PDE10A (phosphodiesterase 10A)

Gene

• Entrez ID: 10846
• Gene name: Phosphodiesterase 10A
• Gene symbol: PDE10A
• Synonyms (NCBI Gene): ADSD2, HSPDE10A, IOLOD, LINC00473, PDE10A19
• Chromosome: 6
• Chromosome location: 6q27
• Summary: The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the co

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61733392	G>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs778899140	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs875989839	C>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs875989840	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs875989841	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs1332740547	G>A,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs1554258695	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1583275773	G>A	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT521992	hsa-miR-7151-5p	HITS-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	HITS-CLIP	21572407
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT509237	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT509236	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT521992	hsa-miR-7151-5p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT528903	hsa-miR-33a-3p	PAR-CLIP	22012620
MIRT528902	hsa-miR-5579-5p	PAR-CLIP	22012620
MIRT528901	hsa-miR-5681b	PAR-CLIP	22012620
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521992	hsa-miR-7151-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT738881	hsa-miR-3679-3p	HITS-CLIP	33718276
MIRT738883	hsa-miR-3665	HITS-CLIP	33718276
MIRT521992	hsa-miR-7151-5p	HITS-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	HITS-CLIP	21572407
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT509237	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT509236	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT521992	hsa-miR-7151-5p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509237	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT509236	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	21572407
MIRT528903	hsa-miR-33a-3p	PAR-CLIP	22012620
MIRT528902	hsa-miR-5579-5p	PAR-CLIP	22012620
MIRT528901	hsa-miR-5681b	PAR-CLIP	22012620
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521992	hsa-miR-7151-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509238	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509237	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT509236	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509235	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509234	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509233	hsa-miR-1287-3p	PAR-CLIP	23446348
MIRT1219885	hsa-miR-142-5p	CLIP-seq
MIRT1219886	hsa-miR-181a	CLIP-seq
MIRT1219887	hsa-miR-181b	CLIP-seq
MIRT1219888	hsa-miR-181c	CLIP-seq
MIRT1219889	hsa-miR-181d	CLIP-seq
MIRT739842	hsa-miR-2116	CLIP-seq
MIRT1219890	hsa-miR-217	CLIP-seq
MIRT1219891	hsa-miR-23a	CLIP-seq
MIRT1219892	hsa-miR-23b	CLIP-seq
MIRT1219893	hsa-miR-23c	CLIP-seq
MIRT1219894	hsa-miR-2467-3p	CLIP-seq
MIRT1219895	hsa-miR-297	CLIP-seq
MIRT1219896	hsa-miR-3121-5p	CLIP-seq
MIRT1219897	hsa-miR-3122	CLIP-seq
MIRT1219898	hsa-miR-3153	CLIP-seq
MIRT1219899	hsa-miR-3179	CLIP-seq
MIRT1219900	hsa-miR-3202	CLIP-seq
MIRT1219901	hsa-miR-342-5p	CLIP-seq
MIRT1219902	hsa-miR-3615	CLIP-seq
MIRT1219903	hsa-miR-3671	CLIP-seq
MIRT1219904	hsa-miR-3678-3p	CLIP-seq
MIRT1219905	hsa-miR-3913-5p	CLIP-seq
MIRT1219906	hsa-miR-3936	CLIP-seq
MIRT1219907	hsa-miR-4262	CLIP-seq
MIRT739844	hsa-miR-4273	CLIP-seq
MIRT739845	hsa-miR-4289	CLIP-seq
MIRT1219908	hsa-miR-4307	CLIP-seq
MIRT1219909	hsa-miR-4476	CLIP-seq
MIRT1219910	hsa-miR-452	CLIP-seq
MIRT1219911	hsa-miR-4664-5p	CLIP-seq
MIRT1219912	hsa-miR-4668-5p	CLIP-seq
MIRT1219913	hsa-miR-4676-3p	CLIP-seq
MIRT739843	hsa-miR-4677-5p	CLIP-seq
MIRT1219914	hsa-miR-4705	CLIP-seq
MIRT1219915	hsa-miR-4719	CLIP-seq
MIRT1219916	hsa-miR-4731-3p	CLIP-seq
MIRT1219917	hsa-miR-4738-3p	CLIP-seq
MIRT1219918	hsa-miR-4801	CLIP-seq
MIRT1219919	hsa-miR-485-3p	CLIP-seq
MIRT1219920	hsa-miR-496	CLIP-seq
MIRT1219921	hsa-miR-520d-5p	CLIP-seq
MIRT1219922	hsa-miR-524-5p	CLIP-seq
MIRT1219923	hsa-miR-543	CLIP-seq
MIRT739846	hsa-miR-548c-3p	CLIP-seq
MIRT1219924	hsa-miR-548g	CLIP-seq
MIRT1219925	hsa-miR-561	CLIP-seq
MIRT1219926	hsa-miR-567	CLIP-seq
MIRT738882	hsa-miR-657	CLIP-seq
MIRT738884	hsa-miR-764	CLIP-seq
MIRT738882	hsa-miR-657	CLIP-seq
MIRT738884	hsa-miR-764	CLIP-seq
MIRT2063578	hsa-miR-3646	CLIP-seq
MIRT2292063	hsa-miR-545	CLIP-seq
MIRT2292064	hsa-miR-2276	CLIP-seq
MIRT2292065	hsa-miR-3609	CLIP-seq
MIRT2292066	hsa-miR-3647-3p	CLIP-seq
MIRT2292067	hsa-miR-425	CLIP-seq
MIRT2292068	hsa-miR-4772-3p	CLIP-seq
MIRT2292069	hsa-miR-520g	CLIP-seq
MIRT2292070	hsa-miR-520h	CLIP-seq
MIRT2292071	hsa-miR-544	CLIP-seq
MIRT2292072	hsa-miR-548ah	CLIP-seq
MIRT2292073	hsa-miR-548v	CLIP-seq
MIRT2292074	hsa-miR-642b	CLIP-seq
MIRT2456057	hsa-miR-186	CLIP-seq
MIRT2456058	hsa-miR-3133	CLIP-seq
MIRT2456059	hsa-miR-4694-3p	CLIP-seq
MIRT2456060	hsa-miR-522	CLIP-seq
MIRT2589668	hsa-miR-1178	CLIP-seq
MIRT2589669	hsa-miR-1293	CLIP-seq
MIRT2589670	hsa-miR-3125	CLIP-seq
MIRT2589671	hsa-miR-323-5p	CLIP-seq
MIRT2589672	hsa-miR-3916	CLIP-seq
MIRT2589673	hsa-miR-4257	CLIP-seq
MIRT2589674	hsa-miR-4302	CLIP-seq
MIRT2589675	hsa-miR-4483	CLIP-seq
MIRT2589676	hsa-miR-4796-5p	CLIP-seq
MIRT2589677	hsa-miR-548a-3p	CLIP-seq
MIRT2589678	hsa-miR-548e	CLIP-seq
MIRT2589679	hsa-miR-548f	CLIP-seq
MIRT2589668	hsa-miR-1178	CLIP-seq
MIRT2589669	hsa-miR-1293	CLIP-seq
MIRT2589671	hsa-miR-323-5p	CLIP-seq
MIRT2589674	hsa-miR-4302	CLIP-seq
MIRT2589675	hsa-miR-4483	CLIP-seq
MIRT2589676	hsa-miR-4796-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004112	Function	Cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	TAS	10373451
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:0006198	Process	CAMP catabolic process	IEA
GO:0007165	Process	Signal transduction	IEA
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:0030552	Function	CAMP binding	IDA	19689430
GO:0030552	Function	CAMP binding	IEA
GO:0030552	Function	CAMP binding	NAS	15938621
GO:0030553	Function	CGMP binding	IEA
GO:0030553	Function	CGMP binding	NAS	15938621
GO:0045202	Component	Synapse	IEA
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	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0106070	Process	Regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0141161	Process	Regulation of cAMP/PKA signal transduction	IEA
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IBA

Other IDs

• MIM: 610652
• HGNC: 8772
• e!Ensembl: ENSG00000112541

Protein

• UniProt ID: Q9Y233
• Protein name: cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A (EC 3.1.4.17)
• Protein function: Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides (PubMed:10373451, PubMed:10393245, PubMed:16330539, PubMed:17389385, PubMed:27058447). Can hydrolyze both cAMP and cGMP, but has higher affin
• PDB: 2OUN, 2OUP, 2OUQ, 2OUR, 2OUS, 2OUU, 2OUV, 2OUY, 2WEY, 2Y0J, 2ZMF, 3SN7, 3SNI, 3SNL, 3UI7, 3UUO, 3WI2, 3WS8, 3WS9, 3WYK, 3WYL, 3WYM, 4AEL, 4AJD, 4AJF, 4AJG, 4AJM, 4BBX, 4DDL, 4DFF, 4FCB, 4FCD, 4HEU, 4HF4, 4LKQ, 4LLJ, 4LLK, 4LLP, 4LLX, 4LM0, 4LM1, 4LM2, 4LM3, 4LM4, 4MRW, 4MRZ, 4MS0, 4MSA, 4MSC, 4MSE, 4MSH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01590	GAF	91 → 235	GAF domain	Domain
  PF01590	GAF	266 → 412	GAF domain	Domain
  PF00233	PDEase_I	514 → 746		Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundant in the putamen and caudate nucleus regions of brain and testis, moderately expressed in the thyroid gland, pituitary gland, thalamus and cerebellum. {ECO:0000269|PubMed:10373451, ECO:0000269|PubMed:27058447}.
• Sequence:

  MRIEERKSQHLTGLTDEKVKAYLSLHPQVLDEFVSESVSAETVEKWLKRKNNKSEDESAP
  KEVSRYQDTNMQGVVYELNSYIEQRLDTGGDNQLLLYELSSIIKIATKADGFALYFLGEC
  NNSLCIFTPPGIKEGKPRLIPAGPITQGTTVSAYVAKSRKTLLVEDILGDERFPRGTGLE
  SGTRIQSVLCLPIVTAIGDLIGILELYRHWGKEAFCLSHQEVATANLAWASVAIHQVQVC
  RGLAKQTELNDFLLDVSKTYFDNIVAIDSLLEHIMIYAKNLVNADRCALFQVDHKNKELY
  SDLFDIGEEKEGKPVFKKTKEIRFSIEKGIAGQVARTGEVLNIPDAYADPRFNREVDLYT
  GYTTRNILCMPIVSRGSVIGVVQMVNKISGSAFSKTDENNFKMFAVFCALALHCANMYHR
  IRHSECIYRVTMEKLSYHSICTSEEWQGLMQFTLPVRLCKEIELFHFDIGPFENMWPGIF
  VYMVHRSCGTSCFELEKLCRFIMSVKKNYRRVPYHNWKHAVTVAHCMYAILQNNHTLFTD
  LERKGLLIACLCHDLDHRGFSNSYLQKFDHPLAALYSTSTMEQHHFSQTVSILQLEGHNI
  FSTLSSSEYEQVLEIIRKAIIATDLALYFGNRKQLEEMYQTGSLNLNNQSHRDRVIGLMM
  TACDLCSVTKLWPVTKLTANDIYAEFWAEGDEMKKLGIQPIPMMDRDKKDEVPQGQLGFY
  NAVAIPCYTTLTQILPPTEPLLKACRDNLSQWEKVIRGEETATWISSPSVAQKAAASED

• Sequence length: 779

Pathways

KEGG:

Purine metabolism
Metabolic pathways
cAMP signaling pathway
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
Generalized hypotonia	Likely pathogenic; Pathogenic	rs778899140	RCV001003963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs778899140	RCV001003963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile-onset generalized dyskinesia with orofacial involvement	Likely pathogenic; Pathogenic	rs2483700484, rs2533716846, rs778899140, rs875989839, rs1554258695, rs1332740547	RCV003156373 RCV003156374 RCV000210940 RCV000210942 RCV000625744 RCV000995600	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Striatal degeneration, autosomal dominant 2	Pathogenic; Likely pathogenic	rs875989840, rs875989841, rs1554258695	RCV000210938 RCV000210939 RCV000995599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET BENIGN CHOREA WITH STRIATAL INVOLVEMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET	—	CTD, GenCC, HPO CTD, GenCC, HPO CTD, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDE10A-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute schizophrenia	Schizophrenia	BEFREE	31688451		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	22832404		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	22832404		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30951862		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27404287	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27404287		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31315972		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	22205951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	22205951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22205951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	22205951, 23032945, 26905414	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	26905414, 28042091		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	23032945		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31081095, 31201066		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30848493	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31081095	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	23032945		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27939638	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	34120511	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29050202		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	36324187	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31801360		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	24421319		★☆☆☆☆ Found in Text Mining only
Childhood-onset benign chorea with striatal involvement	Benign Chorea With Striatal Involvement	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea	Chorea	Pubtator	36054588	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	29130591		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29115449, 30516998, 31315972		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30091414		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24704829, 26713600		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24704829	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	35810318	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24704829, 30126852		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26713600, 30126852, 35810318	Associate	★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	GWASCAT_DG	20585324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduct Disorder	Conduct Disorder	GWASDB_DG	20585324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	31801360		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32440655	Inhibit	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET	Dyskinesia, Limb And Orofacial	GENOMICS_ENGLAND_DG	27058446, 27058447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET	Dyskinesia, Limb And Orofacial	UNIPROT_DG	27058446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET	Dyskinesia, Limb And Orofacial	ORPHANET_DG	27058446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET	Dyskinesia, Limb And Orofacial	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET	Dyskinesia, Limb And Orofacial	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29086067, 29508924		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	28115486, 29086067		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	28439226		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32468021	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	28587571		★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	28304380		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31561732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	31894297	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart failure	Heart Failure	BEFREE	31801360		★☆☆☆☆ Found in Text Mining only
Hemiballismus	Hemiballismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	14751289, 15610167, 26198591, 27538642, 27856625, 28194132, 28322591, 28569061, 29175000, 30365550, 30409256, 30951862, 31822756		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	26198591	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	GWASCAT_DG	30367059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	BEFREE	21690246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	GWASCAT_DG	27182965, 30367059, 30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	29175000, 30091414		★☆☆☆☆ Found in Text Mining only
Infantile-onset generalized dyskinesia with orofacial involvement	Generalized Dyskinesia With Orofacial Involvement	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	24704829		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37433798	Associate	★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	23691025		★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29605299, 31562977		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29050202		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31081095, 32468021, 32495868, 33993193	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31081095, 31201066		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29050202		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31206665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30071345		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26713600, 31017716, 31561732		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28439226		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	27058446		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	29353885		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	35021948	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25979379, 27140397, 29159834, 29605299, 30126852, 31081095, 31201066, 31561732, 31562977		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	29159834		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23691025		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24372206, 28254508, 29521210		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	22521361		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27140397, 27939638, 29766673		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	22205951, 29318783, 29491258, 30951862, 31688451		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	22205951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	32440655	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33268698	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28942243		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28942243	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36324187	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31206665		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32495868	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24372206, 26210536, 28485668, 28975571, 29175000, 29508924, 31158314		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26210536	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25979379, 33450964	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32440687	Stimulate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	22205951, 29318783, 29491258, 30951862, 31688451		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	22205951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	22205951	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37466093	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31315972		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	34120511	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	19630403, 20934321, 21355834, 21650160, 24372206, 26421691, 27659554, 28042091, 28267149, 28322591, 28569061, 29318783, 29491258, 30091414, 30240986, 30664847, 31119377, 31205187, 31368871, 31404565, 31688451, 31689714, 31773211		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31017716		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30468475	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30468475		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30071345		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27270314	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33993193	Stimulate	★☆☆☆☆ Found in Text Mining only
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2	Striatal Degeneration	ORPHANET_DG	27058446, 27058447		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2	Striatal Degeneration	GENOMICS_ENGLAND_DG	27058446, 27058447		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2	Striatal Degeneration	UNIPROT_DG	27058447		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2	Striatal Degeneration	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2	Striatal Degeneration	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine Fibroids	Uterine Fibroids	BEFREE	28587571		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	29159834, 32149111	Associate	★☆☆☆☆ Found in Text Mining only