PDE5A (phosphodiesterase 5A)

Gene

• Entrez ID: 8654
• Gene name: Phosphodiesterase 5A
• Gene symbol: PDE5A
• Synonyms (NCBI Gene): CGB-PDE, CN5A, PDE5
• Chromosome: 4
• Chromosome location: 4q26
• Summary: This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5`-GMP. It is involved in the regulation of intracellular concentrations

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017190	hsa-miR-335-5p	Microarray	18185580
MIRT529328	hsa-miR-548ac	PAR-CLIP	22012620
MIRT529327	hsa-miR-548bb-3p	PAR-CLIP	22012620
MIRT529326	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT529325	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT529324	hsa-miR-548z	PAR-CLIP	22012620
MIRT529323	hsa-miR-548aa	PAR-CLIP	22012620
MIRT529322	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT529321	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT529320	hsa-miR-5692a	PAR-CLIP	22012620
MIRT529319	hsa-miR-944	PAR-CLIP	22012620
MIRT529318	hsa-miR-570-3p	PAR-CLIP	22012620
MIRT529323	hsa-miR-548aa	PAR-CLIP	27292025
MIRT529328	hsa-miR-548ac	PAR-CLIP	27292025
MIRT529322	hsa-miR-548ap-3p	PAR-CLIP	27292025
MIRT529327	hsa-miR-548bb-3p	PAR-CLIP	27292025
MIRT529326	hsa-miR-548d-3p	PAR-CLIP	27292025
MIRT529325	hsa-miR-548h-3p	PAR-CLIP	27292025
MIRT529321	hsa-miR-548t-3p	PAR-CLIP	27292025
MIRT529324	hsa-miR-548z	PAR-CLIP	27292025
MIRT529320	hsa-miR-5692a	PAR-CLIP	27292025
MIRT529318	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT529319	hsa-miR-944	PAR-CLIP	27292025
MIRT529328	hsa-miR-548ac	PAR-CLIP	22012620
MIRT529327	hsa-miR-548bb-3p	PAR-CLIP	22012620
MIRT529326	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT529325	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT529324	hsa-miR-548z	PAR-CLIP	22012620
MIRT529323	hsa-miR-548aa	PAR-CLIP	22012620
MIRT529322	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT529321	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT529320	hsa-miR-5692a	PAR-CLIP	22012620
MIRT529319	hsa-miR-944	PAR-CLIP	22012620
MIRT529318	hsa-miR-570-3p	PAR-CLIP	22012620
MIRT1220685	hsa-miR-183	CLIP-seq
MIRT1220686	hsa-miR-2054	CLIP-seq
MIRT1220687	hsa-miR-3117-3p	CLIP-seq
MIRT1220688	hsa-miR-3163	CLIP-seq
MIRT1220689	hsa-miR-3169	CLIP-seq
MIRT1220690	hsa-miR-3613-3p	CLIP-seq
MIRT1220691	hsa-miR-371-5p	CLIP-seq
MIRT1220692	hsa-miR-371b-5p	CLIP-seq
MIRT1220693	hsa-miR-376a	CLIP-seq
MIRT1220694	hsa-miR-376b	CLIP-seq
MIRT1220695	hsa-miR-382	CLIP-seq
MIRT1220696	hsa-miR-3942-3p	CLIP-seq
MIRT1220697	hsa-miR-4470	CLIP-seq
MIRT1220698	hsa-miR-4668-3p	CLIP-seq
MIRT1220699	hsa-miR-4742-3p	CLIP-seq
MIRT1220700	hsa-miR-4753-3p	CLIP-seq
MIRT1220701	hsa-miR-4759	CLIP-seq
MIRT1220702	hsa-miR-4768-5p	CLIP-seq
MIRT1220703	hsa-miR-512-5p	CLIP-seq
MIRT1220704	hsa-miR-548g	CLIP-seq
MIRT1220705	hsa-miR-587	CLIP-seq
MIRT1220706	hsa-miR-1	CLIP-seq
MIRT1220707	hsa-miR-106a	CLIP-seq
MIRT1220708	hsa-miR-106b	CLIP-seq
MIRT1220709	hsa-miR-136	CLIP-seq
MIRT1220710	hsa-miR-17	CLIP-seq
MIRT1220711	hsa-miR-200b	CLIP-seq
MIRT1220712	hsa-miR-200c	CLIP-seq
MIRT1220713	hsa-miR-206	CLIP-seq
MIRT1220714	hsa-miR-20a	CLIP-seq
MIRT1220715	hsa-miR-20b	CLIP-seq
MIRT1220716	hsa-miR-3136-3p	CLIP-seq
MIRT1220717	hsa-miR-3164	CLIP-seq
MIRT1220718	hsa-miR-3545-5p	CLIP-seq
MIRT1220719	hsa-miR-3609	CLIP-seq
MIRT1220720	hsa-miR-3673	CLIP-seq
MIRT1220721	hsa-miR-374c	CLIP-seq
MIRT1220722	hsa-miR-3941	CLIP-seq
MIRT1220723	hsa-miR-4255	CLIP-seq
MIRT1220724	hsa-miR-4257	CLIP-seq
MIRT1220725	hsa-miR-4260	CLIP-seq
MIRT1220726	hsa-miR-429	CLIP-seq
MIRT1220727	hsa-miR-4326	CLIP-seq
MIRT1220728	hsa-miR-466	CLIP-seq
MIRT1220729	hsa-miR-4672	CLIP-seq
MIRT1220730	hsa-miR-4719	CLIP-seq
MIRT1220731	hsa-miR-4731-3p	CLIP-seq
MIRT1220732	hsa-miR-4790-3p	CLIP-seq
MIRT1220733	hsa-miR-4796-3p	CLIP-seq
MIRT1220734	hsa-miR-4801	CLIP-seq
MIRT1220735	hsa-miR-519d	CLIP-seq
MIRT1220736	hsa-miR-548ah	CLIP-seq
MIRT1220737	hsa-miR-613	CLIP-seq
MIRT1220738	hsa-miR-655	CLIP-seq
MIRT1220739	hsa-miR-93	CLIP-seq
MIRT1552152	hsa-miR-199a-3p	CLIP-seq
MIRT1552153	hsa-miR-199b-3p	CLIP-seq
MIRT1552154	hsa-miR-3129-5p	CLIP-seq
MIRT1220717	hsa-miR-3164	CLIP-seq
MIRT1220724	hsa-miR-4257	CLIP-seq
MIRT1552155	hsa-miR-4277	CLIP-seq
MIRT1220730	hsa-miR-4719	CLIP-seq
MIRT1552156	hsa-miR-501-5p	CLIP-seq
MIRT1552157	hsa-miR-640	CLIP-seq
MIRT1552158	hsa-miR-653	CLIP-seq
MIRT1552159	hsa-miR-936	CLIP-seq
MIRT1220717	hsa-miR-3164	CLIP-seq
MIRT1220722	hsa-miR-3941	CLIP-seq
MIRT1220696	hsa-miR-3942-3p	CLIP-seq
MIRT2063674	hsa-miR-4276	CLIP-seq
MIRT2063675	hsa-miR-4302	CLIP-seq
MIRT1220728	hsa-miR-466	CLIP-seq
MIRT1220729	hsa-miR-4672	CLIP-seq
MIRT2063676	hsa-miR-4697-3p	CLIP-seq
MIRT1220730	hsa-miR-4719	CLIP-seq
MIRT1220731	hsa-miR-4731-3p	CLIP-seq
MIRT1220734	hsa-miR-4801	CLIP-seq
MIRT1220711	hsa-miR-200b	CLIP-seq
MIRT1220712	hsa-miR-200c	CLIP-seq
MIRT2292138	hsa-miR-28-3p	CLIP-seq
MIRT2292139	hsa-miR-4264	CLIP-seq
MIRT2063674	hsa-miR-4276	CLIP-seq
MIRT1220726	hsa-miR-429	CLIP-seq
MIRT1220729	hsa-miR-4672	CLIP-seq
MIRT2292140	hsa-miR-4789-3p	CLIP-seq
MIRT2292141	hsa-miR-4797-3p	CLIP-seq
MIRT2292142	hsa-miR-513a-3p	CLIP-seq
MIRT2292143	hsa-miR-642b	CLIP-seq
MIRT2292144	hsa-miR-3117-5p	CLIP-seq
MIRT1552155	hsa-miR-4277	CLIP-seq
MIRT2292145	hsa-miR-4422	CLIP-seq
MIRT1220697	hsa-miR-4470	CLIP-seq
MIRT2292146	hsa-miR-543	CLIP-seq
MIRT2392274	hsa-miR-3127-5p	CLIP-seq
MIRT2392275	hsa-miR-3170	CLIP-seq
MIRT2392276	hsa-miR-3189-3p	CLIP-seq
MIRT2392277	hsa-miR-3670	CLIP-seq
MIRT2392278	hsa-miR-4270	CLIP-seq
MIRT2392279	hsa-miR-4441	CLIP-seq
MIRT2392280	hsa-miR-4448	CLIP-seq
MIRT2392281	hsa-miR-4760-3p	CLIP-seq
MIRT2392282	hsa-miR-522	CLIP-seq
MIRT2392283	hsa-miR-570	CLIP-seq
MIRT2392284	hsa-miR-615-5p	CLIP-seq
MIRT2431954	hsa-miR-1284	CLIP-seq
MIRT2431955	hsa-miR-1305	CLIP-seq
MIRT2431956	hsa-miR-1324	CLIP-seq
MIRT2431957	hsa-miR-181a	CLIP-seq
MIRT2431958	hsa-miR-181b	CLIP-seq
MIRT2431959	hsa-miR-181c	CLIP-seq
MIRT2431960	hsa-miR-181d	CLIP-seq
MIRT2431961	hsa-miR-300	CLIP-seq
MIRT2292144	hsa-miR-3117-5p	CLIP-seq
MIRT2431962	hsa-miR-381	CLIP-seq
MIRT2431963	hsa-miR-4262	CLIP-seq
MIRT2063675	hsa-miR-4302	CLIP-seq
MIRT2431964	hsa-miR-4666-3p	CLIP-seq
MIRT2442457	hsa-miR-1271	CLIP-seq
MIRT2431954	hsa-miR-1284	CLIP-seq
MIRT2431956	hsa-miR-1324	CLIP-seq
MIRT2292144	hsa-miR-3117-5p	CLIP-seq
MIRT1220722	hsa-miR-3941	CLIP-seq
MIRT2063675	hsa-miR-4302	CLIP-seq
MIRT1220728	hsa-miR-466	CLIP-seq
MIRT1220729	hsa-miR-4672	CLIP-seq
MIRT1220730	hsa-miR-4719	CLIP-seq
MIRT1220731	hsa-miR-4731-3p	CLIP-seq
MIRT2292140	hsa-miR-4789-3p	CLIP-seq
MIRT1220734	hsa-miR-4801	CLIP-seq
MIRT2442458	hsa-miR-509-3p	CLIP-seq
MIRT2442459	hsa-miR-520d-5p	CLIP-seq
MIRT2442460	hsa-miR-524-5p	CLIP-seq
MIRT2442461	hsa-miR-564	CLIP-seq
MIRT2292143	hsa-miR-642b	CLIP-seq
MIRT2442462	hsa-miR-96	CLIP-seq
MIRT2442457	hsa-miR-1271	CLIP-seq
MIRT2589889	hsa-miR-1273f	CLIP-seq
MIRT2589890	hsa-miR-143	CLIP-seq
MIRT2431957	hsa-miR-181a	CLIP-seq
MIRT2431958	hsa-miR-181b	CLIP-seq
MIRT2431959	hsa-miR-181c	CLIP-seq
MIRT2431960	hsa-miR-181d	CLIP-seq
MIRT2589891	hsa-miR-3115	CLIP-seq
MIRT2589892	hsa-miR-3132	CLIP-seq
MIRT2589893	hsa-miR-3134	CLIP-seq
MIRT2589894	hsa-miR-342-3p	CLIP-seq
MIRT1220719	hsa-miR-3609	CLIP-seq
MIRT2589895	hsa-miR-3622a-3p	CLIP-seq
MIRT2589896	hsa-miR-3622b-3p	CLIP-seq
MIRT1220722	hsa-miR-3941	CLIP-seq
MIRT1220696	hsa-miR-3942-3p	CLIP-seq
MIRT2431963	hsa-miR-4262	CLIP-seq
MIRT2589897	hsa-miR-4522	CLIP-seq
MIRT2589898	hsa-miR-4534	CLIP-seq
MIRT1220728	hsa-miR-466	CLIP-seq
MIRT1220729	hsa-miR-4672	CLIP-seq
MIRT2589899	hsa-miR-4708-5p	CLIP-seq
MIRT2589900	hsa-miR-4711-5p	CLIP-seq
MIRT1220730	hsa-miR-4719	CLIP-seq
MIRT2589901	hsa-miR-4724-5p	CLIP-seq
MIRT1220731	hsa-miR-4731-3p	CLIP-seq
MIRT2589902	hsa-miR-4770	CLIP-seq
MIRT1220734	hsa-miR-4801	CLIP-seq
MIRT2589903	hsa-miR-4802-5p	CLIP-seq
MIRT2442458	hsa-miR-509-3p	CLIP-seq
MIRT2589904	hsa-miR-5096	CLIP-seq
MIRT2292146	hsa-miR-543	CLIP-seq
MIRT2589905	hsa-miR-548a-5p	CLIP-seq
MIRT2589906	hsa-miR-548ab	CLIP-seq
MIRT1220736	hsa-miR-548ah	CLIP-seq
MIRT2589907	hsa-miR-548ak	CLIP-seq
MIRT2589908	hsa-miR-548b-5p	CLIP-seq
MIRT2589909	hsa-miR-548c-5p	CLIP-seq
MIRT2589910	hsa-miR-548d-5p	CLIP-seq
MIRT2589911	hsa-miR-548h	CLIP-seq
MIRT2589912	hsa-miR-548i	CLIP-seq
MIRT2589913	hsa-miR-548j	CLIP-seq
MIRT2589914	hsa-miR-548w	CLIP-seq
MIRT2589915	hsa-miR-548y	CLIP-seq
MIRT2589916	hsa-miR-559	CLIP-seq
MIRT2442461	hsa-miR-564	CLIP-seq
MIRT2589917	hsa-miR-765	CLIP-seq
MIRT2442462	hsa-miR-96	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU3F2	Repression	21215707

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	NAS	9714779
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IBA
GO:0005515	Function	Protein binding	IPI	18757735, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030553	Function	CGMP binding	IEA
GO:0030553	Function	CGMP binding	TAS	15938621
GO:0046069	Process	CGMP catabolic process	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	IDA	14687666
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IEA
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IBA

Other IDs

• MIM: 603310
• HGNC: 8784
• e!Ensembl: ENSG00000138735

Protein

• UniProt ID: O76074
• Protein name: cGMP-specific 3',5'-cyclic phosphodiesterase (EC 3.1.4.35) (cGMP-binding cGMP-specific phosphodiesterase) (CGB-PDE)
• Protein function: Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP (PubMed:15489334, PubMed:9714779). Specifically regulates nitric-
• PDB: 1RKP, 1T9R, 1T9S, 1TBF, 1UDT, 1UDU, 1UHO, 1XOZ, 1XP0, 2CHM, 2H40, 2H42, 2H44, 2XSS, 3B2R, 3BJC, 3HC8, 3HDZ, 3JWQ, 3JWR, 3LFV, 3MF0, 3SHY, 3SHZ, 3SIE, 3TGE, 3TGG, 4G2W, 4G2Y, 4I9Z, 4IA0, 4MD6, 4OEW, 4OEX, 5JO3, 5ZZ2, 6ACB, 6IWI, 6L6E, 6VBI, 7FAQ, 7FAR, 8W4S, 8W4T, 8WKF, 8WKG, 8XWW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01590	GAF	164 → 314	GAF domain	Domain
  PF01590	GAF	346 → 503	GAF domain	Domain
  PF00233	PDEase_I	612 → 847		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in aortic smooth muscle cells, heart, placenta, skeletal muscle and pancreas and, to a much lesser extent, in brain, liver and lung.
• Sequence:

  MERAGPSFGQQRQQQQPQQQKQQQRDQDSVEAWLDDHWDFTFSYFVRKATREMVNAWFAE
  RVHTIPVCKEGIRGHTESCSCPLQQSPRADNSAPGTPTRKISASEFDRPLRPIVVKDSEG
  TVSFLSDSEKKEQMPLTPPRFDHDEGDQCSRLLELVKDISSHLDVTALCHKIFLHIHGLI
  SADRYSLFLVCEDSSNDKFLISRLFDVAEGSTLEEVSNNCIRLEWNKGIVGHVAALGEPL
  NIKDAYEDPRFNAEVDQITGYKTQSILCMPIKNHREEVVGVAQAINKKSGNGGTFTEKDE
  KDFAAYLAFCGIVLHNAQLYETSLLENKRNQVLLDLASLIFEEQQSLEVILKKIAATIIS
  FMQVQKCTIFIVDEDCSDSFSSVFHMECEELEKSSDTLTREHDANKINYMYAQYVKNTME
  PLNIPDVSKDKRFPWTTENTGNVNQQCIRSLLCTPIKNGKKNKVIGVCQLVNKMEENTGK
  VKPFNRNDEQFLEAFVIFCGLGIQNTQMYEAVERAMAKQMVTLEVLSYHASAAEEETREL
  QSLAAAVVPSAQTLKITDFSFSDFELSDLETALCTIRMFTDLNLVQNFQMKHEVLCRWIL
  SVKKNYRKNVAYHNWRHAFNTAQCMFAALKAGKIQNKLTDLEILALLIAALSHDLDHRGV
  NNSYIQRSEHPLAQLYCHSIMEHHHFDQCLMILNSPGNQILSGLSIEEYKTTLKIIKQAI
  LATDLALYIKRRGEFFELIRKNQFNLEDPHQKELFLAMLMTACDLSAITKPWPIQQRIAE
  LVATEFFDQGDRERKELNIEPTDLMNREKKNKIPSMQVGFIDAICLQLYEALTHVSEDCF
  PLLDGCRKNRQKWQALAEQQEKMLINGESGQAKRN

• Sequence length: 875

Pathways

KEGG:

Purine metabolism
Metabolic pathways
cGMP-PKG signaling pathway

Reactome:

cGMP effects

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	31433119		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	29101001		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	21987443		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29694963, 30911094		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24112792, 28337142		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	29438213, 31634463		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	30213732		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	31434939	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	31434939	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	23527037		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25733135, 30593704		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25733135, 30593704		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	19796053, 20555034, 26657792, 29089445, 30593704, 30901259, 30926520, 30958912, 31433119, 31646996		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21505183, 27616271, 31698786		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21505183	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17305584, 25244411		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29141888		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28728871, 29504984, 29534582		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19139381, 28009175		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	19139381		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	22135403	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	22135403	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18040025, 20413734, 25799991, 29375047, 29938618, 30675707		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	19751368, 30451062, 30542775, 31658364		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	25247292	Associate	★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	31797710		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31797710		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	24040016		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28123846, 28468928		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22556201, 23804703		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22556201, 26299804, 38179743	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22556201, 23804703, 30189250, 31103628		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22556201	Associate	★☆☆☆☆ Found in Text Mining only
Common ventricle	Complete Atrioventricular Canal Defect	BEFREE	30354365		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19139381, 20308615, 24837433, 29519873, 29664809, 31536807, 31651671		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	15618584, 20562123, 24204804, 28196856, 28533270		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23385031, 28540228, 30773497		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21297971	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23385031, 27995696, 28540228, 30290616, 30773497		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30773497		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26964730, 27995696, 28123046		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	27855624, 31311394		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28294194		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	29118812		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30257385		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	12437506, 15175637, 15476742, 15648556, 15970531, 16422964, 16888683, 16979814, 17305584, 18087639, 20562123, 20662742, 23486196, 23658196, 25303302, 26657792, 27101805, 27338710, 27509143, 27785815, 28139291, 28260869, 28316997, 28458371, 28515348, 28533270, 28540228, 28590829, 28686445, 28725593, 28776122, 28938916, 29057723, 29488328, 29491258, 29504984, 29519873, 29534582, 29667180, 29743519, 29888556, 30025857, 30290616, 30443968, 30542775, 30675707, 30696978, 30747070, 30770073, 30837720, 30874604, 30901259, 30978726, 31080776, 31117236, 31181491, 31302408, 31353618, 31512069, 31539416, 31555563		★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	16735511, 23916810, 31433119, 36401440, 38086555	Associate	★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	22578167	Inhibit	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15175637, 30940538		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	16980375	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	34981661	Associate	★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	BEFREE	27686568		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30213732		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25103559, 28099939, 37175205	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25103559, 28099939		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25103559		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25103559	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	20563733		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25564570		★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	25247292	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	24837433, 25799991, 30089721, 30354365		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19139381, 24837433, 29519873, 29664809, 31536807, 31651671		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	27427220	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	28587325		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	21987443		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29175000		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	30821858		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	23613014, 31319371		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	19694922		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	21297971		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	30821858		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	16735511, 18591337	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	16980375	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	22578167	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12466227, 17305584, 18040025, 26583148, 26821322, 28052870, 28587325, 28938916, 29256125, 29677206, 30025857, 30701543, 31053768, 31137981		★☆☆☆☆ Found in Text Mining only
Hypertrophy Right Ventricular	Right ventricular hypertrophy	Pubtator	18591337	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	28590829		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	14764637		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	17606845, 27495162, 27499522, 27941129, 28009175, 28533270, 28686445, 28776122, 28986358, 29501590, 29519873, 29665366, 29667180, 29738821, 29781586, 29920215, 30148362, 30701543, 30761523, 30946047, 31021628, 31351013, 31771203, 31798703, 31829087		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	16980375, 28603047		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	20563733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	24040016, 29175000, 29616790, 29847860		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	19139381		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31132399		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	20308615, 29519873		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23916810	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30414862		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15613622, 30344420		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25704960		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30701543		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25564570		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21505183, 27616271, 31698786		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29141888		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27179930, 30443968, 31433119		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28728871, 31774904		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28099939, 28468928, 29228762, 29301746, 29416006, 29872554, 31214178, 31651285		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28123846, 28468928		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21505183, 31698786		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	31434939	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23381931, 24710960, 27299522	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28515348, 28728871, 29504984, 29534582, 30350485		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29549244, 30773497		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28932631		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	25247292	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33087445	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28798156		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19139381, 22102597, 28123046, 28986358, 29519873		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22556201, 25704960, 25837309, 29118812, 30414862, 31214178, 31433119, 31698786		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	9893113		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28776122		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25247292	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27903966		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31248114		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28399643		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25837309		★☆☆☆☆ Found in Text Mining only
Peyronie Disease	Peyronie Disease	BEFREE	14996430		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	29101001		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	29391766, 30344420		★☆☆☆☆ Found in Text Mining only
Priapism	Priapism	BEFREE	19267844, 23844149, 29110178, 29145710, 31555563		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	30213732		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27179930, 30443968, 31433119		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	30593704		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	31433119	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28700469, 31433119	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	17606845, 28009175, 28533270, 28776122, 28986358, 29519873, 29667180, 30148362, 31829087		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	18591337	Associate	★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	BEFREE	27941129, 29781586		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	19139381, 29511676		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	27499522		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29512263		★☆☆☆☆ Found in Text Mining only
Sexual Dysfunction	Sexual Dysfunction	BEFREE	25460030, 30498760		★☆☆☆☆ Found in Text Mining only
Single Ventricle Defect	Single Ventricle Defect	BEFREE	30354365		★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	BEFREE	16980375		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28728871		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25320361, 25564570, 31214178		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	27499522, 31829087		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36217175	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29118812		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25837309		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	28566262		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30245400		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29519873		★☆☆☆☆ Found in Text Mining only