IGF2R (insulin like growth factor 2 receptor)

Gene

• Entrez ID: 3482
• Gene name: Insulin like growth factor 2 receptor
• Gene symbol: IGF2R
• Synonyms (NCBI Gene): CD222, CI-M6PR, CIMPR, M6P-R, M6P/IGF2R, MPR 300, MPR1, MPR300, MPRI
• Chromosome: 6
• Chromosome location: 6q25.3
• Summary: This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434587	G>T	Pathogenic	Missense variant, coding sequence variant
rs121434588	G>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001451	hsa-miR-16-5p	pSILAC	18668040
MIRT016136	hsa-miR-657	Reporter assay	18602895
MIRT020747	hsa-miR-155-5p	Proteomics	18668040
MIRT021356	hsa-miR-9-5p	Microarray	17612493
MIRT029460	hsa-miR-26b-5p	Microarray	19088304
MIRT001451	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT045878	hsa-miR-128-3p	CLASH	23622248
MIRT042556	hsa-miR-423-3p	CLASH	23622248
MIRT036067	hsa-miR-1271-5p	CLASH	23622248
MIRT054454	hsa-miR-211-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24039954
MIRT713900	hsa-miR-649	HITS-CLIP	19536157
MIRT713899	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT713898	hsa-miR-6715a-3p	HITS-CLIP	19536157
MIRT713896	hsa-miR-6715b-3p	HITS-CLIP	19536157
MIRT713895	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT713918	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT713917	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT713916	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT713915	hsa-miR-6895-5p	HITS-CLIP	19536157
MIRT713914	hsa-miR-4512	HITS-CLIP	19536157
MIRT713913	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT713912	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT713911	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT713910	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT713909	hsa-miR-3666	HITS-CLIP	19536157
MIRT713908	hsa-miR-4295	HITS-CLIP	19536157
MIRT713907	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT713906	hsa-miR-3146	HITS-CLIP	19536157
MIRT713905	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT679245	hsa-miR-6089	HITS-CLIP	19536157
MIRT713904	hsa-miR-4480	HITS-CLIP	19536157
MIRT713903	hsa-miR-6877-5p	HITS-CLIP	19536157
MIRT713902	hsa-miR-1296-5p	HITS-CLIP	19536157
MIRT713901	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT713900	hsa-miR-649	HITS-CLIP	19536157
MIRT713899	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT713898	hsa-miR-6715a-3p	HITS-CLIP	19536157
MIRT713897	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT713896	hsa-miR-6715b-3p	HITS-CLIP	19536157
MIRT713895	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT607437	hsa-miR-8485	HITS-CLIP	22927820
MIRT672626	hsa-miR-6777-3p	HITS-CLIP	22927820
MIRT672625	hsa-miR-342-3p	HITS-CLIP	22927820
MIRT440462	hsa-miR-377-3p	HITS-CLIP	22927820
MIRT607437	hsa-miR-8485	HITS-CLIP	23824327
MIRT672625	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT440462	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT672624	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT679245	hsa-miR-6089	HITS-CLIP	23824327
MIRT672616	hsa-miR-4284	HITS-CLIP	23824327
MIRT672617	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672614	hsa-miR-7977	HITS-CLIP	23824327
MIRT607437	hsa-miR-8485	HITS-CLIP	23824327
MIRT672626	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT672625	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT440462	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT607437	hsa-miR-8485	HITS-CLIP	23824327
MIRT672626	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT672625	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT440462	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT672624	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT672623	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT672622	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT672621	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT672620	hsa-miR-612	HITS-CLIP	23824327
MIRT672619	hsa-miR-6860	HITS-CLIP	23824327
MIRT672618	hsa-miR-564	HITS-CLIP	23824327
MIRT672616	hsa-miR-4284	HITS-CLIP	23824327
MIRT672617	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672614	hsa-miR-7977	HITS-CLIP	23824327
MIRT607437	hsa-miR-8485	HITS-CLIP	23824327
MIRT607437	hsa-miR-8485	HITS-CLIP	24906430
MIRT457094	hsa-miR-548m	PAR-CLIP	23592263
MIRT457093	hsa-miR-2681-3p	PAR-CLIP	23592263
MIRT457092	hsa-miR-96-3p	PAR-CLIP	23592263
MIRT316722	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT440463	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440462	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT440461	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440463	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440462	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT440461	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT607437	hsa-miR-8485	HITS-CLIP	27418678
MIRT607437	hsa-miR-8485	HITS-CLIP	27418678
MIRT735290	hsa-miR-28-3p	qRT-PCR	32425976
MIRT713900	hsa-miR-649	HITS-CLIP	19536157
MIRT713899	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT713898	hsa-miR-6715a-3p	HITS-CLIP	19536157
MIRT713896	hsa-miR-6715b-3p	HITS-CLIP	19536157
MIRT713895	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT713918	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT713917	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT713916	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT713915	hsa-miR-6895-5p	HITS-CLIP	19536157
MIRT713914	hsa-miR-4512	HITS-CLIP	19536157
MIRT713913	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT713912	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT713911	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT713910	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT713909	hsa-miR-3666	HITS-CLIP	19536157
MIRT713908	hsa-miR-4295	HITS-CLIP	19536157
MIRT713907	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT713906	hsa-miR-3146	HITS-CLIP	19536157
MIRT713905	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT679245	hsa-miR-6089	HITS-CLIP	19536157
MIRT713904	hsa-miR-4480	HITS-CLIP	19536157
MIRT713903	hsa-miR-6877-5p	HITS-CLIP	19536157
MIRT713902	hsa-miR-1296-5p	HITS-CLIP	19536157
MIRT713901	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT713900	hsa-miR-649	HITS-CLIP	19536157
MIRT713899	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT713898	hsa-miR-6715a-3p	HITS-CLIP	19536157
MIRT713897	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT713896	hsa-miR-6715b-3p	HITS-CLIP	19536157
MIRT713895	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT607437	hsa-miR-8485	HITS-CLIP	22927820
MIRT672626	hsa-miR-6777-3p	HITS-CLIP	22927820
MIRT672625	hsa-miR-342-3p	HITS-CLIP	22927820
MIRT440462	hsa-miR-377-3p	HITS-CLIP	22927820
MIRT607437	hsa-miR-8485	HITS-CLIP	23824327
MIRT672625	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT440462	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT672624	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT679245	hsa-miR-6089	HITS-CLIP	23824327
MIRT672616	hsa-miR-4284	HITS-CLIP	23824327
MIRT672617	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672614	hsa-miR-7977	HITS-CLIP	23824327
MIRT607437	hsa-miR-8485	HITS-CLIP	23824327
MIRT672626	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT672625	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT440462	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT607437	hsa-miR-8485	HITS-CLIP	23824327
MIRT672626	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT672625	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT440462	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT672624	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT672623	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT672622	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT672621	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT672620	hsa-miR-612	HITS-CLIP	23824327
MIRT672619	hsa-miR-6860	HITS-CLIP	23824327
MIRT672618	hsa-miR-564	HITS-CLIP	23824327
MIRT672616	hsa-miR-4284	HITS-CLIP	23824327
MIRT672617	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672614	hsa-miR-7977	HITS-CLIP	23824327
MIRT607437	hsa-miR-8485	HITS-CLIP	23824327
MIRT457094	hsa-miR-548m	PAR-CLIP	23592263
MIRT457093	hsa-miR-2681-3p	PAR-CLIP	23592263
MIRT457092	hsa-miR-96-3p	PAR-CLIP	23592263
MIRT316722	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT1062022	hsa-miR-1205	CLIP-seq
MIRT1062023	hsa-miR-1207-5p	CLIP-seq
MIRT1062024	hsa-miR-1228	CLIP-seq
MIRT1062025	hsa-miR-1266	CLIP-seq
MIRT1062026	hsa-miR-1296	CLIP-seq
MIRT1062027	hsa-miR-130a	CLIP-seq
MIRT1062028	hsa-miR-130b	CLIP-seq
MIRT1062029	hsa-miR-1470	CLIP-seq
MIRT1062030	hsa-miR-1471	CLIP-seq
MIRT1062031	hsa-miR-15a	CLIP-seq
MIRT1062032	hsa-miR-15b	CLIP-seq
MIRT1062033	hsa-miR-16	CLIP-seq
MIRT1062034	hsa-miR-1909	CLIP-seq
MIRT1062035	hsa-miR-1913	CLIP-seq
MIRT1062036	hsa-miR-195	CLIP-seq
MIRT1062037	hsa-miR-1973	CLIP-seq
MIRT1062038	hsa-miR-19a	CLIP-seq
MIRT1062039	hsa-miR-19b	CLIP-seq
MIRT1062040	hsa-miR-22	CLIP-seq
MIRT1062041	hsa-miR-224	CLIP-seq
MIRT1062042	hsa-miR-2277-3p	CLIP-seq
MIRT1062043	hsa-miR-2681	CLIP-seq
MIRT1062044	hsa-miR-300	CLIP-seq
MIRT1062045	hsa-miR-301a	CLIP-seq
MIRT1062046	hsa-miR-301b	CLIP-seq
MIRT1062047	hsa-miR-3141	CLIP-seq
MIRT1062048	hsa-miR-3189-5p	CLIP-seq
MIRT1062049	hsa-miR-3194-3p	CLIP-seq
MIRT1062050	hsa-miR-324-3p	CLIP-seq
MIRT1062051	hsa-miR-331-3p	CLIP-seq
MIRT1062052	hsa-miR-338-3p	CLIP-seq
MIRT1062053	hsa-miR-3591-3p	CLIP-seq
MIRT1062054	hsa-miR-3605-3p	CLIP-seq
MIRT1062055	hsa-miR-3660	CLIP-seq
MIRT1062056	hsa-miR-3662	CLIP-seq
MIRT1062057	hsa-miR-3671	CLIP-seq
MIRT1062058	hsa-miR-3689d	CLIP-seq
MIRT1062059	hsa-miR-370	CLIP-seq
MIRT1062060	hsa-miR-377	CLIP-seq
MIRT1062061	hsa-miR-381	CLIP-seq
MIRT1062062	hsa-miR-3942-5p	CLIP-seq
MIRT1062063	hsa-miR-3977	CLIP-seq
MIRT1062064	hsa-miR-421	CLIP-seq
MIRT1062065	hsa-miR-424	CLIP-seq
MIRT1062066	hsa-miR-4258	CLIP-seq
MIRT1062067	hsa-miR-4269	CLIP-seq
MIRT1062068	hsa-miR-4422	CLIP-seq
MIRT1062069	hsa-miR-4443	CLIP-seq
MIRT1062070	hsa-miR-4449	CLIP-seq
MIRT1062071	hsa-miR-4469	CLIP-seq
MIRT1062072	hsa-miR-4518	CLIP-seq
MIRT1062073	hsa-miR-4526	CLIP-seq
MIRT1062074	hsa-miR-4530	CLIP-seq
MIRT1062075	hsa-miR-454	CLIP-seq
MIRT1062076	hsa-miR-4635	CLIP-seq
MIRT1062077	hsa-miR-4659a-3p	CLIP-seq
MIRT1062078	hsa-miR-4659b-3p	CLIP-seq
MIRT1062079	hsa-miR-4666-3p	CLIP-seq
MIRT1062080	hsa-miR-4667-3p	CLIP-seq
MIRT1062081	hsa-miR-4687-3p	CLIP-seq
MIRT1062082	hsa-miR-4699-5p	CLIP-seq
MIRT1062083	hsa-miR-4703-5p	CLIP-seq
MIRT1062084	hsa-miR-4709-3p	CLIP-seq
MIRT1062085	hsa-miR-4718	CLIP-seq
MIRT1062086	hsa-miR-4736	CLIP-seq
MIRT1062087	hsa-miR-4758-3p	CLIP-seq
MIRT1062088	hsa-miR-4763-3p	CLIP-seq
MIRT1062089	hsa-miR-4773	CLIP-seq
MIRT1062090	hsa-miR-4796-5p	CLIP-seq
MIRT1062091	hsa-miR-497	CLIP-seq
MIRT1062092	hsa-miR-499-3p	CLIP-seq
MIRT1062093	hsa-miR-499a-3p	CLIP-seq
MIRT1062094	hsa-miR-510	CLIP-seq
MIRT1062095	hsa-miR-519a	CLIP-seq
MIRT1062096	hsa-miR-545	CLIP-seq
MIRT1062097	hsa-miR-553	CLIP-seq
MIRT1062098	hsa-miR-582-3p	CLIP-seq
MIRT1062099	hsa-miR-603	CLIP-seq
MIRT1062100	hsa-miR-636	CLIP-seq
MIRT1062101	hsa-miR-642b	CLIP-seq
MIRT1062102	hsa-miR-647	CLIP-seq
MIRT1062103	hsa-miR-659	CLIP-seq
MIRT1062104	hsa-miR-766	CLIP-seq
MIRT1062105	hsa-miR-9	CLIP-seq
MIRT1062044	hsa-miR-300	CLIP-seq
MIRT1062053	hsa-miR-3591-3p	CLIP-seq
MIRT1062061	hsa-miR-381	CLIP-seq
MIRT1062062	hsa-miR-3942-5p	CLIP-seq
MIRT1062079	hsa-miR-4666-3p	CLIP-seq
MIRT1062083	hsa-miR-4703-5p	CLIP-seq
MIRT1062089	hsa-miR-4773	CLIP-seq
MIRT1062090	hsa-miR-4796-5p	CLIP-seq
MIRT1062029	hsa-miR-1470	CLIP-seq
MIRT2014652	hsa-miR-203	CLIP-seq
MIRT2014653	hsa-miR-205	CLIP-seq
MIRT1062052	hsa-miR-338-3p	CLIP-seq
MIRT2014654	hsa-miR-3607-3p	CLIP-seq
MIRT2014655	hsa-miR-361-3p	CLIP-seq
MIRT2014656	hsa-miR-3620	CLIP-seq
MIRT1062060	hsa-miR-377	CLIP-seq
MIRT2014657	hsa-miR-412	CLIP-seq
MIRT2014658	hsa-miR-4311	CLIP-seq
MIRT2014659	hsa-miR-4452	CLIP-seq
MIRT1062071	hsa-miR-4469	CLIP-seq
MIRT2014660	hsa-miR-4484	CLIP-seq
MIRT1062074	hsa-miR-4530	CLIP-seq
MIRT1062080	hsa-miR-4667-3p	CLIP-seq
MIRT1062086	hsa-miR-4736	CLIP-seq
MIRT2014661	hsa-miR-548an	CLIP-seq
MIRT2014662	hsa-miR-548p	CLIP-seq
MIRT2014663	hsa-miR-653	CLIP-seq
MIRT1062104	hsa-miR-766	CLIP-seq
MIRT1062105	hsa-miR-9	CLIP-seq
MIRT1062022	hsa-miR-1205	CLIP-seq
MIRT2246599	hsa-miR-1273f	CLIP-seq
MIRT2246600	hsa-miR-1283	CLIP-seq
MIRT2246601	hsa-miR-143	CLIP-seq
MIRT1062031	hsa-miR-15a	CLIP-seq
MIRT1062032	hsa-miR-15b	CLIP-seq
MIRT1062033	hsa-miR-16	CLIP-seq
MIRT1062034	hsa-miR-1909	CLIP-seq
MIRT1062036	hsa-miR-195	CLIP-seq
MIRT1062038	hsa-miR-19a	CLIP-seq
MIRT1062039	hsa-miR-19b	CLIP-seq
MIRT2014653	hsa-miR-205	CLIP-seq
MIRT1062041	hsa-miR-224	CLIP-seq
MIRT2246602	hsa-miR-2861	CLIP-seq
MIRT1062044	hsa-miR-300	CLIP-seq
MIRT2246603	hsa-miR-3126-5p	CLIP-seq
MIRT1062047	hsa-miR-3141	CLIP-seq
MIRT2246604	hsa-miR-3151	CLIP-seq
MIRT1062049	hsa-miR-3194-3p	CLIP-seq
MIRT1062053	hsa-miR-3591-3p	CLIP-seq
MIRT2014654	hsa-miR-3607-3p	CLIP-seq
MIRT2014656	hsa-miR-3620	CLIP-seq
MIRT1062057	hsa-miR-3671	CLIP-seq
MIRT2246605	hsa-miR-3686	CLIP-seq
MIRT1062060	hsa-miR-377	CLIP-seq
MIRT1062061	hsa-miR-381	CLIP-seq
MIRT2246606	hsa-miR-3929	CLIP-seq
MIRT1062062	hsa-miR-3942-5p	CLIP-seq
MIRT1062063	hsa-miR-3977	CLIP-seq
MIRT2014657	hsa-miR-412	CLIP-seq
MIRT1062065	hsa-miR-424	CLIP-seq
MIRT2014658	hsa-miR-4311	CLIP-seq
MIRT2246607	hsa-miR-4419a	CLIP-seq
MIRT2246608	hsa-miR-4419b	CLIP-seq
MIRT1062068	hsa-miR-4422	CLIP-seq
MIRT2246609	hsa-miR-4476	CLIP-seq
MIRT2246610	hsa-miR-4478	CLIP-seq
MIRT2246611	hsa-miR-4481	CLIP-seq
MIRT2014660	hsa-miR-4484	CLIP-seq
MIRT2246612	hsa-miR-4510	CLIP-seq
MIRT2246613	hsa-miR-4533	CLIP-seq
MIRT1062076	hsa-miR-4635	CLIP-seq
MIRT2246614	hsa-miR-4652-3p	CLIP-seq
MIRT1062077	hsa-miR-4659a-3p	CLIP-seq
MIRT1062078	hsa-miR-4659b-3p	CLIP-seq
MIRT1062079	hsa-miR-4666-3p	CLIP-seq
MIRT1062082	hsa-miR-4699-5p	CLIP-seq
MIRT1062083	hsa-miR-4703-5p	CLIP-seq
MIRT2246615	hsa-miR-4708-5p	CLIP-seq
MIRT1062084	hsa-miR-4709-3p	CLIP-seq
MIRT1062086	hsa-miR-4736	CLIP-seq
MIRT2246616	hsa-miR-4745-5p	CLIP-seq
MIRT2246617	hsa-miR-4770	CLIP-seq
MIRT1062089	hsa-miR-4773	CLIP-seq
MIRT2246618	hsa-miR-4790-3p	CLIP-seq
MIRT1062090	hsa-miR-4796-5p	CLIP-seq
MIRT1062091	hsa-miR-497	CLIP-seq
MIRT1062096	hsa-miR-545	CLIP-seq
MIRT2014661	hsa-miR-548an	CLIP-seq
MIRT2014662	hsa-miR-548p	CLIP-seq
MIRT1062099	hsa-miR-603	CLIP-seq
MIRT2246619	hsa-miR-873	CLIP-seq
MIRT1062029	hsa-miR-1470	CLIP-seq
MIRT1062060	hsa-miR-377	CLIP-seq
MIRT1062071	hsa-miR-4469	CLIP-seq
MIRT1062080	hsa-miR-4667-3p	CLIP-seq
MIRT1062086	hsa-miR-4736	CLIP-seq
MIRT1062060	hsa-miR-377	CLIP-seq
MIRT2550512	hsa-miR-1200	CLIP-seq
MIRT1062023	hsa-miR-1207-5p	CLIP-seq
MIRT2550513	hsa-miR-1226	CLIP-seq
MIRT1062024	hsa-miR-1228	CLIP-seq
MIRT2550514	hsa-miR-18a	CLIP-seq
MIRT2550515	hsa-miR-18b	CLIP-seq
MIRT2550516	hsa-miR-197	CLIP-seq
MIRT1062042	hsa-miR-2277-3p	CLIP-seq
MIRT1062043	hsa-miR-2681	CLIP-seq
MIRT1062049	hsa-miR-3194-3p	CLIP-seq
MIRT1062059	hsa-miR-370	CLIP-seq
MIRT1062060	hsa-miR-377	CLIP-seq
MIRT2550517	hsa-miR-3944-5p	CLIP-seq
MIRT2550518	hsa-miR-4426	CLIP-seq
MIRT2014659	hsa-miR-4452	CLIP-seq
MIRT1062076	hsa-miR-4635	CLIP-seq
MIRT2550519	hsa-miR-4647	CLIP-seq
MIRT2550520	hsa-miR-4662b	CLIP-seq
MIRT1062081	hsa-miR-4687-3p	CLIP-seq
MIRT1062082	hsa-miR-4699-5p	CLIP-seq
MIRT1062084	hsa-miR-4709-3p	CLIP-seq
MIRT2550521	hsa-miR-4733-3p	CLIP-seq
MIRT2550522	hsa-miR-4735-3p	CLIP-seq
MIRT1062086	hsa-miR-4736	CLIP-seq
MIRT1062088	hsa-miR-4763-3p	CLIP-seq
MIRT1062092	hsa-miR-499-3p	CLIP-seq
MIRT1062093	hsa-miR-499a-3p	CLIP-seq
MIRT2550523	hsa-miR-513c	CLIP-seq
MIRT2550524	hsa-miR-514b-5p	CLIP-seq
MIRT1062097	hsa-miR-553	CLIP-seq
MIRT1062098	hsa-miR-582-3p	CLIP-seq
MIRT1062105	hsa-miR-9	CLIP-seq
MIRT2550512	hsa-miR-1200	CLIP-seq
MIRT1062023	hsa-miR-1207-5p	CLIP-seq
MIRT1062024	hsa-miR-1228	CLIP-seq
MIRT2550514	hsa-miR-18a	CLIP-seq
MIRT2550515	hsa-miR-18b	CLIP-seq
MIRT1062042	hsa-miR-2277-3p	CLIP-seq
MIRT1062043	hsa-miR-2681	CLIP-seq
MIRT2682668	hsa-miR-3144-5p	CLIP-seq
MIRT1062049	hsa-miR-3194-3p	CLIP-seq
MIRT2682669	hsa-miR-3622a-5p	CLIP-seq
MIRT1062059	hsa-miR-370	CLIP-seq
MIRT2682670	hsa-miR-3910	CLIP-seq
MIRT2550517	hsa-miR-3944-5p	CLIP-seq
MIRT2682671	hsa-miR-4423-3p	CLIP-seq
MIRT2550518	hsa-miR-4426	CLIP-seq
MIRT2682672	hsa-miR-4470	CLIP-seq
MIRT2014660	hsa-miR-4484	CLIP-seq
MIRT2682673	hsa-miR-4509	CLIP-seq
MIRT1062076	hsa-miR-4635	CLIP-seq
MIRT2550519	hsa-miR-4647	CLIP-seq
MIRT2550520	hsa-miR-4662b	CLIP-seq
MIRT1062081	hsa-miR-4687-3p	CLIP-seq
MIRT1062082	hsa-miR-4699-5p	CLIP-seq
MIRT1062084	hsa-miR-4709-3p	CLIP-seq
MIRT2550522	hsa-miR-4735-3p	CLIP-seq
MIRT1062086	hsa-miR-4736	CLIP-seq
MIRT2682674	hsa-miR-4742-5p	CLIP-seq
MIRT1062088	hsa-miR-4763-3p	CLIP-seq
MIRT1062089	hsa-miR-4773	CLIP-seq
MIRT1062092	hsa-miR-499-3p	CLIP-seq
MIRT1062093	hsa-miR-499a-3p	CLIP-seq
MIRT2550523	hsa-miR-513c	CLIP-seq
MIRT2550524	hsa-miR-514b-5p	CLIP-seq
MIRT2682675	hsa-miR-515-5p	CLIP-seq
MIRT2682676	hsa-miR-542-5p	CLIP-seq
MIRT2014661	hsa-miR-548an	CLIP-seq
MIRT1062097	hsa-miR-553	CLIP-seq
MIRT1062098	hsa-miR-582-3p	CLIP-seq
MIRT1062105	hsa-miR-9	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
USF2	Activation	12857727

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001889	Process	Liver development	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IEA
GO:0001972	Function	Retinoic acid binding	IEA
GO:0005010	Function	Insulin-like growth factor receptor activity	TAS	10799489
GO:0005515	Function	Protein binding	IDA	10900005
GO:0005515	Function	Protein binding	IPI	10900005, 11387475, 11390366, 16977309, 17850746, 18046459, 37100772, 37158588, 37219487
GO:0005520	Function	Insulin-like growth factor binding	IBA
GO:0005520	Function	Insulin-like growth factor binding	IEA
GO:0005537	Function	D-mannose binding	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005641	Component	Nuclear envelope lumen	IEA
GO:0005768	Component	Endosome	IDA	15078902
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IMP	17959629
GO:0005770	Component	Late endosome	IBA
GO:0005770	Component	Late endosome	IDA	22456507
GO:0005770	Component	Late endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA	18817523
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005802	Component	Trans-Golgi network	IMP	17959629
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	10799489
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006898	Process	Receptor-mediated endocytosis	TAS	10799489
GO:0007041	Process	Lysosomal transport	IBA
GO:0007041	Process	Lysosomal transport	IEA
GO:0007165	Process	Signal transduction	TAS	7753549
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0009986	Component	Cell surface	IDA	10900005
GO:0010008	Component	Endosome membrane	IDA	18817523
GO:0010008	Component	Endosome membrane	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0030118	Component	Clathrin coat	IEA
GO:0030133	Component	Transport vesicle	TAS
GO:0030139	Component	Endocytic vesicle	IDA	10900005
GO:0030140	Component	Trans-Golgi network transport vesicle	IDA	15078902
GO:0030667	Component	Secretory granule membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031995	Function	Insulin-like growth factor II binding	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	TAS	7753549
GO:0042802	Function	Identical protein binding	IPI	22681933
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0044794	Process	Host-mediated activation of viral process	IMP	20889566
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051219	Function	Phosphoprotein binding	IDA	10900005
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904772	Process	Response to tetrachloromethane	IEA
GO:1905394	Function	Retromer complex binding	IDA	18817523

Other IDs

• MIM: 147280
• HGNC: 5467
• e!Ensembl: ENSG00000197081

Protein

• UniProt ID: P11717
• Protein name: Cation-independent mannose-6-phosphate receptor (CI Man-6-P receptor) (CI-MPR) (M6PR) (300 kDa mannose 6-phosphate receptor) (MPR 300) (Insulin-like growth factor 2 receptor) (Insulin-like growth factor II receptor) (IGF-II receptor) (M6P/IGF2 receptor) (
• Protein function: Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:18817523, PubMed:2963003). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate re
• PDB: 1E6F, 1GP0, 1GP3, 1GQB, 1JPL, 1JWG, 1LF8, 2CNJ, 2L29, 2L2A, 2M68, 2M6T, 2V5N, 2V5O, 2V5P, 5IEI, 6N5X, 6N5Y, 6P8I, 6V02, 6Z30, 6Z31, 6Z32, 8AFZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00878	CIMR	123 → 270	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	277 → 421	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	423 → 573	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	575 → 716	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	720 → 876	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	882 → 1026	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1031 → 1178	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1179 → 1320	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1322 → 1462	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1465 → 1599	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1603 → 1750	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1755 → 1894	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00040	fn2	1903 → 1942	Fibronectin type II domain	Domain
  PF00878	CIMR	1946 → 2083	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	2085 → 2233	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	2237 → 2290	Cation-independent mannose-6-phosphate receptor repeat	Family

• Sequence:

  MGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKN
  NVLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEFNTTVSCDQQ
  GTNHRVQSSIAFLCGKTLGTPEFVTATECVHYFEWRTTAACKKDIFKANKEVPCYVFDEE
  LRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPGSQLRACPPGTAACLVRGH
  QAFDVGQPRDGLKLVRKDRLVLSYVREEAGKLDFCDGHSPAVTITFVCPSERREGTIPKL
  TAKSNCRYEIEWITEYACHRDYLESKTCSLSGEQQDVSIDLTPLAQSGGSSYISDGKEYL
  FYLNVCGETEIQFCNKKQAAVCQVKKSDTSQVKAAGRYHNQTLRYSDGDLTLIYFGGDEC
  SSGFQRMSVINFECNKTAGNDGKGTPVFTGEVDCTYFFTWDTEYACVKEKEDLLCGATDG
  KKRYDLSALVRHAEPEQNWEAVDGSQTETEKKHFFINICHRVLQEGKARGCPEDAAVCAV
  DKNGSKNLGKFISSPMKEKGNIQLSYSDGDDCGHGKKIKTNITLVCKPGDLESAPVLRTS
  GEGGCFYEFEWHTAAACVLSKTEGENCTVFDSQAGFSFDLSPLTKKNGAYKVETKKYDFY
  INVCGPVSVSPCQPDSGACQVAKSDEKTWNLGLSNAKLSYYDGMIQLNYRGGTPYNNERH
  TPRATLITFLCDRDAGVGFPEYQEEDNSTYNFRWYTSYACPEEPLECVVTDPSTLEQYDL
  SSLAKSEGGLGGNWYAMDNSGEHVTWRKYYINVCRPLNPVPGCNRYASACQMKYEKDQGS
  FTEVVSISNLGMAKTGPVVEDSGSLLLEYVNGSACTTSDGRQTTYTTRIHLVCSRGRLNS
  HPIFSLNWECVVSFLWNTEAACPIQTTTDTDQACSIRDPNSGFVFNLNPLNSSQGYNVSG
  IGKIFMFNVCGTMPVCGTILGKPASGCEAETQTEELKNWKPARPVGIEKSLQLSTEGFIT
  LTYKGPLSAKGTADAFIVRFVCNDDVYSGPLKFLHQDIDSGQGIRNTYFEFETALACVPS
  PVDCQVTDLAGNEYDLTGLSTVRKPWTAVDTSVDGRKRTFYLSVCNPLPYIPGCQGSAVG
  SCLVSEGNSWNLGVVQMSPQAAANGSLSIMYVNGDKCGNQRFSTRITFECAQISGSPAFQ
  LQDGCEYVFIWRTVEACPVVRVEGDNCEVKDPRHGNLYDLKPLGLNDTIVSAGEYTYYFR
  VCGKLSSDVCPTSDKSKVVSSCQEKREPQGFHKVAGLLTQKLTYENGLLKMNFTGGDTCH
  KVYQRSTAIFFYCDRGTQRPVFLKETSDCSYLFEWRTQYACPPFDLTECSFKDGAGNSFD
  LSSLSRYSDNWEAITGTGDPEHYLINVCKSLAPQAGTEPCPPEAAACLLGGSKPVNLGRV
  RDGPQWRDGIIVLKYVDGDLCPDGIRKKSTTIRFTCSESQVNSRPMFISAVEDCEYTFAW
  PTATACPMKSNEHDDCQVTNPSTGHLFDLSSLSGRAGFTAAYSEKGLVYMSICGENENCP
  PGVGACFGQTRISVGKANKRLRYVDQVLQLVYKDGSPCPSKSGLSYKSVISFVCRPEARP
  TNRPMLISLDKQTCTLFFSWHTPLACEQATECSVRNGSSIVDLSPLIHRTGGYEAYDESE
  DDASDTNPDFYINICQPLNPMHGVPCPAGAAVCKVPIDGPPIDIGRVAGPPILNPIANEI
  YLNFESSTPCLADKHFNYTSLIAFHCKRGVSMGTPKLLRTSECDFVFEWETPVVCPDEVR
  MDGCTLTDEQLLYSFNLSSLSTSTFKVTRDSRTYSVGVCTFAVGPEQGGCKDGGVCLLSG
  TKGASFGRLQSMKLDYRHQDEAVVLSYVNGDRCPPETDDGVPCVFPFIFNGKSYEECIIE
  SRAKLWCSTTADYDRDHEWGFCRHSNSYRTSSIIFKCDEDEDIGRPQVFSEVRGCDVTFE
  WKTKVVCPPKKLECKFVQKHKTYDLRLLSSLTGSWSLVHNGVSYYINLCQKIYKGPLGCS
  ERASICRRTTTGDVQVLGLVHTQKLGVIGDKVVVTYSKGYPCGGNKTASSVIELTCTKTV
  GRPAFKRFDIDSCTYYFSWDSRAACAVKPQEVQMVNGTITNPINGKSFSLGDIYFKLFRA
  SGDMRTNGDNYLYEIQLSSITSSRNPACSGANICQVKPNDQHFSRKVGTSDKTKYYLQDG
  DLDVVFASSSKCGKDKTKSVSSTIFFHCDPLVEDGIPEFSHETADCQYLFSWYTSAVCPL
  GVGFDSENPGDDGQMHKGLSERSQAVGAVLSLLLVALTCCLLALLLYKKERRETVISKLT
  TCCRRSSNVSYKYSKVNKEEETDENETEWLMEEIQLPPPRQGKEGQENGHITTKSVKALS
  SLHGDDQDSEDEVLTIPEVKVHSGRGAGAESSHPVRNAQSNALQEREDDRVGLVRGEKAR
  KGKSSSAQQKTVSSTKLVSFHDDSDEDLLHI

• Sequence length: 2491

Pathways

KEGG:

Virion - Herpesvirus
Lysosome
Endocytosis

Reactome:

Golgi Associated Vesicle Biogenesis
Neutrophil degranulation
Retrograde transport at the Trans-Golgi-Network
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

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
Hepatocellular carcinoma	Pathogenic; Likely pathogenic	rs121434587, rs121434588, rs1783569729	RCV000015918 RCV000015919 RCV001170050	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure	Likely pathogenic	rs756631085	RCV001270203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beckwith-Wiedemann syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	15750215		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19626700		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10347113, 24194259		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18611974		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	LHGDN	18611974		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	30838516	Associate	★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30838516		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33704916	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	15750215		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	15750215		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	15750215		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	15750215		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	39179703	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30838516		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial Occlusive Disease	BEFREE	11854734		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	11854734	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29463262		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29463262		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	10594701	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	16825435, 26505556		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28882129, 31847523		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24266751		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12149131, 12165733, 12857727, 14520693, 1656243, 17295243, 18497053, 19435860, 20347606, 29940770, 8286193, 8649861, 9413941		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12149131, 19435860, 20347606, 26458823, 36140725, 37684436, 8286193, 9413941	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	29495996		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12149131, 17850746, 9294214	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	9413941	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18322954, 23071652, 33495404, 7639583, 9294214, 9413941	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26718977	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28882129, 31847523		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10734317		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23347038	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16432260		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	23498131	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30642433	Associate	★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis neuronal 5	Neuronal ceroid lipofuscinosis	Pubtator	22431521	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31748500		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31748500		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22878902		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	20565817		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	30249230		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASCAT_DG	29545352		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30720132		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22377707		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10435587, 22486879, 9157973		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22377707	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CTD_human_DG	20620343, 21433279		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	CTD_human_DG	20620343, 21433279		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Morgagni	Morgagni diaphragmatic hernia	CTD_human_DG	20620343, 21433279		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29856483		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	29495996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	29495996		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	30373548		★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	20889566		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	30642433	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21852217		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	31424259	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21852217		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25867398, 25922844	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15531531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16868148, 18602895, 25922844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	9157973		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	17399767	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19626700	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	15750215		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	LHGDN	18174267		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28839458, 28890106		★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	22154081, 27017193, 30803275		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26956052, 27770278	Associate	★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	27638600		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	19762333		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	22154081, 27017193, 30803275		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	12589712		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	12589712, 39619326	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29136764		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29856483		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37684436	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	24968760		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	16627984	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	19762333		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	9797779		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	11283790, 25922844	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	17507477		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29545352		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36299463	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	12543777, 21347719		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10347113, 10411141, 11981765, 12736721, 17149973, 18322954, 24656929, 29933129, 30720132, 7493029, 7639583, 9294214, 9570384		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12603530, 18322954		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	15057872		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30720132, 9294214		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	9294214	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	9294214	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	9294214		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	9294214	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	CTD_human_DG	20620343, 21433279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	10734317		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	12142546, 30642433	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18037232		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	23360674		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	12589712		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12149131, 12165733, 12857727, 14520693, 1656243, 17295243, 18497053, 19435860, 20347606, 29940770, 8286193, 8649861, 9413941, 9516081		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	9516081		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	10791771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10734317		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	12543777, 21347719		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16432260		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21852217, 9361090		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12665524, 16304558, 31181759		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25329677		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28882129, 31847523		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10435587, 10446221, 10734317, 10857553, 11182753, 12149131, 12857727, 16304558, 19646808, 22377707, 22681933, 29940770, 9070652, 9361090, 9516081		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31748500		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22377707		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12165733		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	8649861, 9034167, 9516081		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19414391, 21109473, 34571863	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20483645, 27548915, 30373548		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25867398	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25867398, 34093434	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25867398, 30392876		★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29940770		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	8896422	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	31793167		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	35802752	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	9157973, 9563904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29495996		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10398102, 10435587, 10734317, 10791771, 10905590, 10959092, 11163495, 11182753, 11981765, 12589712, 12665524, 15361835, 16304558, 16779663, 17295243, 18037232, 18322954, 18604514, 18789384, 19435860, 19626700, 19762333, 20416304, 21347719, 22681933, 24637962, 24968760, 25402559, 29318541, 29541206, 30720132, 31391495, 31748500, 31847523, 7493029, 7753549, 8649861, 9034167, 9070652, 9205049, 9349506, 9361090, 9516081, 9563904, 9570384, 9730607, 9797779, 9809981		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	9070652		★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	20889566		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18037232, 25402559		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26458823		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type VII	Osteogenesis imperfecta	Pubtator	23347038	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17684144, 31391495		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	17684144		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	21751203	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	21846690	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	24014609		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	16432260, 22849543		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16432260, 22849543, 36722270	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21852217, 9361090		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20416304	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	24152121, 27509067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	24152121	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22904171	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	24014609		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	15750215		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12665524, 16304558, 31181759		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12586773, 16304558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31337649	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Resistance to Insulin-Like Growth Factor I	IGF-I RESISTANCE	BEFREE	26369544		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	16799619		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	30541844	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	37562257	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10734317, 12543777, 23347038		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18604514		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	12589712	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	10734317		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19626700, 25329677	Associate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	20347606		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	9888478		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	10861262	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	10861262, 9438104		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	1314098		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31748500	Stimulate	★☆☆☆☆ Found in Text Mining only