LRP6 (LDL receptor related protein 6)

Gene

• Entrez ID: 4040
• Gene name: LDL receptor related protein 6
• Gene symbol: LRP6
• Synonyms (NCBI Gene): ADCAD2, EVR8, STHAG7
• Chromosome: 12
• Chromosome location: 12p13.2
• Summary: This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene func

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918313	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs141212743	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs397515473	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs397515474	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs745688776	G>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs765274952	G>A,C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs864309647	->A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs864309648	G>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs864309649	->AA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs866789963	C>A,T	Likely-pathogenic	Splice donor variant
rs869320635	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869320636	T>G	Pathogenic	Splice acceptor variant
rs869320637	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs869320638	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs869320639	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs869320640	T>C	Likely-pathogenic	Splice acceptor variant
rs1064794970	->GTGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555106788	A>G	Pathogenic	Splice donor variant
rs1555108264	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1565611848	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1591901585	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019112	hsa-miR-335-5p	Microarray	18185580
MIRT025965	hsa-miR-7-5p	Sequencing	20371350
MIRT050127	hsa-miR-26a-5p	CLASH	23622248
MIRT049446	hsa-miR-92a-3p	CLASH	23622248
MIRT046906	hsa-miR-221-3p	CLASH	23622248
MIRT039587	hsa-miR-628-3p	CLASH	23622248
MIRT036618	hsa-miR-940	CLASH	23622248
MIRT052934	hsa-miR-183-5p	Luciferase reporter assay, Western blot	24289859
MIRT438575	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	23811937
MIRT438575	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	23811937
MIRT437971	hsa-miR-202-3p	qRT-PCR, Luciferase reporter assay, Western blot	24704686
MIRT437971	hsa-miR-202-3p	qRT-PCR, Luciferase reporter assay, Western blot	24704686
MIRT438575	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	23811937
MIRT438575	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	23811937
MIRT437971	hsa-miR-202-3p	qRT-PCR, Luciferase reporter assay, Western blot	24704686
MIRT437971	hsa-miR-202-3p	qRT-PCR, Luciferase reporter assay, Western blot	24704686
MIRT724521	hsa-miR-5092	HITS-CLIP	19536157
MIRT724520	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT724519	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT724518	hsa-miR-6844	HITS-CLIP	19536157
MIRT510055	hsa-miR-3646	HITS-CLIP	21572407
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	21572407
MIRT510053	hsa-miR-580-5p	HITS-CLIP	21572407
MIRT510052	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT510050	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT510055	hsa-miR-3646	HITS-CLIP	21572407
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	21572407
MIRT510053	hsa-miR-580-5p	HITS-CLIP	21572407
MIRT510052	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT510050	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT510055	hsa-miR-3646	HITS-CLIP	22927820
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	22927820
MIRT556408	hsa-miR-495-3p	HITS-CLIP	22927820
MIRT556407	hsa-miR-5688	HITS-CLIP	22927820
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	22927820
MIRT510053	hsa-miR-580-5p	HITS-CLIP	22927820
MIRT510052	hsa-miR-410-3p	HITS-CLIP	22927820
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	22927820
MIRT510050	hsa-miR-190a-3p	HITS-CLIP	22927820
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	23313552
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT510053	hsa-miR-580-5p	HITS-CLIP	23313552
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT510055	hsa-miR-3646	HITS-CLIP	23313552
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	23313552
MIRT510052	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT510050	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT510055	hsa-miR-3646	HITS-CLIP	23824327
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	23824327
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT510053	hsa-miR-580-5p	HITS-CLIP	23824327
MIRT510052	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT612802	hsa-miR-8485	HITS-CLIP	23824327
MIRT612803	hsa-miR-8064	HITS-CLIP	23824327
MIRT612802	hsa-miR-8485	HITS-CLIP	23824327
MIRT612803	hsa-miR-8064	HITS-CLIP	23824327
MIRT612802	hsa-miR-8485	HITS-CLIP	23824327
MIRT612803	hsa-miR-8064	HITS-CLIP	23824327
MIRT612802	hsa-miR-8485	HITS-CLIP	23824327
MIRT612803	hsa-miR-8064	HITS-CLIP	23824327
MIRT510055	hsa-miR-3646	PAR-CLIP	20371350
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	20371350
MIRT510053	hsa-miR-580-5p	PAR-CLIP	20371350
MIRT510052	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT510051	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT510050	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT510055	hsa-miR-3646	PAR-CLIP	21572407
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT556408	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT556407	hsa-miR-5688	PAR-CLIP	21572407
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT510053	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT510052	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT510051	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT510050	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT510055	hsa-miR-3646	PAR-CLIP	21572407
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT510053	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT510052	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT510051	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT510050	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT536231	hsa-miR-5571-5p	PAR-CLIP	22012620
MIRT270625	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT536230	hsa-miR-3124-3p	PAR-CLIP	22012620
MIRT536229	hsa-miR-7158-5p	PAR-CLIP	22012620
MIRT536228	hsa-miR-6873-3p	PAR-CLIP	22012620
MIRT536227	hsa-miR-4768-5p	PAR-CLIP	22012620
MIRT536226	hsa-miR-6833-3p	PAR-CLIP	22012620
MIRT536225	hsa-miR-514a-3p	PAR-CLIP	22012620
MIRT536224	hsa-miR-514b-3p	PAR-CLIP	22012620
MIRT510055	hsa-miR-3646	PAR-CLIP	23446348
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	23446348
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT510053	hsa-miR-580-5p	PAR-CLIP	23446348
MIRT510055	hsa-miR-3646	PAR-CLIP	23446348
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	23446348
MIRT510053	hsa-miR-580-5p	PAR-CLIP	23446348
MIRT510052	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT510051	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT510050	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT438575	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	26239517
MIRT438575	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	26239517
MIRT735158	hsa-miR-135a-3p	Western blotting	32765697
MIRT736642	hsa-miR-182-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32867570
MIRT724521	hsa-miR-5092	HITS-CLIP	19536157
MIRT724520	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT724519	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT724518	hsa-miR-6844	HITS-CLIP	19536157
MIRT510055	hsa-miR-3646	HITS-CLIP	21572407
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	21572407
MIRT510053	hsa-miR-580-5p	HITS-CLIP	21572407
MIRT510052	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT510050	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT510055	hsa-miR-3646	HITS-CLIP	21572407
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	21572407
MIRT510053	hsa-miR-580-5p	HITS-CLIP	21572407
MIRT510052	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT510050	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT510055	hsa-miR-3646	HITS-CLIP	22927820
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	22927820
MIRT556408	hsa-miR-495-3p	HITS-CLIP	22927820
MIRT556407	hsa-miR-5688	HITS-CLIP	22927820
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	22927820
MIRT510053	hsa-miR-580-5p	HITS-CLIP	22927820
MIRT510052	hsa-miR-410-3p	HITS-CLIP	22927820
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	22927820
MIRT510050	hsa-miR-190a-3p	HITS-CLIP	22927820
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	23313552
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT510053	hsa-miR-580-5p	HITS-CLIP	23313552
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT510055	hsa-miR-3646	HITS-CLIP	23313552
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	23313552
MIRT510052	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT510051	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT510050	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT510055	hsa-miR-3646	HITS-CLIP	23824327
MIRT510054	hsa-miR-1252-3p	HITS-CLIP	23824327
MIRT510049	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT510053	hsa-miR-580-5p	HITS-CLIP	23824327
MIRT510052	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT612802	hsa-miR-8485	HITS-CLIP	23824327
MIRT612803	hsa-miR-8064	HITS-CLIP	23824327
MIRT612802	hsa-miR-8485	HITS-CLIP	23824327
MIRT612803	hsa-miR-8064	HITS-CLIP	23824327
MIRT612802	hsa-miR-8485	HITS-CLIP	23824327
MIRT612803	hsa-miR-8064	HITS-CLIP	23824327
MIRT612802	hsa-miR-8485	HITS-CLIP	23824327
MIRT612803	hsa-miR-8064	HITS-CLIP	23824327
MIRT510055	hsa-miR-3646	PAR-CLIP	20371350
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	20371350
MIRT510053	hsa-miR-580-5p	PAR-CLIP	20371350
MIRT510052	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT510051	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT510050	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT510055	hsa-miR-3646	PAR-CLIP	21572407
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT556408	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT556407	hsa-miR-5688	PAR-CLIP	21572407
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT510053	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT510052	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT510051	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT510050	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT510055	hsa-miR-3646	PAR-CLIP	21572407
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT510053	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT510052	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT510051	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT510050	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT536231	hsa-miR-5571-5p	PAR-CLIP	22012620
MIRT270625	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT536230	hsa-miR-3124-3p	PAR-CLIP	22012620
MIRT536229	hsa-miR-7158-5p	PAR-CLIP	22012620
MIRT536228	hsa-miR-6873-3p	PAR-CLIP	22012620
MIRT536227	hsa-miR-4768-5p	PAR-CLIP	22012620
MIRT536226	hsa-miR-6833-3p	PAR-CLIP	22012620
MIRT536225	hsa-miR-514a-3p	PAR-CLIP	22012620
MIRT536224	hsa-miR-514b-3p	PAR-CLIP	22012620
MIRT510055	hsa-miR-3646	PAR-CLIP	23446348
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	23446348
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT510053	hsa-miR-580-5p	PAR-CLIP	23446348
MIRT510055	hsa-miR-3646	PAR-CLIP	23446348
MIRT510054	hsa-miR-1252-3p	PAR-CLIP	23446348
MIRT510053	hsa-miR-580-5p	PAR-CLIP	23446348
MIRT510052	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT510051	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT510050	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT510049	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT755302	hsa-miR-513c-5p	Luciferase reporter assay, in vitro cullelar assays, Flow cytometry	34930169
MIRT1118129	hsa-miR-1231	CLIP-seq
MIRT1118130	hsa-miR-1243	CLIP-seq
MIRT1118131	hsa-miR-1257	CLIP-seq
MIRT1118132	hsa-miR-1277	CLIP-seq
MIRT1118133	hsa-miR-139-3p	CLIP-seq
MIRT1118134	hsa-miR-188-5p	CLIP-seq
MIRT1118135	hsa-miR-204	CLIP-seq
MIRT1118136	hsa-miR-205	CLIP-seq
MIRT1118137	hsa-miR-211	CLIP-seq
MIRT1118138	hsa-miR-224	CLIP-seq
MIRT1118139	hsa-miR-300	CLIP-seq
MIRT1118140	hsa-miR-3120-3p	CLIP-seq
MIRT1118141	hsa-miR-3132	CLIP-seq
MIRT1118142	hsa-miR-3162-3p	CLIP-seq
MIRT1118143	hsa-miR-3182	CLIP-seq
MIRT1118144	hsa-miR-3183	CLIP-seq
MIRT1118145	hsa-miR-323-3p	CLIP-seq
MIRT1118146	hsa-miR-3613-5p	CLIP-seq
MIRT1118147	hsa-miR-3617	CLIP-seq
MIRT1118148	hsa-miR-362-5p	CLIP-seq
MIRT1118149	hsa-miR-3654	CLIP-seq
MIRT1118150	hsa-miR-3662	CLIP-seq
MIRT1118151	hsa-miR-3679-3p	CLIP-seq
MIRT1118152	hsa-miR-3686	CLIP-seq
MIRT1118153	hsa-miR-374a	CLIP-seq
MIRT1118154	hsa-miR-374b	CLIP-seq
MIRT1118155	hsa-miR-381	CLIP-seq
MIRT1118156	hsa-miR-3925-3p	CLIP-seq
MIRT1118157	hsa-miR-3938	CLIP-seq
MIRT1118158	hsa-miR-3942-5p	CLIP-seq
MIRT1118159	hsa-miR-410	CLIP-seq
MIRT1118160	hsa-miR-4288	CLIP-seq
MIRT1118161	hsa-miR-4291	CLIP-seq
MIRT1118162	hsa-miR-4438	CLIP-seq
MIRT1118163	hsa-miR-4446-5p	CLIP-seq
MIRT1118164	hsa-miR-4451	CLIP-seq
MIRT1118165	hsa-miR-4452	CLIP-seq
MIRT1118166	hsa-miR-4520a-3p	CLIP-seq
MIRT1118167	hsa-miR-4643	CLIP-seq
MIRT1118168	hsa-miR-4659a-3p	CLIP-seq
MIRT1118169	hsa-miR-4659b-3p	CLIP-seq
MIRT1118170	hsa-miR-4666-3p	CLIP-seq
MIRT1118171	hsa-miR-4678	CLIP-seq
MIRT1118172	hsa-miR-4684-5p	CLIP-seq
MIRT1118173	hsa-miR-4694-3p	CLIP-seq
MIRT1118174	hsa-miR-4698	CLIP-seq
MIRT1118175	hsa-miR-4699-3p	CLIP-seq
MIRT1118176	hsa-miR-4703-5p	CLIP-seq
MIRT1118177	hsa-miR-4710	CLIP-seq
MIRT1118178	hsa-miR-4712-3p	CLIP-seq
MIRT1118179	hsa-miR-4712-5p	CLIP-seq
MIRT1118180	hsa-miR-4723-3p	CLIP-seq
MIRT1118181	hsa-miR-4735-5p	CLIP-seq
MIRT1118182	hsa-miR-4764-3p	CLIP-seq
MIRT1118183	hsa-miR-4766-3p	CLIP-seq
MIRT1118184	hsa-miR-4774-5p	CLIP-seq
MIRT1118185	hsa-miR-4777-3p	CLIP-seq
MIRT1118186	hsa-miR-4786-3p	CLIP-seq
MIRT1118187	hsa-miR-4789-5p	CLIP-seq
MIRT1118188	hsa-miR-4796-5p	CLIP-seq
MIRT1118189	hsa-miR-488	CLIP-seq
MIRT1118190	hsa-miR-500b	CLIP-seq
MIRT1118191	hsa-miR-501-5p	CLIP-seq
MIRT1118192	hsa-miR-5095	CLIP-seq
MIRT1118193	hsa-miR-510	CLIP-seq
MIRT1118194	hsa-miR-513a-3p	CLIP-seq
MIRT1118195	hsa-miR-513b	CLIP-seq
MIRT1118196	hsa-miR-518a-3p	CLIP-seq
MIRT1118197	hsa-miR-518b	CLIP-seq
MIRT1118198	hsa-miR-518c	CLIP-seq
MIRT1118199	hsa-miR-518d-3p	CLIP-seq
MIRT1118200	hsa-miR-518f	CLIP-seq
MIRT1118201	hsa-miR-520d-5p	CLIP-seq
MIRT1118202	hsa-miR-524-5p	CLIP-seq
MIRT1118203	hsa-miR-545	CLIP-seq
MIRT1118204	hsa-miR-548c-3p	CLIP-seq
MIRT1118205	hsa-miR-548p	CLIP-seq
MIRT1118206	hsa-miR-548v	CLIP-seq
MIRT1118207	hsa-miR-556-3p	CLIP-seq
MIRT1118208	hsa-miR-561	CLIP-seq
MIRT1118209	hsa-miR-579	CLIP-seq
MIRT1118210	hsa-miR-582-5p	CLIP-seq
MIRT1118211	hsa-miR-583	CLIP-seq
MIRT1118212	hsa-miR-618	CLIP-seq
MIRT1118213	hsa-miR-624	CLIP-seq
MIRT1118214	hsa-miR-632	CLIP-seq
MIRT1118215	hsa-miR-641	CLIP-seq
MIRT1118216	hsa-miR-766	CLIP-seq
MIRT1118217	hsa-miR-770-5p	CLIP-seq
MIRT1550922	hsa-miR-130a	CLIP-seq
MIRT1550923	hsa-miR-130b	CLIP-seq
MIRT1550924	hsa-miR-301a	CLIP-seq
MIRT1550925	hsa-miR-301b	CLIP-seq
MIRT1550926	hsa-miR-3666	CLIP-seq
MIRT1550927	hsa-miR-4295	CLIP-seq
MIRT1550928	hsa-miR-4473	CLIP-seq
MIRT1550929	hsa-miR-448	CLIP-seq
MIRT1550930	hsa-miR-454	CLIP-seq
MIRT1550931	hsa-miR-4671-3p	CLIP-seq
MIRT2033384	hsa-miR-1206	CLIP-seq
MIRT1118129	hsa-miR-1231	CLIP-seq
MIRT2033385	hsa-miR-126	CLIP-seq
MIRT2033386	hsa-miR-1291	CLIP-seq
MIRT2033387	hsa-miR-132	CLIP-seq
MIRT2033388	hsa-miR-137	CLIP-seq
MIRT2033389	hsa-miR-146b-3p	CLIP-seq
MIRT2033390	hsa-miR-15a	CLIP-seq
MIRT2033391	hsa-miR-15b	CLIP-seq
MIRT2033392	hsa-miR-16	CLIP-seq
MIRT2033393	hsa-miR-183	CLIP-seq
MIRT2033394	hsa-miR-195	CLIP-seq
MIRT2033395	hsa-miR-212	CLIP-seq
MIRT2033396	hsa-miR-29a	CLIP-seq
MIRT2033397	hsa-miR-29b	CLIP-seq
MIRT2033398	hsa-miR-29c	CLIP-seq
MIRT2033399	hsa-miR-3117-3p	CLIP-seq
MIRT2033400	hsa-miR-3117-5p	CLIP-seq
MIRT2033401	hsa-miR-3159	CLIP-seq
MIRT2033402	hsa-miR-3165	CLIP-seq
MIRT2033403	hsa-miR-3173-5p	CLIP-seq
MIRT2033404	hsa-miR-3185	CLIP-seq
MIRT2033405	hsa-miR-330-3p	CLIP-seq
MIRT2033406	hsa-miR-338-3p	CLIP-seq
MIRT2033407	hsa-miR-33a	CLIP-seq
MIRT2033408	hsa-miR-33b	CLIP-seq
MIRT2033409	hsa-miR-3591-3p	CLIP-seq
MIRT2033410	hsa-miR-3647-3p	CLIP-seq
MIRT2033411	hsa-miR-3658	CLIP-seq
MIRT1118152	hsa-miR-3686	CLIP-seq
MIRT2033412	hsa-miR-3691-3p	CLIP-seq
MIRT2033413	hsa-miR-3692	CLIP-seq
MIRT2033414	hsa-miR-371b-3p	CLIP-seq
MIRT2033415	hsa-miR-3908	CLIP-seq
MIRT2033416	hsa-miR-3925-5p	CLIP-seq
MIRT2033417	hsa-miR-3977	CLIP-seq
MIRT2033418	hsa-miR-424	CLIP-seq
MIRT2033419	hsa-miR-4265	CLIP-seq
MIRT2033420	hsa-miR-4274	CLIP-seq
MIRT1118160	hsa-miR-4288	CLIP-seq
MIRT2033421	hsa-miR-4296	CLIP-seq
MIRT2033422	hsa-miR-4307	CLIP-seq
MIRT2033423	hsa-miR-4317	CLIP-seq
MIRT2033424	hsa-miR-4318	CLIP-seq
MIRT2033425	hsa-miR-4320	CLIP-seq
MIRT2033426	hsa-miR-4322	CLIP-seq
MIRT2033427	hsa-miR-4323	CLIP-seq
MIRT2033428	hsa-miR-4417	CLIP-seq
MIRT2033429	hsa-miR-4434	CLIP-seq
MIRT2033430	hsa-miR-4503	CLIP-seq
MIRT2033431	hsa-miR-4516	CLIP-seq
MIRT2033432	hsa-miR-4524	CLIP-seq
MIRT2033433	hsa-miR-4530	CLIP-seq
MIRT2033434	hsa-miR-4531	CLIP-seq
MIRT2033435	hsa-miR-4639-5p	CLIP-seq
MIRT1118167	hsa-miR-4643	CLIP-seq
MIRT1118168	hsa-miR-4659a-3p	CLIP-seq
MIRT2033436	hsa-miR-4659a-5p	CLIP-seq
MIRT1118169	hsa-miR-4659b-3p	CLIP-seq
MIRT2033437	hsa-miR-4659b-5p	CLIP-seq
MIRT1118171	hsa-miR-4678	CLIP-seq
MIRT2033438	hsa-miR-4686	CLIP-seq
MIRT2033439	hsa-miR-4690-3p	CLIP-seq
MIRT2033440	hsa-miR-4695-3p	CLIP-seq
MIRT2033441	hsa-miR-4709-3p	CLIP-seq
MIRT1118179	hsa-miR-4712-5p	CLIP-seq
MIRT2033442	hsa-miR-4719	CLIP-seq
MIRT2033443	hsa-miR-4726-3p	CLIP-seq
MIRT2033444	hsa-miR-4729	CLIP-seq
MIRT2033445	hsa-miR-4747-5p	CLIP-seq
MIRT2033446	hsa-miR-4762-3p	CLIP-seq
MIRT2033447	hsa-miR-4762-5p	CLIP-seq
MIRT2033448	hsa-miR-4776-3p	CLIP-seq
MIRT2033449	hsa-miR-4778-3p	CLIP-seq
MIRT2033450	hsa-miR-487b	CLIP-seq
MIRT2033451	hsa-miR-497	CLIP-seq
MIRT2033452	hsa-miR-502-5p	CLIP-seq
MIRT2033453	hsa-miR-503	CLIP-seq
MIRT2033454	hsa-miR-518a-5p	CLIP-seq
MIRT2033455	hsa-miR-527	CLIP-seq
MIRT1118203	hsa-miR-545	CLIP-seq
MIRT1118204	hsa-miR-548c-3p	CLIP-seq
MIRT2033456	hsa-miR-570	CLIP-seq
MIRT1118209	hsa-miR-579	CLIP-seq
MIRT1118210	hsa-miR-582-5p	CLIP-seq
MIRT2033457	hsa-miR-587	CLIP-seq
MIRT2033458	hsa-miR-629	CLIP-seq
MIRT1118214	hsa-miR-632	CLIP-seq
MIRT2033459	hsa-miR-646	CLIP-seq
MIRT2033460	hsa-miR-651	CLIP-seq
MIRT2033461	hsa-miR-767-5p	CLIP-seq
MIRT1118217	hsa-miR-770-5p	CLIP-seq
MIRT2033462	hsa-miR-874	CLIP-seq
MIRT2263804	hsa-miR-1197	CLIP-seq
MIRT2033384	hsa-miR-1206	CLIP-seq
MIRT1118129	hsa-miR-1231	CLIP-seq
MIRT2263805	hsa-miR-124	CLIP-seq
MIRT1118131	hsa-miR-1257	CLIP-seq
MIRT2033385	hsa-miR-126	CLIP-seq
MIRT2263806	hsa-miR-1264	CLIP-seq
MIRT2263807	hsa-miR-1273f	CLIP-seq
MIRT1550922	hsa-miR-130a	CLIP-seq
MIRT1550923	hsa-miR-130b	CLIP-seq
MIRT2263808	hsa-miR-1343	CLIP-seq
MIRT2033388	hsa-miR-137	CLIP-seq
MIRT2263809	hsa-miR-143	CLIP-seq
MIRT2263810	hsa-miR-145	CLIP-seq
MIRT2263811	hsa-miR-148a	CLIP-seq
MIRT2263812	hsa-miR-148b	CLIP-seq
MIRT2263813	hsa-miR-152	CLIP-seq
MIRT2033390	hsa-miR-15a	CLIP-seq
MIRT2033391	hsa-miR-15b	CLIP-seq
MIRT2033392	hsa-miR-16	CLIP-seq
MIRT2033393	hsa-miR-183	CLIP-seq
MIRT2033394	hsa-miR-195	CLIP-seq
MIRT2263814	hsa-miR-214	CLIP-seq
MIRT1118138	hsa-miR-224	CLIP-seq
MIRT2263815	hsa-miR-2277-3p	CLIP-seq
MIRT2033396	hsa-miR-29a	CLIP-seq
MIRT2033397	hsa-miR-29b	CLIP-seq
MIRT2033398	hsa-miR-29c	CLIP-seq
MIRT1550924	hsa-miR-301a	CLIP-seq
MIRT1550925	hsa-miR-301b	CLIP-seq
MIRT2033399	hsa-miR-3117-3p	CLIP-seq
MIRT2033400	hsa-miR-3117-5p	CLIP-seq
MIRT2263816	hsa-miR-3121-5p	CLIP-seq
MIRT2033401	hsa-miR-3159	CLIP-seq
MIRT2033404	hsa-miR-3185	CLIP-seq
MIRT2263817	hsa-miR-3194-3p	CLIP-seq
MIRT2033405	hsa-miR-330-3p	CLIP-seq
MIRT2263818	hsa-miR-337-3p	CLIP-seq
MIRT2033406	hsa-miR-338-3p	CLIP-seq
MIRT2263819	hsa-miR-3607-3p	CLIP-seq
MIRT2263820	hsa-miR-3619-5p	CLIP-seq
MIRT2263821	hsa-miR-3622b-5p	CLIP-seq
MIRT1118148	hsa-miR-362-5p	CLIP-seq
MIRT1118150	hsa-miR-3662	CLIP-seq
MIRT1550926	hsa-miR-3666	CLIP-seq
MIRT1118151	hsa-miR-3679-3p	CLIP-seq
MIRT1118152	hsa-miR-3686	CLIP-seq
MIRT2263822	hsa-miR-3714	CLIP-seq
MIRT2263823	hsa-miR-374c	CLIP-seq
MIRT2263824	hsa-miR-380	CLIP-seq
MIRT2033415	hsa-miR-3908	CLIP-seq
MIRT2263825	hsa-miR-3910	CLIP-seq
MIRT2263826	hsa-miR-3921	CLIP-seq
MIRT2033417	hsa-miR-3977	CLIP-seq
MIRT2033418	hsa-miR-424	CLIP-seq
MIRT2263827	hsa-miR-4251	CLIP-seq
MIRT2033419	hsa-miR-4265	CLIP-seq
MIRT2263828	hsa-miR-4269	CLIP-seq
MIRT2263829	hsa-miR-4276	CLIP-seq
MIRT2263830	hsa-miR-4282	CLIP-seq
MIRT1118160	hsa-miR-4288	CLIP-seq
MIRT1550927	hsa-miR-4295	CLIP-seq
MIRT2033421	hsa-miR-4296	CLIP-seq
MIRT2033423	hsa-miR-4317	CLIP-seq
MIRT2033424	hsa-miR-4318	CLIP-seq
MIRT2263831	hsa-miR-432	CLIP-seq
MIRT2033425	hsa-miR-4320	CLIP-seq
MIRT2033426	hsa-miR-4322	CLIP-seq
MIRT2263832	hsa-miR-4329	CLIP-seq
MIRT2033428	hsa-miR-4417	CLIP-seq
MIRT2263833	hsa-miR-4420	CLIP-seq
MIRT1118165	hsa-miR-4452	CLIP-seq
MIRT1550928	hsa-miR-4473	CLIP-seq
MIRT2263834	hsa-miR-4477b	CLIP-seq
MIRT1550929	hsa-miR-448	CLIP-seq
MIRT2033430	hsa-miR-4503	CLIP-seq
MIRT2263835	hsa-miR-4514	CLIP-seq
MIRT1118166	hsa-miR-4520a-3p	CLIP-seq
MIRT2033433	hsa-miR-4530	CLIP-seq
MIRT1550930	hsa-miR-454	CLIP-seq
MIRT2033435	hsa-miR-4639-5p	CLIP-seq
MIRT1118167	hsa-miR-4643	CLIP-seq
MIRT2263836	hsa-miR-4653-5p	CLIP-seq
MIRT2033436	hsa-miR-4659a-5p	CLIP-seq
MIRT2033437	hsa-miR-4659b-5p	CLIP-seq
MIRT1550931	hsa-miR-4671-3p	CLIP-seq
MIRT1118171	hsa-miR-4678	CLIP-seq
MIRT2033438	hsa-miR-4686	CLIP-seq
MIRT2263837	hsa-miR-4692	CLIP-seq
MIRT2263838	hsa-miR-4697-3p	CLIP-seq
MIRT2263839	hsa-miR-4704-5p	CLIP-seq
MIRT2263840	hsa-miR-4708-5p	CLIP-seq
MIRT2033441	hsa-miR-4709-3p	CLIP-seq
MIRT1118179	hsa-miR-4712-5p	CLIP-seq
MIRT2033442	hsa-miR-4719	CLIP-seq
MIRT2263841	hsa-miR-4720-3p	CLIP-seq
MIRT2033443	hsa-miR-4726-3p	CLIP-seq
MIRT2033444	hsa-miR-4729	CLIP-seq
MIRT2263842	hsa-miR-4742-5p	CLIP-seq
MIRT2033445	hsa-miR-4747-5p	CLIP-seq
MIRT2033446	hsa-miR-4762-3p	CLIP-seq
MIRT2033447	hsa-miR-4762-5p	CLIP-seq
MIRT1118183	hsa-miR-4766-3p	CLIP-seq
MIRT2263843	hsa-miR-4766-5p	CLIP-seq
MIRT2263844	hsa-miR-4770	CLIP-seq
MIRT2263845	hsa-miR-4775	CLIP-seq
MIRT2033448	hsa-miR-4776-3p	CLIP-seq
MIRT2033449	hsa-miR-4778-3p	CLIP-seq
MIRT1118187	hsa-miR-4789-5p	CLIP-seq
MIRT2263846	hsa-miR-4795-3p	CLIP-seq
MIRT2033450	hsa-miR-487b	CLIP-seq
MIRT2033451	hsa-miR-497	CLIP-seq
MIRT1118190	hsa-miR-500b	CLIP-seq
MIRT2033452	hsa-miR-502-5p	CLIP-seq
MIRT2263847	hsa-miR-506	CLIP-seq
MIRT1118193	hsa-miR-510	CLIP-seq
MIRT2263848	hsa-miR-512-5p	CLIP-seq
MIRT1118195	hsa-miR-513b	CLIP-seq
MIRT2033454	hsa-miR-518a-5p	CLIP-seq
MIRT2033455	hsa-miR-527	CLIP-seq
MIRT2263849	hsa-miR-532-5p	CLIP-seq
MIRT1118203	hsa-miR-545	CLIP-seq
MIRT1118204	hsa-miR-548c-3p	CLIP-seq
MIRT2263850	hsa-miR-548l	CLIP-seq
MIRT1118205	hsa-miR-548p	CLIP-seq
MIRT1118206	hsa-miR-548v	CLIP-seq
MIRT2263851	hsa-miR-554	CLIP-seq
MIRT2033456	hsa-miR-570	CLIP-seq
MIRT1118209	hsa-miR-579	CLIP-seq
MIRT1118210	hsa-miR-582-5p	CLIP-seq
MIRT1118211	hsa-miR-583	CLIP-seq
MIRT2033457	hsa-miR-587	CLIP-seq
MIRT2263852	hsa-miR-590-3p	CLIP-seq
MIRT2263853	hsa-miR-599	CLIP-seq
MIRT2263854	hsa-miR-603	CLIP-seq
MIRT2033458	hsa-miR-629	CLIP-seq
MIRT1118214	hsa-miR-632	CLIP-seq
MIRT2263855	hsa-miR-642b	CLIP-seq
MIRT2033460	hsa-miR-651	CLIP-seq
MIRT2263856	hsa-miR-655	CLIP-seq
MIRT2263857	hsa-miR-761	CLIP-seq
MIRT2033461	hsa-miR-767-5p	CLIP-seq
MIRT1118217	hsa-miR-770-5p	CLIP-seq
MIRT2263858	hsa-miR-935	CLIP-seq
MIRT2033384	hsa-miR-1206	CLIP-seq
MIRT1118129	hsa-miR-1231	CLIP-seq
MIRT2033406	hsa-miR-338-3p	CLIP-seq
MIRT2033415	hsa-miR-3908	CLIP-seq
MIRT2033419	hsa-miR-4265	CLIP-seq
MIRT1118160	hsa-miR-4288	CLIP-seq
MIRT2033421	hsa-miR-4296	CLIP-seq
MIRT2033424	hsa-miR-4318	CLIP-seq
MIRT2033426	hsa-miR-4322	CLIP-seq
MIRT2033428	hsa-miR-4417	CLIP-seq
MIRT1118166	hsa-miR-4520a-3p	CLIP-seq
MIRT2390320	hsa-miR-4520b-3p	CLIP-seq
MIRT2033433	hsa-miR-4530	CLIP-seq
MIRT2033445	hsa-miR-4747-5p	CLIP-seq
MIRT1118214	hsa-miR-632	CLIP-seq
MIRT2033460	hsa-miR-651	CLIP-seq
MIRT2453291	hsa-miR-1245b-5p	CLIP-seq
MIRT2453292	hsa-miR-1827	CLIP-seq
MIRT2453293	hsa-miR-1912	CLIP-seq
MIRT1118135	hsa-miR-204	CLIP-seq
MIRT1118137	hsa-miR-211	CLIP-seq
MIRT2453294	hsa-miR-2682	CLIP-seq
MIRT2453295	hsa-miR-296-5p	CLIP-seq
MIRT2453296	hsa-miR-3142	CLIP-seq
MIRT2453297	hsa-miR-3612	CLIP-seq
MIRT2453298	hsa-miR-4257	CLIP-seq
MIRT2263830	hsa-miR-4282	CLIP-seq
MIRT2453299	hsa-miR-4443	CLIP-seq
MIRT1118163	hsa-miR-4446-5p	CLIP-seq
MIRT2453300	hsa-miR-4494	CLIP-seq
MIRT2453301	hsa-miR-449c	CLIP-seq
MIRT2453302	hsa-miR-4755-5p	CLIP-seq
MIRT2453303	hsa-miR-4779	CLIP-seq
MIRT2453304	hsa-miR-499a-5p	CLIP-seq
MIRT1118204	hsa-miR-548c-3p	CLIP-seq
MIRT2453305	hsa-miR-623	CLIP-seq
MIRT2453306	hsa-miR-650	CLIP-seq
MIRT2453307	hsa-miR-765	CLIP-seq
MIRT2453292	hsa-miR-1827	CLIP-seq
MIRT2453294	hsa-miR-2682	CLIP-seq
MIRT2453295	hsa-miR-296-5p	CLIP-seq
MIRT2453297	hsa-miR-3612	CLIP-seq
MIRT2453298	hsa-miR-4257	CLIP-seq
MIRT2453299	hsa-miR-4443	CLIP-seq
MIRT2453301	hsa-miR-449c	CLIP-seq
MIRT2453303	hsa-miR-4779	CLIP-seq
MIRT2453306	hsa-miR-650	CLIP-seq
MIRT2453307	hsa-miR-765	CLIP-seq
MIRT2563070	hsa-miR-3163	CLIP-seq
MIRT1118150	hsa-miR-3662	CLIP-seq
MIRT2563071	hsa-miR-409-3p	CLIP-seq
MIRT1118168	hsa-miR-4659a-3p	CLIP-seq
MIRT1118169	hsa-miR-4659b-3p	CLIP-seq
MIRT2033445	hsa-miR-4747-5p	CLIP-seq
MIRT2033449	hsa-miR-4778-3p	CLIP-seq
MIRT2563072	hsa-miR-580	CLIP-seq
MIRT2563073	hsa-miR-607	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005041	Function	Low-density lipoprotein particle receptor activity	IDA	16263759
GO:0005102	Function	Signaling receptor binding	IPI	14739301
GO:0005109	Function	Frizzled binding	IPI	11029007
GO:0005515	Function	Protein binding	IPI	11029007, 11357136, 11433302, 11448771, 12897152, 15908424, 16365045, 16564009, 16815997, 16890161, 16989816, 17804805, 18528331, 18721193, 18762581, 19107203, 20059949, 20093360, 20093472, 21245321, 21304492, 21471202, 21944579, 21984209, 22491013, 22575959, 22726442, 22899650, 237
GO:0005576	Component	Extracellular region	TAS
GO:0005769	Component	Early endosome	IDA	16890161
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	16890161
GO:0005886	Component	Plasma membrane	IDA	23572575
GO:0005886	Component	Plasma membrane	IDA	16263759, 16890161, 17569865
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IDA	16890161, 17569865
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0009888	Process	Tissue development	IEA
GO:0009986	Component	Cell surface	IDA	12897152
GO:0014029	Process	Neural crest formation	IDA	11029007
GO:0014033	Process	Neural crest cell differentiation	IDA	11029007
GO:0015026	Function	Coreceptor activity	IDA	11029007
GO:0015026	Function	Coreceptor activity	IEA
GO:0015026	Function	Coreceptor activity	NAS	24431302
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IDA	11357136
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0017147	Function	Wnt-protein binding	IEA
GO:0017147	Function	Wnt-protein binding	IPI	11029007, 12897152, 20093360
GO:0017147	Function	Wnt-protein binding	TAS	22988876
GO:0019210	Function	Kinase inhibitor activity	IMP	16365045
GO:0019534	Function	Toxin transmembrane transporter activity	IMP	18350154
GO:0019534	Function	Toxin transmembrane transporter activity	IMP	16564009
GO:0030291	Function	Protein serine/threonine kinase inhibitor activity	IDA	19107203
GO:0030901	Process	Midbrain development	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	16890161, 20093472
GO:0031901	Component	Early endosome membrane	TAS
GO:0034392	Process	Negative regulation of smooth muscle cell apoptotic process	IMP	15271658
GO:0042802	Function	Identical protein binding	IPI	12897152, 21984209
GO:0042803	Function	Protein homodimerization activity	IPI	12897152
GO:0042813	Function	Wnt receptor activity	IDA	11357136
GO:0042813	Function	Wnt receptor activity	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043009	Process	Chordate embryonic development	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045202	Component	Synapse	IEA
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045787	Process	Positive regulation of cell cycle	IMP	15271658
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	18215320
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12857724, 14739301
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	16263759, 16543246
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	11448771, 11742004, 12121999, 14739301, 15271658, 15908424, 16890161, 17239604, 19107203, 20059949, 20093106, 20137080
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IGI	16805831
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	11029007, 16365045, 18215320, 20093472
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	22988876
GO:0071397	Process	Cellular response to cholesterol	IMP	16890161
GO:0071542	Process	Dopaminergic neuron differentiation	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	ISS
GO:0072659	Process	Protein localization to plasma membrane	IPI	22899650
GO:0098609	Process	Cell-cell adhesion	IEA
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	TAS	22988876
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	IDA	20093360
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	IEA
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	IPI	11029007, 11448771
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	TAS	22988876
GO:1990909	Component	Wnt signalosome	IDA	22899650
GO:1990909	Component	Wnt signalosome	NAS	24115276

Other IDs

• MIM: 603507
• HGNC: 6698
• e!Ensembl: ENSG00000070018

Protein

• UniProt ID: O75581
• Protein name: Low-density lipoprotein receptor-related protein 6 (LRP-6)
• Protein function: Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes (PubMed:11357136, PubMed:11448771, PubMed:15778503, PubMed:16341017, PubMe
• PDB: 3S2K, 3S8V, 3S8Z, 3S94, 3SOB, 3SOQ, 3SOV, 4A0P, 4DG6, 4NM5, 4NM7, 5AIR, 5FWW, 5GJE, 6H15, 6H16, 6L6R, 7NAM, 8CTG, 8DVL, 8DVM, 8DVN, 8FFE, 8S7C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00058	Ldl_recept_b	107 → 147	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	150 → 191	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	194 → 234	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	286 → 323		Domain
  PF00058	Ldl_recept_b	372 → 412	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	415 → 455	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	458 → 499	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	592 → 627		Domain
  PF00058	Ldl_recept_b	674 → 714	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	717 → 757	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	760 → 800	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	893 → 929		Domain
  PF00058	Ldl_recept_b	1069 → 1111	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1114 → 1154	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	1247 → 1285	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1286 → 1322	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1324 → 1360	Low-density lipoprotein receptor domain class A	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely coexpressed with LRP5 during embryogenesis and in adult tissues.
• Sequence:

  MGAVLRSLLACSFCVLLRAAPLLLYANRRDLRLVDATNGKENATIVVGGLEDAAAVDFVF
  SHGLIYWSDVSEEAIKRTEFNKTESVQNVVVSGLLSPDGLACDWLGEKLYWTDSETNRIE
  VSNLDGSLRKVLFWQELDQPRAIALDPSSGFMYWTDWGEVPKIERAGMDGSSRFIIINSE
  IYWPNGLTLDYEEQKLYWADAKLNFIHKSNLDGTNRQAVVKGSLPHPFALTLFEDILYWT
  DWSTHSILACNKYTGEGLREIHSDIFSPMDIHAFSQQRQPNATNPCGIDNGGCSHLCLMS
  PVKPFYQCACPTGVKLLENGKTCKDGATELLLLARRTDLRRISLDTPDFTDIVLQLEDIR
  HAIAIDYDPVEGYIYWTDDEVRAIRRSFIDGSGSQFVVTAQIAHPDGIAVDWVARNLYWT
  DTGTDRIEVTRLNGTMRKILISEDLEEPRAIVLDPMVGYMYWTDWGEIPKIERAALDGSD
  RVVLVNTSLGWPNGLALDYDEGKIYWGDAKTDKIEVMNTDGTGRRVLVEDKIPHIFGFTL
  LGDYVYWTDWQRRSIERVHKRSAEREVIIDQLPDLMGLKATNVHRVIGSNPCAEENGGCS
  HLCLYRPQGLRCACPIGFELISDMKTCIVPEAFLLFSRRADIRRISLETNNNNVAIPLTG
  VKEASALDFDVTDNRIYWTDISLKTISRAFMNGSALEHVVEFGLDYPEGMAVDWLGKNLY
  WADTGTNRIEVSKLDGQHRQVLVWKDLDSPRALALDPAEGFMYWTEWGGKPKIDRAAMDG
  SERTTLVPNVGRANGLTIDYAKRRLYWTDLDTNLIESSNMLGLNREVIADDLPHPFGLTQ
  YQDYIYWTDWSRRSIERANKTSGQNRTIIQGHLDYVMDILVFHSSRQSGWNECASSNGHC
  SHLCLAVPVGGFVCGCPAHYSLNADNRTCSAPTTFLLFSQKSAINRMVIDEQQSPDIILP
  IHSLRNVRAIDYDPLDKQLYWIDSRQNMIRKAQEDGSQGFTVVVSSVPSQNLEIQPYDLS
  IDIYSRYIYWTCEATNVINVTRLDGRSVGVVLKGEQDRPRAVVVNPEKGYMYFTNLQERS
  PKIERAALDGTEREVLFFSGLSKPIALALDSRLGKLFWADSDLRRIESSDLSGANRIVLE
  DSNILQPVGLTVFENWLYWIDKQQQMIEKIDMTGREGRTKVQARIAQLSDIHAVKELNLQ
  EYRQHPCAQDNGGCSHICLVKGDGTTRCSCPMHLVLLQDELSCGEPPTCSPQQFTCFTGE
  IDCIPVAWRCDGFTECEDHSDELNCPVCSESQFQCASGQCIDGALRCNGDANCQDKSDEK
  NCEVLCLIDQFRCANGQCIGKHKKCDHNVDCSDKSDELDCYPTEEPAPQATNTVGSVIGV
  IVTIFVSGTVYFICQRMLCPRMKGDGETMTNDYVVHGPASVPLGYVPHPSSLSGSLPGMS
  RGKSMISSLSIMGGSSGPPYDRAHVTGASSSSSSSTKGTYFPAILNPPPSPATERSHYTM
  EFGYSSNSPSTHRSYSYRPYSYRHFAPPTTPCSTDVCDSDYAPSRRMTSVATAKGYTSDL
  NYDSEPVPPPPTPRSQYLSAEENYESCPPSPYTERSYSHHLYPPPPSPCTDSS

• Sequence length: 1613

Pathways

KEGG:

mTOR signaling pathway
Wnt signaling pathway
Parathyroid hormone synthesis, secretion and action
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Pathways in cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Regulation of FZD by ubiquitination
RNF mutants show enhanced WNT signaling and proliferation

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
Autosomal dominant polycystic liver disease	Likely pathogenic	rs2137042982	RCV001844914	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coronary artery disease, autosomal dominant 2	Pathogenic	rs121918313, rs1591901585	RCV000006645 RCV002487878	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LRP6-related disorder	Pathogenic; Likely pathogenic	rs121918313, rs2498684078	RCV003421908 RCV003414448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Pathogenic	rs2498872352, rs2498879920, rs1591901585	RCV003096093 RCV003096094 RCV000850307	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofacial cleft	Pathogenic	rs869320635	RCV000210778	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tooth agenesis	Pathogenic; Likely pathogenic	rs869320635, rs869320640, rs869320636, rs866789963, rs869320639, rs869320637	RCV000210778 RCV001782698 RCV001782693 RCV001782697 RCV001782696 RCV001782694	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tooth agenesis, selective, 7	Pathogenic; Likely pathogenic	rs1950023882, rs2136998055, rs2136919683, rs374598321, rs2135918018, rs2136885834, rs2498879920, rs2498742907, rs864309647, rs864309649, rs869320636, rs1565563080, rs2498598217, rs1184430122, rs1565611848, rs1591901585, rs1863335460	RCV001335932 RCV001836616 RCV001724716 RCV001724717 RCV001795574 RCV001837729 RCV006270245 RCV002471539 RCV000203225 RCV000203223 RCV001836754 RCV003388928 RCV003314062 RCV005412581 RCV001784372 RCV002487878 RCV003145405	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant polycystic kidney disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary artery disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized hypopigmentation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodontia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sparse scalp hair	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE NEGATIVE BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	25500543		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29408853		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	23866946	Associate	★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30976847		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	16384981, 26476672		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	16384981		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34180138	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	17517621		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30567484		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	31656088		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	26387593, 26963285, 27049303, 28813618, 31914153, 36017684	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	32799327	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	19833493, 21245321, 30039844, 31679626		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30809197		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19833493, 21245321, 30039844, 31679626		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	21245321, 35840698	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30474181		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26173102, 30953817		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	26048454		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	27310953	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24584697, 33118644, 35840698	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	26031789	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19881541, 20194742, 28427938, 31010839		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22820499, 23666756, 27323693, 29444668, 36456194, 37175248	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24704686, 24843317, 25500543, 29949156, 37175248	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24704686, 28870205	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26173102, 30953817		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26224368	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24843317	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29864925		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31679626		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37175248	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26031789	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	26031789		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31031810		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34180138	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31836665	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17255260, 25500543, 26901136, 27713038, 28387660, 29135090, 29312635, 31257454, 31412666, 31485167, 31588233		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	25500543		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25500543, 26901136, 28387660, 29135090	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	28417262		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	22490400, 27455246, 30039844, 30567484		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17332414, 22490400, 23703864, 24427284, 26489464, 27455246, 30039844, 30567484		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17332414		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	18493104, 23703864, 24427284, 27455246	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21245321	Stimulate	★☆☆☆☆ Found in Text Mining only
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)	Coronary artery disease	UNIPROT_DG	17332414, 23703864		★☆☆☆☆ Found in Text Mining only
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)	Coronary artery disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)	Coronary artery disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17332414, 22490400, 27455246, 30039844, 30567484		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22393312	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	24994854		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18493104	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29135090	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21876774, 9704021		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29135090		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37681455	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21237163, 21876774		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21576363, 22891217		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	27049303, 36553593	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30594556		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20658532, 32945478, 35655441	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	39512695	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	15516984		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	40055364	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25301448		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25301448		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28042322	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31679626		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	31679626		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30039844		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	18493104	Associate	★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	31085352		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18493104	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	37681455	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	26387593, 30950205, 31564437		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodontia	Hypodontia	ORPHANET_DG	26387593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodontia	Hypodontia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypophosphatasia	Hypophosphatasia	BEFREE	30555565		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18478089	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26031789		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10036184		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25213837	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22570728, 25240815, 25491321, 28870205, 30109182, 30583072, 31031810		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30109182		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28880263	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	38250152	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19881541, 20194742, 28427938, 31010839		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30594556		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27919787		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31262711		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21645513		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26173102, 30953817		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15516984, 17103032, 17255260, 19549913, 20713706, 23666756, 27162353, 28387660, 28418856, 28696417, 31031810		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30474181		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	23703864, 25651180, 26797284, 35840698	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23703864, 28696417, 30039844		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	20846389, 34216957	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24906453		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	24906453	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28059551	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19549913, 28880263, 30109182		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	24203697, 25546815, 28960852		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22899650	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	27345717		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	27345717	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Metabolic syndrome	Metabolic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31638173		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31031810		★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	30513418		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	26387593, 30950205, 31564437		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Oligodontia	ORPHANET_DG	26387593		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Oligodontia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofacial Cleft 1	Orofacial cleft	Pubtator	26963285	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	31480018, 33596325	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	31564437		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28935557		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	16355283, 18349089, 20926594, 28696417		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	18349089, 18493104, 20926594, 33118644, 35840698	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	BEFREE	12204281, 27780792		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31396323		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	31085352		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27919787		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26224368	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28341812		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31262711		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23302227	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28418602		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30136377		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	24289859	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23546988		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	25546815		★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	20926594	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28880263		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20658532		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28880263	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31031810		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31097406		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21645513		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27893427	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	26031789	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29949156	Associate	★☆☆☆☆ Found in Text Mining only
TOOTH AGENESIS, SELECTIVE, 7	Tooth Agenesis	UNIPROT_DG	26387593		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TOOTH AGENESIS, SELECTIVE, 7	Tooth Agenesis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TOOTH AGENESIS, SELECTIVE, 7	Tooth Agenesis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21898546, 24392029, 29091885, 29854300, 31031810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24392029, 28247948	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	CTD_human_DG	24552774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	17255260		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26173102	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26173102	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	38250152	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	30411539	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30582454		★☆☆☆☆ Found in Text Mining only