NT5C2 (5'-nucleotidase, cytosolic II)

Gene

• Entrez ID: 22978
• Gene name: 5'-nucleotidase, cytosolic II
• Gene symbol: NT5C2
• Synonyms (NCBI Gene): GMP, NT5B, PNT5, SPG45, SPG65, cN-II
• Chromosome: 10
• Chromosome location: 10q24.32-q24.33
• Summary: This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5`-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11598702	T>C,G	Drug-response	Intron variant, genic upstream transcript variant, upstream transcript variant
rs587777173	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs587777174	T>A	Pathogenic	Coding sequence variant, intron variant, stop gained, 5 prime UTR variant
rs763305896	GT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs886037656	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886037657	C>A	Pathogenic	Intron variant, splice acceptor variant
rs886037658	C>T	Pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1430860231	C>G	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020065	hsa-miR-375	Microarray	20215506
MIRT025290	hsa-miR-34a-5p	Proteomics	21566225
MIRT025290	hsa-miR-34a-5p	Proteomics	21566225
MIRT025290	hsa-miR-34a-5p	Proteomics	21566225
MIRT031022	hsa-miR-21-5p	Microarray	18591254
MIRT041471	hsa-miR-193b-3p	CLASH	23622248
MIRT706309	hsa-miR-125a-3p	HITS-CLIP	22927820
MIRT706308	hsa-miR-764	HITS-CLIP	22927820
MIRT706307	hsa-miR-3934-5p	HITS-CLIP	22927820
MIRT706306	hsa-miR-4485-5p	HITS-CLIP	22927820
MIRT706305	hsa-miR-4421	HITS-CLIP	22927820
MIRT706304	hsa-miR-5699-3p	HITS-CLIP	22927820
MIRT706303	hsa-miR-3663-5p	HITS-CLIP	22927820
MIRT706302	hsa-miR-4454	HITS-CLIP	22927820
MIRT693878	hsa-miR-214-5p	HITS-CLIP	22927820
MIRT706301	hsa-miR-6131	HITS-CLIP	22927820
MIRT706300	hsa-miR-6843-3p	HITS-CLIP	22927820
MIRT706299	hsa-miR-6848-3p	HITS-CLIP	22927820
MIRT693882	hsa-miR-6729-3p	HITS-CLIP	23313552
MIRT693881	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT693880	hsa-miR-1914-5p	HITS-CLIP	23313552
MIRT693879	hsa-miR-6889-3p	HITS-CLIP	23313552
MIRT693878	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT693877	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT517062	hsa-miR-1271-3p	HITS-CLIP	23313552
MIRT517061	hsa-miR-550a-3-5p	HITS-CLIP	23313552
MIRT517060	hsa-miR-550a-5p	HITS-CLIP	23313552
MIRT693876	hsa-miR-6894-3p	HITS-CLIP	23313552
MIRT693875	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT693874	hsa-miR-550b-2-5p	HITS-CLIP	23313552
MIRT646878	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT646877	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT646876	hsa-miR-4324	HITS-CLIP	23824327
MIRT646875	hsa-miR-544b	HITS-CLIP	23824327
MIRT646874	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646873	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646872	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646870	hsa-miR-1976	HITS-CLIP	23824327
MIRT646869	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT646868	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT677062	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677061	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT646867	hsa-miR-1200	HITS-CLIP	23824327
MIRT646866	hsa-miR-4279	HITS-CLIP	23824327
MIRT646865	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT673359	hsa-miR-498	HITS-CLIP	23824327
MIRT646878	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT646877	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT646876	hsa-miR-4324	HITS-CLIP	23824327
MIRT646875	hsa-miR-544b	HITS-CLIP	23824327
MIRT646874	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646873	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646872	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646870	hsa-miR-1976	HITS-CLIP	23824327
MIRT517068	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT646869	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT646868	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT646867	hsa-miR-1200	HITS-CLIP	23824327
MIRT646866	hsa-miR-4279	HITS-CLIP	23824327
MIRT646865	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT517057	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT673359	hsa-miR-498	HITS-CLIP	23824327
MIRT646878	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT646877	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT646876	hsa-miR-4324	HITS-CLIP	23824327
MIRT646875	hsa-miR-544b	HITS-CLIP	23824327
MIRT646874	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646873	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646872	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646870	hsa-miR-1976	HITS-CLIP	23824327
MIRT646869	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT646868	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT646867	hsa-miR-1200	HITS-CLIP	23824327
MIRT646866	hsa-miR-4279	HITS-CLIP	23824327
MIRT646865	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT517073	hsa-miR-4438	PAR-CLIP	23446348
MIRT517072	hsa-miR-6746-3p	PAR-CLIP	23446348
MIRT517071	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT517070	hsa-miR-3176	PAR-CLIP	23446348
MIRT517069	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT517068	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT517067	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT517065	hsa-miR-4537	PAR-CLIP	23446348
MIRT517066	hsa-miR-1254	PAR-CLIP	23446348
MIRT517064	hsa-miR-3116	PAR-CLIP	23446348
MIRT517063	hsa-miR-661	PAR-CLIP	23446348
MIRT517062	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT517061	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT517060	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT517059	hsa-miR-5095	PAR-CLIP	23446348
MIRT517058	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT517057	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT706309	hsa-miR-125a-3p	HITS-CLIP	22927820
MIRT706308	hsa-miR-764	HITS-CLIP	22927820
MIRT706307	hsa-miR-3934-5p	HITS-CLIP	22927820
MIRT706306	hsa-miR-4485-5p	HITS-CLIP	22927820
MIRT706305	hsa-miR-4421	HITS-CLIP	22927820
MIRT706304	hsa-miR-5699-3p	HITS-CLIP	22927820
MIRT706303	hsa-miR-3663-5p	HITS-CLIP	22927820
MIRT706302	hsa-miR-4454	HITS-CLIP	22927820
MIRT693878	hsa-miR-214-5p	HITS-CLIP	22927820
MIRT706301	hsa-miR-6131	HITS-CLIP	22927820
MIRT706300	hsa-miR-6843-3p	HITS-CLIP	22927820
MIRT706299	hsa-miR-6848-3p	HITS-CLIP	22927820
MIRT693882	hsa-miR-6729-3p	HITS-CLIP	23313552
MIRT693881	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT693880	hsa-miR-1914-5p	HITS-CLIP	23313552
MIRT693879	hsa-miR-6889-3p	HITS-CLIP	23313552
MIRT693878	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT693877	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT517062	hsa-miR-1271-3p	HITS-CLIP	23313552
MIRT517061	hsa-miR-550a-3-5p	HITS-CLIP	23313552
MIRT517060	hsa-miR-550a-5p	HITS-CLIP	23313552
MIRT693876	hsa-miR-6894-3p	HITS-CLIP	23313552
MIRT693875	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT693874	hsa-miR-550b-2-5p	HITS-CLIP	23313552
MIRT646878	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT646877	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT646876	hsa-miR-4324	HITS-CLIP	23824327
MIRT646875	hsa-miR-544b	HITS-CLIP	23824327
MIRT646874	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646873	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646872	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646870	hsa-miR-1976	HITS-CLIP	23824327
MIRT646869	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT646868	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT677062	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677061	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT646867	hsa-miR-1200	HITS-CLIP	23824327
MIRT646866	hsa-miR-4279	HITS-CLIP	23824327
MIRT646865	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT673359	hsa-miR-498	HITS-CLIP	23824327
MIRT646878	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT646877	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT646876	hsa-miR-4324	HITS-CLIP	23824327
MIRT646875	hsa-miR-544b	HITS-CLIP	23824327
MIRT646874	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646873	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646872	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646870	hsa-miR-1976	HITS-CLIP	23824327
MIRT517068	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT646869	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT646868	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT646867	hsa-miR-1200	HITS-CLIP	23824327
MIRT646866	hsa-miR-4279	HITS-CLIP	23824327
MIRT646865	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT517057	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT673359	hsa-miR-498	HITS-CLIP	23824327
MIRT646878	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT646877	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT646876	hsa-miR-4324	HITS-CLIP	23824327
MIRT646875	hsa-miR-544b	HITS-CLIP	23824327
MIRT646874	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646873	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646872	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646870	hsa-miR-1976	HITS-CLIP	23824327
MIRT646869	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT646868	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT646867	hsa-miR-1200	HITS-CLIP	23824327
MIRT646866	hsa-miR-4279	HITS-CLIP	23824327
MIRT646865	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT517073	hsa-miR-4438	PAR-CLIP	23446348
MIRT517072	hsa-miR-6746-3p	PAR-CLIP	23446348
MIRT517071	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT517070	hsa-miR-3176	PAR-CLIP	23446348
MIRT517069	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT517068	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT517067	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT517065	hsa-miR-4537	PAR-CLIP	23446348
MIRT517066	hsa-miR-1254	PAR-CLIP	23446348
MIRT517064	hsa-miR-3116	PAR-CLIP	23446348
MIRT517063	hsa-miR-661	PAR-CLIP	23446348
MIRT517062	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT517061	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT517060	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT517059	hsa-miR-5095	PAR-CLIP	23446348
MIRT517058	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT517057	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT1195611	hsa-miR-1208	CLIP-seq
MIRT1195612	hsa-miR-1273f	CLIP-seq
MIRT1195613	hsa-miR-128	CLIP-seq
MIRT1195614	hsa-miR-1281	CLIP-seq
MIRT1195615	hsa-miR-1290	CLIP-seq
MIRT1195616	hsa-miR-1343	CLIP-seq
MIRT1195617	hsa-miR-136	CLIP-seq
MIRT1195618	hsa-miR-183	CLIP-seq
MIRT1195619	hsa-miR-19a	CLIP-seq
MIRT1195620	hsa-miR-19b	CLIP-seq
MIRT1195621	hsa-miR-2278	CLIP-seq
MIRT1195622	hsa-miR-31	CLIP-seq
MIRT1195623	hsa-miR-3157-3p	CLIP-seq
MIRT1195624	hsa-miR-3170	CLIP-seq
MIRT1195625	hsa-miR-3182	CLIP-seq
MIRT1195626	hsa-miR-3682-5p	CLIP-seq
MIRT1195627	hsa-miR-374c	CLIP-seq
MIRT1195628	hsa-miR-3934	CLIP-seq
MIRT1195629	hsa-miR-411	CLIP-seq
MIRT1195630	hsa-miR-4299	CLIP-seq
MIRT1195631	hsa-miR-4420	CLIP-seq
MIRT1195632	hsa-miR-4422	CLIP-seq
MIRT1195633	hsa-miR-4457	CLIP-seq
MIRT1195634	hsa-miR-4659a-3p	CLIP-seq
MIRT1195635	hsa-miR-4659b-3p	CLIP-seq
MIRT1195636	hsa-miR-4676-5p	CLIP-seq
MIRT1195637	hsa-miR-4716-5p	CLIP-seq
MIRT1195638	hsa-miR-4732-5p	CLIP-seq
MIRT1195639	hsa-miR-4772-3p	CLIP-seq
MIRT1195640	hsa-miR-4781-3p	CLIP-seq
MIRT1195641	hsa-miR-513b	CLIP-seq
MIRT1195642	hsa-miR-515-5p	CLIP-seq
MIRT1195643	hsa-miR-516a-3p	CLIP-seq
MIRT1195644	hsa-miR-518a-5p	CLIP-seq
MIRT1195645	hsa-miR-527	CLIP-seq
MIRT1195646	hsa-miR-548aa	CLIP-seq
MIRT1195647	hsa-miR-548c-3p	CLIP-seq
MIRT1195648	hsa-miR-575	CLIP-seq
MIRT1195649	hsa-miR-576-5p	CLIP-seq
MIRT1195650	hsa-miR-606	CLIP-seq
MIRT1195651	hsa-miR-655	CLIP-seq
MIRT1195652	hsa-miR-1202	CLIP-seq
MIRT1195653	hsa-miR-1260	CLIP-seq
MIRT1195654	hsa-miR-1260b	CLIP-seq
MIRT1195655	hsa-miR-137	CLIP-seq
MIRT1195656	hsa-miR-188-3p	CLIP-seq
MIRT1195657	hsa-miR-204	CLIP-seq
MIRT1195658	hsa-miR-211	CLIP-seq
MIRT1195659	hsa-miR-25	CLIP-seq
MIRT1195660	hsa-miR-2682	CLIP-seq
MIRT1195661	hsa-miR-3156-3p	CLIP-seq
MIRT1195662	hsa-miR-32	CLIP-seq
MIRT1195663	hsa-miR-33a	CLIP-seq
MIRT1195664	hsa-miR-33b	CLIP-seq
MIRT1195665	hsa-miR-363	CLIP-seq
MIRT1195666	hsa-miR-3653	CLIP-seq
MIRT1195667	hsa-miR-367	CLIP-seq
MIRT1195668	hsa-miR-3714	CLIP-seq
MIRT1195669	hsa-miR-3921	CLIP-seq
MIRT1195670	hsa-miR-3972	CLIP-seq
MIRT1195671	hsa-miR-4251	CLIP-seq
MIRT1195672	hsa-miR-4277	CLIP-seq
MIRT1195673	hsa-miR-4301	CLIP-seq
MIRT1195674	hsa-miR-4329	CLIP-seq
MIRT1195631	hsa-miR-4420	CLIP-seq
MIRT1195675	hsa-miR-4436b-5p	CLIP-seq
MIRT1195676	hsa-miR-449c	CLIP-seq
MIRT1195677	hsa-miR-4502	CLIP-seq
MIRT1195678	hsa-miR-4653-5p	CLIP-seq
MIRT1195679	hsa-miR-4714-5p	CLIP-seq
MIRT1195680	hsa-miR-4735-5p	CLIP-seq
MIRT1195681	hsa-miR-4755-5p	CLIP-seq
MIRT1195682	hsa-miR-554	CLIP-seq
MIRT1195683	hsa-miR-590-3p	CLIP-seq
MIRT1195684	hsa-miR-623	CLIP-seq
MIRT1195685	hsa-miR-92a	CLIP-seq
MIRT1195686	hsa-miR-92b	CLIP-seq
MIRT1195615	hsa-miR-1290	CLIP-seq
MIRT2056765	hsa-miR-122	CLIP-seq
MIRT2056766	hsa-miR-1236	CLIP-seq
MIRT1195653	hsa-miR-1260	CLIP-seq
MIRT1195654	hsa-miR-1260b	CLIP-seq
MIRT1195613	hsa-miR-128	CLIP-seq
MIRT1195614	hsa-miR-1281	CLIP-seq
MIRT2056767	hsa-miR-130a	CLIP-seq
MIRT2056768	hsa-miR-130b	CLIP-seq
MIRT1195616	hsa-miR-1343	CLIP-seq
MIRT1195618	hsa-miR-183	CLIP-seq
MIRT1195656	hsa-miR-188-3p	CLIP-seq
MIRT2056769	hsa-miR-194	CLIP-seq
MIRT1195657	hsa-miR-204	CLIP-seq
MIRT1195658	hsa-miR-211	CLIP-seq
MIRT2056770	hsa-miR-2355-3p	CLIP-seq
MIRT1195660	hsa-miR-2682	CLIP-seq
MIRT2056771	hsa-miR-300	CLIP-seq
MIRT2056772	hsa-miR-301a	CLIP-seq
MIRT2056773	hsa-miR-301b	CLIP-seq
MIRT2056774	hsa-miR-3121-5p	CLIP-seq
MIRT2056775	hsa-miR-3135b	CLIP-seq
MIRT2056776	hsa-miR-3143	CLIP-seq
MIRT1195661	hsa-miR-3156-3p	CLIP-seq
MIRT2056777	hsa-miR-3157-5p	CLIP-seq
MIRT2056778	hsa-miR-323-3p	CLIP-seq
MIRT2056779	hsa-miR-3652	CLIP-seq
MIRT2056780	hsa-miR-3666	CLIP-seq
MIRT2056781	hsa-miR-3689a-3p	CLIP-seq
MIRT2056782	hsa-miR-3689c	CLIP-seq
MIRT2056783	hsa-miR-381	CLIP-seq
MIRT1195669	hsa-miR-3921	CLIP-seq
MIRT1195671	hsa-miR-4251	CLIP-seq
MIRT1195672	hsa-miR-4277	CLIP-seq
MIRT2056784	hsa-miR-4293	CLIP-seq
MIRT2056785	hsa-miR-4295	CLIP-seq
MIRT1195630	hsa-miR-4299	CLIP-seq
MIRT1195673	hsa-miR-4301	CLIP-seq
MIRT2056786	hsa-miR-4314	CLIP-seq
MIRT2056787	hsa-miR-4326	CLIP-seq
MIRT1195674	hsa-miR-4329	CLIP-seq
MIRT1195631	hsa-miR-4420	CLIP-seq
MIRT1195632	hsa-miR-4422	CLIP-seq
MIRT2056788	hsa-miR-4425	CLIP-seq
MIRT2056789	hsa-miR-4430	CLIP-seq
MIRT1195675	hsa-miR-4436b-5p	CLIP-seq
MIRT2056790	hsa-miR-4446-5p	CLIP-seq
MIRT1195633	hsa-miR-4457	CLIP-seq
MIRT2056791	hsa-miR-4488	CLIP-seq
MIRT1195676	hsa-miR-449c	CLIP-seq
MIRT2056792	hsa-miR-454	CLIP-seq
MIRT2056793	hsa-miR-4646-3p	CLIP-seq
MIRT1195678	hsa-miR-4653-5p	CLIP-seq
MIRT2056794	hsa-miR-4666-3p	CLIP-seq
MIRT2056795	hsa-miR-4667-5p	CLIP-seq
MIRT2056796	hsa-miR-4697-5p	CLIP-seq
MIRT2056797	hsa-miR-4700-5p	CLIP-seq
MIRT1195679	hsa-miR-4714-5p	CLIP-seq
MIRT1195681	hsa-miR-4755-5p	CLIP-seq
MIRT1195639	hsa-miR-4772-3p	CLIP-seq
MIRT2056798	hsa-miR-494	CLIP-seq
MIRT1195641	hsa-miR-513b	CLIP-seq
MIRT1195642	hsa-miR-515-5p	CLIP-seq
MIRT2056799	hsa-miR-543	CLIP-seq
MIRT2056800	hsa-miR-548n	CLIP-seq
MIRT2056801	hsa-miR-548t	CLIP-seq
MIRT2056802	hsa-miR-597	CLIP-seq
MIRT2056803	hsa-miR-622	CLIP-seq
MIRT1195684	hsa-miR-623	CLIP-seq
MIRT2056804	hsa-miR-637	CLIP-seq
MIRT2285197	hsa-miR-106a	CLIP-seq
MIRT2285198	hsa-miR-106b	CLIP-seq
MIRT2056765	hsa-miR-122	CLIP-seq
MIRT2285199	hsa-miR-1225-3p	CLIP-seq
MIRT2285200	hsa-miR-1234	CLIP-seq
MIRT1195614	hsa-miR-1281	CLIP-seq
MIRT2285201	hsa-miR-1298	CLIP-seq
MIRT2285202	hsa-miR-1307	CLIP-seq
MIRT2056767	hsa-miR-130a	CLIP-seq
MIRT2056768	hsa-miR-130b	CLIP-seq
MIRT1195616	hsa-miR-1343	CLIP-seq
MIRT2285203	hsa-miR-1470	CLIP-seq
MIRT2285204	hsa-miR-149	CLIP-seq
MIRT2285205	hsa-miR-150	CLIP-seq
MIRT2285206	hsa-miR-17	CLIP-seq
MIRT1195618	hsa-miR-183	CLIP-seq
MIRT2285207	hsa-miR-20a	CLIP-seq
MIRT2285208	hsa-miR-20b	CLIP-seq
MIRT2285209	hsa-miR-2116	CLIP-seq
MIRT2285210	hsa-miR-24	CLIP-seq
MIRT2056771	hsa-miR-300	CLIP-seq
MIRT2056772	hsa-miR-301a	CLIP-seq
MIRT2056773	hsa-miR-301b	CLIP-seq
MIRT2285211	hsa-miR-302a	CLIP-seq
MIRT2285212	hsa-miR-302b	CLIP-seq
MIRT2285213	hsa-miR-302c	CLIP-seq
MIRT2285214	hsa-miR-302d	CLIP-seq
MIRT2285215	hsa-miR-302e	CLIP-seq
MIRT2285216	hsa-miR-3121-3p	CLIP-seq
MIRT2056775	hsa-miR-3135b	CLIP-seq
MIRT2285217	hsa-miR-338-5p	CLIP-seq
MIRT2285218	hsa-miR-3619-3p	CLIP-seq
MIRT2056779	hsa-miR-3652	CLIP-seq
MIRT1195666	hsa-miR-3653	CLIP-seq
MIRT2285219	hsa-miR-3658	CLIP-seq
MIRT2056780	hsa-miR-3666	CLIP-seq
MIRT2285220	hsa-miR-371b-5p	CLIP-seq
MIRT2285221	hsa-miR-372	CLIP-seq
MIRT2285222	hsa-miR-373	CLIP-seq
MIRT2056783	hsa-miR-381	CLIP-seq
MIRT1195628	hsa-miR-3934	CLIP-seq
MIRT2285223	hsa-miR-3943	CLIP-seq
MIRT2285224	hsa-miR-4273	CLIP-seq
MIRT2285225	hsa-miR-4284	CLIP-seq
MIRT2056785	hsa-miR-4295	CLIP-seq
MIRT1195630	hsa-miR-4299	CLIP-seq
MIRT2285226	hsa-miR-4313	CLIP-seq
MIRT2285227	hsa-miR-4423-5p	CLIP-seq
MIRT2056789	hsa-miR-4430	CLIP-seq
MIRT2056790	hsa-miR-4446-5p	CLIP-seq
MIRT2285228	hsa-miR-4469	CLIP-seq
MIRT2285229	hsa-miR-4534	CLIP-seq
MIRT2056792	hsa-miR-454	CLIP-seq
MIRT2285230	hsa-miR-4638-5p	CLIP-seq
MIRT2285231	hsa-miR-4653-3p	CLIP-seq
MIRT2056794	hsa-miR-4666-3p	CLIP-seq
MIRT2285232	hsa-miR-4667-3p	CLIP-seq
MIRT2285233	hsa-miR-4677-5p	CLIP-seq
MIRT2285234	hsa-miR-4698	CLIP-seq
MIRT2285235	hsa-miR-4731-5p	CLIP-seq
MIRT1195681	hsa-miR-4755-5p	CLIP-seq
MIRT1195639	hsa-miR-4772-3p	CLIP-seq
MIRT2285236	hsa-miR-4776-5p	CLIP-seq
MIRT2285237	hsa-miR-4797-5p	CLIP-seq
MIRT2285238	hsa-miR-490-5p	CLIP-seq
MIRT2285239	hsa-miR-511	CLIP-seq
MIRT2285240	hsa-miR-512-3p	CLIP-seq
MIRT1195642	hsa-miR-515-5p	CLIP-seq
MIRT2285241	hsa-miR-519d	CLIP-seq
MIRT2285242	hsa-miR-520a-3p	CLIP-seq
MIRT2285243	hsa-miR-520b	CLIP-seq
MIRT2285244	hsa-miR-520c-3p	CLIP-seq
MIRT2285245	hsa-miR-520d-3p	CLIP-seq
MIRT2285246	hsa-miR-520e	CLIP-seq
MIRT2285247	hsa-miR-520g	CLIP-seq
MIRT2285248	hsa-miR-520h	CLIP-seq
MIRT2285249	hsa-miR-550a	CLIP-seq
MIRT2285250	hsa-miR-578	CLIP-seq
MIRT2285251	hsa-miR-642a	CLIP-seq
MIRT2285252	hsa-miR-875-3p	CLIP-seq
MIRT2285253	hsa-miR-93	CLIP-seq
MIRT2285204	hsa-miR-149	CLIP-seq
MIRT1195618	hsa-miR-183	CLIP-seq
MIRT1195615	hsa-miR-1290	CLIP-seq
MIRT1195627	hsa-miR-374c	CLIP-seq
MIRT2431648	hsa-miR-4328	CLIP-seq
MIRT2431649	hsa-miR-4803	CLIP-seq
MIRT2056798	hsa-miR-494	CLIP-seq
MIRT1195651	hsa-miR-655	CLIP-seq
MIRT1195615	hsa-miR-1290	CLIP-seq
MIRT1195615	hsa-miR-1290	CLIP-seq
MIRT2583205	hsa-miR-1184	CLIP-seq
MIRT2583206	hsa-miR-1205	CLIP-seq
MIRT2056766	hsa-miR-1236	CLIP-seq
MIRT2583207	hsa-miR-1238	CLIP-seq
MIRT1195653	hsa-miR-1260	CLIP-seq
MIRT1195654	hsa-miR-1260b	CLIP-seq
MIRT1195612	hsa-miR-1273f	CLIP-seq
MIRT1195613	hsa-miR-128	CLIP-seq
MIRT1195614	hsa-miR-1281	CLIP-seq
MIRT2583208	hsa-miR-132	CLIP-seq
MIRT1195616	hsa-miR-1343	CLIP-seq
MIRT1195617	hsa-miR-136	CLIP-seq
MIRT1195655	hsa-miR-137	CLIP-seq
MIRT2583209	hsa-miR-186	CLIP-seq
MIRT1195656	hsa-miR-188-3p	CLIP-seq
MIRT2056769	hsa-miR-194	CLIP-seq
MIRT2583210	hsa-miR-212	CLIP-seq
MIRT2583211	hsa-miR-2467-3p	CLIP-seq
MIRT1195659	hsa-miR-25	CLIP-seq
MIRT2583212	hsa-miR-2681	CLIP-seq
MIRT2056771	hsa-miR-300	CLIP-seq
MIRT2583213	hsa-miR-3124-3p	CLIP-seq
MIRT2583214	hsa-miR-3133	CLIP-seq
MIRT2056776	hsa-miR-3143	CLIP-seq
MIRT2583215	hsa-miR-3149	CLIP-seq
MIRT1195661	hsa-miR-3156-3p	CLIP-seq
MIRT2056777	hsa-miR-3157-5p	CLIP-seq
MIRT2583216	hsa-miR-3158-5p	CLIP-seq
MIRT1195624	hsa-miR-3170	CLIP-seq
MIRT2583217	hsa-miR-3198	CLIP-seq
MIRT1195662	hsa-miR-32	CLIP-seq
MIRT2056778	hsa-miR-323-3p	CLIP-seq
MIRT2285217	hsa-miR-338-5p	CLIP-seq
MIRT1195663	hsa-miR-33a	CLIP-seq
MIRT1195664	hsa-miR-33b	CLIP-seq
MIRT2285218	hsa-miR-3619-3p	CLIP-seq
MIRT1195665	hsa-miR-363	CLIP-seq
MIRT2583218	hsa-miR-3661	CLIP-seq
MIRT1195667	hsa-miR-367	CLIP-seq
MIRT2583219	hsa-miR-3672	CLIP-seq
MIRT2583220	hsa-miR-3678-3p	CLIP-seq
MIRT2583221	hsa-miR-3688-3p	CLIP-seq
MIRT2583222	hsa-miR-369-3p	CLIP-seq
MIRT2583223	hsa-miR-3713	CLIP-seq
MIRT1195627	hsa-miR-374c	CLIP-seq
MIRT2583224	hsa-miR-380	CLIP-seq
MIRT2056783	hsa-miR-381	CLIP-seq
MIRT2583225	hsa-miR-3945	CLIP-seq
MIRT1195629	hsa-miR-411	CLIP-seq
MIRT2583226	hsa-miR-4256	CLIP-seq
MIRT2285224	hsa-miR-4273	CLIP-seq
MIRT2056784	hsa-miR-4293	CLIP-seq
MIRT1195673	hsa-miR-4301	CLIP-seq
MIRT2583227	hsa-miR-4309	CLIP-seq
MIRT2583228	hsa-miR-432	CLIP-seq
MIRT1195633	hsa-miR-4457	CLIP-seq
MIRT2583229	hsa-miR-4520b-3p	CLIP-seq
MIRT2583230	hsa-miR-4529-3p	CLIP-seq
MIRT2583231	hsa-miR-4535	CLIP-seq
MIRT1195634	hsa-miR-4659a-3p	CLIP-seq
MIRT1195635	hsa-miR-4659b-3p	CLIP-seq
MIRT2056794	hsa-miR-4666-3p	CLIP-seq
MIRT2583232	hsa-miR-4688	CLIP-seq
MIRT2583233	hsa-miR-4709-5p	CLIP-seq
MIRT1195637	hsa-miR-4716-5p	CLIP-seq
MIRT2583234	hsa-miR-4726-3p	CLIP-seq
MIRT1195680	hsa-miR-4735-5p	CLIP-seq
MIRT2583235	hsa-miR-4762-3p	CLIP-seq
MIRT2583236	hsa-miR-4775	CLIP-seq
MIRT2285236	hsa-miR-4776-5p	CLIP-seq
MIRT2285238	hsa-miR-490-5p	CLIP-seq
MIRT2583237	hsa-miR-492	CLIP-seq
MIRT2583238	hsa-miR-501-3p	CLIP-seq
MIRT2583239	hsa-miR-502-3p	CLIP-seq
MIRT1195641	hsa-miR-513b	CLIP-seq
MIRT1195642	hsa-miR-515-5p	CLIP-seq
MIRT2056799	hsa-miR-543	CLIP-seq
MIRT2056800	hsa-miR-548n	CLIP-seq
MIRT2056801	hsa-miR-548t	CLIP-seq
MIRT1195682	hsa-miR-554	CLIP-seq
MIRT1195649	hsa-miR-576-5p	CLIP-seq
MIRT2285250	hsa-miR-578	CLIP-seq
MIRT1195683	hsa-miR-590-3p	CLIP-seq
MIRT2056802	hsa-miR-597	CLIP-seq
MIRT2583240	hsa-miR-602	CLIP-seq
MIRT2583241	hsa-miR-631	CLIP-seq
MIRT1195651	hsa-miR-655	CLIP-seq
MIRT2583242	hsa-miR-7	CLIP-seq
MIRT2583243	hsa-miR-767-5p	CLIP-seq
MIRT2285252	hsa-miR-875-3p	CLIP-seq
MIRT2583244	hsa-miR-885-5p	CLIP-seq
MIRT1195685	hsa-miR-92a	CLIP-seq
MIRT1195686	hsa-miR-92b	CLIP-seq
MIRT2583205	hsa-miR-1184	CLIP-seq
MIRT2583206	hsa-miR-1205	CLIP-seq
MIRT2056766	hsa-miR-1236	CLIP-seq
MIRT2583207	hsa-miR-1238	CLIP-seq
MIRT1195653	hsa-miR-1260	CLIP-seq
MIRT1195654	hsa-miR-1260b	CLIP-seq
MIRT1195612	hsa-miR-1273f	CLIP-seq
MIRT1195613	hsa-miR-128	CLIP-seq
MIRT1195614	hsa-miR-1281	CLIP-seq
MIRT1195616	hsa-miR-1343	CLIP-seq
MIRT1195617	hsa-miR-136	CLIP-seq
MIRT1195656	hsa-miR-188-3p	CLIP-seq
MIRT2056769	hsa-miR-194	CLIP-seq
MIRT2583211	hsa-miR-2467-3p	CLIP-seq
MIRT2583212	hsa-miR-2681	CLIP-seq
MIRT2056771	hsa-miR-300	CLIP-seq
MIRT2583213	hsa-miR-3124-3p	CLIP-seq
MIRT2056776	hsa-miR-3143	CLIP-seq
MIRT2583215	hsa-miR-3149	CLIP-seq
MIRT1195661	hsa-miR-3156-3p	CLIP-seq
MIRT2056777	hsa-miR-3157-5p	CLIP-seq
MIRT2583216	hsa-miR-3158-5p	CLIP-seq
MIRT1195624	hsa-miR-3170	CLIP-seq
MIRT2583217	hsa-miR-3198	CLIP-seq
MIRT2056778	hsa-miR-323-3p	CLIP-seq
MIRT2285217	hsa-miR-338-5p	CLIP-seq
MIRT2285218	hsa-miR-3619-3p	CLIP-seq
MIRT2583219	hsa-miR-3672	CLIP-seq
MIRT2583220	hsa-miR-3678-3p	CLIP-seq
MIRT2583221	hsa-miR-3688-3p	CLIP-seq
MIRT2583222	hsa-miR-369-3p	CLIP-seq
MIRT2583223	hsa-miR-3713	CLIP-seq
MIRT1195627	hsa-miR-374c	CLIP-seq
MIRT2583224	hsa-miR-380	CLIP-seq
MIRT2056783	hsa-miR-381	CLIP-seq
MIRT1195629	hsa-miR-411	CLIP-seq
MIRT2056784	hsa-miR-4293	CLIP-seq
MIRT1195673	hsa-miR-4301	CLIP-seq
MIRT2583227	hsa-miR-4309	CLIP-seq
MIRT2583228	hsa-miR-432	CLIP-seq
MIRT1195633	hsa-miR-4457	CLIP-seq
MIRT2583229	hsa-miR-4520b-3p	CLIP-seq
MIRT2583230	hsa-miR-4529-3p	CLIP-seq
MIRT2583231	hsa-miR-4535	CLIP-seq
MIRT1195634	hsa-miR-4659a-3p	CLIP-seq
MIRT1195635	hsa-miR-4659b-3p	CLIP-seq
MIRT2056794	hsa-miR-4666-3p	CLIP-seq
MIRT1195637	hsa-miR-4716-5p	CLIP-seq
MIRT2583234	hsa-miR-4726-3p	CLIP-seq
MIRT2583236	hsa-miR-4775	CLIP-seq
MIRT2285236	hsa-miR-4776-5p	CLIP-seq
MIRT1195640	hsa-miR-4781-3p	CLIP-seq
MIRT2285238	hsa-miR-490-5p	CLIP-seq
MIRT2583237	hsa-miR-492	CLIP-seq
MIRT2583238	hsa-miR-501-3p	CLIP-seq
MIRT2583239	hsa-miR-502-3p	CLIP-seq
MIRT1195641	hsa-miR-513b	CLIP-seq
MIRT1195642	hsa-miR-515-5p	CLIP-seq
MIRT2056799	hsa-miR-543	CLIP-seq
MIRT2056800	hsa-miR-548n	CLIP-seq
MIRT2056801	hsa-miR-548t	CLIP-seq
MIRT1195649	hsa-miR-576-5p	CLIP-seq
MIRT1195683	hsa-miR-590-3p	CLIP-seq
MIRT2056802	hsa-miR-597	CLIP-seq
MIRT1195651	hsa-miR-655	CLIP-seq
MIRT2583242	hsa-miR-7	CLIP-seq
MIRT2583243	hsa-miR-767-5p	CLIP-seq
MIRT2285252	hsa-miR-875-3p	CLIP-seq
MIRT2583244	hsa-miR-885-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000255	Process	Allantoin metabolic process	IDA	21873433
GO:0000255	Process	Allantoin metabolic process	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IDA	21396942
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	9371705
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	21873433
GO:0005829	Component	Cytosol	IDA	9371705
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006202	Process	GMP catabolic process to guanine	IEA
GO:0006204	Process	IMP catabolic process	IDA	21873433
GO:0008253	Function	5'-nucleotidase activity	IBA
GO:0008253	Function	5'-nucleotidase activity	IDA	1659319, 9371705, 10092873, 21873433
GO:0008253	Function	5'-nucleotidase activity	IEA
GO:0008253	Function	5'-nucleotidase activity	ISS
GO:0008253	Function	5'-nucleotidase activity	TAS	7999131
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IDA	10092873, 21396942
GO:0043605	Process	Amide catabolic process	IEA
GO:0046037	Process	GMP metabolic process	IDA	1659319, 9371705
GO:0046037	Process	GMP metabolic process	IEA
GO:0046038	Process	GMP catabolic process	IEA
GO:0046040	Process	IMP metabolic process	IBA
GO:0046040	Process	IMP metabolic process	IDA	1659319, 9371705, 10092873
GO:0046054	Process	DGMP metabolic process	IDA	1659319, 9371705
GO:0046054	Process	DGMP metabolic process	IEA
GO:0046055	Process	DGMP catabolic process	IEA
GO:0046085	Process	Adenosine metabolic process	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050146	Function	Nucleoside phosphotransferase activity	IDA	1659319, 9371705
GO:0050146	Function	Nucleoside phosphotransferase activity	IEA
GO:0050689	Process	Negative regulation of defense response to virus by host	IDA	36159777
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	36159777
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	36159777
GO:0140374	Process	Antiviral innate immune response	IDA	27992402, 28469175

Other IDs

• MIM: 600417
• HGNC: 8022
• e!Ensembl: ENSG00000076685

Protein

• UniProt ID: P49902
• Protein name: Cytosolic purine 5'-nucleotidase (EC 3.1.3.5) (EC 3.1.3.99) (Cytosolic 5'-nucleotidase II) (cN-II) (Cytosolic IMP/GMP-specific 5'-nucleotidase) (Cytosolic nucleoside phosphotransferase 5'N) (EC 2.7.1.77) (High Km 5'-nucleotidase)
• Protein function: Broad specificity cytosolic 5'-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5'-monophosphates (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). In addition, possesses a phosphotransferase acti
• PDB: 2J2C, 2JC9, 2JCM, 2XCV, 2XCW, 2XCX, 2XJB, 2XJC, 2XJD, 2XJE, 2XJF, 4H4B, 5CQZ, 5CR7, 5K7Y, 5L4Z, 5L50, 5OPK, 5OPL, 5OPM, 5OPN, 5OPO, 5OPP, 6DD3, 6DDB, 6DDC, 6DDH, 6DDK, 6DDL, 6DDO, 6DDQ, 6DDX, 6DDY, 6DDZ, 6DE0, 6DE1, 6DE2, 6DE3, 6FIR, 6FIS, 6FIU, 6FIW, 6FXH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05761	5_nucleotid	35 → 489		Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9371705}.
• Sequence:

  MSTSWSDRLQNAADMPANMDKHALKKYRREAYHRVFVNRSLAMEKIKCFGFDMDYTLAVY
  KSPEYESLGFELTVERLVSIGYPQELLSFAYDSTFPTRGLVFDTLYGNLLKVDAYGNLLV
  CAHGFNFIRGPETREQYPNKFIQRDDTERFYILNTLFNLPETYLLACLVDFFTNCPRYTS
  CETGFKDGDLFMSYRSMFQDVRDAVDWVHYKGSLKEKTVENLEKYVVKDGKLPLLLSRMK
  EVGKVFLATNSDYKYTDKIMTYLFDFPHGPKPGSSHRPWQSYFDLILVDARKPLFFGEGT
  VLRQVDTKTGKLKIGTYTGPLQHGIVYSGGSSDTICDLLGAKGKDILYIGDHIFGDILKS
  KKRQGWRTFLVIPELAQELHVWTDKSSLFEELQSLDIFLAELYKHLDSSSNERPDISSIQ
  RRIKKVTHDMDMCYGMMGSLFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAA
  HVLMPHESTVEHTHVDINEMESPLATRNRTSVDFKDTDYKRHQLTRSISEIKPPNLFPLA
  PQEITHCHDEDDDEEEEEEEE

• Sequence length: 561

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
Hereditary spastic paraplegia 45	Likely pathogenic; Pathogenic	rs1457224574, rs753295868, rs587777173, rs886037656, rs886037657, rs587777174, rs886037658, rs1385107002, rs2134504868, rs2494516804, rs770036597, rs768651632, rs769417998, rs1458171628, rs2494459588, rs2494889270, rs759724715, rs375985056, rs1273292745, rs763305896, rs1430860231, rs764453448, rs769873284, rs1419090736	RCV001330410 RCV001352898 RCV000087268 RCV000087269 RCV000087270 RCV000087271 RCV000087272 RCV002250160 RCV002250161 RCV002284297 RCV002289248 RCV003060864 RCV003104643 RCV002780484 RCV002838278 RCV003583550 RCV003885396 RCV003885397 RCV003989271 RCV000652085 RCV000702998 RCV001030784 RCV001035006 RCV001224426	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs753295868	RCV002276708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1273292745	RCV005937375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ 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
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX HEREDITARY SPASTIC PARAPLEGIA	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATED HEREDITARY SPASTIC PARAPLEGIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NT5C2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23377281, 27756303, 29342136, 29535428, 29990496, 30201983, 30910786, 31697823, 6309282		★☆☆☆☆ Found in Text Mining only
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23377281, 27756303, 30910786, 31697823		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	16330448		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	28327087	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	18445485, 22132970		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	30610940		★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 45	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	27759212	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	21777390		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36820551	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28187172, 30037008		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30841438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30841438		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	23453885, 28540026		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23377183, 23377281, 27756303, 30910786, 31697823		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	23377183		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	29226471		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29226471		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29541628, 7512420		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10902787		★☆☆☆☆ Found in Text Mining only
Donohue Syndrome	Leprechaunism syndrome	BEFREE	2871543		★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	28258955		★☆☆☆☆ Found in Text Mining only
GALACTOSIALIDOSIS	Galactosialidosis	BEFREE	22008912		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	9630669		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	31724458		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17399891, 17981778, 26079827, 31692882		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17399891, 17981778, 26079827, 31692882		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30037008	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30798051		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	25361688		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	25419787		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	25419787		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	1338767, 29856036, 6167683		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30803894		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	27756303	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	23133444, 29996846, 30530896	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	12711632, 31724458, 9321742		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	28327087		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23612967		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23755121		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	19415352		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	23377183		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17296311, 29342136, 29535428		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21712425, 27756303, 35984649	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23873772, 29141648	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12823345, 16330448, 19428333, 21712425		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24133626		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28673774		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	29109530		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15923058		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30037008, 34209768	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	29990496		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	21777390		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28187172		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12598314, 24377567, 24913717, 24938475, 25991821, 26079827, 28978040, 29513752, 30037008, 30798051		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30841438		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18004088, 25909885, 25986168, 31426437		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	40624255	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29189159		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24133626, 28401257, 29383123, 29737353		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	18445485		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27390347		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18644162, 29662657		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15917860, 31724458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	29220676	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29383123, 30338784		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	28327087	Associate	★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phosphoribosylpyrophosphate Synthetase Superactivity	Phosphoribosylpyrophosphate Synthetase Superactivity	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	23377183		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29535428, 29990496, 6309282		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23377281, 28157215		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36095024	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	9775218		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10409424, 11891571, 1683837		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15480303		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	21926974, 22688191, 23453885, 26198764, 28540026, 28991256, 29483656, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	21926974, 22688191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	27004590, 27401531, 27424800, 27901213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	27759212	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	28327087		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	19415352, 28327087, 29123918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG	24482476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	24482476, 28884889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	24482476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	28327087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	28327087	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia type 5A, recessive	Spastic paraplegia	BEFREE	28884889		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	28884889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	24133626		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	28327087		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	31842921		★☆☆☆☆ Found in Text Mining only