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

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
Arteriovenous malformation	Pathogenic	rs869025608	RCV005251535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic	rs727504317	RCV000754677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiofaciocutaneous syndrome 1	Pathogenic	rs121908595, rs727504317	RCV005859462 RCV004760352	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic	rs121908595, rs727504317	RCV004984640 RCV002415455	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Pathogenic	rs727504317	RCV006253722	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Extracranial arteriovenous malformation	Pathogenic	rs1057519729	RCV005251122	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs1019098903	RCV003991601	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAP2K1-related disorder	Pathogenic	rs121908595	RCV004532347	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAP2K1-related RASopathy	Pathogenic	rs727504317	RCV001095724	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melorheostosis	Likely pathogenic; Pathogenic	rs869025608, rs121908595, rs1057519729, rs397516790, rs727504317	RCV002051691 RCV001197351 RCV002051704 RCV002051705 RCV003224114	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metastatic melanoma	Pathogenic	rs1057519732	RCV006253964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs121908595, rs1057519729, rs397516790	RCV005229789 RCV005230288 RCV005230294	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-small cell lung carcinoma	Pathogenic	rs1057519729	RCV000418731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome	Pathogenic; Likely pathogenic	rs727503996, rs876657651, rs1057519732, rs727504317, rs730880502	RCV000824938 RCV000844674 RCV000824936 RCV000844673 RCV001261060 RCV001261061	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome 1	Pathogenic; Likely pathogenic	rs876657651, rs727504819, rs121908595	RCV000763361 RCV000763976 RCV000763362	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome and Noonan-related syndrome	Likely pathogenic; Pathogenic	rs397516792, rs397516791	RCV001813306 RCV001813322	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkes Weber syndrome	Likely pathogenic; Pathogenic	rs2140579005	RCV002254481	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spitz Melanocytoma	Pathogenic	rs1057519732	RCV006253965	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular malformation	Likely pathogenic; Pathogenic	rs2140579005, rs869025608, rs2545050964, rs2140583383	RCV003458851 RCV005251094 RCV003458961 RCV003458964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOFACIOCUTANEOUS SYNDROME	—	CTD, ClinGen, Orphanet CTD, ClinGen, Orphanet CTD, ClinGen, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COSTELLO SYNDROME	—	CTD, ClinGen CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER, TREATMENT-RESISTANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27M-mutant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAP2K1-related rasopathy-like syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOONAN SYNDROME WITH MULTIPLE LENTIGINES	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	25253770, 26855057		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	LHGDN	15538402		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	29917183		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11585739		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18632602		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	18632602, 22135231, 25351745, 27151654, 31685806		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	22135231		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29565480		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25253770, 26855057		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	12709419		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	17204545		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17064357, 38039290, 39396083	Associate	★☆☆☆☆ Found in Text Mining only
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	22207005		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	12356354		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	28178630		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	35641658	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25117978, 26228206, 29740790		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	16385547	Associate	★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25810299, 30938884, 31784089		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	28190454, 31637524, 32157142, 32703450, 32799314	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12356354		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	12356354	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19500021	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25810299, 30938884, 31784089		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	35202001	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	10807475		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	10807475	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29178881		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	30763456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27986791		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	12220533, 29949147		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	21519026, 26683364		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	33095329	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22049531, 23217386		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	39252244	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	29643386, 30667555	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	31689526		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	17901229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	31612114		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10949153, 15695516, 20179161, 23530058, 23675882, 24316974, 24993294		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12907143, 14704150, 22429491, 23939428, 24993294, 29968772, 30108112, 31702027, 33066575, 35739379, 36041543, 36524361, 37664933	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	12220533		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29064427, 30355600, 34526571	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	20407018	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12644821		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	31467233	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	34048471	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22930530, 24931142, 27955658, 28844099, 30217449, 33090396, 35725908, 37914022, 9223425	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34526571	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	23196793	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22049531, 23217386		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17069796, 18632602, 20354455, 25541062, 26582713, 28288818, 31577942, 9121773		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25408231	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31583713	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	12644821, 32717723, 34526571	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35709927, 36922519	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12644821, 25408231		★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	GENOMICS_ENGLAND_DG	16439621, 16825433, 23321623, 23875798, 29461977		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CTD_human_DG	16439621, 17703371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG	16439621, 17981815, 18413255, 19156172, 23875798, 25049390		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINVAR_DG	16439621, 17366577, 17551924, 17567882, 17704260, 17981815, 18042262, 18060073, 18413255, 18632602, 19156172, 19411838, 19915144, 20354455, 22327936, 22848035, 23093928, 23569304, 24236184, 24637312, 24803665, 25049390, 28049852, 29493581		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	ORPHANET_DG	16825433		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	BEFREE	17483702, 17551924, 17567882, 18470943, 19156172, 19915144, 20523244, 20812000, 21784453, 23250860, 25423878, 27862862, 29590634, 29704308, 31125963		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	17056636, 17483702, 18039235, 18854871, 19156172, 19915144, 20186801, 21062266, 21495173, 24637312, 33482860, 35509048, 35524774, 37510243, 37697378	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOFACIOCUTANEOUS SYNDROME 3	Cardiofaciocutaneous Syndrome	CLINVAR_DG	16439621, 17704260, 25423878		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIOFACIOCUTANEOUS SYNDROME 3	Cardiofaciocutaneous Syndrome	GENOMICS_ENGLAND_DG	16439621, 23321623, 23875798, 27862862		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIOFACIOCUTANEOUS SYNDROME 3	Cardiofaciocutaneous Syndrome	UNIPROT_DG	16439621, 18042262		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathies	Cardiomyopathy	BEFREE	28011205		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	31163979	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	32157142	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29425910		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	26595054, 29476448		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	25253770, 26855057		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	12709419		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16950403, 17461449		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	17461449		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	17461449, 24889489	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22160382, 25804768, 29767411, 30648436		★☆☆☆☆ Found in Text Mining only
Chronic Neutrophilic Leukemia	Neutrophilic Leukemia	BEFREE	28031554		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19156172	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	38039290	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39252244	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19411838, 22948716, 23027623, 24025253, 29915160, 31227518		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18806830, 19014680, 19372556, 20923857, 21118963, 21148749, 21199803, 22579651, 24045180, 25683705, 26660078, 28551618, 28756770, 29599344, 29915160, 30535504		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15657353, 19014680		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19372556, 20413844, 23027623, 23325601, 24025253, 25794709, 26660078, 26797410, 27636997, 28655712, 29599344, 30535504, 35091088, 35544729, 35641204, 36202073, 36398713, 36746394, 39456850	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	19156172	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	CLINVAR_DG	16439621, 17366577, 17551924, 17567882, 17981815, 18042262, 19156172		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28190454, 31486960, 31637524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16543392, 18243508, 28212559, 29270287		★☆☆☆☆ Found in Text Mining only
Costello Syndrome	Costello syndrome	Pubtator	17704260	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Costello syndrome (disorder)	Costello syndrome	BEFREE	17551924, 17567882, 17704260, 21784453, 26855057		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Craniodiaphyseal Dysplasia Autosomal Dominant	Craniodiaphyseal dysplasia	Pubtator	27955658	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18355814, 29669006		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	18031579		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28688265		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27955658, 30355600, 37869794	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26269521	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	15946934		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	24637312	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	25810299		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12239713, 12529707, 16474404, 17704260, 19156172, 20958325, 21654472, 22589294, 22753777, 24101678, 25423878, 27862862		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	19156172	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	24637312	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21720253	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	24064688		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24064688		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24064688	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25408231		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	22327936		★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	BEFREE	31123032		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29976575		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29976575		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34526571	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	37286356	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	19164283, 35468097, 36848349	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	19156172	Associate	★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	27098723	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	25810299, 31784089		★☆☆☆☆ Found in Text Mining only
Female Pseudo-Turner Syndrome	Noonan syndrome	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	20570892, 23354306		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	36864519	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	LHGDN	18617556		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19139124		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	36693681	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23190603, 26748241		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23190603, 32926734	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23190603, 26748241		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18398503, 19158480, 21364665	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19158480, 23645289		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	22429491	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37697378	Associate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	24241536		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	CTD_human_DG	24241536		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	19156172	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37234159	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31718075		★☆☆☆☆ Found in Text Mining only
Hematoma	Hematoma	Pubtator	34857025	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	34857025	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	BEFREE	26566875, 31768065		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	24982505, 25202140, 25899310, 26637772, 26637773, 26980021, 27076591, 27597420, 28084334, 28748614, 29194093, 29768711, 30923995		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29397067		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	35397126	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	27606810	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis pilaris	Hyperkeratosis Pilaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperproinsulinemia	Pubtator	24637312	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	18039235	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22198505, 31163979		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22198505, 31163979		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27486656	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	17331965	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	28617917	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27862862		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	19014680		★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	31891627	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	16051824		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22180573	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	18039235	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	18039235	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CLINVAR_DG	18042262		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	GENOMICS_ENGLAND_DG	16439621, 23321623, 23875798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	21784453, 25423878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG	23875798, 25423878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leopard Syndrome 1	LEOPARD Syndrome	GENOMICS_ENGLAND_DG	25423878		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15031205, 17218385, 19414379, 19773546, 30964176, 31056348, 37322258	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21912700, 22562245, 26990290, 27741509, 28031554, 31056348		★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	12576324, 24241536, 29955146	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	11238126	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11238126, 16467208	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11238126, 29857559, 31718075		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	25351745		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	18508479	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19816936, 23545258, 27955658, 29729697, 30217449		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25080058, 25794709	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19816936, 23545258		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	11166731, 20354455, 23362830, 24236184, 25351745, 31379227, 35709927, 37816716	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16820947		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	16912199		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	11229472		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	11229472		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11229472		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	11229472		★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	31718075		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	20117835, 34239803	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26961147, 28084334, 30365139		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	27325104, 28533310, 33211828, 37561599	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	29515122		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	29515122		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	CLINVAR_DG	18042262		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	24709918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	28688265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28334111		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	31467233		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10949153, 15695516, 20179161, 23530058, 23675882, 23900300, 24316974, 24993294		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29976575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	22180573		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24211253		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17069796, 18632602, 20354455, 22773810, 25351745, 25541062, 26582713, 28288818, 31577942, 9121773		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12644821, 25408231		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22833572, 26228206, 28178529, 28849200, 31242404		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12466969, 26983806, 29949147		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23921907, 25253779, 26081723, 29862663		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	17878251, 19411838, 20587665, 31533238		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22049531, 23217386		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12007959, 17218385, 17551924, 17631144, 18059185, 18060073, 19014680, 19157634, 19411838, 21810436, 22327936, 22588873, 23261356, 23414467, 23530058, 23603816, 23639941, 23948751, 24375836, 24692673, 24717435, 24938872, 26660078, 27769200, 28178630, 28456097, 28468827, 29461977, 29483135, 29716939, 29753091, 29915160, 30275173, 30377222, 30635233, 30944457, 31715422		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	27494873, 28534510		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19411838, 23027623, 24025253, 29915160, 31227518		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22765220, 30108112		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	12709419		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	12709419	Associate	★☆☆☆☆ Found in Text Mining only
Melanocytic nevus syndrome congenital	Melanocytic nevus	Pubtator	32847629	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12917419, 15557124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	15557124, 16170021, 18715233, 18826602, 19411838, 19915144, 22048237, 22197931, 22562245, 22588879, 23248257, 23603816, 24448821, 25370473, 25452114, 25472943, 25654738, 26105199, 26497853, 28112278, 28387310, 28548101, 28720543, 28756770, 28919996, 28986383, 29483645, 30118796, 30543563, 30804427, 30819666, 30956763, 31129802, 31662208, 31727888, 31730343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CLINVAR_DG	19915144, 21107320, 21383288, 22197931, 22588879, 22622578, 23444215, 23569304, 23614898, 24448821, 25157968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	22197931		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32483240, 34526571	Associate	★☆☆☆☆ Found in Text Mining only
Melorheostosis	Melorheostosis	BEFREE	29643386, 30138550, 30667555, 30989250		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	31129707		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21710492		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	34526571, 35319795	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22293660, 25370473, 25456393, 25597784, 26202951, 27172483, 31675726		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	28801450	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	33040161	Associate	★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17540843, 17854307, 21911831, 24594907	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29259009		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	31718075		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17218385, 26202951		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	27741509		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29447000		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	24609540	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22565394, 29364482		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29364482	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12356354, 15701882, 15809749, 16413470, 16682956, 18071319, 18533112, 19620247, 20959481, 21148749, 21179471, 21383288, 21447798, 21674991, 21710492, 21965271, 22180573, 22584435, 23441129, 23569304, 23979919, 25117978, 25253779, 26324360, 26566875, 27057633, 27071922, 27312529, 27741509, 28108460, 28655712, 28720543, 28931905, 30585255, 30640733, 30833748, 30930231, 31672841, 8968087		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	19915144, 23614898		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	26549023, 30615146		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17204142, 22948716, 26925841, 27613601, 27729458, 30874320, 31672841		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22142829, 26384788, 27613601, 34807483	Associate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	23455179		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	30615146		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	27494873	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CLINVAR_DG	18060073, 18632602, 25157968, 7651428		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18632602, 20354455, 21810436, 21973306, 22089115, 23277484, 23979919, 24068620, 25722381, 26837474, 26860843, 27467210, 29216787, 30448845, 30858179, 31200828		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	BEFREE	17603483, 20302979, 21784453, 25049390, 27862862, 31125963, 31163979		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CTD_human_DG	17703371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	LHGDN	17704260		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	17704260, 23321623, 23875798, 25049390, 27862862		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CLINVAR_DG	17704260, 18060073, 19411838, 22327936		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan syndrome	Pubtator	17704260, 18854871, 23321623, 25049390, 31163979, 38254922	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CTD_human_DG	17703371		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	18039235	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	15975850		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	15200485		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	22429491, 31221824		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	35961969	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	15375172	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26679893		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17412493	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21378337, 23262982, 23507142		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	22144664		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12644821, 25408231		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18060073		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12644821, 18060073, 26526982, 35840928	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22833572, 26228206, 28178529, 28849200, 31242404		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31583713		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31988090, 36999792	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	20587665, 25294906, 30065097		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	31535356		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36593912, 37339976	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	29565480	Associate	★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	31675726		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12466969, 26983806, 29949147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21081304, 22791812, 26983806, 29949147, 30575899	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32063702	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG	18042262		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	22180573		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16543392, 18243508, 21965271, 28212559, 29270287		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASCAT_DG	28598434		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31801908		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19818765, 31066041		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	21378337, 23354306		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18319075		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	18319075, 35492247	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	27636997		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35524774	Associate	★☆☆☆☆ Found in Text Mining only
Senile angioma	Angioma	BEFREE	21179471		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	27862862		★☆☆☆☆ Found in Text Mining only
Sinus histiocytosis	Sinus Histiocytosis	BEFREE	28664935		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	36448195	Associate	★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	26637772, 28551613		★☆☆☆☆ Found in Text Mining only
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	28769769		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	8968087		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30971268, 31100197		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24192080, 31827134, 32381551, 33051434, 34526571, 36007290	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35961969	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31827134		★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	22293660		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31784089		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25253779, 26081723, 29862663		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15655810, 19858308, 23921907, 28522256, 34526571, 36203485, 39806853	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG	16439621, 17366577, 17551924, 17567882, 17981815, 18042262, 19156172		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	18039235	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30978262, 31387935		★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	26727971		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	34526571	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19500021, 25294906, 31407636	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	17878251, 19411838, 20587665, 31533238		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	17878251, 19411838, 31533238		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19500021, 22090271, 30768848, 31407636	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22584435, 25959272, 28108460, 28486691		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30108112, 34168046	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome, Male	Turner Syndrome, Male	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	24709918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	28688265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22049531	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32196955	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	30138550	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only