STK11 (serine/threonine kinase 11)

Gene

• Entrez ID: 6794
• Gene name: Serine/threonine kinase 11
• Gene symbol: STK11
• Synonyms (NCBI Gene): LKB1, PJS, hLKB1
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2075607	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs9282859	C>G,T	Likely-benign, benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs112675807	G>A,C,T	Pathogenic	Splice acceptor variant
rs121913315	G>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121913316	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs121913317	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs121913319	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs121913320	TTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs121913321	CC>-,C,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs121913322	C>A,G,T	Likely-benign, benign-likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121913323	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs121913324	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs121913325	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs137853075	C>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs137853076	A>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs137853077	T>C	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137853078	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853079	C>A,G,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs137853080	T>G	Pathogenic	Coding sequence variant, missense variant
rs137853081	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs137853082	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs137853083	C>G,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs137854584	G>T	Pathogenic	Coding sequence variant, stop gained
rs148830698	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199681533	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs200078204	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200824447	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202011521	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Synonymous variant, coding sequence variant
rs368466538	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs370222210	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs370976710	G>A,C,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371264852	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs372329880	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs372511774	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373167735	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs376069854	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376280361	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397518440	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397518441	->T	Pathogenic	Coding sequence variant, frameshift variant
rs397518442	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397518443	AA>-,A	Pathogenic	Coding sequence variant, frameshift variant
rs398123405	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs398123406	G>C,T	Pathogenic	Splice acceptor variant
rs532889728	G>A	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs552610464	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs553752236	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs556651007	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs558040549	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs565993396	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs567202367	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs587776656	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776657	TCGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776658	G>A	Pathogenic	Splice acceptor variant
rs587776659	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776660	TCCGGCAGC>-	Pathogenic	Inframe indel, coding sequence variant
rs587776661	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587778695	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs587780009	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs587780013	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs587781537	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs587781633	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs587781856	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587782018	G>C,T	Pathogenic	Splice donor variant
rs587782259	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	3 prime UTR variant
rs587782364	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs587782424	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs727504171	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs727504172	A>C,T	Pathogenic	Splice acceptor variant
rs730881958	TCATCGGCAAGT>-	Pathogenic	Inframe indel, coding sequence variant
rs730881959	GCAGGAGGGCCGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs730881961	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs730881963	G>A,C	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs730881969	C>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs730881970	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs730881972	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730881973	C>A,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730881976	C>A,G	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs730881979	G>A	Pathogenic	Coding sequence variant, missense variant
rs755126393	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs755746417	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs759090799	ATGAA>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Splice acceptor variant, intron variant
rs759284466	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant
rs760399253	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs764244639	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs764449808	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs767565606	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs768058962	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs774072752	G>T	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs774100153	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs775595174	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs778376925	C>A,G,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs786200991	->G	Pathogenic	Frameshift variant, coding sequence variant
rs786201090	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs786201213	C>A,T	Likely-pathogenic, likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs786201349	C>G,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs786202134	C>A,G,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs786203624	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205864	->C	Pathogenic	Frameshift variant, coding sequence variant
rs863224448	G>A	Likely-pathogenic	Splice acceptor variant
rs863224669	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs864622488	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs864622707	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658584	A>G	Pathogenic	Splice acceptor variant
rs876661012	->A	Pathogenic	Coding sequence variant, stop gained
rs878853247	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs878853984	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs878853985	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs886037859	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs886037926	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886039554	G>T	Likely-pathogenic, pathogenic	Splice donor variant
rs886041996	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs927999961	T>-,TT	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs1057517830	G>A	Pathogenic	Splice acceptor variant
rs1057518830	CTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1057519858	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520017	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520018	T>C	Likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs1057520038	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520039	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1057520040	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520041	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520042	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520379	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520606	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057524439	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1060499956	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs1060499958	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1060499960	ACCGGTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060499961	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503786	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs1064793427	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794805	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1085307466	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131690916	ATGGGGGACCTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1131690917	GGG>-,G,GGGG	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant, inframe deletion
rs1131690920	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1131690921	G>T	Pathogenic	Splice donor variant
rs1131690922	->ACCT	Pathogenic	Coding sequence variant, frameshift variant
rs1131690923	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131690924	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690925	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131690926	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690929	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1131690930	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1131690931	A>C	Likely-pathogenic	Splice acceptor variant
rs1131690933	->GAAGC	Pathogenic	Coding sequence variant, frameshift variant
rs1131690934	A>G	Pathogenic	Splice acceptor variant
rs1131690935	GGTTCTCCATCCGGCAGA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1131690936	GGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690938	A>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1131690939	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1131690940	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131690941	T>C	Likely-pathogenic	Splice donor variant
rs1131690944	A>G	Likely-pathogenic	Splice acceptor variant
rs1131690945	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131690946	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1131690947	C>-	Pathogenic	Coding sequence variant, stop gained
rs1131690948	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690949	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1131690950	G>A,C	Pathogenic	Splice donor variant
rs1131690951	A>G	Pathogenic	Splice donor variant
rs1131690952	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1131690953	CCTGCTGGGGGA>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs1407794756	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1471868090	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs1555734904	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555735001	->AC	Pathogenic	Frameshift variant, coding sequence variant
rs1555735008	C>-	Pathogenic	Coding sequence variant, stop gained
rs1555735014	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555735080	GTAAGTA>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1555737444	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555737480	T>C	Likely-pathogenic	Splice donor variant
rs1555737814	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555737830	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1555738205	C>G,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs1555738219	->GGACATCA	Pathogenic	Frameshift variant, coding sequence variant
rs1555738319	G>A	Likely-pathogenic	Splice acceptor variant
rs1555738475	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555738656	->GA	Pathogenic	Frameshift variant, coding sequence variant
rs1555738667	C>-	Pathogenic	Coding sequence variant, stop gained
rs1555738683	T>AC	Pathogenic	Frameshift variant, coding sequence variant
rs1555738723	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738863	CCAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555738874	->TCCATCC	Pathogenic	Frameshift variant, coding sequence variant
rs1555738899	CA>TCC	Pathogenic	Frameshift variant, coding sequence variant
rs1568689930	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1568689994	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568690161	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1568690546	TAA>-	Likely-pathogenic	Intron variant, splice donor variant
rs1568708275	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1568708382	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1568709203	->TACAAGTT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568710381	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1599915131	TGCTGGACTCGGAGACGCTGTGCAGGAGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599915235	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599924500	TCCTCTCTGTCCCAGGG>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1599925303	G>T	Pathogenic	Coding sequence variant, stop gained
rs1599926521	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599927564	->TGTA	Pathogenic	Frameshift variant, coding sequence variant
rs1599927573	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1599927589	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599927622	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599927645	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599927689	->ACTGTGG	Pathogenic	Frameshift variant, coding sequence variant
rs1599928360	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1599929258	TGGTTCCGGA>CC	Pathogenic	Frameshift variant, coding sequence variant
rs1599929264	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599929328	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599929335	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599929339	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1599929369	AC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020252	hsa-miR-130b-3p	Sequencing	20371350
MIRT028122	hsa-miR-93-5p	Sequencing	20371350
MIRT050817	hsa-miR-17-5p	CLASH	23622248
MIRT052942	hsa-miR-199a-3p	Luciferase reporter assay, Western blot	22265968
MIRT052942	hsa-miR-199a-3p	Luciferase reporter assay, Western blot	22265968
MIRT570514	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT570513	hsa-miR-3141	PAR-CLIP	20371350
MIRT570512	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT570511	hsa-miR-4767	PAR-CLIP	20371350
MIRT492157	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT492156	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT492154	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT492155	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT492161	hsa-miR-4446-3p	PAR-CLIP	23592263
MIRT492160	hsa-miR-6890-3p	PAR-CLIP	23592263
MIRT492159	hsa-miR-4721	PAR-CLIP	23592263
MIRT492158	hsa-miR-604	PAR-CLIP	23592263
MIRT492157	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT492156	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT492154	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT492155	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT492153	hsa-miR-6829-5p	PAR-CLIP	23592263
MIRT492152	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT492151	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492150	hsa-miR-5698	PAR-CLIP	23592263
MIRT492149	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492148	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT492146	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT492147	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT028122	hsa-miR-93-5p	Luciferase reporter assay	28382150
MIRT028122	hsa-miR-93-5p	Luciferase reporter assay	28382150
MIRT028122	hsa-miR-93-5p	Luciferase reporter assay	28382150
MIRT028122	hsa-miR-93-5p	Luciferase reporter assay	28382150
MIRT570514	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT570513	hsa-miR-3141	PAR-CLIP	20371350
MIRT570512	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT570511	hsa-miR-4767	PAR-CLIP	20371350
MIRT492157	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT492156	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT492154	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT492155	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT492161	hsa-miR-4446-3p	PAR-CLIP	23592263
MIRT492160	hsa-miR-6890-3p	PAR-CLIP	23592263
MIRT492159	hsa-miR-4721	PAR-CLIP	23592263
MIRT492158	hsa-miR-604	PAR-CLIP	23592263
MIRT492157	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT492156	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT492154	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT492155	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT492153	hsa-miR-6829-5p	PAR-CLIP	23592263
MIRT492152	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT492151	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492150	hsa-miR-5698	PAR-CLIP	23592263
MIRT492149	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492148	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT492146	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT492147	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT1397196	hsa-miR-1255a	CLIP-seq
MIRT1397197	hsa-miR-1255b	CLIP-seq
MIRT1397198	hsa-miR-1299	CLIP-seq
MIRT1397199	hsa-miR-1470	CLIP-seq
MIRT1397200	hsa-miR-1471	CLIP-seq
MIRT1397201	hsa-miR-1908	CLIP-seq
MIRT1397202	hsa-miR-2115	CLIP-seq
MIRT1397203	hsa-miR-3130-3p	CLIP-seq
MIRT1397204	hsa-miR-3177-3p	CLIP-seq
MIRT1397205	hsa-miR-3663-5p	CLIP-seq
MIRT1397206	hsa-miR-3676	CLIP-seq
MIRT1397207	hsa-miR-3682-3p	CLIP-seq
MIRT1397208	hsa-miR-4433	CLIP-seq
MIRT1397209	hsa-miR-4459	CLIP-seq
MIRT1397210	hsa-miR-4479	CLIP-seq
MIRT1397211	hsa-miR-4768-3p	CLIP-seq
MIRT1397212	hsa-miR-4782-5p	CLIP-seq
MIRT1397213	hsa-miR-4793-3p	CLIP-seq
MIRT1397214	hsa-miR-516b	CLIP-seq
MIRT1397215	hsa-miR-663	CLIP-seq
MIRT1397216	hsa-miR-767-5p	CLIP-seq
MIRT2118976	hsa-miR-1205	CLIP-seq
MIRT2118977	hsa-miR-1291	CLIP-seq
MIRT1397199	hsa-miR-1470	CLIP-seq
MIRT2118978	hsa-miR-1909	CLIP-seq
MIRT2118979	hsa-miR-3173-5p	CLIP-seq
MIRT1397199	hsa-miR-1470	CLIP-seq
MIRT2341278	hsa-miR-532-3p	CLIP-seq
MIRT2341279	hsa-miR-662	CLIP-seq
MIRT2692231	hsa-miR-4484	CLIP-seq
MIRT2692232	hsa-miR-4740-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFYA	Unknown	22412893
NFYB	Unknown	22412893
NKX2-1	Repression	23995788
NR1H4	Activation	22265968
SP1	Unknown	22412893;23995788
STAT3	Unknown	24913037
STAT5A	Unknown	24913037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	12805220
GO:0001558	Process	Regulation of cell growth	IEA
GO:0001558	Process	Regulation of cell growth	ISS
GO:0001894	Process	Tissue homeostasis	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0001944	Process	Vasculature development	ISS
GO:0002039	Function	P53 binding	IDA	11430832
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	11430832, 12805220, 19892943
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	9428765
GO:0005515	Function	Protein binding	IPI	12595760, 12753905, 12805220, 14676191, 17216128, 19274086, 19513107, 19892943, 20562859, 22575644, 22939624, 24362629, 25036637, 25241761, 25329316, 25852190, 26479318, 28514442, 32707033, 33961781, 34591612, 35271311
GO:0005524	Function	ATP binding	IDA	12805220
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12805220, 18854309
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11430832, 12805220, 14517248, 17216128, 18854309
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	IDA	11430832
GO:0005739	Component	Mitochondrion	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IDA
GO:0006468	Process	Protein phosphorylation	IDA	12805220, 25329316
GO:0006468	Process	Protein phosphorylation	TAS	9428765
GO:0006470	Process	Protein dephosphorylation	IMP	15731909
GO:0006914	Process	Autophagy	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	25329316
GO:0007165	Process	Signal transduction	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	17216128, 25329316
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010212	Process	Response to ionizing radiation	ISS
GO:0010508	Process	Positive regulation of autophagy	IMP	23878245
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	12805220
GO:0030010	Process	Establishment of cell polarity	IBA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030010	Process	Establishment of cell polarity	IMP	24643070
GO:0030010	Process	Establishment of cell polarity	ISS
GO:0030111	Process	Regulation of Wnt signaling pathway	IBA
GO:0030111	Process	Regulation of Wnt signaling pathway	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030275	Function	LRR domain binding	IEA
GO:0030295	Function	Protein kinase activator activity	IDA	19892943
GO:0030295	Function	Protein kinase activator activity	IEA
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030308	Process	Negative regulation of cell growth	ISS
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	18311138
GO:0032147	Process	Activation of protein kinase activity	IDA	18854309
GO:0032147	Process	Activation of protein kinase activity	IMP	15731909
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0043276	Process	Anoikis	IMP	19622832
GO:0045059	Process	Positive thymic T cell selection	IEA
GO:0046777	Process	Protein autophosphorylation	IDA	11430832
GO:0046872	Function	Metal ion binding	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0051645	Process	Golgi localization	IEA
GO:0051726	Process	Regulation of cell cycle	TAS
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060767	Process	Epithelial cell proliferation involved in prostate gland development	IEA
GO:0060770	Process	Negative regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070314	Process	G1 to G0 transition	IDA	17216128
GO:0070314	Process	G1 to G0 transition	IPI	12805220
GO:0071493	Process	Cellular response to UV-B	IDA	25329316
GO:0071493	Process	Cellular response to UV-B	IEA
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IDA	11430832
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	15731909
GO:0097484	Process	Dendrite extension	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	27461402
GO:0140535	Component	Intracellular protein-containing complex	IDA	12805220
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1901610	Process	Positive regulation of vesicle transport along microtubule	IBA
GO:1901610	Process	Positive regulation of vesicle transport along microtubule	IEA
GO:1901610	Process	Positive regulation of vesicle transport along microtubule	IMP	24643070
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1902554	Component	Serine/threonine protein kinase complex	IPI	19892943
GO:1902554	Component	Serine/threonine protein kinase complex	ISS
GO:1904262	Process	Negative regulation of TORC1 signaling	IMP	23878245

Other IDs

• MIM: 602216
• HGNC: 11389
• e!Ensembl: ENSG00000118046

Protein

• UniProt ID: Q15831
• Protein name: Serine/threonine-protein kinase STK11 (EC 2.7.11.1) (Liver kinase B1) (LKB1) (hLKB1) (Renal carcinoma antigen NY-REN-19)
• Protein function: Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage respo
• PDB: 2WTK, 4ZDR, 5WXN, 8VSU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	49 → 309	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Strongest expression in testis and fetal liver.
• Sequence:

  MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSY
  GKVKEVLDSETLCRRAVKILKKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNE
  EKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQLIDGLEYLHSQGIVHKDIKPG
  NLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
  AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSI
  RQIRQHSWFRKKHPPAEAPVPIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDI
  IYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQLSTKSRAEGRAPNPARKACSA
  SSKIRRLSACKQQ

• Sequence length: 433

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
Carcinoma of pancreas	Likely pathogenic; Pathogenic	rs730881976, rs137853079, rs397518442, rs397518443, rs730881975	RCV000763422 RCV000007878 RCV000007879 RCV000007880 RCV001197734	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial adenomatous polyposis 1	Likely pathogenic	rs2145426900	RCV002267182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial ovarian cancer	Pathogenic	rs121913321, rs112675807	RCV005361064 RCV005359765	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial pancreatic carcinoma	Likely pathogenic	rs730881972, rs864622488	RCV005394564 RCV005396642	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic	rs1131690950, rs1555737480, rs2145431441	RCV005923929 RCV003164590 RCV003164592	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized juvenile polyposis/juvenile polyposis coli	Likely pathogenic	rs2145420502	RCV001355139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Germ cell tumor of testis	Pathogenic; Likely pathogenic	rs2145427067, rs730881972, rs864622488	RCV001542798 RCV005394564 RCV005396642	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs771049807, rs2145422531, rs587782018, rs2145428733, rs2145430970, rs2145428869, rs587781856, rs876661012, rs148928808, rs2512940524, rs730881971, rs2512942351, rs886039554, rs2512942525, rs2145424658, rs2512943480, rs2145424136, rs730881958, rs730881959, rs730881969, rs587782424, rs730881970, rs730881972, rs730881979, rs730881976, rs2512943535, rs2512946804, rs2512945289, rs2512945308, rs2080788003, rs2512948819, rs2512943618, rs9282859, rs2512946690, rs2512943858, rs2512946604, rs1131690917, rs2512948998, rs2512921687, rs2512921705, rs2512920956, rs2512921774, rs786202134, rs786203624, rs786201090, rs2145431441, rs121913315, rs121913321, rs2512921207, rs587776658, rs137853076, rs587776659, rs137853077, rs137853078, rs397518440, rs876658584, rs2512942783, rs886037859, rs886041996, rs137853082, rs112235354, rs2145424194, rs786202466, rs1057520042, rs2512920978, rs398123406, rs1057517830, rs121913320, rs121913324, rs775595174, rs786201213, rs1064793427, rs1131690930, rs1131690924, rs778376925, rs1131690936, rs1131690929, rs1131690950, rs1131690933, rs1131690925, rs1131690952, rs1131690951, rs1131690926, rs1131690931, rs1131690922, rs1131690939, rs730881973, rs1131690934, rs1131690946, rs1131690923, rs1131690940, rs878853247, rs1131690941, rs1131690948, rs1131690949, rs1131690921, rs1131690944, rs1131690947, rs1131690935, rs376280361, rs1131690945, rs1131690920, rs1555737444, rs1555734904, rs137853079, rs864622488, rs1555735008, rs1555738319, rs1555738656, rs1568707668, rs1568690546, rs1599929369, rs1555738205, rs1599915235, rs1599925303, rs1599926521, rs1057520379, rs1599927622, rs1599927645, rs1599927689, rs1599929258, rs112675807, rs1555737439, rs2080787333, rs2080673579, rs121913319, rs398123405	RCV005493039 RCV005493040 RCV002384545 RCV006287433 RCV004037711 RCV005493124 RCV000130164 RCV000130447 RCV002257205 RCV002373063 RCV002330392 RCV002342608 RCV002330459 RCV002356090 RCV002330711 RCV002353450 RCV002361887 RCV002337663 RCV000160967 RCV000160968 RCV000492214 RCV000161008 RCV000492356 RCV002334752 RCV000492450 RCV002345554 RCV000160995 RCV002375910 RCV002371245 RCV002430149 RCV002412566 RCV002378781 RCV002385391 RCV002369353 RCV002421462 RCV002376421 RCV002380209 RCV002375949 RCV002405390 RCV002401136 RCV002450596 RCV002452753 RCV002424339 RCV002437319 RCV000164794 RCV000167017 RCV001183047 RCV003164591 RCV000492479 RCV002444692 RCV005288830 RCV002372183 RCV005286010 RCV000132431 RCV004018586 RCV000492681 RCV000492740 RCV000492134 RCV002354151 RCV000222975 RCV003187696 RCV003203531 RCV000492112 RCV000492737 RCV005742021 RCV006287174 RCV003293654 RCV003360632 RCV003360637 RCV004518467 RCV004676348 RCV000492537 RCV000492178 RCV000492099 RCV000492327 RCV000492505 RCV000492438 RCV002367637 RCV002374885 RCV000492722 RCV000492692 RCV000492531 RCV000492762 RCV000492522 RCV000492429 RCV000492465 RCV000492614 RCV000492296 RCV000492251 RCV000492673 RCV000492655 RCV000492754 RCV000492282 RCV000492215 RCV000492647 RCV000492674 RCV000492574 RCV000492160 RCV000492400 RCV000492208 RCV000492258 RCV000492482 RCV000492457 RCV000492086 RCV000492232 RCV000492368 RCV000492404 RCV000492497 RCV000492598 RCV000492152 RCV000492320 RCV000492604 RCV000492545 RCV000563941 RCV000568657 RCV000574820 RCV000584565 RCV001178644 RCV002404753 RCV003362870 RCV005742082 RCV002343400 RCV002343505 RCV001016914 RCV000772564 RCV004949999 RCV001015503 RCV001021366 RCV001023827 RCV001026060 RCV001026963 RCV001027134 RCV001027387 RCV001019033 RCV001016940 RCV005492933 RCV005742173 RCV001185859 RCV002436817 RCV002436941 RCV000492387 RCV004678606 RCV005286024	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intestinal polyposis	Likely pathogenic	rs1057518830	RCV000415408	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs863224448, rs587782018, rs730881971, rs1131690931, rs112675807	RCV005912579 RCV005886914 RCV005922893 RCV005899758 RCV005901700	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of testis	Likely pathogenic; Pathogenic	rs730881976, rs137853078	RCV000763422 RCV000007874	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic; Likely pathogenic	rs121913321, rs2512921105, rs2512940408, rs1060499964	RCV003995678 RCV004011265 RCV004011266 RCV004011267	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma, cutaneous malignant, susceptibility to, 1	Likely pathogenic; Pathogenic	rs2145404496, rs2145426930, rs730881972, rs864622488, rs121913315, rs121913323, rs137853080, rs137853081, rs2512955106, rs1057520039	RCV003464277 RCV002246746 RCV005394564 RCV005396642 RCV000007876 RCV000007881 RCV000007882 RCV000007883 RCV003466420 RCV003459509	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs587782018, rs730881971, rs786201090, rs1060499964, rs121913321, rs1131690921	RCV005229964 RCV006274268 RCV005230004 RCV006274420 RCV004668976 RCV004669005	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian sex cord-stromal tumor	Pathogenic	rs137853076	RCV006253452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periorbital hyperpigmentation	Likely pathogenic	rs1057518830	RCV000415408	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peutz-Jeghers syndrome	Likely pathogenic; Pathogenic	rs863224448, rs2145405146, rs112675807, rs2145420699, rs771049807, rs2145420792, rs2145422531, rs2145425021, rs2145425162, rs587782018, rs1226608647, rs2145428733, rs2145430970, rs2145426686, rs2145420751, rs2145405118, rs2145424716, rs2145420680, rs121913321, rs2145405064, rs2145424635, rs2145424620, rs2145428869, rs2145424662, rs2145422371, rs1131690950, rs2145404947, rs2145428787, rs2145422504, rs2145420765, rs2080669968, rs2145424194, rs2145425286, rs2145426910, rs2145404496, rs2145430693, rs2145430705, rs148928808, rs886041996, rs2145424136, rs587782424, rs730881970, rs730881971, rs730881972, rs730881979, rs730881973, rs730881976, rs730881978, rs730881984, rs9282859, rs1131690917, rs786202134, rs786201090, rs2145431441, rs121913315, rs2145425576, rs553975112, rs2512945234, rs398123406, rs786205864, rs2512945334, rs2512940206, rs1131690920, rs2512921207, rs2512949109, rs2145428724, rs2512942605, rs2512940396, rs2145428911, rs864622707, rs864622488, rs137853075, rs587776656, rs587776657, rs587776658, rs137853076, rs587776659, rs137853077, rs587776660, rs137854584, rs397518440, rs397518441, rs397518442, rs121913323, rs137853082, rs587776661, rs137853083, rs876661012, rs876658584, rs2512938339, rs886037926, rs886037859, rs886039554, rs786202466, rs112235354, rs1131690921, rs2512949131, rs2512943788, rs2512943286, rs2512945253, rs1057520042, rs2512943483, rs2512940172, rs2512946669, rs2512945021, rs2512943770, rs2512946767, rs2512920785, rs2512942495, rs2512948805, rs2512942924, rs2145435791, rs1555738205, rs2512921641, rs2512954838, rs2512921949, rs2512948940, rs786202471, rs2512954729, rs2512938117, rs2512945137, rs2512945065, rs2512920978, rs1057517830, rs121913320, rs1555737814, rs121913324, rs121913317, rs1057520041, rs1057520606, rs397518443, rs1060499961, rs1060499960, rs775595174, rs786201213, rs1064793427, rs1085307466, rs778376925, rs1131690925, rs1131690951, rs1131690926, rs1131690939, rs1131690934, rs1131690946, rs1131690923, rs1131690940, rs1131690949, rs376280361, rs1131690945, rs1555735014, rs727504172, rs1555738475, rs1555735001, rs1555738863, rs1555738219, rs1555735080, rs1555738667, rs137853079, rs1555738723, rs1555735008, rs1555737790, rs1057520039, rs786201349, rs1555738319, rs1555738874, rs1555738656, rs1555738683, rs1555738899, rs1568707668, rs1568689994, rs1568690546, rs878853992, rs1568689930, rs1568690161, rs1599915131, rs1599927564, rs1599927573, rs1599929335, rs1599929339, rs1599924500, rs1599928360, rs1599927589, rs1599926521, rs2080670808, rs2080673271, rs2080673604, rs1555737439, rs2080765290, rs2080776848, rs730881975, rs2080673579, rs2080758521, rs2080776017, rs2080795769, rs2080796043, rs2080670725, rs121913319, rs398123405	RCV001376748 RCV001389758 RCV001389316 RCV001387076 RCV001389317 RCV001386418 RCV001389318 RCV001389447 RCV001386590 RCV001380249 RCV001384681 RCV001381098 RCV001391230 RCV001838842 RCV001936713 RCV001877147 RCV001864977 RCV001994600 RCV001904379 RCV001970180 RCV001888255 RCV002041100 RCV001878747 RCV001986006 RCV001993197 RCV001864373 RCV001994478 RCV002016309 RCV001951192 RCV001949534 RCV001890059 RCV001972514 RCV001927648 RCV001892030 RCV001992664 RCV001916542 RCV001849934 RCV002243552 RCV003101532 RCV002294600 RCV003507415 RCV000703819 RCV004019944 RCV001904587 RCV005394564 RCV000429467 RCV004796592 RCV000763422 RCV004437823 RCV001062236 RCV004796727 RCV004059120 RCV001850304 RCV000435642 RCV003235727 RCV000168375 RCV003064528 RCV003064529 RCV003050509 RCV003041338 RCV000172825 RCV000172824 RCV002846738 RCV002844047 RCV002872251 RCV002871366 RCV002876047 RCV002966525 RCV000199530 RCV000196256 RCV002999966 RCV003038678 RCV003017386 RCV000205945 RCV000205568 RCV000007865 RCV000007866 RCV000007867 RCV000007868 RCV000007869 RCV000007870 RCV000007871 RCV000007872 RCV000007873 RCV000007875 RCV000007877 RCV001042420 RCV002512881 RCV000007884 RCV000007885 RCV000007886 RCV001808581 RCV000632841 RCV003128554 RCV000240843 RCV000241351 RCV000700997 RCV002519067 RCV000796535 RCV003236430 RCV003507494 RCV003316947 RCV003485928 RCV003338153 RCV003508093 RCV003508873 RCV003508874 RCV003507230 RCV003506981 RCV003507762 RCV003507754 RCV003618367 RCV003618753 RCV003617520 RCV003619011 RCV003867381 RCV003991926 RCV004439987 RCV004440198 RCV004440205 RCV004440285 RCV004440322 RCV004440403 RCV004440412 RCV004442484 RCV004442504 RCV004442514 RCV005052084 RCV004589314 RCV004589335 RCV001808786 RCV001380725 RCV000632833 RCV000656431 RCV005052144 RCV000553835 RCV004796174 RCV005052143 RCV003138001 RCV000474608 RCV000474843 RCV000466541 RCV000464957 RCV001809438 RCV000807012 RCV001865435 RCV004023237 RCV000550769 RCV000540715 RCV000533344 RCV001856951 RCV001214909 RCV004796196 RCV003617817 RCV000819570 RCV001389743 RCV005091033 RCV001269112 RCV000557192 RCV000990129 RCV000807365 RCV003507284 RCV001386709 RCV000709574 RCV000804860 RCV000664331 RCV000515491 RCV000525862 RCV000537729 RCV000542348 RCV000554906 RCV000552113 RCV003507297 RCV001809686 RCV000586390 RCV000813229 RCV000632819 RCV000632845 RCV000632832 RCV000632808 RCV000632836 RCV000632807 RCV000632838 RCV000632803 RCV000632804 RCV002289947 RCV000698721 RCV000707328 RCV000689283 RCV000690196 RCV000696998 RCV000709570 RCV000778089 RCV000796991 RCV000818713 RCV000798408 RCV000812140 RCV000823781 RCV000815167 RCV000810792 RCV000813551 RCV001860501 RCV004030844 RCV001052181 RCV001043113 RCV001057998 RCV001067850 RCV001056706 RCV001067108 RCV001037969 RCV001041182 RCV001377432 RCV005866845 RCV001212374 RCV001209963 RCV001232825 RCV001237781 RCV001239930 RCV001239135 RCV001264565 RCV001808309 RCV005051747	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STK11-related disorder	Likely pathogenic; Pathogenic	rs376280361, rs1599925303	RCV004722832 RCV004726787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis, distal, with impaired proprioception and touch	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile duct cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast and/or ovarian cancer	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast cancer, susceptibility to	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of colon	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL NEOVASCULARIZATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal rhabdomyosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial adenomatous polyposis 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and oral cavity carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of brain	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA, CUTANEOUS MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple endocrine neoplasia, type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CANCER	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pigmentary skin disorders	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	10362809, 11389158, 12097271, 12861065, 16822578, 17404884, 17711506, 20712528, 22768234, 24054548, 25175672, 25278450, 26574479, 26701726, 29219616, 29370903, 29525853, 30033530, 30483811, 30885352, 30978501, 9850045		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12097271, 12533684, 17384680, 17676035, 18594528		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	17676035		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	12097271, 15077168, 15639728, 17010524, 17384680, 17676035, 17711506, 18199555, 19347029, 20207041, 20559149, 20616618, 20855837, 21191700, 23235348, 23572524, 23995788, 24054548, 24419424, 24448687, 24793789, 24828662, 25115923, 25465874, 25695224, 25737507, 26363011, 26477306, 26574479, 26917230, 27687306, 27821489, 28284717, 28289710, 28376202, 28387316, 28435024, 28754670, 28884744, 29223537, 29773717, 29967073, 30033530, 30185829, 30230541, 30268834, 30617039, 30995715, 31322182, 31350327		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	17676035		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	24793789		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	11733352		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	17676035		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	17676035		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	17676035		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10398131, 10398133, 23825589, 29525853		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	20428811		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29309780		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	25695224		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26972770, 29050265		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30873920		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	37495171	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	28911955	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	20452353, 26015068		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30935996		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	26972770, 29050265		★☆☆☆☆ Found in Text Mining only
Apnea	Apnea	Pubtator	35768580	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28827412, 29035613		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36759597, 37174663	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30940876		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15367334	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	15516847, 29309780, 31114366		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28827412, 29035613		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36627571	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	25773299, 31415862		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28621313		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35849255	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28435024, 29050265		★☆☆☆☆ Found in Text Mining only
Bannayan-Riley-Ruvalcaba Syndrome	Bannayan-Riley-Ruvalcaba Syndrome	BEFREE	15987703		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	16084949		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of testis	Benign Neoplasm Of Testis	CGI_DG			★☆☆☆☆ Found in Text Mining only
Benign tumor of pancreas	Benign Tumor Of Pancreas	CGI_DG			★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	10362809, 12861065, 19029933		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasm	Biliary Tract Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19789314, 22457270, 30549029		★☆☆☆☆ Found in Text Mining only
Bladder polyp	Bladder polyp	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11212897		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	10852375, 24306927, 25736863		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10644993, 10852375, 12114407, 15334548, 15714005, 15784178, 17114342, 19483724, 20722467, 22353783, 23861764, 24615515, 25178656, 25605744, 26359358, 26458553, 26718214, 26877155, 28011157, 28071670, 28419251, 28581518, 28696138, 28700115, 28931725, 30054559, 30289978, 30689838, 30696074, 31206626, 9537235, 9690990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	11064676, 12865922, 18794113, 19369417, 19483724, 20418665, 21294903, 22562547, 23155392, 23409019, 24498881, 24830819, 24913037, 25178656, 26534844, 26877155, 28011157, 28071670, 28407996, 28419251, 28550065, 28891274, 29566768, 30054559, 30289978, 31206626, 33560870, 34299313, 34866136, 39226054, 40523834	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	15639728, 21816872		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10362809, 16407837, 22801477, 25633809, 28720067, 28813465, 29370903, 32396674, 33149122, 33219302, 34921839, 9708796	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25674212, 26877155	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10398133, 10644993, 11212897, 11215281, 14623934, 15077168, 16189157, 16822578, 17641416, 19229701, 21656073, 23430953, 23825589, 24792998, 9683800		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	34810298	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22168747, 23679304, 33082400, 33219302, 35961004, 37787988	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	26317919, 26960398, 29535388, 30978501, 33031101	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22457270, 30549029		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29151940		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12649203, 16822578, 16912160, 16953221, 17384680, 17676035, 17711506, 18483235, 18728656, 19176640, 19204826, 19229701, 19287990, 20010869, 20207041, 20956321, 21516316, 22088465, 22576699, 23074285, 23235348, 23276293, 23715154, 23825589, 24146957, 24419424, 24448687, 24647869, 24659339, 24828662, 25122068, 25465874, 25737507, 26625312, 26701726, 27140397, 27431571, 28387316, 28504720, 28598439, 28720067, 28813465, 29138862, 29249655, 29305497, 29540834, 29573522, 29909489, 29963200, 30033530, 30297358, 30297789, 30423141, 30692209, 30784288, 30825612, 30995715, 31217475, 31232177, 31285420, 31333780, 31406302, 31697874		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26068970	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26015068, 26887594, 35752568, 36978154, 38086003	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25179843, 25969368	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21191146, 22768234, 24810493, 25738363, 28145643, 29980281, 32345599, 35621648, 35709927	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	21272562		★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	17676035		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	17676035		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17761947, 24170201, 25420630, 25510663, 26068970, 31744879		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	26887594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29035613		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	21357941		★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	29463997		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29302794		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19340305, 19724060, 20193846, 21926085, 22735790, 24285539, 24792998, 25155037, 27546620, 30222967		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	19340305, 21926085, 22735790, 24285539, 24792998, 25155037, 27546620, 30222967, 31781355		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	26056085, 26517522, 34810298, 37369462	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	26160843		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	32653521, 35856436	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	26689699		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29449563, 31317311		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29925518, 31636950		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	23322200		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	29463997		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29352002, 30359174		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10676634, 20400510, 24879590, 30913862, 9731485, 9809980		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31243107	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	23399955	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10429655, 10676634, 10896921, 11355940, 20622004, 24879590, 26169059, 27908725, 29967336, 30362049, 30483811, 31040884, 9690990, 9809980		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10429655, 10896921, 20622004, 22168747, 26797410, 29141581, 29307989, 29967336, 30913862, 37116137, 9708796	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10676634, 24879590, 9605748, 9731485		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29436644, 30299561		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	20357370	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31415862		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	22987620		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23322200, 25179843, 29956793		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28349069		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28349069		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28349069	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28349069		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cronkhite-Canada Syndrome	Cronkhite-Canada Syndrome	CTD_human_DG	18311138		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	18067639		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	22698401, 28781649		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	26768676		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17010524, 23352126, 23706335, 26345094		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	23706335	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17010524, 23352126, 23706335, 26345094		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23706335, 26345094	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28349069	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16530014, 17950019, 18387000, 28349069		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29330340, 29449563		★☆☆☆☆ Found in Text Mining only
Digestive System Disorders	Digestive System Disorders	BEFREE	29637416		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	25042259		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	31240473		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22635025, 22916036, 24322983, 25042259, 26027660, 26413869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22635025	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25042259, 26027660, 31308508, 36140779	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	BEFREE	27910069		★☆☆☆☆ Found in Text Mining only
Enlarged polycystic ovaries	Enlarged polycystic ovaries	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24260271	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	29483507		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26068970, 31744879		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	20712528, 24022664, 24676538, 28656285		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	20712528, 24022664, 24676538, 28656285, 29370903		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24022664	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	29370903	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35463992, 37080995	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	29563804		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	29370903		★☆☆☆☆ Found in Text Mining only
Familial Retinoblastoma	Retinoblastoma	BEFREE	23463749		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31608624		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	20815019		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	28299850		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	27748285		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	BEFREE	16084949		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30093459		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	31798532		★☆☆☆☆ Found in Text Mining only
Gallbladder anomaly congenital	Congenital Gallbladder Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	30015925		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24508317, 32045060, 32839463	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	16733653		★☆☆☆☆ Found in Text Mining only
Gastrointestinal carcinoma	Gastrointestinal carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	26430231, 35189935	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	20497868	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	10353780, 10429655, 12865922, 16407375, 32396674, 32799895	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31497348		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31497348		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25399650, 28454310, 31040689		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25399650, 26488897	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease IB	Glycogen storage disease	Pubtator	35961004	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	35961004	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	25695224	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	33493135	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	31664223		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	BEFREE	24037887		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	10201537, 10353780, 10389980, 10398131, 10398133, 10429655, 10644993, 10852375, 11355940, 11733352, 12051537, 12218179, 15261137, 15287029, 18600394, 19177005, 21813469, 23430953, 26169059, 28986664, 9708796, 9850045		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	15987703, 9708796		★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	BEFREE	10079245, 10208439, 10502830, 14623934, 15287029, 15987703, 16287113, 16407375, 16616343, 17921699, 18600394, 23337932, 23399955, 24652667, 30689838, 9887330, 9934767		★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20818976, 23810581		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32911741	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31415862		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	25846811	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria Benign Familial	Hematuria	Pubtator	23679304	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	34828353	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25178656, 29496690, 30623411, 33646313, 37563628, 39684258	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	11561603, 25980754		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	31317311		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	20357370, 31433577		★☆☆☆☆ Found in Text Mining only
Hypercapnia	Hypercapnia	Pubtator	35768580	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16308421, 16530014, 31113861		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	23027127	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	19289642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	29035613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22844503, 30710502		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30710502		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35768580	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	39228019	Inhibit	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	31418107	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal obstruction	Pubtator	37377590	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	CTD_human_DG	18311138		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Polyposis	Intestinal polyposis	Pubtator	23399955	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Polyposis	Intestinal Polyposis	BEFREE	30049881		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Polyposis	Intestinal Polyposis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Polyps	Intestinal polyps	Pubtator	10362809, 27721366	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	26056085, 26517522		★☆☆☆☆ Found in Text Mining only
Intussusception	Intussusception	BEFREE	16882735		★☆☆☆☆ Found in Text Mining only
Intussusception	Intussusception	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intussusception	Intussusception	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	29228674		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	10398133, 11355940, 22846738		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	26319365		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	BEFREE	16822578		★☆☆☆☆ Found in Text Mining only
Laryngeal neoplasm	Laryngeal neoplasm	BEFREE	17641416		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	17641416	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	29151940		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	19289642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyoma	Leiomyoma	Pubtator	27748285	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24705122	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25846811, 28882949	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39369651	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20668229, 28397012, 28882949, 29526696		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	15077168		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14687797, 20400510, 20815019, 25650664, 25728766, 29050265, 29391887, 29475611, 30226588, 30405784, 30566242, 30594553, 30597237		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	22265968	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	20815019, 30566242		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24285539, 31292535	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28813465		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12097271, 16953221, 19176640, 19229701, 20541700, 20956321, 21516316, 23995788, 24448687, 24659339, 24953650, 26833127, 27643638, 29304329, 30692209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	16912160, 17711506, 18245474, 18483235, 19165201		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	17384680, 17711506, 20010869, 21150337, 21532627, 24236184, 24285539, 24419424, 25042259, 25465874, 25477232, 26420428, 26625312, 26701889, 26864623, 28205554, 28720067, 28813465, 29089357, 30297358, 30297789, 30626603, 31697874, 32396674, 32945133, 33013881, 33264619, 33268447, 34016959, 35543335, 35621648, 35709927, 36150391, 36220070, 36459496, 39955067	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17676035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	29138862	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17641416	Inhibit	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	25980754		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28454310		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	20818976, 23810581		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10852375, 12114407, 14530500, 15334548, 15714005, 15784178, 17114342, 19483724, 20722467, 22226967, 22353783, 23861764, 24615515, 25178656, 25605744, 26359358, 26458553, 26718214, 26877155, 28011157, 28071670, 28419251, 28581518, 28696138, 28700115, 28931725, 30054559, 30289978, 30689838, 30696074, 31206626, 9537235, 9690990		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22635025, 22916036, 24322983, 25042259, 26413869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	20712528, 24022664, 24676538, 28656285		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	30807303		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	10429655, 12051537		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	29151940		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25650664, 30226588, 30594553		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12649203, 16822578, 16912160, 16953221, 17384680, 17676035, 17711506, 18483235, 18728656, 19176640, 19204826, 19287990, 20010869, 20207041, 20541700, 20616618, 20956321, 21516316, 22088465, 22576699, 23074285, 23276293, 23664447, 23715154, 23825589, 24146957, 24419424, 24448687, 24647869, 24659339, 24828662, 25042259, 25122068, 25465874, 25737507, 26574479, 26625312, 26701726, 27140397, 27431571, 28387316, 28504720, 28598439, 28720067, 28813465, 29138862, 29249655, 29305497, 29540834, 29573522, 29909489, 29963200, 30033530, 30297358, 30297789, 30423141, 30626603, 30692209, 30784288, 30825612, 30995715, 31217475, 31232177, 31285420, 31333780, 31406302, 31697874		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17676035		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10429654, 17761947, 24170201, 25420630, 25510663		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	UNIPROT_DG			★☆☆☆☆ 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	10362809, 10436774, 10436789, 14511408, 15331174, 20452353, 24022664, 24676538, 29601127, 30997723		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	26098869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19347029, 26616116, 28903364, 30215656, 30675291, 9690990		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	21272562, 25329316		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15617552, 15622488, 19615099, 26549522, 26976973, 30054562, 30171989, 30863111		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	9605748		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	21877933, 29089812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22457270, 30549029		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10079245, 10201537, 10208439, 10362809, 10398133, 10429655, 10430928, 10508479, 10644993, 10676634, 10852375, 10874301, 11039077, 11212897, 11297520, 11741830, 12097271, 12649203, 12805220, 12829253, 12865922, 14517248, 14623934, 15016379, 15077168, 15188174, 15334548, 15639728, 15731909, 15987703, 16110486, 16344569, 16407375, 16530014, 16707622, 16756488, 16953221, 17010524, 17384680, 17404884, 17575127, 17599048, 17761947, 18199555, 18600394, 19015641, 19029933, 19204826, 19287990, 19340305, 19584313, 20010869, 20616618, 20956321, 21516316, 21572254, 21940722, 22168747, 22635025, 22987620, 23235348, 23352126, 23415580, 23489586, 23526220, 23584481, 23645358, 23810581, 23928772, 24022664, 24362629, 24604241, 24647869, 24770722, 24879590, 25122068, 25208626, 25244018, 25510663, 25728766, 25980754, 26196184, 26398719, 26426570, 26877140, 27546620, 28119362, 28289710, 28435024, 28550454, 28581518, 28632727, 28754670, 28781649, 28869103, 28967900, 28986664, 29133590, 29141581, 29371475, 29399144, 29773717, 29963200, 29967073, 29973599, 30015925, 30049881, 30068711, 30092773, 30359174, 30617039, 30626603, 30689838, 30692209, 30940876, 30995468, 30997723, 31280139, 31406302, 31497348, 31554794, 31781355, 9605748, 9708796		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	9605748		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19340305, 21926085, 22735790, 24285539, 24792998, 25155037, 27546620, 30222967		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10676634, 11064676, 18794113, 20400510, 24879590, 30913862, 9708796, 9731485, 9809980		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17114342		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23572524, 24615515, 28071670		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	31243107		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	31243107		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	25584893		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10079245, 10201537, 10208439, 10436789, 12552571, 19029933, 19187764, 20193846, 22698401, 25349262, 25584893, 28435024, 28781649, 29371951, 29963200		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	10201537, 20193846, 25349262, 25846811, 28870692	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CLINVAR_DG	10208439		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	12552571		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	UNIPROT_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesothelioma Malignant	Mesothelioma	Pubtator	25514803	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20815019, 22983157, 24877601, 27461402, 28895643		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	20222801		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22698401		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	21940722	Associate	★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	12533684, 24490603		★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10079245		★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25694554, 31664743		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	25694554, 34371271	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24674452		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	16879967		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	16775120		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30223924		★☆☆☆☆ Found in Text Mining only
Neoplasm of small intestine	Intestinal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10079245, 10201537, 10389980, 10398133, 10429655, 10430928, 10441497, 10642527, 10644993, 10852375, 10896921, 11004696, 11215281, 11297520, 11389158, 11853558, 12051537, 12112668, 12114407, 12154064, 12489981, 12533684, 12540903, 12649203, 12800197, 12805220, 12829253, 12861065, 14687797, 15077168, 15186763, 15231735, 15343512, 15480979, 15608654, 15623475, 15639728, 15681023, 15800014, 15987703, 16084949, 16189157, 16407837, 16530014, 16707622, 16733653, 16756488, 16879967, 17114342, 17307971, 17384680, 17404884, 17575127, 17599048, 17676035, 17761947, 17921699, 17928927, 18199555, 18387000, 18483235, 18594528, 18774945, 18794113, 19015641, 19029933, 19176640, 19187764, 19204826, 19340305, 19347029, 19483724, 19513107, 19661141, 19724060, 20010869, 20110331, 20222801, 20310004, 20452353, 20559149, 20616618, 20668229, 20815019, 20818976, 21241696, 21272562, 21317932, 21335955, 21380642, 21383064, 21516316, 21532627, 21572254, 21656073, 21721170, 21816872, 21877933, 21926085, 22088465, 22457270, 22576699, 22735790, 22916036, 22928647, 22987620, 23074285, 23235348, 23322200, 23352126, 23451056, 23463749, 23572524, 23584481, 23664447, 23715154, 23810581, 23825589, 23861764, 23928772, 24022664, 24100703, 24146957, 24170201, 24322983, 24362629, 24387336, 24419424, 24448687, 24647869, 24659339, 24676538, 24792998, 24793789, 24824502, 24828662, 24879590, 25011082, 25042259, 25042806, 25175672, 25179843, 25329316, 25349256, 25420630, 25695224, 25728766, 25737507, 25751324, 25753527, 25769882, 25798842, 25894929, 25936644, 26056085, 26068970, 26119936, 26178787, 26363011, 26398719, 26413869, 26426570, 26458553, 26477306, 26517522, 26549522, 26574479, 26833127, 26877140, 26877155, 26917230, 26934201, 26976973, 27140397, 27160967, 27299180, 27498867, 27687306, 27748285, 27799657, 27821489, 27894106, 27910069, 27923066, 28034771, 28045069, 28099846, 28185117, 28289710, 28346429, 28376202, 28397012, 28435024, 28504720, 28538732, 28560405, 28581518, 28632727, 28649994, 28656285, 28700115, 28754670, 28779098, 28827412, 28900777, 29022902, 29032027, 29084199, 29106388, 29138862, 29191602, 29202476, 29223537, 29370903, 29371951, 29403037, 29525853, 29540834, 29563804, 29601127, 29764856, 29777910, 29895829, 29907081, 29909489, 29914450, 29915721, 29963200, 29967064, 29991651, 30015925, 30033530, 30049881, 30081580, 30149143, 30171989, 30185829, 30222967, 30226588, 30234500, 30274374, 30296566, 30332632, 30483811, 30594553, 30617039, 30675291, 30689838, 30692209, 30696074, 30741368, 30825612, 30830877, 30853530, 30863111, 30885341, 30913862, 30935996, 30995468, 30995715, 31091421, 31154393, 31240473, 31243107, 31285420, 31288625, 31322182, 31333780, 31350327, 31350328, 31383697, 31406302, 31433577, 31513784, 31634668, 31636950, 31678831, 31697874, 31712642, 31744879, 31781355, 31798532, 31818851, 9605748, 9683800, 9731485, 9850045, 9887330		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10408777, 10623683, 11389158, 12112668, 12372054, 12552571, 12865922, 15121768, 15188174, 15608654, 15863673, 16110486, 16287113, 16407375, 16582077, 16707622, 17026623, 17404884, 17924967, 18687677, 19892943, 19908348, 19952941, 21118512, 23056405, 23399955, 23415580, 23672593, 23718779, 24604241, 24652667, 26225618, 26607058, 9428765, 9760200, 9809980, 9850045, 9887330, 9908348		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	12829253, 29720104		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	28326956		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24269733, 25751324		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	29228674, 29563804		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	29228674, 30851333		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29702089		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16397245, 18199555, 18594528, 19176640, 19661141, 19724060, 20193846, 21191700, 21380642, 21516316, 21532627, 22088465, 22988252, 23235348, 23352126, 23664447, 23928772, 24146957, 25011082, 25175672, 25224251, 25737507, 25769882, 25894929, 25936644, 25977220, 26027660, 26119936, 26506235, 26574479, 26599269, 26701726, 26833127, 27140397, 27643638, 27821489, 28033353, 28034771, 28045069, 28099846, 28119362, 28538732, 28652249, 28938614, 28967900, 29066508, 29191602, 29454048, 29773717, 30068711, 30149143, 30423141, 30514331, 30553476, 30585697, 30626603, 30710424, 30825612, 31200821, 31280139, 31350328, 31355336, 31389598, 31513784, 31634668, 31751303, 31781355		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	20815019		★☆☆☆☆ Found in Text Mining only
Nose Neoplasms	Nose Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22635025	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26817629, 27461402, 29032027, 29636366, 29763913, 29875667, 30296566		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	37495171	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17465200, 28632727		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28632727	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29496690	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10389980, 15343512, 17761947, 24170201, 25420630, 25510663		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10201537, 10389980, 10429654, 26068970, 31464709, 33560870, 35017636	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24022664, 29257268	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10362809, 10436789, 14511408, 15331174, 20452353, 24676538, 29601127, 30997723		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	15331174		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	20452353, 26015068		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	14511408		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CLINVAR_DG	21189378		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	26098869		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	10079245, 10362809, 11733352, 14511408, 20193846, 25479140, 26098869, 27615706, 30538291, 30997723, 32354656	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	BEFREE	31178326		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	17761947		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31234232	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31234232, 33552685	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Inflammatory Disease	Pelvic inflammatory disease	Pubtator	33534223	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29032027		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29032027		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	10079245, 10090485, 10102516, 10201537, 10208439, 10217080, 10353780, 10362809, 10389980, 10398133, 10408777, 10429654, 10429655, 10430928, 10436774, 10436789, 10441497, 10508479, 10517250, 10623683, 10642527, 10644993, 10676634, 10780518, 10852375, 10874301, 11004696, 11039077, 11103790, 11212897, 11215281, 11352305, 11355940, 11389158, 11407658, 11430832, 11435690, 11445556, 11561603, 11668633, 11733352, 11741830, 12051537, 12097271, 12114407, 12218179, 12438709, 12533684, 12540903, 12552571, 12649203, 12673116, 12861065, 12865922, 12877386, 14518069, 14623934, 14668798, 14970844, 15031625, 15077168, 15121768, 15188174, 15200509, 15231735, 15261137, 15287029, 15331174, 15334548, 15343512, 15480979, 15608654, 15617552, 15622488, 15623475, 15714005, 15731909, 15756273, 15774015, 15800014, 15987703, 16110486, 16189157, 16287113, 16344569, 16407375, 16530014, 16582077, 16616343, 16648371, 16707622, 16709486, 16733653, 16775120, 16822578, 16882735, 17010210, 17010524, 17026623, 17114342, 17319781, 17384680, 17404884, 17575127, 17599048, 17637250, 17711506, 17761947, 17921699, 17924967, 18311138, 18495044, 18600394, 18774945, 19204826, 19330929, 19507030, 19615099, 19727776, 19908348, 20020146, 20110331, 20393878, 20428811, 20497868, 20616618, 20623358, 20722467, 21118512, 21191700, 21272562, 21335955, 21341271, 21357941, 21411391, 21656073, 21813469, 21816872, 21829227, 21926085, 21940722, 22118009, 22160729, 22168747, 22698401, 22775437, 22846738, 22916036, 22928647, 23337932, 23415580, 23430953, 23463749, 23584481, 23718779, 23892522, 24037887, 24054548, 24154639, 24260271, 24387336, 24448687, 24490603, 24604241, 24652667, 24676538, 25042259, 25329316, 25487640, 25737507, 25751324, 25841653, 26147831, 26225618, 26386697, 26430231, 26607058, 26662608, 26768676, 26877140, 27004004, 27160967, 27467201, 27546620, 27721366, 27821076, 27894106, 28185117, 28231849, 28869103, 28900777, 28986664, 29022902, 29141581, 29202476, 29245219, 29310834, 29371475, 29399144, 29447078, 29540834, 29685139, 29720104, 29907081, 29948449, 30049881, 30092773, 30134342, 30148152, 30222967, 30334930, 30447145, 30528796, 30689838, 30807303, 31072341, 31712642, 9537235, 9605748, 9708796, 9731485, 9760200, 9809980, 9837816, 9850045, 9887330, 9934767		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	CLINVAR_DG	10353780, 10408777, 10441497, 10874301, 11103790, 11389158, 12372054, 12552571, 12865922, 14517248, 14976552, 15121768, 15188174, 15863673, 15987703, 16110486, 16287113, 16407375, 16582077, 16733653, 17026623, 17319781, 17404884, 17924967, 19727776, 19892943, 20393878, 20435009, 20559149, 21118512, 21189378, 21816872, 22543132, 22942091, 23240097, 23399955, 23415580, 23515270, 23718779, 24604241, 24652667, 25226294, 26225618, 26607058, 26979979, 28185117, 28231849, 9399902, 9428765, 9760200, 9809980, 9837816, 9850045, 9887330, 9934767		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	UNIPROT_DG	10408777, 12372054, 15987703, 21411391, 9425897, 9428765, 9760200, 9837816		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	LHGDN	11668633, 11733352, 15231735, 15287029, 15561763, 15617552, 15731909, 15774015, 16287113, 16582077, 16648371, 17010524, 17319781, 17637250, 18600394		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	CLINGEN_DG	12865922, 15261145, 15987703, 16707622, 19681070, 23415580, 23451056, 27705915, 9288765, 9425897		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	ORPHANET_DG	20581245, 9837816		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	GENOMICS_ENGLAND_DG	20581245, 23788249, 9425897		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	CTD_human_DG	26887594		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peutz-Jeghers syndrome	Peutz-Jeghers Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	27615706	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	29483507		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	18000088, 18681789, 26147831, 31433577		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	18000088	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	36139470	Associate	★☆☆☆☆ Found in Text Mining only
Precocious pubarche	Precocious Pubarche	BEFREE	20357370		★☆☆☆☆ Found in Text Mining only
Primary Graft Dysfunction	Primary graft dysfunction	Pubtator	39228019	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19347029, 26616116, 28903364, 30215656, 30675291, 9690990		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25674212, 26616116	Inhibit	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31302203		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	20622004		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25179843, 29956793		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Resistance to Insulin-Like Growth Factor I	IGF-I RESISTANCE	BEFREE	25584893		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	27077911	Associate	★☆☆☆☆ Found in Text Mining only
Sertoli Cell Tumor	Sertoli Cell Tumor	BEFREE	17124587		★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	15343512		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	30518812	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	36044718, 37062002	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	12114407, 15714005, 17114342, 9537235		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16407837, 17641416, 17676035, 18594528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	17676035, 22768234, 23029387, 25115923, 26319365, 26574479, 28284717, 28387316, 30978501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	CTD_human_DG	17676035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16407837, 25234657, 25871473, 33527763	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	17676035		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24953650, 31089135		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16407837, 23280187, 23810581		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28739056, 31608624		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15617552, 15622488, 19615099, 26549522, 26976973, 30054562, 30171989, 30863111, 9683800		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10429655, 19615099, 22723903, 25372287, 26182300, 31308508, 31855952, 31949278, 36484990	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15617552		★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	32931935	Associate	★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	UNIPROT_DG	9605748, 9887330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	BEFREE	10644993, 9605748		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	26295973	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	31798532		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	21877933, 26662608, 29089812		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	21877933, 29089812		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	38165228	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	30143518		★☆☆☆☆ Found in Text Mining only
Trilateral Retinoblastoma	Trilateral Retinoblastoma	BEFREE	23463749		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33314633	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	15231735, 15261137, 15681023, 18067639, 26426570, 28561066		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	LHGDN	15231735		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	18794113	Associate	★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	22916036		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	37838086	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cancer	Endometrial Cancer	BEFREE	26413869, 27910069		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	25738363	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	19340305, 24490603		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17212587, 19340305, 20193846, 22735790, 24390348, 27581326, 32345599	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24792998, 25155037	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	27748285		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Endometrial Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Endometrial Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37647867, 37966164	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	11407658		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	40340749	Associate	★☆☆☆☆ Found in Text Mining only