PDE11A (phosphodiesterase 11A)

Gene

• Entrez ID: 50940
• Gene name: Phosphodiesterase 11A
• Gene symbol: PDE11A
• Synonyms (NCBI Gene): PPNAD2
• Chromosome: 2
• Chromosome location: 2q31.2
• Summary: The 3`,5`-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3`,5`-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5`-monophosphates a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76308115	G>A	Pathogenic, likely-benign	Coding sequence variant, stop gained, genic upstream transcript variant
rs77972073	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, genic upstream transcript variant, missense variant
rs188985665	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs202117698	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs756967751	T>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, frameshift variant
rs771254375	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1064795513	T>A	Likely-pathogenic	Splice acceptor variant
rs1553505929	CG>-	Likely-pathogenic	Genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029552	hsa-miR-26b-5p	Microarray	19088304
MIRT672367	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT677447	hsa-miR-1827	HITS-CLIP	23824327
MIRT677446	hsa-miR-3612	HITS-CLIP	23824327
MIRT677445	hsa-miR-650	HITS-CLIP	23824327
MIRT672366	hsa-miR-4284	HITS-CLIP	23824327
MIRT672365	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672364	hsa-miR-7977	HITS-CLIP	23824327
MIRT672368	hsa-miR-433-5p	HITS-CLIP	23824327
MIRT677449	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT677448	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT672367	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT677447	hsa-miR-1827	HITS-CLIP	23824327
MIRT677446	hsa-miR-3612	HITS-CLIP	23824327
MIRT677445	hsa-miR-650	HITS-CLIP	23824327
MIRT672366	hsa-miR-4284	HITS-CLIP	23824327
MIRT672365	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672364	hsa-miR-7977	HITS-CLIP	23824327
MIRT672368	hsa-miR-433-5p	HITS-CLIP	23824327
MIRT672367	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT672366	hsa-miR-4284	HITS-CLIP	23824327
MIRT672365	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672364	hsa-miR-7977	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614466	hsa-miR-3910	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT460288	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT460287	hsa-miR-4302	PAR-CLIP	23592263
MIRT460286	hsa-miR-665	PAR-CLIP	23592263
MIRT460285	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT460284	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT460283	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT460282	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT460281	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT460280	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT460279	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT460278	hsa-miR-1273e	PAR-CLIP	23592263
MIRT672367	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT677447	hsa-miR-1827	HITS-CLIP	23824327
MIRT677446	hsa-miR-3612	HITS-CLIP	23824327
MIRT677445	hsa-miR-650	HITS-CLIP	23824327
MIRT672366	hsa-miR-4284	HITS-CLIP	23824327
MIRT672365	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672364	hsa-miR-7977	HITS-CLIP	23824327
MIRT672368	hsa-miR-433-5p	HITS-CLIP	23824327
MIRT677449	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT677448	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT672367	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT677447	hsa-miR-1827	HITS-CLIP	23824327
MIRT677446	hsa-miR-3612	HITS-CLIP	23824327
MIRT677445	hsa-miR-650	HITS-CLIP	23824327
MIRT672366	hsa-miR-4284	HITS-CLIP	23824327
MIRT672365	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672364	hsa-miR-7977	HITS-CLIP	23824327
MIRT672368	hsa-miR-433-5p	HITS-CLIP	23824327
MIRT672367	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT672366	hsa-miR-4284	HITS-CLIP	23824327
MIRT672365	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672364	hsa-miR-7977	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614466	hsa-miR-3910	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT611707	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT611706	hsa-miR-323a-5p	HITS-CLIP	23824327
MIRT611705	hsa-miR-876-3p	HITS-CLIP	23824327
MIRT611703	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT611704	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT611702	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT611701	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT611700	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT460288	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT460287	hsa-miR-4302	PAR-CLIP	23592263
MIRT460286	hsa-miR-665	PAR-CLIP	23592263
MIRT460285	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT460284	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT460283	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT460282	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT460281	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT460280	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT460279	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT460278	hsa-miR-1273e	PAR-CLIP	23592263
MIRT1219927	hsa-miR-1285	CLIP-seq
MIRT1219928	hsa-miR-129-5p	CLIP-seq
MIRT1219929	hsa-miR-139-3p	CLIP-seq
MIRT1219930	hsa-miR-185	CLIP-seq
MIRT1219931	hsa-miR-25	CLIP-seq
MIRT1219932	hsa-miR-298	CLIP-seq
MIRT1219933	hsa-miR-3128	CLIP-seq
MIRT1219934	hsa-miR-3150b-3p	CLIP-seq
MIRT1219935	hsa-miR-3153	CLIP-seq
MIRT1219936	hsa-miR-3156-3p	CLIP-seq
MIRT1219937	hsa-miR-3158-5p	CLIP-seq
MIRT1219938	hsa-miR-3173-3p	CLIP-seq
MIRT1219939	hsa-miR-3173-5p	CLIP-seq
MIRT1219940	hsa-miR-3187-5p	CLIP-seq
MIRT1219941	hsa-miR-3192	CLIP-seq
MIRT1219942	hsa-miR-32	CLIP-seq
MIRT1219943	hsa-miR-3622a-3p	CLIP-seq
MIRT1219944	hsa-miR-3622b-3p	CLIP-seq
MIRT1219945	hsa-miR-363	CLIP-seq
MIRT1219946	hsa-miR-3664-5p	CLIP-seq
MIRT1219947	hsa-miR-3667-3p	CLIP-seq
MIRT1219948	hsa-miR-367	CLIP-seq
MIRT1219949	hsa-miR-3672	CLIP-seq
MIRT1219950	hsa-miR-3919	CLIP-seq
MIRT1219951	hsa-miR-3942-3p	CLIP-seq
MIRT1219952	hsa-miR-4267	CLIP-seq
MIRT1219953	hsa-miR-4294	CLIP-seq
MIRT1219954	hsa-miR-4301	CLIP-seq
MIRT1219955	hsa-miR-4306	CLIP-seq
MIRT1219956	hsa-miR-4314	CLIP-seq
MIRT1219957	hsa-miR-4325	CLIP-seq
MIRT1219958	hsa-miR-4433	CLIP-seq
MIRT1219959	hsa-miR-4459	CLIP-seq
MIRT1219960	hsa-miR-4464	CLIP-seq
MIRT1219961	hsa-miR-4644	CLIP-seq
MIRT1219962	hsa-miR-4646-5p	CLIP-seq
MIRT1219963	hsa-miR-4652-3p	CLIP-seq
MIRT1219964	hsa-miR-4668-5p	CLIP-seq
MIRT1219965	hsa-miR-4714-5p	CLIP-seq
MIRT1219966	hsa-miR-4748	CLIP-seq
MIRT1219967	hsa-miR-4756-3p	CLIP-seq
MIRT1219968	hsa-miR-4768-3p	CLIP-seq
MIRT1219969	hsa-miR-4784	CLIP-seq
MIRT1219970	hsa-miR-494	CLIP-seq
MIRT1219971	hsa-miR-508-5p	CLIP-seq
MIRT1219972	hsa-miR-544b	CLIP-seq
MIRT1219973	hsa-miR-548v	CLIP-seq
MIRT1219974	hsa-miR-612	CLIP-seq
MIRT1219975	hsa-miR-622	CLIP-seq
MIRT1219976	hsa-miR-654-3p	CLIP-seq
MIRT1219977	hsa-miR-661	CLIP-seq
MIRT1219978	hsa-miR-765	CLIP-seq
MIRT1219979	hsa-miR-766	CLIP-seq
MIRT1219980	hsa-miR-92a	CLIP-seq
MIRT1219981	hsa-miR-92b	CLIP-seq
MIRT1219982	hsa-miR-1207-5p	CLIP-seq
MIRT1219928	hsa-miR-129-5p	CLIP-seq
MIRT1219983	hsa-miR-1297	CLIP-seq
MIRT1219929	hsa-miR-139-3p	CLIP-seq
MIRT1219984	hsa-miR-204	CLIP-seq
MIRT1219985	hsa-miR-211	CLIP-seq
MIRT1219986	hsa-miR-26a	CLIP-seq
MIRT1219987	hsa-miR-26b	CLIP-seq
MIRT1219988	hsa-miR-2964a-3p	CLIP-seq
MIRT1219989	hsa-miR-302f	CLIP-seq
MIRT1219990	hsa-miR-3135b	CLIP-seq
MIRT1219935	hsa-miR-3153	CLIP-seq
MIRT1219991	hsa-miR-3159	CLIP-seq
MIRT1219992	hsa-miR-3161	CLIP-seq
MIRT1219993	hsa-miR-3164	CLIP-seq
MIRT1219941	hsa-miR-3192	CLIP-seq
MIRT1219994	hsa-miR-3652	CLIP-seq
MIRT1219946	hsa-miR-3664-5p	CLIP-seq
MIRT1219949	hsa-miR-3672	CLIP-seq
MIRT1219995	hsa-miR-3688-3p	CLIP-seq
MIRT1219950	hsa-miR-3919	CLIP-seq
MIRT1219951	hsa-miR-3942-3p	CLIP-seq
MIRT1219996	hsa-miR-4269	CLIP-seq
MIRT1219956	hsa-miR-4314	CLIP-seq
MIRT1219997	hsa-miR-4320	CLIP-seq
MIRT1219998	hsa-miR-4430	CLIP-seq
MIRT1219999	hsa-miR-4434	CLIP-seq
MIRT1220000	hsa-miR-4446-5p	CLIP-seq
MIRT1220001	hsa-miR-4465	CLIP-seq
MIRT1220002	hsa-miR-4516	CLIP-seq
MIRT1220003	hsa-miR-4531	CLIP-seq
MIRT1219962	hsa-miR-4646-5p	CLIP-seq
MIRT1220004	hsa-miR-4662a-5p	CLIP-seq
MIRT1219964	hsa-miR-4668-5p	CLIP-seq
MIRT1220005	hsa-miR-4670-3p	CLIP-seq
MIRT1220006	hsa-miR-4676-5p	CLIP-seq
MIRT1219965	hsa-miR-4714-5p	CLIP-seq
MIRT1220007	hsa-miR-4736	CLIP-seq
MIRT1220008	hsa-miR-4755-3p	CLIP-seq
MIRT1220009	hsa-miR-4755-5p	CLIP-seq
MIRT1219967	hsa-miR-4756-3p	CLIP-seq
MIRT1220010	hsa-miR-4763-3p	CLIP-seq
MIRT1220011	hsa-miR-485-5p	CLIP-seq
MIRT1219970	hsa-miR-494	CLIP-seq
MIRT1220012	hsa-miR-561	CLIP-seq
MIRT1220013	hsa-miR-569	CLIP-seq
MIRT1220014	hsa-miR-575	CLIP-seq
MIRT1220015	hsa-miR-579	CLIP-seq
MIRT1219975	hsa-miR-622	CLIP-seq
MIRT1220016	hsa-miR-623	CLIP-seq
MIRT1220017	hsa-miR-635	CLIP-seq
MIRT1220018	hsa-miR-651	CLIP-seq
MIRT1220019	hsa-miR-105	CLIP-seq
MIRT1220020	hsa-miR-1227	CLIP-seq
MIRT1220021	hsa-miR-1234	CLIP-seq
MIRT1220022	hsa-miR-1256	CLIP-seq
MIRT1220023	hsa-miR-1262	CLIP-seq
MIRT1220024	hsa-miR-1284	CLIP-seq
MIRT1220025	hsa-miR-1293	CLIP-seq
MIRT1219928	hsa-miR-129-5p	CLIP-seq
MIRT1219929	hsa-miR-139-3p	CLIP-seq
MIRT1220026	hsa-miR-1976	CLIP-seq
MIRT1220027	hsa-miR-214	CLIP-seq
MIRT1220028	hsa-miR-24	CLIP-seq
MIRT1220029	hsa-miR-2467-5p	CLIP-seq
MIRT1219989	hsa-miR-302f	CLIP-seq
MIRT1220030	hsa-miR-3121-3p	CLIP-seq
MIRT1219933	hsa-miR-3128	CLIP-seq
MIRT1219990	hsa-miR-3135b	CLIP-seq
MIRT1220031	hsa-miR-3148	CLIP-seq
MIRT1220032	hsa-miR-3152-3p	CLIP-seq
MIRT1220033	hsa-miR-3152-5p	CLIP-seq
MIRT1219935	hsa-miR-3153	CLIP-seq
MIRT1220034	hsa-miR-3188	CLIP-seq
MIRT1219941	hsa-miR-3192	CLIP-seq
MIRT1220035	hsa-miR-323b-3p	CLIP-seq
MIRT1220036	hsa-miR-34a	CLIP-seq
MIRT1220037	hsa-miR-34c-5p	CLIP-seq
MIRT1220038	hsa-miR-3607-3p	CLIP-seq
MIRT1220039	hsa-miR-3616-3p	CLIP-seq
MIRT1220040	hsa-miR-3619-5p	CLIP-seq
MIRT1219943	hsa-miR-3622a-3p	CLIP-seq
MIRT1219944	hsa-miR-3622b-3p	CLIP-seq
MIRT1220041	hsa-miR-365	CLIP-seq
MIRT1219994	hsa-miR-3652	CLIP-seq
MIRT1219946	hsa-miR-3664-5p	CLIP-seq
MIRT1220042	hsa-miR-3671	CLIP-seq
MIRT1219949	hsa-miR-3672	CLIP-seq
MIRT1220043	hsa-miR-3686	CLIP-seq
MIRT1219950	hsa-miR-3919	CLIP-seq
MIRT1220044	hsa-miR-3929	CLIP-seq
MIRT1219951	hsa-miR-3942-3p	CLIP-seq
MIRT1220045	hsa-miR-3975	CLIP-seq
MIRT1220046	hsa-miR-4252	CLIP-seq
MIRT1220047	hsa-miR-4258	CLIP-seq
MIRT1220048	hsa-miR-4263	CLIP-seq
MIRT1220049	hsa-miR-4290	CLIP-seq
MIRT1220050	hsa-miR-4291	CLIP-seq
MIRT1220051	hsa-miR-4297	CLIP-seq
MIRT1219956	hsa-miR-4314	CLIP-seq
MIRT1220052	hsa-miR-4419b	CLIP-seq
MIRT1219998	hsa-miR-4430	CLIP-seq
MIRT1219958	hsa-miR-4433	CLIP-seq
MIRT1220053	hsa-miR-4436b-3p	CLIP-seq
MIRT1220054	hsa-miR-4438	CLIP-seq
MIRT1220055	hsa-miR-4454	CLIP-seq
MIRT1219959	hsa-miR-4459	CLIP-seq
MIRT1220056	hsa-miR-4470	CLIP-seq
MIRT1220057	hsa-miR-4478	CLIP-seq
MIRT1220058	hsa-miR-4483	CLIP-seq
MIRT1220059	hsa-miR-449a	CLIP-seq
MIRT1220060	hsa-miR-449b	CLIP-seq
MIRT1219962	hsa-miR-4646-5p	CLIP-seq
MIRT1220061	hsa-miR-4649-3p	CLIP-seq
MIRT1220062	hsa-miR-4659a-5p	CLIP-seq
MIRT1220063	hsa-miR-4659b-5p	CLIP-seq
MIRT1220004	hsa-miR-4662a-5p	CLIP-seq
MIRT1219964	hsa-miR-4668-5p	CLIP-seq
MIRT1220006	hsa-miR-4676-5p	CLIP-seq
MIRT1220064	hsa-miR-4701-3p	CLIP-seq
MIRT1220065	hsa-miR-4707-3p	CLIP-seq
MIRT1219965	hsa-miR-4714-5p	CLIP-seq
MIRT1220066	hsa-miR-4731-5p	CLIP-seq
MIRT1220067	hsa-miR-4753-3p	CLIP-seq
MIRT1219967	hsa-miR-4756-3p	CLIP-seq
MIRT1220068	hsa-miR-4765	CLIP-seq
MIRT1219968	hsa-miR-4768-3p	CLIP-seq
MIRT1220069	hsa-miR-4776-3p	CLIP-seq
MIRT1220070	hsa-miR-4796-5p	CLIP-seq
MIRT1220071	hsa-miR-4799-5p	CLIP-seq
MIRT1220011	hsa-miR-485-5p	CLIP-seq
MIRT1220072	hsa-miR-488	CLIP-seq
MIRT1219970	hsa-miR-494	CLIP-seq
MIRT1220073	hsa-miR-5095	CLIP-seq
MIRT1220074	hsa-miR-5096	CLIP-seq
MIRT1220075	hsa-miR-511	CLIP-seq
MIRT1220076	hsa-miR-515-5p	CLIP-seq
MIRT1220077	hsa-miR-542-3p	CLIP-seq
MIRT1219972	hsa-miR-544b	CLIP-seq
MIRT1220012	hsa-miR-561	CLIP-seq
MIRT1220013	hsa-miR-569	CLIP-seq
MIRT1220014	hsa-miR-575	CLIP-seq
MIRT1220078	hsa-miR-576-5p	CLIP-seq
MIRT1220079	hsa-miR-578	CLIP-seq
MIRT1220080	hsa-miR-607	CLIP-seq
MIRT1219975	hsa-miR-622	CLIP-seq
MIRT1219977	hsa-miR-661	CLIP-seq
MIRT1220081	hsa-miR-759	CLIP-seq
MIRT1220082	hsa-miR-761	CLIP-seq
MIRT1219979	hsa-miR-766	CLIP-seq
MIRT1220083	hsa-miR-889	CLIP-seq
MIRT1220084	hsa-miR-922	CLIP-seq
MIRT1220085	hsa-miR-940	CLIP-seq
MIRT1219928	hsa-miR-129-5p	CLIP-seq
MIRT1219929	hsa-miR-139-3p	CLIP-seq
MIRT1219949	hsa-miR-3672	CLIP-seq
MIRT1219928	hsa-miR-129-5p	CLIP-seq
MIRT1219929	hsa-miR-139-3p	CLIP-seq
MIRT1219949	hsa-miR-3672	CLIP-seq
MIRT2063579	hsa-miR-1184	CLIP-seq
MIRT1220020	hsa-miR-1227	CLIP-seq
MIRT2063580	hsa-miR-1228	CLIP-seq
MIRT1220023	hsa-miR-1262	CLIP-seq
MIRT2063581	hsa-miR-219-5p	CLIP-seq
MIRT1219931	hsa-miR-25	CLIP-seq
MIRT1219942	hsa-miR-32	CLIP-seq
MIRT1219945	hsa-miR-363	CLIP-seq
MIRT1219948	hsa-miR-367	CLIP-seq
MIRT1220046	hsa-miR-4252	CLIP-seq
MIRT2063582	hsa-miR-4281	CLIP-seq
MIRT1220049	hsa-miR-4290	CLIP-seq
MIRT1219957	hsa-miR-4325	CLIP-seq
MIRT2063583	hsa-miR-4445	CLIP-seq
MIRT2063584	hsa-miR-451b	CLIP-seq
MIRT2063585	hsa-miR-4696	CLIP-seq
MIRT1220064	hsa-miR-4701-3p	CLIP-seq
MIRT2063586	hsa-miR-4782-3p	CLIP-seq
MIRT2063587	hsa-miR-508-3p	CLIP-seq
MIRT1219971	hsa-miR-508-5p	CLIP-seq
MIRT1220077	hsa-miR-542-3p	CLIP-seq
MIRT1219977	hsa-miR-661	CLIP-seq
MIRT1219979	hsa-miR-766	CLIP-seq
MIRT1219980	hsa-miR-92a	CLIP-seq
MIRT1219981	hsa-miR-92b	CLIP-seq
MIRT2292075	hsa-miR-4668-3p	CLIP-seq
MIRT1220020	hsa-miR-1227	CLIP-seq
MIRT1220023	hsa-miR-1262	CLIP-seq
MIRT1219927	hsa-miR-1285	CLIP-seq
MIRT2063581	hsa-miR-219-5p	CLIP-seq
MIRT1219931	hsa-miR-25	CLIP-seq
MIRT1219940	hsa-miR-3187-5p	CLIP-seq
MIRT1219942	hsa-miR-32	CLIP-seq
MIRT1219945	hsa-miR-363	CLIP-seq
MIRT1219948	hsa-miR-367	CLIP-seq
MIRT1220046	hsa-miR-4252	CLIP-seq
MIRT1220049	hsa-miR-4290	CLIP-seq
MIRT1219957	hsa-miR-4325	CLIP-seq
MIRT1219958	hsa-miR-4433	CLIP-seq
MIRT2063583	hsa-miR-4445	CLIP-seq
MIRT1219959	hsa-miR-4459	CLIP-seq
MIRT2063584	hsa-miR-451b	CLIP-seq
MIRT1220064	hsa-miR-4701-3p	CLIP-seq
MIRT1219965	hsa-miR-4714-5p	CLIP-seq
MIRT2063586	hsa-miR-4782-3p	CLIP-seq
MIRT2063587	hsa-miR-508-3p	CLIP-seq
MIRT1219971	hsa-miR-508-5p	CLIP-seq
MIRT1220077	hsa-miR-542-3p	CLIP-seq
MIRT1220015	hsa-miR-579	CLIP-seq
MIRT1219974	hsa-miR-612	CLIP-seq
MIRT1219977	hsa-miR-661	CLIP-seq
MIRT1219979	hsa-miR-766	CLIP-seq
MIRT1219980	hsa-miR-92a	CLIP-seq
MIRT1219981	hsa-miR-92b	CLIP-seq
MIRT2392260	hsa-miR-1233	CLIP-seq
MIRT2392261	hsa-miR-3122	CLIP-seq
MIRT2392262	hsa-miR-3689a-3p	CLIP-seq
MIRT2392263	hsa-miR-3689c	CLIP-seq
MIRT2392264	hsa-miR-3714	CLIP-seq
MIRT2392265	hsa-miR-3913-5p	CLIP-seq
MIRT1219959	hsa-miR-4459	CLIP-seq
MIRT2392266	hsa-miR-4722-5p	CLIP-seq
MIRT2392267	hsa-miR-4728-5p	CLIP-seq
MIRT1220085	hsa-miR-940	CLIP-seq
MIRT1219928	hsa-miR-129-5p	CLIP-seq
MIRT1219929	hsa-miR-139-3p	CLIP-seq
MIRT1219949	hsa-miR-3672	CLIP-seq
MIRT1219928	hsa-miR-129-5p	CLIP-seq
MIRT1219929	hsa-miR-139-3p	CLIP-seq
MIRT1219949	hsa-miR-3672	CLIP-seq
MIRT2456061	hsa-miR-10a	CLIP-seq
MIRT2456062	hsa-miR-10b	CLIP-seq
MIRT2456063	hsa-miR-339-5p	CLIP-seq
MIRT2456064	hsa-miR-3613-3p	CLIP-seq
MIRT2456065	hsa-miR-3618	CLIP-seq
MIRT2456066	hsa-miR-3667-5p	CLIP-seq
MIRT2456067	hsa-miR-371-5p	CLIP-seq
MIRT2456068	hsa-miR-371b-5p	CLIP-seq
MIRT2456069	hsa-miR-4264	CLIP-seq
MIRT2456070	hsa-miR-4421	CLIP-seq
MIRT1220004	hsa-miR-4662a-5p	CLIP-seq
MIRT1220006	hsa-miR-4676-5p	CLIP-seq
MIRT2456071	hsa-miR-4711-3p	CLIP-seq
MIRT2456072	hsa-miR-4725-5p	CLIP-seq
MIRT1220008	hsa-miR-4755-3p	CLIP-seq
MIRT2456073	hsa-miR-495	CLIP-seq
MIRT2456074	hsa-miR-504	CLIP-seq
MIRT2456075	hsa-miR-548k	CLIP-seq
MIRT2456076	hsa-miR-548n	CLIP-seq
MIRT2456077	hsa-miR-548t	CLIP-seq
MIRT1220014	hsa-miR-575	CLIP-seq
MIRT1219975	hsa-miR-622	CLIP-seq
MIRT2456078	hsa-miR-934	CLIP-seq
MIRT2456061	hsa-miR-10a	CLIP-seq
MIRT2456062	hsa-miR-10b	CLIP-seq
MIRT2456064	hsa-miR-3613-3p	CLIP-seq
MIRT2456065	hsa-miR-3618	CLIP-seq
MIRT2456067	hsa-miR-371-5p	CLIP-seq
MIRT2456068	hsa-miR-371b-5p	CLIP-seq
MIRT2456069	hsa-miR-4264	CLIP-seq
MIRT1220004	hsa-miR-4662a-5p	CLIP-seq
MIRT1220006	hsa-miR-4676-5p	CLIP-seq
MIRT2456071	hsa-miR-4711-3p	CLIP-seq
MIRT2456073	hsa-miR-495	CLIP-seq
MIRT2456075	hsa-miR-548k	CLIP-seq
MIRT2456076	hsa-miR-548n	CLIP-seq
MIRT2456077	hsa-miR-548t	CLIP-seq
MIRT1220014	hsa-miR-575	CLIP-seq
MIRT1219975	hsa-miR-622	CLIP-seq
MIRT2456078	hsa-miR-934	CLIP-seq
MIRT2456061	hsa-miR-10a	CLIP-seq
MIRT2456062	hsa-miR-10b	CLIP-seq
MIRT1219927	hsa-miR-1285	CLIP-seq
MIRT1219931	hsa-miR-25	CLIP-seq
MIRT1219940	hsa-miR-3187-5p	CLIP-seq
MIRT1219942	hsa-miR-32	CLIP-seq
MIRT2456063	hsa-miR-339-5p	CLIP-seq
MIRT2456064	hsa-miR-3613-3p	CLIP-seq
MIRT2456065	hsa-miR-3618	CLIP-seq
MIRT1219945	hsa-miR-363	CLIP-seq
MIRT2456066	hsa-miR-3667-5p	CLIP-seq
MIRT1219948	hsa-miR-367	CLIP-seq
MIRT2456067	hsa-miR-371-5p	CLIP-seq
MIRT2456068	hsa-miR-371b-5p	CLIP-seq
MIRT1219957	hsa-miR-4325	CLIP-seq
MIRT2456070	hsa-miR-4421	CLIP-seq
MIRT1220004	hsa-miR-4662a-5p	CLIP-seq
MIRT1220006	hsa-miR-4676-5p	CLIP-seq
MIRT2456071	hsa-miR-4711-3p	CLIP-seq
MIRT2456072	hsa-miR-4725-5p	CLIP-seq
MIRT1220008	hsa-miR-4755-3p	CLIP-seq
MIRT2456074	hsa-miR-504	CLIP-seq
MIRT1219971	hsa-miR-508-5p	CLIP-seq
MIRT2456075	hsa-miR-548k	CLIP-seq
MIRT2456076	hsa-miR-548n	CLIP-seq
MIRT2456077	hsa-miR-548t	CLIP-seq
MIRT1220014	hsa-miR-575	CLIP-seq
MIRT1219974	hsa-miR-612	CLIP-seq
MIRT1219977	hsa-miR-661	CLIP-seq
MIRT1219979	hsa-miR-766	CLIP-seq
MIRT1219980	hsa-miR-92a	CLIP-seq
MIRT1219981	hsa-miR-92b	CLIP-seq
MIRT2456078	hsa-miR-934	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004112	Function	Cyclic-nucleotide phosphodiesterase activity	NAS	10906126
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	TAS	10725373
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IBA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IEA
GO:0004118	Function	3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity	IBA
GO:0004118	Function	3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity	IDA	19689430
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10725373
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0010754	Process	Negative regulation of cGMP-mediated signaling	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030553	Function	CGMP binding	IDA	19689430
GO:0030553	Function	CGMP binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IBA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IEA
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IBA

Other IDs

• MIM: 604961
• HGNC: 8773
• e!Ensembl: ENSG00000128655

Protein

• UniProt ID: Q9HCR9
• Protein name: Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A (EC 3.1.4.35) (EC 3.1.4.53) (cAMP and cGMP phosphodiesterase 11A)
• Protein function: Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP (PubMed:10725373, PubMed:10906126, PubMed:11050148, PubMed:16330539). Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01590	GAF	217 → 370	GAF domain	Domain
  PF01590	GAF	402 → 558	GAF domain	Domain
  PF00233	PDEase_I	663 → 899		Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is present in prostate, pituitary, heart and liver. It is however not present in testis nor in penis, suggesting that weak inhibition by Tadalafil (Cialis) is not relevant (at protein level). Isoform 2 may be expressed in tes
• Sequence:

  MAASRLDFGEVETFLDRHPELFEDYLMRKGKQEMVEKWLQRHSQGQGALGPRPSLAGTSS
  LAHSTCRGGSSVGGGTGPNGSAHSQPLPGGGDCGGVPLSPSWAGGSRGDGNLQRRASQKE
  LRKSFARSKAIHVNRTYDEQVTSRAQEPLSSVRRRALLRKASSLPPTTAHILSALLESRV
  NLPRYPPTAIDYKCHLKKHNERQFFLELVKDISNDLDLTSLSYKILIFVCLMVDADRCSL
  FLVEGAAAGKKTLVSKFFDVHAGTPLLPCSSTENSNEVQVPWGKGIIGYVGEHGETVNIP
  DAYQDRRFNDEIDKLTGYKTKSLLCMPIRSSDGEIIGVAQAINKIPEGAPFTEDDEKVMQ
  MYLPFCGIAISNAQLFAASRKEYERSRALLEVVNDLFEEQTDLEKIVKKIMHRAQTLLKC
  ERCSVLLLEDIESPVVKFTKSFELMSPKCSADAENSFKESMEKSSYSDWLINNSIAELVA
  STGLPVNISDAYQDPRFDAEADQISGFHIRSVLCVPIWNSNHQIIGVAQVLNRLDGKPFD
  DADQRLFEAFVIFCGLGINNTIMYDQVKKSWAKQSVALDVLSYHATCSKAEVDKFKAANI
  PLVSELAIDDIHFDDFSLDVDAMITAALRMFMELGMVQKFKIDYETLCRWLLTVRKNYRM
  VLYHNWRHAFNVCQLMFAMLTTAGFQDILTEVEILAVIVGCLCHDLDHRGTNNAFQAKSG
  SALAQLYGTSATLEHHHFNHAVMILQSEGHNIFANLSSKEYSDLMQLLKQSILATDLTLY
  FERRTEFFELVSKGEYDWNIKNHRDIFRSMLMTACDLGAVTKPWEISRQVAELVTSEFFE
  QGDRERLELKLTPSAIFDRNRKDELPRLQLEWIDSICMPLYQALVKVNVKLKPMLDSVAT
  NRSKWEELHQKRLLASTASSSPASVMVAKEDRN

• Sequence length: 933

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Cushing syndrome
Morphine addiction

Reactome:

cGMP effects
G alpha (s) signalling events

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
Pigmented nodular adrenocortical disease, primary, 2	Likely pathogenic; Pathogenic	rs2105727398, rs2105581875, rs1574084195, rs769235876, rs771254375, rs769095538	RCV001782587 RCV001782588 RCV001809212 RCV000490402 RCV000490291 RCV003135609	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome 16	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNEY COMPLEX	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDE11A-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	BEFREE	18559625, 22996146		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	17178847		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18491255, 19671705, 22476103, 29183089		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	18559625, 19522821		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	21047926, 22996146		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	BEFREE	19063937, 21115159		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	18491255, 18559625, 20351491, 22996146, 26459559, 35929507	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	18559625, 22476103		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	18559625		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33835157	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	18559625		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	20920776		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	27646265		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30947698	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney complex	Pubtator	19522821, 21047926	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carney Complex	Carney Complex	BEFREE	21047926, 22476103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carney Triad	Carney Triad	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	19063937, 21115159		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28383543		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	18491255, 18559625, 19063937, 19509103, 20829611, 21115159, 26820475		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	18491255, 18559625, 20351491, 30568069, 35929507	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	19549888, 23771924, 26459559		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35929507	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	18491255	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	19549888	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26820475		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	17008408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	17008408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	18559625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20881257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	26459559		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	26459559		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17178847, 18559625, 19671705, 20833340, 21047926, 22996146, 26459559		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	33707600	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26820475		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	38027204	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	28383543		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	Paraganglioma and gastric stromal sarcoma	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	40240887	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented Nodular Adrenocortical Disease	GENOMICS_ENGLAND_DG	16767104		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented Nodular Adrenocortical Disease	CLINVAR_DG	16767104		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented Nodular Adrenocortical Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary hypercortisolism	Hypercortisolism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary pigmented nodular adrenocortical disease	Pigmented Nodular Adrenocortical Disease	ORPHANET_DG	16767104		★☆☆☆☆ Found in Text Mining only
Primary pigmented nodular adrenocortical disease	Pigmented Nodular Adrenocortical Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Primary pigmented nodular adrenocortical disease	Pigmented Nodular Adrenocortical Disease	BEFREE	18491255, 30568069		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20881257	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	35929507	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	19549888, 26459559		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	19549888, 23771924, 26459559, 33661511	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	19671705, 21047926		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	20881257, 21047926, 26459559, 33661511	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	17008408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visceral Myopathy	Visceral Myopathy	BEFREE	28383543		★☆☆☆☆ Found in Text Mining only