RUNX2 (RUNX family transcription factor 2)

Gene

• Entrez ID: 860
• Gene name: RUNX family transcription factor 2
• Gene symbol: RUNX2
• Synonyms (NCBI Gene): AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA
• Chromosome: 6
• Chromosome location: 6p21.1
• Summary: This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893988	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs104893989	T>C,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893990	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893991	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893992	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893993	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893994	G>C	Pathogenic	Genic downstream transcript variant, stop lost, terminator codon variant
rs104893995	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs397515537	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs397515538	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs606231174	TGCGGCGGCGGCGGCGGCTGCGGCGGCGGC>-,TGCGGCGGCGGCGGCGGCTGCGGCGGCGGCTGCGGCGGCGGCGGCGGCTGCGGCGGCGGC	Pathogenic	Inframe deletion, genic downstream transcript variant, inframe insertion, coding sequence variant
rs730880313	GCAGCAACAGCAGCA>ACAGCAGCAGCAGCAGCAGCAACAGCAGCCG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs730880314	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs730880315	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs864621970	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057521068	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1554125882	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554384228	G>-	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582095109	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1582105417	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1582169095	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs1582232661	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003597	hsa-miR-135b-5p	qRT-PCR	19795981
MIRT004707	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR, Western blot	20427544
MIRT005888	hsa-miR-335-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21164520
MIRT006037	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT006079	hsa-miR-497-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006080	hsa-miR-195-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006037	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT006079	hsa-miR-497-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006080	hsa-miR-195-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006037	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT006079	hsa-miR-497-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006080	hsa-miR-195-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006895	hsa-miR-204-5p	Luciferase reporter assay, qRT-PCR, Western blot	22871591
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007289	hsa-miR-338-3p	Mass spectrometry	23380982
MIRT007289	hsa-miR-338-3p	Mass spectrometry	23380982
MIRT022898	hsa-miR-124-3p	Microarray	18668037
MIRT025969	hsa-miR-30d-5p	Reporter assay;Western blot	21767385
MIRT028618	hsa-miR-30a-5p	Reporter assay;Western blot	21767385
MIRT046115	hsa-miR-30b-5p	CLASH	23622248
MIRT041692	hsa-miR-484	CLASH	23622248
MIRT037957	hsa-miR-505-5p	CLASH	23622248
MIRT054479	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	23662917
MIRT054479	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	23662917
MIRT054635	hsa-miR-23b-3p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24613919
MIRT054925	hsa-miR-34c-5p	Luciferase reporter assay, qRT-PCR, Western blot	23720736
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25264196
MIRT046115	hsa-miR-30b-5p	Microarray, qRT-PCR, Luciferase reporter assay	23316327
MIRT219171	hsa-miR-30c-5p	Microarray, qRT-PCR, Luciferase reporter assay	23316327
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25264196
MIRT046115	hsa-miR-30b-5p	Microarray, qRT-PCR, Luciferase reporter assay	23316327
MIRT219171	hsa-miR-30c-5p	Microarray, qRT-PCR, Luciferase reporter assay	23316327
MIRT006037	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	25634212
MIRT731506	hsa-miR-205-5p	Luciferase reporter assay	27035764
MIRT731506	hsa-miR-205-5p	Luciferase reporter assay	27035764
MIRT731938	hsa-miR-320a	Luciferase reporter assay, qRT-PCR, Western blot	27965096
MIRT731938	hsa-miR-320a	Luciferase reporter assay, qRT-PCR, Western blot	27965096
MIRT755469	hsa-miR-30a-3p	Luciferase reporter assay, Western blot	26596830
MIRT006895	hsa-miR-204-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	25806689
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Western blot	26708080
MIRT006080	hsa-miR-195-5p	Immunohistochemistry (IHC), qRT-PCR	31956957
MIRT028618	hsa-miR-30a-5p	Immunohistochemistry (IHC), RNA-seq, qRT-PCR	31506771
MIRT733828	hsa-miR-31-3p	qRT-PCR	33828198
MIRT733829	hsa-miR-106a-3p	qRT-PCR	33828198
MIRT054635	hsa-miR-23b-3p	Western blotting, qRT-PCR	33713529
MIRT734820	hsa-miR-204-3p	Western blotting, Microarray	33505617
MIRT734864	hsa-miR-25-3p	Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	33425934
MIRT735608	hsa-miR-20a-3p	Western blotting, Flow cytometry	32097913
MIRT736610	hsa-miR-137	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR, Flow cytometry, ELISA	32025213
MIRT731938	hsa-miR-320a	Luciferase reporter assay, Western blotting, qRT-PCR	33505960
MIRT755469	hsa-miR-30a-3p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Immunoprecipitaion (IP), In situ hybridization	35093061
MIRT219171	hsa-miR-30c-5p	Luciferase reporter assay, Western blotting, qRT-PCR	37125614
MIRT006895	hsa-miR-204-5p	Luciferase reporter assay, Western blotting	37453970
MIRT755572	hsa-miR-129-1-3p	Western blotting, Immunofluorescence	35950473
MIRT755687	hsa-miR-26a-5p	Western blotting, qRT-PCR, Flow cytometry	35246197
MIRT007289	hsa-miR-338-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunofluorescence, Flow cytometry, ELISA	36572886
MIRT756355	hsa-let-7b-5p	Luciferase reporter assay, Western blotting, qRT-PCR	36611957
MIRT1322912	hsa-miR-1184	CLIP-seq
MIRT1322913	hsa-miR-124	CLIP-seq
MIRT1322914	hsa-miR-1244	CLIP-seq
MIRT1322915	hsa-miR-1253	CLIP-seq
MIRT1322916	hsa-miR-1257	CLIP-seq
MIRT1322917	hsa-miR-1270	CLIP-seq
MIRT1322918	hsa-miR-1273e	CLIP-seq
MIRT1322919	hsa-miR-1273f	CLIP-seq
MIRT1322920	hsa-miR-1276	CLIP-seq
MIRT1322921	hsa-miR-1278	CLIP-seq
MIRT1322922	hsa-miR-1303	CLIP-seq
MIRT1322923	hsa-miR-1305	CLIP-seq
MIRT1322924	hsa-miR-1915	CLIP-seq
MIRT1322925	hsa-miR-199a-3p	CLIP-seq
MIRT1322926	hsa-miR-199b-3p	CLIP-seq
MIRT1322927	hsa-miR-203	CLIP-seq
MIRT1322928	hsa-miR-217	CLIP-seq
MIRT1322929	hsa-miR-2909	CLIP-seq
MIRT1322930	hsa-miR-302a	CLIP-seq
MIRT1322931	hsa-miR-302b	CLIP-seq
MIRT1322932	hsa-miR-302c	CLIP-seq
MIRT1322933	hsa-miR-302d	CLIP-seq
MIRT1322934	hsa-miR-302e	CLIP-seq
MIRT1322935	hsa-miR-30a	CLIP-seq
MIRT1322936	hsa-miR-30b	CLIP-seq
MIRT1322937	hsa-miR-30c	CLIP-seq
MIRT1322938	hsa-miR-30d	CLIP-seq
MIRT1322939	hsa-miR-30e	CLIP-seq
MIRT1322940	hsa-miR-31	CLIP-seq
MIRT1322941	hsa-miR-3128	CLIP-seq
MIRT1322942	hsa-miR-3129-5p	CLIP-seq
MIRT1322943	hsa-miR-3138	CLIP-seq
MIRT1322944	hsa-miR-3143	CLIP-seq
MIRT1322945	hsa-miR-3154	CLIP-seq
MIRT1322946	hsa-miR-3162-5p	CLIP-seq
MIRT1322947	hsa-miR-3167	CLIP-seq
MIRT1322948	hsa-miR-3170	CLIP-seq
MIRT1322949	hsa-miR-3174	CLIP-seq
MIRT1322950	hsa-miR-3185	CLIP-seq
MIRT1322951	hsa-miR-331-3p	CLIP-seq
MIRT1322952	hsa-miR-3692	CLIP-seq
MIRT1322953	hsa-miR-3714	CLIP-seq
MIRT1322954	hsa-miR-372	CLIP-seq
MIRT1322955	hsa-miR-373	CLIP-seq
MIRT1322956	hsa-miR-3910	CLIP-seq
MIRT1322957	hsa-miR-3911	CLIP-seq
MIRT1322958	hsa-miR-3919	CLIP-seq
MIRT1322959	hsa-miR-3925-5p	CLIP-seq
MIRT1322960	hsa-miR-3940-5p	CLIP-seq
MIRT1322961	hsa-miR-3973	CLIP-seq
MIRT1322962	hsa-miR-421	CLIP-seq
MIRT1322963	hsa-miR-4311	CLIP-seq
MIRT1322964	hsa-miR-4314	CLIP-seq
MIRT1322965	hsa-miR-4330	CLIP-seq
MIRT1322966	hsa-miR-4418	CLIP-seq
MIRT1322967	hsa-miR-4446-5p	CLIP-seq
MIRT1322968	hsa-miR-4452	CLIP-seq
MIRT1322969	hsa-miR-4507	CLIP-seq
MIRT1322970	hsa-miR-4514	CLIP-seq
MIRT1322971	hsa-miR-451b	CLIP-seq
MIRT1322972	hsa-miR-4635	CLIP-seq
MIRT1322973	hsa-miR-4645-5p	CLIP-seq
MIRT1322974	hsa-miR-4668-3p	CLIP-seq
MIRT1322975	hsa-miR-4673	CLIP-seq
MIRT1322976	hsa-miR-4683	CLIP-seq
MIRT1322977	hsa-miR-4691-3p	CLIP-seq
MIRT1322978	hsa-miR-4692	CLIP-seq
MIRT1322979	hsa-miR-4719	CLIP-seq
MIRT1322980	hsa-miR-4720-5p	CLIP-seq
MIRT1322981	hsa-miR-4726-3p	CLIP-seq
MIRT1322982	hsa-miR-4763-5p	CLIP-seq
MIRT1322983	hsa-miR-4765	CLIP-seq
MIRT1322984	hsa-miR-4766-3p	CLIP-seq
MIRT1322985	hsa-miR-4777-3p	CLIP-seq
MIRT1322986	hsa-miR-4796-3p	CLIP-seq
MIRT1322987	hsa-miR-4799-3p	CLIP-seq
MIRT1322988	hsa-miR-4799-5p	CLIP-seq
MIRT1322989	hsa-miR-4800-5p	CLIP-seq
MIRT1322990	hsa-miR-4802-3p	CLIP-seq
MIRT1322991	hsa-miR-488	CLIP-seq
MIRT1322992	hsa-miR-506	CLIP-seq
MIRT1322993	hsa-miR-509-3-5p	CLIP-seq
MIRT1322994	hsa-miR-509-5p	CLIP-seq
MIRT1322995	hsa-miR-520a-3p	CLIP-seq
MIRT1322996	hsa-miR-520b	CLIP-seq
MIRT1322997	hsa-miR-520c-3p	CLIP-seq
MIRT1322998	hsa-miR-520d-3p	CLIP-seq
MIRT1322999	hsa-miR-520e	CLIP-seq
MIRT1323000	hsa-miR-520f	CLIP-seq
MIRT1323001	hsa-miR-520g	CLIP-seq
MIRT1323002	hsa-miR-520h	CLIP-seq
MIRT1323003	hsa-miR-543	CLIP-seq
MIRT1323004	hsa-miR-548c-3p	CLIP-seq
MIRT1323005	hsa-miR-548k	CLIP-seq
MIRT1323006	hsa-miR-548t	CLIP-seq
MIRT1323007	hsa-miR-561	CLIP-seq
MIRT1323008	hsa-miR-583	CLIP-seq
MIRT1323009	hsa-miR-591	CLIP-seq
MIRT1323010	hsa-miR-607	CLIP-seq
MIRT1323011	hsa-miR-620	CLIP-seq
MIRT1323012	hsa-miR-636	CLIP-seq
MIRT1323013	hsa-miR-659	CLIP-seq
MIRT1323014	hsa-miR-760	CLIP-seq
MIRT1323015	hsa-miR-767-3p	CLIP-seq
MIRT1323016	hsa-miR-802	CLIP-seq
MIRT1323017	hsa-miR-876-5p	CLIP-seq
MIRT1323018	hsa-miR-940	CLIP-seq
MIRT1323019	hsa-miR-942	CLIP-seq
MIRT2095839	hsa-miR-1237	CLIP-seq
MIRT2095840	hsa-miR-1251	CLIP-seq
MIRT1322917	hsa-miR-1270	CLIP-seq
MIRT1322919	hsa-miR-1273f	CLIP-seq
MIRT1322927	hsa-miR-203	CLIP-seq
MIRT2095841	hsa-miR-3137	CLIP-seq
MIRT2095842	hsa-miR-3148	CLIP-seq
MIRT2095843	hsa-miR-329	CLIP-seq
MIRT2095844	hsa-miR-362-3p	CLIP-seq
MIRT2095845	hsa-miR-3686	CLIP-seq
MIRT2095846	hsa-miR-3935	CLIP-seq
MIRT2095847	hsa-miR-3941	CLIP-seq
MIRT2095848	hsa-miR-432	CLIP-seq
MIRT1322968	hsa-miR-4452	CLIP-seq
MIRT2095849	hsa-miR-4531	CLIP-seq
MIRT2095850	hsa-miR-4652-3p	CLIP-seq
MIRT2095851	hsa-miR-4670-3p	CLIP-seq
MIRT1322976	hsa-miR-4683	CLIP-seq
MIRT2095852	hsa-miR-4703-3p	CLIP-seq
MIRT2095853	hsa-miR-4704-5p	CLIP-seq
MIRT2095854	hsa-miR-4760-3p	CLIP-seq
MIRT2095855	hsa-miR-485-3p	CLIP-seq
MIRT2095856	hsa-miR-520d-5p	CLIP-seq
MIRT2095857	hsa-miR-524-5p	CLIP-seq
MIRT2095858	hsa-miR-578	CLIP-seq
MIRT2095859	hsa-miR-603	CLIP-seq
MIRT1323011	hsa-miR-620	CLIP-seq
MIRT1322924	hsa-miR-1915	CLIP-seq
MIRT1322944	hsa-miR-3143	CLIP-seq
MIRT1322970	hsa-miR-4514	CLIP-seq
MIRT1322973	hsa-miR-4645-5p	CLIP-seq
MIRT1322975	hsa-miR-4673	CLIP-seq
MIRT1322978	hsa-miR-4692	CLIP-seq
MIRT1322981	hsa-miR-4726-3p	CLIP-seq
MIRT1323003	hsa-miR-543	CLIP-seq
MIRT1323018	hsa-miR-940	CLIP-seq
MIRT2393959	hsa-miR-1179	CLIP-seq
MIRT2095839	hsa-miR-1237	CLIP-seq
MIRT2393960	hsa-miR-216b	CLIP-seq
MIRT2393961	hsa-miR-4279	CLIP-seq
MIRT2393962	hsa-miR-4287	CLIP-seq
MIRT2393963	hsa-miR-4685-3p	CLIP-seq
MIRT2393964	hsa-miR-4762-5p	CLIP-seq
MIRT2616185	hsa-miR-1238	CLIP-seq
MIRT1322913	hsa-miR-124	CLIP-seq
MIRT2095840	hsa-miR-1251	CLIP-seq
MIRT2616186	hsa-miR-1285	CLIP-seq
MIRT2616187	hsa-miR-1291	CLIP-seq
MIRT2616188	hsa-miR-136	CLIP-seq
MIRT2616189	hsa-miR-204	CLIP-seq
MIRT2616190	hsa-miR-205	CLIP-seq
MIRT2616191	hsa-miR-211	CLIP-seq
MIRT2616192	hsa-miR-2114	CLIP-seq
MIRT2616193	hsa-miR-218	CLIP-seq
MIRT2616194	hsa-miR-3064-3p	CLIP-seq
MIRT1322940	hsa-miR-31	CLIP-seq
MIRT2616195	hsa-miR-3124-3p	CLIP-seq
MIRT1322941	hsa-miR-3128	CLIP-seq
MIRT2095842	hsa-miR-3148	CLIP-seq
MIRT2616196	hsa-miR-3157-3p	CLIP-seq
MIRT1322948	hsa-miR-3170	CLIP-seq
MIRT2616197	hsa-miR-3187-5p	CLIP-seq
MIRT2616198	hsa-miR-3189-3p	CLIP-seq
MIRT2616199	hsa-miR-325	CLIP-seq
MIRT2616200	hsa-miR-328	CLIP-seq
MIRT2095843	hsa-miR-329	CLIP-seq
MIRT1322951	hsa-miR-331-3p	CLIP-seq
MIRT2616201	hsa-miR-338-5p	CLIP-seq
MIRT2095844	hsa-miR-362-3p	CLIP-seq
MIRT2616202	hsa-miR-3669	CLIP-seq
MIRT2616203	hsa-miR-3688-3p	CLIP-seq
MIRT1322953	hsa-miR-3714	CLIP-seq
MIRT2616204	hsa-miR-378g	CLIP-seq
MIRT2616205	hsa-miR-3908	CLIP-seq
MIRT1322956	hsa-miR-3910	CLIP-seq
MIRT2616206	hsa-miR-3923	CLIP-seq
MIRT2095847	hsa-miR-3941	CLIP-seq
MIRT2616207	hsa-miR-3942-5p	CLIP-seq
MIRT2616208	hsa-miR-3978	CLIP-seq
MIRT2616209	hsa-miR-411	CLIP-seq
MIRT2616210	hsa-miR-4290	CLIP-seq
MIRT1322964	hsa-miR-4314	CLIP-seq
MIRT2616211	hsa-miR-4422	CLIP-seq
MIRT2616212	hsa-miR-4486	CLIP-seq
MIRT2616213	hsa-miR-4517	CLIP-seq
MIRT2616214	hsa-miR-4520a-3p	CLIP-seq
MIRT2616215	hsa-miR-455-5p	CLIP-seq
MIRT2616216	hsa-miR-4640-5p	CLIP-seq
MIRT2616217	hsa-miR-4667-3p	CLIP-seq
MIRT2616218	hsa-miR-4694-3p	CLIP-seq
MIRT2616219	hsa-miR-4703-5p	CLIP-seq
MIRT2095853	hsa-miR-4704-5p	CLIP-seq
MIRT1322979	hsa-miR-4719	CLIP-seq
MIRT1322980	hsa-miR-4720-5p	CLIP-seq
MIRT2616220	hsa-miR-4726-5p	CLIP-seq
MIRT2095854	hsa-miR-4760-3p	CLIP-seq
MIRT1322984	hsa-miR-4766-3p	CLIP-seq
MIRT2616221	hsa-miR-4789-3p	CLIP-seq
MIRT2616222	hsa-miR-4790-3p	CLIP-seq
MIRT1322987	hsa-miR-4799-3p	CLIP-seq
MIRT2095855	hsa-miR-485-3p	CLIP-seq
MIRT1322991	hsa-miR-488	CLIP-seq
MIRT2616223	hsa-miR-494	CLIP-seq
MIRT2616224	hsa-miR-495	CLIP-seq
MIRT2616225	hsa-miR-499-3p	CLIP-seq
MIRT2616226	hsa-miR-499a-3p	CLIP-seq
MIRT1322992	hsa-miR-506	CLIP-seq
MIRT2616227	hsa-miR-511	CLIP-seq
MIRT2095856	hsa-miR-520d-5p	CLIP-seq
MIRT2616228	hsa-miR-522	CLIP-seq
MIRT2095857	hsa-miR-524-5p	CLIP-seq
MIRT2616229	hsa-miR-590-3p	CLIP-seq
MIRT2095859	hsa-miR-603	CLIP-seq
MIRT2616230	hsa-miR-612	CLIP-seq
MIRT2616231	hsa-miR-635	CLIP-seq
MIRT1323012	hsa-miR-636	CLIP-seq
MIRT1323014	hsa-miR-760	CLIP-seq
MIRT1323015	hsa-miR-767-3p	CLIP-seq
MIRT2616232	hsa-miR-874	CLIP-seq
MIRT2616233	hsa-miR-889	CLIP-seq
MIRT2616193	hsa-miR-218	CLIP-seq
MIRT2095855	hsa-miR-485-3p	CLIP-seq
MIRT1323012	hsa-miR-636	CLIP-seq
MIRT1322913	hsa-miR-124	CLIP-seq
MIRT1322940	hsa-miR-31	CLIP-seq
MIRT1322941	hsa-miR-3128	CLIP-seq
MIRT2095842	hsa-miR-3148	CLIP-seq
MIRT1322948	hsa-miR-3170	CLIP-seq
MIRT1322951	hsa-miR-331-3p	CLIP-seq
MIRT2616201	hsa-miR-338-5p	CLIP-seq
MIRT2616203	hsa-miR-3688-3p	CLIP-seq
MIRT1322953	hsa-miR-3714	CLIP-seq
MIRT2616205	hsa-miR-3908	CLIP-seq
MIRT1322956	hsa-miR-3910	CLIP-seq
MIRT2616207	hsa-miR-3942-5p	CLIP-seq
MIRT2616208	hsa-miR-3978	CLIP-seq
MIRT2616215	hsa-miR-455-5p	CLIP-seq
MIRT2616217	hsa-miR-4667-3p	CLIP-seq
MIRT2616218	hsa-miR-4694-3p	CLIP-seq
MIRT2616219	hsa-miR-4703-5p	CLIP-seq
MIRT1322980	hsa-miR-4720-5p	CLIP-seq
MIRT1322984	hsa-miR-4766-3p	CLIP-seq
MIRT1322987	hsa-miR-4799-3p	CLIP-seq
MIRT1322991	hsa-miR-488	CLIP-seq
MIRT1322992	hsa-miR-506	CLIP-seq
MIRT2616231	hsa-miR-635	CLIP-seq
MIRT1323014	hsa-miR-760	CLIP-seq
MIRT1323015	hsa-miR-767-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CBFB	Unknown	24648201
ESR1	Unknown	11604227
HDAC4	Repression	19509297
JUN	Unknown	11604227
PITX1	Repression	21425961
TRPS1	Repression	16140555
TWIST1	Repression	21503964;21931630
TWIST1	Unknown	12270142
TWIST2	Repression	21931630
TWIST2	Unknown	12270142

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	ISS
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001503	Process	Ossification	IBA
GO:0001503	Process	Ossification	TAS	9182764, 12217689
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IEP	20128911
GO:0001649	Process	Osteoblast differentiation	IGI	25012146
GO:0001649	Process	Osteoblast differentiation	TAS	12217689
GO:0001958	Process	Endochondral ossification	IEA
GO:0002051	Process	Osteoblast fate commitment	IEA
GO:0002062	Process	Chondrocyte differentiation	IBA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002063	Process	Chondrocyte development	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	9182765
GO:0005515	Function	Protein binding	IPI	11965546, 12145306, 16299379, 17251981, 17377532, 20160071, 22065775, 24113655, 25331851
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	28505335, 28738062
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030097	Process	Hemopoiesis	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030217	Process	T cell differentiation	IEA
GO:0030278	Process	Regulation of ossification	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	ISS
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0036076	Process	Ligamentous ossification	IEA
GO:0040036	Process	Regulation of fibroblast growth factor receptor signaling pathway	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0043425	Function	BHLH transcription factor binding	IEA
GO:0045595	Process	Regulation of cell differentiation	IBA
GO:0045667	Process	Regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	28703881
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	11965546
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11965546
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	28505335, 28703881, 28738062
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048469	Process	Cell maturation	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060395	Process	SMAD protein signal transduction	IGI	25012146
GO:0072089	Process	Stem cell proliferation	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:1904383	Process	Response to sodium phosphate	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA

Other IDs

• MIM: 600211
• HGNC: 10472
• e!Ensembl: ENSG00000124813

Protein

• UniProt ID: Q13950
• Protein name: Runt-related transcription factor 2 (Acute myeloid leukemia 3 protein) (Core-binding factor subunit alpha-1) (CBF-alpha-1) (Oncogene AML-3) (Osteoblast-specific transcription factor 2) (OSF-2) (Polyomavirus enhancer-binding protein 2 alpha A subunit) (PEA
• Protein function: Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28703881, PubMed:28738062). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF
• PDB: 6VG8, 6VGD, 6VGE, 6VGG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00853	Runt	102 → 231	Runt domain	Domain
  PF08504	RunxI	430 → 521	Runx inhibition domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in osteoblasts.
• Sequence:

  MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQ
  QQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPN
  FLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVA
  RFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPS
  LFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYD
  QSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKS
  QAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT
  YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGS
  TLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY

• Sequence length: 521

Pathways

KEGG:

Parathyroid hormone synthesis, secretion and action
Transcriptional misregulation in cancer

Reactome:

Transcriptional regulation by RUNX2
RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
Regulation of RUNX2 expression and activity
RUNX2 regulates osteoblast differentiation
RUNX2 regulates bone development
RUNX2 regulates genes involved in cell migration
RUNX2 regulates genes involved in differentiation of myeloid cells

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
Cleidocranial dysostosis	Pathogenic; Likely pathogenic	rs2150368246, rs2150368229, rs2150452063, rs758120505, rs2150407600, rs2150368254, rs2150371825, rs2150362655, rs2150421218, rs2548589063, rs864621970, rs2481024368, rs730880313, rs104893988, rs104893989, rs104893990, rs1582232661, rs730880314, rs104893991, rs104893992, rs104893993, rs104893994, rs104893995, rs730880315, rs2548581758, rs2548582134, rs2548589285, rs2150421181, rs2548650498, rs1057521068, rs1582169095, rs397515537, rs397515538, rs1582095109, rs1582105417, rs1786864520, rs1798243790, rs1798551566, rs1203066173, rs1798733144, rs1802414251, rs1802421481, rs774631263, rs1802417423, rs1798262516, rs1798735440	RCV002499799 RCV001530973 RCV001823782 RCV001823783 RCV001823784 RCV006257350 RCV002250301 RCV002254434 RCV002272661 RCV002294589 RCV000206373 RCV003153082 RCV000009878 RCV000009879 RCV000009881 RCV000009882 RCV002293412 RCV001823712 RCV000009885 RCV000009886 RCV000009887 RCV000009889 RCV000009890 RCV000009891 RCV003314534 RCV003315217 RCV003326194 RCV004698886 RCV004560471 RCV001262450 RCV000856801 RCV000055836 RCV000055837 RCV000987709 RCV001029809 RCV001268938 RCV001268933 RCV001268937 RCV001268934 RCV001268939 RCV001268935 RCV001268936 RCV001193939 RCV001253569 RCV001257150 RCV001293453 RCV001293454	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cleidocranial dysplasia 1, forme fruste, dental anomalies only	Pathogenic	rs104893993	RCV002293413	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleidocranial dysplasia 1, forme fruste, with brachydactyly	Pathogenic	rs606231174	RCV002293411	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	Pathogenic; Likely pathogenic	rs2150368246, rs1311296877, rs2150368254, rs104893991, rs1057521068, rs397515538	RCV002499799 RCV002286433 RCV006257350 RCV002482851 RCV005411429 RCV005225312	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome	Likely pathogenic	rs1800492946	RCV001328261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RUNX2-related disorder	Pathogenic; Likely pathogenic	rs2150362649, rs104893991, rs2481024491, rs2548635916, rs2548650342	RCV003403667 RCV003934819 RCV003427935 RCV003391601 RCV004753703	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, PSORIATIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEIDOCRANIAL DYSPLASIA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEIDOCRANIAL DYSPLASIA 1	—	GWAS catalog, HPO GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METAPHYSEAL DYSPLASIA, MAXILLARY HYPOPLASIA, BRACHYDACTYLY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOARTHRITIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS OF HIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE SUPRANUCLEAR PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acampomelic Campomelic Dysplasia	Acampomelic Campomelic Dysplasia	BEFREE	21890680		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17312329		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	23404246		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	1317749, 20368581, 28569789, 8309256		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19915614, 27634876, 28631378, 31109257		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	31059049		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24677340		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	27706911		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17312329		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36764297	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30819183		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	25738174	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	26330244, 31209247		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27783321, 28728847, 30415492, 31682238		★☆☆☆☆ Found in Text Mining only
Ankylosis	Ankylosis	Pubtator	29498969	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	20683987	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	17876328		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	39358545	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27358138		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	24703637	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	16601454, 29016735, 31393559		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	24703637, 35109802, 38365109	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	23968872	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	23968872		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	31393559		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	23452891		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	23452891	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30746746		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	20008919		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30820026	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	CTD_human_DG	20008919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	27149112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	BEFREE	30111093		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27825108		★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 2	Atelosteogenesis	Pubtator	35674542	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30746746		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	28631378		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28580305, 30535438		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36908813	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30098434		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	11351351, 15933061, 17900349, 22740707, 25808168, 29498969, 32075713	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	16140555, 17051438, 17725488, 18829534, 19515746, 19915614, 20561908, 25053011, 25634212, 25808168, 25862559, 28657691, 31709715, 9233771		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	LHGDN	18829486, 18829534		★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	20339249	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	12162506, 24590987	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	16463420		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	21951664, 22949168, 30813947		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	22766796, 22949168	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	29891876		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10608352, 15273700, 15665096, 16052475, 19632824, 19690135, 20561908, 21029421, 22032690, 22147940, 22151997, 23169547, 23389849, 24036662, 25190326, 25266482, 25472539, 25608841, 25634212, 25636886, 25673059, 25808624, 26060017, 26320173, 26404249, 26804175, 27317874, 28268169, 28345763, 28364216, 28412963, 28981843, 29050333, 30076901, 30127867, 30349372, 31086603, 31705901, 31828433		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15665096, 19632824, 19690135, 20946121, 21029421, 22147940, 22151997, 22158627, 22189971, 24479521, 25266482, 25380580, 25808624, 27253998, 27806311, 28412963, 28981843, 29269484, 31395086, 31624086, 31865591, 32102992, 32198086, 35589867, 36216883, 38219710	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	26597806, 35534547	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	12455237, 20723612, 20845893, 22874762, 23416929, 27353274, 28192277, 31043660, 32066043, 32188274, 32587575, 33545156, 39510246	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	32016954	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22158627, 35534547	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17725488		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	22641097	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	26597806	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27336713, 28264434, 33566427	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30098434		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21885439, 27834355, 30184776, 31109257		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23093845, 24124450, 24613919	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	17876328	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27173324, 36200301, 36328501, 37525479	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33095746	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	20658243		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24124450, 24613919, 31082772		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	20723612, 22796508, 27428952	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	12455237, 19723327, 25424126, 29374435, 31981738	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage Diseases	BEFREE	27526290		★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	16463420, 24634175, 8220422, 9147872		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31807549		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31807549		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	17312329		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	25556446	Associate	★☆☆☆☆ Found in Text Mining only
Chondroma	Chordoma	Pubtator	12455237, 17387386	Associate	★☆☆☆☆ Found in Text Mining only
Chondroma	Chondroma	LHGDN	17387386		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	16549373, 21951664, 26596830, 27522523, 29484408, 30106092		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	17387386		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	17387386, 19509297, 26596830	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28686724, 31519772		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	31331833		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	18357615, 22241686, 31262291, 36901988	Associate	★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	10204840, 10521292, 10545612, 10629103, 10689183, 10962029, 11368305, 11448020, 11459326, 11768584, 11857736, 12081718, 12162506, 12196916, 12416539, 12424591, 12732182, 12815605, 15566413, 15952089, 16140555, 16222673, 16244783, 16270353, 16463420, 16829211, 17022082, 17656144, 17973689, 18166138, 18203189, 18648208, 18777095, 18818114, 19028669, 19515746, 19744171, 19767586, 19830829, 20014132, 20082269, 20225274, 20407796, 20560987, 20648631, 20702542, 20847738, 20872798, 21040462, 21115325, 21131390, 21890680, 21951664, 22023169, 22194205, 22717651, 23220435, 23376464, 23558979, 23659235, 23702614, 24222232, 24497578, 24578613, 24634175, 24797831, 24885110, 24966961, 25209980, 25589510, 25738174, 25755819, 25818585, 25899668, 26220009, 27272193, 27500518, 27509906, 27706911, 28052439, 28056872, 28091408, 28173761, 28505335, 28686577, 28703881, 28738062, 29089101, 29233684, 29357927, 29787635, 29852250, 29875795, 29943367, 29947791, 30178560, 30391578, 30391791, 30445456, 30506733, 30798031, 31013682, 31192880, 31347140, 31548836, 9182764, 9182765, 9207800, 9233771, 9268099, 9682035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial Dysplasia	Cleidocranial Dysplasia	UNIPROT_DG	10521292, 10545612, 10689183, 10980549, 11857736, 12081718, 12196916, 12424590, 16270353, 19744171, 20082269, 20648631, 24984680, 28505335, 28703881, 28738062, 9182765, 9207800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial Dysplasia	Cleidocranial dysplasia	Pubtator	10521292, 12162506, 12196916, 14689542, 18166138, 18203189, 19123713, 19515746, 20014132, 20082269, 20339249, 21274329, 21890680, 23220435, 23289840, 24497578, 24578613, 24634175, 24966961, 25738174, 25755819, 26559068, 27068678, 27177937, 28091408, 28173761, 29498969, 30016033, 30420564, 30468148, 31548836, 31948427, 32075713, 33477036, 34217160, 34638677, 34766588, 34779963, 34946295, 35065050, 35235174, 35674542, 35885911, 36241386, 37500953, 38068903, 39894570	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial Dysplasia	Cleidocranial Dysplasia	GENOMICS_ENGLAND_DG	10545612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial Dysplasia	Cleidocranial Dysplasia	LHGDN	11857736, 12196916, 12732182, 12815605, 16244783, 16270353, 17522365, 17973689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial Dysplasia	Cleidocranial Dysplasia	CTD_human_DG	14688224, 17022082, 20357738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial Dysplasia	Cleidocranial dysplasia	Pubtator	24827498	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial Dysplasia	Cleidocranial Dysplasia	CLINVAR_DG	26380986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial Dysplasia	Cleidocranial Dysplasia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial dysplasia	Cleidocranial Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY	CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly	Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28815354, 29129496		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22396198, 23471840, 25329001, 28806509, 29552759, 29738069, 30105080, 30184776, 31646796		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	21088106		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21088106, 31059049	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12244568, 16600304, 21088106, 22710434, 27543333, 27864346, 28214209, 28884839, 28938522, 29471888, 29637007, 31097689, 31589964		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21088106, 29471888, 29552759, 31097689	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	20560987, 21056083		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	25556446	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	BEFREE	23702614, 28686577		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27173324		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	35708762	Stimulate	★☆☆☆☆ Found in Text Mining only
Craniofacial Dysostosis	Craniofacial dysostosis	Pubtator	35331937	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	20683987, 32360898, 33656806, 35331937	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	11681994, 20683987, 22547067, 23307468, 29392564, 31331833, 31442251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	GENOMICS_ENGLAND_DG	23348268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	29129496, 29577935		★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	18319608, 19997821, 21854818, 22095691, 25424126, 26816250, 26818776, 27428952, 28539595, 28743292, 28798419, 29039525, 29095952, 29356961, 29441992, 29658578, 29728632, 30010910, 30106092, 30324848, 30903650, 30968404, 31189030, 31310910, 31666602, 31704449, 31765607		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	20008919		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	29107070		★☆☆☆☆ Found in Text Mining only
Dental Diseases	Dental Diseases	BEFREE	21115325		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentin dysplasia type 1	Dentin dysplasia	Pubtator	32737282	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20818503, 28130181, 30696833, 31393485		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20818503, 28130181, 29930002, 30696833, 31321775, 31393485		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27353274	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37728820	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22740707, 32596370, 38096208	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27582133, 32777114	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20818503, 29111170		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18688176, 25159845, 29029615, 31401313		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31830266		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	31830266, 36745438	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	15716609	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	21040462		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	31948427	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30961565		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24124450, 24613919, 31082772		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28631378, 30138923		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28631378, 30138923		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29040875		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	22641097		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	33850461	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	37032358	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	15003787, 16024207, 19422937, 25264196, 27862217		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	31471919, 32154660	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24677340, 30203400		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36762036, 37357610	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24677340, 30203400		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18438928, 28595085, 30203400		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30070328, 40702072	Associate	★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28120940		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	34946295	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	29227539, 36908813	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria Benign Familial	Hematuria	Pubtator	31097689	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	39510246	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25609707	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19383984		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	19383984, 25283348	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30386554		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	14739291		★☆☆☆☆ Found in Text Mining only
Hyperostosis Diffuse Idiopathic Skeletal	Diffuse idiopathic skeletal hyperostosis	Pubtator	37156767	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	30189026		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	25279550, 26123554, 31409892, 36232582, 36594090	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	20683987		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	20014132		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	20014132	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	BEFREE	29891876		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27149112		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28986417		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29357927		★☆☆☆☆ Found in Text Mining only
Interfrontal craniofaciosynostosis	Interfrontal Craniofaciosynostosis	BEFREE	20683987		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36972403	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	27287253, 30387158		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	28512636		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31256934		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30119977		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1317749, 24586197, 27060207, 30651113, 30719500, 31123034		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22825467	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10940651, 19383925, 24144307, 26812881, 27054578, 27724883, 28360147, 28569789, 30719500		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12244568, 17094378, 27336713, 27666365, 28264434, 31614906		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12244568		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23618908, 26282001, 28950255, 33455109	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25053011		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30403914		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23471668, 33896817	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22710434, 31257681		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	19739101		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28120940		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	31650163		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15273700, 15665096, 16052475, 19632824, 19690135, 20561908, 21029421, 22032690, 22147940, 22151997, 23169547, 23389849, 24036662, 24479521, 25190326, 25266482, 25472539, 25608841, 25634212, 25636886, 25673059, 25808624, 26060017, 26320173, 26404249, 26804175, 27317874, 28268169, 28345763, 28364216, 28412963, 28981843, 29050333, 30076901, 30127867, 30349372, 31086603, 31705901, 31828433		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28631378, 30138923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	14871811		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21885439, 27834355, 31109257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23813439, 24613919		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17876328, 29558908, 29620279, 30655837, 30739523		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12746842, 18453541, 19492418, 19509141, 20580290, 20863401, 21505104, 22187159, 22890388, 23073173, 23364535, 24648349, 25053011, 25867060, 26189652, 27554677, 28125091, 29167276, 29328471, 29356961, 31109257, 31281490, 31505052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27007162, 31584135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22511796, 27253998, 31395086, 31624086		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30098434		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14500702, 16166639, 18318472, 18438928, 19414342, 20561908, 20580290, 20591170, 20863401, 21885439, 22890388, 23169547, 23527718, 23813439, 24265722, 25053011, 25609707, 25808168, 26204939, 26404249, 26516143, 27007162, 27317874, 27666365, 28390192, 28626907, 28850007, 28938538, 28981843, 29167276, 29207663, 29328471, 30105080, 30719500, 31059049, 31109257, 31395086, 31584135, 31589964, 31650163		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31807549		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23471840, 25329001, 28806509, 29552759, 29738069, 30105080, 31646796		★☆☆☆☆ Found in Text Mining only
Malocclusion	Malocclusion	Pubtator	24698832	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12750290, 15231660, 15273700, 15665096		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	31650163		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	19383925		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14667142, 24657655, 28884442, 30463392, 31142788		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24657655, 27102439, 31142788, 32204402	Associate	★☆☆☆☆ Found in Text Mining only
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly	Metaphyseal Dysplasia With Maxillary Hypoplasia, with or without Brachydactyly	BEFREE	23290074, 25311905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly	Metaphyseal dysplasia	Pubtator	23290074, 29891876	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly	Metaphyseal Dysplasia With Maxillary Hypoplasia, with or without Brachydactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY	Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly	BEFREE	23290074, 25311905, 29891876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY	Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly	ORPHANET_DG	23290074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY	Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly	GENOMICS_ENGLAND_DG	23348268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY	Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydactly Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	19915614		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	BEFREE	20683987		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	25862559		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	17876328	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	15933061		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15933061, 31784427	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17927494, 22042697, 25862559, 27559096, 29592898		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27559096	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12555218, 24443267, 31611955		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24443267	Inhibit	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	1889818		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14871811, 15273700, 15583032, 16325352, 17094378, 17876328, 19041192, 19690135, 19915614, 20465837, 20530675, 21503964, 21913213, 21951664, 22147940, 22511796, 22710434, 22966907, 23073173, 24124450, 25053011, 25186968, 25266482, 25359431, 25634212, 25808624, 25862559, 25867060, 26189652, 27253998, 27666365, 27841696, 28345763, 28631378, 29042587, 29167276, 30138923, 30153003, 31097689, 31291139, 31614906		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27112178		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30746746		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11236925, 12409262, 23471668, 30599905, 30780105, 31109257		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	27644766		★☆☆☆☆ Found in Text Mining only
Odontome	Odontome	CTD_human_DG	14688224		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	28469774		★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	16547399, 18319563		★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	BEFREE	22450860		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20723612, 20955562, 27072078, 27428952, 28798419, 29095952, 29658578, 29728632, 30010910, 30903650, 33055079, 34078001, 34165827, 34769441, 36915153, 37652257, 37918800	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	23748413, 26123554, 33629290	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	27999816	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	CTD_human_DG	30374069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069, 30664745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	30899364, 31049977		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	20008919		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	20014132, 27509906, 29943367		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	10856244, 29069035, 31486477, 32141579, 33410269	Associate	★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	15665096, 22187159, 24373848	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	25053011, 25605327, 26542806, 27061521, 28320453, 28500134, 29234953, 29858571, 30069475, 30189026, 31013682, 31175224, 31306296, 31614022, 31703756		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	10521292, 12162506, 17000892, 21845073, 22189971, 23028809, 23638215, 26719974, 26930606, 31599402, 31858576, 32154660, 33993186, 34899595, 38167042	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	12088880, 12162506, 17000892, 17878995, 19017541, 21854818, 26719974, 27061521, 28123639, 29234953, 29357927, 30257098, 30324718, 30506733, 30779060, 31096652, 31304902, 31399862, 31485621, 31555350, 31599401, 31599402, 31614022, 31696458		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	12088880, 12162506		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	19017541, 19877060, 30324718, 30338786, 30779060, 31599401, 32016954	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	30257098, 31478244		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10608352, 11604227, 14739291, 15225881, 15310757, 15583032, 15781466, 18567798, 18931939, 19286668, 19739101, 19746444, 20465837, 20530675, 21029421, 21837709, 21951664, 22158627, 22949168, 23527718, 23720736, 24293382, 24330824, 25307878, 26528706, 27035764, 27277970, 28300755, 28370561, 28681940, 29042587, 29068478, 29558908, 29923217, 30072099, 30489194, 30637720, 31291139, 31555384, 31595984, 31669178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	12393937, 18223689, 20465837, 21029421, 22158627, 22949168, 23144859, 23618908, 24293382, 24330824, 25418192, 30943004, 31669178, 35340229, 39190380, 39768988, 40332124	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	LHGDN	15583032, 18223689, 18321663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	18931939, 24983940	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	CTD_human_DG	24646477, 25307878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosclerosis	Osteosclerosis	BEFREE	31704449		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	27009636		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	24124450	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	25359431		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24613919		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24613919	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	16166639		★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	30609267		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17876328, 29558908, 29620279, 30655837, 30739523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	17876328		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17876328, 27713122, 28671946, 34606473, 38297362	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	18381576, 22511796, 22821892, 30319270, 31043660		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	30971697		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	27645561, 30787991, 31103800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	27645561	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peyronie Disease	Peyronie Disease	BEFREE	15302515		★☆☆☆☆ Found in Text Mining only
Pfeiffer Syndrome	Pfeiffer Syndrome	BEFREE	10942429		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	19020999	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	24279306, 27965096		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	24279306	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	22710434		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	28249301		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	25359431		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	GWASCAT_DG	30089514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	12746842, 18453541, 19492418, 19509141, 20580290, 20863401, 21505104, 22187159, 22890388, 23073173, 23364535, 24648349, 25053011, 25867060, 26189652, 27554677, 28125091, 29167276, 29328471, 31109257, 31281490, 31505052		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11351351, 20082326, 20863401, 21505104, 22187159, 22966907, 25808168, 34257854, 34689576, 36759880	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12746842		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22158627, 25053011, 25609707, 25867060, 26189652, 27634876		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36623397	Stimulate	★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	25867060		★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	30609267		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27149112		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28986417		★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	BEFREE	29891876		★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	14871811		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27173324		★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	BEFREE	30111093		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	30812001		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	9182764		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	30812001		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15583032, 30551533		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	12416539, 22133875		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	20008919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	12416539, 22133875		★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	15829502, 29663378		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35401056	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Diffuse	Scleroderma	Pubtator	24812288	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	10521292, 32448279	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	20073986		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	20683987	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	12972925		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
SINGLETON-MERTEN SYNDROME 2	Singleton Merten Syndrome	BEFREE	29626090		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	20014132, 27509906, 29943367		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	23316327		★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	CTD_human_DG	20008919		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	33410269, 37798786, 39692554	Associate	★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylolysis	Spondylolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33657265	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27760788, 28120940		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27007162, 31584135		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33896817	Associate	★☆☆☆☆ Found in Text Mining only
Stomatognathic System Abnormalities	Stomatognathic System Abnormalities	CTD_human_DG	20357738		★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	35842134, 39251599	Associate	★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	22821892, 31043660	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22511796, 22641097, 27253998, 28390192, 31395086, 31624086		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22511796, 22641097, 22821892, 27253998, 31395086, 31624086		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22641097, 22821892, 24069422, 27253998, 31395086, 31624086, 39271656	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	25738174	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30127867, 31788122		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31865591, 38219710	Associate	★☆☆☆☆ Found in Text Mining only
TROPICAL CALCIFIC PANCREATITIS	TROPICAL CALCIFIC PANCREATITIS	BEFREE	29269312		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31814910		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	22241686		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	12631081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uremia	Uremia	CTD_human_DG	19092814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29048677	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35805994	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	36791912	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	22796540, 26418500	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	23316327, 32722241, 37125614, 37728820	Associate	★☆☆☆☆ Found in Text Mining only