DUSP2 (dual specificity phosphatase 2)

Gene

• Entrez ID: 1844
• Gene name: Dual specificity phosphatase 2
• Gene symbol: DUSP2
• Synonyms (NCBI Gene): PAC-1, PAC1
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively re

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003094	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT007102	hsa-miR-29b-3p	Luciferase reporter assay	23478036
MIRT023093	hsa-miR-124-3p	Microarray	18668037
MIRT053023	hsa-miR-20a-5p	qRT-PCR, Western blot, Reporter assay	22648654
MIRT688420	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT688419	hsa-miR-605-5p	HITS-CLIP	23313552
MIRT688418	hsa-miR-6858-3p	HITS-CLIP	23313552
MIRT688417	hsa-miR-4676-5p	HITS-CLIP	23313552
MIRT688416	hsa-miR-575	HITS-CLIP	23313552
MIRT688415	hsa-miR-188-5p	HITS-CLIP	23313552
MIRT688414	hsa-miR-6866-3p	HITS-CLIP	23313552
MIRT688413	hsa-miR-4780	HITS-CLIP	23313552
MIRT688412	hsa-miR-6780b-3p	HITS-CLIP	23313552
MIRT688411	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT688410	hsa-miR-623	HITS-CLIP	23313552
MIRT494092	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT494091	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT494090	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT494089	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT494088	hsa-miR-302e	PAR-CLIP	22012620
MIRT494087	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT494086	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT494085	hsa-miR-520b	PAR-CLIP	22012620
MIRT494084	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT494083	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT494082	hsa-miR-520e	PAR-CLIP	22012620
MIRT494081	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT053023	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT494080	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT494079	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT494078	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT494077	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT494076	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT494075	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT494074	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT494073	hsa-miR-5590-3p	PAR-CLIP	22012620
MIRT494072	hsa-miR-142-5p	PAR-CLIP	22012620
MIRT494071	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT494070	hsa-miR-3609	PAR-CLIP	22012620
MIRT494069	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT494068	hsa-miR-4796-3p	PAR-CLIP	22012620
MIRT494067	hsa-miR-4742-3p	PAR-CLIP	22012620
MIRT494066	hsa-miR-3686	PAR-CLIP	22012620
MIRT494065	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT494064	hsa-miR-568	PAR-CLIP	22012620
MIRT494063	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT494092	hsa-miR-373-3p	PAR-CLIP	23592263
MIRT494091	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT494090	hsa-miR-302d-3p	PAR-CLIP	23592263
MIRT494089	hsa-miR-302a-3p	PAR-CLIP	23592263
MIRT494088	hsa-miR-302e	PAR-CLIP	23592263
MIRT494087	hsa-miR-372-3p	PAR-CLIP	23592263
MIRT494086	hsa-miR-520a-3p	PAR-CLIP	23592263
MIRT494085	hsa-miR-520b	PAR-CLIP	23592263
MIRT494084	hsa-miR-520c-3p	PAR-CLIP	23592263
MIRT494083	hsa-miR-520d-3p	PAR-CLIP	23592263
MIRT494082	hsa-miR-520e	PAR-CLIP	23592263
MIRT494081	hsa-miR-302b-3p	PAR-CLIP	23592263
MIRT053023	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT494080	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT494079	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT494078	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT494077	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT494076	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT494075	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT494074	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT494073	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT494072	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT494071	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT494070	hsa-miR-3609	PAR-CLIP	23592263
MIRT494069	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT494068	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT494067	hsa-miR-4742-3p	PAR-CLIP	23592263
MIRT494066	hsa-miR-3686	PAR-CLIP	23592263
MIRT494065	hsa-miR-4639-5p	PAR-CLIP	23592263
MIRT494064	hsa-miR-568	PAR-CLIP	23592263
MIRT494063	hsa-miR-6793-3p	PAR-CLIP	23592263
MIRT477925	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT007102	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT477924	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT477923	hsa-miR-634	PAR-CLIP	23592263
MIRT477922	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT477921	hsa-miR-6895-5p	PAR-CLIP	23592263
MIRT477920	hsa-miR-4733-3p	PAR-CLIP	23592263
MIRT477919	hsa-miR-922	PAR-CLIP	23592263
MIRT477918	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT477917	hsa-miR-1910-5p	PAR-CLIP	23592263
MIRT477916	hsa-miR-4530	PAR-CLIP	23592263
MIRT477915	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT477914	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT477913	hsa-miR-4264	PAR-CLIP	23592263
MIRT477912	hsa-miR-298	PAR-CLIP	23592263
MIRT477911	hsa-miR-3194-5p	PAR-CLIP	23592263
MIRT477910	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT477909	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT733009	hsa-miR-93-3p	Luciferase reporter assay	33660100
MIRT688420	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT688419	hsa-miR-605-5p	HITS-CLIP	23313552
MIRT688418	hsa-miR-6858-3p	HITS-CLIP	23313552
MIRT688417	hsa-miR-4676-5p	HITS-CLIP	23313552
MIRT688416	hsa-miR-575	HITS-CLIP	23313552
MIRT688415	hsa-miR-188-5p	HITS-CLIP	23313552
MIRT688414	hsa-miR-6866-3p	HITS-CLIP	23313552
MIRT688413	hsa-miR-4780	HITS-CLIP	23313552
MIRT688412	hsa-miR-6780b-3p	HITS-CLIP	23313552
MIRT688411	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT688410	hsa-miR-623	HITS-CLIP	23313552
MIRT494092	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT494091	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT494090	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT494089	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT494088	hsa-miR-302e	PAR-CLIP	22012620
MIRT494087	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT494086	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT494085	hsa-miR-520b	PAR-CLIP	22012620
MIRT494084	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT494083	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT494082	hsa-miR-520e	PAR-CLIP	22012620
MIRT494081	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT053023	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT494080	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT494079	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT494078	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT494077	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT494076	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT494075	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT494074	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT494073	hsa-miR-5590-3p	PAR-CLIP	22012620
MIRT494072	hsa-miR-142-5p	PAR-CLIP	22012620
MIRT494071	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT494070	hsa-miR-3609	PAR-CLIP	22012620
MIRT494069	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT494068	hsa-miR-4796-3p	PAR-CLIP	22012620
MIRT494067	hsa-miR-4742-3p	PAR-CLIP	22012620
MIRT494066	hsa-miR-3686	PAR-CLIP	22012620
MIRT494065	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT494064	hsa-miR-568	PAR-CLIP	22012620
MIRT494063	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT494092	hsa-miR-373-3p	PAR-CLIP	23592263
MIRT494091	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT494090	hsa-miR-302d-3p	PAR-CLIP	23592263
MIRT494089	hsa-miR-302a-3p	PAR-CLIP	23592263
MIRT494088	hsa-miR-302e	PAR-CLIP	23592263
MIRT494087	hsa-miR-372-3p	PAR-CLIP	23592263
MIRT494086	hsa-miR-520a-3p	PAR-CLIP	23592263
MIRT494085	hsa-miR-520b	PAR-CLIP	23592263
MIRT494084	hsa-miR-520c-3p	PAR-CLIP	23592263
MIRT494083	hsa-miR-520d-3p	PAR-CLIP	23592263
MIRT494082	hsa-miR-520e	PAR-CLIP	23592263
MIRT494081	hsa-miR-302b-3p	PAR-CLIP	23592263
MIRT053023	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT494080	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT494079	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT494078	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT494077	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT494076	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT494075	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT494074	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT494073	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT494072	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT494071	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT494070	hsa-miR-3609	PAR-CLIP	23592263
MIRT494069	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT494068	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT494067	hsa-miR-4742-3p	PAR-CLIP	23592263
MIRT494066	hsa-miR-3686	PAR-CLIP	23592263
MIRT494065	hsa-miR-4639-5p	PAR-CLIP	23592263
MIRT494064	hsa-miR-568	PAR-CLIP	23592263
MIRT494063	hsa-miR-6793-3p	PAR-CLIP	23592263
MIRT477925	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT007102	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT477924	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT477923	hsa-miR-634	PAR-CLIP	23592263
MIRT477922	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT477921	hsa-miR-6895-5p	PAR-CLIP	23592263
MIRT477920	hsa-miR-4733-3p	PAR-CLIP	23592263
MIRT477919	hsa-miR-922	PAR-CLIP	23592263
MIRT477918	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT477917	hsa-miR-1910-5p	PAR-CLIP	23592263
MIRT477916	hsa-miR-4530	PAR-CLIP	23592263
MIRT477915	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT477914	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT477913	hsa-miR-4264	PAR-CLIP	23592263
MIRT477912	hsa-miR-298	PAR-CLIP	23592263
MIRT477911	hsa-miR-3194-5p	PAR-CLIP	23592263
MIRT477910	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT477909	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT947775	hsa-miR-3158-3p	CLIP-seq
MIRT947776	hsa-miR-3165	CLIP-seq
MIRT947777	hsa-miR-3180-5p	CLIP-seq
MIRT947778	hsa-miR-323-5p	CLIP-seq
MIRT947779	hsa-miR-3619-3p	CLIP-seq
MIRT947780	hsa-miR-3934	CLIP-seq
MIRT947781	hsa-miR-421	CLIP-seq
MIRT947782	hsa-miR-4270	CLIP-seq
MIRT947783	hsa-miR-4284	CLIP-seq
MIRT947784	hsa-miR-4441	CLIP-seq
MIRT947785	hsa-miR-4738-5p	CLIP-seq
MIRT947786	hsa-miR-4776-5p	CLIP-seq
MIRT947787	hsa-miR-4800-5p	CLIP-seq
MIRT947788	hsa-miR-488	CLIP-seq
MIRT947789	hsa-miR-552	CLIP-seq
MIRT947790	hsa-miR-876-3p	CLIP-seq
MIRT1980812	hsa-miR-2355-5p	CLIP-seq
MIRT1980813	hsa-miR-329	CLIP-seq
MIRT1980814	hsa-miR-362-3p	CLIP-seq
MIRT1980815	hsa-miR-425	CLIP-seq
MIRT1980816	hsa-miR-642b	CLIP-seq
MIRT1980817	hsa-miR-873	CLIP-seq
MIRT1980818	hsa-miR-939	CLIP-seq
MIRT2215814	hsa-let-7a	CLIP-seq
MIRT2215815	hsa-let-7b	CLIP-seq
MIRT2215816	hsa-let-7c	CLIP-seq
MIRT2215817	hsa-let-7d	CLIP-seq
MIRT2215818	hsa-let-7e	CLIP-seq
MIRT2215819	hsa-let-7f	CLIP-seq
MIRT2215820	hsa-let-7g	CLIP-seq
MIRT2215821	hsa-let-7i	CLIP-seq
MIRT2215822	hsa-miR-1207-3p	CLIP-seq
MIRT2215823	hsa-miR-1266	CLIP-seq
MIRT2215824	hsa-miR-1285	CLIP-seq
MIRT2215825	hsa-miR-1291	CLIP-seq
MIRT2215826	hsa-miR-15a	CLIP-seq
MIRT2215827	hsa-miR-15b	CLIP-seq
MIRT2215828	hsa-miR-16	CLIP-seq
MIRT2215829	hsa-miR-1910	CLIP-seq
MIRT2215830	hsa-miR-195	CLIP-seq
MIRT2215831	hsa-miR-2467-3p	CLIP-seq
MIRT2215832	hsa-miR-3136-3p	CLIP-seq
MIRT2215833	hsa-miR-3155	CLIP-seq
MIRT2215834	hsa-miR-3155b	CLIP-seq
MIRT947775	hsa-miR-3158-3p	CLIP-seq
MIRT2215835	hsa-miR-3173-5p	CLIP-seq
MIRT2215836	hsa-miR-3184	CLIP-seq
MIRT2215837	hsa-miR-3187-5p	CLIP-seq
MIRT2215838	hsa-miR-3189-3p	CLIP-seq
MIRT2215839	hsa-miR-3199	CLIP-seq
MIRT947778	hsa-miR-323-5p	CLIP-seq
MIRT1980813	hsa-miR-329	CLIP-seq
MIRT1980814	hsa-miR-362-3p	CLIP-seq
MIRT2215840	hsa-miR-3663-3p	CLIP-seq
MIRT2215841	hsa-miR-3664-3p	CLIP-seq
MIRT947781	hsa-miR-421	CLIP-seq
MIRT2215842	hsa-miR-423-5p	CLIP-seq
MIRT2215843	hsa-miR-424	CLIP-seq
MIRT1980815	hsa-miR-425	CLIP-seq
MIRT2215844	hsa-miR-4257	CLIP-seq
MIRT2215845	hsa-miR-4292	CLIP-seq
MIRT2215846	hsa-miR-432	CLIP-seq
MIRT2215847	hsa-miR-4326	CLIP-seq
MIRT2215848	hsa-miR-4458	CLIP-seq
MIRT2215849	hsa-miR-4480	CLIP-seq
MIRT2215850	hsa-miR-4500	CLIP-seq
MIRT2215851	hsa-miR-4514	CLIP-seq
MIRT2215852	hsa-miR-4518	CLIP-seq
MIRT2215853	hsa-miR-4524	CLIP-seq
MIRT2215854	hsa-miR-4633-3p	CLIP-seq
MIRT2215855	hsa-miR-4645-5p	CLIP-seq
MIRT2215856	hsa-miR-4652-5p	CLIP-seq
MIRT2215857	hsa-miR-4663	CLIP-seq
MIRT2215858	hsa-miR-4673	CLIP-seq
MIRT2215859	hsa-miR-4692	CLIP-seq
MIRT2215860	hsa-miR-4710	CLIP-seq
MIRT2215861	hsa-miR-4719	CLIP-seq
MIRT2215862	hsa-miR-4722-3p	CLIP-seq
MIRT2215863	hsa-miR-484	CLIP-seq
MIRT2215864	hsa-miR-497	CLIP-seq
MIRT2215865	hsa-miR-502-5p	CLIP-seq
MIRT2215866	hsa-miR-503	CLIP-seq
MIRT2215867	hsa-miR-612	CLIP-seq
MIRT1980816	hsa-miR-642b	CLIP-seq
MIRT2215868	hsa-miR-646	CLIP-seq
MIRT2215869	hsa-miR-659	CLIP-seq
MIRT947790	hsa-miR-876-3p	CLIP-seq
MIRT2215870	hsa-miR-940	CLIP-seq
MIRT2215871	hsa-miR-98	CLIP-seq
MIRT2215824	hsa-miR-1285	CLIP-seq
MIRT2215825	hsa-miR-1291	CLIP-seq
MIRT2215837	hsa-miR-3187-5p	CLIP-seq
MIRT2215845	hsa-miR-4292	CLIP-seq
MIRT2215855	hsa-miR-4645-5p	CLIP-seq
MIRT2215858	hsa-miR-4673	CLIP-seq
MIRT2215867	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001706	Process	Endoderm formation	IBA
GO:0004721	Function	Phosphoprotein phosphatase activity	IBA
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS	7681221
GO:0005515	Function	Protein binding	IPI	21784977
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8107850
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0006470	Process	Protein dephosphorylation	TAS	8107850
GO:0007165	Process	Signal transduction	IBA
GO:0008330	Function	Protein tyrosine/threonine phosphatase activity	TAS	8107850
GO:0016787	Function	Hydrolase activity	IEA
GO:0017017	Function	MAP kinase tyrosine/serine/threonine phosphatase activity	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0043409	Process	Negative regulation of MAPK cascade	IBA
GO:0051019	Function	Mitogen-activated protein kinase binding	IEA

Other IDs

• MIM: 603068
• HGNC: 3068
• e!Ensembl: ENSG00000158050

Protein

• UniProt ID: Q05923
• Protein name: Dual specificity protein phosphatase 2 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase PAC-1)
• Protein function: Dephosphorylates both phosphorylated Thr and Tyr residues in MAPK1, and dephosphorylation of phosphotyrosine is slightly faster than that of phosphothreonine (PubMed:8107850). Can dephosphorylate MAPK1 (By similarity). {ECO:0000250|UniProtKB:Q05
• PDB: 1M3G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00581	Rhodanese	15 → 138	Rhodanese-like domain	Domain
  PF00782	DSPc	180 → 310	Dual specificity phosphatase, catalytic domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in hematopoietic tissues.
• Sequence:

  MGLEAARELECAALGTLLRDPREAERTLLLDCRPFLAFCRRHVRAARPVPWNALLRRRAR
  GPPAAVLACLLPDRALRTRLVRGELARAVVLDEGSASVAELRPDSPAHVLLAALLHETRA
  GPTAVYFLRGGFDGFQGCCPDLCSEAPAPALPPTGDKTSRSDSRAPVYDQGGPVEILPYL
  FLGSCSHSSDLQGLQACGITAVLNVSASCPNHFEGLFRYKSIPVEDNQMVEISAWFQEAI
  GFIDWVKNSGGRVLVHCQAGISRSATICLAYLMQSRRVRLDEAFDFVKQRRGVISPNFSF
  MGQLLQFETQVLCH

• Sequence length: 314

Pathways

KEGG:

MAPK signaling pathway
Efferocytosis

Reactome:

RAF-independent MAPK1/3 activation
Negative regulation of MAPK pathway

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
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	10339498		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31788045		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	8637912		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	26679893		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30042387		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	11703349	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23972788		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23972788		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	18774390	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30571484		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31766293		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26658105		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	36857067	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	16888207		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19958095		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	20633309	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30458195		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	12189025, 12525806, 25466164, 26301697, 29869943, 36179652	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	16497877	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10867818, 30859090		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14742913, 18836996		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25596742, 29422643	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31326577		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26833217	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	26833217	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30458195		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11193832, 12409225, 26833217		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	BEFREE	31788045		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	30763823		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	23628440		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25538042		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	31792942		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29526016		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	26479789		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14742913, 23027623, 28026024, 28652251, 29541187		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	14742913		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28652251, 29540997, 29541187, 30011263		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23027623, 25541970, 28627973, 30011263, 40302325	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	16823482		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28392470		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	26083362	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	21984126, 28440564		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27900577, 29113289		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27900577, 29113289		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10867818, 29113289, 30859090		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25792385	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	35813414	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28392470		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	30213827	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29526016		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	16823490		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19581838		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24914205	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25596742	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	19581838		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29526016		★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	30259317		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	36160033	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	14680939		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10339498	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	14680939		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26833217	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22473939, 35030632	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	30859090		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14742913, 18836996		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11193832, 12409225, 26833217		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16372333, 16888207		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30458195		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14767517, 16019382, 26833217, 27297867, 27566169, 28026024, 28627973, 28652251, 29541187, 30458195, 31554935		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	14742913, 23027623, 28026024, 28652251, 29541187		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16019382, 18836996		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	26658105		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	30859090		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24220567		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	26833217		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31284862		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	20974589, 22766684, 28776455, 29500688, 30799680		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16497877	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24030118, 26257207		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	39613182	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35689852	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27151235, 28026024, 28652251, 29269017, 30011263, 30458195, 31788045		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16226889, 17995938, 19269029		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29940242		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	24220567		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	16888199		★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	26658840		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26261507		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	30022438		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	10867818		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26679893		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31889045	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36707884	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	19006382, 30042387		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	27566169		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29704474		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	15203712	Inhibit	★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	Bartsocas-Papas syndrome	BEFREE	30259317		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	21350482, 25680674		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16372333, 16888207		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10583729, 11166332		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30524940		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	36857067	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17387318, 19958095, 27383213, 28125634		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	20633309	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34365722, 36217165	Associate	★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	Pubtator	25607928	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	32920367	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	10867818		★☆☆☆☆ Found in Text Mining only