Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	22978
Gene name	5'-nucleotidase, cytosolic II
Gene symbol	NT5C2
Synonyms (NCBI Gene)	GMPNT5BPNT5SPG45SPG65cN-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]

8 Show/Hide all (8)

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

584 Show/Hide all (584)

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

42 Show/Hide all (42)

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

MIM	HGNC	e!Ensembl
600417	8022	ENSG00000076685

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

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Purine metabolism	Abacavir metabolism
Pyrimidine metabolism	Purine catabolism
Nicotinate and nicotinamide metabolism
Metabolic pathways
Nucleotide metabolism

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary spastic paraplegia 45	Likely pathogenic; Pathogenic	rs1457224574, rs753295868, rs587777173, rs886037656, rs886037657, rs587777174, rs886037658, rs1385107002, rs2134504868, rs2494516804, rs770036597, rs768651632, rs769417998, rs1458171628, rs2494459588 View all (9 more)	RCV001330410 RCV001352898 RCV000087268 RCV000087269 RCV000087270 View all (19 more)	★★★★★ ★★★★★ 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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (46)
ANOREXIA NERVOSA	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	23453885, 31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	23453885, 28540026, 31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45	—	Orphanet	24482476	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	23453885, 31835028, 33479212	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	33199917, 34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	37156939	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370	★★★★★ ★★☆☆☆ 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	24482476, 28327087, 28884889, 29123918, 32153630, ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATED HEREDITARY SPASTIC PARAPLEGIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	32469254, 33619380, 39537608	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	33356394	★★★★★ ★★☆☆☆ 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	30487518, 31879980, 32709000, 36329257, 37947095, 38965376, 39024449, 39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	23453885, 27622933, 30643256, 31835028, 34734193	★★★★★ ★★☆☆☆ 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	33500527	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	22683712	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	27622933	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	38072966	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	30643256	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NT5C2-related disorder	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ 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	21926974, 22688191, 23453885, 26198764, 28540026, 28991256, 29483656, 30285260, 31835028, 32606422, 33479212, 34159505, 35396580, 36137488, 36329495	★★★★★ ★★☆☆☆ 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	26606652	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	36329495, 38374256	★★★★★ ★★☆☆☆ 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	40050615	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (113)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ENTPD1	3	["Spastic paraplegia","Hereditary spastic paraplegia","complex hereditary spastic paraplegia"]	3	["Purine metabolism","Pyrimidine metabolism","Nucleotide metabolism"]	7	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","CTD (Spastic paraplegia)","ClinGen (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)","HPO (Spastic paraplegia)","ClinGen (complex hereditary spastic paraplegia)"]
VPS37A	3	["Spastic paraplegia","Hereditary spastic paraplegia","complex hereditary spastic paraplegia"]	0	[]	8	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","GWAS catalog (Spastic paraplegia)","CTD (Spastic paraplegia)","ClinGen (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)","HPO (Spastic paraplegia)","ClinGen (complex hereditary spastic paraplegia)"]
B4GALNT1	3	["Spastic paraplegia","Hereditary spastic paraplegia","complex hereditary spastic paraplegia"]	0	[]	7	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","CTD (Spastic paraplegia)","ClinGen (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)","HPO (Spastic paraplegia)","ClinGen (complex hereditary spastic paraplegia)"]
TMPRSS5	5	["Anorexia nervosa","Cannabis abuse","Mood disorder","Tourette syndrome","Obsessive-compulsive disorder"]	0	[]	5	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Cannabis abuse)","GWAS catalog (Mood disorder)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
MAG	3	["Spastic paraplegia","Hereditary spastic paraplegia","complex hereditary spastic paraplegia"]	0	[]	7	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","CTD (Spastic paraplegia)","ClinGen (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)","HPO (Spastic paraplegia)","ClinGen (complex hereditary spastic paraplegia)"]

NT5C2 (5'-nucleotidase, cytosolic II)

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