PDE4D (phosphodiesterase 4D)

Gene

• Entrez ID: 5144
• Gene name: Phosphodiesterase 4D
• Gene symbol: PDE4D
• Synonyms (NCBI Gene): ACRDYS2, DPDE3, HSPDE4D, PDE43, PDE4DN2, STRK1
• Chromosome: 5
• Chromosome location: 5q11.2-q12.1
• Summary: This gene encodes one of four mammalian counterparts to the fruit fly `dunce` gene. The encoded protein has 3`,5`-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906744	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs397514464	G>T	Pathogenic	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs397514465	A>C,G	Pathogenic	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs397514466	A>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs397514467	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs397514468	G>C	Pathogenic	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs397514469	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs397515433	G>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs587777188	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1057520731	A>C	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs1554033904	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1554033934	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1554039692	A>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018254	hsa-miR-335-5p	Microarray	18185580
MIRT019645	hsa-miR-340-5p	Sequencing	20371350
MIRT025858	hsa-miR-7-5p	Microarray	17612493
MIRT027087	hsa-miR-103a-3p	Sequencing	20371350
MIRT031236	hsa-miR-19b-3p	Sequencing	20371350
MIRT031356	hsa-miR-18a-5p	Sequencing	20371350
MIRT031849	hsa-miR-16-5p	Sequencing	20371350
MIRT700987	hsa-miR-424-3p	HITS-CLIP	23313552
MIRT700986	hsa-miR-3646	HITS-CLIP	23313552
MIRT700985	hsa-miR-3120-3p	HITS-CLIP	23313552
MIRT700984	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT700983	hsa-miR-6080	HITS-CLIP	23313552
MIRT700982	hsa-miR-642a-3p	HITS-CLIP	23313552
MIRT700981	hsa-miR-642b-3p	HITS-CLIP	23313552
MIRT700980	hsa-miR-4266	HITS-CLIP	23313552
MIRT700979	hsa-miR-4325	HITS-CLIP	23313552
MIRT700978	hsa-miR-3611	HITS-CLIP	23313552
MIRT471502	hsa-miR-548ac	PAR-CLIP	21572407
MIRT471500	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT471499	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT471498	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT471497	hsa-miR-548z	PAR-CLIP	21572407
MIRT471496	hsa-miR-6835-3p	PAR-CLIP	21572407
MIRT555726	hsa-miR-4422	PAR-CLIP	21572407
MIRT471495	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT471494	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031849	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT471493	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT471492	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT471491	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT471490	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT471489	hsa-miR-6783-5p	PAR-CLIP	21572407
MIRT471488	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT471487	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT471486	hsa-miR-4457	PAR-CLIP	21572407
MIRT471484	hsa-miR-3148	PAR-CLIP	21572407
MIRT471485	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT019645	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT535444	hsa-miR-1324	PAR-CLIP	22012620
MIRT535443	hsa-miR-4682	PAR-CLIP	22012620
MIRT535442	hsa-miR-4502	PAR-CLIP	22012620
MIRT535441	hsa-miR-4513	PAR-CLIP	22012620
MIRT535440	hsa-miR-6855-3p	PAR-CLIP	22012620
MIRT535439	hsa-miR-6857-3p	PAR-CLIP	22012620
MIRT535438	hsa-miR-3136-5p	PAR-CLIP	22012620
MIRT535437	hsa-miR-4439	PAR-CLIP	22012620
MIRT471508	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT471507	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT031356	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT471506	hsa-miR-4282	PAR-CLIP	23592263
MIRT471505	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT471501	hsa-miR-7158-3p	PAR-CLIP	23592263
MIRT471508	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT471507	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT031356	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT471506	hsa-miR-4282	PAR-CLIP	23592263
MIRT471505	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT471504	hsa-miR-302f	PAR-CLIP	23592263
MIRT471503	hsa-miR-31-3p	PAR-CLIP	23592263
MIRT471501	hsa-miR-7158-3p	PAR-CLIP	23592263
MIRT471502	hsa-miR-548ac	PAR-CLIP	23592263
MIRT471500	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT471499	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT471498	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT471497	hsa-miR-548z	PAR-CLIP	23592263
MIRT471496	hsa-miR-6835-3p	PAR-CLIP	23592263
MIRT471495	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT471494	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT031849	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT471493	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT471492	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT471491	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT471490	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT471489	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT471488	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT471487	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT471486	hsa-miR-4457	PAR-CLIP	23592263
MIRT471484	hsa-miR-3148	PAR-CLIP	23592263
MIRT471485	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT756380	hsa-miR-139-5p	Immunoblot, Luciferase reporter assay, qRT-PCR	27383270
MIRT735265	hsa-miR-105-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33985571
MIRT736009	hsa-miR-373-3p	Western blotting, qRT-PCR	31572429
MIRT700987	hsa-miR-424-3p	HITS-CLIP	23313552
MIRT700986	hsa-miR-3646	HITS-CLIP	23313552
MIRT700985	hsa-miR-3120-3p	HITS-CLIP	23313552
MIRT700984	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT700983	hsa-miR-6080	HITS-CLIP	23313552
MIRT700982	hsa-miR-642a-3p	HITS-CLIP	23313552
MIRT700981	hsa-miR-642b-3p	HITS-CLIP	23313552
MIRT700980	hsa-miR-4266	HITS-CLIP	23313552
MIRT700979	hsa-miR-4325	HITS-CLIP	23313552
MIRT700978	hsa-miR-3611	HITS-CLIP	23313552
MIRT471502	hsa-miR-548ac	PAR-CLIP	21572407
MIRT471500	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT471499	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT471498	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT471497	hsa-miR-548z	PAR-CLIP	21572407
MIRT471496	hsa-miR-6835-3p	PAR-CLIP	21572407
MIRT555726	hsa-miR-4422	PAR-CLIP	21572407
MIRT471495	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT471494	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031849	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT471493	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT471492	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT471491	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT471490	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT471489	hsa-miR-6783-5p	PAR-CLIP	21572407
MIRT471488	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT471487	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT471486	hsa-miR-4457	PAR-CLIP	21572407
MIRT471484	hsa-miR-3148	PAR-CLIP	21572407
MIRT471485	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT019645	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT535444	hsa-miR-1324	PAR-CLIP	22012620
MIRT535443	hsa-miR-4682	PAR-CLIP	22012620
MIRT535442	hsa-miR-4502	PAR-CLIP	22012620
MIRT535441	hsa-miR-4513	PAR-CLIP	22012620
MIRT535440	hsa-miR-6855-3p	PAR-CLIP	22012620
MIRT535439	hsa-miR-6857-3p	PAR-CLIP	22012620
MIRT535438	hsa-miR-3136-5p	PAR-CLIP	22012620
MIRT535437	hsa-miR-4439	PAR-CLIP	22012620
MIRT471508	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT471507	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT031356	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT471506	hsa-miR-4282	PAR-CLIP	23592263
MIRT471505	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT471501	hsa-miR-7158-3p	PAR-CLIP	23592263
MIRT471508	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT471507	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT031356	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT471506	hsa-miR-4282	PAR-CLIP	23592263
MIRT471505	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT471504	hsa-miR-302f	PAR-CLIP	23592263
MIRT471503	hsa-miR-31-3p	PAR-CLIP	23592263
MIRT471501	hsa-miR-7158-3p	PAR-CLIP	23592263
MIRT471502	hsa-miR-548ac	PAR-CLIP	23592263
MIRT471500	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT471499	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT471498	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT471497	hsa-miR-548z	PAR-CLIP	23592263
MIRT471496	hsa-miR-6835-3p	PAR-CLIP	23592263
MIRT471495	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT471494	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT031849	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT471493	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT471492	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT471491	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT471490	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT471489	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT471488	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT471487	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT471486	hsa-miR-4457	PAR-CLIP	23592263
MIRT471484	hsa-miR-3148	PAR-CLIP	23592263
MIRT471485	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT756308	hsa-miR-370-5p	qRT-PCR	38247802
MIRT756380	hsa-miR-139-5p	Luciferase reporter assay, Western blotting	37794118
MIRT1220599	hsa-miR-101	CLIP-seq
MIRT1220600	hsa-miR-144	CLIP-seq
MIRT1220601	hsa-miR-2355-5p	CLIP-seq
MIRT1220602	hsa-miR-24	CLIP-seq
MIRT1220603	hsa-miR-323b-3p	CLIP-seq
MIRT1220604	hsa-miR-361-5p	CLIP-seq
MIRT1220605	hsa-miR-3679-3p	CLIP-seq
MIRT1220606	hsa-miR-4284	CLIP-seq
MIRT1220607	hsa-miR-4446-5p	CLIP-seq
MIRT1220608	hsa-miR-4452	CLIP-seq
MIRT1220609	hsa-miR-4474-3p	CLIP-seq
MIRT1220610	hsa-miR-4490	CLIP-seq
MIRT1220611	hsa-miR-4520a-3p	CLIP-seq
MIRT1220612	hsa-miR-4520b-3p	CLIP-seq
MIRT1220613	hsa-miR-4793-5p	CLIP-seq
MIRT1220614	hsa-miR-890	CLIP-seq
MIRT1220615	hsa-miR-1184	CLIP-seq
MIRT1220616	hsa-miR-1257	CLIP-seq
MIRT1220617	hsa-miR-1275	CLIP-seq
MIRT1220618	hsa-miR-1301	CLIP-seq
MIRT1220619	hsa-miR-145	CLIP-seq
MIRT1220620	hsa-miR-148a	CLIP-seq
MIRT1220621	hsa-miR-148b	CLIP-seq
MIRT1220622	hsa-miR-152	CLIP-seq
MIRT1220623	hsa-miR-15a	CLIP-seq
MIRT1220624	hsa-miR-15b	CLIP-seq
MIRT1220625	hsa-miR-16	CLIP-seq
MIRT1220626	hsa-miR-195	CLIP-seq
MIRT1220627	hsa-miR-223	CLIP-seq
MIRT1220601	hsa-miR-2355-5p	CLIP-seq
MIRT1220628	hsa-miR-2467-5p	CLIP-seq
MIRT1220629	hsa-miR-3065-5p	CLIP-seq
MIRT1220630	hsa-miR-3180-5p	CLIP-seq
MIRT1220631	hsa-miR-320a	CLIP-seq
MIRT1220632	hsa-miR-320b	CLIP-seq
MIRT1220633	hsa-miR-320c	CLIP-seq
MIRT1220634	hsa-miR-320d	CLIP-seq
MIRT1220635	hsa-miR-323-3p	CLIP-seq
MIRT1220636	hsa-miR-3668	CLIP-seq
MIRT1220637	hsa-miR-375	CLIP-seq
MIRT1220638	hsa-miR-3944-5p	CLIP-seq
MIRT1220639	hsa-miR-3974	CLIP-seq
MIRT1220640	hsa-miR-410	CLIP-seq
MIRT1220641	hsa-miR-421	CLIP-seq
MIRT1220642	hsa-miR-424	CLIP-seq
MIRT1220643	hsa-miR-4273	CLIP-seq
MIRT1220644	hsa-miR-4307	CLIP-seq
MIRT1220645	hsa-miR-4328	CLIP-seq
MIRT1220646	hsa-miR-4420	CLIP-seq
MIRT1220647	hsa-miR-4429	CLIP-seq
MIRT1220648	hsa-miR-4446-3p	CLIP-seq
MIRT1220649	hsa-miR-4448	CLIP-seq
MIRT1220650	hsa-miR-4459	CLIP-seq
MIRT1220651	hsa-miR-4525	CLIP-seq
MIRT1220652	hsa-miR-4660	CLIP-seq
MIRT1220653	hsa-miR-4665-5p	CLIP-seq
MIRT1220654	hsa-miR-4668-3p	CLIP-seq
MIRT1220655	hsa-miR-4677-5p	CLIP-seq
MIRT1220656	hsa-miR-4695-5p	CLIP-seq
MIRT1220657	hsa-miR-4697-3p	CLIP-seq
MIRT1220658	hsa-miR-4698	CLIP-seq
MIRT1220659	hsa-miR-4723-5p	CLIP-seq
MIRT1220660	hsa-miR-4724-5p	CLIP-seq
MIRT1220661	hsa-miR-4732-5p	CLIP-seq
MIRT1220662	hsa-miR-4761-5p	CLIP-seq
MIRT1220663	hsa-miR-485-3p	CLIP-seq
MIRT1220664	hsa-miR-495	CLIP-seq
MIRT1220665	hsa-miR-496	CLIP-seq
MIRT1220666	hsa-miR-497	CLIP-seq
MIRT1220667	hsa-miR-5047	CLIP-seq
MIRT1220668	hsa-miR-513a-3p	CLIP-seq
MIRT1220669	hsa-miR-548v	CLIP-seq
MIRT1220670	hsa-miR-582-5p	CLIP-seq
MIRT1220671	hsa-miR-625	CLIP-seq
MIRT1220672	hsa-miR-665	CLIP-seq
MIRT1220673	hsa-miR-944	CLIP-seq
MIRT1220644	hsa-miR-4307	CLIP-seq
MIRT2063667	hsa-miR-4635	CLIP-seq
MIRT2063668	hsa-miR-4753-3p	CLIP-seq
MIRT2063669	hsa-miR-513c	CLIP-seq
MIRT2063670	hsa-miR-514b-5p	CLIP-seq
MIRT2063671	hsa-miR-526b	CLIP-seq
MIRT2063672	hsa-miR-548c-3p	CLIP-seq
MIRT2063673	hsa-miR-578	CLIP-seq
MIRT1220599	hsa-miR-101	CLIP-seq
MIRT1220600	hsa-miR-144	CLIP-seq
MIRT2292129	hsa-miR-1470	CLIP-seq
MIRT1220629	hsa-miR-3065-5p	CLIP-seq
MIRT2292130	hsa-miR-4496	CLIP-seq
MIRT2292131	hsa-miR-4782-5p	CLIP-seq
MIRT1220664	hsa-miR-495	CLIP-seq
MIRT2292132	hsa-miR-507	CLIP-seq
MIRT2292133	hsa-miR-545	CLIP-seq
MIRT2292134	hsa-miR-548p	CLIP-seq
MIRT2292135	hsa-miR-557	CLIP-seq
MIRT2292136	hsa-miR-562	CLIP-seq
MIRT2292137	hsa-miR-607	CLIP-seq
MIRT1220670	hsa-miR-582-5p	CLIP-seq
MIRT2456102	hsa-miR-323b-5p	CLIP-seq
MIRT2456103	hsa-miR-3942-3p	CLIP-seq
MIRT2456104	hsa-miR-4257	CLIP-seq
MIRT2456105	hsa-miR-4305	CLIP-seq
MIRT2456106	hsa-miR-4330	CLIP-seq
MIRT2456107	hsa-miR-4724-3p	CLIP-seq
MIRT2589793	hsa-miR-1224-3p	CLIP-seq
MIRT2589794	hsa-miR-1236	CLIP-seq
MIRT2589795	hsa-miR-1254	CLIP-seq
MIRT2589796	hsa-miR-1265	CLIP-seq
MIRT2589797	hsa-miR-1278	CLIP-seq
MIRT2589798	hsa-miR-1285	CLIP-seq
MIRT2589799	hsa-miR-141	CLIP-seq
MIRT1220619	hsa-miR-145	CLIP-seq
MIRT2589800	hsa-miR-200a	CLIP-seq
MIRT2589801	hsa-miR-203	CLIP-seq
MIRT2589802	hsa-miR-2053	CLIP-seq
MIRT2589803	hsa-miR-2054	CLIP-seq
MIRT1220601	hsa-miR-2355-5p	CLIP-seq
MIRT1220628	hsa-miR-2467-5p	CLIP-seq
MIRT2589804	hsa-miR-2909	CLIP-seq
MIRT2589805	hsa-miR-2964a-5p	CLIP-seq
MIRT2589806	hsa-miR-299-5p	CLIP-seq
MIRT2589807	hsa-miR-3064-5p	CLIP-seq
MIRT2589808	hsa-miR-3074-5p	CLIP-seq
MIRT2589809	hsa-miR-3116	CLIP-seq
MIRT2589810	hsa-miR-3121-3p	CLIP-seq
MIRT2589811	hsa-miR-3121-5p	CLIP-seq
MIRT2589812	hsa-miR-3127-3p	CLIP-seq
MIRT2589813	hsa-miR-3144-5p	CLIP-seq
MIRT2589814	hsa-miR-3152-5p	CLIP-seq
MIRT2589815	hsa-miR-3159	CLIP-seq
MIRT1220630	hsa-miR-3180-5p	CLIP-seq
MIRT2589816	hsa-miR-3187-3p	CLIP-seq
MIRT2589817	hsa-miR-3187-5p	CLIP-seq
MIRT2589818	hsa-miR-3190	CLIP-seq
MIRT2589819	hsa-miR-3191	CLIP-seq
MIRT2589820	hsa-miR-3192	CLIP-seq
MIRT2589821	hsa-miR-3198	CLIP-seq
MIRT2589822	hsa-miR-330-3p	CLIP-seq
MIRT2589823	hsa-miR-340	CLIP-seq
MIRT2589824	hsa-miR-3605-5p	CLIP-seq
MIRT2589825	hsa-miR-3647-3p	CLIP-seq
MIRT2589826	hsa-miR-3657	CLIP-seq
MIRT2589827	hsa-miR-3681	CLIP-seq
MIRT2589828	hsa-miR-3689a-3p	CLIP-seq
MIRT2589829	hsa-miR-3689c	CLIP-seq
MIRT2589830	hsa-miR-370	CLIP-seq
MIRT2589831	hsa-miR-377	CLIP-seq
MIRT2589832	hsa-miR-380	CLIP-seq
MIRT2589833	hsa-miR-3913-3p	CLIP-seq
MIRT2589834	hsa-miR-4278	CLIP-seq
MIRT2589835	hsa-miR-4291	CLIP-seq
MIRT2456105	hsa-miR-4305	CLIP-seq
MIRT1220644	hsa-miR-4307	CLIP-seq
MIRT2589836	hsa-miR-4309	CLIP-seq
MIRT2589837	hsa-miR-4310	CLIP-seq
MIRT1220648	hsa-miR-4446-3p	CLIP-seq
MIRT1220649	hsa-miR-4448	CLIP-seq
MIRT1220650	hsa-miR-4459	CLIP-seq
MIRT2589838	hsa-miR-4460	CLIP-seq
MIRT2589839	hsa-miR-4477b	CLIP-seq
MIRT2589840	hsa-miR-4492	CLIP-seq
MIRT2589841	hsa-miR-4495	CLIP-seq
MIRT2292130	hsa-miR-4496	CLIP-seq
MIRT2589842	hsa-miR-4498	CLIP-seq
MIRT2589843	hsa-miR-4505	CLIP-seq
MIRT2589844	hsa-miR-452	CLIP-seq
MIRT2589845	hsa-miR-4528	CLIP-seq
MIRT2589846	hsa-miR-4529-5p	CLIP-seq
MIRT2063667	hsa-miR-4635	CLIP-seq
MIRT2589847	hsa-miR-4639-3p	CLIP-seq
MIRT2589848	hsa-miR-4652-5p	CLIP-seq
MIRT2589849	hsa-miR-4659a-3p	CLIP-seq
MIRT2589850	hsa-miR-4659b-3p	CLIP-seq
MIRT2589851	hsa-miR-4676-3p	CLIP-seq
MIRT2589852	hsa-miR-4686	CLIP-seq
MIRT2589853	hsa-miR-4688	CLIP-seq
MIRT1220656	hsa-miR-4695-5p	CLIP-seq
MIRT2589854	hsa-miR-4699-5p	CLIP-seq
MIRT2589855	hsa-miR-4711-3p	CLIP-seq
MIRT2589856	hsa-miR-4714-5p	CLIP-seq
MIRT2456107	hsa-miR-4724-3p	CLIP-seq
MIRT2589857	hsa-miR-4727-3p	CLIP-seq
MIRT2589858	hsa-miR-4728-5p	CLIP-seq
MIRT2589859	hsa-miR-4738-3p	CLIP-seq
MIRT2589860	hsa-miR-4762-5p	CLIP-seq
MIRT2589861	hsa-miR-4766-5p	CLIP-seq
MIRT2589862	hsa-miR-4774-3p	CLIP-seq
MIRT2589863	hsa-miR-488	CLIP-seq
MIRT2589864	hsa-miR-489	CLIP-seq
MIRT2292133	hsa-miR-545	CLIP-seq
MIRT2589865	hsa-miR-548ae	CLIP-seq
MIRT2589866	hsa-miR-548aj	CLIP-seq
MIRT2589867	hsa-miR-548am	CLIP-seq
MIRT2292134	hsa-miR-548p	CLIP-seq
MIRT2589868	hsa-miR-548x	CLIP-seq
MIRT2292136	hsa-miR-562	CLIP-seq
MIRT2589869	hsa-miR-570	CLIP-seq
MIRT2589870	hsa-miR-579	CLIP-seq
MIRT2589871	hsa-miR-587	CLIP-seq
MIRT2589872	hsa-miR-590-3p	CLIP-seq
MIRT2589873	hsa-miR-606	CLIP-seq
MIRT2292137	hsa-miR-607	CLIP-seq
MIRT2589874	hsa-miR-612	CLIP-seq
MIRT2589875	hsa-miR-629	CLIP-seq
MIRT2589876	hsa-miR-642b	CLIP-seq
MIRT2589877	hsa-miR-651	CLIP-seq
MIRT2589878	hsa-miR-659	CLIP-seq
MIRT2589879	hsa-miR-661	CLIP-seq
MIRT1220672	hsa-miR-665	CLIP-seq
MIRT2589880	hsa-miR-7	CLIP-seq
MIRT2589881	hsa-miR-762	CLIP-seq
MIRT2589882	hsa-miR-885-5p	CLIP-seq
MIRT2589883	hsa-miR-888	CLIP-seq
MIRT1220614	hsa-miR-890	CLIP-seq
MIRT2589884	hsa-miR-892a	CLIP-seq
MIRT2589885	hsa-miR-935	CLIP-seq
MIRT1220673	hsa-miR-944	CLIP-seq
MIRT2589811	hsa-miR-3121-5p	CLIP-seq
MIRT2589831	hsa-miR-377	CLIP-seq
MIRT2456107	hsa-miR-4724-3p	CLIP-seq
MIRT2292133	hsa-miR-545	CLIP-seq
MIRT2292134	hsa-miR-548p	CLIP-seq
MIRT2687377	hsa-miR-103a	CLIP-seq
MIRT2687378	hsa-miR-105	CLIP-seq
MIRT2687379	hsa-miR-107	CLIP-seq
MIRT1220615	hsa-miR-1184	CLIP-seq
MIRT2687380	hsa-miR-1193	CLIP-seq
MIRT2589793	hsa-miR-1224-3p	CLIP-seq
MIRT2589794	hsa-miR-1236	CLIP-seq
MIRT2687381	hsa-miR-1238	CLIP-seq
MIRT2687382	hsa-miR-124	CLIP-seq
MIRT2589795	hsa-miR-1254	CLIP-seq
MIRT2589796	hsa-miR-1265	CLIP-seq
MIRT2589797	hsa-miR-1278	CLIP-seq
MIRT2589798	hsa-miR-1285	CLIP-seq
MIRT2687383	hsa-miR-1291	CLIP-seq
MIRT1220618	hsa-miR-1301	CLIP-seq
MIRT2589799	hsa-miR-141	CLIP-seq
MIRT1220600	hsa-miR-144	CLIP-seq
MIRT1220619	hsa-miR-145	CLIP-seq
MIRT2687384	hsa-miR-150	CLIP-seq
MIRT2687385	hsa-miR-19a	CLIP-seq
MIRT2687386	hsa-miR-19b	CLIP-seq
MIRT2589800	hsa-miR-200a	CLIP-seq
MIRT2589801	hsa-miR-203	CLIP-seq
MIRT2589802	hsa-miR-2053	CLIP-seq
MIRT2589803	hsa-miR-2054	CLIP-seq
MIRT1220601	hsa-miR-2355-5p	CLIP-seq
MIRT2687387	hsa-miR-2392	CLIP-seq
MIRT1220628	hsa-miR-2467-5p	CLIP-seq
MIRT2589804	hsa-miR-2909	CLIP-seq
MIRT2589805	hsa-miR-2964a-5p	CLIP-seq
MIRT2589806	hsa-miR-299-5p	CLIP-seq
MIRT2589807	hsa-miR-3064-5p	CLIP-seq
MIRT2589808	hsa-miR-3074-5p	CLIP-seq
MIRT2589809	hsa-miR-3116	CLIP-seq
MIRT2589810	hsa-miR-3121-3p	CLIP-seq
MIRT2589811	hsa-miR-3121-5p	CLIP-seq
MIRT2589812	hsa-miR-3127-3p	CLIP-seq
MIRT2589813	hsa-miR-3144-5p	CLIP-seq
MIRT2589814	hsa-miR-3152-5p	CLIP-seq
MIRT2687388	hsa-miR-3156-3p	CLIP-seq
MIRT2589815	hsa-miR-3159	CLIP-seq
MIRT2687389	hsa-miR-3173-5p	CLIP-seq
MIRT1220630	hsa-miR-3180-5p	CLIP-seq
MIRT2589816	hsa-miR-3187-3p	CLIP-seq
MIRT2589817	hsa-miR-3187-5p	CLIP-seq
MIRT2589818	hsa-miR-3190	CLIP-seq
MIRT2589819	hsa-miR-3191	CLIP-seq
MIRT2589820	hsa-miR-3192	CLIP-seq
MIRT2687390	hsa-miR-3194-3p	CLIP-seq
MIRT2589821	hsa-miR-3198	CLIP-seq
MIRT2687391	hsa-miR-3200-3p	CLIP-seq
MIRT2589823	hsa-miR-340	CLIP-seq
MIRT2589824	hsa-miR-3605-5p	CLIP-seq
MIRT2589825	hsa-miR-3647-3p	CLIP-seq
MIRT2687392	hsa-miR-3649	CLIP-seq
MIRT2589826	hsa-miR-3657	CLIP-seq
MIRT2687393	hsa-miR-3664-5p	CLIP-seq
MIRT2687394	hsa-miR-3671	CLIP-seq
MIRT2589827	hsa-miR-3681	CLIP-seq
MIRT2589828	hsa-miR-3689a-3p	CLIP-seq
MIRT2589829	hsa-miR-3689c	CLIP-seq
MIRT2687395	hsa-miR-3689d	CLIP-seq
MIRT2589830	hsa-miR-370	CLIP-seq
MIRT2687396	hsa-miR-3714	CLIP-seq
MIRT2589831	hsa-miR-377	CLIP-seq
MIRT2589832	hsa-miR-380	CLIP-seq
MIRT2687397	hsa-miR-3908	CLIP-seq
MIRT2687398	hsa-miR-3910	CLIP-seq
MIRT2589833	hsa-miR-3913-3p	CLIP-seq
MIRT2687399	hsa-miR-3925-3p	CLIP-seq
MIRT2687400	hsa-miR-3942-5p	CLIP-seq
MIRT2687401	hsa-miR-3977	CLIP-seq
MIRT2687402	hsa-miR-409-5p	CLIP-seq
MIRT2687403	hsa-miR-423-3p	CLIP-seq
MIRT2589834	hsa-miR-4278	CLIP-seq
MIRT2589835	hsa-miR-4291	CLIP-seq
MIRT2687404	hsa-miR-4292	CLIP-seq
MIRT2687405	hsa-miR-4301	CLIP-seq
MIRT2456105	hsa-miR-4305	CLIP-seq
MIRT1220644	hsa-miR-4307	CLIP-seq
MIRT2589836	hsa-miR-4309	CLIP-seq
MIRT2589837	hsa-miR-4310	CLIP-seq
MIRT1220645	hsa-miR-4328	CLIP-seq
MIRT1220648	hsa-miR-4446-3p	CLIP-seq
MIRT1220649	hsa-miR-4448	CLIP-seq
MIRT1220650	hsa-miR-4459	CLIP-seq
MIRT2589838	hsa-miR-4460	CLIP-seq
MIRT2589839	hsa-miR-4477b	CLIP-seq
MIRT2589840	hsa-miR-4492	CLIP-seq
MIRT2589841	hsa-miR-4495	CLIP-seq
MIRT2292130	hsa-miR-4496	CLIP-seq
MIRT2589842	hsa-miR-4498	CLIP-seq
MIRT2687406	hsa-miR-4499	CLIP-seq
MIRT2589843	hsa-miR-4505	CLIP-seq
MIRT2589844	hsa-miR-452	CLIP-seq
MIRT2589845	hsa-miR-4528	CLIP-seq
MIRT2589846	hsa-miR-4529-5p	CLIP-seq
MIRT2063667	hsa-miR-4635	CLIP-seq
MIRT2589847	hsa-miR-4639-3p	CLIP-seq
MIRT2687407	hsa-miR-4645-5p	CLIP-seq
MIRT2589848	hsa-miR-4652-5p	CLIP-seq
MIRT1220652	hsa-miR-4660	CLIP-seq
MIRT2687408	hsa-miR-4673	CLIP-seq
MIRT2589851	hsa-miR-4676-3p	CLIP-seq
MIRT2589852	hsa-miR-4686	CLIP-seq
MIRT2589853	hsa-miR-4688	CLIP-seq
MIRT1220656	hsa-miR-4695-5p	CLIP-seq
MIRT2589854	hsa-miR-4699-5p	CLIP-seq
MIRT2687409	hsa-miR-4703-5p	CLIP-seq
MIRT2589855	hsa-miR-4711-3p	CLIP-seq
MIRT2687410	hsa-miR-4713-5p	CLIP-seq
MIRT2589856	hsa-miR-4714-5p	CLIP-seq
MIRT2456107	hsa-miR-4724-3p	CLIP-seq
MIRT2589857	hsa-miR-4727-3p	CLIP-seq
MIRT2589858	hsa-miR-4728-5p	CLIP-seq
MIRT2687411	hsa-miR-4734	CLIP-seq
MIRT2589859	hsa-miR-4738-3p	CLIP-seq
MIRT2063668	hsa-miR-4753-3p	CLIP-seq
MIRT1220662	hsa-miR-4761-5p	CLIP-seq
MIRT2589860	hsa-miR-4762-5p	CLIP-seq
MIRT2687412	hsa-miR-4766-3p	CLIP-seq
MIRT2589861	hsa-miR-4766-5p	CLIP-seq
MIRT2687413	hsa-miR-4768-5p	CLIP-seq
MIRT2589862	hsa-miR-4774-3p	CLIP-seq
MIRT2687414	hsa-miR-4802-3p	CLIP-seq
MIRT2687415	hsa-miR-4802-5p	CLIP-seq
MIRT2589864	hsa-miR-489	CLIP-seq
MIRT1220667	hsa-miR-5047	CLIP-seq
MIRT2687416	hsa-miR-506	CLIP-seq
MIRT2687417	hsa-miR-515-5p	CLIP-seq
MIRT2687418	hsa-miR-532-3p	CLIP-seq
MIRT2687419	hsa-miR-532-5p	CLIP-seq
MIRT2292133	hsa-miR-545	CLIP-seq
MIRT2687420	hsa-miR-548a-3p	CLIP-seq
MIRT2589865	hsa-miR-548ae	CLIP-seq
MIRT2589866	hsa-miR-548aj	CLIP-seq
MIRT2589867	hsa-miR-548am	CLIP-seq
MIRT2687421	hsa-miR-548e	CLIP-seq
MIRT2687422	hsa-miR-548f	CLIP-seq
MIRT2292134	hsa-miR-548p	CLIP-seq
MIRT2687423	hsa-miR-548u	CLIP-seq
MIRT2589868	hsa-miR-548x	CLIP-seq
MIRT2687424	hsa-miR-561	CLIP-seq
MIRT2292136	hsa-miR-562	CLIP-seq
MIRT2589869	hsa-miR-570	CLIP-seq
MIRT2589870	hsa-miR-579	CLIP-seq
MIRT2687425	hsa-miR-582-3p	CLIP-seq
MIRT2589871	hsa-miR-587	CLIP-seq
MIRT2589872	hsa-miR-590-3p	CLIP-seq
MIRT2687426	hsa-miR-591	CLIP-seq
MIRT2589873	hsa-miR-606	CLIP-seq
MIRT2292137	hsa-miR-607	CLIP-seq
MIRT2589874	hsa-miR-612	CLIP-seq
MIRT2687427	hsa-miR-624	CLIP-seq
MIRT2589875	hsa-miR-629	CLIP-seq
MIRT2687428	hsa-miR-630	CLIP-seq
MIRT2589876	hsa-miR-642b	CLIP-seq
MIRT2589877	hsa-miR-651	CLIP-seq
MIRT2589878	hsa-miR-659	CLIP-seq
MIRT2589879	hsa-miR-661	CLIP-seq
MIRT1220672	hsa-miR-665	CLIP-seq
MIRT2589880	hsa-miR-7	CLIP-seq
MIRT2687429	hsa-miR-760	CLIP-seq
MIRT2589881	hsa-miR-762	CLIP-seq
MIRT2687430	hsa-miR-766	CLIP-seq
MIRT2589882	hsa-miR-885-5p	CLIP-seq
MIRT2589883	hsa-miR-888	CLIP-seq
MIRT1220614	hsa-miR-890	CLIP-seq
MIRT2589884	hsa-miR-892a	CLIP-seq
MIRT2589885	hsa-miR-935	CLIP-seq
MIRT1220673	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	ISS	16213210
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	NAS	10913353
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IBA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IDA	9371713, 12121997, 17404263, 20819076
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IGI	8413254
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	ISS
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	TAS	9371713
GO:0005246	Function	Calcium channel regulator activity	ISS	16213210
GO:0005515	Function	Protein binding	IPI	17620599, 19955404, 20664520, 24705354, 25416956, 32296183, 32814053, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA	9371713
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	ISS
GO:0005929	Component	Cilium	IDA
GO:0006198	Process	CAMP catabolic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0010460	Process	Positive regulation of heart rate	ISS
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	16213210
GO:0016020	Component	Membrane	IDA	9371713
GO:0016020	Component	Membrane	IDA	9371713
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019899	Function	Enzyme binding	ISS	22975349
GO:0030545	Function	Signaling receptor regulator activity	ISS
GO:0030552	Function	CAMP binding	IDA	9371713, 15938621, 20819076
GO:0031698	Function	Beta-2 adrenergic receptor binding	ISS
GO:0031965	Component	Nuclear membrane	IDA
GO:0032729	Process	Positive regulation of type II interferon production	IMP	17404263
GO:0032743	Process	Positive regulation of interleukin-2 production	IMP	17404263
GO:0032754	Process	Positive regulation of interleukin-5 production	IMP	17404263
GO:0034704	Component	Calcium channel complex	IDA	16213210
GO:0044325	Function	Transmembrane transporter binding	IPI	16213210
GO:0045822	Process	Negative regulation of heart contraction	ISS	21903937
GO:0046872	Function	Metal ion binding	IEA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IBA
GO:0050852	Process	T cell receptor signaling pathway	IMP	17404263
GO:0051117	Function	ATPase binding	IPI	21903937
GO:0061028	Process	Establishment of endothelial barrier	ISS
GO:0071320	Process	Cellular response to cAMP	IDA	12121997
GO:0071872	Process	Cellular response to epinephrine stimulus	IDA	12121997
GO:0071875	Process	Adrenergic receptor signaling pathway	ISS
GO:0086004	Process	Regulation of cardiac muscle cell contraction	ISS	21903937
GO:0097110	Function	Scaffold protein binding	IPI	15182229, 20819076
GO:0106072	Process	Negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	20819076
GO:0106072	Process	Negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	19252089
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IBA
GO:1901363	Function	Heterocyclic compound binding	IPI	9371713
GO:1901844	Process	Regulation of cell communication by electrical coupling involved in cardiac conduction	IMP	16213210
GO:1901898	Process	Negative regulation of relaxation of cardiac muscle	ISS
GO:1902514	Process	Regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS

Other IDs

• MIM: 600129
• HGNC: 8783
• e!Ensembl: ENSG00000113448

Protein

• UniProt ID: Q08499
• Protein name: 3',5'-cyclic-AMP phosphodiesterase 4D (EC 3.1.4.53) (DPDE3) (PDE43) (cAMP-specific phosphodiesterase 4D)
• Protein function: Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.
• PDB: 1E9K, 1MKD, 1OYN, 1PTW, 1Q9M, 1TB7, 1TBB, 1XOM, 1XON, 1XOQ, 1XOR, 1Y2B, 1Y2C, 1Y2D, 1Y2E, 1Y2K, 1ZKN, 2FM0, 2FM5, 2PW3, 2QYN, 3G4G, 3G4I, 3G4K, 3G4L, 3G58, 3IAD, 3IAK, 3K4S, 3SL3, 3SL4, 3SL5, 3SL6, 3SL8, 3V9B, 4OGB, 4W1O, 4WCU, 5K1I, 5K32, 5LBO, 5TKB, 5WH5, 5WH6, 5WQA, 6AKR, 6BOJ, 6F6U, 6F8R, 6F8T, 6F8U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18100	PDE4_UCR	223 → 339	Phosphodiesterase 4 upstream conserved regions (UCR)	Domain
  PF00233	PDEase_I	461 → 702		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in colonic epithelial cells (at protein level). Widespread; most abundant in skeletal muscle. {ECO:0000269|PubMed:12834813, ECO:0000269|PubMed:17244609}.; TISSUE SPECIFICITY: [Isoform 6]: Detected in brain. {ECO:0000269|PubMe
• Sequence:

  MEAEGSSAPARAGSGEGSDSAGGATLKAPKHLWRHEQHHQYPLRQPQFRLLHPHHHLPPP
  PPPSPQPQPQCPLQPPPPPPLPPPPPPPGAARGRYASSGATGRVRHRGYSDTERYLYCRA
  MDRTSYAVETGHRPGLKKSRMSWPSSFQGLRRFDVDNGTSAGRSPLDPMTSPGSGLILQA
  NFVHSQRRESFLYRSDSDYDLSPKSMSRNSSIASDIHGDDLIVTPFAQVLASLRTVRNNF
  AALTNLQDRAPSKRSPMCNQPSINKATITEEAYQKLASETLEELDWCLDQLETLQTRHSV
  SEMASNKFKRMLNRELTHLSEMSRSGNQVSEFISNTFLDKQHEVEIPSPTQKEKEKKKRP
  MSQISGVKKLMHSSSLTNSSIPRFGVKTEQEDVLAKELEDVNKWGLHVFRIAELSGNRPL
  TVIMHTIFQERDLLKTFKIPVDTLITYLMTLEDHYHADVAYHNNIHAADVVQSTHVLLST
  PALEAVFTDLEILAAIFASAIHDVDHPGVSNQFLINTNSELALMYNDSSVLENHHLAVGF
  KLLQEENCDIFQNLTKKQRQSLRKMVIDIVLATDMSKHMNLLADLKTMVETKKVTSSGVL
  LLDNYSDRIQVLQNMVHCADLSNPTKPLQLYRQWTDRIMEEFFRQGDRERERGMEISPMC
  DKHNASVEKSQVGFIDYIVHPLWETWADLVHPDAQDILDTLEDNREWYQSTIPQSPSPAP
  DDPEEGRQGQTEKFQFELTLEEDGESDTEKDSGSQVEEDTSCSDSKTLCTQDSESTEIPL
  DEQVEEEAVGEEEESQPEACVIDDRSPDT

• Sequence length: 809

Pathways

KEGG:

Purine metabolism
Metabolic pathways
cAMP signaling pathway
Parathyroid hormone synthesis, secretion and action
Morphine addiction

Reactome:

DARPP-32 events
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
Acrodysostosis 2 with or without hormone resistance	Pathogenic; Likely pathogenic	rs397514465, rs587777188, rs2530962740, rs2479492253, rs397514464, rs397514466, rs397514467, rs397514468, rs387906744, rs397514469, rs397515433, rs1751144333, rs1743358464	RCV000087310 RCV000087311 RCV004790402 RCV003153219 RCV000022935 RCV000022936 RCV000022937 RCV000022938 RCV000022939 RCV000022940 RCV000022941 RCV000033154 RCV001262446 RCV001270704	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acrodysostosis	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	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
CHROMOSOME 5Q12 DELETION SYNDROME	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METACHRONOUS COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	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 CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDE4D-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyloric stenosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrodysostosis	Acrodysostosis	BEFREE	22464250, 22464252, 23033274, 23043190, 24203977, 25044890, 25064455, 25075981, 26763073, 27109785, 28515031, 29016851, 29280743, 30006632, 31520578		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis	Acrodysostosis	ORPHANET_DG	22464250, 22464252		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis	Acrodysostosis	Pubtator	22464250, 22464252, 25075981, 26763073, 28515031, 30006632, 31041856, 32783359, 33858404	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis	Acrodysostosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis	Acrodysostosis	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis	Acrodysostosis	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE	Acrodysostosis With Or Without Hormone Resistance	GENOMICS_ENGLAND_DG	23033274		★☆☆☆☆ Found in Text Mining only
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE	Acrodysostosis With Or Without Hormone Resistance	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE	ACRODYSOSTOSIS WITH OR WITHOUT HORMONE RESISTANCE	UNIPROT_DG	22464250, 22464252, 23033274, 23043190		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE	ACRODYSOSTOSIS WITH OR WITHOUT HORMONE RESISTANCE	BEFREE	29016851		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE	ACRODYSOSTOSIS WITH OR WITHOUT HORMONE RESISTANCE	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE	ACRODYSOSTOSIS WITH OR WITHOUT HORMONE RESISTANCE	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE	ACRODYSOSTOSIS WITH OR WITHOUT HORMONE RESISTANCE	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrodysostosis with multiple hormone resistance	Acrodysostosis With Multiple Hormone Resistance	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenocarcinoma	Adenocarcinoma	BEFREE	31772658		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29616096		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33157432	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31772658		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	28225001	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14517540, 15802632, 22045424, 23863764, 31408443		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	19426955, 20816195, 21150878, 22101762, 23181788, 23829686, 27058054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	19426955, 20698975, 21907864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	CTD_human_DG	19426955, 21611147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	19426955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	19426955, 21876611	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	26181301	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	14517540, 15802632, 22045424, 23863764, 31408443		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	14517540, 20540798, 22045424, 23863764, 24485247, 28225001	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17655870		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	26671126		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34289528	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	20308990		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37407249	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30482227		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	28515031	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	29016851		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly Type E	Brachydactyly	Pubtator	29499646	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly with hypertension	Brachydactyly-arterial hypertension syndrome	BEFREE	29280743		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	23535729, 25751625, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	29386221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	22362584, 27267999, 27859137	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	29633253	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30482227		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25122068		★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	16373644, 21989204		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34289528	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29783161		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	20540798	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	23778321		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	14517540, 16130105, 16595789, 16835261, 22045424, 23466835, 23799094, 23863764, 24090469, 24485247, 28225001, 31653176	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	16322495, 16835261		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	LHGDN	16322495		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11833004, 14517540, 15731479, 15811259, 15861005, 15882609, 16020760, 16166573, 16543535, 16675738, 16825591, 16835261, 16914755, 17122438, 17594329, 17630939, 17655870, 18158110, 18220751, 18694398, 18705898, 19196240, 19399275, 19417766, 19608201, 21677445, 21989204, 22771915, 23135027, 23778321, 23863764, 24090469, 26004910, 26671126, 26754989, 28225001, 28587358, 30416389		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	14517540, 15861005, 16130105, 16162858, 16166573, 16373644, 16914755, 17594329, 18398440		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	17655870, 26004910		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19424605		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	21931561		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	11839681		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17016624		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	17016624		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30800055		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23863764, 33157432	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30732858		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30662799, 30867802		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39202484	Associate	★☆☆☆☆ Found in Text Mining only
Congenital craniofacial dysostosis	Congenital craniofacial dysostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27815373, 29939224		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15861005, 23852788		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	15861005, 18157711, 23852788		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	15861005		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	38272484	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	22388798	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15861005, 23852788		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	12377395, 22487514, 23003922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	19300510	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	23003922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	BEFREE	31226136		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	24203977		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19399275		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19399275		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32041280	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27815373		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	37413951	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	31520578		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysostoses	BEFREE	29016851		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31226136		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	24926854	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23536305	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASCAT_DG	21642993		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22865593	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fragile X Syndrome	Fragile X Syndrome	BEFREE	29116166, 31013090		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24358143		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24358143	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24358143		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24358143	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23536305	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	38272484	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27815373, 29939224		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23536305	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16675738, 16825591		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	16675738, 16825591, 18398440		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34630853	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23863764, 29294383, 30732858		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22464250, 30006632	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24203977, 30006632		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	14517540, 15802632, 15811259, 15861005, 16020760, 16130105, 16162858, 16166573, 16373644, 16543535, 16675738, 16825591, 16835261, 16914755, 17594329, 18220751, 18398440, 19196240, 19246712, 19399275, 19409523, 19417766, 19608201, 19786079, 20182758, 20357438, 21677445, 21989204, 22045424, 22274584, 22771915, 22882844, 23135027, 23466835, 23799094, 24365247, 24485247, 26004910, 26345966, 26521189, 26782593, 27759001, 28191858, 28225001, 28562233, 28587358, 28760411, 29234926, 30416389, 31127075, 31303835, 31757599		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	23535729		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29386221		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	GWASDB_DG	21642993		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25122068		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16740699, 29662167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25149359, 27683107		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30202044		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30482227		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26639561, 29386221		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23536305, 28092671		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23536305	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	12377395, 22487514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	31138891, 31469783		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28092671		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	22464250		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37775746	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15811259, 15861005, 30713479		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	24142618		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	24142618	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23536305, 29386221		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23003922		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	17667963		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29616096		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	31469783		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	27267999, 29386221		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	30006632		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23536305	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31772658		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37427586	Stimulate	★☆☆☆☆ Found in Text Mining only
PDE4D haploinsufficiency syndrome	Haploinsufficiency Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Peripheral dysostosis	Peripheral Dysostosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25149359, 27683107		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16740699, 29662167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27683107	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	23033274, 26763073, 29678282		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	26763073, 29499646	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	26763073		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	26806620		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	26806620	Stimulate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	19300510	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	31138891		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24926854	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	26792343		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	37925496	Associate	★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	30900165		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26792343		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19251251, 31138891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19251251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19251251, 29142105	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	21926974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28455289		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	30006632		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29616096		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	GWASCAT_DG	25129146		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30202044		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	14517540, 16595789, 16835261, 19417766, 20540798, 23076369, 23799094, 23863764, 24090469, 28225001	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	30006632	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	30485936		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	30485936	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	32783359	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	29178884	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	17594329		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	22047792		★☆☆☆☆ Found in Text Mining only