SATB2 (SATB homeobox 2)

Gene

• Entrez ID: 23314
• Gene name: SATB homeobox 2
• Gene symbol: SATB2
• Synonyms (NCBI Gene): C2DELq32q33, DEL2Q32Q33, GLSS
• Chromosome: 2
• Chromosome location: 2q33.1
• Summary: This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cog

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853127	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs797044874	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs863224917	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs875989830	AC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs878853163	T>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs886039740	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886041516	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886041685	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs886041847	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant
rs1057518190	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057518496	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1057518614	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1057524205	T>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064793820	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1064793947	C>A	Pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1064794638	A>T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1064795247	A>C	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1064795530	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064795817	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064796649	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs1085308028	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1131691672	C>G	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1135401803	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1357010510	A>G,T	Pathogenic	Upstream transcript variant, non coding transcript variant, stop gained, synonymous variant, coding sequence variant, genic upstream transcript variant
rs1391758713	G>A,T	Pathogenic	Stop gained, genic downstream transcript variant, missense variant, coding sequence variant
rs1424984467	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs1553493553	C>T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553496051	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553496358	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant, genic downstream transcript variant
rs1553496413	C>-	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1553504273	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs1553507389	->T	Not-provided, pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553507391	T>C	Likely-pathogenic	Missense variant, initiator codon variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553538888	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553538917	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553538919	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553544102	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553544133	TC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553544158	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553544187	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553546975	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553547055	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553547838	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553547885	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553547906	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553551647	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553551705	GT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558995207	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1559016679	C>T	Pathogenic-likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1559052017	A>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1559052032	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs1559052053	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs1559135904	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs1559136015	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1559136052	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1559136245	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1559164234	->CCTC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1559164403	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1559174813	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1559174854	A>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1559175170	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1574459072	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1574492395	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1574510975	GCTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1574532220	GACT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1574532452	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1574554519	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1574566833	->A	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1574566973	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1574645299	C>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1574645416	C>-	Likely-pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006567	hsa-miR-31-5p	Luciferase reporter assay	20980827
MIRT006567	hsa-miR-31-5p	Luciferase reporter assay	20980827
MIRT025532	hsa-miR-34a-5p	Sequencing	20371350
MIRT026761	hsa-miR-192-5p	Microarray	19074876
MIRT045505	hsa-miR-149-5p	CLASH	23622248
MIRT044745	hsa-miR-320a	CLASH	23622248
MIRT037950	hsa-miR-505-5p	CLASH	23622248
MIRT036228	hsa-miR-320b	CLASH	23622248
MIRT006567	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	24565840
MIRT006567	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	24565840
MIRT006567	hsa-miR-31-5p	In situ hybridization, Luciferase reporter assay, Western blot	24386467
MIRT006567	hsa-miR-31-5p	In situ hybridization, Luciferase reporter assay, Western blot	24386467
MIRT006567	hsa-miR-31-5p	In situ hybridization, Luciferase reporter assay, Western blot	24386467
MIRT006567	hsa-miR-31-5p	In situ hybridization, Luciferase reporter assay, Western blot	24386467
MIRT006567	hsa-miR-31-5p	In situ hybridization, Luciferase reporter assay, Western blot	24386467
MIRT006567	hsa-miR-31-5p	In situ hybridization, Luciferase reporter assay, Western blot	24386467
MIRT006567	hsa-miR-31-5p	In situ hybridization, Luciferase reporter assay, Western blot	24386467
MIRT006567	hsa-miR-31-5p	In situ hybridization, Luciferase reporter assay, Western blot	24386467
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT254476	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT086564	hsa-miR-5096	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT254476	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT616197	hsa-miR-508-3p	HITS-CLIP	23824327
MIRT616196	hsa-miR-219a-5p	HITS-CLIP	23824327
MIRT616195	hsa-miR-4782-3p	HITS-CLIP	23824327
MIRT616194	hsa-miR-6766-3p	HITS-CLIP	23824327
MIRT616193	hsa-miR-4445-5p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT086564	hsa-miR-5096	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT254476	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT254476	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT616197	hsa-miR-508-3p	HITS-CLIP	23824327
MIRT616196	hsa-miR-219a-5p	HITS-CLIP	23824327
MIRT616195	hsa-miR-4782-3p	HITS-CLIP	23824327
MIRT616194	hsa-miR-6766-3p	HITS-CLIP	23824327
MIRT616193	hsa-miR-4445-5p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT086564	hsa-miR-5096	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT546568	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT546567	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT546566	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT546565	hsa-miR-3666	PAR-CLIP	21572407
MIRT546564	hsa-miR-4295	PAR-CLIP	21572407
MIRT546563	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT546562	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT546561	hsa-miR-3714	PAR-CLIP	21572407
MIRT546560	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT546559	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT546558	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT546557	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT546556	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT546555	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT546554	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT546553	hsa-miR-302e	PAR-CLIP	21572407
MIRT546552	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT546551	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT546550	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT546549	hsa-miR-520b	PAR-CLIP	21572407
MIRT546548	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT546547	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT546546	hsa-miR-520e	PAR-CLIP	21572407
MIRT554422	hsa-miR-5007-5p	PAR-CLIP	21572407
MIRT546545	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT546544	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT554420	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT554421	hsa-miR-1976	PAR-CLIP	21572407
MIRT546543	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT546541	hsa-miR-4493	PAR-CLIP	21572407
MIRT546542	hsa-miR-4708-3p	PAR-CLIP	21572407
MIRT546540	hsa-miR-1468-5p	PAR-CLIP	21572407
MIRT546539	hsa-miR-6126	PAR-CLIP	21572407
MIRT546568	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT546567	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT546566	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT546565	hsa-miR-3666	PAR-CLIP	21572407
MIRT546564	hsa-miR-4295	PAR-CLIP	21572407
MIRT546563	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT546562	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT546561	hsa-miR-3714	PAR-CLIP	21572407
MIRT546560	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT546559	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT546558	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT546557	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT546556	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT546555	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT546554	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT546553	hsa-miR-302e	PAR-CLIP	21572407
MIRT546552	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT546551	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT546550	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT546549	hsa-miR-520b	PAR-CLIP	21572407
MIRT546548	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT546547	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT546546	hsa-miR-520e	PAR-CLIP	21572407
MIRT546545	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT546544	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT546543	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT546541	hsa-miR-4493	PAR-CLIP	21572407
MIRT546542	hsa-miR-4708-3p	PAR-CLIP	21572407
MIRT546540	hsa-miR-1468-5p	PAR-CLIP	21572407
MIRT546539	hsa-miR-6126	PAR-CLIP	21572407
MIRT006567	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT505779	hsa-miR-449a	PAR-CLIP	21572407
MIRT025532	hsa-miR-34a-5p	PAR-CLIP	21572407
MIRT505778	hsa-miR-34c-5p	PAR-CLIP	21572407
MIRT505777	hsa-miR-449b-5p	PAR-CLIP	21572407
MIRT505776	hsa-miR-548an	PAR-CLIP	21572407
MIRT505775	hsa-miR-4696	PAR-CLIP	21572407
MIRT505774	hsa-miR-548au-3p	PAR-CLIP	21572407
MIRT505773	hsa-miR-7150	PAR-CLIP	21572407
MIRT006567	hsa-miR-31-5p	PAR-CLIP	23446348
MIRT505779	hsa-miR-449a	PAR-CLIP	23446348
MIRT025532	hsa-miR-34a-5p	PAR-CLIP	23446348
MIRT505778	hsa-miR-34c-5p	PAR-CLIP	23446348
MIRT505777	hsa-miR-449b-5p	PAR-CLIP	23446348
MIRT505776	hsa-miR-548an	PAR-CLIP	23446348
MIRT505775	hsa-miR-4696	PAR-CLIP	23446348
MIRT505774	hsa-miR-548au-3p	PAR-CLIP	23446348
MIRT505773	hsa-miR-7150	PAR-CLIP	23446348
MIRT439707	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439707	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT006567	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	27593563
MIRT006567	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	27593563
MIRT733654	hsa-miR-541-3p	ELISA, Immunoprecipitaion (IP)	34019815
MIRT733655	hsa-miR-92a-3p	ELISA, Immunoprecipitaion (IP)	34019815
MIRT733656	hsa-miR-92b-3p	ELISA, Immunoprecipitaion (IP)	34019815
MIRT006567	hsa-miR-31-5p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	34074322
MIRT505779	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, In situ hybridization	33787491
MIRT737359	hsa-miR-4270	Luciferase reporter assay, RNA-seq, qRT-PCR	32504285
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT254476	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT086564	hsa-miR-5096	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT254476	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT616197	hsa-miR-508-3p	HITS-CLIP	23824327
MIRT616196	hsa-miR-219a-5p	HITS-CLIP	23824327
MIRT616195	hsa-miR-4782-3p	HITS-CLIP	23824327
MIRT616194	hsa-miR-6766-3p	HITS-CLIP	23824327
MIRT616193	hsa-miR-4445-5p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT086564	hsa-miR-5096	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT254476	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT254476	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT616197	hsa-miR-508-3p	HITS-CLIP	23824327
MIRT616196	hsa-miR-219a-5p	HITS-CLIP	23824327
MIRT616195	hsa-miR-4782-3p	HITS-CLIP	23824327
MIRT616194	hsa-miR-6766-3p	HITS-CLIP	23824327
MIRT616193	hsa-miR-4445-5p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT086564	hsa-miR-5096	HITS-CLIP	23824327
MIRT025532	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT505777	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT505779	hsa-miR-449a	HITS-CLIP	23824327
MIRT505778	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT614784	hsa-miR-6733-3p	HITS-CLIP	23824327
MIRT614783	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT546568	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT546567	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT546566	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT546565	hsa-miR-3666	PAR-CLIP	21572407
MIRT546564	hsa-miR-4295	PAR-CLIP	21572407
MIRT546563	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT546562	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT546561	hsa-miR-3714	PAR-CLIP	21572407
MIRT546560	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT546559	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT546558	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT546557	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT546556	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT546555	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT546554	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT546553	hsa-miR-302e	PAR-CLIP	21572407
MIRT546552	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT546551	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT546550	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT546549	hsa-miR-520b	PAR-CLIP	21572407
MIRT546548	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT546547	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT546546	hsa-miR-520e	PAR-CLIP	21572407
MIRT554422	hsa-miR-5007-5p	PAR-CLIP	21572407
MIRT546545	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT546544	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT554420	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT554421	hsa-miR-1976	PAR-CLIP	21572407
MIRT546543	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT546541	hsa-miR-4493	PAR-CLIP	21572407
MIRT546542	hsa-miR-4708-3p	PAR-CLIP	21572407
MIRT546540	hsa-miR-1468-5p	PAR-CLIP	21572407
MIRT546539	hsa-miR-6126	PAR-CLIP	21572407
MIRT546568	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT546567	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT546566	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT546565	hsa-miR-3666	PAR-CLIP	21572407
MIRT546564	hsa-miR-4295	PAR-CLIP	21572407
MIRT546563	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT546562	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT546561	hsa-miR-3714	PAR-CLIP	21572407
MIRT546560	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT546559	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT546558	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT546557	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT546556	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT546555	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT546554	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT546553	hsa-miR-302e	PAR-CLIP	21572407
MIRT546552	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT546551	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT546550	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT546549	hsa-miR-520b	PAR-CLIP	21572407
MIRT546548	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT546547	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT546546	hsa-miR-520e	PAR-CLIP	21572407
MIRT546545	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT546544	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT546543	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT546541	hsa-miR-4493	PAR-CLIP	21572407
MIRT546542	hsa-miR-4708-3p	PAR-CLIP	21572407
MIRT546540	hsa-miR-1468-5p	PAR-CLIP	21572407
MIRT546539	hsa-miR-6126	PAR-CLIP	21572407
MIRT006567	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT505779	hsa-miR-449a	PAR-CLIP	21572407
MIRT025532	hsa-miR-34a-5p	PAR-CLIP	21572407
MIRT505778	hsa-miR-34c-5p	PAR-CLIP	21572407
MIRT505777	hsa-miR-449b-5p	PAR-CLIP	21572407
MIRT505776	hsa-miR-548an	PAR-CLIP	21572407
MIRT505775	hsa-miR-4696	PAR-CLIP	21572407
MIRT505774	hsa-miR-548au-3p	PAR-CLIP	21572407
MIRT505773	hsa-miR-7150	PAR-CLIP	21572407
MIRT006567	hsa-miR-31-5p	PAR-CLIP	23446348
MIRT505779	hsa-miR-449a	PAR-CLIP	23446348
MIRT025532	hsa-miR-34a-5p	PAR-CLIP	23446348
MIRT505778	hsa-miR-34c-5p	PAR-CLIP	23446348
MIRT505777	hsa-miR-449b-5p	PAR-CLIP	23446348
MIRT505776	hsa-miR-548an	PAR-CLIP	23446348
MIRT505775	hsa-miR-4696	PAR-CLIP	23446348
MIRT505774	hsa-miR-548au-3p	PAR-CLIP	23446348
MIRT505773	hsa-miR-7150	PAR-CLIP	23446348
MIRT756225	hsa-miR-187-3p	Luciferase reporter assay, qRT-PCR	36517907
MIRT1326613	hsa-miR-3168	CLIP-seq
MIRT1326614	hsa-miR-4310	CLIP-seq
MIRT1326615	hsa-miR-1246	CLIP-seq
MIRT1326616	hsa-miR-1254	CLIP-seq
MIRT1326617	hsa-miR-1294	CLIP-seq
MIRT1326618	hsa-miR-1910	CLIP-seq
MIRT1326619	hsa-miR-23a	CLIP-seq
MIRT1326620	hsa-miR-23b	CLIP-seq
MIRT1326621	hsa-miR-23c	CLIP-seq
MIRT1326622	hsa-miR-3116	CLIP-seq
MIRT1326623	hsa-miR-3140-5p	CLIP-seq
MIRT1326624	hsa-miR-3199	CLIP-seq
MIRT1326625	hsa-miR-409-3p	CLIP-seq
MIRT1326626	hsa-miR-4254	CLIP-seq
MIRT1326627	hsa-miR-4307	CLIP-seq
MIRT1326628	hsa-miR-4316	CLIP-seq
MIRT1326629	hsa-miR-4422	CLIP-seq
MIRT1326630	hsa-miR-4435	CLIP-seq
MIRT1326631	hsa-miR-452	CLIP-seq
MIRT1326632	hsa-miR-4633-3p	CLIP-seq
MIRT1326633	hsa-miR-4676-3p	CLIP-seq
MIRT1326634	hsa-miR-4717-5p	CLIP-seq
MIRT1326635	hsa-miR-4724-5p	CLIP-seq
MIRT1326636	hsa-miR-490-5p	CLIP-seq
MIRT1326637	hsa-miR-558	CLIP-seq
MIRT1326638	hsa-miR-582-3p	CLIP-seq
MIRT1326639	hsa-miR-661	CLIP-seq
MIRT2096997	hsa-miR-3613-3p	CLIP-seq
MIRT2096998	hsa-miR-561	CLIP-seq
MIRT2096997	hsa-miR-3613-3p	CLIP-seq
MIRT1326617	hsa-miR-1294	CLIP-seq
MIRT1326618	hsa-miR-1910	CLIP-seq
MIRT1326623	hsa-miR-3140-5p	CLIP-seq
MIRT2394049	hsa-miR-4279	CLIP-seq
MIRT1326628	hsa-miR-4316	CLIP-seq
MIRT1326634	hsa-miR-4717-5p	CLIP-seq
MIRT2617561	hsa-miR-1	CLIP-seq
MIRT2617562	hsa-miR-140-3p	CLIP-seq
MIRT2617563	hsa-miR-196a	CLIP-seq
MIRT2617564	hsa-miR-196b	CLIP-seq
MIRT2617565	hsa-miR-2054	CLIP-seq
MIRT2617566	hsa-miR-206	CLIP-seq
MIRT2617567	hsa-miR-31	CLIP-seq
MIRT2617568	hsa-miR-3121-3p	CLIP-seq
MIRT2617569	hsa-miR-3126-3p	CLIP-seq
MIRT2617570	hsa-miR-3128	CLIP-seq
MIRT2617571	hsa-miR-3156-5p	CLIP-seq
MIRT2617572	hsa-miR-331-5p	CLIP-seq
MIRT2617573	hsa-miR-33a	CLIP-seq
MIRT2617574	hsa-miR-33b	CLIP-seq
MIRT2617575	hsa-miR-34a	CLIP-seq
MIRT2617576	hsa-miR-3647-3p	CLIP-seq
MIRT2617577	hsa-miR-365	CLIP-seq
MIRT2617578	hsa-miR-3662	CLIP-seq
MIRT2617579	hsa-miR-3673	CLIP-seq
MIRT2617580	hsa-miR-3927	CLIP-seq
MIRT2617581	hsa-miR-4438	CLIP-seq
MIRT2617582	hsa-miR-449b	CLIP-seq
MIRT2617583	hsa-miR-4528	CLIP-seq
MIRT2617584	hsa-miR-4720-5p	CLIP-seq
MIRT2617585	hsa-miR-4775	CLIP-seq
MIRT2617586	hsa-miR-4799-3p	CLIP-seq
MIRT2617587	hsa-miR-586	CLIP-seq
MIRT2617588	hsa-miR-590-3p	CLIP-seq
MIRT2617589	hsa-miR-613	CLIP-seq
MIRT2617562	hsa-miR-140-3p	CLIP-seq
MIRT2617565	hsa-miR-2054	CLIP-seq
MIRT2617567	hsa-miR-31	CLIP-seq
MIRT2617568	hsa-miR-3121-3p	CLIP-seq
MIRT2617569	hsa-miR-3126-3p	CLIP-seq
MIRT2617570	hsa-miR-3128	CLIP-seq
MIRT2617571	hsa-miR-3156-5p	CLIP-seq
MIRT2617573	hsa-miR-33a	CLIP-seq
MIRT2617574	hsa-miR-33b	CLIP-seq
MIRT2617581	hsa-miR-4438	CLIP-seq
MIRT2617584	hsa-miR-4720-5p	CLIP-seq
MIRT2617586	hsa-miR-4799-3p	CLIP-seq
MIRT2617587	hsa-miR-586	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	22825848
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	22825848
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	20829881, 25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0042826	Function	Histone deacetylase binding	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22825848
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060021	Process	Roof of mouth development	IEA

Other IDs

• MIM: 608148
• HGNC: 21637
• e!Ensembl: ENSG00000119042

Protein

• UniProt ID: Q9UPW6
• Protein name: DNA-binding protein SATB2 (Special AT-rich sequence-binding protein 2)
• Protein function: Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs)
• PDB: 1WI3, 1WIZ, 2CSF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16534	ULD	58 → 156	Ubiquitin-like oligomerisation domain of SATB	Domain
  PF16557	CUTL	162 → 233	CUT1-like DNA-binding domain of SATB	Domain
  PF02376	CUT	355 → 434	CUT domain	Domain
  PF02376	CUT	478 → 557	CUT domain	Domain
  PF00046	Homeodomain	615 → 672	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: High expression in adult brain, moderate expression in fetal brain, and weak expression in adult liver, kidney, and spinal cord and in select brain regions, including amygdala, corpus callosum, caudate nucleus, and hippocampus. {ECO:00
• Sequence:

  MERRSESPCLRDSPDRRSGSPDVKGPPPVKVARLEQNGSPMGARGRPNGAVAKAVGGLMI
  PVFCVVEQLDGSLEYDNREEHAEFVLVRKDVLFSQLVETALLALGYSHSSAAQAQGIIKL
  GRWNPLPLSYVTDAPDATVADMLQDVYHVVTLKIQLQSCSKLEDLPAEQWNHATVRNALK
  ELLKEMNQSTLAKECPLSQSMISSIVNSTYYANVSATKCQEFGRWYKKYKKIKVERVERE
  NLSDYCVLGQRPMHLPNMNQLASLGKTNEQSPHSQIHHSTPIRNQVPALQPIMSPGLLSP
  QLSPQLVRQQIAMAHLINQQIAVSRLLAHQHPQAINQQFLNHPPIPRAVKPEPTNSSVEV
  SPDIYQQVRDELKRASVSQAVFARVAFNRTQGLLSEILRKEEDPRTASQSLLVNLRAMQN
  FLNLPEVERDRIYQDERERSMNPNVSMVSSASSSPSSSRTPQAKTSTPTTDLPIKVDGAN
  INITAAIYDEIQQEMKRAKVSQALFAKVAANKSQGWLCELLRWKENPSPENRTLWENLCT
  IRRFLNLPQHERDVIYEEESRHHHSERMQHVVQLPPEPVQVLHRQQSQPAKESSPPREEA
  PPPPPPTEDSCAKKPRSRTKISLEALGILQSFIHDVGLYPDQEAIHTLSAQLDLPKHTII
  KFFQNQRYHVKHHGKLKEHLGSAVDVAEYKDEELLTESEENDSEEGSEEMYKVEAEEENA
  DKSKAAPAEIDQR

• Sequence length: 733

Pathways

Reactome:

SUMOylation of chromatin organization proteins

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
Autism spectrum disorder	Likely pathogenic	rs1692190479	RCV001291383	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Pathogenic	rs2105707111	RCV001526525	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromosome 2q32-q33 deletion syndrome	Likely pathogenic; Pathogenic	rs1688103803, rs1688726794, rs2105822776, rs2105795469, rs1223371144, rs2105822848, rs2105957137, rs2105768966, rs2105769270, rs1688108689, rs1559052017, rs2105928888, rs2105865785, rs2105865877, rs2105928782, rs1247886882, rs2105850080, rs2468928472, rs137853127, rs2468897377, rs2468868436, rs2469033918, rs2469069672, rs2468928629, rs2468928578, rs1399958038, rs2468896714, rs2468896539, rs2468839144, rs2468868479, rs797044874, rs2468868422, rs863224917, rs2105928778, rs2468839281, rs875989830, rs878853163, rs2468868385, rs2468861021, rs2468896854, rs2468928533, rs886041847, rs886041516, rs2468948604, rs2468839305, rs1689783166, rs2468782963, rs2468868528, rs2469069712, rs2468928471, rs2468896918, rs2468783987, rs2468897254, rs1131691672, rs2469034343, rs2468896711, rs1574645416, rs2468860840, rs2468897040, rs2468896696, rs2469080713, rs2468783969, rs2468783233, rs1057518190, rs1057521083, rs1064795530, rs1135401803, rs1553538919, rs1553544158, rs1553551705, rs1553547838, rs1553544187, rs746319722, rs1559052032, rs1559016679, rs1559136245, rs1559175170, rs1574511051, rs1391758713, rs1574459072, rs1574510975, rs1574492395, rs1574532452, rs1574566973, rs1574532220, rs1574566833, rs1357010510, rs1692186575, rs1688108235, rs1692192971, rs1688736712, rs1688101934, rs1330378388, rs1687958384, rs1688103993, rs1688740919	RCV001334830 RCV001334829 RCV001375953 RCV001542466 RCV003120634 RCV001754576 RCV001775295 RCV001784934 RCV005603736 RCV001843742 RCV002000226 RCV001994824 RCV001922874 RCV001882983 RCV001953620 RCV002052116 RCV002052239 RCV002289223 RCV000002627 RCV004785737 RCV002505915 RCV002505916 RCV002505918 RCV002505919 RCV002505920 RCV002505921 RCV002505922 RCV002505923 RCV002505924 RCV002651587 RCV000686152 RCV002904433 RCV000199456 RCV000202349 RCV003014695 RCV000209866 RCV000224980 RCV003149144 RCV003326674 RCV003152956 RCV003224963 RCV000763469 RCV000708556 RCV003229518 RCV003233436 RCV003317025 RCV003322652 RCV003326198 RCV003333464 RCV003741349 RCV003457218 RCV003489419 RCV003741664 RCV003741835 RCV003741870 RCV003742050 RCV003742195 RCV003742375 RCV003883377 RCV003988174 RCV003990136 RCV004556990 RCV004595235 RCV000824998 RCV000656508 RCV000656509 RCV000496200 RCV000502290 RCV000533352 RCV004798848 RCV000680089 RCV000656510 RCV005410913 RCV000695069 RCV000760227 RCV006449278 RCV005628272 RCV000820157 RCV000813421 RCV000824685 RCV000825003 RCV000851499 RCV000986969 RCV000986970 RCV000995630 RCV000995631 RCV000995632 RCV001029964 RCV001042546 RCV001052478 RCV001196840 RCV001196457 RCV001231584 RCV001249707 RCV001249683 RCV001249671 RCV001253197 RCV001310250	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cleft palate	Pathogenic	rs137853127	RCV001261363	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Pathogenic	rs1247886882	RCV003128062	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder	Pathogenic	rs1553547838	RCV001003958	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs137853127, rs1553547838, rs1574554519, rs1574511051, rs1692195674, rs1687511465, rs1687515795, rs1687957552	RCV001257620 RCV001003958 RCV000850203 RCV001257668 RCV001257667 RCV001257665 RCV001257669 RCV001257666	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated cleft palate	Pathogenic	rs1553547838	RCV000625170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs886041847	RCV005243179	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1553547838	RCV003389057	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SATB2 associated disorder	Pathogenic; Likely pathogenic	rs2468945715, rs797044874, rs1057521083, rs1574511051	RCV002472061 RCV002272168 RCV002470857 RCV005623372	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SATB2-related disorder	Pathogenic; Likely pathogenic	rs137853127, rs797044874, rs2468839281, rs2468928471, rs1085308028, rs2468783579, rs2468949035, rs1553507389	RCV004724726 RCV004528974 RCV004536531 RCV004527897 RCV004534218 RCV004542658 RCV004545486 RCV000709933	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE, ISOLATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLINODACTYLY OF THE 5TH FINGER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLASS SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
intellectual deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGNATHISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SATB2-associated syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SATB2-ASSOCIATED SYNDROME DUE TO A CHROMOSOMAL REARRANGEMENT	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SATB2-ASSOCIATED SYNDROME DUE TO A PATHOGENIC VARIANT	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SATB2-ASSOCIATED SYNDROME DUE TO A POINT MUTATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2q32q33 microdeletion syndrome	2q32-q33 Deletion Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
2q32q33 microdeletion syndrome	2q32-q33 Deletion Syndrome	BEFREE	19668335		★☆☆☆☆ Found in Text Mining only
2q33.1 microdeletion syndrome	2q33.1 microdeletion syndrome	ORPHANET_DG	19668335, 21343628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28711650, 28914716, 28968158, 28969003, 29243296, 29396302, 29924451, 30001238, 30061246, 30710095, 31101576, 31318711		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	31101576		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	28968158, 28969003, 29924451, 30710095, 31133441		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	31318711		★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	28340228		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	27472393, 28167342		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	25118029	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	23232804		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	30013183	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36633253	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	29317598	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24290386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	30040823		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	27409069	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27593563, 28167342, 28667416, 29271791, 30212392		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28167342	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	BEFREE	19668335, 21343628, 25885067		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	34224081	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25755730, 27186882, 28887549, 33173968	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid, Goblet Cell	Carcinoma	BEFREE	28914716		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28968158, 30212392, 30710095, 31233624, 31318711, 31595536, 31663131		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	30924313	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30627547, 31602781, 35152538	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	24437456	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	30349028, 31233624, 35917493, 38066198	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	25662172		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28667416, 29196257, 29603397		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26097552, 35917493	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	30349028, 31233624, 31584482		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	27294605		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	35076175	Associate	★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	30098026		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	27294605		★☆☆☆☆ Found in Text Mining only
Chromosome 2q32-Q33 Deletion Syndrome	2q32-q33 Deletion Syndrome	ORPHANET_DG	16179223		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chromosome 2q32-Q33 Deletion Syndrome	2q32-q33 Deletion Syndrome	GENOMICS_ENGLAND_DG	16179223		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chromosome 2q32-Q33 Deletion Syndrome	2q32-q33 Deletion Syndrome	CLINVAR_DG	17377962, 24301056, 25356970, 25885067, 28151491		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chromosome 2q32-Q33 Deletion Syndrome	2q32-q33 Deletion Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	27428733		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	16327884	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	16327884, 19668335, 21343628, 24301056, 27409069, 40225157, 40474278	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of toe	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30710095		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	30710095	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	33173968, 35058554	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26701851, 30962505, 31101576		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24437456, 26261600, 30962505, 35917493	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	30710095	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19557828, 22935204, 24386467, 24884732, 24971456, 25543122, 25662172, 26701851, 27784965, 28887549, 29271791, 29396302, 29471325, 29701273, 29924451, 30001238, 30212392, 30320357, 30710095, 30858153, 31101576, 31318711		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	30510241		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22333599, 24437456, 25323550, 28887549, 29396302, 30320357, 30962505, 31769323, 35917493, 36351995, 39333321, 39506287	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27784965, 29701273, 40076993	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	30510241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of face	Facial dysmorphism	BEFREE	24301056		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17377962		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26097552, 29374710		★☆☆☆☆ Found in Text Mining only
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	Toriello-Carey syndrome	BEFREE	19170718		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35058554	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23232804		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	19668335, 21343628, 24301056, 40225157	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	29566115	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	40474278	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10417281, 12915443, 16751105, 16960803, 17377962, 19576302, 19668335, 23849776, 23925499, 24301056, 24363063, 24896178, 25106414, 25885067, 27409069, 27668656, 28139846, 28151491, 28170089, 28211976, 2918541		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20980827		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	31239549		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29750936		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31957018	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	31233624		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25755730	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	25723116		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	24301056, 40474278	Associate	★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	BEFREE	23701429		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	31233624	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27774744, 30040823		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypodontia	Hypodontia	BEFREE	25118029		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17377962		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30710095, 31318711		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24301056, 24906019, 25118029, 25251319, 25885067, 27774744, 28151491, 30040823, 30848049		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	24301056, 25118029, 27409069, 28151491, 40474278	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	24437456	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	40225157, 40474278	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	22815795, 26701851		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25888635, 30627547, 31602781		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29603397, 34925645	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30710095	Associate	★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	BEFREE	30848049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27593563, 28167342, 28667416		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	20980827		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	25662172		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28667416, 29196257, 29603397		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27472393		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26508023		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22935204, 25543122, 25662172, 25723116, 27472393, 28167342, 28667416, 28968158, 29131265, 29761897, 30413763, 30916759, 31325654		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26701851, 30962505, 31101576		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	39506287	Associate	★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	30349028, 31233624, 31584482		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10417281, 12915443, 16751105, 16960803, 17377962, 19576302, 19668335, 23849776, 23925499, 24301056, 24363063, 24896178, 25106414, 25885067, 27409069, 27668656, 28139846, 28151491, 28170089, 28211976, 2918541		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	28968158, 29487003		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10417281, 12915443, 16751105, 16960803, 17377962, 19576302, 19668335, 23849776, 23925499, 24301056, 24363063, 24896178, 25106414, 25885067, 27409069, 27668656, 28139846, 28151491, 28170089, 28211976, 2918541		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22815795, 22935204, 25220418, 25662172, 26097552, 26508023, 26701851, 27294605, 27393518, 27428733, 27472393, 28667416, 28914716, 28968158, 29131265, 29254139, 29271791, 29374710, 30962505, 31101576, 31233624, 31239549, 31318711, 31595536, 31663131		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28151491	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25966365, 26194112, 31021519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	31133441, 31233624, 31595536		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27393518, 28167280, 28667416		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	36430334	Associate	★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26561393	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	25885067, 29030963, 29435145		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27409069, 29030963		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	27409069, 35769281, 37654220, 40474278	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23701429, 24921641, 25220418, 27294605, 28221217, 28667416, 29131265, 31284872		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29318761, 31850493, 35917493	Associate	★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical syndrome	Pubtator	26561393	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian mucinous tumor	Ovarian mucinous tumor	BEFREE	28340228, 29487003		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30924313, 31239549	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27472393		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25323550	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31539139		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	BEFREE	31680852		★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	24363063		★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	BEFREE	29369390		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30198149		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37466093	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	27294605		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23232804		★☆☆☆☆ Found in Text Mining only
SATB2-associated syndrome due to a chromosomal rearrangement	SATB2 Associated Disorder	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SATB2-associated syndrome due to a pathogenic variant	SATB2 Associated Disorder	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	25056061, 26198764, 28991256, 30285260, 31268507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30040823, 30726206, 31162297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	31176952, 35058554	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Scoliosis	Pubtator	27409069	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	27409069		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	31769323		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	28421537		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31420882		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941189		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	23701429		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	28614212		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	25251319		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28667416		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25755730		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20829881	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20829881		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26508023		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26508023	Inhibit	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	19668335	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	21343628		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27593563		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	30962505	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	17377962, 19576302, 21343628, 21965674, 24301056, 26596517, 27409069, 30511632, 30848049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28711650		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	31728810		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	29566115	Associate	★☆☆☆☆ Found in Text Mining only