USP12 (ubiquitin specific peptidase 12)

Gene

• Entrez ID: 219333
• Gene name: Ubiquitin specific peptidase 12
• Gene symbol: USP12
• Synonyms (NCBI Gene): UBH1, USP12L1
• Chromosome: 13
• Chromosome location: 13q12.13

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002534	hsa-miR-373-3p	Microarray	15685193
MIRT002534	hsa-miR-373-3p	Microarray;Other	15685193
MIRT024309	hsa-miR-215-5p	Microarray	19074876
MIRT026621	hsa-miR-192-5p	Microarray	19074876
MIRT037403	hsa-miR-744-5p	CLASH	23622248
MIRT052688	hsa-miR-1260b	CLASH	23622248
MIRT1477466	hsa-let-7a	CLIP-seq
MIRT1477467	hsa-let-7b	CLIP-seq
MIRT1477468	hsa-let-7c	CLIP-seq
MIRT1477469	hsa-let-7d	CLIP-seq
MIRT1477470	hsa-let-7e	CLIP-seq
MIRT1477471	hsa-let-7f	CLIP-seq
MIRT1477472	hsa-let-7g	CLIP-seq
MIRT1477473	hsa-let-7i	CLIP-seq
MIRT1477474	hsa-miR-10a	CLIP-seq
MIRT1477475	hsa-miR-10b	CLIP-seq
MIRT1477476	hsa-miR-1252	CLIP-seq
MIRT1477477	hsa-miR-125a-5p	CLIP-seq
MIRT1477478	hsa-miR-125b	CLIP-seq
MIRT1477479	hsa-miR-1273e	CLIP-seq
MIRT1477480	hsa-miR-1294	CLIP-seq
MIRT1477481	hsa-miR-148a	CLIP-seq
MIRT1477482	hsa-miR-148b	CLIP-seq
MIRT1477483	hsa-miR-152	CLIP-seq
MIRT1477484	hsa-miR-186	CLIP-seq
MIRT1477485	hsa-miR-202	CLIP-seq
MIRT1477486	hsa-miR-2110	CLIP-seq
MIRT1477487	hsa-miR-2681	CLIP-seq
MIRT1477488	hsa-miR-3074-3p	CLIP-seq
MIRT1477489	hsa-miR-3074-5p	CLIP-seq
MIRT1477490	hsa-miR-3124-3p	CLIP-seq
MIRT1477491	hsa-miR-3127-3p	CLIP-seq
MIRT1477492	hsa-miR-3133	CLIP-seq
MIRT1477493	hsa-miR-3140-5p	CLIP-seq
MIRT1477494	hsa-miR-3145-3p	CLIP-seq
MIRT1477495	hsa-miR-3148	CLIP-seq
MIRT1477496	hsa-miR-3150a-3p	CLIP-seq
MIRT1477497	hsa-miR-3164	CLIP-seq
MIRT1477498	hsa-miR-3189-3p	CLIP-seq
MIRT1477499	hsa-miR-331-5p	CLIP-seq
MIRT1477500	hsa-miR-338-5p	CLIP-seq
MIRT1477501	hsa-miR-339-3p	CLIP-seq
MIRT1477502	hsa-miR-3660	CLIP-seq
MIRT1477503	hsa-miR-3671	CLIP-seq
MIRT1477504	hsa-miR-3679-3p	CLIP-seq
MIRT1477505	hsa-miR-369-3p	CLIP-seq
MIRT1477506	hsa-miR-374a	CLIP-seq
MIRT1477507	hsa-miR-374b	CLIP-seq
MIRT1477508	hsa-miR-377	CLIP-seq
MIRT1477509	hsa-miR-3922-5p	CLIP-seq
MIRT1477510	hsa-miR-3974	CLIP-seq
MIRT1477511	hsa-miR-4267	CLIP-seq
MIRT1477512	hsa-miR-4277	CLIP-seq
MIRT1477513	hsa-miR-4286	CLIP-seq
MIRT1477514	hsa-miR-4316	CLIP-seq
MIRT1477515	hsa-miR-4319	CLIP-seq
MIRT1477516	hsa-miR-4326	CLIP-seq
MIRT1477517	hsa-miR-4420	CLIP-seq
MIRT1477518	hsa-miR-4436a	CLIP-seq
MIRT1477519	hsa-miR-4458	CLIP-seq
MIRT1477520	hsa-miR-4500	CLIP-seq
MIRT1477521	hsa-miR-4503	CLIP-seq
MIRT1477522	hsa-miR-4526	CLIP-seq
MIRT1477523	hsa-miR-4635	CLIP-seq
MIRT1477524	hsa-miR-4662a-5p	CLIP-seq
MIRT1477525	hsa-miR-4676-5p	CLIP-seq
MIRT1477526	hsa-miR-4677-3p	CLIP-seq
MIRT1477527	hsa-miR-4678	CLIP-seq
MIRT1477528	hsa-miR-4690-3p	CLIP-seq
MIRT1477529	hsa-miR-4691-5p	CLIP-seq
MIRT1477530	hsa-miR-4699-3p	CLIP-seq
MIRT1477531	hsa-miR-4709-3p	CLIP-seq
MIRT1477532	hsa-miR-4718	CLIP-seq
MIRT1477533	hsa-miR-4753-3p	CLIP-seq
MIRT1477534	hsa-miR-4756-3p	CLIP-seq
MIRT1477535	hsa-miR-4768-5p	CLIP-seq
MIRT1477536	hsa-miR-495	CLIP-seq
MIRT1477537	hsa-miR-501-5p	CLIP-seq
MIRT1477538	hsa-miR-516a-3p	CLIP-seq
MIRT1477539	hsa-miR-520d-5p	CLIP-seq
MIRT1477540	hsa-miR-520f	CLIP-seq
MIRT1477541	hsa-miR-524-5p	CLIP-seq
MIRT1477542	hsa-miR-526b	CLIP-seq
MIRT1477543	hsa-miR-548c-3p	CLIP-seq
MIRT1477544	hsa-miR-548m	CLIP-seq
MIRT1477545	hsa-miR-575	CLIP-seq
MIRT1477546	hsa-miR-578	CLIP-seq
MIRT1477547	hsa-miR-607	CLIP-seq
MIRT1477548	hsa-miR-625	CLIP-seq
MIRT1477549	hsa-miR-636	CLIP-seq
MIRT1477550	hsa-miR-640	CLIP-seq
MIRT1477551	hsa-miR-875-5p	CLIP-seq
MIRT1477552	hsa-miR-98	CLIP-seq
MIRT2143792	hsa-miR-1238	CLIP-seq
MIRT2143793	hsa-miR-1243	CLIP-seq
MIRT1477476	hsa-miR-1252	CLIP-seq
MIRT2143794	hsa-miR-1272	CLIP-seq
MIRT2143795	hsa-miR-128	CLIP-seq
MIRT2143796	hsa-miR-1302	CLIP-seq
MIRT2143797	hsa-miR-1322	CLIP-seq
MIRT2143798	hsa-miR-1324	CLIP-seq
MIRT2143799	hsa-miR-145	CLIP-seq
MIRT2143800	hsa-miR-217	CLIP-seq
MIRT2143801	hsa-miR-2276	CLIP-seq
MIRT2143802	hsa-miR-27a	CLIP-seq
MIRT2143803	hsa-miR-27b	CLIP-seq
MIRT2143804	hsa-miR-296-3p	CLIP-seq
MIRT2143805	hsa-miR-296-5p	CLIP-seq
MIRT2143806	hsa-miR-297	CLIP-seq
MIRT2143807	hsa-miR-298	CLIP-seq
MIRT2143808	hsa-miR-299-5p	CLIP-seq
MIRT1477490	hsa-miR-3124-3p	CLIP-seq
MIRT2143809	hsa-miR-3130-3p	CLIP-seq
MIRT2143810	hsa-miR-3136-3p	CLIP-seq
MIRT1477494	hsa-miR-3145-3p	CLIP-seq
MIRT2143811	hsa-miR-3147	CLIP-seq
MIRT2143812	hsa-miR-3149	CLIP-seq
MIRT2143813	hsa-miR-3158-3p	CLIP-seq
MIRT2143814	hsa-miR-3158-5p	CLIP-seq
MIRT1477497	hsa-miR-3164	CLIP-seq
MIRT2143815	hsa-miR-3183	CLIP-seq
MIRT2143816	hsa-miR-320a	CLIP-seq
MIRT2143817	hsa-miR-320b	CLIP-seq
MIRT2143818	hsa-miR-320c	CLIP-seq
MIRT2143819	hsa-miR-320d	CLIP-seq
MIRT2143820	hsa-miR-324-5p	CLIP-seq
MIRT2143821	hsa-miR-3613-5p	CLIP-seq
MIRT2143822	hsa-miR-3614-3p	CLIP-seq
MIRT2143823	hsa-miR-3647-3p	CLIP-seq
MIRT1477503	hsa-miR-3671	CLIP-seq
MIRT1477504	hsa-miR-3679-3p	CLIP-seq
MIRT2143824	hsa-miR-3688-3p	CLIP-seq
MIRT1477506	hsa-miR-374a	CLIP-seq
MIRT1477507	hsa-miR-374b	CLIP-seq
MIRT2143825	hsa-miR-376c	CLIP-seq
MIRT2143826	hsa-miR-3920	CLIP-seq
MIRT2143827	hsa-miR-421	CLIP-seq
MIRT2143828	hsa-miR-4279	CLIP-seq
MIRT2143829	hsa-miR-4298	CLIP-seq
MIRT2143830	hsa-miR-4418	CLIP-seq
MIRT2143831	hsa-miR-4425	CLIP-seq
MIRT2143832	hsa-miR-4429	CLIP-seq
MIRT1477521	hsa-miR-4503	CLIP-seq
MIRT2143833	hsa-miR-4645-5p	CLIP-seq
MIRT2143834	hsa-miR-4673	CLIP-seq
MIRT2143835	hsa-miR-4698	CLIP-seq
MIRT1477530	hsa-miR-4699-3p	CLIP-seq
MIRT2143836	hsa-miR-4709-5p	CLIP-seq
MIRT2143837	hsa-miR-4712-5p	CLIP-seq
MIRT2143838	hsa-miR-4723-3p	CLIP-seq
MIRT2143839	hsa-miR-4733-5p	CLIP-seq
MIRT1477535	hsa-miR-4768-5p	CLIP-seq
MIRT2143840	hsa-miR-4775	CLIP-seq
MIRT2143841	hsa-miR-4795-3p	CLIP-seq
MIRT2143842	hsa-miR-499-3p	CLIP-seq
MIRT2143843	hsa-miR-499a-3p	CLIP-seq
MIRT2143844	hsa-miR-505	CLIP-seq
MIRT2143845	hsa-miR-509-3-5p	CLIP-seq
MIRT2143846	hsa-miR-509-5p	CLIP-seq
MIRT2143847	hsa-miR-5096	CLIP-seq
MIRT2143848	hsa-miR-511	CLIP-seq
MIRT2143849	hsa-miR-548al	CLIP-seq
MIRT1477543	hsa-miR-548c-3p	CLIP-seq
MIRT2143850	hsa-miR-548l	CLIP-seq
MIRT1477544	hsa-miR-548m	CLIP-seq
MIRT2143851	hsa-miR-548n	CLIP-seq
MIRT2143852	hsa-miR-590-3p	CLIP-seq
MIRT2143853	hsa-miR-602	CLIP-seq
MIRT1477547	hsa-miR-607	CLIP-seq
MIRT1477548	hsa-miR-625	CLIP-seq
MIRT2143854	hsa-miR-642b	CLIP-seq
MIRT2143855	hsa-miR-656	CLIP-seq
MIRT2143856	hsa-miR-659	CLIP-seq
MIRT2143857	hsa-miR-770-5p	CLIP-seq
MIRT2143858	hsa-miR-873	CLIP-seq
MIRT1477466	hsa-let-7a	CLIP-seq
MIRT1477467	hsa-let-7b	CLIP-seq
MIRT1477468	hsa-let-7c	CLIP-seq
MIRT1477469	hsa-let-7d	CLIP-seq
MIRT1477470	hsa-let-7e	CLIP-seq
MIRT1477471	hsa-let-7f	CLIP-seq
MIRT1477472	hsa-let-7g	CLIP-seq
MIRT1477473	hsa-let-7i	CLIP-seq
MIRT1477474	hsa-miR-10a	CLIP-seq
MIRT1477475	hsa-miR-10b	CLIP-seq
MIRT2364064	hsa-miR-1226	CLIP-seq
MIRT2143792	hsa-miR-1238	CLIP-seq
MIRT2143793	hsa-miR-1243	CLIP-seq
MIRT1477480	hsa-miR-1294	CLIP-seq
MIRT2143798	hsa-miR-1324	CLIP-seq
MIRT1477485	hsa-miR-202	CLIP-seq
MIRT2143800	hsa-miR-217	CLIP-seq
MIRT2143804	hsa-miR-296-3p	CLIP-seq
MIRT1477490	hsa-miR-3124-3p	CLIP-seq
MIRT2143809	hsa-miR-3130-3p	CLIP-seq
MIRT2364065	hsa-miR-3157-5p	CLIP-seq
MIRT2364066	hsa-miR-3160-5p	CLIP-seq
MIRT1477497	hsa-miR-3164	CLIP-seq
MIRT2364067	hsa-miR-330-3p	CLIP-seq
MIRT1477499	hsa-miR-331-5p	CLIP-seq
MIRT2143825	hsa-miR-376c	CLIP-seq
MIRT1477508	hsa-miR-377	CLIP-seq
MIRT2364068	hsa-miR-3919	CLIP-seq
MIRT1477510	hsa-miR-3974	CLIP-seq
MIRT1477514	hsa-miR-4316	CLIP-seq
MIRT2143830	hsa-miR-4418	CLIP-seq
MIRT2364069	hsa-miR-4422	CLIP-seq
MIRT1477518	hsa-miR-4436a	CLIP-seq
MIRT1477519	hsa-miR-4458	CLIP-seq
MIRT1477520	hsa-miR-4500	CLIP-seq
MIRT2143833	hsa-miR-4645-5p	CLIP-seq
MIRT2364070	hsa-miR-4659a-3p	CLIP-seq
MIRT2364071	hsa-miR-4659b-3p	CLIP-seq
MIRT2143834	hsa-miR-4673	CLIP-seq
MIRT1477526	hsa-miR-4677-3p	CLIP-seq
MIRT1477527	hsa-miR-4678	CLIP-seq
MIRT2364072	hsa-miR-4691-3p	CLIP-seq
MIRT1477531	hsa-miR-4709-3p	CLIP-seq
MIRT2364073	hsa-miR-4724-5p	CLIP-seq
MIRT2364074	hsa-miR-4732-3p	CLIP-seq
MIRT2364075	hsa-miR-4742-5p	CLIP-seq
MIRT1477535	hsa-miR-4768-5p	CLIP-seq
MIRT2143841	hsa-miR-4795-3p	CLIP-seq
MIRT2143845	hsa-miR-509-3-5p	CLIP-seq
MIRT2143846	hsa-miR-509-5p	CLIP-seq
MIRT2143848	hsa-miR-511	CLIP-seq
MIRT2143849	hsa-miR-548al	CLIP-seq
MIRT2143853	hsa-miR-602	CLIP-seq
MIRT2143854	hsa-miR-642b	CLIP-seq
MIRT2143855	hsa-miR-656	CLIP-seq
MIRT2143858	hsa-miR-873	CLIP-seq
MIRT1477552	hsa-miR-98	CLIP-seq
MIRT1477466	hsa-let-7a	CLIP-seq
MIRT1477467	hsa-let-7b	CLIP-seq
MIRT1477468	hsa-let-7c	CLIP-seq
MIRT1477469	hsa-let-7d	CLIP-seq
MIRT1477470	hsa-let-7e	CLIP-seq
MIRT1477471	hsa-let-7f	CLIP-seq
MIRT1477472	hsa-let-7g	CLIP-seq
MIRT1477473	hsa-let-7i	CLIP-seq
MIRT1477474	hsa-miR-10a	CLIP-seq
MIRT1477475	hsa-miR-10b	CLIP-seq
MIRT1477480	hsa-miR-1294	CLIP-seq
MIRT1477485	hsa-miR-202	CLIP-seq
MIRT2396729	hsa-miR-302f	CLIP-seq
MIRT2143813	hsa-miR-3158-3p	CLIP-seq
MIRT2396730	hsa-miR-3162-3p	CLIP-seq
MIRT2143816	hsa-miR-320a	CLIP-seq
MIRT2143817	hsa-miR-320b	CLIP-seq
MIRT2143818	hsa-miR-320c	CLIP-seq
MIRT2143819	hsa-miR-320d	CLIP-seq
MIRT1477499	hsa-miR-331-5p	CLIP-seq
MIRT1477514	hsa-miR-4316	CLIP-seq
MIRT2143832	hsa-miR-4429	CLIP-seq
MIRT1477519	hsa-miR-4458	CLIP-seq
MIRT1477520	hsa-miR-4500	CLIP-seq
MIRT1477526	hsa-miR-4677-3p	CLIP-seq
MIRT1477527	hsa-miR-4678	CLIP-seq
MIRT1477552	hsa-miR-98	CLIP-seq
MIRT2364064	hsa-miR-1226	CLIP-seq
MIRT2143792	hsa-miR-1238	CLIP-seq
MIRT2143795	hsa-miR-128	CLIP-seq
MIRT2657816	hsa-miR-1470	CLIP-seq
MIRT2143802	hsa-miR-27a	CLIP-seq
MIRT2143803	hsa-miR-27b	CLIP-seq
MIRT1477490	hsa-miR-3124-3p	CLIP-seq
MIRT2143814	hsa-miR-3158-5p	CLIP-seq
MIRT2364066	hsa-miR-3160-5p	CLIP-seq
MIRT2143816	hsa-miR-320a	CLIP-seq
MIRT2143817	hsa-miR-320b	CLIP-seq
MIRT2143818	hsa-miR-320c	CLIP-seq
MIRT2143819	hsa-miR-320d	CLIP-seq
MIRT2657817	hsa-miR-331-3p	CLIP-seq
MIRT1477501	hsa-miR-339-3p	CLIP-seq
MIRT2657818	hsa-miR-34b	CLIP-seq
MIRT1477508	hsa-miR-377	CLIP-seq
MIRT2657819	hsa-miR-3935	CLIP-seq
MIRT1477510	hsa-miR-3974	CLIP-seq
MIRT1477511	hsa-miR-4267	CLIP-seq
MIRT2657820	hsa-miR-4282	CLIP-seq
MIRT1477517	hsa-miR-4420	CLIP-seq
MIRT2143832	hsa-miR-4429	CLIP-seq
MIRT1477518	hsa-miR-4436a	CLIP-seq
MIRT2657821	hsa-miR-4501	CLIP-seq
MIRT2364070	hsa-miR-4659a-3p	CLIP-seq
MIRT2364071	hsa-miR-4659b-3p	CLIP-seq
MIRT2657822	hsa-miR-4667-3p	CLIP-seq
MIRT2657823	hsa-miR-4704-5p	CLIP-seq
MIRT1477531	hsa-miR-4709-3p	CLIP-seq
MIRT2657824	hsa-miR-4725-5p	CLIP-seq
MIRT2364074	hsa-miR-4732-3p	CLIP-seq
MIRT1477535	hsa-miR-4768-5p	CLIP-seq
MIRT2657825	hsa-miR-4777-3p	CLIP-seq
MIRT2657826	hsa-miR-4789-3p	CLIP-seq
MIRT2657827	hsa-miR-487a	CLIP-seq
MIRT2657828	hsa-miR-504	CLIP-seq
MIRT2657829	hsa-miR-513a-3p	CLIP-seq
MIRT2657830	hsa-miR-548ag	CLIP-seq
MIRT2657831	hsa-miR-548ai	CLIP-seq
MIRT2657832	hsa-miR-548k	CLIP-seq
MIRT1477544	hsa-miR-548m	CLIP-seq
MIRT2143851	hsa-miR-548n	CLIP-seq
MIRT2657833	hsa-miR-548t	CLIP-seq
MIRT2657834	hsa-miR-576-3p	CLIP-seq
MIRT2143854	hsa-miR-642b	CLIP-seq
MIRT2143858	hsa-miR-873	CLIP-seq
MIRT1477551	hsa-miR-875-5p	CLIP-seq
MIRT2657816	hsa-miR-1470	CLIP-seq
MIRT2657817	hsa-miR-331-3p	CLIP-seq
MIRT1477508	hsa-miR-377	CLIP-seq
MIRT2657819	hsa-miR-3935	CLIP-seq
MIRT1477510	hsa-miR-3974	CLIP-seq
MIRT1477511	hsa-miR-4267	CLIP-seq
MIRT1477517	hsa-miR-4420	CLIP-seq
MIRT2657822	hsa-miR-4667-3p	CLIP-seq
MIRT2364074	hsa-miR-4732-3p	CLIP-seq
MIRT2657827	hsa-miR-487a	CLIP-seq
MIRT2657834	hsa-miR-576-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004197	Function	Cysteine-type endopeptidase activity	IMP	19075014
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	19075014
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS	9615226
GO:0005515	Function	Protein binding	IPI	19075014, 19615732, 20147737, 24145035, 27373336, 27650958, 32296183, 32814053, 33844468, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26811477, 30466959
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	26811477, 30466959
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	IDA	30466959
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016579	Process	Protein deubiquitination	IDA	19075014, 24145035
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031647	Process	Regulation of protein stability	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0101005	Function	Deubiquitinase activity	IEA

Other IDs

• MIM: 603091
• HGNC: 20485
• e!Ensembl: ENSG00000152484

Protein

• UniProt ID: O75317
• Protein name: Ubiquitin carboxyl-terminal hydrolase 12 (EC 3.4.19.12) (Deubiquitinating enzyme 12) (Ubiquitin specific peptidase 12) (Ubiquitin thioesterase 12) (Ubiquitin-hydrolyzing enzyme 1) (Ubiquitin-specific-processing protease 12)
• Protein function: Deubiquitinating enzyme that plays various roles in the regulation of the immune response and inflammation (PubMed:19075014, PubMed:27373336). During TCR engagement and activation, translocates into the cytoplasm and deubiquitinates its substrat
• PDB: 5K16, 5K1A, 5K1B, 5K1C, 5L8W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00443	UCH	39 → 366	Ubiquitin carboxyl-terminal hydrolase	Family

• Sequence:

  MEILMTVSKFASICTMGANASALEKEIGPEQFPVNEHYFGLVNFGNTCYCNSVLQALYFC
  RPFREKVLAYKSQPRKKESLLTCLADLFHSIATQKKKVGVIPPKKFITRLRKENELFDNY
  MQQDAHEFLNYLLNTIADILQEERKQEKQNGRLPNGNIDNENNNSTPDPTWVHEIFQGTL
  TNETRCLTCETISSKDEDFLDLSVDVEQNTSITHCLRGFSNTETLCSEYKYYCEECRSKQ
  EAHKRMKVKKLPMILALHLKRFKYMDQLHRYTKLSYRVVFPLELRLFNTSGDATNPDRMY
  DLVAVVVHCGSGPNRGHYIAIVKSHDFWLLFDDDIVEKIDAQAIEEFYGLTSDISKNSES
  GYILFYQSRD

• Sequence length: 370

Pathways

Reactome:

Ub-specific processing proteases

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Huntington Disease	Huntington Disease	BEFREE	30266909, 30323191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26462181, 29755129		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29755129		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	33844468	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26462181, 29755129		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26462181	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26398853		★☆☆☆☆ Found in Text Mining only