SERPING1 (serpin family G member 1)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 710
• Gene name: Serpin family G member 1
• Gene symbol: SERPING1
• Synonyms (NCBI Gene): C1IN, C1INH, C1NH, HAE1, HAE2
• Chromosome: 11
• Chromosome location: 11q12.1
• Summary: This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It i

SNPs Show/Hide all (57)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940870	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs112565881	G>A,T	Pathogenic	Splice donor variant
rs121907947	G>A	Pathogenic	Coding sequence variant, missense variant
rs121907948	G>A,C,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs121907949	T>A	Pathogenic	Coding sequence variant, missense variant
rs121907950	C>T	Pathogenic	Coding sequence variant, missense variant
rs121907951	C>G	Pathogenic	Coding sequence variant, stop gained
rs201363394	C>T	Pathogenic	Coding sequence variant, missense variant
rs281875170	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs606231141	->TGT	Pathogenic	Coding sequence variant, inframe indel
rs763451792	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs778625408	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs886041353	G>A	Pathogenic	Splice acceptor variant
rs922149386	C>T	Pathogenic	Stop gained, coding sequence variant
rs956390201	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs978962357	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520366	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793350	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793792	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793917	AGTTCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307611	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554994665	G>T	Likely-pathogenic	Intron variant
rs1554994909	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554995260	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554995271	A>TCAGTGTCGTG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1554995774	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554995860	C>G	Pathogenic	Coding sequence variant, stop gained
rs1554996817	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554996819	->A	Pathogenic	Coding sequence variant, stop gained
rs1554996833	GA>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554996859	CAAGTTCC>A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565168898	A>C,G	Pathogenic	Missense variant, initiator codon variant
rs1565169419	A>T	Pathogenic	Coding sequence variant, stop gained
rs1565169621	TACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565170287	ATCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565170364	TC>AA	Pathogenic	Coding sequence variant, stop gained
rs1565171906	C>T	Pathogenic	Coding sequence variant, stop gained
rs1565173309	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565173405	T>A	Pathogenic	Coding sequence variant, stop gained
rs1565174105	C>T	Pathogenic	Coding sequence variant, stop gained
rs1590821401	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1590822296	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590822371	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590822588	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590822719	AGACCAACATGG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1590822739	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590823884	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1590826571	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1590826703	T>C	Pathogenic	Coding sequence variant, missense variant
rs1590829609	C>T	Pathogenic	Coding sequence variant, stop gained
rs1590829616	GCTGCAGCTCTCCCA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1590829685	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1590829763	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590831385	->GAACTGAC	Pathogenic	Coding sequence variant, inframe insertion, stop gained
rs1590831432	C>T	Pathogenic	Coding sequence variant, missense variant
rs1590831492	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1590831545	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA Show/Hide all (311)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018847	hsa-miR-335-5p	Microarray	18185580
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT611745	hsa-miR-5695	HITS-CLIP	19536157
MIRT611744	hsa-miR-873-3p	HITS-CLIP	19536157
MIRT611743	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT611741	hsa-miR-3672	HITS-CLIP	19536157
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	19536157
MIRT611739	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT611745	hsa-miR-5695	HITS-CLIP	19536157
MIRT611743	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT611739	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT641421	hsa-miR-128-3p	HITS-CLIP	23824327
MIRT641420	hsa-miR-216a-3p	HITS-CLIP	23824327
MIRT641419	hsa-miR-3681-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT620861	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT620860	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT620859	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT620856	hsa-miR-4284	HITS-CLIP	23824327
MIRT620855	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT620854	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT620853	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT620852	hsa-miR-4507	HITS-CLIP	23824327
MIRT620851	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT620861	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT620860	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT620859	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT620858	hsa-miR-635	HITS-CLIP	23824327
MIRT620857	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT620856	hsa-miR-4284	HITS-CLIP	23824327
MIRT620855	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT620854	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT620853	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT620852	hsa-miR-4507	HITS-CLIP	23824327
MIRT620851	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT542324	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT542323	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542322	hsa-miR-6742-3p	PAR-CLIP	21572407
MIRT542321	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT542320	hsa-miR-4793-3p	PAR-CLIP	21572407
MIRT542319	hsa-miR-6776-5p	PAR-CLIP	21572407
MIRT542318	hsa-miR-661	PAR-CLIP	21572407
MIRT542317	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT542315	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT542316	hsa-miR-7703	PAR-CLIP	21572407
MIRT542314	hsa-miR-1262	PAR-CLIP	21572407
MIRT542313	hsa-miR-4701-3p	PAR-CLIP	21572407
MIRT542312	hsa-miR-6736-5p	PAR-CLIP	21572407
MIRT542311	hsa-miR-498	PAR-CLIP	21572407
MIRT542310	hsa-miR-1273g-3p	PAR-CLIP	21572407
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT611745	hsa-miR-5695	HITS-CLIP	19536157
MIRT611744	hsa-miR-873-3p	HITS-CLIP	19536157
MIRT611743	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT611741	hsa-miR-3672	HITS-CLIP	19536157
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	19536157
MIRT611739	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT611745	hsa-miR-5695	HITS-CLIP	19536157
MIRT611743	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT611739	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT641421	hsa-miR-128-3p	HITS-CLIP	23824327
MIRT641420	hsa-miR-216a-3p	HITS-CLIP	23824327
MIRT641419	hsa-miR-3681-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT620861	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT620860	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT620859	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT620856	hsa-miR-4284	HITS-CLIP	23824327
MIRT620855	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT620854	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT620853	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT620852	hsa-miR-4507	HITS-CLIP	23824327
MIRT620851	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT620861	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT620860	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT620859	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT620858	hsa-miR-635	HITS-CLIP	23824327
MIRT620857	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT620856	hsa-miR-4284	HITS-CLIP	23824327
MIRT620855	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT620854	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT620853	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT620852	hsa-miR-4507	HITS-CLIP	23824327
MIRT620851	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611746	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT611745	hsa-miR-5695	HITS-CLIP	23824327
MIRT611744	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT611743	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT611742	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT611741	hsa-miR-3672	HITS-CLIP	23824327
MIRT611740	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT611739	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT542324	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT542323	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542322	hsa-miR-6742-3p	PAR-CLIP	21572407
MIRT542321	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT542320	hsa-miR-4793-3p	PAR-CLIP	21572407
MIRT542319	hsa-miR-6776-5p	PAR-CLIP	21572407
MIRT542318	hsa-miR-661	PAR-CLIP	21572407
MIRT542317	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT542315	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT542316	hsa-miR-7703	PAR-CLIP	21572407
MIRT542314	hsa-miR-1262	PAR-CLIP	21572407
MIRT542313	hsa-miR-4701-3p	PAR-CLIP	21572407
MIRT542312	hsa-miR-6736-5p	PAR-CLIP	21572407
MIRT542311	hsa-miR-498	PAR-CLIP	21572407
MIRT542310	hsa-miR-1273g-3p	PAR-CLIP	21572407

Gene ontology (GO) Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001869	Process	Negative regulation of complement activation, lectin pathway	IDA	10946292
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	11527969
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	10570951, 10946292, 16237761, 22046132, 22483117, 25359215, 25910212, 28484054, 28742139, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0008015	Process	Blood circulation	TAS	2365061, 2563376
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0042730	Process	Fibrinolysis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 606860
• HGNC: 1228
• e!Ensembl: ENSG00000149131

Protein

• UniProt ID: P05155
• Protein name: Plasma protease C1 inhibitor (C1 Inh) (C1Inh) (C1 esterase inhibitor) (C1-inhibiting factor) (Serpin G1)
• Protein function: Serine protease inhibitor, which acrs as a regulator of the classical complement pathway (PubMed:10946292, PubMed:11527969, PubMed:3458172, PubMed:6416294). Forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases (P
• PDB: 2OAY , 5DU3 , 5DUQ , 7AKV , 8W18
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00079	Serpin	144 → 498	Serpin (serine protease inhibitor)	Domain

• Sequence:

  MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPIL
  EVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTG
  SFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQ
  VLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNAS
  RTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWK
  TTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVP
  QNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFD
  FSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFV
  LWDQQHKFPVFMGRVYDPRA

• Sequence length: 500

Pathways

KEGG Pathway	Reactome Pathway
Complement and coagulation cascades	Platelet degranulation
Pertussis	Intrinsic Pathway of Fibrin Clot Formation
	Regulation of Complement cascade

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 Show/Hide Causal Diseases (7)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Angioedema	Likely pathogenic; Pathogenic	rs1554995255, rs2495426328, rs2135308859, rs2495426787, rs2495425264, rs2135324767, rs2495452187, rs978962357, rs1590821401	RCV004579542 RCV004595711 RCV004584248 RCV004584270 RCV004595826 RCV004595835 RCV004595837 RCV000490705 RCV000850285	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
C1 inhibitor deficiency	Pathogenic	rs2135328243, rs1590822296	RCV002208779 RCV005049683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary angioedema type 1	Likely pathogenic; Pathogenic	rs2135318127, rs1945480328, rs281875174, rs2135308831, rs2135311324, rs2135311222, rs2135328208, rs2135328243, rs2135308550, rs2135327898, rs2495440974, rs28940870, rs1554996819, rs1554996817, rs112565881, rs2495457970, rs2135304804, rs121907951, rs1554995255, rs1554995860, rs886041353, rs2135324770, rs2495452603, rs2495440350, rs2495442672, rs2495426601, rs1362220560, rs2495442396, rs2135324885, rs2495426038, rs1291031675, rs1565171672, rs2495440304, rs2495452135, rs2495452078, rs2495452074, rs766491693, rs2495458071, rs2495458312, rs2495431242, rs2495442313, rs2495452418, rs2495452487, rs2495457863, rs2495457910, rs2495458466, rs2495442467, rs2135308859, rs112666115, rs1314284778, rs2495425174, rs1470120365, rs2495452721, rs1945518132, rs2495458168, rs2495441109, rs2495440966, rs2495440471, rs2495458739, rs1590826505, rs2495440958, rs2495431104, rs2495420852, rs2495420847, rs2495440530, rs2495440402, rs2495431072, rs2495421098, rs2495426301, rs2495421134, rs2495424954, rs2495426314, rs2495426721, rs2495430954, rs2495431295, rs2495458494, rs2495452578, rs2495442432, rs2495440645, rs2495452889, rs2495458627, rs2495425144, rs2495452742, rs2495452442, rs2495425169, rs1565169693, rs1263371770, rs1554995774, rs763451792, rs1554995271, rs1554996833, rs1554995260, rs1565169419, rs1565173405, rs1565168898, rs1590822296, rs1565169621, rs1565170287, rs1565170364, rs1565171906, rs1565173309, rs1565174105, rs922149386, rs1590822719, rs1590822588, rs1590822739, rs1590823884, rs1590826571, rs1590829609, rs1590829616, rs1590829763, rs1590831385, rs1590831432, rs956390201, rs1590831545, rs1590829685, rs778625408, rs281875178, rs281875168, rs281875170, rs281875171, rs1590822371, rs1945310324, rs1945307391, rs1945416520, rs1945329402, rs1945331796, rs1945353409, rs1945404833, rs1945410259, rs1945411910, rs1945481508	RCV001374628 RCV004671425 RCV004587197 RCV004587198 RCV004577957 RCV004691455 RCV004596499 RCV002208779 RCV002244080 RCV004595656 RCV004698574 RCV000768683 RCV000004155 RCV000004156 RCV000004157 RCV000004158 RCV000004162 RCV000004163 RCV000508641 RCV000508612 RCV004595502 RCV003320016 RCV004579620 RCV004577694 RCV004577704 RCV004577705 RCV004577706 RCV004577707 RCV004577708 RCV004577709 RCV004577934 RCV004577970 RCV004577971 RCV004577972 RCV004577973 RCV004577974 RCV004577975 RCV004577987 RCV004577988 RCV004578021 RCV004578022 RCV004578023 RCV004579637 RCV004579638 RCV004579639 RCV004579640 RCV004579642 RCV004584152 RCV004584247 RCV005871518 RCV004584268 RCV004584269 RCV004584276 RCV004584277 RCV004586442 RCV004586444 RCV004586445 RCV004586446 RCV004586447 RCV004586448 RCV004586449 RCV004586451 RCV004586452 RCV004586453 RCV004586454 RCV004593549 RCV004593551 RCV004595810 RCV004595811 RCV004595812 RCV004595813 RCV004595822 RCV004595823 RCV004595824 RCV004595825 RCV004595827 RCV004595828 RCV004595829 RCV004595834 RCV004595836 RCV004698365 RCV004595839 RCV004595840 RCV004595841 RCV004595850 RCV004595851 RCV004595865 RCV004595866 RCV004597219 RCV004691676 RCV004732515 RCV004691788 RCV000576893 RCV000576891 RCV000768685 RCV000677372 RCV000758137 RCV000758138 RCV000768692 RCV000768691 RCV000768688 RCV000768690 RCV000768695 RCV000768689 RCV000768687 RCV000768694 RCV000768693 RCV000768686 RCV000856829 RCV000851280 RCV000851281 RCV000851277 RCV000851273 RCV000851275 RCV000851285 RCV000851283 RCV000851276 RCV000851284 RCV000851282 RCV000851278 RCV000853399 RCV000856823 RCV004586533 RCV004579536 RCV004586534 RCV000768681 RCV004691742 RCV005871113 RCV001030448 RCV001090004 RCV001090005 RCV001253494 RCV001258388 RCV001258389 RCV001258390 RCV001258391 RCV001258392 RCV001258393 RCV001258394	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary angioedema with C1Inh deficiency	Pathogenic; Likely pathogenic	rs2135307959, rs2135311344, rs2135311395, rs2135317558, rs2135317617, rs2135317696, rs2135317718, rs2135318252, rs2135318269, rs2135318339, rs2135318396, rs2135324476, rs2135324565, rs2135324578, rs2135324746, rs2135324760, rs1945480328, rs2135324885, rs281875174, rs2135328051, rs1450674538, rs2135308147, rs1945516584, rs1945516624, rs2135308182, rs2135308228, rs2135308232, rs2135308831, rs2135308859, rs2135311324, rs2135308522, rs2135317631, rs750873571, rs2495426294	RCV002221642 RCV002221643 RCV002221644 RCV002221645 RCV002221646 RCV002221647 RCV002221648 RCV002221649 RCV002221650 RCV002221651 RCV002221652 RCV002221654 RCV002221655 RCV002221656 RCV002221657 RCV002221658 RCV002221659 RCV002221660 RCV002221661 RCV002221662 RCV002221663 RCV002221664 RCV002221665 RCV002221666 RCV002221667 RCV002221668 RCV002221669 RCV002221670 RCV002221671 RCV002221672 RCV002250381 RCV002250382 RCV002259399 RCV002463183	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	Pathogenic	rs121907947, rs28940870, rs121907949, rs606231141	RCV000004151 RCV000004153 RCV000004154 RCV000004159 RCV000004160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs281875170	RCV005890404	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SERPING1-related disorder	Likely pathogenic; Pathogenic	rs2135318127, rs2495440825, rs922149386, rs1945411910	RCV003394016 RCV003899660 RCV003392582 RCV005250170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (24)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANGIOEDEMA, HEREDITARY, 1	—	HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMAS, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	19477491, 23406939, 23634741, 23844784, 23866957, 9734886	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANGIOEDEMA TYPE 2	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	24456027, 24456027	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANGIOEDEMA TYPE I	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANGIOEDEMA TYPES I AND II	—	CTD, Disgenet CTD, Disgenet	15806011, 1644161, 18387221	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary angioneurotic edema	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	26396155	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	27935865	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	CTD, Disgenet CTD, Disgenet	4014294	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	29942085	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	38637617	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (172)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired angioedema	Angioedema	BEFREE	15356535, 16630950, 16835976, 17547847, 18204284, 19331715, 23137231, 23406939, 27113957, 27501129, 2926086, 30073422, 31397881, 8856187, 9777420		★☆☆☆☆ Found in Text Mining only
Acquired angioedema	Angioedema	CTD_human_DG	23406939, 9734886		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	17068406		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31058156		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	20231622	Associate	★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	26795750		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	18842294, 19169411, 19607829, 20062564, 20122735, 20576771, 20606025, 21526158, 21852020, 22594510, 22618592, 25352749, 25800435		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	12925575, 21115126		★☆☆☆☆ Found in Text Mining only
Angioedema	Angioedema	Pubtator	15356535, 25401373, 36787826, 6976242	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angioedema	Angioedema	Pubtator	23661661	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angioedemas Hereditary	Angioedema	Pubtator	11315937, 12773530, 15356535, 1611187, 16617246, 18035804, 18250972, 1885769, 1902490, 20955596, 2318974, 23437219, 24850548, 25053016, 26535898, 27725554, 28194776, 2890659, 29166502, 30044938, 30118244, 30146609, 30398465, 30530986, 31488451, 31933486, 31959500, 32066472, 32351099, 32996899, 33640192, 33799813, 34453809, 34838707, 35821062, 36203598, 36787826, 36858856, 37114700, 37301409, 376558, 38142864, 38340462, 39272138, 3965500, 6174161, 6976242, 8329703, 8450054, 9519866	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	15607116, 18460017, 37620742	Inhibit	★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	10203164, 10376461, 10719305, 10963200, 11139243, 11161971, 11231704, 1167046, 11700154, 11933207, 11956243, 12063530, 12088455, 12144636, 12396014, 12402344, 12706530, 12752129, 12925575, 1339401, 1342916, 1363816, 1451784, 14572810, 14572813, 14572816, 14572817, 1459574, 14635117, 14747456, 15356570, 15580551, 15833691, 15875532, 15902525, 1595700, 15971231, 16210064, 16217168, 16271103, 16353410, 16409206, 16445789, 16572743, 16617246, 16630950, 1674681, 16750855, 16835976, 1684567, 1688910, 17068406, 17085286, 17165268, 17177958, 17547847, 17559913, 17614974, 17761272, 17873543, 17941288, 17976427, 18035804, 18035961, 18220145, 18387221, 18535392, 18586324, 1864632, 18655790, 18758157, 1885769, 19162547, 19474702, 19492656, 19656474, 19706314, 19752569, 19843402, 19843403, 20024535, 20052501, 2013670, 20143645, 20384613, 20628406, 20635155, 20649895, 20674826, 20695852, 20804470, 20806108, 2118657, 21300570, 2154751, 21550133, 21607669, 21623829, 21790735, 21849258, 21864911, 22001489, 22014012, 22149337, 22185738, 22299312, 2244865, 22568407, 2276734, 22801442, 22882460, 2296585, 23123409, 23137231, 23394603, 23406928, 23406930, 23406939, 23437219, 23583915, 23634741, 2365061, 2371584, 23940538, 23994767, 24013493, 24068129, 24176211, 24412907, 24456027, 24468257, 24484972, 24552232, 24565612, 24760113, 2499461, 25053016, 25134986, 25369003, 25645939, 25689810, 25758562, 25790805, 25800206, 25872948, 25952149, 26154504, 26161706, 26248961, 26392288, 26496459, 26535898, 26751894, 26812872, 26895475, 27018196, 27113957, 27116602, 27130860, 27187751, 2723063, 27246526, 27271546, 27273087, 27287037, 2736814, 27503784, 27826968, 27905115, 28069032, 28093999, 28115964, 28178173, 28194776, 28222330, 28251901, 28284781, 28284978, 28328347, 28412283, 28441992, 28577900, 28601681, 28662509, 28668241, 28687106, 28687107, 28687110, 2868818, 28692169, 28715060, 28754491, 28795768, 28825570, 28903805, 2890659, 28939396, 28966616, 28986975, 29056074, 29059678, 29128335, 29166502, 2926086, 29318628, 2934317, 2935973, 29391286, 29423395, 294325, 29513108, 29548426, 29569504, 29623547, 29631595, 29688579, 29728119, 29753808, 29909591, 29920929, 29957871, 29958877, 29998524, 30021471, 30044938, 30059156, 30083168, 30118244, 30131260, 30132643, 30176179, 30267321, 30278448, 30280305, 30333824, 30386384, 30386386, 30386388, 30389558, 30398465, 30462774, 30463937, 30479631, 30504393, 30530986, 30539362, 30582490, 30682573, 30685616, 30772477, 30817230, 30827947, 30847342, 30883006, 30899278, 30968444, 31058156, 31130964, 31236395, 31262382, 31347612, 31366623, 31395105, 31402201, 31421540, 31485239, 31517426, 31591028, 31616213, 31635497, 31655295, 31676220, 31690390, 3178731, 31788005, 31796151, 31841366, 3587308, 376558, 3801312, 3818946, 3851703, 3889200, 4107267, 433971, 449665, 4935379, 6174161, 6222104, 6410904, 6833491, 6976242, 712189, 7172497, 7437306, 7464402, 7750982, 7852321, 7872288, 7937817, 8046257, 8125476, 8127898, 8165053, 8330878, 8396558, 8403537, 841567, 8450054, 8529136, 8560420, 8574434, 8628358, 8636653, 8683145, 8733381, 8753851, 8792821, 8856187, 9191888, 9519866, 9538488, 9579556, 9647267, 9661687, 9777419, 9777421, 9785079, 9990865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas, Hereditary	Angioedema	LHGDN	11933207, 15596402		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas, Hereditary	Angioedema	CTD_human_DG	19477491, 23406939, 23634741, 23844784, 23866957, 9734886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas, Hereditary	Angioedema	GENOMICS_ENGLAND_DG	7883978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior uveitis	Uveitis	BEFREE	23966370		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29391286		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29391286		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	36515245	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29567681		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21385363, 37426666	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23778267, 29036225		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29567681		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28687105, 9316773		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31300605		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30379966	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	29974607		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	33730015, 37003465	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29299869		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	31434864	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37109602	Associate	★☆☆☆☆ Found in Text Mining only
C1 inhibitor deficiency	C1 Inhibitor Deficiency	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carbamoyl-Phosphate Synthase I Deficiency Disease	Carbamoyl Phosphate Synthase Deficiency	BEFREE	1864632, 31841366		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31788074		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	31434864	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29567681		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	10954247, 19426146		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29427759		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28753292		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32660089	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component 4, Partial Deficiency Of	Complement Component Deficiency	GENOMICS_ENGLAND_DG	7883978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Component 4, Partial Deficiency Of	Complement Component Deficiency	ORPHANET_DG	7883978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Component 4, Partial Deficiency Of	Complement Component Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Component C1s Deficiency	Complement component deficiency	Pubtator	26154504, 26535898, 2890659, 29166502, 31959500, 37620742	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	BEFREE	2736814, 30405598		★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	7883978		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	11908809		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	36515245	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30504336		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	36515245	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10954247		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	20649895, 31788074		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35870967	Associate	★☆☆☆☆ Found in Text Mining only
Dermatographic urticaria	Dermatographic urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26989329, 31524257		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32778679	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26989329		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26795750		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	11315937, 20955596, 30530986, 32351099	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29572748		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31206169		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	20606025, 22594510		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	26396155		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	30961953		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	22417938		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31620245		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33009892	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31620245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	33009892	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	8227070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	BEFREE	2736814		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	30356754	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	22594510, 25800435		★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	28707765	Inhibit	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	4014294		★☆☆☆☆ Found in Text Mining only
Hereditary angioedema type 1	Angioedema	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary angioedema type 2	Hereditary Angioedema	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type I	Angioedema	UNIPROT_DG	12773530, 1363816, 1451784, 14635117, 16409206, 2118657, 2296585, 22994404, 2365061, 24456027, 3178731, 7814636, 7883978, 8172583, 8529136, 8755917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type I	Angioedema	CTD_human_DG	15806011, 1644161, 18387221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type I	Angioedema	BEFREE	22882460, 25053016, 28284781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type I	Angioedema	ORPHANET_DG	24456027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type I	Angioedema	CLINVAR_DG	28194776, 29753808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type I	Angioedema	GENOMICS_ENGLAND_DG	7883978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type II	Angioedema	CTD_human_DG	15806011, 1644161, 18387221		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type II	Angioedema	ORPHANET_DG	24456027		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Angioedema	BEFREE	19178407		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	26154504, 28194776, 34331949, 36787826, 37301409, 37620742, 38340462	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	37114700	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Types I and II	Angioedema	CTD_human_DG	15806011, 1644161, 18387221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Types I and II	Hereditary angioedema	Pubtator	23437219, 23940538, 2478540, 25053016, 30118244, 30398465, 30530986, 30918175, 32351099, 34838707, 36587848, 36858856, 9519866	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Types I and II	Hereditary angioedema	Pubtator	24850548	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary C1 esterase inhibitor deficiency - deficient factor	Hereditary C1 esterase inhibitor deficiency	ORPHANET_DG	24456027		★☆☆☆☆ Found in Text Mining only
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	Hereditary C1 esterase inhibitor deficiency	ORPHANET_DG	24456027		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	Hereditary C1 esterase inhibitor deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hodgkin Disease	Hodgkin Disease	BEFREE	26795750		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	39272138	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29299869		★☆☆☆☆ Found in Text Mining only
Jeune syndrome	Jeune syndrome	Pubtator	32066472	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	9191888		★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	29262557		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Leigh syndrome	Pubtator	37301409	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27473565	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16529817, 2157144, 8144555		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	26396155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29427759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	2157144, 8144555		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32179338	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27935865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31027344, 4096884		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	CTD_human_DG	4014294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33658651	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11908809, 26795750, 30866985		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	26795750		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	28687105, 30622569, 30866985		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	28687105, 30622569, 30866985		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	28687105, 30073422		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	18842294, 19169411, 19607829, 20161815, 20606025, 21526158, 25800435	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27935865		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31788074		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31620245		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29903461		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29903461, 30866985, 31300605		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30386386, 9316773		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22032772	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	20649895, 31788074		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	39272138	Associate	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	30866985		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28707765	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27333900, 27613120, 31701790		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36596079	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12396432		★☆☆☆☆ Found in Text Mining only
Myocardial necrosis	Myocardial necrosis	BEFREE	12396432		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18324346, 29903461		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9754962		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	27613120, 31701790		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	17502473		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29760609	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31788074		★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	28832655		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31620245		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	32351099	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	29395422		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10954247		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29903461		★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	28832655		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	12023831, 12925575, 15353322, 15787598, 16011217		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28005404		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	8617966		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28758643, 29249827, 30379966		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30379966	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	23607270		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	32066472	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases Vesiculobullous	Skin disease	Pubtator	32351099	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	15355908		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31628931		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	29058690		★☆☆☆☆ Found in Text Mining only
Stomatitis Aphthous	Aphthous stomatitis	Pubtator	21478439	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	29860607		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	34668383	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	9538488		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	23394603, 25689810, 25758562, 31749860, 8574434		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	17502473		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	LHGDN	17502473		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	37003465	Inhibit	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	37003465	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	31300605		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	23540732		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

F12 2 shared diseasesAngioedema, Hereditary angioedema 2 shared pathwaysComplement and coagulation cascades, Intrinsic Pathway of Fibrin Clot Formation 9 shared evidence sourcesCTD (Angioedema), HPO (Angioedema), Disgenet (Angioedema), Orphanet (Hereditary angioedema), ClinVar (Hereditary angioedema), GWAS catalog (Hereditary angioedema), ClinGen (Hereditary angioedema), Disgenet (Hereditary angioedema), CTD (Hereditary angioedema) Related via 2 shared diseases including Angioedema, Hereditary angioedema — evidence mostly CTD. A2M 2 shared diseasesLiver cirrhosis, Lung neoplasms 3 shared pathwaysComplement and coagulation cascades, Platelet degranulation , Intrinsic Pathway of Fibrin Clot Formation 3 shared evidence sourcesCTD (Liver cirrhosis), Disgenet (Liver cirrhosis), CTD (Lung neoplasms) Related via 3 shared pathways including Complement and coagulation cascades, Platelet degranulation — evidence mostly CTD. C1S 2 shared diseasesComplement component deficiency, Hereditary angioedema 3 shared pathwaysComplement and coagulation cascades, Pertussis, Regulation of Complement cascade 5 shared evidence sourcesCTD (Complement component deficiency), Disgenet (Complement component deficiency), HPO (Complement component deficiency), Disgenet (Hereditary angioedema), CTD (Hereditary angioedema) Related via 3 shared pathways including Complement and coagulation cascades, Pertussis — evidence mostly CTD. C8A 2 shared diseasesC1 esterase inhibitor deficiency, Complement component deficiency 2 shared pathwaysComplement and coagulation cascades, Regulation of Complement cascade 3 shared evidence sourcesCTD (Complement component deficiency), Disgenet (Complement component deficiency), HPO (Complement component deficiency) Related via 2 shared diseases including C1 esterase inhibitor deficiency, Complement component deficiency — evidence mostly CTD. C2 3 shared diseasesC1 esterase inhibitor deficiency, Complement component deficiency, Macular degeneration 3 shared pathwaysComplement and coagulation cascades, Pertussis, Regulation of Complement cascade 4 shared evidence sourcesCTD (Complement component deficiency), Disgenet (Complement component deficiency), HPO (Complement component deficiency), Disgenet (Macular degeneration) Related via 3 shared diseases including C1 esterase inhibitor deficiency, Complement component deficiency — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
F12	2	["Angioedema","Hereditary angioedema"]	2	["Complement and coagulation cascades","Intrinsic Pathway of Fibrin Clot Formation"]	9	["CTD (Angioedema)","HPO (Angioedema)","Disgenet (Angioedema)","Orphanet (Hereditary angioedema)","ClinVar (Hereditary angioedema)","GWAS catalog (Hereditary angioedema)","ClinGen (Hereditary angioedema)","Disgenet (Hereditary angioedema)","CTD (Hereditary angioedema)"]
A2M	2	["Liver cirrhosis","Lung neoplasms"]	3	["Complement and coagulation cascades","Platelet degranulation ","Intrinsic Pathway of Fibrin Clot Formation"]	3	["CTD (Liver cirrhosis)","Disgenet (Liver cirrhosis)","CTD (Lung neoplasms)"]
C1S	2	["Complement component deficiency","Hereditary angioedema"]	3	["Complement and coagulation cascades","Pertussis","Regulation of Complement cascade"]	5	["CTD (Complement component deficiency)","Disgenet (Complement component deficiency)","HPO (Complement component deficiency)","Disgenet (Hereditary angioedema)","CTD (Hereditary angioedema)"]
C8A	2	["C1 esterase inhibitor deficiency","Complement component deficiency"]	2	["Complement and coagulation cascades","Regulation of Complement cascade"]	3	["CTD (Complement component deficiency)","Disgenet (Complement component deficiency)","HPO (Complement component deficiency)"]
C2	3	["C1 esterase inhibitor deficiency","Complement component deficiency","Macular degeneration"]	3	["Complement and coagulation cascades","Pertussis","Regulation of Complement cascade"]	4	["CTD (Complement component deficiency)","Disgenet (Complement component deficiency)","HPO (Complement component deficiency)","Disgenet (Macular degeneration)"]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 3 of 5 related genesA2M, C1S, C2 Hypertension Linked via 2 of 5 related genesF12, C2 Myocardial infarction Linked via 2 of 5 related genesF12, C2 Hepatocellular carcinoma Linked via 2 of 5 related genesA2M, C2 Multiple sclerosis Linked via 2 of 5 related genesA2M, C2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	3	["A2M","C1S","C2"]
Hypertension	2	["F12","C2"]
Myocardial infarction	2	["F12","C2"]
Hepatocellular carcinoma	2	["A2M","C2"]
Multiple sclerosis	2	["A2M","C2"]