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
• 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: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

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Aortic dissection	Pathogenic; Likely pathogenic	rs587779451, rs1553507345	RCV005411336 RCV000583742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs587779451, rs587779715, rs886038925, rs886038920, rs886038892, rs587779704, rs1553508463	RCV005628230 RCV005400702 RCV000252094 RCV000246359 RCV000252013 RCV000590473 RCV005404034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital aneurysm of ascending aorta	Pathogenic	rs1553508473	RCV000664467	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective and Soft Tissue Disorder	Likely pathogenic; Pathogenic	rs587779692	RCV005241236	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue nevi	Pathogenic	rs587779595	RCV000626591	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome	Pathogenic; Likely pathogenic	rs2153502995, rs587779508, rs587779623, rs2153503019, rs587779550, rs2153502168, rs572097661, rs1553507432, rs1688259777	RCV002276721 RCV002277149 RCV002277150 RCV002277983 RCV002277984 RCV002277989 RCV004017969 RCV002279457 RCV001250387	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, dominant type 4	Pathogenic	rs587779689	RCV004786370	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT	Pathogenic	rs121912920	RCV000018761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, type 3	Likely pathogenic	rs863224860	RCV000195998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, type 4	Pathogenic; Likely pathogenic	rs2153501869, rs2153501976, rs2153502163, rs2153502271, rs2153502406, rs2153502447, rs2153503009, rs771791598, rs2153503790, rs2153503949, rs2153502995, rs587779694, rs1460396340, rs587779416, rs587779417, rs587779418, rs587779419, rs587779420, rs553203474, rs587779421, rs587779422, rs587779423, rs587779424, rs587779425, rs587779426, rs587779427, rs587779428, rs587779429, rs121912923, rs587779430, rs587779431, rs587779432, rs587779433, rs587779434, rs587779435, rs587779436, rs587779437, rs587779438, rs587779439, rs587779440, rs587779441, rs587779442, rs121912919, rs587779444, rs587779445, rs587779446, rs587779447, rs587779448, rs587779449, rs587779450, rs587779451, rs587779452, rs587779453, rs587779454, rs587779455, rs587779456, rs587779457, rs587779458, rs587779459, rs587779460, rs587779461, rs587779462, rs587779463, rs587779464, rs587779465, rs587779466, rs121912913, rs587779467, rs587779468, rs587779469, rs587779470, rs587779471, rs587779472, rs587779473, rs587779474, rs587779475, rs587779476, rs121912926, rs587779477, rs587779478, rs587779479, rs587779480, rs587779481, rs587779482, rs587779483, rs587779484, rs587779485, rs587779486, rs121912917, rs587779488, rs587779489, rs587779490, rs587779491, rs587779492, rs587779493, rs587779494, rs587779495, rs587779496, rs587779497, rs587779498, rs587779499, rs587779500, rs587779501, rs587779502, rs587779503, rs587779504, rs587779505, rs587779506, rs587779507, rs587779508, rs587779509, rs587779510, rs397509372, rs587779511, rs587779512, rs587779513, rs587779514, rs587779515, rs587779516, rs587779517, rs587779518, rs587779519, rs587779520, rs587779521, rs587779522, rs587779523, rs587779524, rs587779525, rs587779526, rs1559053784, rs587779527, rs587779529, rs587779530, rs587779531, rs587779532, rs587779533, rs587779534, rs587779535, rs587779536, rs587779537, rs587779539, rs587779540, rs587779541, rs587779542, rs587779543, rs587779544, rs587779545, rs587779546, rs587779547, rs587779548, rs587779549, rs587779550, rs587779551, rs587779552, rs587779553, rs587779554, rs587779555, rs397509375, rs587779556, rs587779557, rs587779558, rs587779559, rs587779560, rs587779561, rs587779562, rs587779563, rs587779564, rs587779566, rs587779567, rs587779568, rs587779569, rs587779570, rs587779571, rs587779572, rs587779573, rs587779574, rs587779575, rs587779576, rs587779577, rs587779578, rs587779579, rs587779580, rs587779581, rs587779582, rs121912927, rs587779583, rs587779584, rs587779586, rs587779587, rs587779588, rs587779589, rs587779590, rs587779591, rs587779592, rs587779593, rs587779594, rs587779595, rs587779596, rs587779597, rs587779598, rs587779599, rs587779600, rs587779601, rs587779602, rs1559061242, rs587779603, rs587779604, rs587779605, rs587779606, rs587779607, rs587779608, rs587779609, rs587779610, rs1559057346, rs587779611, rs587779612, rs587779613, rs587779614, rs587779615, rs587779616, rs587779617, rs587779618, rs1559055162, rs587779619, rs587779620, rs587779621, rs587779622, rs587779623, rs587779624, rs587779625, rs587779626, rs587779627, rs587779628, rs111505097, rs121912925, rs587779629, rs786200946, rs587779443, rs587779630, rs587779631, rs587779632, rs113871730, rs587779633, rs587779634, rs587779635, rs587779637, rs587779638, rs587779639, rs587779640, rs587779641, rs587779642, rs121912918, rs587779643, rs587779644, rs587779645, rs587779646, rs587779647, rs587779648, rs587779649, rs587779650, rs587779651, rs587779652, rs267599120, rs111929073, rs587779653, rs587779654, rs587779655, rs587779656, rs587779657, rs587779658, rs587779659, rs587779660, rs587779661, rs587779662, rs587779663, rs1553509630, rs587779664, rs587779665, rs587779666, rs587779667, rs587779668, rs587779669, rs587779670, rs587779671, rs112371422, rs587779672, rs587779673, rs587779674, rs587779675, rs587779676, rs587779677, rs587779678, rs587779679, rs587779680, rs587779681, rs587779682, rs587779683, rs587779684, rs587779685, rs587779686, rs587779687, rs587779688, rs587779689, rs587779690, rs587779691, rs587779692, rs587779693, rs587779695, rs587779696, rs587779697, rs587779698, rs587779699, rs587779700, rs587779701, rs587779702, rs587779703, rs587779704, rs1553508025, rs587779705, rs587779706, rs397509370, rs587779707, rs587779708, rs587779709, rs587779710, rs587779711, rs587779712, rs587779713, rs587779714, rs587779715, rs397509376, rs587779716, rs587779717, rs587779718, rs587779719, rs587779720, rs587779721, rs587779722, rs587779723, rs2153501733, rs2153501864, rs2153501416, rs2153504449, rs866316633, rs1688274077, rs2153501643, rs763107572, rs2153503227, rs2153503368, rs2153503896, rs2153502405, rs2153502433, rs2153503895, rs2153502383, rs2153502448, rs2153503888, rs2153503430, rs1688203788, rs2153503632, rs2153503066, rs2153502803, rs2153502277, rs2153501969, rs2153501340, rs2153502051, rs2153503498, rs2153503495, rs794728043, rs1576467144, rs2153502552, rs2153502611, rs2153503061, rs2153501942, rs2153503975, rs868138294, rs2153502988, rs2153501353, rs1688322811, rs2153502094, rs1328301317, rs2153503300, rs2153503634, rs2153502685, rs1333066574, rs1553508463, rs2469129452, rs2469138189, rs2469126009, rs2469105653, rs2469117990, rs2153503006, rs112532745, rs572097661, rs2469159525, rs794728040, rs794728044, rs794728054, rs794728057, rs794728060, rs2469127921, rs2469137695, rs1688249384, rs2469158167, rs2469139432, rs2469129512, rs2469163029, rs2469147714, rs2469130111, rs2469170821, rs1360092016, rs2469172612, rs863224860, rs2469130364, rs2469111486, rs559102186, rs2469153717, rs2469154239, rs2469118675, rs2469118099, rs878853651, rs2469138123, rs2469108377, rs886038952, rs886038892, rs1688231158, rs749145939, rs2469137619, rs1688532582, rs2469153261, rs2469122024, rs2469143353, rs2469126287, rs2153504069, rs2469158238, rs2469120517, rs2469149468, rs2469163629, rs2469120410, rs1688530172, rs794727181, rs193922176, rs2469135450, rs1085307964, rs1459137122, rs2469147656, rs2469156496, rs1193008774, rs1553507991, rs2469137653, rs2469158240, rs2469113266, rs2469135270, rs2469148128, rs2469130264, rs2469149427, rs2469149355, rs2469084903, rs2469116583, rs2469154289, rs2469161837, rs267599125, rs2469152092, rs1688384382, rs1468768980, rs2469134090, rs2469169298, rs1553507274, rs2469123111, rs2469138091, rs2469150656, rs1430509325, rs2469130010, rs2469163132, rs2469133020, rs397509369, rs113485686, rs121912914, rs869312034, rs397509371, rs121912915, rs121912928, rs397509373, rs397509374, rs121912916, rs112456072, rs387906557, rs121912921, rs121912922, rs121912924, rs1553507557, rs2469166555, rs1553509404, rs2469113424, rs2469135354, rs1057518075, rs1057518372, rs1057521106, rs1060500194, rs587779487, rs1060500199, rs1060500187, rs1060500200, rs1060500204, rs1060500203, rs1060500193, rs1085307896, rs1553509397, rs1553509187, rs1553507265, rs1057524653, rs1553509744, rs1553509430, rs1553508338, rs1553507863, rs1393544920, rs1553507432, rs1553507614, rs1553509208, rs1553509391, rs1553508238, rs1553509726, rs1553508473, rs1559056438, rs1559058970, rs1559061674, rs375737772, rs1559061706, rs1559056621, rs1559052609, rs1559059873, rs1559060412, rs1559061954, rs1559063681, rs1576465155, rs1234344050, rs1559054653, rs1173194734, rs1576463632, rs1576463663, rs772827388, rs1576467133, rs755528878, rs1576468160, rs1576468332, rs1576472890, rs1576474929, rs1576463100, rs1576468385, rs1576473641, rs201314784, rs1576468562, rs1576471840, rs1333421028, rs1576467391, rs1688258933, rs1688305296, rs1688322272, rs1688417659, rs1688529460, rs1688561706, rs1688586251, rs1553506938, rs1688231067, rs1688663336, rs1688730568, rs1688732322, rs1688078187, rs1688619749, rs1688268302, rs187907868, rs1688528616, rs1158155272, rs1688635593	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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, rs397509372, rs587779518, rs587779533, rs587779534, rs587779536, rs587779540, rs587779550, rs587779535, rs587779563, rs587779583, rs587779584, rs587779596, rs587779604, rs587779609, rs587779500, rs587779620, rs587779625, rs587779626, rs587779541, rs587779646, rs587779650, rs587779662, rs587779671, rs112371422, rs587779682, rs587779685, rs587779687, rs587779691, rs587779692, rs587779695, rs587779706, rs587779712, rs2153501864, rs2153502437, rs1223008559, rs2153501643, rs1060500204, rs2153503975, rs2153502094, rs2153501733, rs2153503634, rs2153502685, rs587779707, rs1553508463, rs2469162978, rs2469166242, rs2469169214, rs2469127914, rs2469125950, rs2469129452, rs2469133091, rs2469138189, rs2469138288, rs587779694, rs111929073, rs121912925, rs2153503061, rs2469153502, rs2469126009, rs587779542, rs572097661, rs587779507, rs794728040, rs794728054, rs794728057, rs794728060, rs2469129512, rs587779705, rs2469144147, rs794728038, rs794728044, rs886038853, rs886038952, rs2469113459, rs587779676, rs2153504069, rs2469163629, rs2469149355, rs267599125, rs1430509325, rs2469130010, rs113485686, rs397509370, rs121912927, rs121912923, rs121912926, rs587779586, rs2469148127, rs2469135354, rs1057518075, rs1057518372, rs1057521106, rs1064797017, rs587779704, rs587779578, rs1553508338, rs1553507180, rs1553507867, rs1393544920, rs1553507574, rs1553507991, rs587779433, rs587779458, rs1553508957, rs1553509869, rs1553507614, rs1553509391, rs1553508238, rs1559056438, rs375737772, rs1559063681, rs869312034, rs755528878, rs587779587, rs1576468385, rs1688258933, rs1688274077, rs1688561668, rs1688231067, rs1688078187, rs1688619749	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia 4	Likely pathogenic	rs587779556	RCV003314535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Pathogenic	rs397509370	RCV005887557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs2469137619	RCV005931070	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathia	Likely pathogenic; Pathogenic	rs1223008559	RCV006273021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs587779429	RCV005887811	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic; Likely pathogenic	rs587779603, rs587779530, rs794728038	RCV005887813 RCV005887814 RCV005892101	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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, rs1576465155, rs1559058482, rs1234344050, rs755528878, rs1688274473	RCV005023121 RCV001198513 RCV000758208 RCV000758209 RCV005025172 RCV002483171 RCV004796016 RCV002490756 RCV002477259 RCV002497955 RCV006269808 RCV002478604 RCV005410900 RCV000022485 RCV004796252 RCV000758210 RCV000758211 RCV000853487 RCV002501039 RCV001196008	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME	Likely pathogenic	rs1234344050	RCV000758212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs587779595	RCV000626591	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs587779613	RCV005930298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thoracic aortic aneurysm or dissection	Pathogenic	rs397509370	RCV005416025	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs749145939	RCV005931069	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs587779535	RCV005887812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic aneurysm	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic aneurysm, familial thoracic 2	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AORTIC VALVE INSUFFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arterial dissection	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME, VASCULAR TYPE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, EXTRAHEPATIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLLAGEN TYPE III POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disproportionate tall stature	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSECTION OF AORTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, VASCULAR TYPE	—	ClinGen, GWAS catalog, HPO ClinGen, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CEREBRAL SACCULAR ANEURYSM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated thoracic aortic aneurysm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, ALCOHOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Loeys-Dietz syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan syndrome	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC AORTIC REGURGITATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR EHLERS-DANLOS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR EHLERS-DANLOS-POLYMICROGYRIA SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acro-Osteolysis	Acrosteolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrogeria	Acrogeria	ORPHANET_DG	10819545		★☆☆☆☆ Found in Text Mining only
Acrogeria	Acrogeria	Orphanet			★☆☆☆☆ Found in Text Mining only
Acrogeria	Acrogeria	BEFREE	15492417, 8881656		★☆☆☆☆ Found in Text Mining only
Acrogeria, gottron type	Acrogeria	ORPHANET_DG	10819545		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11454421		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19949890		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	26817844		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33083483	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	14722581, 20648054		★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	26258650		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	2243125	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	22113147, 29216800		★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)	Intracranial Aneurysm	ORPHANET_DG	22241462		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	12149201	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	11269788, 18389341, 2243125, 2349939		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic Aneurysm	Aortic aneurysm	Pubtator	2243125, 2349939, 8514866	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26017485	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	37776192	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	ORPHANET_DG	10388642, 2243125		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26017485		★☆☆☆☆ Found in Text Mining only
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	Aortic Aneurysm	ORPHANET_DG	10388642, 2243125		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	24650746		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	39239969	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	20648054, 25205403, 26497932, 33083483, 35078481, 40533124	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic Dissection	Aortic dissection	Pubtator	37042257	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic Rupture	Aortic rupture	Pubtator	2243125	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	CTD_human_DG	21216836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	35534923	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34332113	Stimulate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	36930067	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29050298		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	36085041	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	23582094	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31888563	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34541602, 35296631, 38187400	Associate	★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	28911071	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33035117	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	3361139	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29050298		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31533654	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31731384	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33828127	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36085041	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	16681691		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29778910		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36725968	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25371518, 37776192	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	27017522	Associate	★☆☆☆☆ Found in Text Mining only
Cavitary Optic Disc Anomalies	Cavitary optic disc anomalies	Pubtator	32471395	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	22113147		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	24664438		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GENOMICS_ENGLAND_DG	8526472		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	29346445	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	CTD_human_DG	28789951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	BEFREE	19424605		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19000145		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	20388698		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	25205403	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31584460	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26741506		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32356618, 32945508, 33277910, 37816854	Associate	★☆☆☆☆ Found in Text Mining only
Compensatory Hyperinsulinemia	Compensatory Hyperinsulinemia	CTD_human_DG	20836762		★☆☆☆☆ Found in Text Mining only
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital anomaly of brain	Brain malformation	BEFREE	22235340		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23459615, 31297506		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	17053184, 23489429, 28183226, 30357907, 30786240, 30919682, 31126764, 31600821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective tissue disease	Pubtator	30675029, 34939946, 35964930, 36103205	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25193015		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	12149201		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12149201		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	12149201		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	12149201	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Dissection Spontaneous	Spontaneous coronary artery dissection	Pubtator	33125268, 35092149, 36103205, 40194966	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	12149201		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30213581		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystocele	Cystocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	40140985	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25371518, 35271662	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	17251678	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	35964930	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	17255358		★☆☆☆☆ Found in Text Mining only
Dissection Ascending Aorta	Dissection of aorta	Pubtator	29510914	Associate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dissection of aorta	Aortic dissection	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	15716609	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	10051163, 11577371, 12016538, 12215586, 18389341, 19455184, 2049575, 20648054, 22235340, 2365710, 23688910, 24922459, 25205403, 25355833, 25758994, 25846194, 25940258, 2683783, 2722184, 28035354, 2875936, 30837697, 31394236, 31531849, 8317500, 8477261, 8950675, 9399899, 9841712		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	LHGDN	11577371, 14970208		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome type 1	Ehlers-Danlos Syndrome	BEFREE	1684560		★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT	Ehlers-Danlos syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, type 3 (disorder)	Ehlers-Danlos Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	BEFREE	10051163, 10923041, 11168790, 12173720, 12694234, 12786757, 1352273, 1370809, 1496983, 1757960, 1905723, 1998337, 2002056, 20518783, 21219851, 2145268, 21637106, 22113147, 22235340, 2243125, 23489429, 2349939, 23688910, 25776230, 26497932, 28183226, 28742248, 2875936, 3162228, 7487954, 7665911, 8019562, 8098182, 8317500, 8320698, 8411057, 8884076, 9036918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	CLINVAR_DG	10706896, 1352273, 15365990, 17122455, 17728513, 18043893, 19248182, 19344236, 20052764, 20518783, 21520333, 22019127, 22038052, 22492385, 2349939, 24399159, 24922459, 25355833, 25758994, 26497932, 27306637, 28349240, 30675029, 7695699, 8218237, 9036918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	UNIPROT_DG	10706896, 10923041, 11168790, 12694234, 12786757, 1352273, 1357232, 1370809, 1496983, 1895316, 2243125, 2349939, 2492273, 2808425, 7749417, 7833919, 7912131, 8019562, 8098182, 8411057, 8514866, 8664902, 8680408, 8884076, 8990011, 9036918, 9147870, 9452103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	CLINGEN_DG	10706896, 11577371, 14623400, 21071432, 22038052, 23374456, 2365710, 28102592, 2834369, 29551664, 9050868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	2243125, 24922459, 26888179, 30690834, 7369469, 8526472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalomalacia	Encephalomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endogenous Hyperinsulinism	Endogenous Hyperinsulinism	CTD_human_DG	20836762		★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	26741506		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33280513, 33543230	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36238478	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	38401086	Stimulate	★☆☆☆☆ Found in Text Mining only
Exogenous Hyperinsulinism	Exogenous Hyperinsulinism	CTD_human_DG	20836762		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial abdominal aortic aneurysm	Abdominal Aortic Aneurysm	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial cerebral saccular aneurysm	Cerebral Saccular Aneurysm	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	25644172	Associate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	19695909, 21071432, 2243125, 2349939, 2365710, 24922459, 25907466, 3162228, 8098182, 9050868		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fatty Liver	Fatty Liver	CTD_human_DG	15787813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibroid Tumor	Leiomyoma	LHGDN	18089612		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	11167689, 15787813, 16679477, 1880254, 2566230		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	19398442, 37907428	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	19398442		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	34348663	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27655637, 28191466, 30008884		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27655637, 28191466	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27655637, 28191466, 30008884		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27655637, 30008884		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27655637	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31104065, 32757451	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	36039012	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35078481	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31297506		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35645616	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	20720362, 33161638, 40598578	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	33161638	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	21330458	Associate	★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	BEFREE	19398442		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	CTD_human_DG	21852083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	CTD_human_DG	20836762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	CTD_human_DG	20836762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	16718761	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	11682445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	28306228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	29377229		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	16521042		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24084714		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	36012303, 37907428, 39289672	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38117249	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	25893343		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	32873329	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	36740606	Stimulate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	10436112, 22241462, 29086084, 8255472		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	2349939, 40533124	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31687002		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GENOMICS_ENGLAND_DG	8526472		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33828127	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	38187400	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	11181017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyoma	Leiomyoma	Pubtator	26453978, 34116832, 36830563	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoblastoma	Lipoblastoma	BEFREE	24700772		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19000145		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	11167689, 15787813, 16679477, 1880254, 2566230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19000145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	26415140	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	CTD_human_DG	23274713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	Pubtator	35726350	Associate	★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	BEFREE	20648054		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	GENOMICS_ENGLAND_DG	2243125, 26888179		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung Diseases	Lung disease	Pubtator	11843319	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	26151842		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36148899	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31888563	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	17255358	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29050298		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26741506		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	20648054, 22113147, 2883320		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Marfan Syndrome	Marfan syndrome	Pubtator	37840311	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35087523	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melorheostosis	Melorheostosis	BEFREE	12752142		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	31353273	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	15193836, 31353273		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	LHGDN	15193836		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36849997	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26545722	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	CTD_human_DG	12868502		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	11168790, 28577867		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	11168790	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25786138	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25193015, 28911071		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	CTD_human_DG	30818366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
neurofibroma	Neurofibroma	BEFREE	29666462		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29137289		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34419146	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27356888, 35093162	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	1905723		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	8950675	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32999266	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30518744		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30518744	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30142790, 8579116	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36415513	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	19152942, 24721264, 24760181, 31041498, 31663982		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	26927240	Stimulate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Benign Mucous Membrane	Benign mucous membrane pemphigoid	Pubtator	37690517	Associate	★☆☆☆☆ Found in Text Mining only
Perforation of colon	Perforation Of Colon	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	25205403	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria Bilateral Frontoparietal	Polymicrogyria	Pubtator	25205403	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32687633, 37108678, 38187400	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	31341891		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	LHGDN	17396208		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24084714, 29703175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	26817844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25193015		★☆☆☆☆ Found in Text Mining only
Rupture of artery	Rupture Of Artery	BEFREE	20518783		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	LHGDN	16521042		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35047627	Associate	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	35271662	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	3580008		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	26333736		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	30837697	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28131740		★☆☆☆☆ Found in Text Mining only
Spontaneous pneumothorax	Spontaneous pneumothorax	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31109699, 36039012	Associate	★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	12149201		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	15787813		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30948703, 32058995, 32908877, 35739492, 35756405, 36690975, 37800754	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	12149201, 32106772, 37776192	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	21086191		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	3580008		★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	37042257	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29967488	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	1684560		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30689556, 30723390, 33035117, 36131343	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	18089612		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Ehlers-Danlos syndrome	Ehlers-Danlos Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular System Injuries	Vascular system injury	Pubtator	36103205	Associate	★☆☆☆☆ Found in Text Mining only
Vertebral Artery Dissection	Vertebral Artery Dissection	GENOMICS_ENGLAND_DG	8526472		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	8496616		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	8496616	Associate	★☆☆☆☆ Found in Text Mining only