Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1281
Gene name	Collagen type III alpha 1 chain
Gene symbol	COL3A1
Synonyms (NCBI Gene)	EDS4AEDSVASCPMGEDSV
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

418

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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

504

Show/Hide all (504)

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 assayqRT-PCRWestern blot	20657750
MIRT005567	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern 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 assayMicroarrayqRT-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 hybridizationqRT-PCRWestern blot	24283360
MIRT438362	hsa-miR-143-3p	In situ hybridizationqRT-PCRWestern blot	24283360
MIRT028683	hsa-miR-29a-3p	Next Generation Sequencing (NGS)qRT-PCRWestern blot	26199111
MIRT000927	hsa-miR-29c-3p	ImmunoblotLuciferase reporter assayqRT-PCRWestern 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 assayWestern blottingMicroarrayImmunofluorescenceqRT-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

Show/Hide all (80)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0002020	Function	Protease binding	IPI	19932771
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0005178	Function	Integrin binding	IMP	9573018
GO:0005178	Function	Integrin binding	NAS	14970208
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IMP	7487954, 9036918
GO:0005515	Function	Protein binding	IPI	2839553, 16754721, 16912226, 19011090, 20015075, 28258187, 32296183
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005583	Component	Fibrillar collagen trimer	IEA
GO:0005586	Component	Collagen type III trimer	IBA
GO:0005586	Component	Collagen type III trimer	IDA	19932771
GO:0005586	Component	Collagen type III trimer	IEA
GO:0005586	Component	Collagen type III trimer	IMP	7487954, 17576241
GO:0005586	Component	Collagen type III trimer	IPI	18805790
GO:0005586	Component	Collagen type III trimer	NAS	1672129
GO:0005615	Component	Extracellular space	IDA	7487954
GO:0005615	Component	Extracellular space	NAS	9036918
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
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:0010467	Process	Gene expression	IEA
GO:0018149	Process	Peptide cross-linking	IDA	16754721
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021987	Process	Cerebral cortex development	IEA
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	IBA
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	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IMP	7546986, 9036918
GO:0030199	Process	Collagen fibril organization	NAS	1672129, 18805790
GO:0030324	Process	Lung development	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	IMP	7487954, 14970208
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0032905	Process	Transforming growth factor beta1 production	IEA
GO:0034097	Process	Response to cytokine	IDA	9076960, 16360482
GO:0035025	Process	Positive regulation of Rho protein signal transduction	IEA
GO:0035025	Process	Positive regulation of Rho protein signal transduction	ISS
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035904	Process	Aorta development	IEA
GO:0036022	Process	Limb joint morphogenesis	IEA
GO:0042060	Process	Wound healing	IDA	1466622
GO:0042060	Process	Wound healing	NAS	14736764
GO:0043588	Process	Skin development	IEA
GO:0043588	Process	Skin development	IMP	9036918
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048513	Process	Animal organ development	IEA
GO:0048565	Process	Digestive tract development	IEA
GO:0048731	Process	System development	IEA
GO:0050777	Process	Negative regulation of immune response	IMP	16754721
GO:0051216	Process	Cartilage development	IEA
GO:0060350	Process	Endochondral bone morphogenesis	IEA
GO:0060414	Process	Aorta smooth muscle tissue morphogenesis	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0097435	Process	Supramolecular fiber organization	IMP	14970208
GO:1990776	Process	Response to angiotensin	IEA
GO:2001223	Process	Negative regulation of neuron migration	IEA
GO:2001223	Process	Negative regulation of neuron migration	ISS

MIM	HGNC	e!Ensembl
120180	2201	ENSG00000168542

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

Interactions

View interactions

	KEGG		Reactome
	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway AGE-RAGE signaling pathway in diabetic complications Protein digestion and absorption Amoebiasis Diabetic cardiomyopathy		Collagen degradation Extracellular matrix organization Collagen biosynthesis and modifying enzymes Signaling by PDGF Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans NCAM1 interactions MET activates PTK2 signaling Collagen chain trimerization

4142

Show/Hide Causal Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aortic dissection	Pathogenic; Likely pathogenic	rs587779451, rs1553507345	RCV005411336 RCV000583742
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs587779451, rs587779715, rs886038925, rs886038920, rs886038892, rs587779704, rs1553508463	RCV005628230 RCV005400702 RCV000252094 RCV000246359 RCV000252013 RCV000590473 RCV005404034
COL3A1-related disorder	Pathogenic; Likely pathogenic	rs587779593, rs587779600, rs587779652, rs587779533, rs587779715, rs2469134005, rs2469143498, rs2469138099, rs397509370, rs121912923	RCV004528787 RCV004529909 RCV000844985 RCV004542805 RCV004529910 RCV004528600 RCV004529355 RCV004536680 RCV004532389 RCV004528122
Congenital aneurysm of ascending aorta	Pathogenic	rs1553508473	RCV000664467
Connective and Soft Tissue Disorder	Likely pathogenic; Pathogenic	rs587779692	RCV005241236
Connective tissue nevi	Pathogenic	rs587779595	RCV000626591
Ehlers-Danlos syndrome	Pathogenic; Likely pathogenic	rs2153502995, rs587779508, rs587779623, rs2153503019, rs587779550, rs2153502168, rs572097661, rs1553507432, rs1688259777	RCV002276721 RCV002277149 RCV002277150 RCV002277983 RCV002277984 RCV002277989 RCV004017969 RCV002279457 RCV001250387
Ehlers-Danlos syndrome, dominant type 4	Pathogenic	rs587779689	RCV004786370
EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT	Pathogenic	rs121912920	RCV000018761
Ehlers-Danlos syndrome, type 3	Likely pathogenic	rs863224860	RCV000195998
Ehlers-Danlos syndrome, type 4	Pathogenic; Likely pathogenic	rs2153501869, rs2153501976, rs2153502163, rs2153502271, rs2153502406, rs2153502447, rs2153503009, rs771791598, rs2153503790, rs2153503949, rs2153502995, rs587779694, rs1460396340, rs587779416, rs587779417 View all (558 more)	RCV001376803 RCV001378708 RCV001377545 RCV001379054 RCV001378557 RCV001379925 RCV001378894 RCV001377514 RCV001378374 RCV001378290 RCV001384794 RCV001390725 RCV001382921 RCV000087338 RCV000087339 RCV000087340 RCV000087341 RCV000087342 RCV000087343 RCV000087344 RCV000087345 RCV000087346 RCV000087347 RCV000087348 RCV000087349 RCV000087350 RCV000087351 RCV000087352 RCV000087353 RCV000087354 RCV000087355 RCV000087356 RCV000087357 RCV000087358 RCV000087359 RCV000087360 RCV000087361 RCV000087362 RCV000087363 RCV000087364 RCV000087365 RCV000087366 RCV000087368 RCV000087369 RCV000087370 RCV000087372 RCV000087373 RCV000087374 RCV000087375 RCV000087376 RCV000087377 RCV000087378 RCV000087379 RCV000087380 RCV000087381 RCV000087382 RCV000087383 RCV000087384 RCV000087385 RCV000087386 RCV000087387 RCV000087388 RCV000087389 RCV000087390 RCV000087391 RCV000087392 RCV000087393 RCV000087394 RCV000087395 RCV000087396 RCV000087397 RCV000087398 RCV000087399 RCV000087400 RCV000087401 RCV000087402 RCV000087403 RCV000087404 RCV000087405 RCV000087406 RCV000087407 RCV000087408 RCV000087409 RCV000087410 RCV000087411 RCV000087412 RCV000087413 RCV000087414 RCV000087415 RCV000087416 RCV000087417 RCV000087418 RCV000087419 RCV000087421 RCV000087422 RCV000087423 RCV000087424 RCV000087425 RCV000087426 RCV000087427 RCV000087428 RCV000087429 RCV000087430 RCV000087431 RCV000087432 RCV000087433 RCV000087434 RCV000087435 RCV000087436 RCV000087437 RCV000087438 RCV000087439 RCV000087440 RCV000087441 RCV000087442 RCV000087443 RCV000087444 RCV000087445 RCV000087446 RCV000087447 RCV000087449 RCV000087450 RCV000087451 RCV000087452 RCV000087453 RCV000087454 RCV000087455 RCV000087456 RCV000087457 RCV000087458 RCV000087459 RCV000087460 RCV000087461 RCV000087462 RCV000087463 RCV000087464 RCV000763468 RCV000087468 RCV000087469 RCV000087470 RCV000087471 RCV000087472 RCV000087473 RCV000087474 RCV000087475 RCV000087476 RCV000087477 RCV000087479 RCV000087480 RCV000087481 RCV000087482 RCV000087483 RCV000087484 RCV000087485 RCV000087486 RCV000087487 RCV000087488 RCV000087489 RCV000087490 RCV000087491 RCV000087492 RCV000087493 RCV000087494 RCV000087495 RCV000087496 RCV000087497 RCV000087498 RCV000087499 RCV000087500 RCV000087501 RCV000087502 RCV000087503 RCV000087504 RCV000087505 RCV000087506 RCV000087508 RCV000087510 RCV000087511 RCV000087512 RCV000087515 RCV000087516 RCV000087517 RCV000087518 RCV000087519 RCV000087520 RCV000087521 RCV000087522 RCV000087523 RCV000087524 RCV000087525 RCV000087526 RCV000087527 RCV000087528 RCV000087529 RCV000087530 RCV000087531 RCV000087532 RCV000087533 RCV000087534 RCV000087535 RCV000087537 RCV000087539 RCV000087540 RCV000087541 RCV000087542 RCV000087543 RCV000087544 RCV000087545 RCV000087546 RCV000087547 RCV000087548 RCV000087549 RCV000087550 RCV000087551 RCV000087552 RCV000087553 RCV000087554 RCV000087555 RCV000087556 RCV000087557 RCV000087558 RCV000087559 RCV000087560 RCV000087561 RCV000087562 RCV000087563 RCV000087564 RCV000087565 RCV000087566 RCV000087567 RCV000087568 RCV000087569 RCV000087570 RCV000087571 RCV000087572 RCV000087573 RCV000087574 RCV000087575 RCV000087576 RCV000087577 RCV000087578 RCV000087579 RCV000087580 RCV000087581 RCV000087582 RCV000087583 RCV000087584 RCV000087585 RCV000087587 RCV000087588 RCV000087589 RCV000087590 RCV000087591 RCV000087592 RCV000087593 RCV000087594 RCV000087595 RCV000087596 RCV000087597 RCV000087598 RCV000087599 RCV000087600 RCV000087601 RCV000087602 RCV000087603 RCV000087604 RCV000087605 RCV000087607 RCV000087608 RCV000087609 RCV000087610 RCV000087611 RCV000087612 RCV000087613 RCV000087614 RCV000087615 RCV000087616 RCV000087617 RCV000087618 RCV000087619 RCV000087620 RCV000087621 RCV000087622 RCV000087623 RCV000087624 RCV000087625 RCV000087626 RCV000087627 RCV000087628 RCV000087629 RCV000087630 RCV000087631 RCV000087633 RCV000087634 RCV000087635 RCV000087636 RCV000087637 RCV000087638 RCV000087639 RCV000087640 RCV000087641 RCV000087642 RCV000087644 RCV000087645 RCV000087647 RCV000087648 RCV000087649 RCV000087650 RCV000087651 RCV000087652 RCV000087654 RCV000087655 RCV000087656 RCV000087657 RCV000087658 RCV000087659 RCV000087660 RCV000087661 RCV000087663 RCV000087664 RCV000087665 RCV000087666 RCV000087667 RCV000087668 RCV000087669 RCV000087670 RCV000087671 RCV000087672 RCV000087673 RCV000087674 RCV000087675 RCV000087676 RCV000087677 RCV000087678 RCV000087679 RCV000087680 RCV000087681 RCV000087682 RCV000087683 RCV000087684 RCV000087685 RCV000087686 RCV000087687 RCV000087688 RCV000087689 RCV000087690 RCV000087691 RCV000087692 RCV000087693 RCV000087694 RCV000087695 RCV000087696 RCV000087698 RCV000087699 RCV000087700 RCV000087701 RCV000087702 RCV000087703 RCV000087704 RCV000087705 RCV000087706 RCV000087707 RCV000087708 RCV000087709 RCV000087710 RCV000087711 RCV000087712 RCV000087713 RCV000087714 RCV000087715 RCV000087716 RCV000087717 RCV000087718 RCV000087719 RCV000087720 RCV000087721 RCV000087722 RCV000087723 RCV000087724 RCV000087725 RCV000087726 RCV000087727 RCV000087728 RCV000087729 RCV000087730 RCV000087731 RCV000087732 RCV000087733 RCV000087734 RCV000087735 RCV001865935 RCV001859347 RCV001526391 RCV001542732 RCV001706946 RCV003771887 RCV001733848 RCV003772198 RCV001836679 RCV001843970 RCV002034276 RCV001897839 RCV002038971 RCV001979605 RCV002048883 RCV001990760 RCV001950659 RCV002028498 RCV002036805 RCV002018017 RCV002033739 RCV001998849 RCV002033223 RCV001972628 RCV002017187 RCV001973787 RCV001971122 RCV001927493 RCV001988663 RCV001977052 RCV001923828 RCV002025767 RCV001976628 RCV002006837 RCV002007456 RCV001942160 RCV001995564 RCV001957591 RCV001951249 RCV001925950 RCV001966500 RCV001968693 RCV002050634 RCV001885729 RCV001956322 RCV001949481 RCV001993916 RCV001947052 RCV001972578 RCV002020816 RCV002002610 RCV002003555 RCV001980462 RCV002017124 RCV001976925 RCV001955112 RCV001963686 RCV002288244 RCV004785654 RCV003097299 RCV003633664 RCV005097937 RCV002510237 RCV002588472 RCV002651576 RCV002651579 RCV003112138 RCV003118493 RCV001051687 RCV000533423 RCV003996593 RCV000817365 RCV002478604 RCV000709719 RCV002771278 RCV002811384 RCV002856505 RCV002837721 RCV002837577 RCV002899010 RCV002848070 RCV002848091 RCV002877536 RCV002913395 RCV002899290 RCV002923153 RCV002972038 RCV003009770 RCV000195998 RCV003011215 RCV003012068 RCV003022385 RCV003030570 RCV003030618 RCV003035571 RCV003057843 RCV003059573 RCV003044221 RCV000222891 RCV000232240 RCV003633695 RCV003228667 RCV003335290 RCV001854975 RCV002518690 RCV003485914 RCV003485915 RCV003485916 RCV003485917 RCV003523157 RCV003777324 RCV003412535 RCV003524031 RCV003524106 RCV003524083 RCV003524010 RCV003524223 RCV003522213 RCV003522258 RCV003522569 RCV003522572 RCV003524929 RCV003525279 RCV003525280 RCV003525281 RCV003525283 RCV003525256 RCV003523790 RCV003523862 RCV003524644 RCV003524757 RCV003524443 RCV003524837 RCV003522736 RCV003633926 RCV003634472 RCV003634658 RCV003634556 RCV003634622 RCV003634807 RCV003634824 RCV003634844 RCV003634954 RCV003634946 RCV003635361 RCV003635217 RCV003635252 RCV003635256 RCV003635257 RCV003635309 RCV003635235 RCV003635366 RCV003633080 RCV003633258 RCV003633313 RCV003633314 RCV003633344 RCV003634140 RCV003634223 RCV003864826 RCV000018739 RCV000087507 RCV000018741 RCV000087697 RCV000018743 RCV000018744 RCV000018746 RCV000018748 RCV000018749 RCV000018751 RCV000018752 RCV000018753 RCV000018754 RCV000018755 RCV000018756 RCV000018757 RCV000018758 RCV000018759 RCV000018760 RCV000018762 RCV000018763 RCV000018764 RCV000018765 RCV000018766 RCV000018767 RCV000018768 RCV000018769 RCV000018771 RCV003991516 RCV004015823 RCV004018368 RCV004556985 RCV000509138 RCV001379348 RCV000793816 RCV000460412 RCV000470199 RCV000464302 RCV000474369 RCV000474877 RCV000468152 RCV000461180 RCV000474051 RCV000659422 RCV001378488 RCV000547036 RCV000536397 RCV000546683 RCV000527120 RCV000531290 RCV000556139 RCV000551017 RCV000552040 RCV000588154 RCV000616357 RCV001860392 RCV003523003 RCV000634707 RCV000634711 RCV000634718 RCV000634713 RCV000634716 RCV000659417 RCV000659432 RCV001377183 RCV000680211 RCV000702928 RCV000703223 RCV000697146 RCV000699917 RCV000695723 RCV000705647 RCV000697608 RCV000703526 RCV000686415 RCV000693892 RCV000700460 RCV002493385 RCV001253309 RCV000766237 RCV003633543 RCV001045299 RCV000816008 RCV000814824 RCV000822461 RCV000806079 RCV000821553 RCV000792990 RCV000806006 RCV000823072 RCV000809935 RCV000809044 RCV000797790 RCV000806513 RCV000807317 RCV000793968 RCV000795865 RCV000822877 RCV000826160 RCV000850541 RCV000986953 RCV000993799 RCV001070841 RCV001050941 RCV001056189 RCV001050761 RCV001067197 RCV001043150 RCV001050451 RCV001058086 RCV001049776 RCV001063053 RCV001068374 RCV001219405 RCV001223695 RCV001209569 RCV001207884 RCV001204750 RCV001207202 RCV001223034 RCV001221963 RCV001222730 RCV001233148 RCV001233189 RCV001228142 RCV001249611 RCV001253763 RCV001254944 RCV001269145 RCV001871698 RCV001289546
Familial aortopathy	Likely pathogenic; Pathogenic	rs587779445, rs587779704, rs2469117990, rs794728060, rs2469156496, rs1430509325, rs1057521106, rs193922176, rs1057521930, rs1559053022, rs772827388, rs1688586251	RCV005431471 RCV000781312 RCV006269775 RCV003479047 RCV004765903 RCV004701804 RCV004586706 RCV000029618 RCV000781311 RCV000781313 RCV001824888 RCV004689966
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs553203474, rs587779442, rs587779447, rs587779450, rs587779451, rs587779461, rs587779463, rs587779471, rs587779476, rs587779478, rs587779479, rs587779482, rs587779489, rs587779490, rs587779504 View all (121 more)	RCV006386754 RCV005801738 RCV006386755 RCV002433595 RCV005801739 RCV002453417 RCV005801740 RCV002433596 RCV003162519 RCV002415586 RCV002313842 RCV002453418 RCV005532579 RCV005318323 RCV002453419 RCV002313843 RCV002362737 RCV006386756 RCV002362738 RCV003162520 RCV002321584 RCV004821972 RCV002310654 RCV002444560 RCV002310655 RCV005318324 RCV003162521 RCV002433597 RCV002415587 RCV002453421 RCV005318325 RCV004821973 RCV002362739 RCV002313844 RCV002444561 RCV005532580 RCV002310656 RCV002362740 RCV006386757 RCV002354287 RCV001189408 RCV006386758 RCV004821974 RCV001190410 RCV002313845 RCV001170888 RCV002415588 RCV003162522 RCV002313846 RCV002310657 RCV005318326 RCV002368537 RCV001526135 RCV002324137 RCV001799392 RCV005320888 RCV003528344 RCV005401884 RCV005804426 RCV002441161 RCV002398064 RCV004822964 RCV002407201 RCV002451769 RCV002346718 RCV002375549 RCV002340306 RCV002398942 RCV002380919 RCV002394784 RCV002413063 RCV002414938 RCV002446141 RCV002417651 RCV002425885 RCV002428247 RCV002437459 RCV002424091 RCV002439992 RCV003528437 RCV005801747 RCV001170887 RCV005401355 RCV001184789 RCV004821996 RCV005542844 RCV004823088 RCV003172426 RCV003172428 RCV002310857 RCV002310847 RCV002310867 RCV003358413 RCV003447664 RCV004823161 RCV004823163 RCV005806810 RCV005537634 RCV005545080 RCV005402078 RCV002444435 RCV001184539 RCV001170886 RCV000616909 RCV001186047 RCV004437396 RCV004437397 RCV005403431 RCV002392939 RCV005801786 RCV002418270 RCV000600848 RCV002314849 RCV002314960 RCV001190483 RCV002315882 RCV000603455 RCV000602743 RCV001170885 RCV002314223 RCV002314217 RCV002314219 RCV002314213 RCV002314218 RCV002314214 RCV002314215 RCV004822141 RCV002448961 RCV005801844 RCV004822158 RCV003528219 RCV005540147 RCV000770600 RCV002422679 RCV006367363 RCV002424801 RCV002379628 RCV002393351 RCV001171062 RCV004822326 RCV004032462 RCV005802065
Hereditary spastic paraplegia 4	Likely pathogenic	rs587779556	RCV003314535
Lung cancer	Pathogenic	rs397509370	RCV005887557
Melanoma	Likely pathogenic	rs2469137619	RCV005931070
Micrognathia	Likely pathogenic; Pathogenic	rs1223008559	RCV006273021
Nonpapillary renal cell carcinoma	Pathogenic	rs587779429	RCV005887811
Ovarian serous cystadenocarcinoma	Pathogenic; Likely pathogenic	rs587779603, rs587779530, rs794728038	RCV005887813 RCV005887814 RCV005892101
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	Likely pathogenic; Pathogenic	rs771791598, rs587779498, rs587779527, rs587779528, rs587779450, rs587779620, rs587779518, rs587779695, rs587779696, rs2153503430, rs572097661, rs794728057, rs1057518372, rs397509377, rs1393544920 View all (5 more)	RCV005023121 RCV001198513 RCV000758208 RCV000758209 RCV005025172 RCV002483171 RCV004796016 RCV002490756 RCV002477259 RCV002497955 RCV006269808 RCV002478604 RCV005410900 RCV000022485 RCV004796252 RCV000758210 RCV000758211 RCV000853487 RCV002501039 RCV001196008
POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME	Likely pathogenic	rs1234344050	RCV000758212
See cases	Pathogenic; Likely pathogenic	rs2469113465, rs886038892	RCV002287688 RCV002287399
Seizure	Pathogenic	rs587779595	RCV000626591
Squamous cell lung carcinoma	Likely pathogenic	rs587779613	RCV005930298
Thoracic aortic aneurysm or dissection	Pathogenic	rs397509370	RCV005416025
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs749145939	RCV005931069
Uterine corpus endometrial carcinoma	Pathogenic	rs587779535	RCV005887812

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of neuronal migration	Uncertain significance	rs863223362	RCV000201324
Aortic aneurysm	Conflicting classifications of pathogenicity	rs111391222	RCV000148459
Aortic aneurysm, familial thoracic 2	Uncertain significance	rs1553509307	RCV000581426
Arterial dissection	Uncertain significance	rs730880063	RCV000157143
COLLAGEN TYPE III POLYMORPHISM	Benign	rs1800255	RCV000018745
Connective tissue disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs111567071, rs1688245023, rs112185887, rs111840783, rs146652498, rs149722210, rs141241764, rs201380807, rs771858477, rs138061246, rs886038228, rs1057523141, rs771015742, rs369992399, rs1553508534, rs376171095, rs1559057656 View all (2 more)	RCV000659423 RCV002278838 RCV000680499 RCV000659433 RCV000659418 RCV000659428 RCV000659409 RCV000659410 RCV000659413 RCV000659430 RCV000659411 RCV000659412 RCV000659414 RCV000659427 RCV000659421 RCV000659431 RCV000680500
Disproportionate tall stature	Uncertain significance	rs869025372	RCV001837758
Familial cancer of breast	Benign; Likely benign	rs16830973, rs112164939, rs1516446	RCV005923854 RCV005892099 RCV005894923
Familial pancreatic carcinoma	Benign; Likely benign	rs112164939	RCV005892100
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign	rs146652498, rs12619321	RCV005889884 RCV005904210
Isolated thoracic aortic aneurysm	Uncertain significance	rs1315143573, rs2153503029, rs2153503031, rs2153504236	RCV001374774 RCV001374775 RCV001374776 RCV001374777
Loeys-Dietz syndrome	Conflicting classifications of pathogenicity	rs111840783	RCV000157142
Malignant tumor of esophagus	Benign	rs12619321	RCV005904211
Marfan syndrome	Uncertain significance	rs730880062	RCV000157141
Ovarian cancer	Conflicting classifications of pathogenicity	rs146652498	RCV005889885
Sarcoma	Benign; Uncertain significance	rs111835500, rs761469859, rs12619321	RCV005923232 RCV005892102 RCV005904212

Show/Hide Text Mining Associations (166)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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 View all (15 more)
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 View all (60 more)
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

COL3A1 (collagen type III alpha 1 chain)