808	hsa-miR-4797-3p	CLIP-seq
MIRT2559809	hsa-miR-4803	CLIP-seq
MIRT2559810	hsa-miR-489	CLIP-seq
MIRT2559811	hsa-miR-491-5p	CLIP-seq
MIRT1103513	hsa-miR-494	CLIP-seq
MIRT2559812	hsa-miR-495	CLIP-seq
MIRT2559813	hsa-miR-513a-3p	CLIP-seq
MIRT2559814	hsa-miR-513c	CLIP-seq
MIRT2559815	hsa-miR-514b-5p	CLIP-seq
MIRT1103557	hsa-miR-518d-5p	CLIP-seq
MIRT1103558	hsa-miR-519b-5p	CLIP-seq
MIRT1103559	hsa-miR-519c-5p	CLIP-seq
MIRT1103560	hsa-miR-520c-5p	CLIP-seq
MIRT1103563	hsa-miR-526a	CLIP-seq
MIRT2559816	hsa-miR-539	CLIP-seq
MIRT2559817	hsa-miR-543	CLIP-seq
MIRT2559818	hsa-miR-545	CLIP-seq
MIRT2559819	hsa-miR-570	CLIP-seq
MIRT2559820	hsa-miR-574-5p	CLIP-seq
MIRT2559821	hsa-miR-656	CLIP-seq
MIRT1103644	hsa-miR-877	CLIP-seq
MIRT2559822	hsa-miR-936	CLIP-seq
MIRT2559823	hsa-miR-944	CLIP-seq
MIRT2559752	hsa-miR-105	CLIP-seq
MIRT2559757	hsa-miR-194	CLIP-seq
MIRT2559759	hsa-miR-2117	CLIP-seq
MIRT2559765	hsa-miR-3074-3p	CLIP-seq
MIRT2559768	hsa-miR-3127-5p	CLIP-seq
MIRT2559769	hsa-miR-3140-3p	CLIP-seq
MIRT2559770	hsa-miR-3150a-5p	CLIP-seq
MIRT2559772	hsa-miR-3150b-5p	CLIP-seq
MIRT2559774	hsa-miR-3160-5p	CLIP-seq
MIRT2559775	hsa-miR-3163	CLIP-seq
MIRT1103510	hsa-miR-371-5p	CLIP-seq
MIRT1103511	hsa-miR-371b-5p	CLIP-seq
MIRT2559779	hsa-miR-3913-3p	CLIP-seq
MIRT2559781	hsa-miR-3918	CLIP-seq
MIRT2559782	hsa-miR-3925-5p	CLIP-seq
MIRT2559783	hsa-miR-3941	CLIP-seq
MIRT2559786	hsa-miR-4273	CLIP-seq
MIRT2559787	hsa-miR-4282	CLIP-seq
MIRT2559788	hsa-miR-4301	CLIP-seq
MIRT2559789	hsa-miR-4311	CLIP-seq
MIRT2559793	hsa-miR-4528	CLIP-seq
MIRT1103545	hsa-miR-4643	CLIP-seq
MIRT1103546	hsa-miR-466	CLIP-seq
MIRT2559794	hsa-miR-4668-3p	CLIP-seq
MIRT2559795	hsa-miR-4672	CLIP-seq
MIRT2559797	hsa-miR-4677-3p	CLIP-seq
MIRT2259456	hsa-miR-4677-5p	CLIP-seq
MIRT2559799	hsa-miR-4685-5p	CLIP-seq
MIRT2559801	hsa-miR-4699-3p	CLIP-seq
MIRT1103553	hsa-miR-4789-3p	CLIP-seq
MIRT2559809	hsa-miR-4803	CLIP-seq
MIRT2559810	hsa-miR-489	CLIP-seq
MIRT2559812	hsa-miR-495	CLIP-seq
MIRT2559814	hsa-miR-513c	CLIP-seq
MIRT2559815	hsa-miR-514b-5p	CLIP-seq
MIRT1103557	hsa-miR-518d-5p	CLIP-seq
MIRT1103558	hsa-miR-519b-5p	CLIP-seq
MIRT1103559	hsa-miR-519c-5p	CLIP-seq
MIRT1103560	hsa-miR-520c-5p	CLIP-seq
MIRT1103563	hsa-miR-526a	CLIP-seq
MIRT2559816	hsa-miR-539	CLIP-seq
MIRT2559817	hsa-miR-543	CLIP-seq
MIRT2559818	hsa-miR-545	CLIP-seq
MIRT2559819	hsa-miR-570	CLIP-seq
MIRT2559821	hsa-miR-656	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000421	Component	Autophagosome membrane	IBA
GO:0000421	Component	Autophagosome membrane	IEA
GO:0005515	Function	Protein binding	IPI	20797626, 21194361, 26212789, 28514442, 32814053, 36481789, 37390818, 39225180
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005764	Component	Lysosome	IDA	12536145, 15229288, 19535332, 28743268
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	11082038
GO:0005765	Component	Lysosomal membrane	IDA	15297306, 21896273
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	15229288
GO:0005770	Component	Late endosome	IEA
GO:0005802	Component	Trans-Golgi network	IMP	26203154
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006605	Process	Protein targeting	IEA
GO:0006605	Process	Protein targeting	ISS
GO:0006914	Process	Autophagy	IEA
GO:0007042	Process	Lysosomal lumen acidification	IDA	37390818
GO:0007042	Process	Lysosomal lumen acidification	IEA
GO:0008200	Function	Ion channel inhibitor activity	IDA	37390818
GO:0008200	Function	Ion channel inhibitor activity	IEA
GO:0009267	Process	Cellular response to starvation	IBA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009267	Process	Cellular response to starvation	ISS
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IDA	15297306, 23093945
GO:0016020	Component	Membrane	IEA
GO:0017038	Process	Protein import	TAS	20176123
GO:0019899	Function	Enzyme binding	IPI	22641697
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030163	Process	Protein catabolic process	IDA	36586411
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031088	Component	Platelet dense granule membrane	IDA	15297306
GO:0031088	Component	Platelet dense granule membrane	TAS
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IDA	26203154
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031647	Process	Regulation of protein stability	IMP	26212789
GO:0031902	Component	Late endosome membrane	IBA
GO:0031902	Component	Late endosome membrane	IDA	21896273
GO:0031902	Component	Late endosome membrane	IEA
GO:0035577	Component	Azurophil granule membrane	IEA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0035591	Function	Signaling adaptor activity	IDA	36586411
GO:0035752	Process	Lysosomal lumen pH elevation	IDA	35750034
GO:0043202	Component	Lysosomal lumen	TAS	20176123
GO:0044754	Component	Autolysosome	IDA	25327288
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	26203154
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	ISS
GO:0061684	Process	Chaperone-mediated autophagy	IDA	36586411
GO:0061684	Process	Chaperone-mediated autophagy	IEA
GO:0061684	Process	Chaperone-mediated autophagy	IMP	8662539, 24880125, 27628032
GO:0061684	Process	Chaperone-mediated autophagy	ISS
GO:0061740	Process	Protein targeting to lysosome involved in chaperone-mediated autophagy	IBA
GO:0061740	Process	Protein targeting to lysosome involved in chaperone-mediated autophagy	IEA
GO:0061740	Process	Protein targeting to lysosome involved in chaperone-mediated autophagy	IMP	27628032
GO:0061740	Process	Protein targeting to lysosome involved in chaperone-mediated autophagy	ISS
GO:0061742	Component	Chaperone-mediated autophagy translocation complex	IMP	8662539
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	15908444
GO:0097352	Process	Autophagosome maturation	IBA
GO:0097352	Process	Autophagosome maturation	IEA
GO:0097352	Process	Autophagosome maturation	ISS
GO:0098857	Component	Membrane microdomain	TAS	20176123
GO:0101003	Component	Ficolin-1-rich granule membrane	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1900226	Process	Negative regulation of NLRP3 inflammasome complex assembly	IDA	36586411
GO:1902600	Process	Proton transmembrane transport	IDA	35750034
GO:1905146	Process	Lysosomal protein catabolic process	IMP	24880125

Other IDs

• MIM: 309060
• HGNC: 6501
• e!Ensembl: ENSG00000005893

Protein

• UniProt ID: P13473
• Protein name: Lysosome-associated membrane glycoprotein 2 (LAMP-2) (Lysosome-associated membrane protein 2) (CD107 antigen-like family member B) (LGP-96) (CD antigen CD107b)
• Protein function: Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation and autophagy (PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032, PubMed:36586411, PubMed:37390818, PubMed:8662539). A
• PDB: 2MOF, 2MOM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01299	Lamp	218 → 358	Lysosome-associated membrane glycoprotein (Lamp)	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform LAMP-2A is highly expressed in placenta, lung and liver, less in kidney and pancreas, low in brain and skeletal muscle (PubMed:26856698, PubMed:7488019). Isoform LAMP-2B is detected in spleen, thymus, prostate, testis, small in
• Sequence:

  MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKT
  YKTVTISDHGTVTYNGSICGDDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNT
  GDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLEKNDVVQHYWDVLVQAFVQNG
  TVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
  LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVN
  ISMYLVNGSVFSIANNNLSYWDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQG
  KYSTAQDCSADDDNFLVPIAVGAALAGVLILVLLAYFIGLKHHHAGYEQF

• Sequence length: 410

Pathways

KEGG:

Virion - Hepatitis viruses
Virion - Lassa virus and SFTS virus
Autophagy - animal
Lysosome
Phagosome
Tuberculosis

Reactome:

Platelet degranulation
Neutrophil degranulation

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardiomyopathy	Pathogenic; Likely pathogenic	rs2147287657, rs2147287662, rs730880492	RCV001799285 RCV001799288 RCV000157984	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2147287637, rs727503118, rs727504648, rs727503120, rs2520906991, rs730880498, rs2520913315, rs2520864428, rs1251075016, rs104894858, rs1057517940, rs1556101523, rs1556123906, rs397516751	RCV005665265 RCV006342113 RCV005348069 RCV003343655 RCV002349002 RCV004019906 RCV002455582 RCV003176886 RCV002381247 RCV002371769 RCV002418235 RCV003159800 RCV000621240 RCV002371830	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Danon disease	Pathogenic; Likely pathogenic	rs2147287624, rs2058605108, rs2147279469, rs2147281364, rs2147278850, rs2147282434, rs2147294924, rs2147281356, rs2147294800, rs2147278858, rs2147287645, rs1436664364, rs1385890053, rs1556092459, rs2147287565, rs1397410765, rs104894858, rs2147286730, rs2147278957, rs2147278864, rs2147294814, rs2147282355, rs2147281483, rs2147283096, rs727504742, rs727503118, rs727504648, rs727503120, rs727504597, rs727504262, rs727503119, rs727504600, rs730880344, rs730880483, rs730880492, rs730880496, rs2520948481, rs2520884782, rs2520884993, rs2520877178, rs2520913146, rs2520907960, rs2520913626, rs2520913421, rs2520877438, rs876657648, rs876657696, rs137852527, rs1352584474, rs2520860264, rs1251075016, rs1183994410, rs1327363415, rs1436181133, rs104894857, rs2520912530, rs2520884260, rs2520912484, rs2520908416, rs2520908238, rs1921109201, rs2520913492, rs2520912970, rs1057517940, rs1060502306, rs1060502305, rs1060502303, rs1060502302, rs1556101640, rs193922649, rs1556101523, rs1556101420, rs397516736, rs397516738, rs397516740, rs397516743, rs397516751, rs1271031981, rs1569369940, rs1569371591, rs1569369194, rs1569371330, rs1602540152, rs2058573264, rs957313991, rs1921663802, rs2058596487, rs1921053197	RCV001871756 RCV001330714 RCV001726529 RCV001377124 RCV001388566 RCV001387248 RCV001528125 RCV001731008 RCV001783550 RCV001783554 RCV003509077 RCV001783563 RCV001783567 RCV005199243 RCV001783586 RCV001783587 RCV002037657 RCV001949657 RCV001867823 RCV001993270 RCV001893587 RCV002029519 RCV002226877 RCV002250089 RCV000156041 RCV000150911 RCV000155911 RCV000150913 RCV000155777 RCV000154245 RCV000150912 RCV000155846 RCV000154670 RCV005411358 RCV000208028 RCV000157984 RCV001208408 RCV003228085 RCV002470643 RCV002820201 RCV002828493 RCV002941902 RCV002952828 RCV003005747 RCV003055563 RCV003044374 RCV000219626 RCV000223450 RCV000010655 RCV000010656 RCV000010657 RCV000010658 RCV000010659 RCV000010660 RCV000010661 RCV000010662 RCV000010663 RCV003314467 RCV003510494 RCV003510718 RCV003511237 RCV003510013 RCV003510192 RCV003623219 RCV003623508 RCV004586376 RCV005090665 RCV000465984 RCV000456892 RCV000477190 RCV000470635 RCV000471724 RCV001382578 RCV000037418 RCV000549262 RCV001783080 RCV001387423 RCV002513477 RCV005089356 RCV000037412 RCV000037416 RCV000037432 RCV000679872 RCV000685738 RCV000700468 RCV000697607 RCV000786769 RCV000816924 RCV001053614 RCV001035811 RCV001049068 RCV001225432 RCV001246464 RCV001240064	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs727503118, rs727503120, rs730880344, rs104894858, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752	RCV000844639 RCV000844641 RCV000154670 RCV000844638 RCV000037407 RCV000037408 RCV000037410 RCV000037411 RCV000844640 RCV000037433	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated Noncompaction of the Ventricular Myocardium	Pathogenic	rs2147282415	RCV001375637	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs104894858	RCV005912428	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs1064796635	RCV005899668	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs727503120, rs1064796635, rs397516740	RCV005888332 RCV005899667 RCV005889077	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs2147287624, rs2147294820, rs727504557, rs727504597	RCV001594455 RCV001594456 RCV000155721 RCV000155777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic	rs193922649	RCV000030113	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2147282434, rs104894858, rs727503119	RCV005912651 RCV005924360 RCV005888562 RCV005887416	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE IIB	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LAMP2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifascicular block on electrocardiogram	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	31771882		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30806567		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	29562499		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	31090940		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	31699817		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28945989, 39838438	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37418137	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	35371338	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30882175		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21953249		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27560716, 36519745	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26350055	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	26350055	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	11815981	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32901843, 35508649	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	36671453	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10972293, 15907287, 18282207, 19318653, 20920663, 23577876, 25900304, 27145725, 27678261, 28874292, 29463847, 31228518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	15673802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	15673802, 19318653, 25458169, 30584088	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	BEFREE	15673802		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17541230, 37568080	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	16565504, 19318653, 21896538, 31264915, 31464081, 32150461, 32248794, 37466024	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	18403758, 31464081	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	17873513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	27460667		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	31464081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	40442227	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28124283		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	29562499	Associate	★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	19272430		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	25031264		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27497751, 28526246		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29399154		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21462217, 27923262		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21462217, 27923262		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21462217	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21462217, 27923262		★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	27061067	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11485903		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29317206		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19367387	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27773683, 29317206		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37576973	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19367387	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29654511		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29522788		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	16144992		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31672277		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28453465	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	15673802, 24334114		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	28275109, 29587879	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	29790198		★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	15673802		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	28534963		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35131870, 35468038	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35131870	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	15673802		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	15673802	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to LAMP-2 deficiency	Glycogen Storage Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	15673802		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	CLINGEN_DG	10448712, 10972293, 15253947, 15673802, 16604439, 21896538, 27532257, 7488019		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	BEFREE	10972293, 10972294, 11427988, 12084876, 12398843, 12628346, 14598234, 15253947, 15673802, 15792868, 15907287, 16144992, 16372318, 16565504, 17027858, 17296900, 17899313, 18004770, 18061453, 18282207, 18990578, 19057086, 19318653, 19373884, 19588270, 20173215, 21161685, 22365987, 22695892, 22750798, 23504560, 23577876, 23716275, 24691104, 25557463, 25589223, 25826782, 26398689, 26748608, 27130438, 27145725, 27179547, 27460667, 27497751, 27678261, 28124283, 28526246, 28627787, 28874292, 29175505, 29463847, 29720683, 29753918, 30068868, 30108015, 30194816, 30536852, 30584088, 30714332, 30836785, 30929317, 31228518, 31464081, 31672277, 31729179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	10972294, 12084876, 15907287, 21415759, 24222494, 26835038, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	LHGDN	14561493, 16144992, 17296900, 17899313, 18061453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	CLINVAR_DG	14598234, 15253947, 15673802, 15792868, 15889279, 16217705, 16565504, 18061453, 18282207, 18312451, 18555174, 18990578, 19318653, 19373884, 20445193, 21415759, 21896538, 22074992, 22695892, 25458169, 27179547, 27532257, 27678261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IIb	Glycogen storage disease	Pubtator	15253947, 15673802, 16565504, 19318653, 20173215, 24955057, 25458169, 25826782, 27130438, 28627787, 30108015, 30584088, 30714332, 30929317, 31264915, 31464081, 32248794, 32533651, 33019488, 33038746, 33207664, 36671453, 37277924, 37288668, 37568080, 38256360, 39396772	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	UNIPROT_DG	15673802, 15907287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IIb	Glycogen storage disease	Pubtator	17541230	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	39838438	Associate	★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	19272430		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26464484	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28526246		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	15253947, 19318653, 30584088	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27497751, 28526246		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	15673802, 16144992		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	15673802, 16217705, 18555174, 19318653, 19373884, 20445193, 21896538, 22695892		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15907287, 16144992, 16565504, 18004770, 19057086, 19318653, 20920663, 22242628, 23577876, 25037680, 25900304, 27460667, 27497751, 29753918, 31228518		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15907287, 16565504, 18004770, 19057086, 20920663, 22242628, 23577876, 25037680, 25900304, 27460667, 27497751, 29753918		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28124283		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	20104022		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15907287, 16565504, 26748608, 27145725, 30959184		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27130438	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	31802633		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	31802633	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31564413		★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	17868323		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	22803570, 29748975		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	16144992		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	29460212		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30806567	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30806567		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	21412173		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27113935, 30100986		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	25894308	Stimulate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	29218765		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21953249		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29995557, 30483857, 30882175		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36087066	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mental Retardation	Mental retardation	BEFREE	15907287, 16565504		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT	Mental retardation	BEFREE	31729179		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	Pubtator	31039347	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35905688	Associate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	38256360	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	30806567	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	BEFREE	25900304		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21575615		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial necrosis	Myocardial necrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10972294, 11427988, 12628346, 31672277		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	16144992		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26658462, 28453465, 31285947, 31691371		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	19272430		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36830707	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11815981	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	19362087		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	29863911		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21514572, 22867958, 25594542, 28840510, 29456132, 29867441, 29989488, 30048497		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27061067	Inhibit	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	27687713		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	19272430		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	33664865	Associate	★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	30620279		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	30620279		★☆☆☆☆ Found in Text Mining only
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Pubtator	37115208	Associate	★☆☆☆☆ Found in Text Mining only
Preexcitation Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	15673802		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29995557, 30483857, 30882175		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10554036		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27627761, 30882175, 36741911	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	20555352	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29399154		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	17296900, 30836785		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	30836785		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	32533651	Associate	★☆☆☆☆ Found in Text Mining only
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	Spastic Ataxia	BEFREE	28535259		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28453465		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	19272430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	19272430		★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	27061067	Associate	★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	30943132		★☆☆☆☆ Found in Text Mining only
Thromboangiitis Obliterans	Thromboangiitis obliterans	Pubtator	38275601	Associate	★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar Myopathy	BEFREE	16565504, 19588270, 24488655, 27816333		★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar myopathy	Pubtator	16565504, 17541230, 24488655	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29463847		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	20236493, 22684653, 30620279		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	32248794	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	18403758		★☆☆☆☆ Found in Text Mining only
Ventricular preexcitation	Ventricular preexcitation	BEFREE	15673802		★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	LHGDN	16144992		★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked myopathy with excessive autophagy	Myopathy With Excessive Autophagy, X-Linked	BEFREE	16565504, 24488655, 25557463, 27816333		★☆☆☆☆ Found in Text Mining only