C3 (complement C3)

Gene

• Entrez ID: 718
• Gene name: Complement C3
• Gene symbol: C3
• Synonyms (NCBI Gene): AHUS5, ARMD9, ASP, C3a, C3b, CPAMD1, HEL-S-62p
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2230199	G>C,T	Risk-factor, benign	Coding sequence variant, missense variant
rs11569534	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs11569541	A>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs111595742	T>A,C	Pathogenic	Splice acceptor variant
rs121909583	C>T	Risk-factor	Coding sequence variant, missense variant
rs121909584	G>A	Risk-factor	Coding sequence variant, missense variant
rs121909585	C>T	Risk-factor	Coding sequence variant, missense variant
rs121909586	G>A,C	Risk-factor	Stop gained, coding sequence variant, synonymous variant
rs147859257	T>G	Uncertain-significance, benign, risk-factor	Missense variant, coding sequence variant
rs539992721	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs775015499	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs794729228	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1568229677	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599507415	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599510478	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1599518940	->G	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027814	hsa-miR-98-5p	Microarray	19088304
MIRT030181	hsa-miR-26b-5p	Microarray	19088304
MIRT696544	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT542444	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT542445	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT542443	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT696543	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT542441	hsa-miR-4486	HITS-CLIP	23313552
MIRT461959	hsa-miR-5186	HITS-CLIP	23313552
MIRT461958	hsa-miR-4537	HITS-CLIP	23313552
MIRT461952	hsa-miR-4252	HITS-CLIP	23313552
MIRT542439	hsa-miR-1273a	HITS-CLIP	23313552
MIRT542438	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT542437	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT461948	hsa-miR-1227-3p	HITS-CLIP	23313552
MIRT542436	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT542435	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT696542	hsa-miR-7703	HITS-CLIP	23313552
MIRT461945	hsa-miR-550b-2-5p	HITS-CLIP	23313552
MIRT696541	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT696540	hsa-miR-216b-5p	HITS-CLIP	23313552
MIRT696539	hsa-miR-302f	HITS-CLIP	23313552
MIRT696538	hsa-miR-890	HITS-CLIP	23313552
MIRT696537	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696536	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696535	hsa-miR-940	HITS-CLIP	23313552
MIRT696534	hsa-miR-3929	HITS-CLIP	23313552
MIRT696533	hsa-miR-4419b	HITS-CLIP	23313552
MIRT696532	hsa-miR-4478	HITS-CLIP	23313552
MIRT696531	hsa-miR-5690	HITS-CLIP	23313552
MIRT696529	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT696530	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT696528	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT696527	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT696526	hsa-miR-1827	HITS-CLIP	23313552
MIRT696525	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT696524	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT696523	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT696522	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT696521	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696520	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696519	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696518	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696517	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT461950	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696516	hsa-miR-1273e	HITS-CLIP	23313552
MIRT696515	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696514	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696513	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696512	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696511	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696510	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696509	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696508	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696507	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696506	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696505	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696504	hsa-miR-665	HITS-CLIP	23313552
MIRT665050	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT680473	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT461960	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT680472	hsa-miR-4532	HITS-CLIP	23824327
MIRT665049	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT680471	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT665048	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT665047	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT680470	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT680469	hsa-miR-3135b	HITS-CLIP	23824327
MIRT680468	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT680467	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT665046	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT680466	hsa-miR-4284	HITS-CLIP	23824327
MIRT665045	hsa-miR-5698	HITS-CLIP	23824327
MIRT665050	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT665049	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT665048	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT665047	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT665046	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT665045	hsa-miR-5698	HITS-CLIP	23824327
MIRT542446	hsa-miR-4432	PAR-CLIP	21572407
MIRT542447	hsa-miR-589-3p	PAR-CLIP	21572407
MIRT542444	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542445	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT542443	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT542441	hsa-miR-4486	PAR-CLIP	21572407
MIRT542442	hsa-miR-4522	PAR-CLIP	21572407
MIRT542440	hsa-miR-661	PAR-CLIP	21572407
MIRT542439	hsa-miR-1273a	PAR-CLIP	21572407
MIRT542438	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT542437	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT542436	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT542435	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT542434	hsa-miR-5001-3p	PAR-CLIP	21572407
MIRT519243	hsa-miR-4438	PAR-CLIP	23446348
MIRT519242	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519241	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT461952	hsa-miR-4252	PAR-CLIP	23446348
MIRT519240	hsa-miR-5095	PAR-CLIP	23446348
MIRT519239	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT461960	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT461959	hsa-miR-5186	PAR-CLIP	23592263
MIRT461958	hsa-miR-4537	PAR-CLIP	23592263
MIRT461957	hsa-miR-6134	PAR-CLIP	23592263
MIRT461956	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461955	hsa-miR-6086	PAR-CLIP	23592263
MIRT461954	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT461952	hsa-miR-4252	PAR-CLIP	23592263
MIRT461953	hsa-miR-3689d	PAR-CLIP	23592263
MIRT461951	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT461950	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT461949	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT461948	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT461947	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT461946	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT461945	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT461944	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT542439	hsa-miR-1273a	PAR-CLIP	27292025
MIRT696512	hsa-miR-1273h-5p	PAR-CLIP	27292025
MIRT030181	hsa-miR-26b-5p	PAR-CLIP	27292025
MIRT696511	hsa-miR-30b-3p	PAR-CLIP	27292025
MIRT696510	hsa-miR-3689a-3p	PAR-CLIP	27292025
MIRT696509	hsa-miR-3689b-3p	PAR-CLIP	27292025
MIRT696508	hsa-miR-3689c	PAR-CLIP	27292025
MIRT542446	hsa-miR-4432	PAR-CLIP	27292025
MIRT542441	hsa-miR-4486	PAR-CLIP	27292025
MIRT542442	hsa-miR-4522	PAR-CLIP	27292025
MIRT542438	hsa-miR-4649-5p	PAR-CLIP	27292025
MIRT542434	hsa-miR-5001-3p	PAR-CLIP	27292025
MIRT542447	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT542436	hsa-miR-6512-3p	PAR-CLIP	27292025
MIRT542435	hsa-miR-6720-5p	PAR-CLIP	27292025
MIRT542437	hsa-miR-6729-5p	PAR-CLIP	27292025
MIRT696507	hsa-miR-6779-5p	PAR-CLIP	27292025
MIRT696506	hsa-miR-6780a-5p	PAR-CLIP	27292025
MIRT542444	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT542445	hsa-miR-939-3p	PAR-CLIP	27292025
MIRT696544	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT542444	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT542445	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT542443	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT696543	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT542441	hsa-miR-4486	HITS-CLIP	23313552
MIRT461959	hsa-miR-5186	HITS-CLIP	23313552
MIRT461958	hsa-miR-4537	HITS-CLIP	23313552
MIRT461952	hsa-miR-4252	HITS-CLIP	23313552
MIRT542439	hsa-miR-1273a	HITS-CLIP	23313552
MIRT542438	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT542437	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT461948	hsa-miR-1227-3p	HITS-CLIP	23313552
MIRT542436	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT542435	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT696542	hsa-miR-7703	HITS-CLIP	23313552
MIRT461945	hsa-miR-550b-2-5p	HITS-CLIP	23313552
MIRT696541	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT696540	hsa-miR-216b-5p	HITS-CLIP	23313552
MIRT696539	hsa-miR-302f	HITS-CLIP	23313552
MIRT696538	hsa-miR-890	HITS-CLIP	23313552
MIRT696537	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696536	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696535	hsa-miR-940	HITS-CLIP	23313552
MIRT696534	hsa-miR-3929	HITS-CLIP	23313552
MIRT696533	hsa-miR-4419b	HITS-CLIP	23313552
MIRT696532	hsa-miR-4478	HITS-CLIP	23313552
MIRT696531	hsa-miR-5690	HITS-CLIP	23313552
MIRT696529	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT696530	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT696528	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT696527	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT696526	hsa-miR-1827	HITS-CLIP	23313552
MIRT696525	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT696524	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT696523	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT696522	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT696521	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696520	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696519	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696518	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696517	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT461950	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696516	hsa-miR-1273e	HITS-CLIP	23313552
MIRT696515	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696514	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696513	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696512	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696511	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696510	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696509	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696508	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696507	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696506	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696505	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696504	hsa-miR-665	HITS-CLIP	23313552
MIRT665050	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT680473	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT461960	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT680472	hsa-miR-4532	HITS-CLIP	23824327
MIRT665049	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT680471	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT665048	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT665047	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT680470	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT680469	hsa-miR-3135b	HITS-CLIP	23824327
MIRT680468	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT680467	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT665046	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT680466	hsa-miR-4284	HITS-CLIP	23824327
MIRT665045	hsa-miR-5698	HITS-CLIP	23824327
MIRT665050	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT665049	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT665048	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT665047	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT665046	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT665045	hsa-miR-5698	HITS-CLIP	23824327
MIRT542446	hsa-miR-4432	PAR-CLIP	21572407
MIRT542447	hsa-miR-589-3p	PAR-CLIP	21572407
MIRT542444	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542445	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT542443	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT542441	hsa-miR-4486	PAR-CLIP	21572407
MIRT542442	hsa-miR-4522	PAR-CLIP	21572407
MIRT542440	hsa-miR-661	PAR-CLIP	21572407
MIRT542439	hsa-miR-1273a	PAR-CLIP	21572407
MIRT542438	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT542437	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT542436	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT542435	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT542434	hsa-miR-5001-3p	PAR-CLIP	21572407
MIRT519243	hsa-miR-4438	PAR-CLIP	23446348
MIRT519242	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519241	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT461952	hsa-miR-4252	PAR-CLIP	23446348
MIRT519240	hsa-miR-5095	PAR-CLIP	23446348
MIRT519239	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT461960	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT461959	hsa-miR-5186	PAR-CLIP	23592263
MIRT461958	hsa-miR-4537	PAR-CLIP	23592263
MIRT461957	hsa-miR-6134	PAR-CLIP	23592263
MIRT461956	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461955	hsa-miR-6086	PAR-CLIP	23592263
MIRT461954	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT461952	hsa-miR-4252	PAR-CLIP	23592263
MIRT461953	hsa-miR-3689d	PAR-CLIP	23592263
MIRT461951	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT461950	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT461949	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT461948	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT461947	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT461946	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT461945	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT461944	hsa-miR-6516-5p	PAR-CLIP	23592263

Transcription factors

Transcription factor	Regulation	Reference
CEBPD	Unknown	8385337

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001798	Process	Positive regulation of type IIa hypersensitivity	IEA
GO:0001867	Process	Complement activation, lectin pathway	IDA	22691502
GO:0001867	Process	Complement activation, lectin pathway	IDA	18204047
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047, 30643019
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	15833747
GO:0001970	Process	Positive regulation of activation of membrane attack complex	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002430	Process	Complement receptor mediated signaling pathway	IEA
GO:0003823	Function	Antigen binding	IDA	3653927, 3897448, 6903192, 8349625
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0005102	Function	Signaling receptor binding	TAS	9164946
GO:0005515	Function	Protein binding	IPI	7483825, 11387479, 11705926, 12438350, 12540846, 16530040, 16612335, 17051150, 18796626, 19255449, 20042240, 21317894, 21527715, 21979047, 22518841, 23086448, 24260121, 26627825, 27814381, 28671664, 32034129, 32296183, 33961781, 37207277
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005601	Component	Classical-complement-pathway C3/C5 convertase complex	IDA	3874204, 6611150, 6906228, 12878586, 18204047
GO:0005615	Component	Extracellular space	HDA	16502470, 23580065
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	37852260
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	TAS	4097977
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0006956	Process	Complement activation	IDA	37852260
GO:0006956	Process	Complement activation	IEA
GO:0006956	Process	Complement activation	IEA
GO:0006956	Process	Complement activation	IMP	19302245
GO:0006957	Process	Complement activation, alternative pathway	IDA	30643019
GO:0006957	Process	Complement activation, alternative pathway	IDA	624565, 3638964, 6554279, 6903192, 6919543, 8349625
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	IDA	833545, 3653927, 3874204, 3897448, 6611150, 12878586, 18204047
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10085065
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	9164946
GO:0008009	Function	Chemokine activity	IDA	342601, 5778786, 37169960, 37852260
GO:0008228	Process	Opsonization	IDA	833545, 3653927, 3897448, 6903192, 8349625
GO:0009617	Process	Response to bacterium	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IDA	16452172
GO:0010828	Process	Positive regulation of D-glucose transmembrane transport	IDA	9059512, 15833747
GO:0010866	Process	Regulation of triglyceride biosynthetic process	IDA	10432298
GO:0010884	Process	Positive regulation of lipid storage	IDA	9555951
GO:0016322	Process	Neuron remodeling	IEA
GO:0016322	Process	Neuron remodeling	ISS
GO:0030595	Process	Leukocyte chemotaxis	IDA	342601
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0031715	Function	C5L2 anaphylatoxin chemotactic receptor binding	IDA	15833747
GO:0032991	Component	Protein-containing complex	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0035846	Process	Oviduct epithelium development	IEA
GO:0042113	Process	B cell activation	IDA	30107486
GO:0042113	Process	B cell activation	IDA	30107486
GO:0042113	Process	B cell activation	TAS	19290921
GO:0045087	Process	Innate immune response	IEA
GO:0045745	Process	Positive regulation of G protein-coupled receptor signaling pathway	IDA	15833747
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0048018	Function	Receptor ligand activity	IDA	21527715, 37852260
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IEA
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	ISS
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0051604	Process	Protein maturation	IDA	3638964, 18204047, 30643019
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IEA
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	ISS
GO:0070062	Component	Extracellular exosome	HDA	21362503, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0097242	Process	Amyloid-beta clearance	IEA
GO:0097242	Process	Amyloid-beta clearance	ISS
GO:0097278	Process	Complement-dependent cytotoxicity	IEA
GO:0106139	Component	Symbiont cell surface	IDA	833545, 3653927, 3897448, 6903192, 8349625
GO:0150062	Process	Complement-mediated synapse pruning	IEA
GO:0150062	Process	Complement-mediated synapse pruning	ISS
GO:0150064	Process	Vertebrate eye-specific patterning	IEA
GO:0150064	Process	Vertebrate eye-specific patterning	ISS
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:2000427	Process	Positive regulation of apoptotic cell clearance	IEA
GO:2000427	Process	Positive regulation of apoptotic cell clearance	IMP	19302245

Other IDs

• MIM: 120700
• HGNC: 1318
• e!Ensembl: ENSG00000125730

Protein

• UniProt ID: P01024
• Protein name: Complement C3 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1) [Cleaved into: Complement C3 beta chain; C3-beta-c (C3bc); Complement C3 alpha chain; C3a anaphylatoxin; Acylation stimulating protein (ASP) (C3adesArg); Complement C3b (Com
• Protein function: Precursor of non-enzymatic components of the classical, alternative, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive im
• PDB: 1C3D, 1GHQ, 1W2S, 2A73, 2A74, 2GOX, 2I07, 2ICE, 2ICF, 2NOJ, 2QKI, 2WII, 2WIN, 2WY7, 2WY8, 2XQW, 2XWB, 2XWJ, 3D5R, 3D5S, 3G6J, 3L3O, 3L5N, 3NMS, 3OED, 3OHX, 3OXU, 3RJ3, 3T4A, 4HW5, 4HWJ, 4I6O, 4M76, 4ONT, 4ZH1, 5FO7, 5FO8, 5FO9, 5FOA, 5FOB, 5NBQ, 5O32, 5O35, 6EHG, 6RMT, 6RMU, 6RUR, 6RUV, 6S0B, 6YO6, 7AKK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17790	MG1	23 → 124	Macroglobulin domain MG1	Domain
  PF01835	MG2	129 → 224	MG2 domain	Domain
  PF17791	MG3	226 → 308	Macroglobulin domain MG3	Domain
  PF17789	MG4	355 → 446	Macroglobulin domain MG4	Domain
  PF07703	A2M_BRD	456 → 605	Alpha-2-macroglobulin bait region domain	Domain
  PF01821	ANATO	693 → 728	Anaphylotoxin-like domain	Domain
  PF00207	A2M	770 → 866	Alpha-2-macroglobulin family	Family
  PF07678	TED_complement	983 → 1282	A-macroglobulin TED domain	Domain
  PF07677	A2M_recep	1398 → 1493	A-macroglobulin receptor binding domain	Domain
  PF01759	NTR	1534 → 1644	UNC-6/NTR/C345C module	Domain

• Tissue specificity: TISSUE SPECIFICITY: Plasma. {ECO:0000269|PubMed:9555951}.; TISSUE SPECIFICITY: [Acylation stimulating protein]: Produced in adipocytes and released into the plasma during both the fasting and postprandial periods. {ECO:0000269|PubMed:15833747}.
• Sequence:

  MGPTSGPSLLLLLLTHLPLALGSPMYSIITPNILRLESEETMVLEAHDAQGDVPVTVTVH
  DFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNKFVTVQATFGTQVVEKV
  VLVSLQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVGRTVMVNIENPEGIPVKQDSL
  SSQNQLGVLPLSWDIPELVNMGQWKIRAYYENSPQQVFSTEFEVKEYVLPSFEVIVEPTE
  KFYYIYNEKGLEVTITARFLYGKKVEGTAFVIFGIQDGEQRISLPESLKRIPIEDGSGEV
  VLSRKVLLDGVQNPRAEDLVGKSLYVSATVILHSGSDMVQAERSGIPIVTSPYQIHFTKT
  PKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHPSQKPL
  SITVRTKKQELSEAEQATRTMQALPYSTVGNSNNYLHLSVLRTELRPGETLNVNFLLRMD
  RAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGA
  SGQREVVADSVWVDVKDSCVGSLVVKSGQSEDRQPVPGQQMTLKIEGDHGARVVLVAVDK
  GVFVLNKKNKLTQSKIWDVVEKADIGCTPGSGKDYAGVFSDAGLTFTSSSGQQTAQRAEL
  QCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCCEDGMRENPMRFSCQRRTRFISLGEAC
  KKVFLDCCNYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKE
  PPKNGISTKLMNIFLKDSITTWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVV
  RNEQVEIRAVLYNYRQNQELKVRVELLHNPAFCSLATTKRRHQQTVTIPPKSSLSVPYVI
  VPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKE
  DIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTP
  TVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTA
  YVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKD
  MALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMG
  RLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQR
  YYGGGYGSTQATFMVFQALAQYQKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLR
  SEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDA
  KNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSD
  RNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFYHPEKEDG
  KLNKLCRDELCRCAEENCFIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDE
  YIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPNLSY
  IIGKDTWVEHWPEEDECQDEENQKQCQDLGAFTESMVVFGCPN

• Sequence length: 1663

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
Age related macular degeneration 9	Likely pathogenic; Pathogenic	rs1337559480, rs551385421, rs121909583	RCV002479579 RCV005015009 RCV002496404	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical hemolytic-uremic syndrome	Likely pathogenic; Pathogenic	rs776423109, rs121909583, rs121909584, rs771353792, rs1918142335	RCV005863447 RCV005862725 RCV005862726 RCV005863897 RCV001328273	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical hemolytic-uremic syndrome with C3 anomaly	Likely pathogenic; Pathogenic	rs776423109, rs1337559480, rs112780195, rs551385421, rs121909583, rs121909584, rs1568212112	RCV002466678 RCV002479579 RCV003320432 RCV005015009 RCV000018589 RCV000018590 RCV001280826	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
C3 DEFICIENCY	Pathogenic; Likely pathogenic	rs112996548, rs111595742	RCV000018587 RCV000018593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C3 glomerulonephritis	Likely pathogenic; Pathogenic	rs776423109, rs121909583, rs771353792	RCV005863447 RCV005862725 RCV005863897	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C3-related disorder	Likely pathogenic; Pathogenic	rs121909583	RCV004751217	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement component 3 deficiency	Likely pathogenic; Pathogenic	rs1337559480, rs113782618, rs2512233517, rs551385421, rs112996548, rs121909583, rs111595742, rs1568229677, rs1599518940, rs1568212112	RCV002479579 RCV006269824 RCV003486307 RCV005015009 RCV005862724 RCV002496404 RCV005862729 RCV000735715 RCV001030001 RCV005863399	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Atypical Hemolytic-Uremic Syndrome	Likely pathogenic; Pathogenic	rs121909583, rs771353792	RCV001844014 RCV003988253	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH COMPLEMENT GENE ABNORMALITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3S/C3F POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLD PAROXYSMAL HEMOGLOBINURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE AGE-RELATED MACULAR DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hemolytic anemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBINURIA, PAROXYSMAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENOCH-SCHOENLEIN PURPURA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DEGENERATION, AGE-RELATED, 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 9	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesangiocapillary glomerulonephritis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEMPHIGUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT ISCHEMIC ATTACK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	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	CTD_human_DG	28885000		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12518376, 26457809, 28060110, 28440015, 29165013, 29217160		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	16320248		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	9528886		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12518376, 28060110, 28440015, 29165013		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	25603857		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	17420372, 17634448, 18596911, 19168221, 19202148, 19850835, 20157618, 20238042, 21197116, 21576320, 22300950, 23335958, 24519512, 24736606, 25388911, 25688879, 26505407, 27029644, 27918759, 28095095, 29801032, 30352574, 31474439		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	17634448, 17767156, 18325906, 19168221		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	CTD_human_DG	17767156, 24036949, 24036950, 24036952		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	20385819, 20385826, 20861866, 21665990, 23455636, 26691988, 29346644		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	20385819, 20385826, 20861866, 21665990, 22705344, 23455636		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	20852386, 21555552, 33519811	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21403675, 32831200, 35387811	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31433986		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12684256, 15033338, 15885796, 20132478		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	30630982	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	17295030		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	28134964		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29735171		★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	1350678		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	23702661		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17457002, 8536954		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	2111124, 21732014		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32884942, 3486637	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29735171		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10984054, 11067890, 15278436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	16355111, 18566738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	32817007	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	10349852	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	8283050		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17457002, 8536954		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	22194611, 31829184	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36042613	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	18796626, 19590060, 25608561, 25858888, 25879158, 26572892, 26840081, 29555686, 29888403, 30714990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	18796626, 19590060, 22246034, 22669319, 25608561, 25879158, 31522186, 35069568	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	GENOMICS_ENGLAND_DG	26471127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic uremic syndrome with complement gene abnormality	Hemolytic Uremic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	2974768		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	31579073		★☆☆☆☆ Found in Text Mining only
Barber Say syndrome	Barber Say Syndrome	BEFREE	30604443		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	26269006	Associate	★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	30604443		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	37816044	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly Type D	Brachydactyly	Pubtator	28504607	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23028511	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	24475278	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	LHGDN	16823297		★☆☆☆☆ Found in Text Mining only
Brain Stem Ischemia, Transient	Cerebral Ischemia	CTD_human_DG	23199288		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20237941, 30336339		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20237941, 21871081, 33658651, 35403306	Associate	★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	30604443		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	28406394, 30394605		★☆☆☆☆ Found in Text Mining only
C3 Glomerulonephritis	C3 Glomerulonephritis	BEFREE	24067434		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	24067434, 29888403, 31214159		★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	GENOMICS_ENGLAND_DG	26471127		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30689427, 9528886		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10931136, 23935864, 26540347, 31136099, 33176600, 33633112	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34688260	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28683725		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12974797		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	31243064	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29407595, 29895294		★☆☆☆☆ Found in Text Mining only
Carotid Circulation Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	23199288		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	30786942		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16809564, 27956400, 31138990		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	16823297		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10910927, 12518376, 19741605, 28060110, 28440015, 29165013		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	25603857		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	19590060		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19590060, 28166191, 30791918		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	29907871		★☆☆☆☆ Found in Text Mining only
Colitis Microscopic	Microscopic colitis	Pubtator	35301900	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	8504966	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23948443, 24331409		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11862418	Associate	★☆☆☆☆ Found in Text Mining only
Complement component 3 deficiency	C3 Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complement component 3 deficiency	C3 Deficiency	GENOMICS_ENGLAND_DG	4117597		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complement component 3 deficiency	C3 Deficiency	BEFREE	7369233, 8031472, 9510185		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complement component 3 deficiency	C3 Deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE	Complement Component Deficiency	ORPHANET_DG	15781264		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE	Complement Component Deficiency	GENOMICS_ENGLAND_DG	15781264, 18796626, 26471127, 4117597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE	Complement Component Deficiency	UNIPROT_DG	7961791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE	Complement Component Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE	Complement Component Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	4117597		★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	29592796, 33519811	Associate	★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	29874282, 30975435	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29731897		★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	BEFREE	8740138		★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Conjunctival disease	Pubtator	28918083	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31829184, 9211063		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30611277, 31829184, 9211063		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30611277, 31829184	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24782052, 31829184, 9211063		★☆☆☆☆ Found in Text Mining only
Crescendo Transient Ischemic Attacks	Transient Ischemic Attack	CTD_human_DG	23199288		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10759760		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10759760	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	1008062		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	1008062	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25202993		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	28843904		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	18631248		★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	8740138		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29029276		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36080270	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29029276, 29895294		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	27306948	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20019678, 32235466	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32819140	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	1352745		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20019678, 30327358, 31786774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	20504758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34424825	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29523638, 31798904		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	29523638		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29523638		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	28918083	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	LHGDN	18253759		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	9314915	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17482181		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	21733505		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	21733505	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	20862287	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	20862287	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	20862287		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33650665	Associate	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	19850835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	22705344, 26691988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	22705344, 26691988		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	38304433	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28796299		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	20862287		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	22011642, 22130450		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	36064709	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	31522186	Associate	★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	22705344, 26691988		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	31474439		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30217731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30036292		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29151252, 29321778, 9259352		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	36227893	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	37713183	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33389462, 37651123	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	19640589, 9510185		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	27345360		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	19117936, 25214719, 32407518	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	19850835, 20157618, 25388911		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28352659		★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	28707765	Stimulate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	31579073		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22246034	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31844116	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	19590060	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	23963626	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	33519811, 33879077	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	LHGDN	18796626		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	GENOMICS_ENGLAND_DG	26471127		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	31522186	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	CTD_human_DG	1353212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	35490715	Associate	★☆☆☆☆ Found in Text Mining only
Heymann Nephritis	Heymann Nephritis	CTD_human_DG	25954969		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10506508		★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	30003878		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	11478940, 15304365		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	14564690		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	11031215, 11979403, 8820109, 9812922		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	LHGDN	11979403, 12006395		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	BEFREE	9026529		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19590060, 22471352	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22194859, 27059747, 30880965, 31252098		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	BEFREE	28793954		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	19828715	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	31243064	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	30327358		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	29301248	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	CTD_human_DG	25954969		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24958208	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29565179		★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	22996269	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	23593433, 28166191, 30785896, 8154490, 9071710		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	1350678		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20841369, 30415998		★☆☆☆☆ Found in Text Mining only
Infarction, Middle Cerebral Artery	Cerebral Infraction	CTD_human_DG	23199288		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	21733505	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20089077		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	20089077	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34836106	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	40312330	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29529042		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25124117, 9648070	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29523638, 31752725		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	29555686	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	27059747, 28176473		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	19590060, 22246034	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	17295030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	28885000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	19590060		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	29565968	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27885727, 9490695		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	31231394	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	30273264		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	1971421, 29731897, 31453685		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	38287828	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	23935864	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1971421		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31854219	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	10735963, 28281463, 31752725, 7110302		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18383369, 22949303, 26076826, 28063160, 29884225, 35172900, 35418986, 35543435	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	10735963, 28281463, 31752725, 7110302		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10735963, 1455049, 19387462, 24659142, 26076826, 28281463, 28373995, 28859328, 29087263, 29306594, 2937582, 29387192, 2974768, 29884225, 30053827, 30185417, 30680018, 30712491, 30968568, 31594956, 31752725, 31773496, 31842967, 6115248, 6239627, 7110302, 8595925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	16893076, 18174230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	BEFREE	28373995, 28385126, 28778196, 29451067, 30594048, 31685314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	30594048, 30975435, 36104119	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	10735963, 28281463, 31752725, 7110302		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33658651	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	29217160		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	646924	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	30968568		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	17634448, 18325906, 19169411, 19202148, 19823576, 20157618, 20664795, 21139680, 21169531, 21197116, 21402993, 21555552, 21906714, 22174912, 22694956, 22933840, 23112567, 23337555, 24453474, 24675670, 24736606, 25124117, 26154559, 26961928, 27099955, 29410599, 29592796, 29801032, 32762675, 33519811, 33618707, 34233521, 35069568, 36036675, 38067097	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular Degeneration	Macular degeneration	Pubtator	30820144, 31267090	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular Degeneration, Age-Related, 9	Age-related macular degeneration	UNIPROT_DG	17634448, 24036952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 9	Age-related macular degeneration	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, EARLY-ONSET	Macular Degeneration	BEFREE	20711711		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	31570005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20237941, 30336339		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28683725		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10707928		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29062836		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29113054		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	25603857		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35669782	Associate	★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type II	Nephrotic syndrome	BEFREE	24067434		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	CTD_human_DG	25954969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30104553		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19828715	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18805911, 19828715, 29596043, 30454064		★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Middle Cerebral Artery Thrombosis	Cerebral Thrombosis	CTD_human_DG	23199288		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	9051331		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29578484, 30618716		★☆☆☆☆ Found in Text Mining only
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	BEFREE	8687011		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	25447692		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	1880521		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28707765	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	1880521, 27778395		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23762311	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10428310, 28962185, 31194992, 9366246		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18682851		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31194992		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	1090155		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	6620325	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23948443, 30419362, 30825266		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	31342656, 7901586		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29385997		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29523638		★☆☆☆☆ Found in Text Mining only
Neuropsychiatric Systemic Lupus Erythematosus	Neuropsychiatric Systemic Lupus Erythematosus	BEFREE	29036223		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30273264		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Age-related macular degeneration	Age-related macular degeneration	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28796299		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24331409, 25173530, 26860843, 27127129		★☆☆☆☆ Found in Text Mining only
Nuchal bleb, familial	Nuchal Bleb	BEFREE	8820109		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12438443, 14564690, 15853826, 30454064, 8772727		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21203453, 24287500, 24743347, 25415563	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30536591	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29518962	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	28667799		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28683725		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12402151, 28683725	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10707928		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	31515171		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30058426, 31579073		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	CTD_human_DG	22633222		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	15920296	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	1107355, 29296844, 6225118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus	Pemphigus	BEFREE	31498102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus	Pemphigus	CTD_human_DG	74171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus Foliaceus	Pemphigus Foliaceus	CTD_human_DG	74171		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	10082594, 31819769		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	CTD_human_DG	74171		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	24808362		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	18206145		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31173497, 32323743, 36980195, 37181037, 40243681	Associate	★☆☆☆☆ Found in Text Mining only
Posterior Circulation Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	23199288		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29217160		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	8687011		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	28134964		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	30345709		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	23963626, 37108355	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	11803045		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	25465103		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29565179		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	19640589		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	28796299		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30405606		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	8080606		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	27059747		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	30244532		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	30244532	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	30142373, 37761846	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29523638		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28569420		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	30398622		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14872483, 2111124, 27908300, 28796299, 2937582, 29735171, 3495479, 7897264		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10924404, 25720829		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	33809015, 39273179	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	30885245	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	20862287	Associate	★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	22996269		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	36113315	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28884388		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30825266		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31076642		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29062836		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31928530	Stimulate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31433986		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	15986360, 28057640, 30398622		★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	28057640		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30058426	Associate	★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	CTD_human_DG	23199288		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	23199288		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Ischemic Attack, Anterior Circulation	Transient Ischemic Attack	CTD_human_DG	23199288		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack, Vertebrobasilar Circulation	Transient Ischemic Attack	CTD_human_DG	23199288		★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	38187376	Stimulate	★☆☆☆☆ Found in Text Mining only
Uveitis Intermediate	Uveitis	Pubtator	28408754	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Posterior	Uveitis	Pubtator	38187376	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	2141558, 35747245	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	35747245	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis of the skin	Vasculitis	BEFREE	29087263, 7369233		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	22699975	Associate	★☆☆☆☆ Found in Text Mining only