TWIST1 (twist family bHLH transcription factor 1)

Gene

• Entrez ID: 7291
• Gene name: Twist family bHLH transcription factor 1
• Gene symbol: TWIST1
• Synonyms (NCBI Gene): ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, TWIST, bHLHa38
• Chromosome: 7
• Chromosome location: 7p21.1
• Summary: This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of gen

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894054	G>C,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs104894055	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs104894057	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894058	C>A,G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs104894059	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894065	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121909186	->T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121909187	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121909188	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121909189	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121909190	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121909191	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs878852992	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs1085307555	C>G,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554441987	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554441989	->GGGCAGCGTGGGGATGATCTT	Pathogenic	Coding sequence variant, non coding transcript variant, inframe insertion
rs1554441991	->GGCAGCGTGGGGATGATCTTC	Pathogenic	Coding sequence variant, non coding transcript variant, inframe insertion
rs1554441993	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554441995	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554442015	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554442016	T>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554442019	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554442082	CGCGCTGCGCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1563159980	->AGGGCAGCGTGGGGATGATCT	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1563160116	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1563160337	CGTCCCCCGCGCTTGCCGCTCG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1585616860	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1585616948	->GAGGGCAGCGTGGGGATGATC	Likely-pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs1585617015	T>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1585617108	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1585617240	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1585617402	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1585617611	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1585617794	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1585617865	->GTCTGGCT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006731	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	22540680
MIRT053174	hsa-miR-543	Luciferase reporter assay, Western blot	24699721
MIRT053509	hsa-miR-300	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23105110
MIRT053510	hsa-miR-539-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23105110
MIRT053174	hsa-miR-543	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23105110
MIRT053796	hsa-miR-580-3p	Luciferase reporter assay, Western blot	22266852
MIRT054405	hsa-miR-106b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24002805
MIRT053509	hsa-miR-300	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24885626
MIRT054879	hsa-miR-33a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24468065
MIRT438509	hsa-miR-181a-5p	Luciferase reporter assay	24148247
MIRT438509	hsa-miR-181a-5p	Luciferase reporter assay	24148247
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	19536157
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	19536157
MIRT612188	hsa-miR-8485	HITS-CLIP	19536157
MIRT612187	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT612186	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	19536157
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614690	hsa-miR-603	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT614689	hsa-miR-3941	HITS-CLIP	23824327
MIRT614688	hsa-miR-4672	HITS-CLIP	23824327
MIRT614687	hsa-miR-466	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614690	hsa-miR-603	HITS-CLIP	23824327
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT614689	hsa-miR-3941	HITS-CLIP	23824327
MIRT614688	hsa-miR-4672	HITS-CLIP	23824327
MIRT614687	hsa-miR-466	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614690	hsa-miR-603	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT614689	hsa-miR-3941	HITS-CLIP	23824327
MIRT614688	hsa-miR-4672	HITS-CLIP	23824327
MIRT614687	hsa-miR-466	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT464962	hsa-miR-361-5p	PAR-CLIP	23592263
MIRT464961	hsa-miR-2392	PAR-CLIP	23592263
MIRT464960	hsa-miR-2115-3p	PAR-CLIP	23592263
MIRT464959	hsa-miR-4257	PAR-CLIP	23592263
MIRT464958	hsa-miR-1185-5p	PAR-CLIP	23592263
MIRT464957	hsa-miR-3679-5p	PAR-CLIP	23592263
MIRT464956	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT464955	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT464954	hsa-miR-6743-3p	PAR-CLIP	23592263
MIRT464953	hsa-miR-1193	PAR-CLIP	23592263
MIRT464952	hsa-miR-4316	PAR-CLIP	23592263
MIRT464951	hsa-miR-1294	PAR-CLIP	23592263
MIRT464950	hsa-miR-3678-3p	PAR-CLIP	23592263
MIRT731547	hsa-miR-151a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27930738
MIRT731547	hsa-miR-151a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27930738
MIRT731569	hsa-miR-32-5p	Luciferase reporter assay	27042117
MIRT731569	hsa-miR-32-5p	Luciferase reporter assay	27042117
MIRT053509	hsa-miR-300	Luciferase reporter assay	27602960
MIRT053509	hsa-miR-300	Luciferase reporter assay	27602960
MIRT054879	hsa-miR-33a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26330060
MIRT054879	hsa-miR-33a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26330060
MIRT733406	hsa-miR-15a-3p	Luciferase reporter assay, qRT-PCR, Western blot	28123352
MIRT733406	hsa-miR-15a-3p	Luciferase reporter assay, qRT-PCR, Western blot	28123352
MIRT464962	hsa-miR-361-5p	Luciferase reporter assay, qRT-PCR, Western blot	28184914
MIRT464962	hsa-miR-361-5p	Luciferase reporter assay, qRT-PCR, Western blot	28184914
MIRT732729	hsa-miR-25-3p	Luciferase reporter assay, qRT-PCR, Western blotting	33070258
MIRT733406	hsa-miR-15a-3p	Western blotting, qRT-PCR	31842825
MIRT736552	hsa-miR-942-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34164767
MIRT737118	hsa-miR-138-5p	Western blotting, qRT-PCR	32388607
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	19536157
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	19536157
MIRT612188	hsa-miR-8485	HITS-CLIP	19536157
MIRT612187	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT612186	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	19536157
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614690	hsa-miR-603	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT614689	hsa-miR-3941	HITS-CLIP	23824327
MIRT614688	hsa-miR-4672	HITS-CLIP	23824327
MIRT614687	hsa-miR-466	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614690	hsa-miR-603	HITS-CLIP	23824327
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT614689	hsa-miR-3941	HITS-CLIP	23824327
MIRT614688	hsa-miR-4672	HITS-CLIP	23824327
MIRT614687	hsa-miR-466	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614690	hsa-miR-603	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT614689	hsa-miR-3941	HITS-CLIP	23824327
MIRT614688	hsa-miR-4672	HITS-CLIP	23824327
MIRT614687	hsa-miR-466	HITS-CLIP	23824327
MIRT612190	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612189	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612188	hsa-miR-8485	HITS-CLIP	23824327
MIRT612187	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612186	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612185	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT612184	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT612183	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT464962	hsa-miR-361-5p	PAR-CLIP	23592263
MIRT464961	hsa-miR-2392	PAR-CLIP	23592263
MIRT464960	hsa-miR-2115-3p	PAR-CLIP	23592263
MIRT464959	hsa-miR-4257	PAR-CLIP	23592263
MIRT464958	hsa-miR-1185-5p	PAR-CLIP	23592263
MIRT464957	hsa-miR-3679-5p	PAR-CLIP	23592263
MIRT464956	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT464955	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT464954	hsa-miR-6743-3p	PAR-CLIP	23592263
MIRT464953	hsa-miR-1193	PAR-CLIP	23592263
MIRT464952	hsa-miR-4316	PAR-CLIP	23592263
MIRT464951	hsa-miR-1294	PAR-CLIP	23592263
MIRT464950	hsa-miR-3678-3p	PAR-CLIP	23592263
MIRT756062	hsa-miR-370-3p	Luciferase reporter assay, Western blotting, qRT-PCR, EMSA	36083239
MIRT736552	hsa-miR-942-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34164767
MIRT1464442	hsa-miR-3192	CLIP-seq
MIRT1464443	hsa-miR-34b	CLIP-seq
MIRT1464444	hsa-miR-4314	CLIP-seq
MIRT1464445	hsa-miR-4646-5p	CLIP-seq
MIRT1464446	hsa-miR-4735-5p	CLIP-seq
MIRT1464447	hsa-miR-576-5p	CLIP-seq
MIRT1464448	hsa-miR-9	CLIP-seq
MIRT2360233	hsa-miR-1185	CLIP-seq
MIRT2360234	hsa-miR-1208	CLIP-seq
MIRT2360235	hsa-miR-1271	CLIP-seq
MIRT1464442	hsa-miR-3192	CLIP-seq
MIRT1464443	hsa-miR-34b	CLIP-seq
MIRT1464444	hsa-miR-4314	CLIP-seq
MIRT1464445	hsa-miR-4646-5p	CLIP-seq
MIRT1464446	hsa-miR-4735-5p	CLIP-seq
MIRT1464447	hsa-miR-576-5p	CLIP-seq
MIRT2360236	hsa-miR-96	CLIP-seq
MIRT2434380	hsa-miR-1972	CLIP-seq
MIRT2434381	hsa-miR-450b-5p	CLIP-seq
MIRT2434382	hsa-miR-507	CLIP-seq
MIRT2434383	hsa-miR-520d-5p	CLIP-seq
MIRT2434384	hsa-miR-524-5p	CLIP-seq
MIRT2434385	hsa-miR-557	CLIP-seq
MIRT2434386	hsa-miR-584	CLIP-seq
MIRT2434387	hsa-miR-640	CLIP-seq
MIRT2442797	hsa-miR-526b	CLIP-seq
MIRT2442798	hsa-miR-564	CLIP-seq
MIRT2442799	hsa-miR-580	CLIP-seq
MIRT2434380	hsa-miR-1972	CLIP-seq
MIRT2653649	hsa-miR-3613-3p	CLIP-seq
MIRT2442797	hsa-miR-526b	CLIP-seq
MIRT2653650	hsa-miR-548ac	CLIP-seq
MIRT2653651	hsa-miR-548ae	CLIP-seq
MIRT2653652	hsa-miR-548aj	CLIP-seq
MIRT2653653	hsa-miR-548am	CLIP-seq
MIRT2653654	hsa-miR-548d-3p	CLIP-seq
MIRT2653655	hsa-miR-548x	CLIP-seq
MIRT2653656	hsa-miR-548z	CLIP-seq
MIRT2442798	hsa-miR-564	CLIP-seq
MIRT2442799	hsa-miR-580	CLIP-seq
MIRT2434387	hsa-miR-640	CLIP-seq
MIRT2653649	hsa-miR-3613-3p	CLIP-seq
MIRT2442797	hsa-miR-526b	CLIP-seq
MIRT2653650	hsa-miR-548ac	CLIP-seq
MIRT2653651	hsa-miR-548ae	CLIP-seq
MIRT2653652	hsa-miR-548aj	CLIP-seq
MIRT2653653	hsa-miR-548am	CLIP-seq
MIRT2653654	hsa-miR-548d-3p	CLIP-seq
MIRT2653655	hsa-miR-548x	CLIP-seq
MIRT2653656	hsa-miR-548z	CLIP-seq
MIRT2442798	hsa-miR-564	CLIP-seq
MIRT2442799	hsa-miR-580	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EZH2	Repression	23836662
FOXQ1	Activation	23723077
HDAC2	Repression	23836662
HIF1A	Activation	23623921
HIF1A	Unknown	21931630
HMGA1	Activation	22276142
PER2	Repression	23836662
POU2F1	Activation	23836662
POU2F1	Repression	23836662
PROX1	Repression	22982861
RELA	Activation	22253230
RUNX2	Activation	22641097
STAT3	Unknown	17909010
STAT3	Activation	23623921
STAT3	Unknown	17909010
SUZ12	Repression	23836662

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	17690110
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
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	IDA	17332325
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	27027434
GO:0001217	Function	DNA-binding transcription repressor activity	IDA	27027434
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001221	Function	Transcription coregulator binding	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	12270142
GO:0001503	Process	Ossification	IEA
GO:0001503	Process	Ossification	TAS	11001584
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	IMP	20804746
GO:0003183	Process	Mitral valve morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	10749989, 11248247, 18504427, 18598946, 19534813, 21983900, 22975381, 24525235, 25402006, 25609649, 25893917, 28514442, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	10749989, 15545268
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007517	Process	Muscle organ development	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	17003487
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	18297062
GO:0010936	Process	Negative regulation of macrophage cytokine production	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	17332325
GO:0030500	Process	Regulation of bone mineralization	IMP	19597909
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IMP	20007935
GO:0032502	Process	Developmental process	IBA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IMP	20007935
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IMP	20007935
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0035359	Process	Negative regulation of peroxisome proliferator activated receptor signaling pathway	IEA
GO:0035359	Process	Negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS
GO:0042473	Process	Outer ear morphogenesis	TAS	11001584
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	TAS	11001584
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0042826	Function	Histone deacetylase binding	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043425	Function	BHLH transcription factor binding	IEA
GO:0043425	Function	BHLH transcription factor binding	IPI	10749989
GO:0043518	Process	Negative regulation of DNA damage response, signal transduction by p53 class mediator	IMP	17690110
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	16888803
GO:0045766	Process	Positive regulation of angiogenesis	NAS	17987801
GO:0045843	Process	Negative regulation of striated muscle tissue development	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	25981568
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17332325
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	12270142
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048642	Process	Negative regulation of skeletal muscle tissue development	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IMP	8988166, 8988167
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	17003487
GO:0060363	Process	Cranial suture morphogenesis	IEA
GO:0060363	Process	Cranial suture morphogenesis	TAS	11001584
GO:0060900	Process	Embryonic camera-type eye formation	IMP	17070479
GO:0061029	Process	Eyelid development in camera-type eye	IMP	17070479
GO:0061309	Process	Cardiac neural crest cell development involved in outflow tract morphogenesis	IEA
GO:0070888	Function	E-box binding	IDA	17332325, 20804746
GO:0070888	Function	E-box binding	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071456	Process	Cellular response to hypoxia	IMP	18297062
GO:0071639	Process	Positive regulation of monocyte chemotactic protein-1 production	IMP	20007935
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	ISS
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15545268
GO:1902894	Process	Negative regulation of miRNA transcription	IDA	27027434
GO:2000144	Process	Positive regulation of DNA-templated transcription initiation	IDA	17332325
GO:2000147	Process	Positive regulation of cell motility	IEA
GO:2000147	Process	Positive regulation of cell motility	NAS	17332324
GO:2000773	Process	Negative regulation of cellular senescence	IMP	17690110
GO:2000780	Process	Negative regulation of double-strand break repair	IMP	17690110
GO:2000793	Process	Cell proliferation involved in heart valve development	IEA
GO:2000793	Process	Cell proliferation involved in heart valve development	IMP	20804746
GO:2000802	Process	Positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation	IEA

Other IDs

• MIM: 601622
• HGNC: 12428
• e!Ensembl: ENSG00000122691

Protein

• UniProt ID: Q15672
• Protein name: Twist-related protein 1 (Class A basic helix-loop-helix protein 38) (bHLHa38) (H-twist)
• Protein function: Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of
• PDB: 2MJV, 8OSB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	109 → 160	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Subset of mesodermal cells.
• Sequence:

  MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGV
  GGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQR
  TQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQVLQSDELDSKMASCSYVAH
  ERLSYAFSVWRMEGAWSMSASH

• Sequence length: 202

Pathways

KEGG:

Proteoglycans in cancer

Reactome:

Interleukin-4 and Interleukin-13 signaling
Regulation of RUNX2 expression and activity

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
Common craniosynostosis syndromes	Likely pathogenic	rs1788580776	RCV006255191	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs104894054	RCV002274112	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Robinow-Sorauf syndrome	Pathogenic	rs1788578357, rs1585616860, rs104894065, rs2486049961	RCV001333467 RCV000008445 RCV000008448 RCV003745304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen syndrome	Likely pathogenic; Pathogenic	rs1585616825, rs2115396414, rs2115397248, rs2115396610, rs2115396574, rs1233220987, rs2115396651, rs2115396782, rs2115396578, rs757253926, rs1554441992, rs2115396671, rs2115396763, rs2115396985, rs1554441987, rs2115396572, rs2115396737, rs982240587, rs1554441982, rs2486051486, rs778800284, rs2486049902, rs121909186, rs104894057, rs104894054, rs121909187, rs121909188, rs121909189, rs104894058, rs104894059, rs104894055, rs104894065, rs2486049984, rs2486049592, rs1554441993, rs754179756, rs2486049961, rs1585616989, rs2486051311, rs2486051149, rs2486051798, rs2486050139, rs1372603694, rs1554442015, rs1554442016, rs1554441989, rs1554442019, rs1554442082, rs1554441991, rs1563159945, rs1563160116, rs1563159980, rs1563160337, rs1585617402, rs1585617611, rs1585617865, rs1585617240, rs1585616948, rs1585617108, rs1585617015, rs1788579980, rs748476974, rs1788580077, rs1788580776, rs1788580326, rs1788583845, rs1788590614	RCV001720281 RCV001388848 RCV001388570 RCV001788547 RCV001991195 RCV001971103 RCV002001290 RCV002035398 RCV001946626 RCV001974999 RCV001947045 RCV002047158 RCV001930899 RCV001952826 RCV001943496 RCV001973545 RCV002249196 RCV003225766 RCV003060092 RCV002899093 RCV002958978 RCV003021088 RCV000008437 RCV000008438 RCV000008439 RCV000008440 RCV000008441 RCV000008442 RCV000008444 RCV000008446 RCV001390391 RCV001059805 RCV003152984 RCV005227949 RCV003315104 RCV005228026 RCV003745304 RCV003781046 RCV003781049 RCV003782689 RCV003804220 RCV003795226 RCV005220948 RCV000625526 RCV003766897 RCV000533193 RCV000653734 RCV000653736 RCV000653735 RCV000653733 RCV001472415 RCV000698045 RCV000687499 RCV000695036 RCV000803541 RCV000799522 RCV000796206 RCV000984623 RCV000985276 RCV002550586 RCV001263196 RCV001027722 RCV001035938 RCV001312832 RCV001212895 RCV001204316 RCV001246515 RCV001250541 RCV001263197 RCV001263199	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saethre-Chotzen syndrome with eyelid anomalies	Pathogenic	rs104894055	RCV000008447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sweeney-Cox syndrome	Pathogenic; Likely pathogenic	rs1323849138, rs1372603694, rs1554442016, rs748476974	RCV003314297 RCV004555088 RCV000513176 RCV001198862	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TWIST1-related craniosynostosis	Pathogenic; Likely pathogenic	rs2115396414, rs2115397248, rs2115396574, rs1233220987, rs2115396651, rs2115396782, rs2115396578, rs757253926, rs1554441992, rs2115396671, rs2115396763, rs2115396985, rs1554441987, rs2115396572, rs1554441982, rs2486051486, rs778800284, rs2486049902, rs121909186, rs121909187, rs121909188, rs104894059, rs104894055, rs104894065, rs121909190, rs2486049592, rs754179756, rs2486049961, rs1585616989, rs2486051311, rs2486051149, rs2486051798, rs2486050139, rs1372603694, rs1554442016, rs1554441989, rs1554441993, rs1554442019, rs1554442082, rs1554441991, rs1563159945, rs1563160116, rs1563159980, rs1563160337, rs1585617402, rs1585617611, rs1585617865, rs1585616948, rs1585617108, rs104894054, rs1788579980, rs748476974, rs1788580077, rs1788580776, rs1788580326, rs1788583845	RCV001388848 RCV001388570 RCV001991195 RCV001971103 RCV002001290 RCV002035398 RCV001946626 RCV001974999 RCV001947045 RCV002047158 RCV001930899 RCV001952826 RCV001943496 RCV001973545 RCV003060092 RCV002899093 RCV002958978 RCV003021088 RCV002512907 RCV001851736 RCV000706654 RCV002512908 RCV001390391 RCV001059805 RCV000008449 RCV005227949 RCV005228026 RCV003745304 RCV003781046 RCV003781049 RCV003782689 RCV003804220 RCV003795226 RCV005220948 RCV003766897 RCV001390587 RCV000653734 RCV000653736 RCV000653735 RCV000653733 RCV001472415 RCV000698045 RCV000687499 RCV000695036 RCV000803541 RCV000799522 RCV000796206 RCV001381187 RCV002550586 RCV000987855 RCV001035938 RCV001312832 RCV001212895 RCV001204316 RCV001246515 RCV001250541	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TWIST1-related disorder	Likely pathogenic; Pathogenic	rs754179756, rs1585617108, rs748476974	RCV004527848 RCV000985114 RCV003313989	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronal craniosynostosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SORAUF SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ablepharon	Ablepharon	BEFREE	30450715		★☆☆☆☆ Found in Text Mining only
Acrocephalosyndactylia	Acrocephalopolydactyly	LHGDN	12015302, 15735646		★☆☆☆☆ Found in Text Mining only
Acrocephalosyndactylia	Acrocephalopolydactyly	CTD_human_DG	15923834, 23354436		★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	CTD_human_DG	12221714		★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	29374071		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	31235507		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17967182		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22654667, 31233187		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	30021598		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22272264, 23182391, 23364532, 29443542, 29693173, 30923946, 31645542		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	29237910		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	22654667		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	20140954, 23029563		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	28887601		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	28332880		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28332880		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28421464, 28887601, 30591455		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30479630		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	20109307		★☆☆☆☆ Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Lymphoma	BEFREE	22155737		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	21389145, 27661106, 30368884		★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	27494404	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27693633, 30791220, 31268604, 31705846		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	37832352	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28923881		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28923881		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30476604		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	24703637	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	24703637	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	19802001, 26311513		★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	CTD_human_DG	15923834, 23354436		★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	19755431		★☆☆☆☆ Found in Text Mining only
Apert-Crouzon Disease	Apert-Crouzon Disease	CTD_human_DG	15923834, 23354436		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28421464, 28887601, 30591455		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30809744		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	18663125		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24374632	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26518209, 31351189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	33008450	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astigmatism	Astigmatism	BEFREE	28831306		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	31289562		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	22839202	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23449258	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	30809744		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	31235507		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30316181		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	28228568, 30012821, 31359110		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19025588		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	23825006		★☆☆☆☆ Found in Text Mining only
Baller-Gerold syndrome	Baller-Gerold Syndrome	BEFREE	11754069, 9934984		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	29084829	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	15958559, 21694441		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19674832, 20473948, 21083641, 22331730, 23682613, 25684140, 26027762, 28106542, 28893347, 30213291		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	16251895, 8988167		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17900349	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	26667932	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	22766796	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CTD_human_DG	12221714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	ORPHANET_DG	17343269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	BEFREE	8988167		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly Type D	Brachydactyly	Pubtator	24022874	Associate	★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE D	Brachydactyly	BEFREE	24022874		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23157797	Associate	★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	16229805		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15864483, 16029926, 17437280, 17785550, 17909010, 17998253, 19064546, 19336515, 19373776, 19829046, 20890129, 20920982, 21837480, 21983900, 22006115, 22060274, 22266852, 22457607, 22967435, 22986510, 23185544, 23815808, 24085799, 24607904, 24619707, 24719557, 24950909, 25053741, 25182808, 25586771, 25759817, 25892968, 26062653, 26124343, 26196741, 26285644, 26287601, 26419593, 26460733, 26520789, 26945992, 26975371, 27237323, 27315462, 27412325, 27524420, 27930738, 28086829, 28112378, 28423483, 28677228, 28987542, 29016671, 29073077, 29716631, 30076850, 30272327, 30518916, 30552711, 30804457, 30941644, 31202462, 31444414, 31676574		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15545268, 15736421, 17611401, 17785550, 17998253, 18062917, 18381931, 18485221, 18505078, 19829046, 20843787, 20924103, 21284870, 21324165, 21383541, 21387303, 21502402, 21663619, 21665913, 21837480, 21967632, 22006115, 22457607, 22891766, 22967435, 22986510, 23011154, 23091415, 23815808, 24719557, 24950909, 25053741, 25182808, 25317801, 25759817, 25919570, 26295469, 26342198, 26452468, 26460733, 26491966, 26945992, 27094683, 27237323, 27412325, 27930738, 28107418, 28112378, 28222775, 28337662, 28423483, 28901319, 31001932, 31533668, 32271429, 32300922, 33582945, 34362391, 34830027, 36431925, 36654075, 37357535, 38003483	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34698000, 37862167	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	28893223	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	31917787	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15736421, 17786187, 21461979, 23613408, 23967308, 26023795, 26295469, 27237323, 28368406, 30197332, 36474162	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26832848	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11343741, 22891766, 27724883, 28099910, 29311157, 30213291, 30739164		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	32661742	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	28545522, 33817718	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	20505321	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	24870796	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	28901319	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	21502402	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	29237910	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17000670, 19615090, 20219012, 22488108, 24091674, 24840636, 25760076, 27460728, 28742200, 30046595, 30674871, 31730902, 32461589, 33760121, 34408201, 35345355, 36669583, 37259735, 37495969	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	24508839		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	18769130, 20924103	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	25413006	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19674832, 21083641, 22331730, 23682613, 25684140, 26027762, 28106542, 28893347, 30213291		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18331824, 20689556, 21390191, 22272264, 22654667, 22673193, 23626784, 24845567, 25197348, 25460568, 25847239, 26122848, 26330060, 28851812, 29443542, 29909489, 31487504		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	17211477, 28488542, 30280764	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26219899, 31705846, 31935687, 36764935	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25031735, 29138866, 30824757, 31658319, 31915310, 36639679	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32124963	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	25413006	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18505078, 21834956, 24870796, 32124963, 32784485	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	24870796, 27718152		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	29237910, 30739164		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19957335, 23167357, 25867064, 27876874, 27890656, 28488542, 28815582, 28861161, 29348456, 29665439, 30272327, 30280764, 30548372, 31175180		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	27913947, 28415645, 28540777, 28562119, 28608388, 28624046, 28838265, 29288288, 29341165, 30610247, 30643994, 30650185, 30760409, 30917826, 31222683, 31602579, 31646450		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	28193280	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26124343		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	23449258, 32284067	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	23449258	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	28228568, 31359110		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	23449258, 28975602	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	28975602	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21129853, 22245869		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	21129853, 22245869, 24974259		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22446083, 22540680, 31072421	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	32124963	Associate	★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	19276370		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	29204790		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	32337580	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29642406, 31685313		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31219650		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	20109310, 24717871, 25469646, 26625351, 28238741, 28374869, 30982052		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	17882905, 22104252, 31175712, 31589812		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	27225469		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30028990		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15252840, 23684708, 27458056, 27494849, 28627611, 28881781, 29115546, 29451183, 31545476		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	30021598, 31658326	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	31217079		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19002529, 20140954, 21461979, 21464926, 23029563, 23684708, 24402192, 25528769, 25600770, 27458056, 28104986, 28177885, 28345456, 28430582, 28627611, 29299158, 29468299, 30556860, 30643994, 30746598, 30917826, 31243668, 31849487		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	20140954, 23684708, 31243668		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21298349, 21461979, 21464926, 22880157, 23029563, 23975090, 25528769, 26045788, 26379394, 26983880, 28104986, 28345456, 28430582, 29104111, 29202800, 29297384, 29451183, 29504907, 30531836, 30556860, 32337580, 32467409, 33752711, 33884652, 33892797, 34199046, 34526059, 36258646, 36789689, 36807490	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25738332, 31545476	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	29562309		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	28814329	Associate	★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	28844842		★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	28332880		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	8988167		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24635570		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	24969562	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31072421		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	22982246		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21559426, 26228789		★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	28332880		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	15737130		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28152509, 29138866, 29204790, 30569446, 31658319		★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	BEFREE	17343269, 22569119, 23354436, 29215649		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coronary Artery Disease	Coronary artery disease	Pubtator	27494404, 31917787	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial Dysostosis	Craniofacial dysostosis	Pubtator	35331937	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	14629875, 26910679, 27884935, 32510873, 34586326, 35331937, 9792856	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	10585766, 10751173, 10951518, 11173846, 11748846, 11754069, 11781872, 11977182, 15099347, 15802514, 16502419, 17343269, 17621648, 17686002, 20683987, 20727876, 21082653, 21708297, 21978707, 23239640, 23825006, 24127277, 24166674, 27502468, 28126037, 28369379, 28521820, 28769044, 28844842, 29215649, 29561715, 29663378, 30040876, 30450715, 7909651, 8988167, 9259286, 9585583, 9792856, 9934984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CTD_human_DG	12221714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	LHGDN	17343269, 17414280, 18391499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CLINVAR_DG	10649491, 11992718, 14513358, 15923834, 16251895, 17693524, 19373776, 19483581, 19755431, 20184424, 20643727, 21520333, 24127277, 25271085, 8988166, 8988167, 9585583, 9792856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG	12221714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	GENOMICS_ENGLAND_DG	17343269, 8988167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	UNIPROT_DG	17343269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	LHGDN	18663125		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	28980049		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29106860, 29571794		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20650323, 24635637, 30518918		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30656862		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	30479630		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	29383611, 30963398		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28126037		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	9792856	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29157869, 31250262		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29157869, 31250262		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37948519	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	22629296	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31506251		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	21389145		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	20868477, 29374225		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	22457607		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	18766116	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	21333765		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	24127277		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30479630		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30896447		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21940036, 24002805, 24699721, 27171242, 28975990, 29796186, 31819476		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	26762267	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26367784, 27171242, 27881125, 28032599, 28975990, 33235117, 33457409, 34948036, 36140779, 37169340	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26198055, 27881125, 30942161		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	26198055, 27881125	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	27091669		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	35239721	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	30067950		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25867064, 27876874, 27890656, 28488542, 29665439, 30280764, 31175180		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	21732143, 22050045, 22668877, 29029429, 30611739		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	21732143, 22668877, 29029429, 30611739, 31158427		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22050045, 22441818, 27438288, 28653599, 28899457	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16822877, 20025748, 22441818, 26683359, 29299035, 33293482, 36474162, 36553636	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	28873262, 31639426		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	22446083		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	20563638		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	26229009, 29915227, 31776330		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	17998253		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontonasal dysplasia	Frontonasal Dysplasia	BEFREE	28369379		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	25561797		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	25027394		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	21503964		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20646316, 23776187, 23826359, 26036627, 28351300, 29754406, 32705169, 40052499	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23826359, 27705917, 28351300, 29754406, 29844871, 31540485		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23826359, 27705917, 28351300, 29754406, 31540485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	16229805, 22184289, 28184914, 29296200, 29499931, 29754406, 31540485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	LHGDN	16229805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	20646316, 35219305	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	35694846, 40653505	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gliosarcoma	Gliosarcoma	Pubtator	22288519, 23886156, 28193280	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	14513358, 23825006, 9792856		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	25977584		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25146389		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33298572	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21559426, 26228789		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	24703637	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	28710479		★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	28106542	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	32300922	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	15545268, 27237323	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	19806464		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	30936464		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	30936464	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29891550, 31813126		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	36991485, 38409834	Associate	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole, Partial	Hydatidiform Mole	BEFREE	29562309		★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	27435064		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	27494404	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	33235117	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	28814329	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19483581, 28915063		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20187102, 30402835	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26342198, 26379394, 26819207, 28742200, 30556863, 33108472	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28915063, 31351013		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19893041, 28179498, 30069061		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	34370624	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	29745253		★☆☆☆☆ Found in Text Mining only
Ileus	Ileus	BEFREE	29982248		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	27798109		★☆☆☆☆ Found in Text Mining only
Insulin-Like Growth Factor I Deficiency	Insulin-Like Growth Factor I Deficiency	BEFREE	24491388		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10649491, 27798109		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	30919159		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	20682973, 26124343		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	31131995		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	30689987		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	CTD_human_DG	22155737		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31685313		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	17403902, 26228789, 28540777, 28812384, 29847820, 30517546		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	10649491		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	9792856	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23832765, 26832848	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	29187870, 30026340		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	26023795	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26023795	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26832848, 37736724	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26832848		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	28112378	Associate	★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	29693173		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	25248475		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24150986, 24931737		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17987801, 18480983		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20219012, 21748764, 22488108, 22982861, 23696034, 23864307, 23970349, 26419593, 26538215, 26582088, 26778753, 26980408, 27027434, 27460728, 27750241, 28032603, 28368406, 28677802, 28742200, 29113224, 29340101, 29748601, 29844124, 30081924, 30271487, 30362512, 30674871, 30993435, 31401158, 31417635, 31572802		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19893041		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	25413006	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	37862167	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17967182, 22272264, 22673193, 23626784, 25460568, 28883453, 31487504, 35897813, 36517633	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20689556	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22654667, 23982216, 25368381, 29909489, 31233187		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18505078, 21104359, 21464926, 21854747, 23157797, 24288553, 24418088, 24719557, 25317801, 25528769, 26219899, 26819207, 28104986, 30197332, 33235117, 33817718, 33884652	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20025748, 22441818, 24175775, 30021598, 30556860, 31876727	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28556516, 31722870		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	30876800		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25146389		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	28594258, 29260418, 30143249		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15864483, 17074596, 17437280, 17785550, 17998253, 19064546, 19336515, 19373776, 19829046, 20890129, 20920982, 21383541, 21837480, 21983900, 22006115, 22056872, 22266852, 22429463, 22457607, 22967435, 22986510, 23815808, 24085799, 24607904, 24619707, 24719557, 24950909, 25053741, 25182808, 25239453, 25586771, 25759817, 25892968, 26062653, 26124343, 26196741, 26285644, 26287601, 26419593, 26460733, 26520789, 26945992, 26975371, 27237323, 27315462, 27412325, 27524420, 27930738, 28086829, 28112378, 28423483, 28677228, 28987542, 29016671, 29073077, 29716631, 30076850, 30272327, 30518916, 30552711, 30804457, 30903102, 30941644, 31202462, 31444414, 31676574		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24002805, 24699721, 27171242, 28975990, 29796186, 31819476		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	21732143, 22668877, 29029429, 30611739		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28368406, 30066890, 30154425		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18331824, 20689556, 21390191, 22272264, 22654667, 22673193, 23626784, 24845567, 25197348, 25460568, 25847239, 26122848, 26330060, 28415380, 28851812, 29443542, 29909489, 31487504		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24150986, 24931737		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19957335, 23167357, 25867064, 26762267, 27876874, 28488542, 28815582, 28861161, 29348456, 29665439, 30272327, 30548372, 30760409		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18349132, 26940738, 27693633, 28167680, 28599281, 29098031, 31022384, 31175094, 31705846		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15958559, 18453541, 22797064, 22896337, 23775496, 23982216, 24435707, 24491388, 26071255, 26311513, 27121312, 28120266, 28223364, 28256535, 28394356, 28466252, 28484075, 29452232, 29455655, 29536528, 29848555, 30365107, 30714183, 31383001		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29518321		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15252840, 19051271, 24204899, 25561797, 25780290, 27280289, 27835599, 27878307, 28718375, 29029429, 30158543, 30650185, 30698309, 31545430		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	19806464		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24848707, 26289126, 27661106		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19674832, 21083641, 22331730, 23682613, 25684140, 26027762, 28106542, 28893347, 30213291		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14724576, 15900593, 17074596, 17909010, 18331824, 18453541, 19002529, 19064546, 19276370, 19373776, 19806464, 20140954, 20563638, 20714342, 21129853, 21461979, 21876555, 21883379, 21919891, 21971638, 22050045, 22155737, 22253230, 22331730, 22891766, 22975381, 23028063, 23091415, 23613408, 23684708, 23982216, 24435707, 24845567, 24848707, 24927592, 25061102, 25146389, 25368021, 25378227, 25426550, 25561797, 25578726, 25597482, 25600770, 25622896, 25892968, 26023736, 26084282, 26115637, 26124343, 26141861, 26194471, 26289126, 26330060, 26391953, 26718342, 26973246, 26975371, 26983880, 27412325, 27438288, 27661106, 27793033, 27890656, 27930738, 28104986, 28120266, 28152509, 28167680, 28177885, 28332880, 28381546, 28421464, 28484075, 28627611, 28637082, 28851812, 28982894, 29029429, 29115546, 29138866, 29204790, 29296200, 29311157, 29402128, 29475036, 29661142, 29665439, 29795373, 29844124, 29909489, 29920276, 30069061, 30154425, 30197332, 30411685, 30504405, 30548372, 30650185, 30716360, 30733340, 31138781, 31383001, 31487504, 31534546, 31705846, 31712951		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	16510576		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21129853, 22245869		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15252840, 27458056, 27494849, 28627611, 28881781, 29115546, 29451183, 31545476		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30298962		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16322226, 17332325, 17785550		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21796367, 22056872, 22457607, 23091415, 26194471, 27237323, 27524420, 28086829, 29073077, 31075939		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	37762215	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	37762215	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	26208847		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	26208847		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17308088, 23222305, 24870796, 25061102, 30089785		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18974133		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23222305, 24870796, 25061102, 26321866, 30911007, 31171904, 32640040	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29048639	Inhibit	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30656862		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10649491		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	24870796		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	23886156	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	30609805	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	19345188, 25663706		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	25061102, 27170270		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	18453541, 23982216		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG	12221714		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	21333765		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME	MILES-CARPENTER X-Linked MENTAL RETARDATION SYNDROME	BEFREE	29209270, 29387037, 29482376, 30663434, 31319707		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	31109821		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	30755531		★☆☆☆☆ Found in Text Mining only
Muenke Syndrome	Muenke syndrome	Pubtator	30651579	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36619896	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	22515221, 33941102	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	20562331, 22983574		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	20562331, 22983574, 37736724	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	21123820		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	19393422, 22391064, 23157229, 24717871, 25469646, 27176491, 27776277, 28281440, 29311948, 29580813, 31403137		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	14724576, 25597482, 27793033, 30973923		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25674256, 32264733	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15713962, 16229805, 17074596, 17785550, 18598946, 19806464, 20818389, 21083641, 21129853, 21464926, 21503964, 21748764, 21796367, 21854747, 21896644, 21971638, 22006115, 22006371, 22050045, 22155737, 22360285, 22429463, 22441818, 22654667, 22967435, 23091415, 23150175, 23222305, 23364532, 23664538, 23682613, 23684708, 23838935, 23903006, 24619707, 24699721, 24719557, 24950909, 25061102, 25146389, 25200065, 25368021, 25429425, 25528769, 25663706, 25893917, 25955272, 25964539, 25989272, 26023736, 26084282, 26115637, 26289126, 26501866, 26582088, 26762267, 26973246, 27547006, 27693633, 27835599, 27876874, 27878307, 27890656, 27920500, 28032603, 28081635, 28086829, 28145547, 28222775, 28278077, 28415380, 28556516, 28599281, 28608388, 28744148, 28873262, 28975990, 29110275, 29152120, 29204790, 29369542, 29443542, 29468299, 29663921, 29665439, 29754406, 29844124, 29845746, 29909489, 30089785, 30197332, 30554018, 30610490, 30698309, 30716360, 30973923, 30993382, 31158427, 31383001, 31428960, 31646450, 31655611, 31754067		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30169840		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22249030, 25475555		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	37796695	Associate	★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	BEFREE	30169840		★☆☆☆☆ Found in Text Mining only
Nodular fasciitis	Nodular Fasciitis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22673193, 23364532, 23626784, 24117170, 25197348, 25460568, 26330060, 26360779, 27992365, 28851812, 29845746, 29909489, 30171258, 30240003, 30404076, 30714578, 31233187, 31344049, 31351126, 31395502		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	11343741		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19345188, 20943789, 25128964, 26945992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	26945992	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	22967435		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	32265096	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17900349, 20650323, 22820497, 30518918	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	22820497	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	22820497		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28220902		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	19597909		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15900593, 23280703, 24092570, 24468065, 28915582, 28943960, 31285765		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	15900593		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17786187, 24092570, 24468065, 38191892	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	30548372		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19957335, 23167357, 25867064, 27876874, 28488542, 28815582, 28861161, 29348456, 29665439, 30272327, 30548372		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23167357, 23621216, 24762435, 28415744, 28488542, 29952249, 30628686, 32205869, 33076245, 33920140, 33921111, 36123378	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18349132, 26940738, 27693633, 28167680, 28599281, 29098031, 31022384, 31175094, 31705846		★☆☆☆☆ Found in Text Mining only
Pancreatic Carcinoma	Pancreatic cancer	Pubtator	30451796	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17236203, 18349132		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	30066876		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31584877	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31705846, 36764935	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	18766116	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26289126, 27661106, 30265861		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	28332880		★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31341908		★☆☆☆☆ Found in Text Mining only
Pfeiffer Syndrome	Pfeiffer Syndrome	CTD_human_DG	15923834, 23354436		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	28332880		★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	20563638, 23150175		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	29844871		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	ORPHANET_DG	17343269		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	17652084, 30372441		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	9585583		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	17998253		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15958559, 16585154, 18453541, 22797064, 22896337, 23028063, 23775496, 23982216, 24435707, 24491388, 26071255, 26311513, 27121312, 28120266, 28223364, 28256535, 28394356, 28466252, 28484075, 29452232, 29455655, 29536528, 29848555, 30365107, 30714183, 31383001		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15958559, 17394502		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15958559, 20976069, 22797064, 24418088, 27121312, 27237323, 28466252, 28832071, 30365107, 30754655, 31060254, 33605548, 34399719, 35163245, 35331302, 36418859, 37298233, 37434219	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	28484075		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	30847945		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	16251895, 8988167		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28915063		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28883453	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19893041, 28179498		★☆☆☆☆ Found in Text Mining only
Radial aplasia	Radial Aplasia	BEFREE	9934984		★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	30507684		★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	BEFREE	28831306		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28152509, 29138866, 29204790, 31658319		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31315922, 31506251		★☆☆☆☆ Found in Text Mining only
Robinow Sorauf syndrome	Robinow-Sorauf syndrome	GENOMICS_ENGLAND_DG	8988167, 9585583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Robinow Sorauf syndrome	Robinow-Sorauf syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Robinow Sorauf syndrome	Robinow-Sorauf syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	20125191		★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	10094188, 10649491, 11248247, 11280946, 11342579, 11746028, 11754069, 11854168, 11977182, 12116251, 14513358, 15099347, 15151448, 15735646, 15737130, 15802514, 16251895, 16502419, 16526917, 17074596, 18855684, 19373776, 19483581, 19755431, 19860490, 19952666, 20184424, 21333765, 21708297, 21814570, 21876555, 22569119, 22628249, 22839202, 22982246, 23354436, 23527594, 23825006, 23958897, 25271085, 26084282, 26289989, 28099910, 28220539, 28369379, 28521820, 29215649, 29290519, 29663378, 29665811, 30040876, 30372441, 30450715, 30651579, 31095462, 8988166, 8988167, 9215678, 9580658, 9585583, 9792856		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	CLINVAR_DG	10649491, 11992718, 14513358, 15923834, 16251895, 17693524, 19373776, 19483581, 19755431, 20184424, 20643727, 21520333, 24127277, 25271085, 8988166, 8988167, 9585583, 9792856		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	UNIPROT_DG	11754069, 8988166, 8988167		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	CTD_human_DG	15923834, 23354436		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	GENOMICS_ENGLAND_DG	17343269, 8988167, 9585583		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	ORPHANET_DG	9585583		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saethre-Chotzen syndrome	Saethre-Chotzen Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saethre-Chotzen Syndrome with Eyelid Anomalies	Saethre-Chotzen Syndrome with Eyelid Anomalies	CTD_human_DG	11474656		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen Syndrome with Eyelid Anomalies	Saethre-Chotzen Syndrome with Eyelid Anomalies	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	17343269, 19755431		★☆☆☆☆ Found in Text Mining only
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	26501866	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	26832177	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	26501866		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	24322444		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	21983934	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28556516		★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	31639426		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG	12221714		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	BEFREE	17343269, 19755431		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	ORPHANET_DG	17343269		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	26360820	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	26983880, 30928770		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	LHGDN	15313894		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	18033314, 25806852		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	22515221, 25806852, 26376612, 26930587	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	22986510	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	26930587	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	31299087	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31842825		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31842825	Stimulate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	37922232	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17925286		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22050045, 23557251, 24870796, 28032603, 29101499, 30197332		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16822877, 21732143, 22006371, 22360285, 24895167, 28653599, 29029429, 29299035, 29475036, 31158427		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18505078, 21559372, 22201613, 24805866, 26036622, 26214683, 30197332, 33542221, 33761659	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24157255, 29333702, 30341909		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	24148247, 25378227		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19051271, 24204899, 25561797, 25780290, 27280289, 27835599, 27878307, 28533522, 28718375, 29029429, 30158543, 30650185, 30698309, 31545430		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12414534, 16521229, 18158559, 18442194, 19051271, 20178103, 21104359, 21854747, 24175775, 24204899, 25144746, 25402957, 25561797, 25780290, 27048589, 27654478, 27835599, 28718375, 28982309, 29615148, 31835645, 31876727, 34895039, 35242497, 36580668, 37277751, 38358184	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17512904, 17886095		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	19806464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31917787	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWEENEY-COX SYNDROME	SWEENEY-COX SYNDROME	BEFREE	28369379, 30450715		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SWEENEY-COX SYNDROME	SWEENEY-COX SYNDROME	UNIPROT_DG	28369379		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SWEENEY-COX SYNDROME	SWEENEY-COX SYNDROME	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndactyly	Syndactyly	BEFREE	8988167		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG	12221714		★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	BEFREE	15253176		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG	12221714		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	BEFREE	20570969		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26360820, 27113414		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24288553, 30265861	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	21389145, 24848707, 26289126, 27661106		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	21389145, 22899291	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	27661106, 38256193	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24848707, 26289126, 27661106		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22641097, 22899291, 27661106	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	21389145	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	25772244	Stimulate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	23613408		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	4073118, 9215678		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG	12221714		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25200065, 28278077, 29661738, 30804457, 31138781, 31308076		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25684485, 25759817, 31308076, 35802537, 36782089	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34108545	Stimulate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18663125		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	18663125		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	28769044		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20809941, 23056278, 23613408, 24577895, 24856504, 28106542, 28893347, 29250666, 29854012, 37215997	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28106542		★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	BEFREE	30636710		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	37175770	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17925286, 21284870, 22245869, 26057381, 29207526, 29899322, 30402835, 37175770	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	26321866	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	31917787	Associate	★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	28844842		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	25955272, 25981568		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	27798109		★☆☆☆☆ Found in Text Mining only