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
• Disease Acronyms (UniProt): CRS1, SCS, SWCOS
• 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	IMP	17690110
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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	ISA
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	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:0005515	Function	Protein binding	IPI	10749989, 11248247, 18504427, 18598946, 21983900, 22975381, 24525235, 25402006, 25609649, 25893917, 28514442, 32814053
GO:0005634	Component	Nucleus	IDA	10749989, 15545268
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007517	Process	Muscle organ development	IEA
GO:0008134	Function	Transcription factor binding	IPI	15545268
GO:0010628	Process	Positive regulation of gene expression	IMP	17003487
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	18297062
GO:0014067	Process	Negative regulation of phosphatidylinositol 3-kinase signaling	IMP	17003487
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019904	Function	Protein domain specific binding	IEA
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	21873635
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:0033128	Process	Negative regulation of histone phosphorylation	IMP	17690110
GO:0035067	Process	Negative regulation of histone acetylation	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035359	Process	Negative regulation of peroxisome proliferator activated receptor signaling pathway	IEA
GO:0042473	Process	Outer ear morphogenesis	TAS	11001584
GO:0042476	Process	Odontogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	TAS	11001584
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043425	Function	BHLH transcription factor binding	IPI	10749989
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IEA
GO:0043518	Process	Negative regulation of DNA damage response, signal transduction by p53 class mediator	IMP	17690110
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	16888803
GO:0045766	Process	Positive regulation of angiogenesis	NAS	17987801
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	25981568
GO:0045892	Process	Negative regulation of transcription, DNA-templated	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	IMP	12270142
GO:0048511	Process	Rhythmic process	IEA
GO:0048642	Process	Negative regulation of skeletal muscle tissue development	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IMP	8988166, 8988167
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060021	Process	Roof of mouth development	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:0070888	Function	E-box binding	IDA	17332325, 20804746
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071456	Process	Cellular response to hypoxia	IMP	18297062
GO:0071639	Process	Positive regulation of monocyte chemotactic protein-1 production	IMP	20007935
GO:2000144	Process	Positive regulation of DNA-templated transcription, initiation	IDA	17332325
GO:2000147	Process	Positive regulation of cell motility	IMP	17332325
GO:2000147	Process	Positive regulation of cell motility	NAS	17332324
GO:2000276	Process	Negative regulation of oxidative phosphorylation uncoupler activity	IEA
GO:2000679	Process	Positive regulation of transcription regulatory region DNA binding	IMP	12270142
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	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

Causal
Disease term	Disease name	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049
Coronal craniosynostosis	Coronal craniosynostosis	rs1566992093
Craniosynostosis	Craniosynostosis, Craniosynostosis, Type 1	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350	12221714, 8988167, 11992718, 10649491, 20643727, 16251895, 17343269, 24127277, 19755431, 14513358, 17693524, 9585583, 15923834, 19373776, 9792856, 21520333, 25271085, 20184424, 8988166, 19483581
Cryptorchidism	Cryptorchidism, Bilateral Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	19806464
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Migraine	Migraine Disorders	rs794727411
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Parietal foramina	PARIETAL FORAMINA	rs104894191, rs104894192, rs104894193, rs587776614, rs104894196, rs104894197, rs387906325, rs2113498725, rs104893896, rs121912971, rs121912972, rs1561643060, rs587777700, rs587777702
Pfeiffer syndrome	Pfeiffer Syndrome	rs121918487, rs121918488, rs121918492, rs121918494, rs79184941, rs121918495, rs121918497, rs281865420, rs121918499, rs121918502, rs121918503, rs121918505, rs879253719, rs1589828632, rs121918506, rs121918507, rs879253721, rs121918510, rs121909627, rs886037837, rs776587763, rs1057519047, rs1057519037, rs1554928884, rs376416531	15923834, 23354436
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	9585583
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Robinow-sorauf syndrome	Robinow Sorauf syndrome	rs1585616860, rs104894065	8988167, 9585583
Saethre-chotzen syndrome	Saethre-Chotzen Syndrome, Saethre-Chotzen syndrome	rs121909186, rs104894057, rs104894054, rs121909187, rs121909188, rs121909189, rs104894058, rs104894059, rs879253718, rs4647924, rs1554442015, rs1554441989, rs1585617240, rs1585616948, rs1585617015	24127277, 21520333, 19483581, 19373776, 16251895, 19755431, 11992718, 8988167, 9792856, 15923834, 20643727, 8988166, 9585583, 20184424, 17343269, 11754069, 14513358, 17693524, 23354436, 25271085, 10649491
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sweeney-cox syndrome	SWEENEY-COX SYNDROME	rs1554442016	28369379

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Trigonocephaly	Trigonocephaly		12221714	ClinVar
Scaphocephaly	isolated scaphocephaly			GenCC
Plagiocephaly	isolated plagiocephaly			GenCC
Brachycephaly	isolated brachycephaly			GenCC
SWEENEY-COX SYNDROME	Sweeney-Cox syndrome			GenCC
Ischemic Stroke	Ischemic Stroke			GWAS
Coronary artery disease	Coronary artery disease			GWAS
Moyamoya Disease	Moyamoya Disease			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS
Coronary Heart Disease	Coronary Heart Disease			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Acrocephalosyndactylia	Associate	11342579, 17003487, 18219546, 20125191, 22839202, 25271085, 28814329, 30040876, 30651579, 39794020, 9792856
Adenocarcinoma	Associate	17967182, 18286686, 28102292, 31876727
Adenocarcinoma Mucinous	Associate	32840168, 34103667
Adenocarcinoma of Lung	Associate	17967182, 21731750, 22272264, 28791412, 31970942, 38508329
Adenoma	Associate	23029563, 32467409
Adenoma Pleomorphic	Stimulate	26832177
Airway Obstruction	Associate	28883453
Allan Herndon Dudley syndrome	Associate	22515221
Alopecia	Associate	27060448
Angina Unstable	Associate	27494404
Anophthalmia with pulmonary hypoplasia	Associate	37832352
Aortic Diseases	Inhibit	24703637
Aortic Valve Calcification of	Inhibit	24703637
Arthritis Rheumatoid	Associate	24374632
Asthma	Associate	33008450
Ataxia	Associate	22839202
Atherosclerosis	Associate	23449258
Auriculo condylar syndrome	Associate	34750192
Barrett Esophagus	Associate	29084829
Bone Diseases	Associate	17900349
Bone Diseases	Stimulate	26667932
Bone Neoplasms	Associate	22766796
Brachydactyly Type D	Associate	24022874
Brain Neoplasms	Associate	23157797
Breast Neoplasms	Associate	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
Breast Neoplasms	Stimulate	34698000, 37862167
Breast Neoplasms Male	Associate	28893223
Calcinosis	Associate	31917787
Calcinosis Cutis	Associate	21663619, 25182808, 25772244
Capillary Malformation Arteriovenous Malformation	Associate	36991485
Carcinogenesis	Associate	15736421, 17786187, 21461979, 23613408, 23967308, 26023795, 26295469, 27237323, 28368406, 30197332, 36474162
Carcinogenesis	Stimulate	26832848
Carcinoma	Associate	32661742
Carcinoma Adenoid Cystic	Associate	28545522, 33817718
Carcinoma Basal Cell	Inhibit	20505321
Carcinoma Basal Cell	Associate	24870796
Carcinoma Ductal	Associate	28901319
Carcinoma Ductal Breast	Associate	21502402
Carcinoma Endometrioid	Associate	29237910
Carcinoma Hepatocellular	Associate	17000670, 19615090, 20219012, 22488108, 24091674, 24840636, 25760076, 27460728, 28742200, 30046595, 30674871, 31730902, 32461589, 33760121, 34408201, 35345355, 36669583, 37259735, 37495969
Carcinoma Intraductal Noninfiltrating	Associate	18769130, 20924103
Carcinoma Large Cell	Associate	25413006
Carcinoma Non Small Cell Lung	Associate	22673193, 24117170, 25197348, 26819207, 27775799, 29956809, 30171258, 30714578, 33337349, 34342121
Carcinoma Ovarian Epithelial	Associate	17211477, 28488542, 30280764
Carcinoma Pancreatic Ductal	Associate	26219899, 31705846, 31935687, 36764935
Carcinoma Renal Cell	Associate	25031735, 29138866, 30824757, 31658319, 31915310, 36639679
Carcinoma Renal Cell	Stimulate	32124963
Carcinoma Small Cell	Inhibit	25413006
Carcinoma Squamous Cell	Associate	18505078, 21834956, 24870796, 32124963, 32784485
Carcinosarcoma	Associate	28193280
Carotid Artery Diseases	Associate	23449258, 32284067
Carotid Stenosis	Associate	23449258
Cell Transformation Neoplastic	Associate	26342198
Cerebral Infarction	Associate	23449258, 28975602
Cerebral Small Vessel Diseases	Associate	28975602
Cholangiocarcinoma	Associate	22446083, 22540680, 31072421
Cholangitis Sclerosing	Associate	32124963
Choriocarcinoma	Associate	38409834
Chromosomal Instability	Stimulate	32337580
Colonic Neoplasms	Associate	30021598, 31658326
Colorectal Neoplasms	Associate	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
Colorectal Neoplasms	Stimulate	25738332, 31545476
Congenital Abnormalities	Associate	28814329
Congenital contractural arachnodactyly	Associate	24969562
Coronary Artery Disease	Associate	27494404, 31917787
Craniofacial Dysostosis	Associate	35331937
Craniosynostoses	Associate	14629875, 26910679, 27884935, 32510873, 34586326, 35331937, 9792856
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	9792856
Dermatitis Exfoliative	Associate	22515221
Developmental Disabilities	Associate	9792856
Diabetes Mellitus Type 1	Associate	37948519
Diabetic Nephropathies	Associate	22629296
Drug Related Side Effects and Adverse Reactions	Associate	26832848
Ductus Arteriosus Patent	Associate	18766116
Endometrial Hyperplasia	Associate	26762267
Endometrial Neoplasms	Associate	26367784, 27171242, 27881125, 28032599, 28975990, 33235117, 33457409, 34948036, 36140779, 37169340
Endometriosis	Associate	26198055, 27881125
Eosinophilic Esophagitis	Associate	35239721
Esophageal Neoplasms	Associate	22050045, 22441818, 27438288, 28653599, 28899457
Esophageal Squamous Cell Carcinoma	Associate	16822877, 20025748, 22441818, 26683359, 29299035, 33293482, 36474162, 36553636
Extranodal Extension	Associate	38358184
Fibrocartilaginous embolism	Associate	33378011
Fibrosis	Associate	28883453
Fractures Multiple	Associate	18219546
Glioblastoma	Associate	20646316, 23776187, 23826359, 26036627, 28351300, 29754406, 32705169, 40052499
Glioma	Stimulate	20646316, 35219305
Glioma	Associate	35694846, 40653505
Gliosarcoma	Associate	22288519, 23886156, 28193280
Granuloma Plasma Cell	Associate	25189096
Granulosa cell tumor of the ovary	Associate	23071632
Head and Neck Neoplasms	Inhibit	33298572
Heart Valve Diseases	Inhibit	24703637
Hemangioblastoma	Associate	28710479
Hemangioma Cavernous Central Nervous System	Associate	36914857
Hemangiopericytoma	Associate	23029385
Hematuria	Associate	28106542
Hepatitis C	Associate	32300922
Hereditary Breast and Ovarian Cancer Syndrome	Associate	15545268, 27237323
Holoprosencephaly	Associate	30936464
Hydatidiform Mole	Associate	36991485, 38409834
Hyperlipidemias	Associate	27494404
Hypersensitivity Immediate	Associate	33235117
Hypertension Pulmonary	Associate	28814329
Hypomagnesemia primary	Associate	35572839
Hypoxia	Associate	20187102, 30402835
Hypoxia	Stimulate	26342198, 26379394, 26819207, 28742200, 30556863, 33108472
Hypoxia Brain	Associate	26819207
Hypoxia Brain	Stimulate	27535224
Idiopathic Pulmonary Fibrosis	Associate	34370624
Impotence Vasculogenic	Associate	31936664, 36418859
Infarction Anterior Cerebral Artery	Associate	27494404
Inflammation	Associate	24718681, 37948519
Inflammatory Breast Neoplasms	Associate	19829046
Intracranial Arteriosclerosis	Associate	29651704
Iridogoniodysgenesis and skeletal anomalies	Associate	24022874
Keratosis Actinic	Associate	31299087
Kimura Disease	Associate	26367784
Learning Disabilities	Associate	9792856
Leukemia	Associate	23832765, 26832848
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	21123820
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	26023795
Leukemia Myeloid	Associate	26023795
Leukemia Myeloid Acute	Stimulate	26023795
Leukemia Myeloid Acute	Associate	26832848, 37736724
Leukocyte adhesion deficiency type 1	Associate	28112378
Lown Ganong Levine Syndrome	Associate	24719557
Lung Diseases	Associate	25413006
Lung Diseases	Stimulate	37862167
Lung Neoplasms	Associate	17967182, 22272264, 22673193, 23626784, 25460568, 28883453, 31487504, 35897813, 36517633
Lung Neoplasms	Stimulate	20689556
Lymphatic Diseases	Associate	25674256
Lymphatic Metastasis	Associate	18505078, 21104359, 21464926, 21854747, 23157797, 24288553, 24418088, 24719557, 25317801, 25528769, 26219899, 26819207, 28104986, 30197332, 33235117, 33817718, 33884652
Lymphatic Metastasis	Stimulate	20025748, 22441818, 24175775, 30021598, 30556860, 31876727
Lymphoma T Cell Cutaneous	Associate	33941102
Lymphoma T Cell Peripheral	Associate	32567520
Malignant mesenchymal tumor	Stimulate	16521229
Malignant mesenchymal tumor	Associate	22288519
Mast Cell Activation Disorders	Associate	37762215
Mastocytosis	Associate	37762215
Mastocytosis Systemic	Associate	37762215
Melanoma	Associate	23222305, 24870796, 25061102, 26321866, 30911007, 31171904, 32640040
Melanoma	Inhibit	29048639
Membranous Cranial Ossification Delayed	Associate	11342579
Meningeal Carcinomatosis	Associate	28193280, 30451796
Meningeal Neoplasms	Associate	23029385
Mesothelioma Malignant	Associate	23886156
Mesothelioma Malignant	Stimulate	30609805
Muenke Syndrome	Associate	30651579
Muscular Dystrophy Duchenne	Associate	36619896
Mycosis Fungoides	Associate	22515221, 33941102
Myelodysplastic Syndromes	Associate	20562331, 22983574, 37736724
Nasopharyngeal Carcinoma	Associate	25674256, 32264733
Neoplasm Invasiveness	Associate	30697731
Neoplasm Metastasis	Associate	15958559, 17318900, 17785550, 18442194, 18505078, 19051271, 20025748, 20534110, 20646316, 20689556, 21104359, 21461979, 21502402, 21559372, 21647815, 21731750, 21967632, 22006115, 22245869, 22457607, 22885155, 22967435, 23150175, 23222305, 23375009, 23613408, 23626784, 24091674, 24175775, 25031735, 25053741, 25759817, 26010887, 26667932, 26819207, 26975371, 27121312, 27225290, 27412325, 27438288, 27775799, 28112378, 28281966, 28283022, 28904175, 28975990, 29063902, 29299035, 29845265, 30021598, 30046595, 30265861, 30531836, 30674871, 31658326, 31935687, 32124963, 32461589, 33582945, 34173718, 34878954, 35599597, 36782089, 37495969, 37680145, 37862167
Neoplasm Metastasis	Stimulate	16822877, 17000670, 20219012, 24418088, 25674256, 28832071, 28901319, 33752711
Neoplasm Metastasis	Inhibit	22447278, 33605548
Neoplasms	Stimulate	15736421, 20491776, 21854747, 22272264, 28380418, 29795373, 30021598, 31545476, 38358184, 40340993
Neoplasms	Associate	17211477, 17318900, 17785550, 17786187, 17925286, 17967182, 18062917, 18353781, 18505078, 19615090, 20025748, 20689556, 20809941, 20924103, 21104359, 21284870, 21383541, 21461979, 21464926, 21559372, 21834956, 22050045, 22080244, 22439624, 22515221, 22570110, 22880157, 22891766, 23029385, 23150175, 23375009, 23613408, 23967308, 24091674, 24175775, 24577895, 25031735, 25061102, 25144746, 25189096, 25426550, 25528769, 25561797, 25578726, 25806852, 26023795, 26391953, 26501866, 26520789, 26764010, 26819207, 26832177, 26975371, 26983880, 27094683, 27105506, 27237323, 27438288, 27626172, 27661106, 27835599, 27930738, 28104986, 28222775, 28369327, 28415744, 28832071, 28835684, 28975990, 28982309, 29237910, 29299035, 29950484, 30046595, 30131448, 30197332, 30280764, 30674871, 30714578, 30733340, 30744493, 31001962, 31072421, 31487504, 31876727, 31915310, 32337580, 32467409, 33293482, 33298572, 33567682, 33582945, 33752711, 33772986, 33817718, 33884652, 33941102, 34408201, 34895039, 35331302, 35978404, 36140779, 36474162, 36553636, 36619896, 36654075, 36782089, 37207705, 37277751, 37680145, 37862167, 38409834
Neoplasms	Inhibit	20682973
Neoplasms Squamous Cell	Associate	36474162
Neurofibrosarcoma	Associate	37796695
Non Muscle Invasive Bladder Neoplasms	Stimulate	40340993
Obesity	Associate	26945992
Odontogenic Cyst Calcifying	Inhibit	24703637
Oral Submucous Fibrosis	Associate	32265096
Osteoarthritis	Associate	17900349, 20650323, 22820497, 30518918
Osteoarthritis Hip	Associate	22820497
Osteosarcoma	Associate	17786187, 24092570, 24468065, 38191892
Ovarian Neoplasms	Associate	23167357, 23621216, 24762435, 28415744, 28488542, 29952249, 30628686, 32205869, 33076245, 33920140, 33921111, 36123378
Pancreatic Carcinoma	Associate	30451796
Pancreatic Neoplasms	Stimulate	31584877
Pancreatic Neoplasms	Associate	31705846, 36764935
Pancreatitis Chronic	Associate	18766116
Papillomavirus Infections	Associate	23778524
Personality Disorders	Associate	28944917, 31658319, 32124963
Phyllodes Tumor	Stimulate	22203494
Phyllodes Tumor	Associate	23150175
Pre Eclampsia	Associate	34606403
Precancerous Conditions	Associate	34408201, 37175770
Prodromal Symptoms	Associate	31876727
Prostatic Neoplasms	Associate	15958559, 20976069, 22797064, 24418088, 27121312, 27237323, 28466252, 28832071, 30365107, 30754655, 31060254, 33605548, 34399719, 35163245, 35331302, 36418859, 37298233, 37434219
Pulmonary Disease Chronic Obstructive	Associate	28883453
Rubinstein Taybi Syndrome	Associate	20125191
Salivary Gland Adenoma Pleomorphic	Associate	26501866
Salivary Gland Neoplasms	Associate	26832177
Sarcoma	Associate	21983934
Scleroderma Systemic	Associate	26360820
Sezary Syndrome	Associate	22515221, 25806852, 26376612, 26930587
Sick Sinus Syndrome	Stimulate	22986510
Skin Diseases	Associate	26930587
Skin Neoplasms	Associate	31299087
Small Cell Lung Carcinoma	Stimulate	31842825
Solitary Fibrous Tumors	Associate	23029385
Spherocytosis Type 1	Associate	37922232
Squamous Cell Carcinoma of Head and Neck	Associate	18505078, 21559372, 22201613, 24805866, 26036622, 26214683, 30197332, 33542221, 33761659
ST Elevation Myocardial Infarction	Associate	27494404
Stomach Neoplasms	Associate	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
Stroke	Associate	31917787
Tertiary Lymphoid Structures	Stimulate	28112378, 28832071, 30714578
Thyroid Cancer Papillary	Associate	24288553, 30265861
Thyroid Carcinoma Anaplastic	Associate	21389145, 22899291
Thyroid Carcinoma Anaplastic	Stimulate	27661106, 38256193
Thyroid Neoplasms	Associate	22641097, 22899291, 27661106
Thyroiditis	Associate	21389145
Tourette Syndrome	Stimulate	25772244
Triple Negative Breast Neoplasms	Associate	25684485, 25759817, 31308076, 35802537, 36782089
Triple Negative Breast Neoplasms	Stimulate	34108545
Tuberculosis Multidrug Resistant	Associate	24805866
Urethral Neoplasms	Associate	21138866, 28106542, 40340993
Urinary Bladder Neoplasms	Associate	20809941, 23056278, 23613408, 24577895, 24856504, 28106542, 28893347, 29250666, 29854012, 37215997
Uterine Cervical Dysplasia	Stimulate	37175770
Uterine Cervical Neoplasms	Associate	17925286, 21284870, 22245869, 26057381, 29207526, 29899322, 30402835, 37175770
Uterine Cervicitis	Associate	26057381
Uveal melanoma	Associate	26321866
Vascular Diseases	Associate	31917787
Virus Diseases	Associate	33594223