PAK1 (p21 (RAC1) activated kinase 1)

Gene

• Entrez ID: 5058
• Gene name: P21 (RAC1) activated kinase 1
• Gene symbol: PAK1
• Synonyms (NCBI Gene): IDDMSSD, PAKalpha, alpha-PAK, p65-PAK
• Chromosome: 11
• Chromosome location: 11q13.5-q14.1
• Summary: This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small G

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1565583382	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1565638316	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1591695781	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000991	hsa-miR-377-3p	Luciferase reporter assay, Western blot	18716028
MIRT000668	hsa-miR-7-5p	Review	19935707
MIRT000668	hsa-miR-7-5p	Luciferase reporter assay, Western blot	18922890
MIRT005336	mmu-miR-465a-5p	Luciferase reporter assay, Western blot	18922890
MIRT023312	hsa-miR-122-5p	Microarray	17612493
MIRT000668	hsa-miR-7-5p	Microarray	19073608
MIRT029738	hsa-miR-26b-5p	Microarray	19088304
MIRT051883	hsa-let-7b-5p	CLASH	23622248
MIRT044750	hsa-miR-320a	CLASH	23622248
MIRT038058	hsa-miR-423-5p	CLASH	23622248
MIRT053026	hsa-let-7a-5p	Immunofluorescence, qRT-PCR, Western blot, Luciferase reporter assay	23339187
MIRT054901	hsa-miR-221-3p	Luciferase reporter assay	23333386
MIRT054901	hsa-miR-221-3p	Luciferase reporter assay	23333386
MIRT531438	hsa-miR-3133	PAR-CLIP	22012620
MIRT531437	hsa-miR-216a-5p	PAR-CLIP	22012620
MIRT531436	hsa-miR-4744	PAR-CLIP	22012620
MIRT531435	hsa-miR-520d-5p	PAR-CLIP	22012620
MIRT531434	hsa-miR-524-5p	PAR-CLIP	22012620
MIRT531433	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT000668	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	27430434
MIRT531438	hsa-miR-3133	PAR-CLIP	22012620
MIRT531437	hsa-miR-216a-5p	PAR-CLIP	22012620
MIRT531436	hsa-miR-4744	PAR-CLIP	22012620
MIRT531435	hsa-miR-520d-5p	PAR-CLIP	22012620
MIRT531434	hsa-miR-524-5p	PAR-CLIP	22012620
MIRT531433	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT755545	hsa-miR-497-3p	Luciferase reporter assay, Western blotting, Flow cytometry	35066776
MIRT756365	hsa-miR-6788-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	36636079
MIRT1211184	hsa-miR-1200	CLIP-seq
MIRT1211185	hsa-miR-1207-3p	CLIP-seq
MIRT1211186	hsa-miR-1224-5p	CLIP-seq
MIRT1211187	hsa-miR-1264	CLIP-seq
MIRT1211188	hsa-miR-1271	CLIP-seq
MIRT1211189	hsa-miR-186	CLIP-seq
MIRT1211190	hsa-miR-216a	CLIP-seq
MIRT1211191	hsa-miR-2467-5p	CLIP-seq
MIRT1211192	hsa-miR-3140-5p	CLIP-seq
MIRT1211193	hsa-miR-3150b-3p	CLIP-seq
MIRT1211194	hsa-miR-3188	CLIP-seq
MIRT1211195	hsa-miR-342-3p	CLIP-seq
MIRT1211196	hsa-miR-377	CLIP-seq
MIRT1211197	hsa-miR-3915	CLIP-seq
MIRT1211198	hsa-miR-3973	CLIP-seq
MIRT1211199	hsa-miR-3975	CLIP-seq
MIRT1211200	hsa-miR-4292	CLIP-seq
MIRT1211201	hsa-miR-4308	CLIP-seq
MIRT1211202	hsa-miR-4663	CLIP-seq
MIRT1211203	hsa-miR-4689	CLIP-seq
MIRT1211204	hsa-miR-4731-3p	CLIP-seq
MIRT1211205	hsa-miR-4784	CLIP-seq
MIRT1211206	hsa-miR-4801	CLIP-seq
MIRT1211207	hsa-miR-485-5p	CLIP-seq
MIRT1211208	hsa-miR-494	CLIP-seq
MIRT1211209	hsa-miR-499-3p	CLIP-seq
MIRT1211210	hsa-miR-499a-3p	CLIP-seq
MIRT1211211	hsa-miR-520g	CLIP-seq
MIRT1211212	hsa-miR-520h	CLIP-seq
MIRT1211213	hsa-miR-526b	CLIP-seq
MIRT1211214	hsa-miR-96	CLIP-seq
MIRT2060618	hsa-miR-141	CLIP-seq
MIRT2060619	hsa-miR-200a	CLIP-seq
MIRT1211191	hsa-miR-2467-5p	CLIP-seq
MIRT1211194	hsa-miR-3188	CLIP-seq
MIRT1211199	hsa-miR-3975	CLIP-seq
MIRT1211207	hsa-miR-485-5p	CLIP-seq
MIRT1211208	hsa-miR-494	CLIP-seq
MIRT2060620	hsa-miR-513c	CLIP-seq
MIRT2060621	hsa-miR-514b-5p	CLIP-seq
MIRT2289292	hsa-miR-1287	CLIP-seq
MIRT2289293	hsa-miR-2117	CLIP-seq
MIRT2289294	hsa-miR-2467-3p	CLIP-seq
MIRT2289295	hsa-miR-3135b	CLIP-seq
MIRT2289296	hsa-miR-3187-3p	CLIP-seq
MIRT2289297	hsa-miR-3691-3p	CLIP-seq
MIRT2289298	hsa-miR-4435	CLIP-seq
MIRT2289299	hsa-miR-455-5p	CLIP-seq
MIRT2289300	hsa-miR-4638-3p	CLIP-seq
MIRT2289301	hsa-miR-4727-3p	CLIP-seq
MIRT2289302	hsa-miR-4729	CLIP-seq
MIRT2289303	hsa-miR-615-5p	CLIP-seq
MIRT2586997	hsa-let-7a	CLIP-seq
MIRT2586998	hsa-let-7b	CLIP-seq
MIRT2586999	hsa-let-7c	CLIP-seq
MIRT2587000	hsa-let-7d	CLIP-seq
MIRT2587001	hsa-let-7e	CLIP-seq
MIRT2587002	hsa-let-7f	CLIP-seq
MIRT2587003	hsa-let-7g	CLIP-seq
MIRT2587004	hsa-let-7i	CLIP-seq
MIRT2060618	hsa-miR-141	CLIP-seq
MIRT2060619	hsa-miR-200a	CLIP-seq
MIRT2587005	hsa-miR-3157-3p	CLIP-seq
MIRT2587006	hsa-miR-3679-3p	CLIP-seq
MIRT1211196	hsa-miR-377	CLIP-seq
MIRT2587007	hsa-miR-410	CLIP-seq
MIRT2289298	hsa-miR-4435	CLIP-seq
MIRT2587008	hsa-miR-4446-5p	CLIP-seq
MIRT2587009	hsa-miR-4458	CLIP-seq
MIRT2587010	hsa-miR-4459	CLIP-seq
MIRT2587011	hsa-miR-4487	CLIP-seq
MIRT2587012	hsa-miR-4500	CLIP-seq
MIRT2587013	hsa-miR-4520a-3p	CLIP-seq
MIRT2289299	hsa-miR-455-5p	CLIP-seq
MIRT2289300	hsa-miR-4638-3p	CLIP-seq
MIRT2587014	hsa-miR-4690-5p	CLIP-seq
MIRT2587015	hsa-miR-4722-5p	CLIP-seq
MIRT2289301	hsa-miR-4727-3p	CLIP-seq
MIRT2289302	hsa-miR-4729	CLIP-seq
MIRT1211204	hsa-miR-4731-3p	CLIP-seq
MIRT2587016	hsa-miR-4732-5p	CLIP-seq
MIRT2587017	hsa-miR-4797-3p	CLIP-seq
MIRT1211206	hsa-miR-4801	CLIP-seq
MIRT1211208	hsa-miR-494	CLIP-seq
MIRT1211209	hsa-miR-499-3p	CLIP-seq
MIRT1211210	hsa-miR-499a-3p	CLIP-seq
MIRT2060620	hsa-miR-513c	CLIP-seq
MIRT2060621	hsa-miR-514b-5p	CLIP-seq
MIRT2587018	hsa-miR-548aa	CLIP-seq
MIRT2587019	hsa-miR-548n	CLIP-seq
MIRT2587020	hsa-miR-548p	CLIP-seq
MIRT2587021	hsa-miR-548t	CLIP-seq
MIRT2587022	hsa-miR-552	CLIP-seq
MIRT2587023	hsa-miR-589	CLIP-seq
MIRT2289303	hsa-miR-615-5p	CLIP-seq
MIRT2587024	hsa-miR-642b	CLIP-seq
MIRT2587025	hsa-miR-7	CLIP-seq
MIRT2587026	hsa-miR-764	CLIP-seq
MIRT2587027	hsa-miR-98	CLIP-seq
MIRT1211196	hsa-miR-377	CLIP-seq
MIRT2587011	hsa-miR-4487	CLIP-seq
MIRT2587013	hsa-miR-4520a-3p	CLIP-seq
MIRT2289300	hsa-miR-4638-3p	CLIP-seq
MIRT1211204	hsa-miR-4731-3p	CLIP-seq
MIRT2587016	hsa-miR-4732-5p	CLIP-seq
MIRT1211206	hsa-miR-4801	CLIP-seq
MIRT1211208	hsa-miR-494	CLIP-seq
MIRT1211209	hsa-miR-499-3p	CLIP-seq
MIRT1211210	hsa-miR-499a-3p	CLIP-seq
MIRT2587022	hsa-miR-552	CLIP-seq
MIRT2587026	hsa-miR-764	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HLX	Unknown	22897850

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IDA	8805275
GO:0000166	Function	Nucleotide binding	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001726	Component	Ruffle	IDA	12912914
GO:0001726	Component	Ruffle	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0003824	Function	Catalytic activity	IEA
GO:0004672	Function	Protein kinase activity	IDA	8805275, 9852149
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	10559936, 11278486, 17060906
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	16278681, 17420447, 19667065, 20417602, 23260667
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	10026169, 10559936, 11030651, 11864573, 12606577, 12624090, 12879077, 14521508, 15350535, 16101281, 16278681, 16407834, 16413544, 16492808, 16628223, 17097642, 17245428, 17389360, 18325335, 18716323, 18854161, 19270716, 19435845, 19596003, 19693014, 19732720, 19893577, 20810653, 209
GO:0005518	Function	Collagen binding	IPI	12189148
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	23260667
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16278681, 23260667, 25766321
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IDA	9395435
GO:0005886	Component	Plasma membrane	IDA	16278681
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	12912914
GO:0005925	Component	Focal adhesion	IEA
GO:0006338	Process	Chromatin remodeling	IDA	23260667
GO:0006887	Process	Exocytosis	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IDA	23260667
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	23333386
GO:0009267	Process	Cellular response to starvation	IBA
GO:0010763	Process	Positive regulation of fibroblast migration	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IMP	27917469
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	IDA	9395435
GO:0030036	Process	Actin cytoskeleton organization	IMP	27917469
GO:0030036	Process	Actin cytoskeleton organization	IMP	16278681
GO:0030335	Process	Positive regulation of cell migration	IDA	25766321
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031116	Process	Positive regulation of microtubule polymerization	IMP	25198505
GO:0031267	Function	Small GTPase binding	IPI	11950598
GO:0031965	Component	Nuclear membrane	IEA
GO:0031965	Component	Nuclear membrane	ISS
GO:0032587	Component	Ruffle membrane	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IEA
GO:0032991	Component	Protein-containing complex	IDA	11864573, 11950598
GO:0033148	Process	Positive regulation of intracellular estrogen receptor signaling pathway	IDA	16278681
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0042060	Process	Wound healing	IMP	12912914
GO:0042802	Function	Identical protein binding	IPI	17389360, 22153498
GO:0042995	Component	Cell projection	IEA
GO:0043015	Function	Gamma-tubulin binding	IDA	27012601
GO:0043408	Process	Regulation of MAPK cascade	IBA
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0046628	Process	Positive regulation of insulin receptor signaling pathway	IEA
GO:0048012	Process	Hepatocyte growth factor receptor signaling pathway	IMP	25198505
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IMP	20457839
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0050770	Process	Regulation of axonogenesis	IBA
GO:0051496	Process	Positive regulation of stress fiber assembly	IMP	11864573
GO:0060244	Process	Negative regulation of cell proliferation involved in contact inhibition	IMP	12912914
GO:0061052	Process	Negative regulation of cell growth involved in cardiac muscle cell development	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0090063	Process	Positive regulation of microtubule nucleation	IMP	27012601
GO:0090314	Process	Positive regulation of protein targeting to membrane	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0110053	Process	Regulation of actin filament organization	IEA
GO:1903608	Process	Protein localization to cytoplasmic stress granule	IDA	20417602
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IEA

Other IDs

• MIM: 602590
• HGNC: 8590
• e!Ensembl: ENSG00000149269

Protein

• UniProt ID: Q13153
• Protein name: Serine/threonine-protein kinase PAK 1 (EC 2.7.11.1) (Alpha-PAK) (p21-activated kinase 1) (PAK-1) (p65-PAK)
• Protein function: Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-m
• PDB: 1F3M, 1YHV, 1YHW, 1ZSG, 2HY8, 2QME, 3DVP, 3FXZ, 3FY0, 3Q4Z, 3Q52, 3Q53, 4DAW, 4EQC, 4O0R, 4O0T, 4P90, 4ZJI, 4ZJJ, 4ZLO, 4ZY4, 4ZY5, 4ZY6, 5DEW, 5DEY, 5DFP, 5IME, 5KBQ, 5KBR, 6B16, 7VTO, 8X5Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00786	PBD	74 → 132	P21-Rho-binding domain	Domain
  PF00069	Pkinase	270 → 521	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Overexpressed in gastric cancer cells and tissues (at protein level) (PubMed:25766321). {ECO:0000269|PubMed:25766321}.
• Sequence:

  MSNNGLDIQDKPPAPPMRNTSTMIGAGSKDAGTLNHGSKPLPPNPEEKKKKDRFYRSILP
  GDKTNKKKEKERPEISLPSDFEHTIHVGFDAVTGEFTGMPEQWARLLQTSNITKSEQKKN
  PQAVLDVLEFYNSKKTSNSQKYMSFTDKSAEDYNSSNALNVKAVSETPAVPPVSEDEDDD
  DDDATPPPVIAPRPEHTKSVYTRSVIEPLPVTPTRDVATSPISPTENNTTPPDALTRNTE
  KQKKKPKMSDEEILEKLRSIVSVGDPKKKYTRFEKIGQGASGTVYTAMDVATGQEVAIKQ
  MNLQQQPKKELIINEILVMRENKNPNIVNYLDSYLVGDELWVVMEYLAGGSLTDVVTETC
  MDEGQIAAVCRECLQALEFLHSNQVIHRDIKSDNILLGMDGSVKLTDFGFCAQITPEQSK
  RSTMVGTPYWMAPEVVTRKAYGPKVDIWSLGIMAIEMIEGEPPYLNENPLRALYLIATNG
  TPELQNPEKLSAIFRDFLNRCLEMDVEKRGSAKELLQHQFLKIAKPLSSLTPLIAAAKEA
  TKNNH

• Sequence length: 545

Pathways

KEGG:

MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Axon guidance
Hippo signaling pathway - multiple species
Focal adhesion
C-type lectin receptor signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Salmonella infection
Human immunodeficiency virus 1 infection
Proteoglycans in cancer
Renal cell carcinoma

Reactome:

Generation of second messenger molecules
Regulation of actin dynamics for phagocytic cup formation
FCERI mediated MAPK activation
DSCAM interactions
CD28 dependent Vav1 pathway
EPHB-mediated forward signaling
Ephrin signaling
Sema3A PAK dependent Axon repulsion
Signal transduction by L1
Smooth Muscle Contraction
VEGFR2 mediated vascular permeability
CD209 (DC-SIGN) signaling
RHO GTPases activate PAKs
MAPK6/MAPK4 signaling
G beta:gamma signalling through CDC42

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Pathogenic; Likely pathogenic	rs2137081759, rs2137081530, rs2137082293, rs2137082609, rs2137081192, rs2136123010, rs769079461, rs1942648391, rs2540107719, rs2539862950, rs1483962098, rs2540830299, rs1565638316, rs1565583382, rs1591695781, rs1949519149, rs1949512290	RCV001528115 RCV001785338 RCV001785346 RCV001785353 RCV002249119 RCV002275730 RCV002291200 RCV003148379 RCV003236753 RCV003236754 RCV003236755 RCV003236756 RCV000714509 RCV000714510 RCV000995827 RCV005866894 RCV001262617 RCV002491872
PAK1-related disorder	Likely pathogenic; Pathogenic	rs2540813559, rs2540830069, rs1949519149	RCV003983429 RCV003941528 RCV003399021
PAK1-related neurodevelopmental disorders	Pathogenic	rs1949519149	RCV001249699
See cases	Likely pathogenic; Pathogenic	rs1591695781	RCV002287454

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs1130059	RCV005938606
Adrenocortical carcinoma, hereditary	Benign	rs1130059	RCV005938610
Cervical cancer	Benign	rs1130059	RCV005938611
Clear cell carcinoma of kidney	Benign	rs1130059	RCV005938612
Colon adenocarcinoma	Uncertain significance; Benign	rs114048423, rs1130059	RCV005933021 RCV005938605
Colorectal cancer	Benign	rs1130059	RCV005938613
Gastric cancer	Benign	rs1130059	RCV005938615
Hepatocellular carcinoma	Benign	rs1130059	RCV005938607
Lung cancer	Benign	rs1130059	RCV005938621
Malignant tumor of esophagus	Uncertain significance; Benign	rs114048423, rs1130059	RCV005933022 RCV005938608
Melanoma	Benign	rs1130059	RCV005938620
Neurodevelopmental disorder	Uncertain significance	rs1949601904	RCV003389217
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	Uncertain significance	rs1944009387	RCV003338105
Nonpapillary renal cell carcinoma	Benign	rs1130059	RCV005938609
Ovarian serous cystadenocarcinoma	Benign	rs1130059	RCV005938616
Sarcoma	Benign	rs1130059	RCV005938614
Thymoma	Benign	rs1130059	RCV005938618
Thyroid cancer, nonmedullary, 1	Benign	rs1130059	RCV005938619
Uterine carcinosarcoma	Benign	rs1130059	RCV005938617
Uterine corpus endometrial carcinoma	Benign	rs1130059	RCV005938622

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Stimulate	24236193
Adenomatous Polyps	Stimulate	26423403
Adenomyosis	Stimulate	20079895
Alopecia	Associate	28098826
Anemia Hemolytic	Associate	26466379
Asthma	Associate	35606385
Autistic Disorder	Associate	31504246
Brain Diseases	Associate	33945512
Breast Neoplasms	Associate	10766836, 10945974, 12151336, 15178330, 16026643, 18283314, 18392133, 18411304, 18922890, 19317917, 21209852, 22105362, 23289893, 23339187, 23361053, 25182632, 25902869, 27251275, 31516713, 31987914, 36077333, 36443711, 37368917, 9774445
Carcinogenesis	Associate	25569743, 25902869, 26377044, 26884861, 27229476, 28186966, 32186433, 36443711
Carcinoma Endometrioid	Stimulate	26218748
Carcinoma Hepatocellular	Associate	23516476, 24347489, 30543848, 36675278, 37537668
Carcinoma Non Small Cell Lung	Associate	22848689, 25956913, 27713506, 30955235, 33261184
Carcinoma Non Small Cell Lung	Stimulate	35500159
Carcinoma Pancreatic Ductal	Associate	27321183
Carcinoma Small Cell	Associate	26023713
Cholangiocarcinoma	Associate	34799729
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Associate	25902869
Colitis Associated Neoplasms	Associate	25569743
Colonic Neoplasms	Associate	26423403
Colorectal Neoplasms	Associate	20595063, 23233484, 25174975, 25182632, 25409929, 26884861
Colorectal Neoplasms	Stimulate	26423403
COVID 19	Stimulate	33950285
Cysts	Associate	21722895
Developmental Disabilities	Associate	30290153, 36624491
Diabetes Gestational	Associate	33890634
DNA Virus Infections	Associate	22971344
Down Syndrome	Associate	33945512, 35301086
Drug Related Side Effects and Adverse Reactions	Associate	31516713
Endometrial Neoplasms	Stimulate	26218748
Endometriosis	Associate	20079895
Fibrosis	Associate	37967011
Gait Ataxia	Associate	30290153
Glioblastoma	Associate	30705404
Glioblastoma	Stimulate	32186433
Glioma	Associate	40715243
Hepatitis Autoimmune	Stimulate	26986756
Hereditary Breast and Ovarian Cancer Syndrome	Associate	27427770
HIV Infections	Inhibit	15574879
HIV Infections	Associate	16352537
Hydrocephalus	Associate	31504246
Hypoxia	Associate	32186433
Infections	Stimulate	21881052
Inflammatory Bowel Diseases	Associate	25569743
Inflammatory Breast Neoplasms	Associate	23280128
Intellectual Disability	Associate	31504246, 36624491
Language Development Disorders	Associate	36624491
Leukemia Lymphocytic Chronic B Cell	Associate	36478132
Leukemia Myeloid Acute	Associate	34536536
Leukemia Prolymphocytic T Cell	Associate	35811334
Liver Cirrhosis	Associate	37967011
Lung Neoplasms	Associate	26377044, 33261184
Lymphatic Metastasis	Associate	20426825, 20591216
Lymphatic Metastasis	Stimulate	23298303, 24236193, 25412958, 26023713
Lymphoma	Associate	23300274
Lymphoma T Cell Cutaneous	Associate	31304555
Megalencephaly	Associate	30290153, 31504246, 36624491
Melanoma	Associate	15066181, 22971344, 28373299, 30657954, 31516713, 33067454
Melanoma Cutaneous Malignant	Associate	28373299
Meningioma	Associate	26219339
Mouth Neoplasms	Stimulate	27229476
Neoplasm Invasiveness	Associate	20426825
Neoplasm Metastasis	Associate	20591216, 23298303, 23516476, 24236193, 24347489, 25766321, 26023713, 28186966, 29099290, 36054930
Neoplasms	Associate	12937139, 15193260, 16026643, 18411304, 18922890, 20426825, 20591216, 22105362, 22130069, 22869096, 23516476, 24236193, 25182632, 25956913, 26023713, 26377044, 27427770, 27672107, 28052407, 28098826, 28186966, 28423593, 28747658, 29099290, 29415725, 30773850, 31516713, 33261184, 35811334, 37368917, 38188678, 38569978
Neoplasms	Stimulate	25412958
Neurofibromatosis Noonan syndrome	Associate	30290153
Oncogene Addiction	Associate	29133945
Ovarian Neoplasms	Associate	12937139, 29099290
Ovarian Neoplasms	Stimulate	27427770
Pancreatic Neoplasms	Associate	25182632, 25409929
Papilloma	Associate	20131316
Parkinson Disease	Associate	35563596
Polyps	Associate	26423403
Prostatic Neoplasms	Associate	28186966, 31516713
Prostatitis	Associate	31516713
Retinal Dysplasia	Associate	23298303
Rhabdomyosarcoma	Associate	20956521
Seizures	Associate	30290153, 31504246, 36624491
Seizures Febrile	Associate	31504246
Squamous Cell Carcinoma of Head and Neck	Associate	27229476, 28535002
Stomach Diseases	Associate	30773850
Stomach Neoplasms	Associate	19448398, 20331625, 20591216, 23298303, 25182632, 25766321, 26379399, 30773850, 37225681
Thyroid Cancer Papillary	Associate	20817787
Thyroid Neoplasms	Associate	20817787, 23709653
Triple Negative Breast Neoplasms	Associate	33321758
Urinary Bladder Neoplasms	Associate	25412958
VACTERL association	Associate	37328543