ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13)

Gene

• Entrez ID: 11093
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 13
• Gene symbol: ADAMTS13
• Synonyms (NCBI Gene): ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP
• Chromosome: 9
• Chromosome location: 9q34.2
• Summary: This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Wille

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2301612	C>A,G	Pathogenic, benign	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs36220240	C>T	Likely-benign, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant, synonymous variant
rs121908467	C>G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, upstream transcript variant, missense variant
rs121908468	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs121908469	C>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, upstream transcript variant, missense variant
rs121908470	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121908471	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs121908472	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs121908473	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908474	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs121908475	C>T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs121908476	C>G,T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant, missense variant
rs121908477	G>C,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, upstream transcript variant, missense variant
rs121908478	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, upstream transcript variant, missense variant
rs142572218	C>A,T	Not-provided, pathogenic	Missense variant, downstream transcript variant, genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs148312697	G>C	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs192619276	G>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs281875287	C>T	Likely-pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs281875299	C>T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs281875302	G>A	Likely-pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant
rs281875305	G>A	Pathogenic, not-provided	Synonymous variant, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs281875307	A>G,T	Likely-pathogenic, not-provided	Intron variant, missense variant, coding sequence variant
rs375415632	G>A	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant
rs387906341	->T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs387906342	AGCTGTGGCGCTGGAAACCTGCAACC>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs387906344	TT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906345	GGAGGACACAGAGCGCTATGTGCTCACCA>-	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, frameshift variant, non coding transcript variant
rs387906346	TGCCCG>-	Pathogenic	Inframe indel, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs782235228	G>A	Pathogenic	Intron variant
rs786205077	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs786205078	G>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1057520680	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1060499780	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs1554785114	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, intron variant
rs1554785242	G>T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1554789680	G>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554791280	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1588198044	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610470	hsa-miR-1538	HITS-CLIP	19536157
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610470	hsa-miR-1538	HITS-CLIP	19536157
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610470	hsa-miR-1538	HITS-CLIP	19536157
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610470	hsa-miR-1538	HITS-CLIP	19536157
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT766366	hsa-miR-3978	CLIP-seq
MIRT766367	hsa-miR-4329	CLIP-seq
MIRT766368	hsa-miR-4786-5p	CLIP-seq
MIRT766369	hsa-miR-769-5p	CLIP-seq
MIRT766366	hsa-miR-3978	CLIP-seq
MIRT766367	hsa-miR-4329	CLIP-seq
MIRT766368	hsa-miR-4786-5p	CLIP-seq
MIRT766369	hsa-miR-769-5p	CLIP-seq
MIRT2443148	hsa-miR-1224-3p	CLIP-seq
MIRT2443149	hsa-miR-4286	CLIP-seq
MIRT2443150	hsa-miR-4640-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	EXP	12775718, 18983500, 31439947
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0005178	Function	Integrin binding	TAS	11557746
GO:0005509	Function	Calcium ion binding	TAS	11557746
GO:0005515	Function	Protein binding	IPI	12775718, 16221672, 18492805, 25512528
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	11535495
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007160	Process	Cell-matrix adhesion	NAS	11557746
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	11557746
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS
GO:0007599	Process	Hemostasis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	11557746
GO:0008270	Function	Zinc ion binding	TAS	11557746
GO:0009100	Process	Glycoprotein metabolic process	NAS	11557746
GO:0009636	Process	Response to toxic substance	IEA
GO:0009986	Component	Cell surface	NAS	11557746
GO:0014075	Process	Response to amine	IEA
GO:0016485	Process	Protein processing	TAS	11557746
GO:0016787	Function	Hydrolase activity	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030168	Process	Platelet activation	NAS	11557746
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	TAS	11557746
GO:0034341	Process	Response to type II interferon	IEA
GO:0034612	Process	Response to tumor necrosis factor	IEA
GO:0035864	Process	Response to potassium ion	IEA
GO:0043171	Process	Peptide catabolic process	IDA	11535495
GO:0046872	Function	Metal ion binding	IEA
GO:0070670	Process	Response to interleukin-4	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA

Other IDs

• MIM: 604134
• HGNC: 1366
• e!Ensembl: ENSG00000160323

Protein

• UniProt ID: Q76LX8
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAM-TS 13) (ADAM-TS13) (ADAMTS-13) (EC 3.4.24.87) (von Willebrand factor-cleaving protease) (vWF-CP) (vWF-cleaving protease)
• Protein function: Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.
• PDB: 3GHM, 3GHN, 3VN4, 6QIG, 7B01
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01421	Reprolysin	81 → 286	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF17771	ADAM_CR_2	301 → 372	ADAM cysteine-rich domain	Domain
  PF00090	TSP_1	388 → 438	Thrombospondin type 1 domain	Domain
  PF19030	TSP1_ADAMTS	746 → 804		Domain
  PF19030	TSP1_ADAMTS	955 → 1012		Domain
  PF19030	TSP1_ADAMTS	1016 → 1072		Domain
  PF19030	TSP1_ADAMTS	1076 → 1130		Domain

• Tissue specificity: TISSUE SPECIFICITY: Plasma. Expressed primarily in liver. {ECO:0000269|PubMed:11574066}.
• Sequence:

  MHQRHPRARCPPLCVAGILACGFLLGCWGPSHFQQSCLQALEPQAVSSYLSPGAPLKGRP
  PSPGFQRQRQRQRRAAGGILHLELLVAVGPDVFQAHQEDTERYVLTNLNIGAELLRDPSL
  GAQFRVHLVKMVILTEPEGAPNITANLTSSLLSVCGWSQTINPEDDTDPGHADLVLYITR
  FDLELPDGNRQVRGVTQLGGACSPTWSCLITEDTGFDLGVTIAHEIGHSFGLEHDGAPGS
  GCGPSGHVMASDGAAPRAGLAWSPCSRRQLLSLLSAGRARCVWDPPRPQPGSAGHPPDAQ
  PGLYYSANEQCRVAFGPKAVACTFAREHLDMCQALSCHTDPLDQSSCSRLLVPLLDGTEC
  GVEKWCSKGRCRSLVELTPIAAVHGRWSSWGPRSPCSRSCGGGVVTRRRQCNNPRPAFGG
  RACVGADLQAEMCNTQACEKTQLEFMSQQCARTDGQPLRSSPGGASFYHWGAAVPHSQGD
  ALCRHMCRAIGESFIMKRGDSFLDGTRCMPSGPREDGTLSLCVSGSCRTFGCDGRMDSQQ
  VWDRCQVCGGDNSTCSPRKGSFTAGRAREYVTFLTVTPNLTSVYIANHRPLFTHLAVRIG
  GRYVVAGKMSISPNTTYPSLLEDGRVEYRVALTEDRLPRLEEIRIWGPLQEDADIQVYRR
  YGEEYGNLTRPDITFTYFQPKPRQAWVWAAVRGPCSVSCGAGLRWVNYSCLDQARKELVE
  TVQCQGSQQPPAWPEACVLEPCPPYWAVGDFGPCSASCGGGLRERPVRCVEAQGSLLKTL
  PPARCRAGAQQPAVALETCNPQPCPARWEVSEPSSCTSAGGAGLALENETCVPGADGLEA
  PVTEGPGSVDEKLPAPEPCVGMSCPPGWGHLDATSAGEKAPSPWGSIRTGAQAAHVWTPA
  AGSCSVSCGRGLMELRFLCMDSALRVPVQEELCGLASKPGSRREVCQAVPCPARWQYKLA
  ACSVSCGRGVVRRILYCARAHGEDDGEEILLDTQCQGLPRPEPQEACSLEPCPPRWKVMS
  LGPCSASCGLGTARRSVACVQLDQGQDVEVDEAACAALVRPEASVPCLIADCTYRWHVGT
  WMECSVSCGDGIQRRRDTCLGPQAQAPVPADFCQHLPKPVTVRGCWAGPCVGQGTPSLVP
  HEEAAAPGRTTATPAGASLEWSQARGLLFSPAPQPRRLLPGPQENSVQSSACGRQHLEPT
  GTIDMRGPGQADCAVAIGRPLGEVVTLRVLESSLNCSAGDMLLLWGRLTWRKMCRKLLDM
  TFSSKTNTLVVRQRCGRPGGGVLLRYGSQLAPETFYRECDMQLFGPWGEIVSPSLSPATS
  NAGGCRLFINVAPHARIAIHALATNMGAGTEGANASYILIRDTHSLRTTAFHGQQVLYWE
  SESSQAEMEFSEGFLKAQASLRGQYWTLQSWVPEMQDPQSWKGKEGT

• Sequence length: 1427

Pathways

KEGG:

Platelet activation

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

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
Abnormal bleeding	Pathogenic	rs748223519	RCV001270504	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ADAMTS13-related disorder	Likely pathogenic; Pathogenic	rs1564422441, rs782242503, rs2491124231, rs2491164601, rs142572218, rs281875287	RCV003399196 RCV003402848 RCV003394368 RCV003427824 RCV003952487 RCV003894915	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Pathogenic	rs748223519	RCV001270504	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombotic thrombocytopenic purpura	Pathogenic; Likely pathogenic	rs2491349636, rs121908470, rs121908472, rs2491047604, rs2491103284, rs1554791280, rs281875299, rs142572218	RCV004700837 RCV006268071 RCV004700192 RCV003493333 RCV004587743 RCV000677341 RCV000852051 RCV002469002	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Upshaw-Schulman syndrome	Likely pathogenic; Pathogenic	rs374840594, rs782649881, rs1474290508, rs1841759683, rs2130845614, rs201457594, rs1554796161, rs200847393, rs2130769073, rs1554795391, rs376606652, rs2490464967, rs1840019690, rs374655146, rs782288601, rs121908467, rs121908468, rs121908469, rs121908470, rs121908471, rs121908472, rs387906341, rs387906342, rs387906343, rs121908474, rs121908475, rs121908476, rs121908477, rs387906344, rs786205077, rs121908478, rs786205078, rs387906345, rs387906346, rs2491219604, rs782547718, rs782242503, rs782716712, rs903245146, rs2490499610, rs782463983, rs1060499780, rs1554797078, rs1554789680, rs375415632, rs1554785114, rs1588198044, rs281875288, rs281875338, rs281875307, rs281875300, rs142572218, rs281875340, rs281875291, rs281875287, rs281875337	RCV005040297 RCV005040301 RCV001536088 RCV001729960 RCV001729961 RCV001785886 RCV003990476 RCV005040408 RCV002223117 RCV002274487 RCV002274488 RCV002283699 RCV002283959 RCV002468903 RCV005045192 RCV000006154 RCV000006155 RCV000006156 RCV000006157 RCV000006158 RCV000006159 RCV000006161 RCV000006162 RCV000006163 RCV000006164 RCV000006165 RCV000006167 RCV000006168 RCV000006171 RCV000006173 RCV000006174 RCV000006175 RCV000006176 RCV000006177 RCV003225617 RCV003338169 RCV005047576 RCV005047630 RCV005040489 RCV003990403 RCV004545919 RCV000454327 RCV000505689 RCV000505577 RCV000778876 RCV000826095 RCV000988285 RCV005859492 RCV005042186 RCV000779575 RCV005042187 RCV000779576 RCV005042188 RCV002221146 RCV000516791 RCV003313775	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Three Vessel Coronary Disease	Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thrombus	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Kidney Insufficiency	Acute Kidney Insufficiency	BEFREE	26342041		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28207543		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31493291		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	30234545		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28207543		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	29972862		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	23225307		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	19786614		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	19786614, 32496441	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	12393505, 32197596	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	16368888, 28011677		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	LHGDN	18240172		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	27613177, 28457019		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	26759371		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29443370		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28634421, 30181741, 31185010		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	21732076		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28634421, 30181741, 31185010		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	23872162, 32196618, 36474435	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28618874, 29164570		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	12640381, 20613506, 23420593, 23555663, 23743117, 23847193, 24967890, 25135378, 25280590, 25951460, 26276936, 27175932, 28637667, 28662310, 29084740, 29222249, 30524124, 30905589, 31198222, 31409673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	21103695, 23847193, 26559391, 26830967, 35619721	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	31185010		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27132698, 27866840, 28791286		★☆☆☆☆ Found in Text Mining only
Autosomal dominant compelling helio ophthalmic outburst syndrome	Achoo syndrome	GWASCAT_DG	29559738		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	29337416, 29618154, 29885460, 29941674, 30099840, 30159948, 31516768		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	35667091, 36980889, 37085521	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	15009458, 15521921, 18443791, 19786614, 32588586	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	14644076		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30537115	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28927148		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26522853		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20378566	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19439298, 21843064, 21937160, 23159842, 24825749, 27514025, 29108103, 29615758, 30006329		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23733198, 27514025, 36474435	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	36142883	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32932544	Associate	★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	28591212		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	26745484		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	23872162, 36474435	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	32932544, 36474435	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16990571, 19648879, 19687510, 23225307, 27317583, 27412500, 28428179, 30152919, 30593735, 31185010, 31379722, 31431443		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	28591212		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28207543		★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	BEFREE	28628948		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	20947535, 29255356		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	20947535, 29255356		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29255356		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29972862		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	28591212		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31185010		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12091044		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29304532		★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement Component Deficiency	BEFREE	16409435		★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	33845193, 35619721	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30976044		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28981194		★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	11530798, 11530799, 11843286, 12172456, 12393505, 12576319, 12640381, 12656756, 14512317, 14563640, 14652658, 14727256, 14727262, 14982879, 15009458, 15126318, 15284596, 15327386, 15367436, 15551280, 15774620, 15869605, 16449289, 16898953, 17003922, 17187257, 17627784, 17849048, 18031293, 18443791, 18574602, 19054323, 19055667, 19786614, 19847791, 20032502, 20118810, 20539230, 21252531, 21531732, 21781265, 21901237, 22264931, 22378676, 22488907, 22529288, 22547583, 22783805, 23058857, 23188471, 23208954, 23233642, 23346910, 23420593, 23422353, 23715102, 23715103, 23715104, 23937165, 24033710, 24115559, 24401653, 24802084, 24816970, 24859360, 25242241, 25431165, 25442981, 26272487, 26342041, 27132698, 27665541, 27762046, 27866840, 27887777, 28254814, 28416507, 28550351, 28652401, 28833243, 28912376, 29040872, 29064619, 29304523, 29356300, 29554699, 29564686, 29763513, 29771863, 29945940, 30061898, 30178615, 30195146, 30312976, 30394580, 30475428, 30504354, 30762934, 30770395, 30861548, 30953939, 31431443, 31585956, 31685248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	UNIPROT_DG	11586351, 12181489, 12393505, 12614216, 12753286, 14512317, 14563640, 15009458, 15126318, 15327386, 16160007, 16449289, 16453338, 16796708, 16807643, 17003922, 18443791, 19055667, 19116307, 22075512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	GENOMICS_ENGLAND_DG	11586351, 12753286, 15521921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	CTD_human_DG	12656756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	CLINVAR_DG	12753286, 14563640, 14597993, 15126318, 15800115, 16453338, 16796708, 16807643, 17187257, 17627784, 18031293, 18481107, 19047683, 20647566, 21676167, 22529288, 23648131, 25442981, 25934476, 26081109, 27802307, 31064749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	ORPHANET_DG	25587650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital thrombotic thrombocytopenic purpura	Congenital Thrombotic Thrombocytopenic Purpura	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	26759371		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25937569, 30006329		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19427680, 25937569, 27536857, 29793936, 30006329		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25937569	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25937569, 30006329		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	20682599, 23648131, 26982741, 27802307		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29615758		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25975932		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27787621, 28634421, 29615758, 29976618, 30099840		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23733198, 30099840	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27787621, 28495930, 28634421, 29444972, 29615758, 29976618, 30099840, 30181741, 31248335		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23733198	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27787621		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	21531732		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28495930		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	16189276, 31758651		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	LHGDN	16189276		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	16189276	Associate	★☆☆☆☆ Found in Text Mining only
Encephalomyelitis Acute Disseminated	Acute disseminated encephalomyelitis	Pubtator	34685765	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	12753286	Associate	★☆☆☆☆ Found in Text Mining only
Factor XIII Deficiency	Factor xiii deficiency	Pubtator	26342041	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial Thrombotic Thrombocytopenic Purpura	Thrombotic thrombocytopenic purpura	GENOMICS_ENGLAND_DG	11586351, 15521921		★☆☆☆☆ Found in Text Mining only
Familial Thrombotic Thrombocytopenic Purpura	Thrombotic thrombocytopenic purpura	CTD_human_DG	12656756		★☆☆☆☆ Found in Text Mining only
Familial Thrombotic Thrombocytopenic Purpura	Thrombotic thrombocytopenic purpura	BEFREE	15800115, 9828245		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	27604194, 29067443		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	24460705, 27604194, 29067443		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	19640589		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	29296808		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28033504, 28207543		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30626079	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15774620		★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	12753286	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	15126318, 15327386, 21488199, 29084740	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	LHGDN	12130486		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	12376819, 12640381, 12660343, 15327386, 15551280, 16131569, 16388413, 16411392, 16449289, 19190808, 20539230, 21488199, 21902819, 25587650, 29178379, 29222940, 30177262, 30524124, 9828245		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	18725999	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic Disorders	BEFREE	29443370		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	15284596		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia Neonatal	Hyperbilirubinemia	Pubtator	14563640	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32196618	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30655285, 31248335		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30655285		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	30655285		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35875995	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	CTD_human_DG	19260037		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25975932, 31185010		★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	28775254		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28765701		★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	37175682	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	32932544	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	16990571, 23225307, 28591212, 29615758, 29618156, 30006329, 30770395, 31379722, 31585956		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	28495826		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26342041, 39614241	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	14727262, 16189276, 16449289, 28139439		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	23872162	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	16449289, 29942494, 30461292		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	20947535, 29255356		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28033504, 30322352		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20664912, 31139312, 31638892		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	15710227, 18521503		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29849584, 29972862, 31139312		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	20664912		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30008460		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	28786769		★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	LHGDN	18332284		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28927148		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28033504, 28207543, 28898897, 30429491		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	11530798, 15009067, 16368888, 16794526, 16796708		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37258039	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25975932		★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	BEFREE	19847791, 31131442, 31685248		★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	15009458, 17146059	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	25431165		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	17650455		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	31055186		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29758118		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17053057, 18194418		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21531732, 22915644, 27317583, 30471507		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30099840		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	30099840	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14727262		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21732076		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	24460705		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28374895		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	24460705, 27604194, 29067443		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25813552, 27530508, 27604194, 29121438, 29674502, 31778944		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	LHGDN	18240172		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	18609162		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	24967890		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	34973089	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	27317583		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	27317583		★☆☆☆☆ Found in Text Mining only
Petechiae	Petechiae	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	29849584		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29615758		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	12753286	Associate	★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	11380451, 11557746, 11586351, 12172456, 12393505, 12395148, 12430913, 12434890, 12576319, 12614216, 12615692, 12640381, 12656756, 12660343, 12753286, 14512317, 14564205, 14652658, 14727254, 14727256, 14727257, 14727262, 14727263, 14976043, 14982879, 15009067, 15009458, 15045144, 15327386, 15333037, 15367436, 15497097, 15521921, 15662617, 15774620, 15800115, 16102032, 16113782, 16160007, 16189276, 16200209, 16203734, 16368888, 16388413, 16388417, 16411392, 16533881, 16575683, 16760911, 16796708, 16807643, 16898953, 17003922, 17187257, 17426255, 17525362, 17593509, 17627784, 18031293, 18083848, 18339897, 18481107, 18574602, 18661493, 18756543, 18807073, 18957966, 19054323, 19116307, 19141866, 19180123, 19640589, 19648879, 19786614, 19851089, 19922436, 20032502, 20058209, 20088924, 20391299, 20539230, 21133861, 21252531, 21531732, 21535387, 21724217, 21843064, 21901237, 21902819, 22022775, 22264931, 22289888, 22529289, 22547583, 22783805, 22927184, 23058857, 23208954, 23233642, 23415418, 23420593, 23422353, 23555663, 23621748, 23715102, 23715103, 23743117, 23847193, 23937165, 24033710, 24401653, 24449821, 24460705, 24713928, 24802084, 24950743, 24967890, 24977290, 24994604, 25280590, 25339550, 25367325, 25431165, 25442981, 25587650, 25671313, 25813552, 25951460, 26276936, 26386489, 26559391, 26566785, 26581428, 26759371, 26830967, 27132698, 27232383, 27246502, 27371116, 27479501, 27514025, 27720178, 27762046, 27866840, 27887777, 28011677, 28033504, 28083876, 28110841, 28139813, 28279966, 28325251, 28369949, 28380082, 28416507, 28455885, 28499011, 28500622, 28521259, 28550351, 28576877, 28596255, 28637667, 28645643, 28646526, 28662310, 28751567, 28764998, 28768626, 28774273, 28791286, 28796639, 28884355, 28981198, 29064619, 29121438, 29130141, 29178379, 29219891, 29222249, 29228282, 29250148, 29296701, 29296757, 29304523, 29356300, 29564686, 29567368, 29621007, 29636514, 29674502, 29728803, 29737462, 29763513, 29777164, 29889319, 29920743, 29945940, 30006329, 30061898, 30178615, 30195146, 30232206, 30234545, 30235483, 30279260, 30340093, 30354235, 30504354, 30504355, 30543580, 30551950, 30593735, 30629316, 30861548, 30917902, 30928346, 30930238, 30953939, 31107120, 31167181, 31198222, 31330376, 31409673, 31431443, 31516768, 31585956, 31587247, 31724781, 31753928, 31778944, 9129011, 9828245		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	LHGDN	11586344, 11586351, 12091372, 12130486, 12395148, 12615692, 12753286, 12855569, 14512317, 14727254, 14727257, 15009458, 15126318, 15710227, 15865866, 16391894, 16953270, 17725738, 17849048, 18031293, 18223285, 18756543, 18833927, 19069166, 19190804		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	CTD_human_DG	12656756		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	GENOMICS_ENGLAND_DG	15521921		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	16449289, 23159842, 26342041		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	16189276, 19812385	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	16189276, 20390223, 22091998, 23669075, 28634421, 28635017, 29337416, 30159948, 30222856, 31086585, 31248335, 31758651		★☆☆☆☆ Found in Text Mining only
Severe depression	Mental Depression	BEFREE	25975932		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27604194, 29067443		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32932544, 40650005	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	24679129, 28102428, 29077161, 29729651		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29130325, 29760619		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	19786614, 23872162, 32197596, 32496441	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytosis	Thrombocytosis	BEFREE	29304532		★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	32817637	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	23159842, 28374895, 31139312		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11781222, 23648131, 27514025, 32588586, 34685765, 36980889	Associate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	11781222, 12172456, 12660343, 14727262, 15662617, 16102032, 16411392, 16449289, 16575684, 16794526, 18215115, 18481107, 20391299, 20644116, 20947535, 21133861, 21238935, 21531732, 21732076, 22529289, 23420593, 23555663, 23635876, 24033710, 24067439, 24449821, 25280590, 25403270, 25587650, 25951460, 26276936, 26559391, 26613809, 27132698, 27177491, 27232383, 27479501, 27720178, 27762046, 27771173, 27887777, 28139439, 28259520, 28380082, 28499011, 28512098, 28635017, 28637667, 28646526, 28662310, 28796639, 29064619, 29080561, 29106071, 29222249, 29329518, 29337416, 29737462, 29875054, 29942494, 30006329, 30008460, 30208220, 30222856, 30312976, 31177334, 31367625, 31409673, 31587247, 31652001		★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	CTD_human_DG	14625834, 16388419		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	30897531		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28765701		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	15521921	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28495930		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	37085521, 38225166	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	20682599, 23648131, 26982741, 27802307, 34662354, 38149559	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29976618		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	16322474, 17087728, 20200350, 20351307, 23446343, 26456374, 30692122		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	LHGDN	17087728		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 1	Von willebrand disorder	Pubtator	14525793	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	15219197, 16322474, 17087728, 18725999, 20351307, 29186156	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 3	Von willebrand disorder	Pubtator	22431572	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 1	von Willebrand disorder	BEFREE	14525793, 15166929, 15755288, 16681634		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2A	Von Willebrand Disorder	BEFREE	21937160, 29186156		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2B	Von Willebrand Disorder	BEFREE	17087728, 20200350		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	30224328		★☆☆☆☆ Found in Text Mining only