MAPK10 (mitogen-activated protein kinase 10)

Gene

• Entrez ID: 5602
• Gene name: Mitogen-activated protein kinase 10
• Gene symbol: MAPK10
• Synonyms (NCBI Gene): JNK3, JNK3A, PRKM10, SAPK1b, p493F12, p54bSAPK
• Chromosome: 4
• Chromosome location: 4q21.3
• Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcrip

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053727	hsa-miR-221-3p	Microarray	22942087
MIRT667467	hsa-miR-3617-5p	HITS-CLIP	23824327
MIRT667466	hsa-miR-641	HITS-CLIP	23824327
MIRT607689	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT667465	hsa-miR-3152-3p	HITS-CLIP	23824327
MIRT667464	hsa-miR-208a-3p	HITS-CLIP	23824327
MIRT667463	hsa-miR-208b-3p	HITS-CLIP	23824327
MIRT667462	hsa-miR-499a-5p	HITS-CLIP	23824327
MIRT607691	hsa-miR-4455	HITS-CLIP	23824327
MIRT607680	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607697	hsa-miR-5002-5p	HITS-CLIP	24906430
MIRT607696	hsa-miR-342-5p	HITS-CLIP	24906430
MIRT607695	hsa-miR-4664-5p	HITS-CLIP	24906430
MIRT607694	hsa-miR-4651	HITS-CLIP	24906430
MIRT607693	hsa-miR-608	HITS-CLIP	24906430
MIRT607692	hsa-miR-6747-5p	HITS-CLIP	24906430
MIRT607691	hsa-miR-4455	HITS-CLIP	24906430
MIRT607690	hsa-miR-3650	HITS-CLIP	24906430
MIRT607689	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607688	hsa-miR-6737-5p	HITS-CLIP	24906430
MIRT607687	hsa-miR-6812-5p	HITS-CLIP	24906430
MIRT607686	hsa-miR-6819-5p	HITS-CLIP	24906430
MIRT607685	hsa-miR-3170	HITS-CLIP	24906430
MIRT607684	hsa-miR-6855-5p	HITS-CLIP	24906430
MIRT607683	hsa-miR-450a-2-3p	HITS-CLIP	24906430
MIRT607682	hsa-miR-4260	HITS-CLIP	24906430
MIRT607681	hsa-miR-5572	HITS-CLIP	24906430
MIRT607680	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT667464	hsa-miR-208a-3p	HITS-CLIP	27418678
MIRT667463	hsa-miR-208b-3p	HITS-CLIP	27418678
MIRT667465	hsa-miR-3152-3p	HITS-CLIP	27418678
MIRT667465	hsa-miR-3152-3p	HITS-CLIP	27418678
MIRT667465	hsa-miR-3152-3p	HITS-CLIP	27418678
MIRT607685	hsa-miR-3170	HITS-CLIP	27418678
MIRT607685	hsa-miR-3170	HITS-CLIP	27418678
MIRT607696	hsa-miR-342-5p	HITS-CLIP	27418678
MIRT607696	hsa-miR-342-5p	HITS-CLIP	27418678
MIRT667467	hsa-miR-3617-5p	HITS-CLIP	27418678
MIRT607690	hsa-miR-3650	HITS-CLIP	27418678
MIRT607690	hsa-miR-3650	HITS-CLIP	27418678
MIRT607682	hsa-miR-4260	HITS-CLIP	27418678
MIRT607682	hsa-miR-4260	HITS-CLIP	27418678
MIRT607691	hsa-miR-4455	HITS-CLIP	27418678
MIRT607691	hsa-miR-4455	HITS-CLIP	27418678
MIRT607691	hsa-miR-4455	HITS-CLIP	27418678
MIRT607683	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT607683	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT607694	hsa-miR-4651	HITS-CLIP	27418678
MIRT607694	hsa-miR-4651	HITS-CLIP	27418678
MIRT607695	hsa-miR-4664-5p	HITS-CLIP	27418678
MIRT607695	hsa-miR-4664-5p	HITS-CLIP	27418678
MIRT667462	hsa-miR-499a-5p	HITS-CLIP	27418678
MIRT607697	hsa-miR-5002-5p	HITS-CLIP	27418678
MIRT607697	hsa-miR-5002-5p	HITS-CLIP	27418678
MIRT607681	hsa-miR-5572	HITS-CLIP	27418678
MIRT607681	hsa-miR-5572	HITS-CLIP	27418678
MIRT607680	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607680	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607680	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607693	hsa-miR-608	HITS-CLIP	27418678
MIRT607693	hsa-miR-608	HITS-CLIP	27418678
MIRT667466	hsa-miR-641	HITS-CLIP	27418678
MIRT607688	hsa-miR-6737-5p	HITS-CLIP	27418678
MIRT607688	hsa-miR-6737-5p	HITS-CLIP	27418678
MIRT607692	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607692	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607687	hsa-miR-6812-5p	HITS-CLIP	27418678
MIRT607687	hsa-miR-6812-5p	HITS-CLIP	27418678
MIRT607686	hsa-miR-6819-5p	HITS-CLIP	27418678
MIRT607686	hsa-miR-6819-5p	HITS-CLIP	27418678
MIRT607684	hsa-miR-6855-5p	HITS-CLIP	27418678
MIRT607684	hsa-miR-6855-5p	HITS-CLIP	27418678
MIRT607689	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607689	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607689	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT733960	hsa-miR-205-3p	Luciferase reporter assay, Western blotting	32046433
MIRT667467	hsa-miR-3617-5p	HITS-CLIP	23824327
MIRT667466	hsa-miR-641	HITS-CLIP	23824327
MIRT607689	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT667465	hsa-miR-3152-3p	HITS-CLIP	23824327
MIRT667464	hsa-miR-208a-3p	HITS-CLIP	23824327
MIRT667463	hsa-miR-208b-3p	HITS-CLIP	23824327
MIRT667462	hsa-miR-499a-5p	HITS-CLIP	23824327
MIRT607691	hsa-miR-4455	HITS-CLIP	23824327
MIRT607680	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT1130045	hsa-miR-124	CLIP-seq
MIRT1130046	hsa-miR-2682	CLIP-seq
MIRT1130047	hsa-miR-3714	CLIP-seq
MIRT1130048	hsa-miR-3910	CLIP-seq
MIRT1130049	hsa-miR-4328	CLIP-seq
MIRT1130050	hsa-miR-4477b	CLIP-seq
MIRT1130051	hsa-miR-449c	CLIP-seq
MIRT1130052	hsa-miR-4795-3p	CLIP-seq
MIRT1130053	hsa-miR-506	CLIP-seq
MIRT1130054	hsa-miR-197	CLIP-seq
MIRT1130055	hsa-miR-3977	CLIP-seq
MIRT1130056	hsa-miR-412	CLIP-seq
MIRT1130057	hsa-miR-4252	CLIP-seq
MIRT1130058	hsa-miR-4722-3p	CLIP-seq
MIRT1130059	hsa-miR-1256	CLIP-seq
MIRT738743	hsa-miR-1273g	CLIP-seq
MIRT738741	hsa-miR-1275	CLIP-seq
MIRT738745	hsa-miR-342-3p	CLIP-seq
MIRT1130060	hsa-miR-3942-3p	CLIP-seq
MIRT738744	hsa-miR-4318	CLIP-seq
MIRT1130049	hsa-miR-4328	CLIP-seq
MIRT738742	hsa-miR-4665-5p	CLIP-seq
MIRT1130061	hsa-miR-4720-5p	CLIP-seq
MIRT1130062	hsa-miR-4799-3p	CLIP-seq
MIRT738743	hsa-miR-1273g	CLIP-seq
MIRT738741	hsa-miR-1275	CLIP-seq
MIRT738745	hsa-miR-342-3p	CLIP-seq
MIRT738744	hsa-miR-4318	CLIP-seq
MIRT738742	hsa-miR-4665-5p	CLIP-seq
MIRT2037034	hsa-miR-562	CLIP-seq
MIRT2267079	hsa-miR-1197	CLIP-seq
MIRT2267080	hsa-miR-1224-5p	CLIP-seq
MIRT2267081	hsa-miR-1233	CLIP-seq
MIRT2267082	hsa-miR-125a-5p	CLIP-seq
MIRT2267083	hsa-miR-125b	CLIP-seq
MIRT2267084	hsa-miR-193a-3p	CLIP-seq
MIRT2267085	hsa-miR-193b	CLIP-seq
MIRT2267086	hsa-miR-2052	CLIP-seq
MIRT2267087	hsa-miR-21	CLIP-seq
MIRT2267088	hsa-miR-2110	CLIP-seq
MIRT2267089	hsa-miR-3128	CLIP-seq
MIRT2267090	hsa-miR-3137	CLIP-seq
MIRT2267091	hsa-miR-3150a-3p	CLIP-seq
MIRT2267092	hsa-miR-3185	CLIP-seq
MIRT2267093	hsa-miR-3194-3p	CLIP-seq
MIRT2267094	hsa-miR-3529	CLIP-seq
MIRT2267095	hsa-miR-3660	CLIP-seq
MIRT2267096	hsa-miR-3686	CLIP-seq
MIRT2267097	hsa-miR-379	CLIP-seq
MIRT2267098	hsa-miR-4319	CLIP-seq
MIRT2267099	hsa-miR-4450	CLIP-seq
MIRT2267100	hsa-miR-4451	CLIP-seq
MIRT2267101	hsa-miR-4526	CLIP-seq
MIRT2267102	hsa-miR-4643	CLIP-seq
MIRT2267103	hsa-miR-4645-3p	CLIP-seq
MIRT2267104	hsa-miR-4650-3p	CLIP-seq
MIRT2267105	hsa-miR-4732-5p	CLIP-seq
MIRT2267106	hsa-miR-4751	CLIP-seq
MIRT2267107	hsa-miR-544b	CLIP-seq
MIRT2267108	hsa-miR-590-5p	CLIP-seq
MIRT2267109	hsa-miR-629	CLIP-seq
MIRT2267110	hsa-miR-642b	CLIP-seq
MIRT2267111	hsa-miR-656	CLIP-seq
MIRT2267112	hsa-miR-892b	CLIP-seq
MIRT738743	hsa-miR-1273g	CLIP-seq
MIRT738741	hsa-miR-1275	CLIP-seq
MIRT738745	hsa-miR-342-3p	CLIP-seq
MIRT738744	hsa-miR-4318	CLIP-seq
MIRT738742	hsa-miR-4665-5p	CLIP-seq
MIRT2453701	hsa-miR-2113	CLIP-seq
MIRT2453702	hsa-miR-3926	CLIP-seq
MIRT2453703	hsa-miR-4493	CLIP-seq
MIRT2453704	hsa-miR-4753-5p	CLIP-seq
MIRT2453705	hsa-miR-550a	CLIP-seq
MIRT2566944	hsa-miR-1193	CLIP-seq
MIRT2566945	hsa-miR-1228	CLIP-seq
MIRT2566946	hsa-miR-1287	CLIP-seq
MIRT2566947	hsa-miR-1301	CLIP-seq
MIRT2566948	hsa-miR-3135b	CLIP-seq
MIRT2566949	hsa-miR-3148	CLIP-seq
MIRT2566950	hsa-miR-3160-5p	CLIP-seq
MIRT2566951	hsa-miR-345	CLIP-seq
MIRT2566952	hsa-miR-3675-3p	CLIP-seq
MIRT2566953	hsa-miR-3675-5p	CLIP-seq
MIRT2566954	hsa-miR-3688-3p	CLIP-seq
MIRT2566955	hsa-miR-3920	CLIP-seq
MIRT2566956	hsa-miR-3927	CLIP-seq
MIRT1130057	hsa-miR-4252	CLIP-seq
MIRT2566957	hsa-miR-4282	CLIP-seq
MIRT2566958	hsa-miR-4436b-3p	CLIP-seq
MIRT2566959	hsa-miR-4473	CLIP-seq
MIRT2566960	hsa-miR-450b-5p	CLIP-seq
MIRT2267102	hsa-miR-4643	CLIP-seq
MIRT2267103	hsa-miR-4645-3p	CLIP-seq
MIRT2566961	hsa-miR-4684-5p	CLIP-seq
MIRT2566962	hsa-miR-4696	CLIP-seq
MIRT2566963	hsa-miR-4711-3p	CLIP-seq
MIRT2566964	hsa-miR-4717-5p	CLIP-seq
MIRT2566965	hsa-miR-4718	CLIP-seq
MIRT2566966	hsa-miR-4735-5p	CLIP-seq
MIRT2566967	hsa-miR-4742-3p	CLIP-seq
MIRT2566968	hsa-miR-5047	CLIP-seq
MIRT2566969	hsa-miR-507	CLIP-seq
MIRT2566970	hsa-miR-5095	CLIP-seq
MIRT2566971	hsa-miR-512-3p	CLIP-seq
MIRT2566972	hsa-miR-520f	CLIP-seq
MIRT2566973	hsa-miR-552	CLIP-seq
MIRT2566974	hsa-miR-557	CLIP-seq
MIRT2037034	hsa-miR-562	CLIP-seq
MIRT2566975	hsa-miR-592	CLIP-seq
MIRT2566976	hsa-miR-599	CLIP-seq
MIRT2267110	hsa-miR-642b	CLIP-seq
MIRT2566977	hsa-miR-935	CLIP-seq
MIRT2566978	hsa-miR-942	CLIP-seq
MIRT2566944	hsa-miR-1193	CLIP-seq
MIRT2566945	hsa-miR-1228	CLIP-seq
MIRT2566946	hsa-miR-1287	CLIP-seq
MIRT2566947	hsa-miR-1301	CLIP-seq
MIRT2566948	hsa-miR-3135b	CLIP-seq
MIRT2566949	hsa-miR-3148	CLIP-seq
MIRT2566951	hsa-miR-345	CLIP-seq
MIRT2566952	hsa-miR-3675-3p	CLIP-seq
MIRT2566953	hsa-miR-3675-5p	CLIP-seq
MIRT2566954	hsa-miR-3688-3p	CLIP-seq
MIRT2684570	hsa-miR-377	CLIP-seq
MIRT2453702	hsa-miR-3926	CLIP-seq
MIRT2566956	hsa-miR-3927	CLIP-seq
MIRT2684571	hsa-miR-3976	CLIP-seq
MIRT1130057	hsa-miR-4252	CLIP-seq
MIRT2566957	hsa-miR-4282	CLIP-seq
MIRT2684572	hsa-miR-4297	CLIP-seq
MIRT2684573	hsa-miR-4432	CLIP-seq
MIRT2566958	hsa-miR-4436b-3p	CLIP-seq
MIRT2566959	hsa-miR-4473	CLIP-seq
MIRT2453703	hsa-miR-4493	CLIP-seq
MIRT2566960	hsa-miR-450b-5p	CLIP-seq
MIRT2267102	hsa-miR-4643	CLIP-seq
MIRT2267103	hsa-miR-4645-3p	CLIP-seq
MIRT2684574	hsa-miR-4662a-3p	CLIP-seq
MIRT2566961	hsa-miR-4684-5p	CLIP-seq
MIRT2566962	hsa-miR-4696	CLIP-seq
MIRT2566963	hsa-miR-4711-3p	CLIP-seq
MIRT2566964	hsa-miR-4717-5p	CLIP-seq
MIRT2566965	hsa-miR-4718	CLIP-seq
MIRT2566966	hsa-miR-4735-5p	CLIP-seq
MIRT2566967	hsa-miR-4742-3p	CLIP-seq
MIRT2453704	hsa-miR-4753-5p	CLIP-seq
MIRT2566968	hsa-miR-5047	CLIP-seq
MIRT2566969	hsa-miR-507	CLIP-seq
MIRT2566970	hsa-miR-5095	CLIP-seq
MIRT2566971	hsa-miR-512-3p	CLIP-seq
MIRT2566972	hsa-miR-520f	CLIP-seq
MIRT2684575	hsa-miR-548u	CLIP-seq
MIRT2566973	hsa-miR-552	CLIP-seq
MIRT2566974	hsa-miR-557	CLIP-seq
MIRT2037034	hsa-miR-562	CLIP-seq
MIRT2566975	hsa-miR-592	CLIP-seq
MIRT2566976	hsa-miR-599	CLIP-seq
MIRT2267110	hsa-miR-642b	CLIP-seq
MIRT2566977	hsa-miR-935	CLIP-seq
MIRT2566978	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004705	Function	JUN kinase activity	IBA	21873635
GO:0004705	Function	JUN kinase activity	ISS	8654373
GO:0004707	Function	MAP kinase activity	IBA	21873635
GO:0004708	Function	MAP kinase kinase activity	TAS	7826642
GO:0005515	Function	Protein binding	IPI	19294699, 19527717, 19782076, 19879840, 21988832, 22327296
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	ISS
GO:0006468	Process	Protein phosphorylation	IMP	22441692
GO:0006468	Process	Protein phosphorylation	ISS
GO:0007165	Process	Signal transduction	TAS	8654373
GO:0007254	Process	JNK cascade	IBA	21873635
GO:0007254	Process	JNK cascade	ISS	8654373
GO:0007254	Process	JNK cascade	TAS
GO:0007258	Process	JUN phosphorylation	IEA
GO:0009416	Process	Response to light stimulus	ISS
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0048511	Process	Rhythmic process	IEA
GO:0051090	Process	Regulation of DNA-binding transcription factor activity	TAS

Other IDs

• MIM: 602897
• HGNC: 6872
• e!Ensembl: ENSG00000109339

Protein

• UniProt ID: P53779
• Protein name: Mitogen-activated protein kinase 10 (MAP kinase 10) (MAPK 10) (EC 2.7.11.24) (MAP kinase p49 3F12) (Stress-activated protein kinase 1b) (SAPK1b) (Stress-activated protein kinase JNK3) (c-Jun N-terminal kinase 3)
• Protein function: Serine/threonine-protein kinase involved in various processes such as neuronal proliferation, differentiation, migration and programmed cell death. Extracellular stimuli such as pro-inflammatory cytokines or physical stress stimulate the stress-
• PDB: 1JNK, 1PMN, 1PMU, 1PMV, 2B1P, 2EXC, 2O0U, 2O2U, 2OK1, 2P33, 2R9S, 2WAJ, 2ZDT, 2ZDU, 3CGF, 3CGO, 3DA6, 3FI2, 3FI3, 3FV8, 3G90, 3G9L, 3G9N, 3KVX, 3OXI, 3OY1, 3PTG, 3RTP, 3TTI, 3TTJ, 3V6R, 3V6S, 4H36, 4H39, 4H3B, 4KKE, 4KKG, 4KKH, 4U79, 4W4V, 4W4W, 4W4X, 4W4Y, 4WHZ, 4X21, 4Y46, 4Y5H, 4Z9L, 6EKD, 6EMH, 6EQ9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	64 → 359	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Specific to a subset of neurons in the nervous system. Present in the hippocampus and areas, cerebellum, striatum, brain stem, and weakly in the spinal cord. Very weak expression in testis and kidney.
• Sequence:

  MSLHFLYYCSEPTLDVKIAFCQGFDKQVDVSYIAKHYNMSKSKVDNQFYSVEVGDSTFTV
  LKRYQNLKPIGSGAQGIVCAAYDAVLDRNVAIKKLSRPFQNQTHAKRAYRELVLMKCVNH
  KNIISLLNVFTPQKTLEEFQDVYLVMELMDANLCQVIQMELDHERMSYLLYQMLCGIKHL
  HSAGIIHRDLKPSNIVVKSDCTLKILDFGLARTAGTSFMMTPYVVTRYYRAPEVILGMGY
  KENVDIWSVGCIMGEMVRHKILFPGRDYIDQWNKVIEQLGTPCPEFMKKLQPTVRNYVEN
  RPKYAGLTFPKLFPDSLFPADSEHNKLKASQARDLLSKMLVIDPAKRISVDDALQHPYIN
  VWYDPAEVEAPPPQIYDKQLDEREHTIEEWKELIYKEVMNSEEKTKNGVVKGQPSPSGAA
  VNSSESLPPSSSVNDISSMSTDQTLASDTDSSLEASAGPLGCCR

• Sequence length: 464

Pathways

KEGG:

Endocrine resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
cAMP signaling pathway
FoxO signaling pathway
Sphingolipid signaling pathway
Mitophagy - animal
Autophagy - animal
Protein processing in endoplasmic reticulum
Apoptosis
Apoptosis - multiple species
Necroptosis
Wnt signaling pathway
Osteoclast differentiation
Focal adhesion
Tight junction
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
Fc epsilon RI signaling pathway
TNF signaling pathway
Neurotrophin signaling pathway
Retrograde endocannabinoid signaling
Dopaminergic synapse
Inflammatory mediator regulation of TRP channels
Insulin signaling pathway
GnRH signaling pathway
Progesterone-mediated oocyte maturation
Prolactin signaling pathway
Adipocytokine signaling pathway
Relaxin signaling pathway
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Alcoholic liver disease
Alzheimer disease
Parkinson disease
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Yersinia infection
Chagas disease
Toxoplasmosis
Tuberculosis
Hepatitis B
Measles
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Pancreatic cancer
Choline metabolism in cancer
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

Oxidative Stress Induced Senescence
FCERI mediated MAPK activation
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
Activation of the AP-1 family of transcription factors

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Epileptic encephalopathy	Encephalopathies, Epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	23329067
Langer-giedion syndrome	Langer-Giedion Syndrome	rs886040971, rs1554617582	23329067
Lennox-gastaut syndrome	Lennox-Gastaut syndrome	rs796052504	16249883, 23329067
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Macrocephaly and epileptic encephalopathy	MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY	rs121917995
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Absence seizure	Atypical absence seizure			ClinVar
Multiple Sclerosis	Multiple Sclerosis			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	30170437
Alzheimer Disease	Associate	21811019, 37236204, 7826642
Beckwith Wiedemann Syndrome	Associate	35507738
Breast Neoplasms	Associate	30670769, 32947764
Burkitt Lymphoma	Associate	12967475
Carcinogenesis	Associate	32987560
Carcinoma Hepatocellular	Associate	32572915
Carcinoma Non Small Cell Lung	Associate	32468043
Carcinoma Pancreatic Ductal	Associate	32119844
Cognition Disorders	Stimulate	37236204
Colorectal Neoplasms	Associate	29451183
Congenital Abnormalities	Associate	21712996
Diabetes Mellitus Type 2	Associate	37680885
Down Syndrome	Associate	7826642
Glioma	Associate	18281515, 32987560
Hepatoblastoma	Associate	35507738
Hirschsprung Disease	Associate	21712996, 32066630
Inflammation	Stimulate	37236204
Ketosis	Associate	40140215
Lymphoma Follicular	Associate	12967475
Lymphoma Large B Cell Diffuse	Associate	12967475
Multiple Myeloma	Associate	36289430
Nasopharyngeal Carcinoma	Associate	28393229
Neoplasms	Inhibit	32468043
Neoplasms	Associate	35165100, 40140215
Neuroblastoma	Associate	31432180
Osteosarcoma	Associate	37285835
Ovarian Neoplasms	Associate	25044439, 33004058, 37095524
Pancreatic Neoplasms	Associate	38330578
Pulmonary edema of mountaineers	Associate	24465776
Squamous Cell Carcinoma of Head and Neck	Associate	35974187
WHIM syndrome	Associate	33485325