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:0001085	Function	RNA polymerase II transcription factor binding	IBA	21873635
GO:0003677	Function	DNA binding	IEA
GO:0003712	Function	Transcription coregulator activity	IBA	21873635
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:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007259	Process	Receptor signaling pathway via JAK-STAT	TAS	10805787
GO:0007283	Process	Spermatogenesis	IEA
GO:0008022	Function	Protein C-terminus binding	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008542	Process	Visual learning	IEA
GO:0016605	Component	PML body	ISS
GO:0016607	Component	Nuclear speck	IEA
GO:0016925	Process	Protein sumoylation	IBA	21873635
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
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	ISS
GO:0033235	Process	Positive regulation of protein sumoylation	IDA	17696781, 21965678
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 transcription, DNA-templated	IEA
GO:0051152	Process	Positive regulation of smooth muscle cell differentiation	IEA
GO:0060334	Process	Regulation of interferon-gamma-mediated signaling pathway	TAS
GO:0061665	Function	SUMO ligase activity	IBA	21873635
GO:0061665	Function	SUMO ligase activity	IDA	18579533, 27068747
GO:0065004	Process	Protein-DNA complex assembly	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

Causal
Disease term	Disease name	dbSNP ID	References
Nephronophthisis	Nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856, rs137852918, rs137852919, rs137852920, rs28940891, rs1278089386, rs137852922, rs137852923, rs1233478832, rs121907898, rs121907899, rs74315396, rs104893698, rs28936684, rs104893701, rs104893705, rs797044441, rs104893716, rs121964994, rs267607185, rs200844390, rs753348470, rs387906983, rs786205114, rs373909351, rs387907009, rs140511594, rs387907059, rs766132877, rs201188361, rs193922432, rs1565649749, rs387907309, rs387907310, rs387907311, rs145646425, rs397514728, rs397514257, rs587777024, rs587777025, rs397514258, rs375661404, rs398123285, rs398123538, rs398124546, rs368138001, rs587777350, rs587777351, rs587777352, rs587777486, rs879255575, rs368619022, rs879255576, rs587777487, rs369483167, rs587777488, rs587783011, rs144972972, rs727503968, rs727503969, rs730880299, rs757704417, rs760040426, rs758558609, rs755549444, rs763300393, rs794727964, rs182135982, rs758498695, rs775883520, rs777686211, rs756856188, rs777668842, rs756302731, rs751527253, rs138783896, rs869312915, rs769256610, rs878855332, rs376879175, rs878855335, rs886041154, rs886041637, rs766524637, rs769739938, rs201405662, rs376974221, rs201633414, rs1057519303, rs1057519304, rs202001274, rs1057519305, rs1057519306, rs752616462, rs1060499938, rs745340459, rs771215577, rs1064794347, rs201091657, rs771742823, rs1553484094, rs747861275, rs773521620, rs1456714047, rs1553773271, rs1555564134, rs752792782, rs398124289, rs1025515771, rs747052534, rs904520404, rs1553200990, rs1553178047, rs866982675, rs1182741031, rs1556026984, rs150001738, rs780247729, rs1555564214, rs372607453, rs61893682, rs549662742, rs774456004, rs1189889920, rs370210428, rs1557580413, rs1368105372, rs1559056633, rs765263671, rs1280238814, rs1560000875, rs1560002147, rs758238787, rs201237799, rs1560017690, rs1564123602, rs1425211517, rs369437168, rs764893412, rs747914869, rs778819060, rs1207804224, rs756090222, rs1564228101, rs1565455033, rs1322951938, rs1564236717, rs1565454034, rs375753623, rs374141736, rs1349732291, rs1017750255, rs1210874691, rs1379989124, rs1565582604, rs1485445500, rs758275952, rs1276839362, rs1576682880, rs1588420907, rs375416014, rs955421639, rs1596759273, rs755288504, rs1588153872, rs780020801, rs1576660495, rs1596088812, rs1576875819, rs779696701, rs759262253, rs775612958, rs1570504754, rs754862360, rs1679148969, rs1311042980, rs1682584195, rs753517219, rs1358793834, rs1560002113, rs1939543636, rs1205325321, rs1329661241, rs140611214, rs780500128, rs2061113374, rs1652115764, rs780148543, rs749866369, rs1459158279, rs756111113	26489029

Unknown
Disease term	Disease name	Evidence	References	Source
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Uterine Fibroids	Uterine Fibroids			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	30717818
Breast Neoplasms	Associate	28493978
Carcinogenesis	Associate	22449952, 31639157
Carcinoma Non Small Cell Lung	Associate	32493705, 37664931
Ciliopathies	Associate	26489029
Colonic Neoplasms	Associate	19074829
COVID 19	Associate	35231079
Cystic Fibrosis	Stimulate	12948935
Epstein Barr Virus Infections	Associate	29262325
Multiple Myeloma	Stimulate	19965618
Neoplasm Metastasis	Associate	39233667
Neoplasms	Associate	11583632, 15133049, 26257066, 32047143
Obesity	Associate	35051171
Osteitis Deformans	Associate	39233667
Pancreatitis	Associate	37102653
Pneumonia	Associate	26911452
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	34054823
Prostatic Neoplasms	Associate	22449952, 25552417, 26257066, 27672034, 32047143
Pulmonary Disease Chronic Obstructive	Associate	33057025
Thrombocythemia Essential	Inhibit	24301930