COL3A1 (collagen type III alpha 1 chain)

Gene

• Entrez ID: 1281
• Gene name: Collagen type III alpha 1 chain
• Gene symbol: COL3A1
• Synonyms (NCBI Gene): EDS4A, EDSVASC, PMGEDSV
• Disease Acronyms (UniProt): EDSVASC, PMGEDSV
• Chromosome: 2
• Chromosome location: 2q32.2
• Summary: This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801183	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs111391222	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, missense variant
rs111505097	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs111840783	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs111929073	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs112371422	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs112456072	G>A	Pathogenic	Coding sequence variant, missense variant
rs112532745	G>T	Pathogenic	Splice donor variant
rs113304344	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs113485686	G>A	Pathogenic	Coding sequence variant, missense variant
rs113871730	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912913	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912914	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912915	G>T	Pathogenic	Coding sequence variant, missense variant
rs121912916	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912917	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912918	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912919	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912920	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912921	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912922	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912923	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912924	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912925	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912926	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs121912927	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs140646380	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs144614075	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146652498	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Intron variant
rs147663769	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149722210	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs193922176	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs201314784	T>C	Likely-pathogenic	Splice donor variant
rs267599120	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs374452484	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs375737772	C>T	Pathogenic	Stop gained, coding sequence variant
rs397509369	G>A	Pathogenic	Coding sequence variant, missense variant
rs397509371	G>T	Pathogenic	Intron variant
rs397509372	G>A,T	Likely-pathogenic, pathogenic	Intron variant
rs397509373	G>A	Pathogenic	Splice donor variant
rs397509374	GGGTGAGAAAGGTGAAGGAGGCCCTCC>-	Pathogenic	Coding sequence variant, inframe deletion
rs397509375	T>A,C	Pathogenic	Intron variant
rs397509376	G>A,T	Pathogenic	Intron variant
rs397509377	->T	Pathogenic	Coding sequence variant, frameshift variant
rs553203474	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779416	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779417	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779418	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779419	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779420	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779421	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779422	G>A	Pathogenic	Intron variant
rs587779423	T>A,C,G	Pathogenic	Intron variant
rs587779424	G>A	Pathogenic	Splice donor variant
rs587779425	AGTGAGTATAGCTGC>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs587779426	T>A,C	Pathogenic	Splice donor variant
rs587779427	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779428	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779429	T>C	Pathogenic	Splice donor variant
rs587779431	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779432	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779433	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779434	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779435	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779436	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779437	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779438	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587779439	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779440	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779441	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779442	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779443	G>A,T	Pathogenic	Splice donor variant
rs587779444	G>A,C,T	Pathogenic	Splice donor variant
rs587779445	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779446	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779447	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779448	G>A	Pathogenic	Intron variant
rs587779449	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779450	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779451	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779452	G>T	Pathogenic	Intron variant
rs587779454	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779455	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779456	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779457	G>A,T	Pathogenic	Intron variant
rs587779458	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779460	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779461	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs587779462	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779463	G>A	Pathogenic	Splice donor variant
rs587779464	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779465	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779466	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779467	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs587779468	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779469	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779470	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779471	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779472	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779473	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779474	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779475	ACCAGTAA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs587779477	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779478	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779479	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779480	G>A,C	Pathogenic	Splice donor variant
rs587779481	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779482	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779483	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779484	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779486	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779487	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779488	G>T	Pathogenic	Stop gained, coding sequence variant
rs587779490	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779491	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779492	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779493	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779494	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779495	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587779497	T>A,G	Pathogenic	Splice donor variant
rs587779498	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587779499	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779501	G>A	Pathogenic	Intron variant
rs587779502	A>G,T	Pathogenic	Splice acceptor variant
rs587779503	T>C,G	Pathogenic	Splice donor variant
rs587779504	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779505	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779506	G>A	Pathogenic	Splice donor variant
rs587779507	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779508	G>C	Pathogenic	Splice donor variant
rs587779509	GCTCCCGGTCCTGCTGGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779510	GTGCTCC>TAAG	Pathogenic	Coding sequence variant, inframe indel
rs587779511	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779512	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779513	T>C	Pathogenic	Splice donor variant
rs587779514	G>-	Pathogenic	Splice donor variant
rs587779515	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779516	G>A	Pathogenic	Splice donor variant
rs587779517	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779518	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779519	G>A	Pathogenic	Splice acceptor variant
rs587779521	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779522	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779524	->T	Pathogenic	Splice donor variant
rs587779525	AAAGAGGAGAACCTGGAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779526	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779527	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779528	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779529	TTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779530	T>C,G	Pathogenic	Splice donor variant
rs587779531	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779532	T>C	Pathogenic	Intron variant
rs587779533	G>C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779536	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779538	G>A	Pathogenic	Intron variant
rs587779539	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779540	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779541	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779542	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779543	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779544	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779545	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779546	A>C	Pathogenic	Splice acceptor variant
rs587779547	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779548	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779549	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779550	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779551	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779552	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779553	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs587779554	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779555	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779556	G>C	Pathogenic	Splice acceptor variant
rs587779557	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779558	A>G	Pathogenic	Splice acceptor variant
rs587779559	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779560	CCTCCTGGGCCACCTGGTGCTGCTGGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779561	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587779562	G>T	Pathogenic	Splice acceptor variant
rs587779563	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779564	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779565	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs587779566	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779567	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779568	G>A	Pathogenic	Intron variant
rs587779569	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779570	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779571	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779572	->T	Pathogenic	Splice donor variant
rs587779573	G>A,C	Pathogenic	Splice donor variant
rs587779574	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779575	A>G,T	Pathogenic	Splice acceptor variant
rs587779576	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779577	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779578	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779579	->ACCCTGCAG	Pathogenic	Inframe insertion, coding sequence variant
rs587779580	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779581	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779582	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779583	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779585	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779587	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779588	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779589	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779590	TAGTAATGTAAGTA>GACCTGAGAC	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs587779591	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779592	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779593	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779594	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779595	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779596	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779597	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779598	A>T	Pathogenic	Intron variant
rs587779599	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779600	G>C	Pathogenic	Splice donor variant
rs587779601	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779602	A>G	Pathogenic	Splice acceptor variant
rs587779603	T>G	Pathogenic	Splice donor variant
rs587779604	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779605	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779606	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs587779607	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779608	->T	Pathogenic	Stop gained, coding sequence variant
rs587779609	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs587779610	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779611	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779613	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779614	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779615	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779616	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs587779617	G>A	Pathogenic	Splice acceptor variant
rs587779618	T>C	Pathogenic	Stop lost, terminator codon variant
rs587779619	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779620	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779622	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779623	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779624	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779625	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587779626	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779627	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779628	->ACCTGGGCAAGCTGG	Pathogenic	Inframe insertion, coding sequence variant
rs587779629	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779630	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779634	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779635	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779638	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779639	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779640	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs587779641	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779642	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779643	G>A,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs587779644	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779645	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779646	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779647	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779648	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779649	T>A	Pathogenic	Splice donor variant
rs587779650	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779651	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779652	G>A	Pathogenic, not-provided	Splice donor variant
rs587779653	->C	Pathogenic	Coding sequence variant, frameshift variant
rs587779654	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779655	GCTCGGGGTAATGACGGTGC>TTTACATCGAGGGTTTTAAAGTTTACA	Pathogenic	Coding sequence variant, frameshift variant
rs587779656	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779657	GCCACCTGGTGCTGCTGGTACTCCTGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779658	A>T	Pathogenic	Missense variant, coding sequence variant
rs587779659	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779660	G>A	Pathogenic	Splice donor variant
rs587779661	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779662	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779663	G>A	Pathogenic	Splice donor variant
rs587779664	G>A,C	Pathogenic	Splice donor variant
rs587779666	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779668	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779669	GC>AA	Pathogenic	Missense variant, coding sequence variant
rs587779670	A>C,G	Pathogenic	Intron variant
rs587779671	G>A,T	Pathogenic, likely-pathogenic	Intron variant
rs587779672	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779673	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587779674	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779675	G>C	Pathogenic	Splice donor variant
rs587779676	G>A	Pathogenic	Splice donor variant
rs587779678	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779680	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779681	CCTTCAGTAAGT>TACTAAATATA	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs587779682	A>G	Likely-pathogenic	Splice acceptor variant
rs587779683	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779684	T>C	Pathogenic	Splice donor variant
rs587779685	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779686	GAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779687	G>C	Pathogenic	Splice acceptor variant
rs587779688	G>A	Pathogenic	Intron variant
rs587779689	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779690	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779691	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587779694	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779695	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779696	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779697	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779698	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779699	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779700	TCCCAGGGTC>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs587779703	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779704	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs587779705	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779706	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779708	G>A,T	Pathogenic	Splice acceptor variant
rs587779709	G>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs587779710	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779711	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779712	->AGGG	Pathogenic	Coding sequence variant, frameshift variant
rs587779713	A>G,T	Pathogenic	Intron variant
rs587779714	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779715	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779716	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779717	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779718	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779719	TT>-	Pathogenic	Stop gained, coding sequence variant
rs587779720	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779722	A>G	Pathogenic	Splice acceptor variant
rs587779723	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs746358771	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs755528878	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs766750333	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs771654029	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs772827388	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs776819930	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs777361888	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs779774302	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs786200946	TAAG>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs794727586	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs794728038	G>A,C	Likely-pathogenic, uncertain-significance	Intron variant
rs794728039	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728040	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs794728049	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728050	A>G	Pathogenic	Splice acceptor variant
rs794728051	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728054	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728055	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728057	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs794728059	GGGTCAAATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728060	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs863224860	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs869312034	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs878853651	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886038892	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886038920	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886038925	GT>AA	Pathogenic	Coding sequence variant, missense variant
rs886055332	A>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1057518372	G>A	Pathogenic	Splice donor variant
rs1057521106	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057521930	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057523593	A>C	Likely-pathogenic	Splice acceptor variant
rs1060500187	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060500193	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1060500203	G>T	Pathogenic	Missense variant, coding sequence variant
rs1064796468	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796733	G>C	Likely-pathogenic	Splice acceptor variant
rs1085307896	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307964	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1173194734	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1333421028	C>T	Pathogenic	Stop gained, coding sequence variant
rs1393544920	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553507180	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553507249	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553507265	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553507274	G>T	Pathogenic	Coding sequence variant, missense variant
rs1553507345	GC>AA	Likely-pathogenic	Coding sequence variant, missense variant
rs1553507557	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553507574	A>G	Likely-pathogenic	Splice acceptor variant
rs1553507614	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553507793	->TA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553508231	GAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553508238	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553508338	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553508473	G>A	Risk-factor	Coding sequence variant, missense variant
rs1553508544	G>A,C	Uncertain-significance, likely-pathogenic	Intron variant
rs1553508957	A>C	Pathogenic	Splice acceptor variant
rs1553509187	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509208	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553509391	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509397	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509404	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509430	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553509630	AG>-	Pathogenic	Intron variant
rs1553509726	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553509744	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509869	GAAGAAA>TT	Pathogenic	Frameshift variant, coding sequence variant
rs1553509934	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553510000	G>T	Pathogenic	Stop gained, coding sequence variant
rs1559053784	GTATAGC>ACA	Pathogenic	Intron variant
rs1559054653	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1559055162	AG>-	Pathogenic	Intron variant
rs1559057346	AG>-	Pathogenic	Intron variant
rs1559058482	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559058551	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559058970	G>A	Likely-pathogenic	Splice donor variant
rs1559059873	CAGGGTG>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1559060412	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559061242	GG>AC	Pathogenic	Coding sequence variant, missense variant
rs1559061674	TTGTTCACAGG>GT	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1559061706	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1559061954	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559063681	A>G	Likely-pathogenic	Splice acceptor variant
rs1576463100	A>G	Pathogenic	Splice acceptor variant
rs1576463632	G>A	Pathogenic	Coding sequence variant, missense variant
rs1576463663	G>T	Pathogenic	Coding sequence variant, missense variant
rs1576467133	GGGAC>AG	Likely-pathogenic	Inframe indel, coding sequence variant
rs1576467144	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1576467391	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576468160	AGGGGC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1576468332	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1576468385	G>A	Likely-pathogenic	Splice donor variant
rs1576468562	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1576470032	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1576471840	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1576472890	CTCCTGGCAAAGATGGAACCAGTGGAC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1576473641	G>T	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT005567	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	20657750
MIRT005567	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	20657750
MIRT018299	hsa-miR-335-5p	Microarray	18185580
MIRT000927	hsa-miR-29c-3p	Reporter assay;Other	18390668
MIRT037808	hsa-miR-455-3p	CLASH	23622248
MIRT005567	hsa-miR-29b-3p	Microarray	22942087
MIRT054120	hsa-let-7b-5p	Luciferase reporter assay, Microarray, qRT-PCR	22995917
MIRT028683	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT005567	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT005567	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437563	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT438362	hsa-miR-143-3p	In situ hybridization, qRT-PCR, Western blot	24283360
MIRT438362	hsa-miR-143-3p	In situ hybridization, qRT-PCR, Western blot	24283360
MIRT028683	hsa-miR-29a-3p	Next Generation Sequencing (NGS), qRT-PCR, Western blot	26199111
MIRT000927	hsa-miR-29c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	26453978
MIRT005567	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT005567	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT734990	hsa-let-7e-3p	qRT-PCR	33066614
MIRT028683	hsa-miR-29a-3p	Luciferase reporter assay, Western blotting, Microarray, Immunofluorescence, qRT-PCR	31694982
MIRT902767	hsa-let-7a	CLIP-seq
MIRT902768	hsa-let-7b	CLIP-seq
MIRT902769	hsa-let-7c	CLIP-seq
MIRT902770	hsa-let-7d	CLIP-seq
MIRT902771	hsa-let-7e	CLIP-seq
MIRT902772	hsa-let-7f	CLIP-seq
MIRT902773	hsa-let-7g	CLIP-seq
MIRT902774	hsa-let-7i	CLIP-seq
MIRT902775	hsa-miR-196a	CLIP-seq
MIRT902776	hsa-miR-196b	CLIP-seq
MIRT902777	hsa-miR-202	CLIP-seq
MIRT902778	hsa-miR-3145-3p	CLIP-seq
MIRT902779	hsa-miR-4458	CLIP-seq
MIRT902780	hsa-miR-4500	CLIP-seq
MIRT902781	hsa-miR-4517	CLIP-seq
MIRT902782	hsa-miR-4795-3p	CLIP-seq
MIRT902783	hsa-miR-590-3p	CLIP-seq
MIRT902784	hsa-miR-889	CLIP-seq
MIRT902785	hsa-miR-98	CLIP-seq
MIRT902767	hsa-let-7a	CLIP-seq
MIRT902768	hsa-let-7b	CLIP-seq
MIRT902769	hsa-let-7c	CLIP-seq
MIRT902770	hsa-let-7d	CLIP-seq
MIRT902771	hsa-let-7e	CLIP-seq
MIRT902772	hsa-let-7f	CLIP-seq
MIRT902773	hsa-let-7g	CLIP-seq
MIRT902774	hsa-let-7i	CLIP-seq
MIRT1546912	hsa-miR-128	CLIP-seq
MIRT1546913	hsa-miR-1321	CLIP-seq
MIRT1546914	hsa-miR-154	CLIP-seq
MIRT1546915	hsa-miR-186	CLIP-seq
MIRT902775	hsa-miR-196a	CLIP-seq
MIRT902776	hsa-miR-196b	CLIP-seq
MIRT902777	hsa-miR-202	CLIP-seq
MIRT1546916	hsa-miR-29a	CLIP-seq
MIRT1546917	hsa-miR-29b	CLIP-seq
MIRT1546918	hsa-miR-29c	CLIP-seq
MIRT1546919	hsa-miR-3119	CLIP-seq
MIRT1546920	hsa-miR-3158-3p	CLIP-seq
MIRT1546921	hsa-miR-3159	CLIP-seq
MIRT1546922	hsa-miR-3162-5p	CLIP-seq
MIRT1546923	hsa-miR-3163	CLIP-seq
MIRT1546924	hsa-miR-3182	CLIP-seq
MIRT1546925	hsa-miR-3192	CLIP-seq
MIRT1546926	hsa-miR-3199	CLIP-seq
MIRT1546927	hsa-miR-323-3p	CLIP-seq
MIRT1546928	hsa-miR-323b-3p	CLIP-seq
MIRT1546929	hsa-miR-3609	CLIP-seq
MIRT1546930	hsa-miR-3614-3p	CLIP-seq
MIRT1546931	hsa-miR-3663-3p	CLIP-seq
MIRT1546932	hsa-miR-3672	CLIP-seq
MIRT1546933	hsa-miR-376a	CLIP-seq
MIRT1546934	hsa-miR-376b	CLIP-seq
MIRT1546935	hsa-miR-3942-3p	CLIP-seq
MIRT1546936	hsa-miR-410	CLIP-seq
MIRT1546937	hsa-miR-4256	CLIP-seq
MIRT1546938	hsa-miR-4263	CLIP-seq
MIRT1546939	hsa-miR-4282	CLIP-seq
MIRT1546940	hsa-miR-4297	CLIP-seq
MIRT1546941	hsa-miR-4314	CLIP-seq
MIRT902779	hsa-miR-4458	CLIP-seq
MIRT1546942	hsa-miR-4461	CLIP-seq
MIRT1546943	hsa-miR-4474-3p	CLIP-seq
MIRT902780	hsa-miR-4500	CLIP-seq
MIRT1546944	hsa-miR-452	CLIP-seq
MIRT1546945	hsa-miR-4646-5p	CLIP-seq
MIRT1546946	hsa-miR-4676-3p	CLIP-seq
MIRT1546947	hsa-miR-4721	CLIP-seq
MIRT1546948	hsa-miR-4728-5p	CLIP-seq
MIRT1546949	hsa-miR-4735-5p	CLIP-seq
MIRT1546950	hsa-miR-4739	CLIP-seq
MIRT1546951	hsa-miR-4756-5p	CLIP-seq
MIRT1546952	hsa-miR-4762-3p	CLIP-seq
MIRT902782	hsa-miR-4795-3p	CLIP-seq
MIRT1546953	hsa-miR-518d-5p	CLIP-seq
MIRT1546954	hsa-miR-519b-5p	CLIP-seq
MIRT1546955	hsa-miR-519c-5p	CLIP-seq
MIRT1546956	hsa-miR-520c-5p	CLIP-seq
MIRT1546957	hsa-miR-526a	CLIP-seq
MIRT1546958	hsa-miR-548ah	CLIP-seq
MIRT1546959	hsa-miR-548k	CLIP-seq
MIRT1546960	hsa-miR-548n	CLIP-seq
MIRT1546961	hsa-miR-548t	CLIP-seq
MIRT1546962	hsa-miR-576-5p	CLIP-seq
MIRT1546963	hsa-miR-583	CLIP-seq
MIRT902785	hsa-miR-98	CLIP-seq
MIRT1546924	hsa-miR-3182	CLIP-seq
MIRT1546925	hsa-miR-3192	CLIP-seq
MIRT1546926	hsa-miR-3199	CLIP-seq
MIRT1546933	hsa-miR-376a	CLIP-seq
MIRT1546934	hsa-miR-376b	CLIP-seq
MIRT1546941	hsa-miR-4314	CLIP-seq
MIRT1546945	hsa-miR-4646-5p	CLIP-seq
MIRT2203557	hsa-miR-219-2-3p	CLIP-seq
MIRT2203558	hsa-miR-2964a-3p	CLIP-seq
MIRT2203559	hsa-miR-4422	CLIP-seq
MIRT2203560	hsa-miR-4452	CLIP-seq
MIRT902767	hsa-let-7a	CLIP-seq
MIRT902768	hsa-let-7b	CLIP-seq
MIRT902769	hsa-let-7c	CLIP-seq
MIRT902770	hsa-let-7d	CLIP-seq
MIRT902771	hsa-let-7e	CLIP-seq
MIRT902772	hsa-let-7f	CLIP-seq
MIRT902773	hsa-let-7g	CLIP-seq
MIRT902774	hsa-let-7i	CLIP-seq
MIRT2427499	hsa-miR-1184	CLIP-seq
MIRT2427500	hsa-miR-1205	CLIP-seq
MIRT2427501	hsa-miR-1252	CLIP-seq
MIRT2427502	hsa-miR-1276	CLIP-seq
MIRT1546912	hsa-miR-128	CLIP-seq
MIRT2427503	hsa-miR-129-5p	CLIP-seq
MIRT2427504	hsa-miR-1305	CLIP-seq
MIRT1546913	hsa-miR-1321	CLIP-seq
MIRT1546914	hsa-miR-154	CLIP-seq
MIRT1546915	hsa-miR-186	CLIP-seq
MIRT2427505	hsa-miR-192	CLIP-seq
MIRT902775	hsa-miR-196a	CLIP-seq
MIRT902776	hsa-miR-196b	CLIP-seq
MIRT902777	hsa-miR-202	CLIP-seq
MIRT2427506	hsa-miR-203	CLIP-seq
MIRT2427507	hsa-miR-2113	CLIP-seq
MIRT2427508	hsa-miR-215	CLIP-seq
MIRT2203557	hsa-miR-219-2-3p	CLIP-seq
MIRT2203558	hsa-miR-2964a-3p	CLIP-seq
MIRT1546916	hsa-miR-29a	CLIP-seq
MIRT1546917	hsa-miR-29b	CLIP-seq
MIRT1546918	hsa-miR-29c	CLIP-seq
MIRT2427509	hsa-miR-300	CLIP-seq
MIRT2427510	hsa-miR-3065-5p	CLIP-seq
MIRT2427511	hsa-miR-3115	CLIP-seq
MIRT1546919	hsa-miR-3119	CLIP-seq
MIRT2427512	hsa-miR-3120-3p	CLIP-seq
MIRT2427513	hsa-miR-3125	CLIP-seq
MIRT2427514	hsa-miR-3146	CLIP-seq
MIRT2427515	hsa-miR-3147	CLIP-seq
MIRT2427516	hsa-miR-3148	CLIP-seq
MIRT1546920	hsa-miR-3158-3p	CLIP-seq
MIRT2427517	hsa-miR-3158-5p	CLIP-seq
MIRT1546921	hsa-miR-3159	CLIP-seq
MIRT1546922	hsa-miR-3162-5p	CLIP-seq
MIRT1546923	hsa-miR-3163	CLIP-seq
MIRT2427518	hsa-miR-3165	CLIP-seq
MIRT2427519	hsa-miR-3167	CLIP-seq
MIRT1546924	hsa-miR-3182	CLIP-seq
MIRT2427520	hsa-miR-3189-5p	CLIP-seq
MIRT1546925	hsa-miR-3192	CLIP-seq
MIRT2427521	hsa-miR-3194-3p	CLIP-seq
MIRT1546926	hsa-miR-3199	CLIP-seq
MIRT1546927	hsa-miR-323-3p	CLIP-seq
MIRT1546928	hsa-miR-323b-3p	CLIP-seq
MIRT2427522	hsa-miR-33a	CLIP-seq
MIRT2427523	hsa-miR-33b	CLIP-seq
MIRT2427524	hsa-miR-3607-3p	CLIP-seq
MIRT1546929	hsa-miR-3609	CLIP-seq
MIRT2427525	hsa-miR-3613-3p	CLIP-seq
MIRT1546930	hsa-miR-3614-3p	CLIP-seq
MIRT2427526	hsa-miR-3614-5p	CLIP-seq
MIRT2427527	hsa-miR-3616-5p	CLIP-seq
MIRT2427528	hsa-miR-3647-5p	CLIP-seq
MIRT2427529	hsa-miR-3659	CLIP-seq
MIRT1546931	hsa-miR-3663-3p	CLIP-seq
MIRT1546932	hsa-miR-3672	CLIP-seq
MIRT2427530	hsa-miR-3673	CLIP-seq
MIRT2427531	hsa-miR-3686	CLIP-seq
MIRT1546933	hsa-miR-376a	CLIP-seq
MIRT1546934	hsa-miR-376b	CLIP-seq
MIRT2427532	hsa-miR-381	CLIP-seq
MIRT2427533	hsa-miR-3916	CLIP-seq
MIRT2427534	hsa-miR-3928	CLIP-seq
MIRT1546935	hsa-miR-3942-3p	CLIP-seq
MIRT2427535	hsa-miR-3978	CLIP-seq
MIRT1546936	hsa-miR-410	CLIP-seq
MIRT2427536	hsa-miR-421	CLIP-seq
MIRT1546937	hsa-miR-4256	CLIP-seq
MIRT1546938	hsa-miR-4263	CLIP-seq
MIRT1546939	hsa-miR-4282	CLIP-seq
MIRT1546940	hsa-miR-4297	CLIP-seq
MIRT2427537	hsa-miR-4299	CLIP-seq
MIRT2427538	hsa-miR-4311	CLIP-seq
MIRT1546941	hsa-miR-4314	CLIP-seq
MIRT2427539	hsa-miR-4317	CLIP-seq
MIRT2427540	hsa-miR-4323	CLIP-seq
MIRT2427541	hsa-miR-4325	CLIP-seq
MIRT2203559	hsa-miR-4422	CLIP-seq
MIRT2427542	hsa-miR-4424	CLIP-seq
MIRT2427543	hsa-miR-4425	CLIP-seq
MIRT2427544	hsa-miR-4427	CLIP-seq
MIRT2203560	hsa-miR-4452	CLIP-seq
MIRT2427545	hsa-miR-4455	CLIP-seq
MIRT902779	hsa-miR-4458	CLIP-seq
MIRT1546942	hsa-miR-4461	CLIP-seq
MIRT1546943	hsa-miR-4474-3p	CLIP-seq
MIRT902780	hsa-miR-4500	CLIP-seq
MIRT2427546	hsa-miR-4502	CLIP-seq
MIRT2427547	hsa-miR-450b-3p	CLIP-seq
MIRT1546944	hsa-miR-452	CLIP-seq
MIRT1546945	hsa-miR-4646-5p	CLIP-seq
MIRT2427548	hsa-miR-4653-3p	CLIP-seq
MIRT2427549	hsa-miR-4666-3p	CLIP-seq
MIRT2427550	hsa-miR-4670-3p	CLIP-seq
MIRT1546946	hsa-miR-4676-3p	CLIP-seq
MIRT2427551	hsa-miR-4680-3p	CLIP-seq
MIRT2427552	hsa-miR-4684-5p	CLIP-seq
MIRT2427553	hsa-miR-4700-3p	CLIP-seq
MIRT2427554	hsa-miR-4710	CLIP-seq
MIRT1546947	hsa-miR-4721	CLIP-seq
MIRT1546948	hsa-miR-4728-5p	CLIP-seq
MIRT2427555	hsa-miR-4729	CLIP-seq
MIRT1546949	hsa-miR-4735-5p	CLIP-seq
MIRT1546950	hsa-miR-4739	CLIP-seq
MIRT1546951	hsa-miR-4756-5p	CLIP-seq
MIRT1546952	hsa-miR-4762-3p	CLIP-seq
MIRT2427556	hsa-miR-4768-3p	CLIP-seq
MIRT2427557	hsa-miR-4773	CLIP-seq
MIRT2427558	hsa-miR-4789-3p	CLIP-seq
MIRT2427559	hsa-miR-4792	CLIP-seq
MIRT902782	hsa-miR-4795-3p	CLIP-seq
MIRT2427560	hsa-miR-4802-5p	CLIP-seq
MIRT2427561	hsa-miR-487a	CLIP-seq
MIRT2427562	hsa-miR-505	CLIP-seq
MIRT2427563	hsa-miR-5095	CLIP-seq
MIRT2427564	hsa-miR-513a-3p	CLIP-seq
MIRT1546953	hsa-miR-518d-5p	CLIP-seq
MIRT1546954	hsa-miR-519b-5p	CLIP-seq
MIRT1546955	hsa-miR-519c-5p	CLIP-seq
MIRT1546956	hsa-miR-520c-5p	CLIP-seq
MIRT2427565	hsa-miR-520d-5p	CLIP-seq
MIRT2427566	hsa-miR-524-5p	CLIP-seq
MIRT1546957	hsa-miR-526a	CLIP-seq
MIRT2427567	hsa-miR-545	CLIP-seq
MIRT1546958	hsa-miR-548ah	CLIP-seq
MIRT2427568	hsa-miR-548c-3p	CLIP-seq
MIRT1546959	hsa-miR-548k	CLIP-seq
MIRT1546960	hsa-miR-548n	CLIP-seq
MIRT2427569	hsa-miR-548p	CLIP-seq
MIRT1546961	hsa-miR-548t	CLIP-seq
MIRT2427570	hsa-miR-563	CLIP-seq
MIRT2427571	hsa-miR-573	CLIP-seq
MIRT1546962	hsa-miR-576-5p	CLIP-seq
MIRT2427572	hsa-miR-582-3p	CLIP-seq
MIRT1546963	hsa-miR-583	CLIP-seq
MIRT2427573	hsa-miR-609	CLIP-seq
MIRT2427574	hsa-miR-616	CLIP-seq
MIRT2427575	hsa-miR-648	CLIP-seq
MIRT2427576	hsa-miR-653	CLIP-seq
MIRT2427577	hsa-miR-659	CLIP-seq
MIRT2427578	hsa-miR-665	CLIP-seq
MIRT2427579	hsa-miR-769-3p	CLIP-seq
MIRT2427580	hsa-miR-876-5p	CLIP-seq
MIRT902785	hsa-miR-98	CLIP-seq
MIRT2427506	hsa-miR-203	CLIP-seq
MIRT2427520	hsa-miR-3189-5p	CLIP-seq
MIRT1546931	hsa-miR-3663-3p	CLIP-seq
MIRT2427530	hsa-miR-3673	CLIP-seq
MIRT2427540	hsa-miR-4323	CLIP-seq
MIRT1546963	hsa-miR-583	CLIP-seq
MIRT2427577	hsa-miR-659	CLIP-seq
MIRT1546930	hsa-miR-3614-3p	CLIP-seq
MIRT1546940	hsa-miR-4297	CLIP-seq
MIRT902767	hsa-let-7a	CLIP-seq
MIRT902768	hsa-let-7b	CLIP-seq
MIRT902769	hsa-let-7c	CLIP-seq
MIRT902770	hsa-let-7d	CLIP-seq
MIRT902771	hsa-let-7e	CLIP-seq
MIRT902772	hsa-let-7f	CLIP-seq
MIRT902773	hsa-let-7g	CLIP-seq
MIRT902774	hsa-let-7i	CLIP-seq
MIRT2427501	hsa-miR-1252	CLIP-seq
MIRT1546913	hsa-miR-1321	CLIP-seq
MIRT2427505	hsa-miR-192	CLIP-seq
MIRT902775	hsa-miR-196a	CLIP-seq
MIRT902776	hsa-miR-196b	CLIP-seq
MIRT902777	hsa-miR-202	CLIP-seq
MIRT2427506	hsa-miR-203	CLIP-seq
MIRT2427507	hsa-miR-2113	CLIP-seq
MIRT2427508	hsa-miR-215	CLIP-seq
MIRT2203557	hsa-miR-219-2-3p	CLIP-seq
MIRT2203558	hsa-miR-2964a-3p	CLIP-seq
MIRT1546916	hsa-miR-29a	CLIP-seq
MIRT1546917	hsa-miR-29b	CLIP-seq
MIRT1546918	hsa-miR-29c	CLIP-seq
MIRT2427510	hsa-miR-3065-5p	CLIP-seq
MIRT1546919	hsa-miR-3119	CLIP-seq
MIRT2427512	hsa-miR-3120-3p	CLIP-seq
MIRT2427514	hsa-miR-3146	CLIP-seq
MIRT2506547	hsa-miR-3150b-3p	CLIP-seq
MIRT1546920	hsa-miR-3158-3p	CLIP-seq
MIRT1546922	hsa-miR-3162-5p	CLIP-seq
MIRT2427518	hsa-miR-3165	CLIP-seq
MIRT2506548	hsa-miR-3173-3p	CLIP-seq
MIRT2427520	hsa-miR-3189-5p	CLIP-seq
MIRT1546926	hsa-miR-3199	CLIP-seq
MIRT1546927	hsa-miR-323-3p	CLIP-seq
MIRT1546928	hsa-miR-323b-3p	CLIP-seq
MIRT2506549	hsa-miR-331-3p	CLIP-seq
MIRT2427522	hsa-miR-33a	CLIP-seq
MIRT2427523	hsa-miR-33b	CLIP-seq
MIRT1546929	hsa-miR-3609	CLIP-seq
MIRT2427525	hsa-miR-3613-3p	CLIP-seq
MIRT1546930	hsa-miR-3614-3p	CLIP-seq
MIRT2506550	hsa-miR-3622b-5p	CLIP-seq
MIRT1546931	hsa-miR-3663-3p	CLIP-seq
MIRT2427530	hsa-miR-3673	CLIP-seq
MIRT2506551	hsa-miR-3688-5p	CLIP-seq
MIRT1546933	hsa-miR-376a	CLIP-seq
MIRT1546934	hsa-miR-376b	CLIP-seq
MIRT2427535	hsa-miR-3978	CLIP-seq
MIRT1546937	hsa-miR-4256	CLIP-seq
MIRT1546938	hsa-miR-4263	CLIP-seq
MIRT1546940	hsa-miR-4297	CLIP-seq
MIRT2427538	hsa-miR-4311	CLIP-seq
MIRT2427540	hsa-miR-4323	CLIP-seq
MIRT2203559	hsa-miR-4422	CLIP-seq
MIRT2427544	hsa-miR-4427	CLIP-seq
MIRT2203560	hsa-miR-4452	CLIP-seq
MIRT902779	hsa-miR-4458	CLIP-seq
MIRT1546943	hsa-miR-4474-3p	CLIP-seq
MIRT902780	hsa-miR-4500	CLIP-seq
MIRT2427546	hsa-miR-4502	CLIP-seq
MIRT2506552	hsa-miR-4504	CLIP-seq
MIRT1546944	hsa-miR-452	CLIP-seq
MIRT2427549	hsa-miR-4666-3p	CLIP-seq
MIRT1546946	hsa-miR-4676-3p	CLIP-seq
MIRT2427551	hsa-miR-4680-3p	CLIP-seq
MIRT2427552	hsa-miR-4684-5p	CLIP-seq
MIRT2427553	hsa-miR-4700-3p	CLIP-seq
MIRT1546947	hsa-miR-4721	CLIP-seq
MIRT1546948	hsa-miR-4728-5p	CLIP-seq
MIRT2427555	hsa-miR-4729	CLIP-seq
MIRT1546949	hsa-miR-4735-5p	CLIP-seq
MIRT1546950	hsa-miR-4739	CLIP-seq
MIRT1546951	hsa-miR-4756-5p	CLIP-seq
MIRT1546952	hsa-miR-4762-3p	CLIP-seq
MIRT2506553	hsa-miR-4784	CLIP-seq
MIRT2427562	hsa-miR-505	CLIP-seq
MIRT2427563	hsa-miR-5095	CLIP-seq
MIRT1546953	hsa-miR-518d-5p	CLIP-seq
MIRT1546954	hsa-miR-519b-5p	CLIP-seq
MIRT1546955	hsa-miR-519c-5p	CLIP-seq
MIRT1546956	hsa-miR-520c-5p	CLIP-seq
MIRT1546957	hsa-miR-526a	CLIP-seq
MIRT2506554	hsa-miR-542-3p	CLIP-seq
MIRT2427567	hsa-miR-545	CLIP-seq
MIRT1546958	hsa-miR-548ah	CLIP-seq
MIRT2427568	hsa-miR-548c-3p	CLIP-seq
MIRT1546959	hsa-miR-548k	CLIP-seq
MIRT1546960	hsa-miR-548n	CLIP-seq
MIRT2427569	hsa-miR-548p	CLIP-seq
MIRT1546961	hsa-miR-548t	CLIP-seq
MIRT1546962	hsa-miR-576-5p	CLIP-seq
MIRT1546963	hsa-miR-583	CLIP-seq
MIRT2427575	hsa-miR-648	CLIP-seq
MIRT2427576	hsa-miR-653	CLIP-seq
MIRT2427577	hsa-miR-659	CLIP-seq
MIRT2506555	hsa-miR-765	CLIP-seq
MIRT902785	hsa-miR-98	CLIP-seq
MIRT902767	hsa-let-7a	CLIP-seq
MIRT902768	hsa-let-7b	CLIP-seq
MIRT902769	hsa-let-7c	CLIP-seq
MIRT902770	hsa-let-7d	CLIP-seq
MIRT902771	hsa-let-7e	CLIP-seq
MIRT902772	hsa-let-7f	CLIP-seq
MIRT902773	hsa-let-7g	CLIP-seq
MIRT902774	hsa-let-7i	CLIP-seq
MIRT2427499	hsa-miR-1184	CLIP-seq
MIRT2427500	hsa-miR-1205	CLIP-seq
MIRT2427501	hsa-miR-1252	CLIP-seq
MIRT2427502	hsa-miR-1276	CLIP-seq
MIRT1546912	hsa-miR-128	CLIP-seq
MIRT1546913	hsa-miR-1321	CLIP-seq
MIRT1546914	hsa-miR-154	CLIP-seq
MIRT2427505	hsa-miR-192	CLIP-seq
MIRT902775	hsa-miR-196a	CLIP-seq
MIRT902776	hsa-miR-196b	CLIP-seq
MIRT902777	hsa-miR-202	CLIP-seq
MIRT2427506	hsa-miR-203	CLIP-seq
MIRT2427507	hsa-miR-2113	CLIP-seq
MIRT2427508	hsa-miR-215	CLIP-seq
MIRT2203557	hsa-miR-219-2-3p	CLIP-seq
MIRT2203558	hsa-miR-2964a-3p	CLIP-seq
MIRT1546916	hsa-miR-29a	CLIP-seq
MIRT1546917	hsa-miR-29b	CLIP-seq
MIRT1546918	hsa-miR-29c	CLIP-seq
MIRT2427510	hsa-miR-3065-5p	CLIP-seq
MIRT1546919	hsa-miR-3119	CLIP-seq
MIRT2427512	hsa-miR-3120-3p	CLIP-seq
MIRT2427514	hsa-miR-3146	CLIP-seq
MIRT2506547	hsa-miR-3150b-3p	CLIP-seq
MIRT1546920	hsa-miR-3158-3p	CLIP-seq
MIRT2427517	hsa-miR-3158-5p	CLIP-seq
MIRT1546922	hsa-miR-3162-5p	CLIP-seq
MIRT2427518	hsa-miR-3165	CLIP-seq
MIRT2506548	hsa-miR-3173-3p	CLIP-seq
MIRT2427520	hsa-miR-3189-5p	CLIP-seq
MIRT2427521	hsa-miR-3194-3p	CLIP-seq
MIRT1546927	hsa-miR-323-3p	CLIP-seq
MIRT1546928	hsa-miR-323b-3p	CLIP-seq
MIRT2506549	hsa-miR-331-3p	CLIP-seq
MIRT2427522	hsa-miR-33a	CLIP-seq
MIRT2427523	hsa-miR-33b	CLIP-seq
MIRT1546929	hsa-miR-3609	CLIP-seq
MIRT2427525	hsa-miR-3613-3p	CLIP-seq
MIRT1546930	hsa-miR-3614-3p	CLIP-seq
MIRT2427527	hsa-miR-3616-5p	CLIP-seq
MIRT2506550	hsa-miR-3622b-5p	CLIP-seq
MIRT2427528	hsa-miR-3647-5p	CLIP-seq
MIRT2427529	hsa-miR-3659	CLIP-seq
MIRT1546931	hsa-miR-3663-3p	CLIP-seq
MIRT1546932	hsa-miR-3672	CLIP-seq
MIRT2427530	hsa-miR-3673	CLIP-seq
MIRT2506551	hsa-miR-3688-5p	CLIP-seq
MIRT1546933	hsa-miR-376a	CLIP-seq
MIRT1546934	hsa-miR-376b	CLIP-seq
MIRT2678406	hsa-miR-3908	CLIP-seq
MIRT1546935	hsa-miR-3942-3p	CLIP-seq
MIRT2427535	hsa-miR-3978	CLIP-seq
MIRT1546937	hsa-miR-4256	CLIP-seq
MIRT1546938	hsa-miR-4263	CLIP-seq
MIRT1546940	hsa-miR-4297	CLIP-seq
MIRT2427537	hsa-miR-4299	CLIP-seq
MIRT2427538	hsa-miR-4311	CLIP-seq
MIRT2427539	hsa-miR-4317	CLIP-seq
MIRT2427540	hsa-miR-4323	CLIP-seq
MIRT2203559	hsa-miR-4422	CLIP-seq
MIRT2427544	hsa-miR-4427	CLIP-seq
MIRT2203560	hsa-miR-4452	CLIP-seq
MIRT902779	hsa-miR-4458	CLIP-seq
MIRT1546942	hsa-miR-4461	CLIP-seq
MIRT1546943	hsa-miR-4474-3p	CLIP-seq
MIRT902780	hsa-miR-4500	CLIP-seq
MIRT2427546	hsa-miR-4502	CLIP-seq
MIRT2506552	hsa-miR-4504	CLIP-seq
MIRT1546944	hsa-miR-452	CLIP-seq
MIRT2427549	hsa-miR-4666-3p	CLIP-seq
MIRT2427550	hsa-miR-4670-3p	CLIP-seq
MIRT1546946	hsa-miR-4676-3p	CLIP-seq
MIRT2427551	hsa-miR-4680-3p	CLIP-seq
MIRT2427552	hsa-miR-4684-5p	CLIP-seq
MIRT2427553	hsa-miR-4700-3p	CLIP-seq
MIRT2427554	hsa-miR-4710	CLIP-seq
MIRT1546947	hsa-miR-4721	CLIP-seq
MIRT1546948	hsa-miR-4728-5p	CLIP-seq
MIRT2427555	hsa-miR-4729	CLIP-seq
MIRT1546949	hsa-miR-4735-5p	CLIP-seq
MIRT1546950	hsa-miR-4739	CLIP-seq
MIRT1546951	hsa-miR-4756-5p	CLIP-seq
MIRT1546952	hsa-miR-4762-3p	CLIP-seq
MIRT2506553	hsa-miR-4784	CLIP-seq
MIRT2427559	hsa-miR-4792	CLIP-seq
MIRT902782	hsa-miR-4795-3p	CLIP-seq
MIRT2427561	hsa-miR-487a	CLIP-seq
MIRT2427562	hsa-miR-505	CLIP-seq
MIRT2427563	hsa-miR-5095	CLIP-seq
MIRT1546953	hsa-miR-518d-5p	CLIP-seq
MIRT1546954	hsa-miR-519b-5p	CLIP-seq
MIRT1546955	hsa-miR-519c-5p	CLIP-seq
MIRT1546956	hsa-miR-520c-5p	CLIP-seq
MIRT1546957	hsa-miR-526a	CLIP-seq
MIRT2506554	hsa-miR-542-3p	CLIP-seq
MIRT2427567	hsa-miR-545	CLIP-seq
MIRT1546958	hsa-miR-548ah	CLIP-seq
MIRT2427568	hsa-miR-548c-3p	CLIP-seq
MIRT1546959	hsa-miR-548k	CLIP-seq
MIRT1546960	hsa-miR-548n	CLIP-seq
MIRT2427569	hsa-miR-548p	CLIP-seq
MIRT1546961	hsa-miR-548t	CLIP-seq
MIRT2427571	hsa-miR-573	CLIP-seq
MIRT1546962	hsa-miR-576-5p	CLIP-seq
MIRT2427572	hsa-miR-582-3p	CLIP-seq
MIRT1546963	hsa-miR-583	CLIP-seq
MIRT2427574	hsa-miR-616	CLIP-seq
MIRT2678407	hsa-miR-634	CLIP-seq
MIRT2427575	hsa-miR-648	CLIP-seq
MIRT2427576	hsa-miR-653	CLIP-seq
MIRT2427577	hsa-miR-659	CLIP-seq
MIRT2506555	hsa-miR-765	CLIP-seq
MIRT902785	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0002020	Function	Protease binding	IPI	19932771
GO:0005178	Function	Integrin binding	IMP	9573018
GO:0005178	Function	Integrin binding	NAS	14970208
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	IMP	7487954, 9036918
GO:0005515	Function	Protein binding	IPI	2839553, 16754721, 16912226, 20015075, 28258187
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005586	Component	Collagen type III trimer	IDA	19932771
GO:0005586	Component	Collagen type III trimer	IMP	7487954, 17576241
GO:0005586	Component	Collagen type III trimer	NAS	1672129
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	7487954
GO:0005615	Component	Extracellular space	NAS	9036918
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007160	Process	Cell-matrix adhesion	IDA	16912226
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	16360482
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	14970208
GO:0007507	Process	Heart development	IMP	7546986
GO:0009314	Process	Response to radiation	IDA	14736764
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0018149	Process	Peptide cross-linking	IDA	16754721
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 27559042, 28327460, 28675934
GO:0030168	Process	Platelet activation	NAS	9573018
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030199	Process	Collagen fibril organization	IMP	7546986, 9036918
GO:0030199	Process	Collagen fibril organization	NAS	1672129
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0034097	Process	Response to cytokine	IDA	9076960, 16360482
GO:0035025	Process	Positive regulation of Rho protein signal transduction	ISS
GO:0042060	Process	Wound healing	IDA	1466622
GO:0042060	Process	Wound healing	NAS	14736764
GO:0043588	Process	Skin development	IMP	9036918
GO:0046872	Function	Metal ion binding	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0050776	Process	Regulation of immune response	TAS
GO:0050777	Process	Negative regulation of immune response	IMP	16754721
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 27559042, 28327460, 28344315, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	IMP	7487954, 14970208
GO:0062023	Component	Collagen-containing extracellular matrix	TAS	22261194
GO:0097435	Process	Supramolecular fiber organization	IMP	14970208
GO:2001223	Process	Negative regulation of neuron migration	ISS

Other IDs

• MIM: 120180
• HGNC: 2201
• e!Ensembl: ENSG00000168542

Protein

• UniProt ID: P02461
• Protein name: Collagen alpha-1(III) chain
• Protein function: Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and acti
• PDB: 2V53, 3DMW, 4AE2, 4AEJ, 4AK3, 4GYX, 6FZV, 6FZW, 7WWR, 7WWS, 7XAN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00093	VWC	32 → 88	von Willebrand factor type C domain	Family
  PF01391	Collagen	167 → 233	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	294 → 368	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	354 → 413	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	474 → 533	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	533 → 593	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	954 → 1026	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1077 → 1136	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1137 → 1196	Collagen triple helix repeat (20 copies)	Repeat
  PF01410	COLFI	1230 → 1465	Fibrillar collagen C-terminal domain	Family

• Sequence:

  MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSV
  LCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRN
  GDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPG
  PPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPG
  ERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMG
  PRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPG
  SNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAG
  ANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPG
  AAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPG
  SPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPG
  GPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPG
  PKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAG
  TPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKG
  EGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPG
  VAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPG
  KDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAG
  PPGMPGPRGSPGPQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDG
  LPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAG
  SRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRG
  PVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGV
  GAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPAR
  NCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSS
  AEKKHVWFGESMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMD
  QASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLP
  IVDIAPYDIGGPDQEFGVDVGPVCFL

• Sequence length: 1466

Associated diseases

Unknown
Disease term	Disease name	Evidence	References	Source
Ehlers-Danlos Syndrome	autosomal dominant Ehlers-Danlos syndrome, vascular type, polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, vascular type			GenCC
Uterine Fibroids	Uterine Fibroids			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Coronary Syndrome	Associate	12149201
Adenocarcinoma	Associate	32255255, 33371142, 36148899
Adenocarcinoma of Lung	Associate	30106131
Adenoma	Associate	30175151
Alzheimer Disease	Associate	33083483
Anemia Diamond Blackfan	Associate	26258650
Aneurysm	Associate	2243125
Aneurysm False	Associate	9546243
Aneurysm Ruptured	Associate	11577371
Angina Stable	Associate	12149201
Aortic Aneurysm	Associate	2243125, 2349939, 8514866
Aortic Aneurysm Abdominal	Associate	26017485
Aortic Aneurysm Familial Abdominal 1	Associate	26017485
Aortic Aneurysm Familial Thoracic 1	Associate	2243125, 2349939, 26017485, 29510914, 36189931
Aortic Aneurysm Thoracic	Associate	37776192
Aortic Diseases	Associate	39239969
Aortic Dissection	Associate	20648054, 25205403, 26497932, 33083483, 35078481, 40533124
Aortic Dissection	Inhibit	37042257
Aortic Rupture	Associate	2243125
Arachnoiditis	Associate	39755217
Atherosclerosis	Associate	35534923
Atrial Fibrillation	Stimulate	34332113
Biliary Atresia	Associate	36930067
Bowen's Disease	Associate	36085041
Brain Death	Associate	34226255
Brain Ischemia	Stimulate	23582094
Brain Neoplasms	Associate	31888563
Breast Neoplasms	Associate	34541602, 35296631, 38187400
Cancer Pain	Associate	28911071
Carcinogenesis	Associate	33035117
Carcinoma Basal Cell	Associate	3361139
Carcinoma Ovarian Epithelial	Associate	31533654
Carcinoma Pancreatic Ductal	Associate	31731384
Carcinoma Renal Cell	Associate	33828127
Carcinoma Squamous Cell	Associate	36085041
Cardiomyopathy Dilated	Associate	36725968
Cardiovascular Diseases	Associate	25371518, 37776192
Carotid Artery Internal Dissection	Associate	22713205
Carotid Stenosis	Associate	27017522
Cavitary Optic Disc Anomalies	Associate	32471395
Cerebrovascular Disorders	Associate	29346445
Clubfoot	Associate	25205403
Colitis Ulcerative	Associate	31584460
Collagen Diseases	Associate	19420820
Colorectal Neoplasms	Associate	32356618, 32945508, 33277910, 37816854
Connective Tissue Diseases	Associate	30675029, 34939946, 35964930, 36103205
Contusions	Associate	31353273
Coronary Artery Disease	Associate	12149201
Coronary Artery Dissection Spontaneous	Associate	33125268, 35092149, 36103205, 40194966
Death	Associate	12149201, 25205403, 30999998
Death Sudden	Associate	34845833
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	20648054
Dermatomyositis	Associate	40140985
Diabetes Mellitus Type 2	Associate	25371518, 35271662
Diabetic Angiopathies	Associate	17251678
Diabetic Foot	Associate	35964930
Dissection Ascending Aorta	Associate	29510914
Dissection Blood Vessel	Associate	22617347, 26497932, 37776192
Dissection Thoracic Aorta	Associate	31211624, 32199657, 33648514
Down Syndrome	Associate	15716609
Ehlers Danlos Syndrome	Associate	11577371, 14970208, 17251678, 18805790, 19420820, 19455184, 22038052, 2365710, 24650746, 24922459, 25355833, 26017485, 26666608, 26765342, 27799058, 28035354, 3019133, 30837697, 31391389, 33161638, 33974636, 34318601, 35119775, 35205368, 35587586, 35984436, 37776192, 38301384, 40533124, 40598578
Ehlers Danlos syndrome type 1	Associate	20648054
Ehlers Danlos syndrome type 3	Associate	20720362, 21549076, 25205403, 26497932, 35964930
Ehlers Danlos Syndrome Type IV	Associate	10706896, 11168790, 11577371, 11843319, 1496983, 14970208, 16012458, 1672129, 1757960, 17728513, 18272325, 18485758, 1905723, 19420820, 19477391, 1998337, 2002056, 20648054, 20720362, 2145268, 21549076, 21637106, 21782484, 2243125, 22713205, 23234825, 24650746, 2492273, 25205403, 25758994, 26497932, 26666608, 2808425, 28183226, 2834369, 29050841, 29346445, 29381997, 2981879, 30158381, 30474650, 30623691, 30837697, 30999998, 31126764, 31353273, 31391389, 32471395, 33277910, 34226255, 34318601, 34845833, 35699227, 35779834, 35984436, 36046937, 36189931, 37068529, 37461200, 37800821, 37827202, 38301384, 39201504, 39239969, 40598578, 7487954, 7546986, 7665911, 8317500, 8320698, 8411057, 8950675, 9036918, 9399899, 9546243
Ehlers Danlos Syndrome Type VII Autosomal Recessive	Associate	26765342, 3019133
Esophageal Neoplasms	Associate	33280513, 33543230
Esophageal Squamous Cell Carcinoma	Associate	36238478
Esophageal Squamous Cell Carcinoma	Stimulate	38401086
Exfoliation Syndrome	Associate	37108678
Familial Primary Pulmonary Hypertension	Associate	25644172
Fibrosis	Stimulate	31584460
Fibrosis	Associate	33946738, 37690517, 38297310
Fragile X Syndrome	Associate	30837697, 30999998
Gastroesophageal Reflux	Associate	19398442, 37907428
Genetic Diseases Inborn	Associate	7665911
Glaucoma Open Angle	Associate	34348663
Glioblastoma	Associate	27655637, 28191466
Glioma	Stimulate	27655637
Glioma	Associate	31104065, 32757451
Head and Neck Neoplasms	Associate	36039012
Heart Diseases	Associate	35078481
Heart Failure	Associate	35645616
Hemorrhage	Associate	20720362, 33161638, 40598578
Hemorrhagic Disorders	Associate	33161638
Hepatic Veno Occlusive Disease	Associate	21330458
Hernia Hiatal	Associate	19398442
Hernia Inguinal	Associate	7710461
Hypertension Portal	Associate	16718761
Idiopathic Pulmonary Fibrosis	Associate	36012303, 37907428, 39289672
Idiopathic Pulmonary Fibrosis	Stimulate	38117249
Idiopathic subglottic tracheal stenosis	Associate	36524603
Inflammation	Associate	29228930, 35093162
Internal Hernia	Associate	22713205
Intervertebral Disc Degeneration	Associate	32873329
Intervertebral Disc Displacement	Stimulate	36740606
Intracranial Aneurysm	Associate	2349939, 40533124
Ischemia	Associate	12149201
Joint Diseases	Associate	36740606
Joint Instability	Associate	31353273
Kidney Neoplasms	Stimulate	33828127
Kidney Neoplasms	Associate	38187400
Leiomyoma	Associate	26453978, 34116832, 36830563
Liver Cirrhosis	Associate	26415140
Liver Failure	Associate	35726350
Loeys Dietz Syndrome	Associate	35092149, 36103205, 36189931
Lung Diseases	Associate	11843319
Lung Neoplasms	Associate	36148899
Lymphatic Metastasis	Stimulate	31888563
Lymphoma Follicular	Associate	17255358
Lymphoma Large B Cell Diffuse	Associate	16856881
Lymphoma Large B Cell Diffuse	Stimulate	17255358
Marfan Syndrome	Associate	37840311
Melanoma	Associate	35087523
Mitral Valve Prolapse	Associate	31353273
Mouth Neoplasms	Associate	36849997
Multiple Myeloma	Associate	26545722
Musculoskeletal Diseases	Associate	34318601
Myocardial Infarction	Associate	11168790
Myostatin related muscle hypertrophy	Associate	20648054
Nasopharyngeal Carcinoma	Associate	25786138
Neoplasm Metastasis	Associate	33035117, 34229299, 36415513, 38187400
Neoplasm Metastasis	Stimulate	35047627
Neoplasms	Associate	10574251, 23282184, 28911071, 30175151, 31888563, 32687633, 34004031, 34252356, 35956764, 37108678, 37325617, 37626157, 38187400, 38401086
Neoplasms	Stimulate	37800754
Neuroma Acoustic	Associate	34691289
Non alcoholic Fatty Liver Disease	Associate	34419146
Non Muscle Invasive Bladder Neoplasms	Associate	32391563, 33035117
Norrie disease	Inhibit	25749011
Obesity	Associate	34419146
Odontogenic Cysts	Associate	37415178
Osteoarthritis	Associate	27356888, 35093162
Osteogenesis Imperfecta	Associate	8950675
Osteoporosis	Associate	32999266
Osteosarcoma	Associate	30518744
Ovarian Neoplasms	Associate	30142790, 8579116
Pancreatic Neoplasms	Associate	36415513
Pelvic Organ Prolapse	Stimulate	26927240
Pemphigoid Benign Mucous Membrane	Associate	37690517
Pneumonia	Associate	28302172
Pneumothorax	Associate	27229674, 32471395, 37800821
Polymicrogyria	Associate	25205403
Polymicrogyria Bilateral Frontoparietal	Associate	25205403
Prostatic Neoplasms	Associate	32687633, 37108678, 38187400
Protein Deficiency	Associate	11577371
Pterygium	Associate	31341891
Rectal Neoplasms	Associate	28911071, 37816854
Renal Insufficiency Chronic	Associate	31721901
Rupture	Associate	2243125, 29346445, 30643084, 34845833, 35205368, 37776192
Sarcoma Ewing	Associate	35047627
Sarcopenia	Associate	35271662
Shoulder Injuries	Associate	34011391
Skin Diseases	Associate	30837697
Splenic Rupture	Associate	37068529
Spondylolisthesis	Associate	36740606
Squamous Cell Carcinoma of Head and Neck	Associate	31109699, 36039012
Status Asthmaticus	Associate	24875618
Status Asthmaticus	Stimulate	29228930
Stomach Neoplasms	Associate	30948703, 32058995, 32908877, 35739492, 35756405, 36690975, 37800754
Stroke	Associate	12149201, 32106772, 37776192
Thoracic Diseases	Associate	37042257
Thyroid Cancer Papillary	Associate	29967488
Urinary Bladder Neoplasms	Associate	30689556, 30723390, 33035117, 36131343
Vaginitis	Associate	34454465
Vascular System Injuries	Associate	36103205
von Hippel Lindau Disease	Stimulate	33828526
Werner Syndrome	Associate	8496616