RBM20 (RNA binding motif protein 20)

Gene

• Entrez ID: 282996
• Gene name: RNA binding motif protein 20
• Gene symbol: RBM20
• Synonyms (NCBI Gene): -
• Chromosome: 10
• Chromosome location: 10q25.2
• Summary: This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61735272	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs76048624	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs77110978	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs116908219	G>A	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs147356378	C>A,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, missense variant
rs183007628	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs183130427	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, missense variant
rs187423999	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs200271618	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201047984	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs201148126	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201370621	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign	Coding sequence variant, missense variant
rs267607001	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs267607002	C>A,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs267607003	C>A,G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs267607004	G>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs267607005	A>G	Pathogenic	Coding sequence variant, missense variant
rs372064165	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs372567331	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs372923744	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516607	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516616	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs397516618	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516621	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs540014314	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs554690506	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs563762318	G>A	Likely-pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs727504763	CC>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs727504859	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs727505310	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs747880281	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs753102653	C>A,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs762069628	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs794729143	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs794729144	C>T	Pathogenic	Stop gained, coding sequence variant
rs794729145	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs794729148	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794729149	G>A	Pathogenic	Coding sequence variant, missense variant
rs794729159	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs796734066	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs986602724	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1114167331	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1265727354	G>T	Likely-pathogenic	Splice acceptor variant
rs1554898987	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1564664312	T>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038341	hsa-miR-296-3p	CLASH	23622248
MIRT622516	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT622515	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622507	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT622506	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT640893	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640892	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT622516	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT622515	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622507	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT622506	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT640893	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640892	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT640891	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT622516	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT622515	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622516	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT622515	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622507	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT622506	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT513720	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT513719	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT513718	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT513717	hsa-miR-4295	PAR-CLIP	22012620
MIRT513716	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT513715	hsa-miR-3666	PAR-CLIP	22012620
MIRT513714	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT513713	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT513712	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT513711	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT513710	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT513709	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT513708	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT513707	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT513706	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT513705	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT513704	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT513703	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT513702	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT513701	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT513700	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT513699	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT513697	hsa-miR-4789-3p	PAR-CLIP	22012620
MIRT513698	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT513695	hsa-miR-5680	PAR-CLIP	22012620
MIRT513720	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT513719	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT513718	hsa-miR-301a-3p	PAR-CLIP	23446348
MIRT513717	hsa-miR-4295	PAR-CLIP	23446348
MIRT513716	hsa-miR-454-3p	PAR-CLIP	23446348
MIRT513715	hsa-miR-3666	PAR-CLIP	23446348
MIRT513714	hsa-miR-130b-3p	PAR-CLIP	23446348
MIRT513713	hsa-miR-130a-3p	PAR-CLIP	23446348
MIRT513712	hsa-miR-301b-3p	PAR-CLIP	23446348
MIRT513711	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT513710	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT513709	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT513708	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT513707	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT513706	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT513705	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT513704	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT513703	hsa-miR-548az-5p	PAR-CLIP	23446348
MIRT513702	hsa-miR-548t-5p	PAR-CLIP	23446348
MIRT513701	hsa-miR-519a-3p	PAR-CLIP	23446348
MIRT513700	hsa-miR-519b-3p	PAR-CLIP	23446348
MIRT513699	hsa-miR-519c-3p	PAR-CLIP	23446348
MIRT513697	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT513698	hsa-miR-376c-3p	PAR-CLIP	23446348
MIRT513695	hsa-miR-5680	PAR-CLIP	23446348
MIRT622516	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT622515	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622507	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT622506	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT640893	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640892	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT622516	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT622515	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622507	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT622506	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT640893	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640892	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT640891	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT622516	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT622515	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622516	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT622515	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT622514	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT622513	hsa-miR-1976	HITS-CLIP	23824327
MIRT622512	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT622511	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622510	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622509	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT622508	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622507	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT622506	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT513720	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT513719	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT513718	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT513717	hsa-miR-4295	PAR-CLIP	22012620
MIRT513716	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT513715	hsa-miR-3666	PAR-CLIP	22012620
MIRT513714	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT513713	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT513712	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT513711	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT513710	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT513709	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT513708	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT513707	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT513706	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT513705	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT513704	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT513703	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT513702	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT513701	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT513700	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT513699	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT513697	hsa-miR-4789-3p	PAR-CLIP	22012620
MIRT513698	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT513695	hsa-miR-5680	PAR-CLIP	22012620
MIRT513720	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT513719	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT513718	hsa-miR-301a-3p	PAR-CLIP	23446348
MIRT513717	hsa-miR-4295	PAR-CLIP	23446348
MIRT513716	hsa-miR-454-3p	PAR-CLIP	23446348
MIRT513715	hsa-miR-3666	PAR-CLIP	23446348
MIRT513714	hsa-miR-130b-3p	PAR-CLIP	23446348
MIRT513713	hsa-miR-130a-3p	PAR-CLIP	23446348
MIRT513712	hsa-miR-301b-3p	PAR-CLIP	23446348
MIRT513711	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT513710	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT513709	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT513708	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT513707	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT513706	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT513705	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT513704	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT513703	hsa-miR-548az-5p	PAR-CLIP	23446348
MIRT513702	hsa-miR-548t-5p	PAR-CLIP	23446348
MIRT513701	hsa-miR-519a-3p	PAR-CLIP	23446348
MIRT513700	hsa-miR-519b-3p	PAR-CLIP	23446348
MIRT513699	hsa-miR-519c-3p	PAR-CLIP	23446348
MIRT513697	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT513698	hsa-miR-376c-3p	PAR-CLIP	23446348
MIRT513695	hsa-miR-5680	PAR-CLIP	23446348
MIRT1295253	hsa-miR-1197	CLIP-seq
MIRT1295254	hsa-miR-1290	CLIP-seq
MIRT1295255	hsa-miR-129-5p	CLIP-seq
MIRT1295256	hsa-miR-141	CLIP-seq
MIRT1295257	hsa-miR-147	CLIP-seq
MIRT1295258	hsa-miR-1470	CLIP-seq
MIRT1295259	hsa-miR-15a	CLIP-seq
MIRT1295260	hsa-miR-15b	CLIP-seq
MIRT1295261	hsa-miR-16	CLIP-seq
MIRT1295262	hsa-miR-1915	CLIP-seq
MIRT1295263	hsa-miR-195	CLIP-seq
MIRT1295264	hsa-miR-198	CLIP-seq
MIRT1295265	hsa-miR-200a	CLIP-seq
MIRT1295266	hsa-miR-200b	CLIP-seq
MIRT1295267	hsa-miR-200c	CLIP-seq
MIRT1295268	hsa-miR-203	CLIP-seq
MIRT1295269	hsa-miR-217	CLIP-seq
MIRT1295270	hsa-miR-298	CLIP-seq
MIRT1295271	hsa-miR-3122	CLIP-seq
MIRT1295272	hsa-miR-3125	CLIP-seq
MIRT1295273	hsa-miR-3163	CLIP-seq
MIRT1295274	hsa-miR-3167	CLIP-seq
MIRT1295275	hsa-miR-33a	CLIP-seq
MIRT1295276	hsa-miR-33b	CLIP-seq
MIRT1295277	hsa-miR-3605-5p	CLIP-seq
MIRT1295278	hsa-miR-3614-3p	CLIP-seq
MIRT1295279	hsa-miR-3646	CLIP-seq
MIRT1295280	hsa-miR-3647-3p	CLIP-seq
MIRT1295281	hsa-miR-3662	CLIP-seq
MIRT1295282	hsa-miR-3675-3p	CLIP-seq
MIRT1295283	hsa-miR-3688-3p	CLIP-seq
MIRT1295284	hsa-miR-3689a-3p	CLIP-seq
MIRT1295285	hsa-miR-3689c	CLIP-seq
MIRT1295286	hsa-miR-374c	CLIP-seq
MIRT1295287	hsa-miR-3913-5p	CLIP-seq
MIRT1295288	hsa-miR-3916	CLIP-seq
MIRT1295289	hsa-miR-424	CLIP-seq
MIRT1295290	hsa-miR-4283	CLIP-seq
MIRT1295291	hsa-miR-4287	CLIP-seq
MIRT1295292	hsa-miR-4289	CLIP-seq
MIRT1295293	hsa-miR-429	CLIP-seq
MIRT1295294	hsa-miR-4311	CLIP-seq
MIRT1295295	hsa-miR-4418	CLIP-seq
MIRT1295296	hsa-miR-4469	CLIP-seq
MIRT1295297	hsa-miR-4524	CLIP-seq
MIRT1295298	hsa-miR-4659a-5p	CLIP-seq
MIRT1295299	hsa-miR-4659b-5p	CLIP-seq
MIRT1295300	hsa-miR-4667-3p	CLIP-seq
MIRT1295301	hsa-miR-4668-3p	CLIP-seq
MIRT1295302	hsa-miR-4685-3p	CLIP-seq
MIRT1295303	hsa-miR-4726-3p	CLIP-seq
MIRT1295304	hsa-miR-4760-3p	CLIP-seq
MIRT1295305	hsa-miR-4776-3p	CLIP-seq
MIRT1295306	hsa-miR-4782-5p	CLIP-seq
MIRT1295307	hsa-miR-494	CLIP-seq
MIRT1295308	hsa-miR-497	CLIP-seq
MIRT1295309	hsa-miR-503	CLIP-seq
MIRT1295310	hsa-miR-509-3-5p	CLIP-seq
MIRT1295311	hsa-miR-509-5p	CLIP-seq
MIRT1295312	hsa-miR-522	CLIP-seq
MIRT1295313	hsa-miR-548aa	CLIP-seq
MIRT1295314	hsa-miR-548ad	CLIP-seq
MIRT1295315	hsa-miR-548m	CLIP-seq
MIRT1295316	hsa-miR-587	CLIP-seq
MIRT1295317	hsa-miR-605	CLIP-seq
MIRT1295318	hsa-miR-646	CLIP-seq
MIRT1295319	hsa-miR-655	CLIP-seq
MIRT1295320	hsa-miR-664	CLIP-seq
MIRT1295321	hsa-miR-876-5p	CLIP-seq
MIRT1295322	hsa-miR-922	CLIP-seq
MIRT2087734	hsa-miR-103a	CLIP-seq
MIRT2087735	hsa-miR-107	CLIP-seq
MIRT2087736	hsa-miR-1228	CLIP-seq
MIRT2087737	hsa-miR-1253	CLIP-seq
MIRT2087738	hsa-miR-125a-5p	CLIP-seq
MIRT2087739	hsa-miR-125b	CLIP-seq
MIRT2087740	hsa-miR-1301	CLIP-seq
MIRT1295259	hsa-miR-15a	CLIP-seq
MIRT1295260	hsa-miR-15b	CLIP-seq
MIRT1295261	hsa-miR-16	CLIP-seq
MIRT1295263	hsa-miR-195	CLIP-seq
MIRT2087741	hsa-miR-2113	CLIP-seq
MIRT2087742	hsa-miR-214	CLIP-seq
MIRT1295270	hsa-miR-298	CLIP-seq
MIRT2087743	hsa-miR-3133	CLIP-seq
MIRT2087744	hsa-miR-3200-3p	CLIP-seq
MIRT2087745	hsa-miR-3611	CLIP-seq
MIRT2087746	hsa-miR-3619-5p	CLIP-seq
MIRT2087747	hsa-miR-3940-5p	CLIP-seq
MIRT2087748	hsa-miR-3943	CLIP-seq
MIRT1295289	hsa-miR-424	CLIP-seq
MIRT2087749	hsa-miR-4251	CLIP-seq
MIRT2087750	hsa-miR-4259	CLIP-seq
MIRT2087751	hsa-miR-4291	CLIP-seq
MIRT2087752	hsa-miR-4319	CLIP-seq
MIRT2087753	hsa-miR-4324	CLIP-seq
MIRT2087754	hsa-miR-4450	CLIP-seq
MIRT2087755	hsa-miR-4507	CLIP-seq
MIRT1295297	hsa-miR-4524	CLIP-seq
MIRT2087756	hsa-miR-4732-3p	CLIP-seq
MIRT1295308	hsa-miR-497	CLIP-seq
MIRT1295309	hsa-miR-503	CLIP-seq
MIRT2087757	hsa-miR-5047	CLIP-seq
MIRT2087758	hsa-miR-629	CLIP-seq
MIRT1295318	hsa-miR-646	CLIP-seq
MIRT2087759	hsa-miR-670	CLIP-seq
MIRT2087760	hsa-miR-758	CLIP-seq
MIRT2087761	hsa-miR-761	CLIP-seq
MIRT1295322	hsa-miR-922	CLIP-seq
MIRT2087734	hsa-miR-103a	CLIP-seq
MIRT2087735	hsa-miR-107	CLIP-seq
MIRT2312615	hsa-miR-1226	CLIP-seq
MIRT2312616	hsa-miR-1229	CLIP-seq
MIRT2312617	hsa-miR-1288	CLIP-seq
MIRT2087740	hsa-miR-1301	CLIP-seq
MIRT1295257	hsa-miR-147	CLIP-seq
MIRT1295259	hsa-miR-15a	CLIP-seq
MIRT1295260	hsa-miR-15b	CLIP-seq
MIRT1295261	hsa-miR-16	CLIP-seq
MIRT1295262	hsa-miR-1915	CLIP-seq
MIRT1295263	hsa-miR-195	CLIP-seq
MIRT1295270	hsa-miR-298	CLIP-seq
MIRT2312618	hsa-miR-3135	CLIP-seq
MIRT2312619	hsa-miR-3155	CLIP-seq
MIRT2312620	hsa-miR-3155b	CLIP-seq
MIRT2312621	hsa-miR-3169	CLIP-seq
MIRT2312622	hsa-miR-3182	CLIP-seq
MIRT2087744	hsa-miR-3200-3p	CLIP-seq
MIRT2312623	hsa-miR-342-3p	CLIP-seq
MIRT2312624	hsa-miR-345	CLIP-seq
MIRT2312625	hsa-miR-3613-3p	CLIP-seq
MIRT2312626	hsa-miR-3664-5p	CLIP-seq
MIRT1295282	hsa-miR-3675-3p	CLIP-seq
MIRT1295283	hsa-miR-3688-3p	CLIP-seq
MIRT1295289	hsa-miR-424	CLIP-seq
MIRT2312627	hsa-miR-4267	CLIP-seq
MIRT2312628	hsa-miR-4270	CLIP-seq
MIRT1295292	hsa-miR-4289	CLIP-seq
MIRT2312629	hsa-miR-4417	CLIP-seq
MIRT1295295	hsa-miR-4418	CLIP-seq
MIRT2312630	hsa-miR-4441	CLIP-seq
MIRT2087754	hsa-miR-4450	CLIP-seq
MIRT1295297	hsa-miR-4524	CLIP-seq
MIRT2312631	hsa-miR-4652-3p	CLIP-seq
MIRT2312632	hsa-miR-4667-5p	CLIP-seq
MIRT2312633	hsa-miR-4700-5p	CLIP-seq
MIRT2312634	hsa-miR-4717-3p	CLIP-seq
MIRT2312635	hsa-miR-4731-5p	CLIP-seq
MIRT2087756	hsa-miR-4732-3p	CLIP-seq
MIRT2312636	hsa-miR-4733-3p	CLIP-seq
MIRT2312637	hsa-miR-484	CLIP-seq
MIRT1295308	hsa-miR-497	CLIP-seq
MIRT1295309	hsa-miR-503	CLIP-seq
MIRT2087757	hsa-miR-5047	CLIP-seq
MIRT1295310	hsa-miR-509-3-5p	CLIP-seq
MIRT1295311	hsa-miR-509-5p	CLIP-seq
MIRT2312638	hsa-miR-512-5p	CLIP-seq
MIRT1295316	hsa-miR-587	CLIP-seq
MIRT1295318	hsa-miR-646	CLIP-seq
MIRT2312639	hsa-miR-873	CLIP-seq
MIRT1295322	hsa-miR-922	CLIP-seq
MIRT2087737	hsa-miR-1253	CLIP-seq
MIRT2087738	hsa-miR-125a-5p	CLIP-seq
MIRT2087739	hsa-miR-125b	CLIP-seq
MIRT1295259	hsa-miR-15a	CLIP-seq
MIRT1295260	hsa-miR-15b	CLIP-seq
MIRT1295261	hsa-miR-16	CLIP-seq
MIRT1295263	hsa-miR-195	CLIP-seq
MIRT2087741	hsa-miR-2113	CLIP-seq
MIRT2087745	hsa-miR-3611	CLIP-seq
MIRT2087747	hsa-miR-3940-5p	CLIP-seq
MIRT1295289	hsa-miR-424	CLIP-seq
MIRT2087749	hsa-miR-4251	CLIP-seq
MIRT2087750	hsa-miR-4259	CLIP-seq
MIRT2087752	hsa-miR-4319	CLIP-seq
MIRT2087753	hsa-miR-4324	CLIP-seq
MIRT2087755	hsa-miR-4507	CLIP-seq
MIRT2087756	hsa-miR-4732-3p	CLIP-seq
MIRT1295308	hsa-miR-497	CLIP-seq
MIRT2087758	hsa-miR-629	CLIP-seq
MIRT2087759	hsa-miR-670	CLIP-seq
MIRT2087760	hsa-miR-758	CLIP-seq
MIRT1295259	hsa-miR-15a	CLIP-seq
MIRT1295260	hsa-miR-15b	CLIP-seq
MIRT1295261	hsa-miR-16	CLIP-seq
MIRT1295263	hsa-miR-195	CLIP-seq
MIRT1295289	hsa-miR-424	CLIP-seq
MIRT1295308	hsa-miR-497	CLIP-seq
MIRT2465952	hsa-miR-3143	CLIP-seq
MIRT2465953	hsa-miR-3661	CLIP-seq
MIRT2465954	hsa-miR-4421	CLIP-seq
MIRT2465955	hsa-miR-4693-3p	CLIP-seq
MIRT2465956	hsa-miR-502-5p	CLIP-seq
MIRT2465957	hsa-miR-543	CLIP-seq
MIRT2465958	hsa-miR-631	CLIP-seq
MIRT2608995	hsa-miR-4286	CLIP-seq
MIRT2087751	hsa-miR-4291	CLIP-seq
MIRT2608996	hsa-miR-4476	CLIP-seq
MIRT2608997	hsa-miR-4493	CLIP-seq
MIRT2608998	hsa-miR-4758-3p	CLIP-seq
MIRT2608999	hsa-miR-545	CLIP-seq
MIRT2689436	hsa-miR-1343	CLIP-seq
MIRT1295264	hsa-miR-198	CLIP-seq
MIRT2689437	hsa-miR-3179	CLIP-seq
MIRT2689438	hsa-miR-378g	CLIP-seq
MIRT2689439	hsa-miR-3921	CLIP-seq
MIRT2608995	hsa-miR-4286	CLIP-seq
MIRT2087751	hsa-miR-4291	CLIP-seq
MIRT2608996	hsa-miR-4476	CLIP-seq
MIRT2608997	hsa-miR-4493	CLIP-seq
MIRT2689440	hsa-miR-4653-5p	CLIP-seq
MIRT2608998	hsa-miR-4758-3p	CLIP-seq
MIRT2608999	hsa-miR-545	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	ISS
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23886709, 30262925, 32840935, 33188278, 34732726, 35427468
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0033120	Process	Positive regulation of RNA splicing	IEA
GO:0033120	Process	Positive regulation of RNA splicing	IMP	22466703
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	33188278, 34732726, 35427468
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IEA
GO:0043484	Process	Regulation of RNA splicing	IBA
GO:0043484	Process	Regulation of RNA splicing	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IDA	30948719
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IMP	26604136, 27496873, 32840935
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IDA	24960161, 34732726
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IEA
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	ISS
GO:0060914	Process	Heart formation	IDA	30948719
GO:0060914	Process	Heart formation	IEA
GO:0060914	Process	Heart formation	IMP	22466703, 26604136, 27496873, 32840935, 34732726
GO:0097157	Function	Pre-mRNA intronic binding	IDA	24960161, 34732726
GO:0097157	Function	Pre-mRNA intronic binding	IEA
GO:0160091	Process	Spliceosome-depend formation of circular RNA	IDA	27531932
GO:0160091	Process	Spliceosome-depend formation of circular RNA	IEA
GO:1990935	Function	Splicing factor binding	IDA	24960161

Other IDs

• MIM: 613171
• HGNC: 27424
• e!Ensembl: ENSG00000203867

Protein

• UniProt ID: Q5T481
• Protein name: RNA-binding protein 20 (RNA-binding motif protein 20)
• Protein function: RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes encoding key structural proteins involved in cardiac development, such as TTN (Titin), CACNA1C, CAMK2D or PDLIM5/ENH (PubMed:22466703, PubMed:24960161, PubMed:266
• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in the heart (PubMed:19712804, PubMed:23886709). Also expressed in skeletal muscle tissues, ovary, small intestine and colon (PubMed:23886709). {ECO:0000269|PubMed:19712804, ECO:0000269|PubMed:23886709}.
• Sequence:

  MVLAAAMSQDADPSGPEQPDRVACSVPGARASPAPSGPRGMQQPPPPPQPPPPPQAGLPQ
  IIQNAAKLLDKNPFSVSNPNPLLPSPASLQLAQLQAQLTLHRLKLAQTAVTNNTAAATVL
  NQVLSKVAMSQPLFNQLRHPSVITGPHGHAGVPQHAAAIPSTRFPSNAIAFSPPSQTRGP
  GPSMNLPNQPPSAMVMHPFTGVMPQTPGQPAVILGIGKTGPAPATAGFYEYGKASSGQTY
  GPETDGQPGFLPSSASTSGSVTYEGHYSHTGQDGQAAFSKDFYGPNSQGSHVASGFPAEQ
  AGGLKSEVGPLLQGTNSQWESPHGFSGQSKPDLTAGPMWPPPHNQPYELYDPEEPTSDRT
  PPSFGGRLNNSKQGFIGAGRRAKEDQALLSVRPLQAHELNDFHGVAPLHLPHICSICDKK
  VFDLKDWELHVKGKLHAQKCLVFSENAGIRCILGSAEGTLCASPNSTAVYNPAGNEDYAS
  NLGTSYVPIPARSFTQSSPTFPLASVGTTFAQRKGAGRVVHICNLPEGSCTENDVINLGL
  PFGKVTNYILMKSTNQAFLEMAYTEAAQAMVQYYQEKSAVINGEKLLIRMSKRYKELQLK
  KPGKAVAAIIQDIHSQRERDMFREADRYGPERPRSRSPVSRSLSPRSHTPSFTSCSSSHS
  PPGPSRADWGNGRDSWEHSPYARREEERDPAPWRDNGDDKRDRMDPWAHDRKHHPRQLDK
  AELDERPEGGRPHREKYPRSGSPNLPHSVSSYKSREDGYYRKEPKAKWDKYLKQQQDAPG
  RSRRKDEARLRESRHPHPDDSGKEDGLGPKVTRAPEGAKAKQNEKNKTKRTDRDQEGADD
  RKENTMAENEAGKEEQEGMEESPQSVGRQEKEAEFSDPENTRTKKEQDWESESEAEGESW
  YPTNMEELVTVDEVGEEEDFIVEPDIPELEEIVPIDQKDKICPETCLCVTTTLDLDLAQD
  FPKEGVKAVGNGAAEISLKSPRELPSASTSCPSDMDVEMPGLNLDAERKPAESETGLSLE
  DSDCYEKEAKGVESSDVHPAPTVQQMSSPKPAEERARQPSPFVDDCKTRGTPEDGACEGS
  PLEEKASPPIETDLQNQACQEVLTPENSRYVEMKSLEVRSPEYTEVELKQPLSLPSWEPE
  DVFSELSIPLGVEFVVPRTGFYCKLCGLFYTSEETAKMSHCRSAVHYRNLQKYLSQLAEE
  GLKETEGADSPRPEDSGIVPRFERKKL

• Sequence length: 1227

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
Cardiomyopathy	Likely pathogenic; Pathogenic	rs267607004, rs2493472844, rs397516607	RCV000852423 RCV003487255 RCV000769275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs267607003, rs267607001, rs267607002, rs267607004, rs796734066, rs397516607	RCV000619200 RCV002408443 RCV003338375 RCV002408444 RCV002411511 RCV002408510 RCV002433499 RCV002409006	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1A	Pathogenic	rs267607003	RCV001256960	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1DD	Likely pathogenic; Pathogenic	rs2135050138, rs267607003, rs267607001, rs267607002, rs267607004, rs2493493297, rs2493409912, rs2493412820, rs796734066, rs1554898987, rs397516607, rs1844915022	RCV002077359 RCV000000292 RCV000000293 RCV000000294 RCV000000295 RCV003049556 RCV003855880 RCV004595070 RCV004595077 RCV000472655 RCV000624264 RCV000170520 RCV000647156 RCV001195647	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1S	Pathogenic; Likely pathogenic	rs267607003, rs1114167331	RCV000490927 RCV000491360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Likely pathogenic; Pathogenic	rs397516607	RCV002054621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs2135078982, rs267607003, rs267607002, rs267607004, rs397516607, rs267607001	RCV001376077 RCV000211851 RCV000208477 RCV000157430 RCV005625225 RCV000036973 RCV000850340	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary familial dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs267607002, rs267607004	RCV005237341 RCV000622325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RBM20-related disorder	Pathogenic; Likely pathogenic	rs267607003, rs267607004	RCV003407245 RCV004751187	★★★★☆ 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
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrest	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1DD	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DILATED CARDIOMYOPATHY	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy and peripheral neuropathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary valve stenosis (rare)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sudden unexplained death in epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation, paroxysmal familial, type 1	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	34732726	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	33450993, 34333030, 37593875	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	28767663, 30871351, 33450993	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	38404225	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	22004663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	22004663, 30061737	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring syndrome	Bohring syndrome	Pubtator	32969603	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac Conduction System Disease	Cardiac conduction disease	Pubtator	20590677	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19712804, 22466703, 30547036, 30871351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	19712804, 30871351, 33260757, 33450993, 34273561, 37967257	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19712804, 20590677, 22004663, 23861363, 26458567, 27105042, 28098235, 30871351, 31583969, 32041989, 32697997, 32905764, 32969603, 33450993, 33941202, 33947203, 34011823, 34244519, 34333030, 34732726, 35527250, 36129056, 37593875, 38141360, 38404225	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	33450993, 35893073	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34333030, 39971408	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	28098235	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	19712804, 20590677, 22004663, 22466703, 22561820, 23861363, 26604136, 27496873		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	27396593, 27496873, 29650543, 30871348, 30871351, 31419596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1DD	Cardiomyopathy	CLINVAR_DG	19712804, 20590677, 21483645, 22004663, 2204663, 22466703, 23861363, 23886709, 24503780, 26084686, 26604136, 27496873		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1DD	Cardiomyopathy	UNIPROT_DG	19712804, 20590677, 21846512, 22466703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1DD	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27532257, 30482687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1DD	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22004663, 24960161, 26458567, 26604136, 27496873, 28098235, 28941705, 29895960, 30547036, 30871348, 31768884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	28098235		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	33450993	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	24960161		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	37967257	Associate	★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	30611920		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24960161, 27396593, 29725258		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26604136		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	19712804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	19712804, 23861363, 27105042, 30871351, 33941202	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	23861363, 26604136, 27396593, 27496873, 29895960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart Diseases	BEFREE	27396593, 29304022, 30468920, 31614708		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29518215, 34732726	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	20590677, 37593875	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	24960161, 27396593, 29725258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	19712804, 37593875	Associate	★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	29029073		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEOPARD Syndrome	Leopard syndrome	Pubtator	34732726	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	37671549	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	37967257	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	34333030	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29650543, 30871348, 31768884		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	37593875	Associate	★☆☆☆☆ Found in Text Mining only