PIAS1 (protein inhibitor of activated STAT 1)

Gene

• Entrez ID: 8554
• Gene name: Protein inhibitor of activated STAT 1
• Gene symbol: PIAS1
• Synonyms (NCBI Gene): DDXBP1, GBP, GU/RH-II, ZMIZ3
• Chromosome: 15
• Chromosome location: 15q23
• Summary: This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a centra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs774456004	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003227	hsa-miR-424-5p	Luciferase reporter assay	20065103
MIRT022246	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT547114	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT547113	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT707625	hsa-miR-340-5p	HITS-CLIP	21572407
MIRT521907	hsa-miR-8485	HITS-CLIP	21572407
MIRT521902	hsa-miR-101-3p	HITS-CLIP	21572407
MIRT612145	hsa-miR-1183	HITS-CLIP	21572407
MIRT612144	hsa-miR-1278	HITS-CLIP	21572407
MIRT612143	hsa-let-7a-2-3p	HITS-CLIP	21572407
MIRT612142	hsa-let-7g-3p	HITS-CLIP	21572407
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521899	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT521895	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521899	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612143	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612142	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT521895	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612143	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612142	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612143	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612142	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT547114	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT547113	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT521907	hsa-miR-8485	PAR-CLIP	21572407
MIRT521905	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT521904	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT521903	hsa-miR-603	PAR-CLIP	21572407
MIRT547114	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT547113	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT521899	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT521898	hsa-miR-3941	PAR-CLIP	21572407
MIRT521897	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT521907	hsa-miR-8485	PAR-CLIP	23446348
MIRT521905	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT521904	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT521903	hsa-miR-603	PAR-CLIP	23446348
MIRT521901	hsa-miR-5683	PAR-CLIP	23446348
MIRT521902	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT521899	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521900	hsa-miR-3171	PAR-CLIP	23446348
MIRT521898	hsa-miR-3941	PAR-CLIP	23446348
MIRT521897	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT521896	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT521895	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT547114	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT547113	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT707625	hsa-miR-340-5p	HITS-CLIP	21572407
MIRT521907	hsa-miR-8485	HITS-CLIP	21572407
MIRT521902	hsa-miR-101-3p	HITS-CLIP	21572407
MIRT612145	hsa-miR-1183	HITS-CLIP	21572407
MIRT612144	hsa-miR-1278	HITS-CLIP	21572407
MIRT612143	hsa-let-7a-2-3p	HITS-CLIP	21572407
MIRT612142	hsa-let-7g-3p	HITS-CLIP	21572407
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521899	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT521895	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521899	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612143	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612142	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT521895	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612143	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612142	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT521907	hsa-miR-8485	HITS-CLIP	23824327
MIRT521905	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT521904	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT521903	hsa-miR-603	HITS-CLIP	23824327
MIRT521902	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT612145	hsa-miR-1183	HITS-CLIP	23824327
MIRT612144	hsa-miR-1278	HITS-CLIP	23824327
MIRT521898	hsa-miR-3941	HITS-CLIP	23824327
MIRT521897	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612143	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612142	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT547114	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT547113	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT521907	hsa-miR-8485	PAR-CLIP	21572407
MIRT521905	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT521904	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT521903	hsa-miR-603	PAR-CLIP	21572407
MIRT547114	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT547113	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT521899	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT521898	hsa-miR-3941	PAR-CLIP	21572407
MIRT521897	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT521907	hsa-miR-8485	PAR-CLIP	23446348
MIRT521905	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT521904	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT521903	hsa-miR-603	PAR-CLIP	23446348
MIRT521901	hsa-miR-5683	PAR-CLIP	23446348
MIRT521902	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT521899	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521900	hsa-miR-3171	PAR-CLIP	23446348
MIRT521898	hsa-miR-3941	PAR-CLIP	23446348
MIRT521897	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT521896	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT521895	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT2068497	hsa-miR-1236	CLIP-seq
MIRT2068498	hsa-miR-1298	CLIP-seq
MIRT2068499	hsa-miR-2117	CLIP-seq
MIRT2068500	hsa-miR-4480	CLIP-seq
MIRT2068501	hsa-miR-4727-5p	CLIP-seq
MIRT2068502	hsa-miR-4753-3p	CLIP-seq
MIRT2068503	hsa-miR-4769-3p	CLIP-seq
MIRT2068504	hsa-miR-4778-3p	CLIP-seq
MIRT2068505	hsa-miR-544	CLIP-seq
MIRT2068499	hsa-miR-2117	CLIP-seq
MIRT2068499	hsa-miR-2117	CLIP-seq
MIRT2593478	hsa-miR-3647-3p	CLIP-seq
MIRT2593479	hsa-miR-375	CLIP-seq
MIRT2593480	hsa-miR-4273	CLIP-seq
MIRT2593481	hsa-miR-4677-5p	CLIP-seq
MIRT2593482	hsa-miR-4775	CLIP-seq
MIRT2593483	hsa-miR-590-3p	CLIP-seq
MIRT2068499	hsa-miR-2117	CLIP-seq
MIRT2593478	hsa-miR-3647-3p	CLIP-seq
MIRT2593479	hsa-miR-375	CLIP-seq
MIRT2593480	hsa-miR-4273	CLIP-seq
MIRT2593481	hsa-miR-4677-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	10802669
GO:0000729	Process	DNA double-strand break processing	IDA	10802669, 15064416, 15790808, 26240375
GO:0000785	Component	Chromatin	IBA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003714	Function	Transcription corepressor activity	TAS	10805787
GO:0005515	Function	Protein binding	IPI	14752048, 15133049, 16154161, 18579533, 21338522, 21911577, 21965678, 22555612, 23275563, 25241761, 27211601, 28842558, 32814053
GO:0005634	Component	Nucleus	IDA	14752048, 27068747
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9724754
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006974	Process	DNA damage response	IDA	36050397
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	TAS	10805787
GO:0007283	Process	Spermatogenesis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008542	Process	Visual learning	IEA
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	ISS
GO:0016607	Component	Nuclear speck	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	IBA
GO:0016925	Process	Protein sumoylation	IDA	18579533
GO:0016925	Process	Protein sumoylation	IEA
GO:0016925	Process	Protein sumoylation	ISS
GO:0016925	Process	Protein sumoylation	TAS
GO:0019789	Function	SUMO transferase activity	EXP	12356736, 12393906, 17283066, 20972456, 21965678
GO:0019789	Function	SUMO transferase activity	IEA
GO:0019789	Function	SUMO transferase activity	TAS
GO:0019899	Function	Enzyme binding	IPI	17087506
GO:0019904	Function	Protein domain specific binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS
GO:0033235	Process	Positive regulation of protein sumoylation	IDA	17696781, 21965678
GO:0033235	Process	Positive regulation of protein sumoylation	IEA
GO:0034399	Component	Nuclear periphery	IEA
GO:0034399	Component	Nuclear periphery	ISS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051152	Process	Positive regulation of smooth muscle cell differentiation	IEA
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0061665	Function	SUMO ligase activity	IBA
GO:0061665	Function	SUMO ligase activity	IDA	18579533, 27068747, 36050397
GO:0061665	Function	SUMO ligase activity	IEA
GO:0065004	Process	Protein-DNA complex assembly	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:1904377	Process	Positive regulation of protein localization to cell periphery	IEA

Other IDs

• MIM: 603566
• HGNC: 2752
• e!Ensembl: ENSG00000033800

Protein

• UniProt ID: O75925
• Protein name: E3 SUMO-protein ligase PIAS1 (EC 2.3.2.-) (DEAD/H box-binding protein 1) (E3 SUMO-protein transferase PIAS1) (Gu-binding protein) (GBP) (Protein inhibitor of activated STAT protein 1) (RNA helicase II-binding protein)
• Protein function: Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor (PubMed:11583632, PubMed:11867732, PubMed:14500712, PubMed:21965678, PubMed:36050397
• PDB: 1V66
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14324	PINIT	135 → 286	PINIT domain	Domain
  PF02891	zf-MIZ	331 → 380	MIZ/SP-RING zinc finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in numerous tissues with highest level in testis. {ECO:0000269|PubMed:11439351, ECO:0000269|PubMed:9177271}.
• Sequence:

  MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKEL
  YRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYDGHPASSPLLPVSLLGPKHEL
  ELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLASDNSQRFRETCFAFALTPQQVQQ
  ISSSMDISGTKCDFTVQVQLRFCLSETSCPQEDHFPPNLCVKVNTKPCSLPGYLPPTKNG
  VEPKRPSRPINITSLVRLSTTVPNTIVVSWTAEIGRNYSMAVYLVKQLSSTVLLQRLRAK
  GIRNPDHSRALIKEKLTADPDSEIATTSLRVSLLCPLGKMRLTIPCRALTCSHLQCFDAT
  LYIQMNEKKPTWVCPVCDKKAPYEHLIIDGLFMEILKYCTDCDEIQFKEDGTWAPMRSKK
  EVQEVSASYNGVDGCLSSTLEHQVASHHQSSNKNKKVEVIDLTIDSSSDEEEEEPSAKRT
  CPSLSPTSPLNNKGILSLPHQASPVSRTPSLPAVDTSYINTSLIQDYRHPFHMTPMPYDL
  QGLDFFPFLSGDNQHYNTSLLAAAAAAVSDDQDLLHSSRFFPYTSSQMFLDQLSAGGSTS
  LPTTNGSSSGSNSSLVSSNSLRESHSHTVTNRSSTDTASIFGIIPDIISLD

• Sequence length: 651

Pathways

KEGG:

Ubiquitin mediated proteolysis
JAK-STAT signaling pathway
Hepatitis C

Reactome:

SUMOylation of DNA damage response and repair proteins
SUMOylation of transcription factors
SUMOylation of ubiquitinylation proteins
SUMOylation of transcription cofactors
SUMOylation of intracellular receptors
SUMOylation of chromatin organization proteins
Formation of Incision Complex in GG-NER
Regulation of IFNG signaling

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
Nephronophthisis	Likely pathogenic	rs774456004	RCV000662276	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CEREBROVASCULAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	22406621		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30717818		★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	16835338		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27239040		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	30861611		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24586797, 26219822, 28493978		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28493978	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22449952, 31639157	Associate	★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	27960034		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	26489029	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19074829	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30419807		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10930443, 12948935		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	12948935	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31226136		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	16835338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29713962		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30879905		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31226136		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27146268		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	29212953		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	31370002		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30839018		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30327638		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22406621		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31784083		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24586797, 26219822, 28493978		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22449952, 25552417, 26257066, 31639157		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29556278		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26219822, 26257066, 27239040, 28493978, 29556278, 31639157		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24586797		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19965618	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30419807		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22406621, 22972521, 24586797, 31603456		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	CLINVAR_DG	26489029		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22406621		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22969086		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35051171	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	37102653	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22449952, 25552417, 26257066, 31639157		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22449952, 25552417, 26257066, 27672034, 32047143	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33057025	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29556278		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	24301930	Inhibit	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	31639157		★☆☆☆☆ Found in Text Mining only