MAP2K1 (mitogen-activated protein kinase kinase 1)

Gene

• Entrez ID: 5604
• Gene name: Mitogen-activated protein kinase kinase 1
• Gene symbol: MAP2K1
• Synonyms (NCBI Gene): CFC3, MAPKK1, MEK1, MEL, MKK1, PRKMK1
• Chromosome: 15
• Chromosome location: 15q22.31
• Summary: The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration poin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908594	T>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs121908595	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs121908596	G>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs397516789	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs397516790	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs397516791	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs397516792	C>A,G,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs397516793	T>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs727503996	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504317	G>A	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs727504819	G>A,T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs730880502	T>A,G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs730880503	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs730880507	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880508	GC>TT	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs797044593	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs869025339	AAG>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, inframe deletion
rs869025608	G>C,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs876657651	A>G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057518078	TGGGAGAACTGAAGG>-	Likely-pathogenic	Genic upstream transcript variant, inframe deletion, coding sequence variant
rs1057518080	ACTGAAGGATGACGA>-	Likely-pathogenic	Genic upstream transcript variant, inframe deletion, coding sequence variant
rs1057519728	T>A,C,G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519729	A>C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519730	T>A,G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519731	G>C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519732	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519733	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057519734	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057519805	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519819	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519820	A>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519821	G>C,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519822	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519823	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519856	T>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519908	T>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519909	A>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1595860875	A>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004483	hsa-miR-34a-5p	qRT-PCR, Luciferase reporter assay, Western blot, Northern blot	20299489
MIRT003226	hsa-miR-424-5p	Luciferase reporter assay	20065103
MIRT003226	hsa-miR-424-5p	Immunohistochemistry, qRT-PCR, Western blot	21179471
MIRT007165	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	23092882
MIRT007165	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	23092882
MIRT007165	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	23092882
MIRT007165	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	23092882
MIRT022002	hsa-miR-128-3p	Sequencing	20371350
MIRT025120	hsa-miR-181a-5p	Sequencing	20371350
MIRT027265	hsa-miR-101-3p	Sequencing	20371350
MIRT047918	hsa-miR-30c-5p	CLASH	23622248
MIRT038788	hsa-miR-93-3p	CLASH	23622248
MIRT025120	hsa-miR-181a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23911747
MIRT025120	hsa-miR-181a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23911747
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT438783	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT438783	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT438782	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438782	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438779	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438779	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438778	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438778	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438775	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438775	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438774	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438774	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438770	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438770	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT025120	hsa-miR-181a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23911747
MIRT025120	hsa-miR-181a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23911747
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT438783	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT438783	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT438782	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438782	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438779	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438779	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438778	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438778	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438775	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438775	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438774	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438774	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438770	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438770	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT281794	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT281805	hsa-miR-548ab	PAR-CLIP	20371350
MIRT281806	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT281807	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT281808	hsa-miR-548ak	PAR-CLIP	20371350
MIRT281809	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT281811	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT281812	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT281813	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT281814	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT281815	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT281818	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT281793	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT281821	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT281795	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT281796	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT281800	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT281801	hsa-miR-548i	PAR-CLIP	20371350
MIRT281797	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT281804	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT281802	hsa-miR-548w	PAR-CLIP	20371350
MIRT281803	hsa-miR-548y	PAR-CLIP	20371350
MIRT281792	hsa-miR-559	PAR-CLIP	20371350
MIRT281817	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT281798	hsa-miR-548k	PAR-CLIP	20371350
MIRT281820	hsa-miR-8054	PAR-CLIP	20371350
MIRT281799	hsa-miR-548l	PAR-CLIP	20371350
MIRT281819	hsa-miR-6507-5p	PAR-CLIP	20371350
MIRT574079	hsa-miR-6758-5p	PAR-CLIP	20371350
MIRT574078	hsa-miR-6856-5p	PAR-CLIP	20371350
MIRT281810	hsa-miR-451b	PAR-CLIP	20371350
MIRT342789	hsa-miR-624-5p	PAR-CLIP	20371350
MIRT281791	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT281816	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT450208	hsa-miR-889-3p	PAR-CLIP	22100165
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT281794	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT281805	hsa-miR-548ab	PAR-CLIP	20371350
MIRT281806	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT281807	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT281808	hsa-miR-548ak	PAR-CLIP	20371350
MIRT281809	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT281811	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT281812	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT281813	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT281814	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT281815	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT281818	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT281793	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT281821	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT281795	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT281796	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT281800	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT281801	hsa-miR-548i	PAR-CLIP	20371350
MIRT281797	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT281804	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT281802	hsa-miR-548w	PAR-CLIP	20371350
MIRT281803	hsa-miR-548y	PAR-CLIP	20371350
MIRT281792	hsa-miR-559	PAR-CLIP	20371350
MIRT281817	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT281798	hsa-miR-548k	PAR-CLIP	20371350
MIRT281820	hsa-miR-8054	PAR-CLIP	20371350
MIRT281799	hsa-miR-548l	PAR-CLIP	20371350
MIRT281819	hsa-miR-6507-5p	PAR-CLIP	20371350
MIRT574079	hsa-miR-6758-5p	PAR-CLIP	20371350
MIRT574078	hsa-miR-6856-5p	PAR-CLIP	20371350
MIRT281810	hsa-miR-451b	PAR-CLIP	20371350
MIRT342789	hsa-miR-624-5p	PAR-CLIP	20371350
MIRT281791	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT281816	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT450208	hsa-miR-889-3p	PAR-CLIP	22100165
MIRT1127911	hsa-miR-1261	CLIP-seq
MIRT1127912	hsa-miR-1263	CLIP-seq
MIRT1127913	hsa-miR-1284	CLIP-seq
MIRT1127914	hsa-miR-1290	CLIP-seq
MIRT1127915	hsa-miR-2110	CLIP-seq
MIRT1127916	hsa-miR-2116	CLIP-seq
MIRT1127917	hsa-miR-3121-5p	CLIP-seq
MIRT1127918	hsa-miR-3153	CLIP-seq
MIRT1127919	hsa-miR-3201	CLIP-seq
MIRT1127920	hsa-miR-3622a-5p	CLIP-seq
MIRT1127921	hsa-miR-3675-5p	CLIP-seq
MIRT1127922	hsa-miR-4271	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT1127924	hsa-miR-4423-3p	CLIP-seq
MIRT1127925	hsa-miR-4666-3p	CLIP-seq
MIRT1127926	hsa-miR-4677-5p	CLIP-seq
MIRT1127927	hsa-miR-4725-3p	CLIP-seq
MIRT1127928	hsa-miR-4789-5p	CLIP-seq
MIRT1127929	hsa-miR-4791	CLIP-seq
MIRT1127930	hsa-miR-4793-5p	CLIP-seq
MIRT1127931	hsa-miR-485-3p	CLIP-seq
MIRT1127932	hsa-miR-501-5p	CLIP-seq
MIRT1127933	hsa-miR-522	CLIP-seq
MIRT1127934	hsa-miR-577	CLIP-seq
MIRT1127935	hsa-miR-590-3p	CLIP-seq
MIRT1127936	hsa-miR-605	CLIP-seq
MIRT1127937	hsa-miR-890	CLIP-seq
MIRT1551110	hsa-miR-3136-3p	CLIP-seq
MIRT1551111	hsa-miR-3173-3p	CLIP-seq
MIRT1551112	hsa-miR-3622b-5p	CLIP-seq
MIRT1551113	hsa-miR-4533	CLIP-seq
MIRT1551114	hsa-miR-4695-5p	CLIP-seq
MIRT1551115	hsa-miR-4747-5p	CLIP-seq
MIRT2036297	hsa-miR-1208	CLIP-seq
MIRT1127912	hsa-miR-1263	CLIP-seq
MIRT2036298	hsa-miR-130a	CLIP-seq
MIRT2036299	hsa-miR-130b	CLIP-seq
MIRT2036300	hsa-miR-1324	CLIP-seq
MIRT2036301	hsa-miR-148a	CLIP-seq
MIRT2036302	hsa-miR-148b	CLIP-seq
MIRT2036303	hsa-miR-152	CLIP-seq
MIRT2036304	hsa-miR-197	CLIP-seq
MIRT2036305	hsa-miR-2052	CLIP-seq
MIRT2036306	hsa-miR-23a	CLIP-seq
MIRT2036307	hsa-miR-23b	CLIP-seq
MIRT2036308	hsa-miR-23c	CLIP-seq
MIRT2036309	hsa-miR-301a	CLIP-seq
MIRT2036310	hsa-miR-301b	CLIP-seq
MIRT2036311	hsa-miR-3166	CLIP-seq
MIRT2036312	hsa-miR-329	CLIP-seq
MIRT2036313	hsa-miR-362-3p	CLIP-seq
MIRT2036314	hsa-miR-3651	CLIP-seq
MIRT2036315	hsa-miR-3666	CLIP-seq
MIRT2036316	hsa-miR-3941	CLIP-seq
MIRT2036317	hsa-miR-3943	CLIP-seq
MIRT2036318	hsa-miR-4278	CLIP-seq
MIRT2036319	hsa-miR-4282	CLIP-seq
MIRT2036320	hsa-miR-4295	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT2036321	hsa-miR-4323	CLIP-seq
MIRT2036322	hsa-miR-4420	CLIP-seq
MIRT2036323	hsa-miR-4436b-5p	CLIP-seq
MIRT2036324	hsa-miR-4438	CLIP-seq
MIRT2036325	hsa-miR-4514	CLIP-seq
MIRT2036326	hsa-miR-4519	CLIP-seq
MIRT2036327	hsa-miR-454	CLIP-seq
MIRT2036328	hsa-miR-4676-5p	CLIP-seq
MIRT2036329	hsa-miR-4692	CLIP-seq
MIRT2036330	hsa-miR-4717-3p	CLIP-seq
MIRT2036331	hsa-miR-4719	CLIP-seq
MIRT2036332	hsa-miR-4760-3p	CLIP-seq
MIRT2036333	hsa-miR-4786-3p	CLIP-seq
MIRT2036334	hsa-miR-490-5p	CLIP-seq
MIRT2036335	hsa-miR-5095	CLIP-seq
MIRT2036336	hsa-miR-513a-3p	CLIP-seq
MIRT2036337	hsa-miR-575	CLIP-seq
MIRT2036338	hsa-miR-603	CLIP-seq
MIRT2036339	hsa-miR-633	CLIP-seq
MIRT2036340	hsa-miR-873	CLIP-seq
MIRT1127937	hsa-miR-890	CLIP-seq
MIRT1127912	hsa-miR-1263	CLIP-seq
MIRT1127913	hsa-miR-1284	CLIP-seq
MIRT2036298	hsa-miR-130a	CLIP-seq
MIRT2036299	hsa-miR-130b	CLIP-seq
MIRT2036300	hsa-miR-1324	CLIP-seq
MIRT2266568	hsa-miR-140-3p	CLIP-seq
MIRT2036301	hsa-miR-148a	CLIP-seq
MIRT2036302	hsa-miR-148b	CLIP-seq
MIRT2266569	hsa-miR-149	CLIP-seq
MIRT2036303	hsa-miR-152	CLIP-seq
MIRT2036304	hsa-miR-197	CLIP-seq
MIRT2036305	hsa-miR-2052	CLIP-seq
MIRT2266570	hsa-miR-2681	CLIP-seq
MIRT2036309	hsa-miR-301a	CLIP-seq
MIRT2036310	hsa-miR-301b	CLIP-seq
MIRT2266571	hsa-miR-3064-5p	CLIP-seq
MIRT2036311	hsa-miR-3166	CLIP-seq
MIRT2266572	hsa-miR-3179	CLIP-seq
MIRT2036312	hsa-miR-329	CLIP-seq
MIRT2266573	hsa-miR-34a	CLIP-seq
MIRT2036313	hsa-miR-362-3p	CLIP-seq
MIRT2036314	hsa-miR-3651	CLIP-seq
MIRT2036315	hsa-miR-3666	CLIP-seq
MIRT2036316	hsa-miR-3941	CLIP-seq
MIRT2036317	hsa-miR-3943	CLIP-seq
MIRT2266574	hsa-miR-411	CLIP-seq
MIRT2036318	hsa-miR-4278	CLIP-seq
MIRT2036320	hsa-miR-4295	CLIP-seq
MIRT2266575	hsa-miR-4299	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT2036321	hsa-miR-4323	CLIP-seq
MIRT2036323	hsa-miR-4436b-5p	CLIP-seq
MIRT2036324	hsa-miR-4438	CLIP-seq
MIRT2266576	hsa-miR-4463	CLIP-seq
MIRT2266577	hsa-miR-4494	CLIP-seq
MIRT2266578	hsa-miR-449b	CLIP-seq
MIRT2036325	hsa-miR-4514	CLIP-seq
MIRT2036326	hsa-miR-4519	CLIP-seq
MIRT2036327	hsa-miR-454	CLIP-seq
MIRT2036328	hsa-miR-4676-5p	CLIP-seq
MIRT2036329	hsa-miR-4692	CLIP-seq
MIRT2036331	hsa-miR-4719	CLIP-seq
MIRT2036333	hsa-miR-4786-3p	CLIP-seq
MIRT1127928	hsa-miR-4789-5p	CLIP-seq
MIRT2266579	hsa-miR-4794	CLIP-seq
MIRT2036334	hsa-miR-490-5p	CLIP-seq
MIRT2036335	hsa-miR-5095	CLIP-seq
MIRT2036337	hsa-miR-575	CLIP-seq
MIRT2036338	hsa-miR-603	CLIP-seq
MIRT2036339	hsa-miR-633	CLIP-seq
MIRT2266580	hsa-miR-760	CLIP-seq
MIRT2036340	hsa-miR-873	CLIP-seq
MIRT2266581	hsa-miR-936	CLIP-seq
MIRT1127913	hsa-miR-1284	CLIP-seq
MIRT1127928	hsa-miR-4789-5p	CLIP-seq
MIRT2036305	hsa-miR-2052	CLIP-seq
MIRT2036312	hsa-miR-329	CLIP-seq
MIRT2036313	hsa-miR-362-3p	CLIP-seq
MIRT2036314	hsa-miR-3651	CLIP-seq
MIRT2036316	hsa-miR-3941	CLIP-seq
MIRT2036317	hsa-miR-3943	CLIP-seq
MIRT2036318	hsa-miR-4278	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT2036321	hsa-miR-4323	CLIP-seq
MIRT2036323	hsa-miR-4436b-5p	CLIP-seq
MIRT2036331	hsa-miR-4719	CLIP-seq
MIRT2036338	hsa-miR-603	CLIP-seq
MIRT2036339	hsa-miR-633	CLIP-seq
MIRT2036305	hsa-miR-2052	CLIP-seq
MIRT2036312	hsa-miR-329	CLIP-seq
MIRT2036313	hsa-miR-362-3p	CLIP-seq
MIRT2036314	hsa-miR-3651	CLIP-seq
MIRT2036316	hsa-miR-3941	CLIP-seq
MIRT2036317	hsa-miR-3943	CLIP-seq
MIRT2036318	hsa-miR-4278	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT2036321	hsa-miR-4323	CLIP-seq
MIRT2036323	hsa-miR-4436b-5p	CLIP-seq
MIRT2036331	hsa-miR-4719	CLIP-seq
MIRT2036338	hsa-miR-603	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IBA
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003056	Process	Regulation of vascular associated smooth muscle contraction	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	10570282
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004708	Function	MAP kinase kinase activity	IBA
GO:0004708	Function	MAP kinase kinase activity	IDA	8388392, 28166211
GO:0004708	Function	MAP kinase kinase activity	IEA
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	TAS	19565474
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005078	Function	MAP-kinase scaffold activity	IEA
GO:0005078	Function	MAP-kinase scaffold activity	IMP	29433126
GO:0005515	Function	Protein binding	IDA	22572157
GO:0005515	Function	Protein binding	IPI	15299019, 17110930, 17255949, 17724343, 17979178, 18329369, 19197339, 20179161, 20554783, 20679487, 21441104, 22752157, 23241949, 23934108, 24211253, 24746704, 25155755, 25416956, 25437913, 25600339, 26496610, 29433126, 31980649, 32296183, 32707033, 32721402, 33961781, 34779126, 352
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	19565474
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	19565474
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	TAS	19565474
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	TAS	19565474
GO:0005783	Component	Endoplasmic reticulum	IDA	22572157
GO:0005794	Component	Golgi apparatus	TAS	19565474
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	19565474
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	TAS	19565474
GO:0005938	Component	Cell cortex	IEA
GO:0006935	Process	Chemotaxis	TAS	10570282
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007165	Process	Signal transduction	TAS	10570282
GO:0007507	Process	Heart development	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9765203
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	15155804, 24375836
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0021697	Process	Cerebellar cortex formation	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030295	Function	Protein kinase activator activity	IDA	10644344
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031435	Function	Mitogen-activated protein kinase kinase kinase binding	IEA
GO:0032402	Process	Melanosome transport	IEA
GO:0032839	Component	Dendrite cytoplasm	IEA
GO:0032872	Process	Regulation of stress-activated MAPK cascade	IEA
GO:0032872	Process	Regulation of stress-activated MAPK cascade	TAS	19565474
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IEA
GO:0034111	Process	Negative regulation of homotypic cell-cell adhesion	IEA
GO:0035987	Process	Endodermal cell differentiation	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0038133	Process	ERBB2-ERBB3 signaling pathway	IEA
GO:0042552	Process	Myelination	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	8388392
GO:0043539	Function	Protein serine/threonine kinase activator activity	IEA
GO:0044342	Process	Type B pancreatic cell proliferation	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	24375836
GO:0045933	Process	Positive regulation of muscle contraction	IEA
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IEA
GO:0047496	Process	Vesicle transport along microtubule	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048313	Process	Golgi inheritance	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0048679	Process	Regulation of axon regeneration	IEA
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0048870	Process	Cell motility	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0060020	Process	Bergmann glial cell differentiation	IEA
GO:0060324	Process	Face development	IEA
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060440	Process	Trachea formation	IEA
GO:0060502	Process	Epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0060674	Process	Placenta blood vessel development	IEA
GO:0060711	Process	Labyrinthine layer development	IEA
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	TAS
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	24375836
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IDA	8388392
GO:0090170	Process	Regulation of Golgi inheritance	IEA
GO:0090170	Process	Regulation of Golgi inheritance	TAS	19565474
GO:0090398	Process	Cellular senescence	IMP	9765203
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	IPI	10409742
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1903226	Process	Positive regulation of endodermal cell differentiation	IEA
GO:1903298	Process	Negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	IEA
GO:2000641	Process	Regulation of early endosome to late endosome transport	IEA
GO:2000641	Process	Regulation of early endosome to late endosome transport	TAS	19565474
GO:2001171	Process	Positive regulation of ATP biosynthetic process	IEA

Other IDs

• MIM: 176872
• HGNC: 6840
• e!Ensembl: ENSG00000169032

Protein

• UniProt ID: Q02750
• Protein name: Dual specificity mitogen-activated protein kinase kinase 1 (MAP kinase kinase 1) (MAPKK 1) (MKK1) (EC 2.7.12.2) (ERK activator kinase 1) (MAPK/ERK kinase 1) (MEK 1)
• Protein function: Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and
• PDB: 1S9J, 2P55, 3DV3, 3DY7, 3E8N, 3EQB, 3EQC, 3EQD, 3EQF, 3EQG, 3EQH, 3EQI, 3MBL, 3ORN, 3OS3, 3PP1, 3SLS, 3V01, 3V04, 3VVH, 3W8Q, 3WIG, 3ZLS, 3ZLW, 3ZLX, 3ZLY, 3ZM4, 4AN2, 4AN3, 4AN9, 4ANB, 4ARK, 4LMN, 4MNE, 4U7Z, 4U80, 4U81, 5BX0, 5EYM, 5HZE, 5YT3, 6NYB, 6PP9, 6Q0J, 6Q0T, 6U2G, 6V2W, 6X2P, 6X2S, 6X2X, 7B3M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	68 → 361	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with extremely low levels in brain. {ECO:0000269|PubMed:1281467}.
• Sequence:

  MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKV
  GELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHE
  CNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYL
  REKHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHY
  SVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSY
  GMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAF
  IKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV

• Sequence length: 393

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Oocyte meiosis
Autophagy - animal
Efferocytosis
mTOR signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Cellular senescence
Vascular smooth muscle contraction
VEGF signaling pathway
Apelin signaling pathway
Osteoclast differentiation
Focal adhesion
Gap junction
Signaling pathways regulating pluripotency of stem cells
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
TNF signaling pathway
Long-term potentiation
Neurotrophin signaling pathway
Cholinergic synapse
Serotonergic synapse
Long-term depression
Regulation of actin cytoskeleton
Insulin signaling pathway
GnRH signaling pathway
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Melanogenesis
Prolactin signaling pathway
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Relaxin signaling pathway
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Cushing syndrome
Growth hormone synthesis, secretion and action
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Alcoholism
Salmonella infection
Yersinia infection
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Thyroid cancer
Melanoma
Bladder cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer

Reactome:

MAPK3 (ERK1) activation
Frs2-mediated activation
Signal transduction by L1
Uptake and function of anthrax toxins
RAF activation
MAP2K and MAPK activation
Negative feedback regulation of MAPK pathway
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Arteriovenous malformation	Pathogenic	rs869025608	RCV005251535
Autism spectrum disorder	Pathogenic	rs727504317	RCV000754677
Cardio-facio-cutaneous syndrome	Likely pathogenic; Pathogenic	rs869025608, rs121908594, rs121908595, rs121908596, rs397516792, rs397516793, rs397516790, rs727504317, rs397516791, rs1595860875	RCV000208748 RCV000520164 RCV000208757 RCV000211725 RCV000037595 RCV000037596 RCV000037591 RCV000208771 RCV000522848 RCV000824934
Cardiofaciocutaneous syndrome 1	Pathogenic	rs121908595, rs727504317	RCV005859462 RCV004760352
Cardiofaciocutaneous syndrome 3	Pathogenic; Likely pathogenic	rs121908596, rs1265809314, rs1057519733, rs1057519732, rs797044593, rs869025339, rs876657651, rs727504819, rs1326401609, rs121908594, rs121908595, rs1057519805, rs397516792, rs727504317, rs397516793	RCV001724794 RCV001730035 RCV001795582 RCV002267695 RCV000192194 RCV002277569 RCV000763361 RCV001027695 RCV003314431 RCV000014278 RCV000043672 RCV000043673 RCV000989347 RCV003329162 RCV005252499 RCV001078439 RCV001542689 RCV000192193 RCV000787941
Cardiovascular phenotype	Pathogenic	rs121908595, rs727504317	RCV004984640 RCV002415455
Embryonal rhabdomyosarcoma	Pathogenic	rs727504317	RCV006253722
Extracranial arteriovenous malformation	Pathogenic	rs1057519729	RCV005251122
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs1019098903	RCV003991601
MAP2K1-related disorder	Pathogenic	rs121908595	RCV004532347
MAP2K1-related RASopathy	Pathogenic	rs727504317	RCV001095724
Melorheostosis	Likely pathogenic; Pathogenic	rs869025608, rs121908595, rs1057519729, rs397516790, rs727504317	RCV002051691 RCV001197351 RCV002051704 RCV002051705 RCV003224114
Metastatic melanoma	Pathogenic	rs1057519732	RCV006253964
Neoplasm	Pathogenic	rs121908595, rs1057519729, rs397516790	RCV005229789 RCV005230288 RCV005230294
Non-small cell lung carcinoma	Pathogenic	rs1057519729	RCV000418731
Noonan syndrome	Pathogenic; Likely pathogenic	rs727503996, rs876657651, rs1057519732, rs727504317, rs730880502	RCV000824938 RCV000844674 RCV000824936 RCV000844673 RCV001261060 RCV001261061
Noonan syndrome 1	Pathogenic; Likely pathogenic	rs876657651, rs727504819, rs121908595	RCV000763361 RCV000763976 RCV000763362
Noonan syndrome and Noonan-related syndrome	Likely pathogenic; Pathogenic	rs397516792, rs397516791	RCV001813306 RCV001813322
Parkes Weber syndrome	Likely pathogenic; Pathogenic	rs2140579005	RCV002254481
RASopathy	Pathogenic; Likely pathogenic	rs2140578916, rs727503996, rs797044593, rs869025339, rs876657651, rs727504819, rs121908594, rs121908595, rs121908596, rs1057519732, rs1057519730, rs397516792, rs730880508, rs397516790, rs727504317, rs397516791	RCV002036005 RCV001250390 RCV001850428 RCV002790723 RCV002515536 RCV000220187 RCV001250384 RCV004760331 RCV000541525 RCV001234104 RCV001250385 RCV001237931 RCV002513329 RCV000158013 RCV000158014 RCV000158004 RCV004760354 RCV001349797
Spitz Melanocytoma	Pathogenic	rs1057519732	RCV006253965
Vascular malformation	Likely pathogenic; Pathogenic	rs2140579005, rs869025608, rs2545050964, rs2140583383	RCV003458851 RCV005251094 RCV003458961 RCV003458964

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	-	rs138560168	RCV006097414
Diffuse midline glioma, H3 K27M-mutant	Uncertain significance	rs1567009054	RCV006254150
Familial cancer of breast	Likely benign	rs146415623	RCV005901678
Malignant tumor of esophagus	Uncertain significance	rs1334665647	RCV005924319
MAP2K1-related rasopathy-like syndrome	Conflicting classifications of pathogenicity	rs730880503	RCV001526460
Nonpapillary renal cell carcinoma	Uncertain significance	rs730880505	RCV005888563
Obesity	Conflicting classifications of pathogenicity	rs966429123	RCV005626494
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	rs187650018, rs1334665647	RCV005917766 RCV005924320
Papillary renal cell carcinoma type 1	Uncertain significance	rs1891814748	RCV005931468
Squamous cell lung carcinoma	Benign	rs16949924	RCV001250983
Thymoma	Likely benign	rs187650018	RCV005917767

Associations from Text Mining
Disease Name	Relationship Type	References
Absent Eyebrows and Eyelashes with Mental Retardation	Associate	37697378
Adenocarcinoma	Associate	23196793, 24823994, 26317790, 26860843, 28617917
Adenocarcinoma of Lung	Associate	25351745, 27151654, 35641658, 36922519
Adenocarcinoma of Lung	Inhibit	34526571
Adenoma	Stimulate	29565480
Alzheimer Disease	Associate	17064357, 38039290, 39396083
Androgen Insensitivity Syndrome	Associate	35641658
Antiphospholipid Syndrome	Associate	16385547
Arteriovenous Malformations	Associate	28190454, 31637524, 32157142, 32703450, 32799314
Astrocytoma	Associate	12356354
Ataxia Telangiectasia	Associate	19500021
Atherosclerosis	Associate	35202001
Atrial Fibrillation	Associate	10807475
Biliary Tract Neoplasms	Associate	33095329
Blood Coagulation Disorders	Associate	39252244
Bone Diseases	Associate	29643386, 30667555
Breast Neoplasms	Associate	12907143, 14704150, 22429491, 23939428, 24993294, 29968772, 30108112, 31702027, 33066575, 35739379, 36041543, 36524361, 37664933
Calcinosis Cutis	Associate	26860843
Capillary Malformation Arteriovenous Malformation	Associate	32703450
Carcinogenesis	Associate	29064427, 30355600, 34526571
Carcinoid Tumor	Associate	20407018
Carcinoma	Associate	31467233
Carcinoma Ductal	Associate	34048471
Carcinoma Hepatocellular	Associate	22930530, 24931142, 27955658, 28844099, 30217449, 33090396, 35725908, 37914022, 9223425
Carcinoma Hepatocellular	Inhibit	34526571
Carcinoma Large Cell	Associate	23196793
Carcinoma Non Small Cell Lung	Associate	20354455, 23277484, 24108744, 24823994, 25634010, 26860843, 32147669, 35655775, 36499305
Carcinoma Ovarian Epithelial	Associate	25408231
Carcinoma Pancreatic Ductal	Associate	31583713
Carcinoma Renal Cell	Associate	12644821, 32717723, 34526571
Carcinoma Squamous Cell	Associate	35709927, 36922519
Cardiofaciocutaneous syndrome	Associate	17056636, 17483702, 18039235, 18854871, 19156172, 19915144, 20186801, 21062266, 21495173, 24637312, 33482860, 35509048, 35524774, 37510243, 37697378
Cardiomyopathy Hypertrophic	Associate	31163979
Caroli disease isolated	Associate	27955658
Cartilage Diseases	Associate	32157142
Central Nervous System Vascular Malformations	Associate	36864519
Chemical and Drug Induced Liver Injury	Associate	25080058
Cholangiocarcinoma	Associate	17461449, 24889489
Cognition Disorders	Associate	19156172
Cognitive Dysfunction	Associate	38039290
Colitis Ulcerative	Associate	39252244
Colorectal Neoplasms	Associate	19372556, 20413844, 23027623, 23325601, 24025253, 25794709, 26660078, 26797410, 27636997, 28655712, 29599344, 30535504, 35091088, 35544729, 35641204, 36202073, 36398713, 36746394, 39456850
Congenital Abnormalities	Associate	19156172
Corneal Endothelial Cell Loss	Associate	28190454
Costello Syndrome	Associate	17704260
Craniodiaphyseal Dysplasia Autosomal Dominant	Associate	27955658
Crazy paving pattern	Associate	36029220
Developmental Disabilities	Associate	27955658, 30355600, 37869794
Diabetes Mellitus Type 2	Associate	26269521
Disease Progression	Associate	34381078
Drug Related Side Effects and Adverse Reactions	Associate	12738674, 16957420, 18719356, 19671683, 20360249, 20442308
Dwarfism Pituitary	Associate	24637312
Ectodermal Dysplasia	Associate	19156172
Endocrine System Diseases	Associate	24637312
Endometrial Neoplasms	Associate	21720253
Endometriosis	Associate	24064688
Erdheim Chester Disease	Associate	31004029, 36693681
Esophageal Neoplasms	Inhibit	34526571
Esophageal Neoplasms	Associate	37286356
Esophageal Squamous Cell Carcinoma	Associate	19164283, 35468097, 36848349
Eye Abnormalities	Associate	19156172
Fatigue Syndrome Chronic	Associate	27098723
Focal cortical dysplasia of Taylor	Associate	36864519
Ganglioglioma	Associate	39475028
Genetic Predisposition to Disease	Associate	36693681
Glioblastoma	Associate	23190603, 32926734
Glioma	Associate	18398503, 19158480, 21364665
Glomerulonephritis Membranous	Associate	22429491
Growth Disorders	Associate	37697378
Heart Defects Congenital	Associate	19156172
Heart Failure	Associate	37234159
Hemangioma	Associate	21179471, 31486960
Hematoma	Associate	34857025
Hemorrhage	Associate	34857025
Histiocytic Disorders Malignant	Associate	36890472
Histiocytic Sarcoma	Associate	30626916
Histiocytosis	Associate	26566875, 31768065
Histiocytosis Langerhans Cell	Associate	24982505, 25202140, 26637773, 27076591, 31806714, 32372223, 32738155, 34459688, 35231481, 35410720, 36083130, 36890472, 39727013
Histiocytosis Non Langerhans Cell	Associate	26566875
Histiocytosis Sinus	Associate	28664935, 36693681, 37115038
Hydrops Fetalis	Associate	35397126
Hyperglycemia	Associate	27606810
Hyperprolactinemia	Associate	24637312
Hypersensitivity Delayed	Associate	18039235
Hypoxia	Associate	27486656
Hypoxia Brain	Associate	26387536
Idiopathic Pulmonary Fibrosis	Associate	17331965
Infections	Associate	16051824, 23797008
Inflammation	Associate	15375172, 18424438, 19858308, 21990352, 23027623, 32063702, 35202001, 37339976
Inflammatory Bowel Diseases	Associate	28617917
Intraabdominal Infections	Associate	36693681
Intracranial Arteriovenous Malformations	Associate	31891627
Ischemia	Associate	26742633
Kidney Neoplasms	Associate	22180573
Language Development Disorders	Associate	18039235
Learning Disabilities	Associate	18039235
Leukemia	Associate	15031205, 17218385, 19414379, 19773546, 30964176, 31056348, 37322258
Leukemia Biphenotypic Acute	Associate	25313141
Leukemia Hairy Cell	Associate	12576324, 24241536, 29955146
Leukemia Lymphocytic Chronic B Cell	Associate	18292287, 22086413, 22160382
Leukemia Myeloid	Associate	11238126
Leukemia Myeloid Acute	Associate	11238126, 16467208
Lewy Body Disease	Associate	18508479
Liver Failure	Associate	25080058, 25794709
Lung Neoplasms	Associate	11166731, 20354455, 23362830, 24236184, 25351745, 31379227, 35709927, 37816716
Lymphoma	Associate	20117835, 34239803
Lymphoma B Cell	Associate	35834399
Lymphoma B Cell Marginal Zone	Associate	35609565
Lymphoma Follicular	Associate	27325104, 28533310, 33211828, 37561599
Lymphoma Non Hodgkin	Associate	29515122
Lymphoma T Cell	Associate	34239803
Malformations of Cortical Development Group I	Associate	19833733
Mammary Neoplasms Animal	Associate	16957420, 19457236
Medulloblastoma	Associate	12709419
Melanocytic nevus syndrome congenital	Associate	32847629
Melanoma	Associate	19362540, 19915144, 21477078, 22588879, 22589389, 23174022, 23444215, 24265154, 24466036, 25850435, 26084293, 26105199, 28387310, 28655712, 30543563, 30819666, 30989459, 31900433, 31980996, 32483240, 32847629, 33808483, 35290123, 36901951, 37379213
Melanoma Cutaneous Malignant	Associate	32483240, 34526571
Melorheostosis	Associate	29643386, 30138550, 30667555, 35189151
Mesothelioma	Associate	34526571, 35319795
Migraine Disorders	Associate	28801450
Mitral Valve Insufficiency	Associate	19156172
Mouth Diseases	Associate	33040161
Multiple Myeloma	Associate	17540843, 17854307, 21911831, 24594907
Multiple Pulmonary Nodules	Associate	36029220
Musculoskeletal Diseases	Associate	33482860
Nasal Polyps	Associate	24609540
Nasopharyngeal Carcinoma	Associate	29364482
Neoplasm Metastasis	Associate	26860843, 29208568, 35725908
Neoplasms	Associate	17218385, 18060073, 18398503, 20104618, 20442308, 21179471, 22212915, 22546478, 23917378, 24025253, 24846037, 24889489, 25394791, 25673644, 26566875, 26860843, 27057633, 27151654, 27374168, 28190454, 28453743, 28655712, 28674184, 29064427, 29307797, 30776432, 30858179, 31407636, 33040161, 33836754, 34469736, 34526571, 35231481, 35319795, 35831322, 36140671, 36442478, 36681091, 36763589, 37684586, 37778380, 37869794, 37878806, 39215079, 39806853, 40107157
Neoplasms	Inhibit	22049531
Neoplasms	Stimulate	9223425
Neuroblastoma	Associate	22142829, 26384788, 27613601, 34807483
Neuroendocrine Tumors	Associate	20407018, 33144445
Neurofibrosarcoma	Associate	27494873
Neuronal intestinal pseudoobstruction	Associate	12580546
Nevus	Associate	32847629
Nevus Epithelioid and Spindle Cell	Associate	35319526
Nevus Pigmented	Associate	27057633
Noonan like syndrome	Associate	18854871
Noonan Syndrome	Associate	17704260, 18854871, 23321623, 25049390, 31163979, 38254922
Nystagmus Pathologic	Associate	18039235
Optic Nerve Glioma	Associate	12356354
Optic Nerve Hypoplasia	Associate	24637312
Oral Submucous Fibrosis	Associate	35961969
Oropharyngeal Neoplasms	Associate	15375172
Osteoma Osteoid	Associate	29643386, 30138550
Osteosarcoma	Associate	17412493
Ovarian Neoplasms	Associate	12644821, 18060073, 26526982, 35840928
Pancreatic Neoplasms	Associate	31988090, 36999792
Parkinson Disease	Associate	36593912, 37339976
Periodic fever familial autosomal dominant	Associate	31009059
Pituitary Neoplasms	Associate	29565480
Pneumonia	Associate	32063702
Prostatic Neoplasms	Associate	21081304, 22791812, 26983806, 29949147, 30575899
Puberty Precocious	Associate	24637312
Pulmonary Disease Chronic Obstructive	Associate	32063702
Pulmonary Valve Stenosis	Associate	24637312
Rectal Neoplasms	Associate	23027623
Schizophrenia	Associate	18319075, 35492247
Seizures	Associate	35524774
Spasms Infantile	Associate	36448195
Squamous Cell Carcinoma of Head and Neck	Associate	24192080, 31827134, 32381551, 33051434, 34526571, 36007290
Squamous Cell Carcinoma of Head and Neck	Stimulate	35961969
Status Asthmaticus	Stimulate	20926789
Stomach Neoplasms	Associate	15655810, 19858308, 23921907, 28522256, 34526571, 36203485, 39806853
Strabismus	Associate	18039235
Testicular Germ Cell Tumor	Associate	34526571
Thymoma	Associate	32463597, 34526571
Thyroid Cancer Papillary	Associate	19500021, 25294906, 31407636
Thyroid Neoplasms	Associate	19500021, 22090271, 30768848, 31407636
Triple Negative Breast Neoplasms	Associate	30108112, 34168046
Urinary Bladder Neoplasms	Associate	22049531
Uterine Cervical Neoplasms	Associate	32196955
Vascular Diseases	Associate	30138550