ASCC1 (activating signal cointegrator 1 complex subunit 1)

Gene

• Entrez ID: 51008
• Gene name: Activating signal cointegrator 1 complex subunit 1
• Gene symbol: ASCC1
• Synonyms (NCBI Gene): ASC1p50, CGI-18, SMABF2, p50
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs145940742	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs146370051	T>C	Benign, pathogenic, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs183415577	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs747595523	C>T	Pathogenic	Splice donor variant
rs753324947	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs866050664	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1389098934	G>A,T	Pathogenic	Stop gained, coding sequence variant, intron variant, synonymous variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT714021	hsa-miR-6776-3p	HITS-CLIP	19536157
MIRT714020	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT714019	hsa-miR-500b-3p	HITS-CLIP	19536157
MIRT714018	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615727	hsa-miR-944	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615727	hsa-miR-944	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615727	hsa-miR-944	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615727	hsa-miR-944	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT446510	hsa-miR-543	PAR-CLIP	22100165
MIRT446509	hsa-miR-451b	PAR-CLIP	22100165
MIRT446508	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT446507	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT446506	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT446505	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT446504	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT446503	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT446502	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT446501	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT446500	hsa-miR-646	PAR-CLIP	22100165
MIRT446499	hsa-miR-335-5p	PAR-CLIP	22100165
MIRT446498	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT446497	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT446496	hsa-miR-1287-3p	PAR-CLIP	22100165
MIRT714021	hsa-miR-6776-3p	HITS-CLIP	19536157
MIRT714020	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT714019	hsa-miR-500b-3p	HITS-CLIP	19536157
MIRT714018	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615727	hsa-miR-944	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615727	hsa-miR-944	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615727	hsa-miR-944	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT615731	hsa-miR-548n	HITS-CLIP	23824327
MIRT615730	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT615729	hsa-miR-548k	HITS-CLIP	23824327
MIRT615728	hsa-miR-8054	HITS-CLIP	23824327
MIRT615727	hsa-miR-944	HITS-CLIP	23824327
MIRT615726	hsa-miR-8485	HITS-CLIP	23824327
MIRT615725	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615724	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615723	hsa-miR-603	HITS-CLIP	23824327
MIRT615722	hsa-miR-3941	HITS-CLIP	23824327
MIRT446510	hsa-miR-543	PAR-CLIP	22100165
MIRT446509	hsa-miR-451b	PAR-CLIP	22100165
MIRT446508	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT446507	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT446506	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT446505	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT446504	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT446503	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT446502	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT446501	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT446500	hsa-miR-646	PAR-CLIP	22100165
MIRT446499	hsa-miR-335-5p	PAR-CLIP	22100165
MIRT446498	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT446497	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT446496	hsa-miR-1287-3p	PAR-CLIP	22100165
MIRT802582	hsa-miR-1224-5p	CLIP-seq
MIRT802583	hsa-miR-1255a	CLIP-seq
MIRT802584	hsa-miR-1255b	CLIP-seq
MIRT802585	hsa-miR-1323	CLIP-seq
MIRT802586	hsa-miR-3160-5p	CLIP-seq
MIRT802587	hsa-miR-3915	CLIP-seq
MIRT802588	hsa-miR-4473	CLIP-seq
MIRT802589	hsa-miR-4639-5p	CLIP-seq
MIRT802590	hsa-miR-4676-5p	CLIP-seq
MIRT802591	hsa-miR-4689	CLIP-seq
MIRT802592	hsa-miR-4704-3p	CLIP-seq
MIRT802593	hsa-miR-4719	CLIP-seq
MIRT802594	hsa-miR-4751	CLIP-seq
MIRT802595	hsa-miR-4802-3p	CLIP-seq
MIRT802596	hsa-miR-490-5p	CLIP-seq
MIRT802597	hsa-miR-512-3p	CLIP-seq
MIRT802598	hsa-miR-520f	CLIP-seq
MIRT802599	hsa-miR-548aa	CLIP-seq
MIRT802600	hsa-miR-548o	CLIP-seq
MIRT802601	hsa-miR-575	CLIP-seq
MIRT802602	hsa-miR-1207-3p	CLIP-seq
MIRT802603	hsa-miR-4633-5p	CLIP-seq
MIRT802582	hsa-miR-1224-5p	CLIP-seq
MIRT802583	hsa-miR-1255a	CLIP-seq
MIRT802584	hsa-miR-1255b	CLIP-seq
MIRT802604	hsa-miR-184	CLIP-seq
MIRT802605	hsa-miR-3125	CLIP-seq
MIRT802606	hsa-miR-335	CLIP-seq
MIRT802607	hsa-miR-3545-3p	CLIP-seq
MIRT802608	hsa-miR-3622a-3p	CLIP-seq
MIRT802609	hsa-miR-3622b-3p	CLIP-seq
MIRT802587	hsa-miR-3915	CLIP-seq
MIRT802610	hsa-miR-3916	CLIP-seq
MIRT802611	hsa-miR-4325	CLIP-seq
MIRT802612	hsa-miR-4480	CLIP-seq
MIRT802613	hsa-miR-4539	CLIP-seq
MIRT802590	hsa-miR-4676-5p	CLIP-seq
MIRT802591	hsa-miR-4689	CLIP-seq
MIRT802592	hsa-miR-4704-3p	CLIP-seq
MIRT802593	hsa-miR-4719	CLIP-seq
MIRT802614	hsa-miR-4724-5p	CLIP-seq
MIRT802594	hsa-miR-4751	CLIP-seq
MIRT802595	hsa-miR-4802-3p	CLIP-seq
MIRT802615	hsa-miR-4804-5p	CLIP-seq
MIRT802596	hsa-miR-490-5p	CLIP-seq
MIRT802616	hsa-miR-522	CLIP-seq
MIRT802617	hsa-miR-548c-3p	CLIP-seq
MIRT802601	hsa-miR-575	CLIP-seq
MIRT802618	hsa-miR-642b	CLIP-seq
MIRT802619	hsa-miR-877	CLIP-seq
MIRT1936972	hsa-miR-1208	CLIP-seq
MIRT802582	hsa-miR-1224-5p	CLIP-seq
MIRT1936973	hsa-miR-1253	CLIP-seq
MIRT802583	hsa-miR-1255a	CLIP-seq
MIRT802584	hsa-miR-1255b	CLIP-seq
MIRT1936974	hsa-miR-1270	CLIP-seq
MIRT1936975	hsa-miR-1273f	CLIP-seq
MIRT802604	hsa-miR-184	CLIP-seq
MIRT1936976	hsa-miR-3146	CLIP-seq
MIRT802587	hsa-miR-3915	CLIP-seq
MIRT1936977	hsa-miR-4251	CLIP-seq
MIRT1936978	hsa-miR-4310	CLIP-seq
MIRT1936979	hsa-miR-4436b-5p	CLIP-seq
MIRT802589	hsa-miR-4639-5p	CLIP-seq
MIRT802590	hsa-miR-4676-5p	CLIP-seq
MIRT1936980	hsa-miR-4683	CLIP-seq
MIRT802591	hsa-miR-4689	CLIP-seq
MIRT802592	hsa-miR-4704-3p	CLIP-seq
MIRT1936981	hsa-miR-4712-3p	CLIP-seq
MIRT802593	hsa-miR-4719	CLIP-seq
MIRT802594	hsa-miR-4751	CLIP-seq
MIRT802595	hsa-miR-4802-3p	CLIP-seq
MIRT1936982	hsa-miR-4802-5p	CLIP-seq
MIRT802615	hsa-miR-4804-5p	CLIP-seq
MIRT802596	hsa-miR-490-5p	CLIP-seq
MIRT802599	hsa-miR-548aa	CLIP-seq
MIRT1936983	hsa-miR-548ac	CLIP-seq
MIRT1936984	hsa-miR-548d-3p	CLIP-seq
MIRT1936985	hsa-miR-548z	CLIP-seq
MIRT802601	hsa-miR-575	CLIP-seq
MIRT1936986	hsa-miR-620	CLIP-seq
MIRT802618	hsa-miR-642b	CLIP-seq
MIRT1936972	hsa-miR-1208	CLIP-seq
MIRT802582	hsa-miR-1224-5p	CLIP-seq
MIRT802583	hsa-miR-1255a	CLIP-seq
MIRT802584	hsa-miR-1255b	CLIP-seq
MIRT802585	hsa-miR-1323	CLIP-seq
MIRT2176770	hsa-miR-224	CLIP-seq
MIRT1936976	hsa-miR-3146	CLIP-seq
MIRT802607	hsa-miR-3545-3p	CLIP-seq
MIRT802608	hsa-miR-3622a-3p	CLIP-seq
MIRT802609	hsa-miR-3622b-3p	CLIP-seq
MIRT802587	hsa-miR-3915	CLIP-seq
MIRT1936978	hsa-miR-4310	CLIP-seq
MIRT2176771	hsa-miR-4421	CLIP-seq
MIRT1936979	hsa-miR-4436b-5p	CLIP-seq
MIRT802613	hsa-miR-4539	CLIP-seq
MIRT802589	hsa-miR-4639-5p	CLIP-seq
MIRT802590	hsa-miR-4676-5p	CLIP-seq
MIRT802591	hsa-miR-4689	CLIP-seq
MIRT802592	hsa-miR-4704-3p	CLIP-seq
MIRT802593	hsa-miR-4719	CLIP-seq
MIRT802594	hsa-miR-4751	CLIP-seq
MIRT802595	hsa-miR-4802-3p	CLIP-seq
MIRT802596	hsa-miR-490-5p	CLIP-seq
MIRT802599	hsa-miR-548aa	CLIP-seq
MIRT802600	hsa-miR-548o	CLIP-seq
MIRT802601	hsa-miR-575	CLIP-seq
MIRT802618	hsa-miR-642b	CLIP-seq
MIRT802582	hsa-miR-1224-5p	CLIP-seq
MIRT802583	hsa-miR-1255a	CLIP-seq
MIRT802584	hsa-miR-1255b	CLIP-seq
MIRT1936976	hsa-miR-3146	CLIP-seq
MIRT802608	hsa-miR-3622a-3p	CLIP-seq
MIRT802609	hsa-miR-3622b-3p	CLIP-seq
MIRT802587	hsa-miR-3915	CLIP-seq
MIRT802589	hsa-miR-4639-5p	CLIP-seq
MIRT802591	hsa-miR-4689	CLIP-seq
MIRT802594	hsa-miR-4751	CLIP-seq
MIRT802595	hsa-miR-4802-3p	CLIP-seq
MIRT802596	hsa-miR-490-5p	CLIP-seq
MIRT802618	hsa-miR-642b	CLIP-seq
MIRT1936972	hsa-miR-1208	CLIP-seq
MIRT802582	hsa-miR-1224-5p	CLIP-seq
MIRT802583	hsa-miR-1255a	CLIP-seq
MIRT802584	hsa-miR-1255b	CLIP-seq
MIRT2480142	hsa-miR-132	CLIP-seq
MIRT802585	hsa-miR-1323	CLIP-seq
MIRT2480143	hsa-miR-144	CLIP-seq
MIRT2480144	hsa-miR-212	CLIP-seq
MIRT2176770	hsa-miR-224	CLIP-seq
MIRT1936976	hsa-miR-3146	CLIP-seq
MIRT802607	hsa-miR-3545-3p	CLIP-seq
MIRT802587	hsa-miR-3915	CLIP-seq
MIRT1936977	hsa-miR-4251	CLIP-seq
MIRT2480145	hsa-miR-4307	CLIP-seq
MIRT1936978	hsa-miR-4310	CLIP-seq
MIRT802611	hsa-miR-4325	CLIP-seq
MIRT1936979	hsa-miR-4436b-5p	CLIP-seq
MIRT802613	hsa-miR-4539	CLIP-seq
MIRT802589	hsa-miR-4639-5p	CLIP-seq
MIRT2480146	hsa-miR-4645-3p	CLIP-seq
MIRT802590	hsa-miR-4676-5p	CLIP-seq
MIRT802591	hsa-miR-4689	CLIP-seq
MIRT802592	hsa-miR-4704-3p	CLIP-seq
MIRT1936981	hsa-miR-4712-3p	CLIP-seq
MIRT802593	hsa-miR-4719	CLIP-seq
MIRT802614	hsa-miR-4724-5p	CLIP-seq
MIRT802594	hsa-miR-4751	CLIP-seq
MIRT802595	hsa-miR-4802-3p	CLIP-seq
MIRT802596	hsa-miR-490-5p	CLIP-seq
MIRT2480147	hsa-miR-496	CLIP-seq
MIRT802616	hsa-miR-522	CLIP-seq
MIRT802599	hsa-miR-548aa	CLIP-seq
MIRT1936983	hsa-miR-548ac	CLIP-seq
MIRT802617	hsa-miR-548c-3p	CLIP-seq
MIRT1936984	hsa-miR-548d-3p	CLIP-seq
MIRT802600	hsa-miR-548o	CLIP-seq
MIRT1936985	hsa-miR-548z	CLIP-seq
MIRT2480148	hsa-miR-567	CLIP-seq
MIRT802601	hsa-miR-575	CLIP-seq
MIRT2480149	hsa-miR-580	CLIP-seq
MIRT802618	hsa-miR-642b	CLIP-seq
MIRT1936972	hsa-miR-1208	CLIP-seq
MIRT802582	hsa-miR-1224-5p	CLIP-seq
MIRT802583	hsa-miR-1255a	CLIP-seq
MIRT802584	hsa-miR-1255b	CLIP-seq
MIRT2480142	hsa-miR-132	CLIP-seq
MIRT802585	hsa-miR-1323	CLIP-seq
MIRT2480143	hsa-miR-144	CLIP-seq
MIRT2480144	hsa-miR-212	CLIP-seq
MIRT2176770	hsa-miR-224	CLIP-seq
MIRT1936976	hsa-miR-3146	CLIP-seq
MIRT802607	hsa-miR-3545-3p	CLIP-seq
MIRT802587	hsa-miR-3915	CLIP-seq
MIRT1936977	hsa-miR-4251	CLIP-seq
MIRT2480145	hsa-miR-4307	CLIP-seq
MIRT1936978	hsa-miR-4310	CLIP-seq
MIRT802611	hsa-miR-4325	CLIP-seq
MIRT1936979	hsa-miR-4436b-5p	CLIP-seq
MIRT802613	hsa-miR-4539	CLIP-seq
MIRT802589	hsa-miR-4639-5p	CLIP-seq
MIRT2480146	hsa-miR-4645-3p	CLIP-seq
MIRT802590	hsa-miR-4676-5p	CLIP-seq
MIRT802591	hsa-miR-4689	CLIP-seq
MIRT802592	hsa-miR-4704-3p	CLIP-seq
MIRT1936981	hsa-miR-4712-3p	CLIP-seq
MIRT802593	hsa-miR-4719	CLIP-seq
MIRT802614	hsa-miR-4724-5p	CLIP-seq
MIRT802594	hsa-miR-4751	CLIP-seq
MIRT802595	hsa-miR-4802-3p	CLIP-seq
MIRT802596	hsa-miR-490-5p	CLIP-seq
MIRT2480147	hsa-miR-496	CLIP-seq
MIRT802616	hsa-miR-522	CLIP-seq
MIRT802599	hsa-miR-548aa	CLIP-seq
MIRT802617	hsa-miR-548c-3p	CLIP-seq
MIRT802600	hsa-miR-548o	CLIP-seq
MIRT2480148	hsa-miR-567	CLIP-seq
MIRT802601	hsa-miR-575	CLIP-seq
MIRT2480149	hsa-miR-580	CLIP-seq
MIRT802618	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 29997253, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12077347, 26924529, 29997253
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	12077347
GO:0006260	Process	DNA replication	NAS	29997253
GO:0006281	Process	DNA repair	IEA
GO:0006307	Process	DNA alkylation repair	IEA
GO:0006307	Process	DNA alkylation repair	NAS	29997253
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	12077347
GO:0006974	Process	DNA damage response	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:1990391	Component	DNA repair complex	IPI	29997253

Other IDs

• MIM: 614215
• HGNC: 24268
• e!Ensembl: ENSG00000138303

Protein

• UniProt ID: Q8N9N2
• Protein name: Activating signal cointegrator 1 complex subunit 1 (ASC-1 complex subunit p50) (Trip4 complex subunit p50)
• Protein function: Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals,
• PDB: 8TLY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00013	KH_1	92 → 149	KH domain	Domain
  PF10469	AKAP7_NLS	161 → 378		Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12077347}.
• Sequence:

  MEVLRPQLIRIDGRNYRKNPVQEQTYQHEEDEEDFYQGSMECADEPCDAYEVEQTPQGFR
  STLRAPSLLYNLIHLNTSNDCGFQKITLDCQNIYTWKSRHIVGKRGDTRKKIEMETKTSI
  SIPKPGQDGEIVITGQHRNGVISARTRIDVLLDTFRRKQPFTHFLAFFLNEVEVQEGFLR
  FQEEVLAKCSMDHGVDSSIFQNPKKLHLTIGMLVLLSEEEIQQTCEMLQQCKEEFINDIS
  GGKPLEVEMAGIEYMNDDPGMVDVLYAKVHMKDGSNRLQELVDRVLERFQASGLIVKEWN
  SVKLHATVMNTLFRKDPNAEGRYNLYTAEGKYIFKERESFDGRNILKSFALLPRLEYNDA
  ISAHCNLCLPGSSDSPASASQVAGITGVSDAYSQSLPGKS

• Sequence length: 400

Pathways

Reactome:

ALKBH3 mediated reversal of alkylation damage

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
Arthrogryposis multiplex congenita	Likely pathogenic; Pathogenic	rs747595523	RCV000855457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ASCC1-related disorder	Likely pathogenic; Pathogenic	rs753324947, rs2493337844	RCV004579541 RCV003419044	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Barrett esophagus	Pathogenic	rs138245920	RCV001706772	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Centronuclear myopathy	Pathogenic	rs866050664	RCV004586997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs747595523	RCV000855457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy with congenital bone fractures 2	Pathogenic; Likely pathogenic	rs778054296, rs763845791, rs746994660, rs769501930, rs753324947, rs2494126465, rs1856793994, rs747595523, rs183415577, rs866050664, rs1389098934, rs1281256224	RCV001330476 RCV001844369 RCV001733836 RCV001809030 RCV000210274 RCV003234947 RCV003985131 RCV000791458 RCV000986101 RCV000986102 RCV000986104 RCV001563713	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs1281256224	RCV005909302	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	26279205		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21750116		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	28281555		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	26988706		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24345324		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27512062		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27454293		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	12868372		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	28749478		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	33931933	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11381677, 12005399		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31649298		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31260720		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31378910, 31635187		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	21791690		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Barrett Esophagus	Barrett esophagus	Pubtator	21791690	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Barrett Esophagus	Barrett esophagus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Barrett Esophagus	Barrett esophagus	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bipolar Disorder	Bipolar Disorder	BEFREE	15625200, 16823804, 17123476, 17224092, 18189279, 18545269, 29981961		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	33931933	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	37455927	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	24339136, 31536946		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15481028, 29423058		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	24339136		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17145890		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	18025535		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	18675321		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17098279		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17098279		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25922067, 26062845		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	18635891		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16262206, 31780341		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19509257		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29588321		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	26279205		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	23671649		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	23671649, 24818816		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23671649		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	9928378		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	19095643, 31463646		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28482921, 30316071		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29669934, 30581781		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29669934, 30581781		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28281555		★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	BEFREE	18523147		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22711307, 26293665		★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	17952198		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial erythrocytosis	Erythrocytosis	BEFREE	17952198		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	25356681		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	12579020		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	17145890		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29743985		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31697709		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30138396, 31306362		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26663363, 30030559, 30940658		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26663363, 30030559, 30940658		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22810421, 30030559		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35460558	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	19295544		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	26988706		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30151392		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18635891		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16262206, 29202656, 31780341		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	28766916		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	16123212		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29669934		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16254192		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	16219794		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15481028, 17369819, 29423058		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22711307		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	16998793		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17145890		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25611381		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12727841		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12527907, 16254192, 25404639, 27454293, 28181923, 28549179, 28670959, 29588321, 30014762		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17098279		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19509257		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10713699		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19574933		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	17014995, 29202656		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22689055		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28550252		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16917511		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	38143368	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	29588321		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19168865		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28218388		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	14678988		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20009901, 22761754, 23437404, 24114584, 28823542, 29508276, 29588321, 30014762, 30030559, 30250646, 30496041, 30862497, 31408824		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	8428579		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	28218388		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Barrett esophagus	Barrett esophagus	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	7675461		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	15625200, 17123476, 17514428, 18189279, 20102668, 21655260, 22588665, 24339136, 31111773, 31649298		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	31306362		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19151744		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	26178921		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	17145890		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	29296226		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25611381		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27454293		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	GENOMICS_ENGLAND_DG	28749478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	16123212		★☆☆☆☆ Found in Text Mining only
Perry Syndrome	Perry Syndrome	BEFREE	28789478		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	17952198, 19295544		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	18793248	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	18793248		★☆☆☆☆ Found in Text Mining only
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Spinal Muscular Atrophy With Congenital Bone Fractures	Orphanet			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12727841, 15498932		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	15625200, 17123476, 17514428, 18189279, 20102668, 21655260, 22588665, 24339136, 31111773, 31649298		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11884470, 26503956		★☆☆☆☆ Found in Text Mining only
Schizoaffective disorder, bipolar type	Schizoaffective Disorder	BEFREE	17192894		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10206241, 10394470, 10618013, 10813805, 11803513, 11803515, 11803532, 12399955, 12450949, 12685995, 1450287, 14569275, 15038993, 15100704, 15465979, 15531077, 15625200, 16469942, 16843094, 16876141, 17012698, 17014995, 17113175, 17192894, 17349863, 17448448, 17475740, 17604606, 1798824, 18056246, 18545269, 18762587, 19961902, 20102668, 20363872, 20382002, 22048129, 22705363, 22981153, 23318559, 23598060, 23910792, 24339136, 25464917, 26441157, 27315458, 27825784, 28606770, 28661580, 29202656, 30790597, 30862179, 30920339, 30974230, 31353068, 31536946, 31649298, 31780341, 31803031, 8094267, 8399828, 8873294, 9012828		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22408080		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	16219794		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	17040605		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	38143368	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	28218388, 31019235		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG	28749478		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2	Spinal Muscular Atrophy With Congenital Bone Fractures	GENOMICS_ENGLAND_DG	28749478		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2	Spinal Muscular Atrophy With Congenital Bone Fractures	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2	Spinal Muscular Atrophy With Congenital Bone Fractures	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26435503		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	30250646		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
Steroid-sensitive nephrotic syndrome	Steroid-Sensitive Nephrotic Syndrome	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	19395464		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	28471449		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24526373, 30014762		★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	29588321		★☆☆☆☆ Found in Text Mining only
Ulcer of esophagus	Ulcer Of Esophagus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	9928378		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	30225173		★☆☆☆☆ Found in Text Mining only