PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2)

Gene

• Entrez ID: 5296
• Gene name: Phosphoinositide-3-kinase regulatory subunit 2
• Gene symbol: PIK3R2
• Synonyms (NCBI Gene): MPPH, MPPH1, P85B, p85, p85-BETA, p85beta
• Chromosome: 19
• Chromosome location: 19p13.11
• Summary: Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subun

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs372272045	G>C,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587776934	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587777624	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041591	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886041602	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519801	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1131691683	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1212577459	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1418268495	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1555815238	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568636630	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568637223	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003894	hsa-miR-126-3p	Western blot	18663744
MIRT003894	hsa-miR-126-3p	qRT-PCR	18663744
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay	18663744
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay	18663744
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay	18663744
MIRT003894	hsa-miR-126-3p	Review	20029422
MIRT004644	hsa-miR-126-5p	Review	20029422
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, Western blot	18987025
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, Western blot	21249429
MIRT007136	hsa-miR-30c-5p	qRT-PCR	23418453
MIRT003894	hsa-miR-126-3p	Reporter assay;Western blot	21249429
MIRT021712	hsa-miR-133a-3p	Reporter assay	21249429
MIRT048832	hsa-miR-93-5p	CLASH	23622248
MIRT038442	hsa-miR-296-3p	CLASH	23622248
MIRT003894	hsa-miR-126-3p	qRT-PCR, Western blot	24969300
MIRT731593	hsa-miR-30d-5p	LacZ reporter assay	27165190
MIRT731593	hsa-miR-30d-5p	LacZ reporter assay	27165190
MIRT003894	hsa-miR-126-3p	Immunohistochemistry, In situ hybridization, qRT-PCR, Western blot	26381870
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	27191494
MIRT732302	hsa-miR-552-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	26485640
MIRT732302	hsa-miR-552-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	26485640
MIRT003894	hsa-miR-126-3p	Immunofluorescence, Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33350092
MIRT003894	hsa-miR-126-3p	qRT-PCR	32490599
MIRT004644	hsa-miR-126-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR	33098220
MIRT003894	hsa-miR-126-3p	qRT-PCR	32425976
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR, In situ hybridization, Flow cytometry	34107168
MIRT003894	hsa-miR-126-3p	Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR	31502903
MIRT1234639	hsa-miR-1178	CLIP-seq
MIRT1234640	hsa-miR-1197	CLIP-seq
MIRT1234641	hsa-miR-1207-5p	CLIP-seq
MIRT1234642	hsa-miR-1252	CLIP-seq
MIRT1234643	hsa-miR-1258	CLIP-seq
MIRT1234644	hsa-miR-126	CLIP-seq
MIRT1234645	hsa-miR-1275	CLIP-seq
MIRT1234646	hsa-miR-1277	CLIP-seq
MIRT1234647	hsa-miR-1289	CLIP-seq
MIRT1234648	hsa-miR-1321	CLIP-seq
MIRT1234649	hsa-miR-1343	CLIP-seq
MIRT1234650	hsa-miR-15a	CLIP-seq
MIRT1234651	hsa-miR-15b	CLIP-seq
MIRT1234652	hsa-miR-16	CLIP-seq
MIRT1234653	hsa-miR-185	CLIP-seq
MIRT1234654	hsa-miR-195	CLIP-seq
MIRT1234655	hsa-miR-1976	CLIP-seq
MIRT1234656	hsa-miR-2467-3p	CLIP-seq
MIRT1234657	hsa-miR-2682	CLIP-seq
MIRT1234658	hsa-miR-3074-3p	CLIP-seq
MIRT1234659	hsa-miR-30a	CLIP-seq
MIRT1234660	hsa-miR-30b	CLIP-seq
MIRT1234661	hsa-miR-30c	CLIP-seq
MIRT1234662	hsa-miR-30d	CLIP-seq
MIRT1234663	hsa-miR-30e	CLIP-seq
MIRT1234664	hsa-miR-3117-3p	CLIP-seq
MIRT1234665	hsa-miR-3125	CLIP-seq
MIRT1234666	hsa-miR-3140-5p	CLIP-seq
MIRT1234667	hsa-miR-3144-5p	CLIP-seq
MIRT1234668	hsa-miR-3150b-3p	CLIP-seq
MIRT1234669	hsa-miR-3151	CLIP-seq
MIRT1234670	hsa-miR-3154	CLIP-seq
MIRT1234671	hsa-miR-3179	CLIP-seq
MIRT1234672	hsa-miR-3184	CLIP-seq
MIRT1234673	hsa-miR-3187-3p	CLIP-seq
MIRT1234674	hsa-miR-3198	CLIP-seq
MIRT1234675	hsa-miR-335	CLIP-seq
MIRT1234676	hsa-miR-342-5p	CLIP-seq
MIRT1234677	hsa-miR-34a	CLIP-seq
MIRT1234678	hsa-miR-34c-5p	CLIP-seq
MIRT1234679	hsa-miR-3607-3p	CLIP-seq
MIRT1234680	hsa-miR-3616-3p	CLIP-seq
MIRT1234681	hsa-miR-3649	CLIP-seq
MIRT1234682	hsa-miR-365	CLIP-seq
MIRT1234683	hsa-miR-3655	CLIP-seq
MIRT1234684	hsa-miR-3663-5p	CLIP-seq
MIRT1234685	hsa-miR-3665	CLIP-seq
MIRT1234686	hsa-miR-3667-3p	CLIP-seq
MIRT1234687	hsa-miR-3675-5p	CLIP-seq
MIRT1234688	hsa-miR-3677-3p	CLIP-seq
MIRT1234689	hsa-miR-3678-5p	CLIP-seq
MIRT1234690	hsa-miR-3686	CLIP-seq
MIRT1234691	hsa-miR-369-5p	CLIP-seq
MIRT1234692	hsa-miR-3916	CLIP-seq
MIRT1234693	hsa-miR-3917	CLIP-seq
MIRT1234694	hsa-miR-3919	CLIP-seq
MIRT1234695	hsa-miR-3925-5p	CLIP-seq
MIRT1234696	hsa-miR-3926	CLIP-seq
MIRT1234697	hsa-miR-3935	CLIP-seq
MIRT1234698	hsa-miR-3944-5p	CLIP-seq
MIRT1234699	hsa-miR-3960	CLIP-seq
MIRT1234700	hsa-miR-423-5p	CLIP-seq
MIRT1234701	hsa-miR-424	CLIP-seq
MIRT1234702	hsa-miR-4252	CLIP-seq
MIRT1234703	hsa-miR-4257	CLIP-seq
MIRT1234704	hsa-miR-4258	CLIP-seq
MIRT1234705	hsa-miR-4260	CLIP-seq
MIRT1234706	hsa-miR-4266	CLIP-seq
MIRT1234707	hsa-miR-4267	CLIP-seq
MIRT1234708	hsa-miR-4271	CLIP-seq
MIRT1234709	hsa-miR-4294	CLIP-seq
MIRT1234710	hsa-miR-4302	CLIP-seq
MIRT1234711	hsa-miR-4306	CLIP-seq
MIRT1234712	hsa-miR-4307	CLIP-seq
MIRT1234713	hsa-miR-4309	CLIP-seq
MIRT1234714	hsa-miR-4311	CLIP-seq
MIRT1234715	hsa-miR-4419a	CLIP-seq
MIRT1234716	hsa-miR-4428	CLIP-seq
MIRT1234717	hsa-miR-4434	CLIP-seq
MIRT1234718	hsa-miR-4435	CLIP-seq
MIRT1234719	hsa-miR-4436b-3p	CLIP-seq
MIRT1234720	hsa-miR-4443	CLIP-seq
MIRT1234721	hsa-miR-4447	CLIP-seq
MIRT1234722	hsa-miR-4457	CLIP-seq
MIRT1234723	hsa-miR-4472	CLIP-seq
MIRT1234724	hsa-miR-4497	CLIP-seq
MIRT1234725	hsa-miR-449a	CLIP-seq
MIRT1234726	hsa-miR-449b	CLIP-seq
MIRT1234727	hsa-miR-449c	CLIP-seq
MIRT1234728	hsa-miR-4510	CLIP-seq
MIRT1234729	hsa-miR-4514	CLIP-seq
MIRT1234730	hsa-miR-4516	CLIP-seq
MIRT1234731	hsa-miR-4525	CLIP-seq
MIRT1234732	hsa-miR-4527	CLIP-seq
MIRT1234733	hsa-miR-4531	CLIP-seq
MIRT1234734	hsa-miR-4532	CLIP-seq
MIRT1234735	hsa-miR-4533	CLIP-seq
MIRT1234736	hsa-miR-4640-5p	CLIP-seq
MIRT1234737	hsa-miR-4644	CLIP-seq
MIRT1234738	hsa-miR-4646-3p	CLIP-seq
MIRT1234739	hsa-miR-4651	CLIP-seq
MIRT1234740	hsa-miR-4653-3p	CLIP-seq
MIRT1234741	hsa-miR-4664-5p	CLIP-seq
MIRT1234742	hsa-miR-4665-5p	CLIP-seq
MIRT1234743	hsa-miR-4670-3p	CLIP-seq
MIRT1234744	hsa-miR-4683	CLIP-seq
MIRT1234745	hsa-miR-4685-5p	CLIP-seq
MIRT1234746	hsa-miR-4692	CLIP-seq
MIRT1234747	hsa-miR-4695-5p	CLIP-seq
MIRT1234748	hsa-miR-4701-5p	CLIP-seq
MIRT1234749	hsa-miR-4711-5p	CLIP-seq
MIRT1234750	hsa-miR-4723-5p	CLIP-seq
MIRT1234751	hsa-miR-4725-3p	CLIP-seq
MIRT1234752	hsa-miR-4726-5p	CLIP-seq
MIRT1234753	hsa-miR-4728-5p	CLIP-seq
MIRT1234754	hsa-miR-4736	CLIP-seq
MIRT1234755	hsa-miR-4739	CLIP-seq
MIRT1234756	hsa-miR-4746-3p	CLIP-seq
MIRT1234757	hsa-miR-4747-5p	CLIP-seq
MIRT1234758	hsa-miR-4756-5p	CLIP-seq
MIRT1234759	hsa-miR-4763-3p	CLIP-seq
MIRT1234760	hsa-miR-4772-3p	CLIP-seq
MIRT1234761	hsa-miR-4779	CLIP-seq
MIRT1234762	hsa-miR-4784	CLIP-seq
MIRT1234763	hsa-miR-4802-3p	CLIP-seq
MIRT1234764	hsa-miR-486-3p	CLIP-seq
MIRT1234765	hsa-miR-487a	CLIP-seq
MIRT1234766	hsa-miR-491-5p	CLIP-seq
MIRT1234767	hsa-miR-492	CLIP-seq
MIRT1234768	hsa-miR-497	CLIP-seq
MIRT1234769	hsa-miR-513b	CLIP-seq
MIRT1234770	hsa-miR-516b	CLIP-seq
MIRT1234771	hsa-miR-541	CLIP-seq
MIRT1234772	hsa-miR-548aa	CLIP-seq
MIRT1234773	hsa-miR-548s	CLIP-seq
MIRT1234774	hsa-miR-583	CLIP-seq
MIRT1234775	hsa-miR-588	CLIP-seq
MIRT1234776	hsa-miR-589	CLIP-seq
MIRT1234777	hsa-miR-608	CLIP-seq
MIRT1234778	hsa-miR-625	CLIP-seq
MIRT1234779	hsa-miR-654-5p	CLIP-seq
MIRT1234780	hsa-miR-759	CLIP-seq
MIRT1234781	hsa-miR-764	CLIP-seq
MIRT1234782	hsa-miR-767-3p	CLIP-seq
MIRT1234783	hsa-miR-885-3p	CLIP-seq
MIRT1234784	hsa-miR-891b	CLIP-seq
MIRT1234785	hsa-miR-922	CLIP-seq
MIRT1234639	hsa-miR-1178	CLIP-seq
MIRT1234640	hsa-miR-1197	CLIP-seq
MIRT1234641	hsa-miR-1207-5p	CLIP-seq
MIRT2069060	hsa-miR-122	CLIP-seq
MIRT2069061	hsa-miR-1254	CLIP-seq
MIRT1234644	hsa-miR-126	CLIP-seq
MIRT1234646	hsa-miR-1277	CLIP-seq
MIRT1234647	hsa-miR-1289	CLIP-seq
MIRT2069062	hsa-miR-1323	CLIP-seq
MIRT2069063	hsa-miR-135a	CLIP-seq
MIRT2069064	hsa-miR-135b	CLIP-seq
MIRT1234653	hsa-miR-185	CLIP-seq
MIRT2069065	hsa-miR-1908	CLIP-seq
MIRT2069066	hsa-miR-1915	CLIP-seq
MIRT1234656	hsa-miR-2467-3p	CLIP-seq
MIRT1234657	hsa-miR-2682	CLIP-seq
MIRT2069067	hsa-miR-302a	CLIP-seq
MIRT2069068	hsa-miR-302b	CLIP-seq
MIRT2069069	hsa-miR-302c	CLIP-seq
MIRT2069070	hsa-miR-302d	CLIP-seq
MIRT2069071	hsa-miR-302e	CLIP-seq
MIRT1234658	hsa-miR-3074-3p	CLIP-seq
MIRT1234659	hsa-miR-30a	CLIP-seq
MIRT1234660	hsa-miR-30b	CLIP-seq
MIRT1234661	hsa-miR-30c	CLIP-seq
MIRT1234662	hsa-miR-30d	CLIP-seq
MIRT1234663	hsa-miR-30e	CLIP-seq
MIRT2069072	hsa-miR-3116	CLIP-seq
MIRT1234665	hsa-miR-3125	CLIP-seq
MIRT1234667	hsa-miR-3144-5p	CLIP-seq
MIRT2069073	hsa-miR-3148	CLIP-seq
MIRT1234668	hsa-miR-3150b-3p	CLIP-seq
MIRT1234669	hsa-miR-3151	CLIP-seq
MIRT1234670	hsa-miR-3154	CLIP-seq
MIRT2069074	hsa-miR-3176	CLIP-seq
MIRT1234671	hsa-miR-3179	CLIP-seq
MIRT2069075	hsa-miR-3180	CLIP-seq
MIRT2069076	hsa-miR-3180-3p	CLIP-seq
MIRT1234673	hsa-miR-3187-3p	CLIP-seq
MIRT2069077	hsa-miR-3196	CLIP-seq
MIRT1234674	hsa-miR-3198	CLIP-seq
MIRT1234675	hsa-miR-335	CLIP-seq
MIRT1234677	hsa-miR-34a	CLIP-seq
MIRT1234678	hsa-miR-34c-5p	CLIP-seq
MIRT1234679	hsa-miR-3607-3p	CLIP-seq
MIRT1234680	hsa-miR-3616-3p	CLIP-seq
MIRT2069078	hsa-miR-3621	CLIP-seq
MIRT1234681	hsa-miR-3649	CLIP-seq
MIRT1234682	hsa-miR-365	CLIP-seq
MIRT1234683	hsa-miR-3655	CLIP-seq
MIRT1234685	hsa-miR-3665	CLIP-seq
MIRT1234688	hsa-miR-3677-3p	CLIP-seq
MIRT1234689	hsa-miR-3678-5p	CLIP-seq
MIRT1234690	hsa-miR-3686	CLIP-seq
MIRT2069079	hsa-miR-371b-5p	CLIP-seq
MIRT2069080	hsa-miR-372	CLIP-seq
MIRT2069081	hsa-miR-373	CLIP-seq
MIRT2069082	hsa-miR-384	CLIP-seq
MIRT1234692	hsa-miR-3916	CLIP-seq
MIRT2069083	hsa-miR-3922-3p	CLIP-seq
MIRT1234695	hsa-miR-3925-5p	CLIP-seq
MIRT1234696	hsa-miR-3926	CLIP-seq
MIRT1234697	hsa-miR-3935	CLIP-seq
MIRT2069084	hsa-miR-3937	CLIP-seq
MIRT1234698	hsa-miR-3944-5p	CLIP-seq
MIRT1234704	hsa-miR-4258	CLIP-seq
MIRT1234705	hsa-miR-4260	CLIP-seq
MIRT2069085	hsa-miR-4265	CLIP-seq
MIRT1234706	hsa-miR-4266	CLIP-seq
MIRT1234707	hsa-miR-4267	CLIP-seq
MIRT1234708	hsa-miR-4271	CLIP-seq
MIRT2069086	hsa-miR-4281	CLIP-seq
MIRT1234709	hsa-miR-4294	CLIP-seq
MIRT2069087	hsa-miR-4296	CLIP-seq
MIRT1234710	hsa-miR-4302	CLIP-seq
MIRT1234711	hsa-miR-4306	CLIP-seq
MIRT1234712	hsa-miR-4307	CLIP-seq
MIRT1234713	hsa-miR-4309	CLIP-seq
MIRT2069088	hsa-miR-4322	CLIP-seq
MIRT1234718	hsa-miR-4435	CLIP-seq
MIRT1234719	hsa-miR-4436b-3p	CLIP-seq
MIRT2069089	hsa-miR-4438	CLIP-seq
MIRT1234720	hsa-miR-4443	CLIP-seq
MIRT1234721	hsa-miR-4447	CLIP-seq
MIRT1234723	hsa-miR-4472	CLIP-seq
MIRT2069090	hsa-miR-4482	CLIP-seq
MIRT1234725	hsa-miR-449a	CLIP-seq
MIRT1234726	hsa-miR-449b	CLIP-seq
MIRT1234727	hsa-miR-449c	CLIP-seq
MIRT2069091	hsa-miR-4505	CLIP-seq
MIRT2069092	hsa-miR-450b-5p	CLIP-seq
MIRT1234729	hsa-miR-4514	CLIP-seq
MIRT1234737	hsa-miR-4644	CLIP-seq
MIRT1234738	hsa-miR-4646-3p	CLIP-seq
MIRT2069093	hsa-miR-4659a-5p	CLIP-seq
MIRT2069094	hsa-miR-4659b-5p	CLIP-seq
MIRT2069095	hsa-miR-4679	CLIP-seq
MIRT1234745	hsa-miR-4685-5p	CLIP-seq
MIRT2069096	hsa-miR-4690-3p	CLIP-seq
MIRT1234746	hsa-miR-4692	CLIP-seq
MIRT1234747	hsa-miR-4695-5p	CLIP-seq
MIRT1234748	hsa-miR-4701-5p	CLIP-seq
MIRT1234751	hsa-miR-4725-3p	CLIP-seq
MIRT2069097	hsa-miR-4726-3p	CLIP-seq
MIRT2069098	hsa-miR-4731-5p	CLIP-seq
MIRT1234754	hsa-miR-4736	CLIP-seq
MIRT1234756	hsa-miR-4746-3p	CLIP-seq
MIRT2069099	hsa-miR-4755-3p	CLIP-seq
MIRT2069100	hsa-miR-4757-5p	CLIP-seq
MIRT1234759	hsa-miR-4763-3p	CLIP-seq
MIRT2069101	hsa-miR-4776-3p	CLIP-seq
MIRT1234761	hsa-miR-4779	CLIP-seq
MIRT2069102	hsa-miR-4783-3p	CLIP-seq
MIRT1234762	hsa-miR-4784	CLIP-seq
MIRT1234763	hsa-miR-4802-3p	CLIP-seq
MIRT1234764	hsa-miR-486-3p	CLIP-seq
MIRT1234765	hsa-miR-487a	CLIP-seq
MIRT1234766	hsa-miR-491-5p	CLIP-seq
MIRT1234767	hsa-miR-492	CLIP-seq
MIRT2069103	hsa-miR-507	CLIP-seq
MIRT2069104	hsa-miR-5095	CLIP-seq
MIRT2069105	hsa-miR-512-3p	CLIP-seq
MIRT2069106	hsa-miR-520a-3p	CLIP-seq
MIRT2069107	hsa-miR-520b	CLIP-seq
MIRT2069108	hsa-miR-520c-3p	CLIP-seq
MIRT2069109	hsa-miR-520d-3p	CLIP-seq
MIRT2069110	hsa-miR-520e	CLIP-seq
MIRT1234771	hsa-miR-541	CLIP-seq
MIRT1234772	hsa-miR-548aa	CLIP-seq
MIRT2069111	hsa-miR-548c-3p	CLIP-seq
MIRT2069112	hsa-miR-548o	CLIP-seq
MIRT1234773	hsa-miR-548s	CLIP-seq
MIRT2069113	hsa-miR-550a	CLIP-seq
MIRT2069114	hsa-miR-557	CLIP-seq
MIRT1234774	hsa-miR-583	CLIP-seq
MIRT1234775	hsa-miR-588	CLIP-seq
MIRT1234776	hsa-miR-589	CLIP-seq
MIRT1234779	hsa-miR-654-5p	CLIP-seq
MIRT2069115	hsa-miR-661	CLIP-seq
MIRT2069116	hsa-miR-663	CLIP-seq
MIRT1234781	hsa-miR-764	CLIP-seq
MIRT1234782	hsa-miR-767-3p	CLIP-seq
MIRT1234783	hsa-miR-885-3p	CLIP-seq
MIRT2069117	hsa-miR-944	CLIP-seq
MIRT1234639	hsa-miR-1178	CLIP-seq
MIRT1234640	hsa-miR-1197	CLIP-seq
MIRT1234641	hsa-miR-1207-5p	CLIP-seq
MIRT1234645	hsa-miR-1275	CLIP-seq
MIRT1234646	hsa-miR-1277	CLIP-seq
MIRT1234648	hsa-miR-1321	CLIP-seq
MIRT2069063	hsa-miR-135a	CLIP-seq
MIRT2069064	hsa-miR-135b	CLIP-seq
MIRT2296084	hsa-miR-146b-3p	CLIP-seq
MIRT1234650	hsa-miR-15a	CLIP-seq
MIRT1234651	hsa-miR-15b	CLIP-seq
MIRT1234652	hsa-miR-16	CLIP-seq
MIRT1234653	hsa-miR-185	CLIP-seq
MIRT2069066	hsa-miR-1915	CLIP-seq
MIRT1234654	hsa-miR-195	CLIP-seq
MIRT1234656	hsa-miR-2467-3p	CLIP-seq
MIRT1234657	hsa-miR-2682	CLIP-seq
MIRT2296085	hsa-miR-3074-5p	CLIP-seq
MIRT1234659	hsa-miR-30a	CLIP-seq
MIRT1234660	hsa-miR-30b	CLIP-seq
MIRT1234661	hsa-miR-30c	CLIP-seq
MIRT1234662	hsa-miR-30d	CLIP-seq
MIRT1234663	hsa-miR-30e	CLIP-seq
MIRT1234666	hsa-miR-3140-5p	CLIP-seq
MIRT1234667	hsa-miR-3144-5p	CLIP-seq
MIRT1234669	hsa-miR-3151	CLIP-seq
MIRT1234670	hsa-miR-3154	CLIP-seq
MIRT2296086	hsa-miR-3173-5p	CLIP-seq
MIRT1234671	hsa-miR-3179	CLIP-seq
MIRT1234672	hsa-miR-3184	CLIP-seq
MIRT1234673	hsa-miR-3187-3p	CLIP-seq
MIRT1234677	hsa-miR-34a	CLIP-seq
MIRT1234678	hsa-miR-34c-5p	CLIP-seq
MIRT1234679	hsa-miR-3607-3p	CLIP-seq
MIRT1234680	hsa-miR-3616-3p	CLIP-seq
MIRT1234681	hsa-miR-3649	CLIP-seq
MIRT1234682	hsa-miR-365	CLIP-seq
MIRT1234685	hsa-miR-3665	CLIP-seq
MIRT1234686	hsa-miR-3667-3p	CLIP-seq
MIRT1234690	hsa-miR-3686	CLIP-seq
MIRT2069082	hsa-miR-384	CLIP-seq
MIRT1234693	hsa-miR-3917	CLIP-seq
MIRT1234696	hsa-miR-3926	CLIP-seq
MIRT1234697	hsa-miR-3935	CLIP-seq
MIRT1234698	hsa-miR-3944-5p	CLIP-seq
MIRT1234699	hsa-miR-3960	CLIP-seq
MIRT2296087	hsa-miR-411	CLIP-seq
MIRT1234700	hsa-miR-423-5p	CLIP-seq
MIRT1234701	hsa-miR-424	CLIP-seq
MIRT1234702	hsa-miR-4252	CLIP-seq
MIRT1234703	hsa-miR-4257	CLIP-seq
MIRT1234704	hsa-miR-4258	CLIP-seq
MIRT1234705	hsa-miR-4260	CLIP-seq
MIRT1234706	hsa-miR-4266	CLIP-seq
MIRT1234707	hsa-miR-4267	CLIP-seq
MIRT2296088	hsa-miR-4300	CLIP-seq
MIRT1234710	hsa-miR-4302	CLIP-seq
MIRT1234711	hsa-miR-4306	CLIP-seq
MIRT1234715	hsa-miR-4419a	CLIP-seq
MIRT1234718	hsa-miR-4435	CLIP-seq
MIRT1234719	hsa-miR-4436b-3p	CLIP-seq
MIRT1234721	hsa-miR-4447	CLIP-seq
MIRT1234722	hsa-miR-4457	CLIP-seq
MIRT1234723	hsa-miR-4472	CLIP-seq
MIRT1234724	hsa-miR-4497	CLIP-seq
MIRT1234725	hsa-miR-449a	CLIP-seq
MIRT1234726	hsa-miR-449b	CLIP-seq
MIRT1234727	hsa-miR-449c	CLIP-seq
MIRT1234728	hsa-miR-4510	CLIP-seq
MIRT1234729	hsa-miR-4514	CLIP-seq
MIRT1234731	hsa-miR-4525	CLIP-seq
MIRT1234734	hsa-miR-4532	CLIP-seq
MIRT1234736	hsa-miR-4640-5p	CLIP-seq
MIRT1234737	hsa-miR-4644	CLIP-seq
MIRT1234742	hsa-miR-4665-5p	CLIP-seq
MIRT1234743	hsa-miR-4670-3p	CLIP-seq
MIRT2069095	hsa-miR-4679	CLIP-seq
MIRT2069096	hsa-miR-4690-3p	CLIP-seq
MIRT1234746	hsa-miR-4692	CLIP-seq
MIRT1234747	hsa-miR-4695-5p	CLIP-seq
MIRT1234748	hsa-miR-4701-5p	CLIP-seq
MIRT1234749	hsa-miR-4711-5p	CLIP-seq
MIRT2296089	hsa-miR-4712-5p	CLIP-seq
MIRT2296090	hsa-miR-4722-3p	CLIP-seq
MIRT1234750	hsa-miR-4723-5p	CLIP-seq
MIRT2069097	hsa-miR-4726-3p	CLIP-seq
MIRT1234752	hsa-miR-4726-5p	CLIP-seq
MIRT1234753	hsa-miR-4728-5p	CLIP-seq
MIRT2296091	hsa-miR-4732-3p	CLIP-seq
MIRT1234754	hsa-miR-4736	CLIP-seq
MIRT1234755	hsa-miR-4739	CLIP-seq
MIRT1234756	hsa-miR-4746-3p	CLIP-seq
MIRT1234758	hsa-miR-4756-5p	CLIP-seq
MIRT1234759	hsa-miR-4763-3p	CLIP-seq
MIRT1234761	hsa-miR-4779	CLIP-seq
MIRT1234766	hsa-miR-491-5p	CLIP-seq
MIRT1234767	hsa-miR-492	CLIP-seq
MIRT1234768	hsa-miR-497	CLIP-seq
MIRT1234769	hsa-miR-513b	CLIP-seq
MIRT2296092	hsa-miR-539	CLIP-seq
MIRT1234771	hsa-miR-541	CLIP-seq
MIRT1234773	hsa-miR-548s	CLIP-seq
MIRT1234774	hsa-miR-583	CLIP-seq
MIRT1234775	hsa-miR-588	CLIP-seq
MIRT1234778	hsa-miR-625	CLIP-seq
MIRT1234779	hsa-miR-654-5p	CLIP-seq
MIRT1234780	hsa-miR-759	CLIP-seq
MIRT1234781	hsa-miR-764	CLIP-seq
MIRT1234782	hsa-miR-767-3p	CLIP-seq
MIRT2296093	hsa-miR-770-5p	CLIP-seq
MIRT2296094	hsa-miR-874	CLIP-seq
MIRT1234784	hsa-miR-891b	CLIP-seq
MIRT2296095	hsa-miR-920	CLIP-seq
MIRT1234785	hsa-miR-922	CLIP-seq
MIRT2296096	hsa-miR-939	CLIP-seq
MIRT1234639	hsa-miR-1178	CLIP-seq
MIRT1234640	hsa-miR-1197	CLIP-seq
MIRT1234641	hsa-miR-1207-5p	CLIP-seq
MIRT2069060	hsa-miR-122	CLIP-seq
MIRT1234646	hsa-miR-1277	CLIP-seq
MIRT1234653	hsa-miR-185	CLIP-seq
MIRT2069066	hsa-miR-1915	CLIP-seq
MIRT1234659	hsa-miR-30a	CLIP-seq
MIRT1234660	hsa-miR-30b	CLIP-seq
MIRT1234661	hsa-miR-30c	CLIP-seq
MIRT1234662	hsa-miR-30d	CLIP-seq
MIRT1234663	hsa-miR-30e	CLIP-seq
MIRT1234679	hsa-miR-3607-3p	CLIP-seq
MIRT1234680	hsa-miR-3616-3p	CLIP-seq
MIRT1234682	hsa-miR-365	CLIP-seq
MIRT1234685	hsa-miR-3665	CLIP-seq
MIRT1234690	hsa-miR-3686	CLIP-seq
MIRT1234697	hsa-miR-3935	CLIP-seq
MIRT1234698	hsa-miR-3944-5p	CLIP-seq
MIRT1234711	hsa-miR-4306	CLIP-seq
MIRT2069090	hsa-miR-4482	CLIP-seq
MIRT1234737	hsa-miR-4644	CLIP-seq
MIRT2069096	hsa-miR-4690-3p	CLIP-seq
MIRT1234754	hsa-miR-4736	CLIP-seq
MIRT1234759	hsa-miR-4763-3p	CLIP-seq
MIRT1234760	hsa-miR-4772-3p	CLIP-seq
MIRT1234780	hsa-miR-759	CLIP-seq
MIRT1234781	hsa-miR-764	CLIP-seq
MIRT1234782	hsa-miR-767-3p	CLIP-seq
MIRT1234785	hsa-miR-922	CLIP-seq
MIRT1234649	hsa-miR-1343	CLIP-seq
MIRT1234655	hsa-miR-1976	CLIP-seq
MIRT1234675	hsa-miR-335	CLIP-seq
MIRT1234649	hsa-miR-1343	CLIP-seq
MIRT1234655	hsa-miR-1976	CLIP-seq
MIRT1234675	hsa-miR-335	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0001678	Process	Intracellular glucose homeostasis	ISS
GO:0001784	Function	Phosphotyrosine residue binding	IEA
GO:0001784	Function	Phosphotyrosine residue binding	IPI	20624904
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	1330535, 7537096, 7541045, 16273093, 16963558, 17500595, 19380743, 20936779, 21516116, 21706016, 22402981, 22810585, 23604317, 23853584, 24189400, 24658140, 24728074, 25253337, 25416956, 25814554, 26496610, 28169297, 28514442, 29892012, 31515488, 31980649, 32707033, 32814053, 339617
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005925	Component	Focal adhesion	IEA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IBA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IEA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IPI	22402981
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	NAS	20379207
GO:0006955	Process	Immune response	NAS	27616589
GO:0007165	Process	Signal transduction	IEA
GO:0008286	Process	Insulin receptor signaling pathway	IBA
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0010506	Process	Regulation of autophagy	IMP	23604317
GO:0015031	Process	Protein transport	IEA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	23604317
GO:0030183	Process	B cell differentiation	NAS	20200404
GO:0030217	Process	T cell differentiation	NAS	17371229
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IPI	10627473
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032869	Process	Cellular response to insulin stimulus	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0036312	Function	Phosphatidylinositol 3-kinase regulatory subunit binding	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	ISS
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	18694566
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	23604317
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046935	Function	1-phosphatidylinositol-3-kinase regulator activity	IBA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051492	Process	Regulation of stress fiber assembly	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IEA

Other IDs

• MIM: 603157
• HGNC: 8980
• e!Ensembl: ENSG00000105647

Protein

• UniProt ID: O00459
• Protein name: Phosphatidylinositol 3-kinase regulatory subunit beta (PI3-kinase regulatory subunit beta) (PI3K regulatory subunit beta) (PtdIns-3-kinase regulatory subunit beta) (Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta) (PI3-kinase subunit p85-beta
• Protein function: Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain
• PDB: 2KT1, 2XS6, 3MTT, 3O5Z, 6OX7, 6U28, 7RCH, 7RNU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00620	RhoGAP	125 → 263	RhoGAP domain	Domain
  PF00017	SH2	330 → 405	SH2 domain	Domain
  PF16454	PI3K_P85_iSH2	428 → 596	Phosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain	Domain
  PF00017	SH2	622 → 696	SH2 domain	Domain

• Sequence:

  MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGL
  NERTRQRGDFPGTYVEFLGPVALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSP
  PDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLSDVDQWDTAALADGIKSFLLA
  LPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALG
  PAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPP
  ALPPKPPKAKPASTVLANGGSPPSLQDAEWYWGDISREEVNEKLRDTPDGTFLVRDASSK
  IQGEYTLTLRKGGNNKLIKVFHRDGHYGFSEPLTFCSVVDLINHYRHESLAQYNAKLDTR
  LLYPVSKYQQDQIVKEDSVEAVGAQLKVYHQQYQDKSREYDQLYEEYTRTSQELQMKRTA
  IEAFNETIKIFEEQGQTQEKCSKEYLERFRREGNEKEMQRILLNSERLKSRIAEIHESRT
  KLEQQLRAQASDNREIDKRMNSLKPDLMQLRKIRDQYLVWLTQKGARQKKINEWLGIKNE
  TEDQYALMEDEDDLPHHEERTWYVGKINRTQAEEMLSGKRDGTFLIRESSQRGCYACSVV
  VDGDTKHCVIYRTATGFGFAEPYNLYGSLKELVLHYQHASLVQHNDALTVTLAHPVRAPG
  PGPPPAAR

• Sequence length: 728

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
Intellectual disability	Pathogenic	rs587776934	RCV001526656	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephaly-capillary malformation-polymicrogyria syndrome	Pathogenic	rs587776934	RCV000416575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Pathogenic; Likely pathogenic	rs587777624, rs886041591, rs1057519801, rs587776934, rs1568636630, rs2043757489, rs2043767578	RCV000133505 RCV003236667 RCV002250624 RCV000033029 RCV000767347 RCV001254099 RCV001289463	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple myeloma	Likely pathogenic	rs1418268495, rs1212577459	RCV000984100 RCV000984112	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Pathogenic	rs587776934	RCV001836718	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIK3R2-related disorder	Likely pathogenic; Pathogenic	rs372272045, rs886041591, rs587776934	RCV003407833 RCV005250045 RCV003914893	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs372272045, rs886041591, rs587776934	RCV001849843 RCV001849360 RCV001849288	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Overgrowth syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Overgrowth syndrome and/or cerebral malformations	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	1310887		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	26860062	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22044025	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	26354756	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27729613, 37904709	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
BAND HETEROTOPIA	Band Heterotopia	BEFREE	24497998		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26520804	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16579640, 21249429, 23222510, 28027535, 31417306		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25098276	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	30655735		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36857183	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38059827	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of endometrium	Endometrial carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	1310887		★☆☆☆☆ Found in Text Mining only
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	28566443	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22623730, 26517243		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26864651, 7541019		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	18663744	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31217502		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36499586, 40082818	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29288416		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	24507683	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38241313	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28012244, 28934129, 33902539	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25754093		★☆☆☆☆ Found in Text Mining only
endometrial adenoacanthoma	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	CLINVAR_DG	21984976		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21984976, 22586352		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21984976, 31880826	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32155459, 33818783	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	19336760		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26191164	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	26860062		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	26860062	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	14655756, 25502460, 35637600, 40504311	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18328427		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18328427		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29953879		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29496059		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	33785040	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11986952		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	40603987	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycinemia Nonketotic	Hyperglycemia	Pubtator	28566443	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	31481652		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17600131	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	30816547		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38203769	Stimulate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	37399741	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	24469048		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	27191494		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28299881		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	31666070		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	31666070	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25240815		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30008631, 34107168, 35910766	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	11986952		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	24939587, 26860062		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	26860062	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	9538131		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29496059		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21249429, 23222510, 28027535, 31417306		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21984976, 22586352		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	29288416		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	1310887		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26677064, 28012929, 28614092, 31428587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16131837, 21984976, 23270540, 27827005, 28630349, 28743532, 29246942, 29616047, 30961830		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26864651		★☆☆☆☆ Found in Text Mining only
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	ORPHANET_DG	22729224, 26520804		★☆☆☆☆ Found in Text Mining only
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	CTD_human_DG	22729224		★☆☆☆☆ Found in Text Mining only
Megalencephaly cutis marmorata telangiectatica congenita	Megalencephaly Cutis Marmorata Telangiectatica Congenita	CLINVAR_DG	22729224, 24497998, 26520804, 28086757		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	CLINVAR_DG	16357568, 21984976, 22729224, 26520804, 26860062, 28502725		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	UNIPROT_DG	22729224, 23745724, 26520804, 26860062		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	GENOMICS_ENGLAND_DG	22729224, 23745724, 26520804, 28425981		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	33082316, 37401304	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	28223140		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24555840		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	9857977		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	21984976, 22729224, 22989095, 23449172, 23592320, 23606607, 23619167, 23745724, 24497998, 26520804, 26860062, 28086757		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19286672		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	Pubtator	19286672	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple sclerosis	Pubtator	34284104	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29409973, 30662656		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16917505, 21249429, 26517243, 27130196, 27827005, 29588411, 9538131		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30987727		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24550137, 27236384		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33902539, 37399741	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26679893		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32385243, 33432021	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian Syndrome	BEFREE	26520804, 26860062		★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian syndrome	Pubtator	26520804, 26860062, 33818783	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	11440917		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26373822	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	19336760		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	26520804		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	28086757	Associate	★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	26520804, 26860062		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	26520804, 26860062, 33818783, 37486637	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26677064, 28012929, 28614092, 31428587		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26677064	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	27075409		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38178680	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	29288416		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29288416		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26723864, 27729613, 30912120		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	27191494	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26191164		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	27835880		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	30816547		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	28086757	Associate	★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular ring	Vascular ring	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only