PAK1 (p21 (RAC1) activated kinase 1)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

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 Show/Hide all (139)

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) Show/Hide all (100)

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 Pathway	Reactome Pathway
MAPK signaling pathway	Generation of second messenger molecules
ErbB signaling pathway	Regulation of actin dynamics for phagocytic cup formation
Ras signaling pathway	FCERI mediated MAPK activation
cAMP signaling pathway	DSCAM interactions
Chemokine signaling pathway	CD28 dependent Vav1 pathway
Axon guidance	EPHB-mediated forward signaling
Hippo signaling pathway - multiple species	Ephrin signaling
Focal adhesion	Sema3A PAK dependent Axon repulsion
C-type lectin receptor signaling pathway	Signal transduction by L1
Natural killer cell mediated cytotoxicity	Smooth Muscle Contraction
T cell receptor signaling pathway	VEGFR2 mediated vascular permeability
Fc gamma R-mediated phagocytosis	CD209 (DC-SIGN) signaling
Regulation of actin cytoskeleton	RHO GTPases activate PAKs
Epithelial cell signaling in Helicobacter pylori infection	MAPK6/MAPK4 signaling
Pathogenic Escherichia coli infection	G beta:gamma signalling through CDC42
Salmonella infection
Human immunodeficiency virus 1 infection
Proteoglycans in cancer
Renal cell carcinoma

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
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAK1-related disorder	Likely pathogenic; Pathogenic	rs2540813559, rs2540830069, rs1949519149	RCV003983429 RCV003941528 RCV003399021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAK1-related neurodevelopmental disorders	Pathogenic	rs1949519149	RCV001249699	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (29)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	38184787	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	20179234	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	17621631	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	30093612	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	30290153	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	22419666	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	20071462	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	35066776	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CTSB 2 shared diseasesRenal cell carcinoma, Proteinuria 2 shared evidence sourcesCTD (Renal cell carcinoma), CTD (Proteinuria) Related via 2 shared diseases including Renal cell carcinoma, Proteinuria — evidence mostly CTD. PAK2 1 shared diseaseProteinuria 20 shared pathwaysMAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Axon guidance, Focal adhesion, T cell receptor signaling pathway, Regulation of actin cytoskeleton, Pathogenic Escherichia coli infection, Human immunodeficiency virus 1 infection, Renal cell carcinoma, VEGFR2 mediated vascular permeability, Smooth Muscle Contraction +8 more 1 shared evidence sourceCTD (Proteinuria) Related via 20 shared pathways including MAPK signaling pathway, ErbB signaling pathway — evidence mostly CTD. PAK3 18 shared pathwaysErbB signaling pathway, Ras signaling pathway, Axon guidance, Focal adhesion, T cell receptor signaling pathway, Regulation of actin cytoskeleton, Pathogenic Escherichia coli infection, Salmonella infection, Human immunodeficiency virus 1 infection, Renal cell carcinoma, VEGFR2 mediated vascular permeability, MAPK6/MAPK4 signaling +6 more Related via 18 shared pathways including ErbB signaling pathway, Ras signaling pathway. SSPN 2 shared diseasesEndometrial cancer, Orofacial cleft 2 shared evidence sourcesGWAS catalog (Endometrial cancer), GWAS catalog (Orofacial cleft) Related via 2 shared diseases including Endometrial cancer, Orofacial cleft — evidence mostly GWAS catalog. NAV3 2 shared diseasesRenal cell carcinoma, Endometrial cancer 2 shared evidence sourcesCTD (Renal cell carcinoma), GWAS catalog (Endometrial cancer) Related via 2 shared diseases including Renal cell carcinoma, Endometrial cancer — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CTSB	2	["Renal cell carcinoma","Proteinuria"]	0	[]	2	["CTD (Renal cell carcinoma)","CTD (Proteinuria)"]
PAK2	1	["Proteinuria"]	20	["MAPK signaling pathway","ErbB signaling pathway","Ras signaling pathway","Axon guidance","Focal adhesion","T cell receptor signaling pathway","Regulation of actin cytoskeleton","Pathogenic Escherichia coli infection","Human immunodeficiency virus 1 infection","Renal cell carcinoma","VEGFR2 mediated vascular permeability","Smooth Muscle Contraction"]	1	["CTD (Proteinuria)"]
PAK3	0	[]	18	["ErbB signaling pathway","Ras signaling pathway","Axon guidance","Focal adhesion","T cell receptor signaling pathway","Regulation of actin cytoskeleton","Pathogenic Escherichia coli infection","Salmonella infection","Human immunodeficiency virus 1 infection","Renal cell carcinoma","VEGFR2 mediated vascular permeability","MAPK6\/MAPK4 signaling"]	0	[]
SSPN	2	["Endometrial cancer","Orofacial cleft"]	0	[]	2	["GWAS catalog (Endometrial cancer)","GWAS catalog (Orofacial cleft)"]
NAV3	2	["Renal cell carcinoma","Endometrial cancer"]	0	[]	2	["CTD (Renal cell carcinoma)","GWAS catalog (Endometrial cancer)"]

Diseases Linked via Similar Genes

Metabolic syndrome Linked via 2 of 5 related genesCTSB, SSPN Diabetes mellitus type 2 Linked via 2 of 5 related genesCTSB, SSPN Atrial fibrillation Linked via 2 of 5 related genesPAK2, SSPN Non-specific syndromic intellectual disability Linked via 2 of 5 related genesPAK3, NAV3 Endometrial neoplasms Linked via 2 of 5 related genesSSPN, NAV3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Metabolic syndrome	2	["CTSB","SSPN"]
Diabetes mellitus type 2	2	["CTSB","SSPN"]
Atrial fibrillation	2	["PAK2","SSPN"]
Non-specific syndromic intellectual disability	2	["PAK3","NAV3"]
Endometrial neoplasms	2	["SSPN","NAV3"]