SALL1 (spalt like transcription factor 1)

Gene

• Entrez ID: 6299
• Gene name: Spalt like transcription factor 1
• Gene symbol: SALL1
• Synonyms (NCBI Gene): HEL-S-89, HSAL1, Sal-1, TBS, ZNF794
• Chromosome: 16
• Chromosome location: 16q12.1
• Summary: The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894535	G>C,T	Pathogenic	Coding sequence variant, stop gained
rs104894537	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs104894538	G>A	Pathogenic	Coding sequence variant, stop gained
rs113614842	GCTGCTGCTGCTGCT>-,GCT,GCTGCT,GCTGCTGCT,GCTGCTGCTGCT,GCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCTGCTGCT	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign	Inframe deletion, coding sequence variant, inframe insertion
rs137853084	A>T	Pathogenic	Coding sequence variant, stop gained
rs780221020	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs864321635	G>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs864621971	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs886041236	->GA	Pathogenic	Frameshift variant, coding sequence variant
rs886042011	->TTGCAAA	Pathogenic	Frameshift variant, coding sequence variant
rs886044708	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057518131	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057518232	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1057518273	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064793257	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796960	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307143	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555475106	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555475120	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555475275	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555475319	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555475334	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555475342	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567316325	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1597228188	AGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597228490	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597228550	CACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597228568	->ATCC	Pathogenic	Coding sequence variant, frameshift variant
rs1597229025	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1597229151	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597229404	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1597229721	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230241	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230288	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230341	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230349	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230687	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597230909	GC>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027034	hsa-miR-103a-3p	Sequencing	20371350
MIRT029033	hsa-miR-26b-5p	Microarray	19088304
MIRT031523	hsa-miR-16-5p	Sequencing	20371350
MIRT051534	hsa-let-7e-5p	CLASH	23622248
MIRT044785	hsa-miR-320a	CLASH	23622248
MIRT038173	hsa-miR-423-5p	CLASH	23622248
MIRT037498	hsa-miR-744-5p	CLASH	23622248
MIRT622377	hsa-miR-548ac	HITS-CLIP	23824327
MIRT622376	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT622375	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT622374	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT622373	hsa-miR-548z	HITS-CLIP	23824327
MIRT622372	hsa-miR-548aa	HITS-CLIP	23824327
MIRT622371	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT622370	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT622380	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT622379	hsa-miR-1208	HITS-CLIP	23824327
MIRT622378	hsa-miR-622	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT622377	hsa-miR-548ac	HITS-CLIP	23824327
MIRT622376	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT622375	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT622374	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT622373	hsa-miR-548z	HITS-CLIP	23824327
MIRT622372	hsa-miR-548aa	HITS-CLIP	23824327
MIRT622371	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT622370	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT546613	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT546612	hsa-miR-107	PAR-CLIP	20371350
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546610	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546609	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT031523	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546606	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546605	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	20371350
MIRT546603	hsa-miR-646	PAR-CLIP	20371350
MIRT546601	hsa-miR-4310	PAR-CLIP	20371350
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	20371350
MIRT546600	hsa-miR-4289	PAR-CLIP	20371350
MIRT284250	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT546599	hsa-miR-4530	PAR-CLIP	20371350
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT546594	hsa-miR-3611	PAR-CLIP	20371350
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT565936	hsa-miR-7159-3p	PAR-CLIP	20371350
MIRT565935	hsa-miR-4482-3p	PAR-CLIP	20371350
MIRT546613	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT546612	hsa-miR-107	PAR-CLIP	20371350
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546610	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546609	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT031523	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546606	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546605	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	20371350
MIRT546603	hsa-miR-646	PAR-CLIP	20371350
MIRT546601	hsa-miR-4310	PAR-CLIP	20371350
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	20371350
MIRT546600	hsa-miR-4289	PAR-CLIP	20371350
MIRT546599	hsa-miR-4530	PAR-CLIP	20371350
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT546594	hsa-miR-3611	PAR-CLIP	20371350
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT546613	hsa-miR-338-3p	PAR-CLIP	21572407
MIRT546612	hsa-miR-107	PAR-CLIP	21572407
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT546610	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT546609	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT031523	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT546606	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT546605	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT546603	hsa-miR-646	PAR-CLIP	21572407
MIRT546601	hsa-miR-4310	PAR-CLIP	21572407
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT546600	hsa-miR-4289	PAR-CLIP	21572407
MIRT546599	hsa-miR-4530	PAR-CLIP	21572407
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT546594	hsa-miR-3611	PAR-CLIP	21572407
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT534537	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT534536	hsa-miR-21-3p	PAR-CLIP	22012620
MIRT534535	hsa-miR-3591-3p	PAR-CLIP	22012620
MIRT534534	hsa-miR-10b-3p	PAR-CLIP	22012620
MIRT534533	hsa-miR-4649-3p	PAR-CLIP	22012620
MIRT534532	hsa-miR-1827	PAR-CLIP	22012620
MIRT534531	hsa-miR-7112-3p	PAR-CLIP	22012620
MIRT534530	hsa-miR-4711-5p	PAR-CLIP	22012620
MIRT534529	hsa-miR-1256	PAR-CLIP	22012620
MIRT534528	hsa-miR-5007-3p	PAR-CLIP	22012620
MIRT622377	hsa-miR-548ac	HITS-CLIP	23824327
MIRT622376	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT622375	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT622374	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT622373	hsa-miR-548z	HITS-CLIP	23824327
MIRT622372	hsa-miR-548aa	HITS-CLIP	23824327
MIRT622371	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT622370	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT622380	hsa-miR-548b-3p	HITS-CLIP	23824327
MIRT622379	hsa-miR-1208	HITS-CLIP	23824327
MIRT622378	hsa-miR-622	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT622377	hsa-miR-548ac	HITS-CLIP	23824327
MIRT622376	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT622375	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT622374	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT622373	hsa-miR-548z	HITS-CLIP	23824327
MIRT622372	hsa-miR-548aa	HITS-CLIP	23824327
MIRT622371	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT622370	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT622369	hsa-miR-607	HITS-CLIP	23824327
MIRT546613	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT546612	hsa-miR-107	PAR-CLIP	20371350
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546610	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546609	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT031523	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546606	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546605	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	20371350
MIRT546603	hsa-miR-646	PAR-CLIP	20371350
MIRT546601	hsa-miR-4310	PAR-CLIP	20371350
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	20371350
MIRT546600	hsa-miR-4289	PAR-CLIP	20371350
MIRT284250	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT546599	hsa-miR-4530	PAR-CLIP	20371350
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT546594	hsa-miR-3611	PAR-CLIP	20371350
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT565936	hsa-miR-7159-3p	PAR-CLIP	20371350
MIRT565935	hsa-miR-4482-3p	PAR-CLIP	20371350
MIRT546613	hsa-miR-338-3p	PAR-CLIP	20371350
MIRT546612	hsa-miR-107	PAR-CLIP	20371350
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546610	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546609	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT031523	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546606	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546605	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	20371350
MIRT546603	hsa-miR-646	PAR-CLIP	20371350
MIRT546601	hsa-miR-4310	PAR-CLIP	20371350
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	20371350
MIRT546600	hsa-miR-4289	PAR-CLIP	20371350
MIRT546599	hsa-miR-4530	PAR-CLIP	20371350
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT546594	hsa-miR-3611	PAR-CLIP	20371350
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT546613	hsa-miR-338-3p	PAR-CLIP	21572407
MIRT546612	hsa-miR-107	PAR-CLIP	21572407
MIRT027034	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT546611	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT546610	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT546609	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT546608	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT031523	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT546607	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT546606	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT546605	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT546604	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT546603	hsa-miR-646	PAR-CLIP	21572407
MIRT546601	hsa-miR-4310	PAR-CLIP	21572407
MIRT546602	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT546600	hsa-miR-4289	PAR-CLIP	21572407
MIRT546599	hsa-miR-4530	PAR-CLIP	21572407
MIRT546598	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT546597	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT546596	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT546595	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT546594	hsa-miR-3611	PAR-CLIP	21572407
MIRT546593	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT534537	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT534536	hsa-miR-21-3p	PAR-CLIP	22012620
MIRT534535	hsa-miR-3591-3p	PAR-CLIP	22012620
MIRT534534	hsa-miR-10b-3p	PAR-CLIP	22012620
MIRT534533	hsa-miR-4649-3p	PAR-CLIP	22012620
MIRT534532	hsa-miR-1827	PAR-CLIP	22012620
MIRT534531	hsa-miR-7112-3p	PAR-CLIP	22012620
MIRT534530	hsa-miR-4711-5p	PAR-CLIP	22012620
MIRT534529	hsa-miR-1256	PAR-CLIP	22012620
MIRT534528	hsa-miR-5007-3p	PAR-CLIP	22012620
MIRT1324889	hsa-miR-103a	CLIP-seq
MIRT1324890	hsa-miR-15a	CLIP-seq
MIRT1324891	hsa-miR-15b	CLIP-seq
MIRT1324892	hsa-miR-16	CLIP-seq
MIRT1324893	hsa-miR-195	CLIP-seq
MIRT1324894	hsa-miR-424	CLIP-seq
MIRT1324895	hsa-miR-4524	CLIP-seq
MIRT1324896	hsa-miR-497	CLIP-seq
MIRT1324897	hsa-miR-503	CLIP-seq
MIRT1324898	hsa-miR-1908	CLIP-seq
MIRT1324899	hsa-miR-3180	CLIP-seq
MIRT1324900	hsa-miR-3180-3p	CLIP-seq
MIRT1324901	hsa-miR-3196	CLIP-seq
MIRT1324902	hsa-miR-4447	CLIP-seq
MIRT1324903	hsa-miR-4472	CLIP-seq
MIRT1324904	hsa-miR-4651	CLIP-seq
MIRT1324905	hsa-miR-608	CLIP-seq
MIRT1324906	hsa-miR-663	CLIP-seq
MIRT1324907	hsa-miR-744	CLIP-seq
MIRT2432906	hsa-miR-101	CLIP-seq
MIRT2432907	hsa-miR-1297	CLIP-seq
MIRT2432908	hsa-miR-144	CLIP-seq
MIRT2432909	hsa-miR-26a	CLIP-seq
MIRT2432910	hsa-miR-26b	CLIP-seq
MIRT2432911	hsa-miR-3143	CLIP-seq
MIRT2432912	hsa-miR-3613-3p	CLIP-seq
MIRT2432913	hsa-miR-4282	CLIP-seq
MIRT2432914	hsa-miR-4465	CLIP-seq
MIRT2432915	hsa-miR-4477a	CLIP-seq
MIRT2432916	hsa-miR-4709-3p	CLIP-seq
MIRT2432917	hsa-miR-543	CLIP-seq
MIRT2432918	hsa-miR-582-5p	CLIP-seq
MIRT2440034	hsa-miR-3120-3p	CLIP-seq
MIRT2458725	hsa-miR-1252	CLIP-seq
MIRT2458726	hsa-miR-2110	CLIP-seq
MIRT2458727	hsa-miR-3179	CLIP-seq
MIRT1324899	hsa-miR-3180	CLIP-seq
MIRT1324900	hsa-miR-3180-3p	CLIP-seq
MIRT1324901	hsa-miR-3196	CLIP-seq
MIRT2458728	hsa-miR-3202	CLIP-seq
MIRT2458729	hsa-miR-4271	CLIP-seq
MIRT2458730	hsa-miR-4476	CLIP-seq
MIRT2458731	hsa-miR-4667-5p	CLIP-seq
MIRT2458732	hsa-miR-4700-5p	CLIP-seq
MIRT2458733	hsa-miR-4725-3p	CLIP-seq
MIRT2458734	hsa-miR-637	CLIP-seq
MIRT2458725	hsa-miR-1252	CLIP-seq
MIRT2458726	hsa-miR-2110	CLIP-seq
MIRT2458727	hsa-miR-3179	CLIP-seq
MIRT1324899	hsa-miR-3180	CLIP-seq
MIRT1324900	hsa-miR-3180-3p	CLIP-seq
MIRT1324901	hsa-miR-3196	CLIP-seq
MIRT2458728	hsa-miR-3202	CLIP-seq
MIRT2458729	hsa-miR-4271	CLIP-seq
MIRT2458730	hsa-miR-4476	CLIP-seq
MIRT2458731	hsa-miR-4667-5p	CLIP-seq
MIRT2458732	hsa-miR-4700-5p	CLIP-seq
MIRT2458733	hsa-miR-4725-3p	CLIP-seq
MIRT2458734	hsa-miR-637	CLIP-seq
MIRT2458725	hsa-miR-1252	CLIP-seq
MIRT2458726	hsa-miR-2110	CLIP-seq
MIRT2458727	hsa-miR-3179	CLIP-seq
MIRT1324899	hsa-miR-3180	CLIP-seq
MIRT1324900	hsa-miR-3180-3p	CLIP-seq
MIRT1324901	hsa-miR-3196	CLIP-seq
MIRT2458728	hsa-miR-3202	CLIP-seq
MIRT2458729	hsa-miR-4271	CLIP-seq
MIRT2458730	hsa-miR-4476	CLIP-seq
MIRT2458731	hsa-miR-4667-5p	CLIP-seq
MIRT2458732	hsa-miR-4700-5p	CLIP-seq
MIRT2458733	hsa-miR-4725-3p	CLIP-seq
MIRT2458734	hsa-miR-637	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16443351
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000792	Component	Heterochromatin	IDA	15158448
GO:0000792	Component	Heterochromatin	IEA
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001657	Process	Ureteric bud development	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001822	Process	Kidney development	IMP	16971658
GO:0003281	Process	Ventricular septum development	ISS
GO:0003337	Process	Mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0003337	Process	Mesenchymal to epithelial transition involved in metanephros morphogenesis	IEP	11511981
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	18297069, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12065233, 16443351
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	12065233
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	11484202
GO:0008013	Function	Beta-catenin binding	IDA	15158448
GO:0008270	Function	Zinc ion binding	IEA
GO:0008406	Process	Gonad development	IEP	11511981
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0010369	Component	Chromocenter	IDA	16443351
GO:0021553	Process	Olfactory nerve development	ISS
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021889	Process	Olfactory bulb interneuron differentiation	ISS
GO:0021983	Process	Pituitary gland development	IEP	12065233
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	15158448
GO:0030325	Process	Adrenal gland development	IEP	12065233
GO:0031129	Process	Inductive cell-cell signaling	ISS
GO:0035295	Process	Tube development	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	18280297
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	16443351
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15158448
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15158448
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048566	Process	Embryonic digestive tract development	IMP	18280297
GO:0060173	Process	Limb development	IMP	18470945
GO:0061034	Process	Olfactory bulb mitral cell layer development	IMP	18024993
GO:0072073	Process	Kidney epithelium development	ISS
GO:0072092	Process	Ureteric bud invasion	ISS

Other IDs

• MIM: 602218
• HGNC: 10524
• e!Ensembl: ENSG00000103449

Protein

• UniProt ID: Q9NSC2
• Protein name: Sal-like protein 1 (Spalt-like transcription factor 1) (Zinc finger protein 794) (Zinc finger protein SALL1) (Zinc finger protein Spalt-1) (HSal1) (Sal-1)
• Protein function: Transcriptional repressor involved in organogenesis. Plays an essential role in ureteric bud invasion during kidney development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	477 → 499	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	734 → 756	Zinc finger, C2H2 type	Domain
  PF12874	zf-met	766 → 786		Domain
  PF12874	zf-met	1001 → 1024		Domain
  PF00096	zf-C2H2	1029 → 1051	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	1134 → 1156	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	1162 → 1184	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.
• Sequence:

  MSRRKQAKPQHFQSDPEVASLPRRDGDTEKGQPSRPTKSKDAHVCGRCCAEFFELSDLLL
  HKKNCTKNQLVLIVNENPASPPETFSPSPPPDNPDEQMNDTVNKTDQVDCSDLSEHNGLD
  REESMEVEAPVANKSGSGTSSGSHSSTAPSSSSSSSSSSGGGGSSSTGTSAITTSLPQLG
  DLTTLGNFSVINSNVIIENLQSTKVAVAQFSQEARCGGASGGKLAVPALMEQLLALQQQQ
  IHQLQLIEQIRHQILLLASQNADLPTSSSPSQGTLRTSANPLSTLSSHLSQQLAAAAGLA
  QSLASQSASISGVKQLPPIQLPQSSSGNTIIPSNSGSSPNMNILAAAVTTPSSEKVASSA
  GASHVSNPAVSSSSSPAFAISSLLSPASNPLLPQQASANSVFPSPLPNIGTTAEDLNSLS
  ALAQQRKSKPPNVTAFEAKSTSDEAFFKHKCRFCAKVFGSDSALQIHLRSHTGERPFKCN
  ICGNRFSTKGNLKVHFQRHKEKYPHIQMNPYPVPEHLDNIPTSTGIPYGMSIPPEKPVTS
  WLDTKPVLPTLTTSVGLPLPPTLPSLIPFIKTEEPAPIPISHSATSPPGSVKSDSGGPES
  ATRNLGGLPEEAEGSTLPPSGGKSEESGMVTNSVPTASSSVLSSPAADCGPAGSATTFTN
  PLLPLMSEQFKAKFPFGGLLDSAQASETSKLQQLVENIDKKATDPNECIICHRVLSCQSA
  LKMHYRTHTGERPFKCKICGRAFTTKGNLKTHYSVHRAMPPLRVQHSCPICQKKFTNAVV
  LQQHIRMHMGGQIPNTPVPDSYSESMESDTGSFDEKNFDDLDNFSDENMEDCPEGSIPDT
  PKSADASQDSLSSSPLPLEMSSIAALENQMKMINAGLAEQLQASLKSVENGSIEGDVLTN
  DSSSVGGDMESQSAGSPAISESTSSMQALSPSNSTQEFHKSPSIEEKPQRAVPSEFANGL
  SPTPVNGGALDLTSSHAEKIIKEDSLGILFPFRDRGKFKNTACDICGKTFACQSALDIHY
  RSHTKERPFICTVCNRGFSTKGNLKQHMLTHQMRDLPSQLFEPSSNLGPNQNSAVIPANS
  LSSLIKTEVNGFVHVSPQDSKDTPTSHVPSGPLSSSATSPVLLPALPRRTPKQHYCNTCG
  KTFSSSSALQIHERTHTGEKPFACTICGRAFTTKGNLKVHMGTHMWNSTPARRGRRLSVD
  GPMTFLGGNPVKFPEMFQKDLAARSGSGDPSSFWNQYAAALSNGLAMKANEISVIQNGGI
  PPIPGSLGSGNSSPVSGLTGNLERLQNSEPNAPLAGLEKMASSENGTNFRFTRFVEDSKE
  IVTS

• Sequence length: 1324

Pathways

Reactome:

POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation

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
Congenital anomaly of kidney and urinary tract	Likely pathogenic	rs776856200	RCV001849618	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Pathogenic	rs2143448771	RCV005626422	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SALL1-related disorder	Pathogenic; Likely pathogenic	rs2506494808, rs2506487918, rs2506498947, rs1064793257	RCV003926655 RCV003412428 RCV003894418 RCV004751556	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Townes syndrome	Pathogenic; Likely pathogenic	rs2143446012, rs2143448019, rs2143448046, rs2143448771, rs2143448859, rs2143449682, rs2506494808, rs188182072, rs2506494740, rs2506496552, rs864321635, rs104894537, rs104894538, rs886041236, rs2506492916, rs2506492504, rs2506493255, rs777802829, rs2506483483, rs2506487275, rs1064793257, rs1555475275, rs1555475120, rs1555475342, rs1555475106, rs1555475319, rs1555475334, rs1567316325, rs1597228188, rs1597230288, rs1962428520, rs1962424706, rs1962442258	RCV001381054 RCV001381951 RCV001383646 RCV001382908 RCV001389539 RCV001887670 RCV003058499 RCV002837503 RCV002898877 RCV003022290 RCV000634152 RCV000792529 RCV000697040 RCV001386756 RCV003319972 RCV003594962 RCV003594741 RCV003593594 RCV003758218 RCV003758373 RCV000526857 RCV000548925 RCV000525061 RCV001853841 RCV000634153 RCV000634151 RCV000634150 RCV001386803 RCV000821059 RCV000803639 RCV001218743 RCV001205091 RCV001203386	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Townes-Brocks syndrome 1	Likely pathogenic; Pathogenic	rs2143452445, rs2143436744, rs2143450145, rs2143446286, rs2143449624, rs2143442678, rs371508788, rs864321635, rs1597230349, rs104894535, rs104894537, rs1597230341, rs1597230241, rs1597230909, rs104894538, rs137853084, rs1597230687, rs2506487537, rs2506493436, rs2506494395, rs2506476542, rs2506498891, rs2506495554, rs2506491042, rs1064793257, rs1085307143, rs1597228568, rs1597228490, rs1597229151, rs1962424706, rs1197587893, rs1962410902	RCV001353177 RCV001808305 RCV002226901 RCV002226956 RCV002260954 RCV002274276 RCV002283994 RCV000203506 RCV000007851 RCV000007852 RCV000007853 RCV000007854 RCV000007855 RCV000007856 RCV000007858 RCV000989601 RCV000007860 RCV000007862 RCV004577631 RCV003485011 RCV003985198 RCV004566442 RCV004556890 RCV004556914 RCV004595081 RCV000007863 RCV000489064 RCV000995629 RCV001029827 RCV001029980 RCV003322867 RCV001249670 RCV001290092	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Townes-Brocks-branchiootorenal-like syndrome	Pathogenic	rs1597229721, rs104894538	RCV000007857 RCV000007859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE LOBE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOWNES-BROCKS SYNDROME	—	CTD, HPO, Orphanet CTD, HPO, Orphanet CTD, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL ASSOCIATION WITH HYDROCEPHALUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL with hydrocephalus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus Imperforate	Imperforate anus	Pubtator	33478437	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	27900426		★☆☆☆☆ Found in Text Mining only
Bilateral renal hypoplasia	Bilateral renal hypoplasia	BEFREE	28760814		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Branchio-Oto-Renal Syndrome	Branchiootorenal Syndrome	BEFREE	16971658		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24292671, 25774687, 29625565		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20205715, 33441805	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	24429398, 29197384	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	31784758		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20484983		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of toe	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25774687		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31784758		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25774687	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	23069192	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	9973281		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital urethral valve	Congenital Malformation Of The Urinary System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	33095980	Associate	★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	39909351	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	23069192	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29290026, 30022253		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29290026, 30022253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	19005989		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	23894113	Associate	★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	33478437	Associate	★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	23894113, 38296632	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27878761	Associate	★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	8049142		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	21427129		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31040265	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31040265	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	28759006		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	39910415	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	33478437	Associate	★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar Syndrome	BEFREE	17431915, 9973281		★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar syndrome	Pubtator	9973281	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33478437	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	29110636, 33478437	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32037394	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24165912	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	23894113	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23069192		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23069192	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	19204018		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33478437	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	17910067		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29484122		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	16088922, 9425907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	18000979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24292671, 25774687, 29625565		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31693770		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24292671, 29625565		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25774687		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	23069192		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29290026		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31715502		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11511981, 24292671, 29625565		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11511981		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	BEFREE	28759006		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	28759006		★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	33441805	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28479495, 31432256		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27878761	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29989488		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	39910415	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31693770		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	10654325		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	10654325, 17450386		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	27878761	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34257535	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	28321531		★☆☆☆☆ Found in Text Mining only
Townes syndrome	Townes Syndrome	BEFREE	10343095, 10533063, 11102974, 11478532, 11484202, 11511981, 12065233, 12200128, 16088922, 16429401, 16443351, 16892410, 16971658, 17221874, 18000979, 18280297, 18470945, 19005989, 19204018, 20003547, 20053786, 22308078, 22903933, 23894113, 29395072, 9425907, 9973281		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Townes syndrome	Townes Syndrome	CLINVAR_DG	16088922, 9973281		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Townes syndrome	Townes Syndrome	CTD_human_DG	16088922, 9425907		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Townes syndrome	Townes Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Townes-Brocks syndrome	Townes-Brocks Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOWNES-BROCKS SYNDROME 1	Townes-Brocks Syndrome	GENOMICS_ENGLAND_DG	10533063, 9973281		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TOWNES-BROCKS SYNDROME 1	Townes-Brocks Syndrome	CLINVAR_DG	14627694, 26380986		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Townes-Brocks-Branchiootorenal-Like Syndrome	Townes-Brocks-Branchiootorenal-Like Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	29110636, 33478437	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	8049142		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	27900426		★☆☆☆☆ Found in Text Mining only