CD46 (CD46 molecule)

Gene

• Entrez ID: 4179
• Gene name: CD46 molecule
• Gene symbol: CD46
• Synonyms (NCBI Gene): AHUS2, MCP, MIC10, TLX, TRA2.10
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cel

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909589	T>C,G	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs121909590	C>T	Risk-factor	Stop gained, non coding transcript variant, coding sequence variant
rs121909591	G>A	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs146803767	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs750324925	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs769742294	T>G	Likely-pathogenic	Splice donor variant
rs886039868	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516191	TT>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1441937053	G>C	Risk-factor	Splice acceptor variant
rs1553251787	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1571588257	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571616755	GA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571617647	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006512	hsa-miR-520b	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20574151
MIRT006512	hsa-miR-520b	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20574151
MIRT006513	hsa-miR-520e	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20574151
MIRT006513	hsa-miR-520e	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20574151
MIRT006512	hsa-miR-520b	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20574151
MIRT006512	hsa-miR-520b	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20574151
MIRT006513	hsa-miR-520e	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20574151
MIRT006513	hsa-miR-520e	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20574151
MIRT016118	hsa-miR-421	Sequencing	20371350
MIRT016245	hsa-miR-548b-3p	Sequencing	20371350
MIRT006512	hsa-miR-520b	Reporter assay;Western blot;qRT-PCR;Other	20574151
MIRT006513	hsa-miR-520e	Reporter assay;Western blot;qRT-PCR;Other	20574151
MIRT017770	hsa-miR-335-5p	Microarray	18185580
MIRT019616	hsa-miR-340-5p	Sequencing	20371350
MIRT020079	hsa-miR-361-5p	Sequencing	20371350
MIRT021197	hsa-miR-186-5p	Sequencing	20371350
MIRT025041	hsa-miR-181a-5p	Microarray	17612493
MIRT027321	hsa-miR-101-3p	Sequencing	20371350
MIRT027651	hsa-miR-98-5p	Microarray	19088304
MIRT028018	hsa-miR-93-5p	Sequencing	20371350
MIRT031160	hsa-miR-19b-3p	Sequencing	20371350
MIRT039524	hsa-miR-652-3p	CLASH	23622248
MIRT704860	hsa-miR-888-5p	HITS-CLIP	23313552
MIRT704859	hsa-miR-3925-5p	HITS-CLIP	23313552
MIRT704858	hsa-miR-4714-3p	HITS-CLIP	23313552
MIRT704857	hsa-miR-570-3p	HITS-CLIP	23313552
MIRT704856	hsa-miR-4668-5p	HITS-CLIP	23313552
MIRT704855	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT704854	hsa-miR-3122	HITS-CLIP	23313552
MIRT704853	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT704852	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT704851	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT184131	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT550957	hsa-miR-3646	PAR-CLIP	21572407
MIRT184130	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT550956	hsa-miR-188-5p	PAR-CLIP	21572407
MIRT550955	hsa-miR-6866-3p	PAR-CLIP	21572407
MIRT550954	hsa-miR-4698	PAR-CLIP	21572407
MIRT550953	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT184128	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT550951	hsa-miR-4780	PAR-CLIP	21572407
MIRT550952	hsa-miR-6780b-3p	PAR-CLIP	21572407
MIRT550950	hsa-miR-4670-3p	PAR-CLIP	21572407
MIRT550949	hsa-miR-4724-3p	PAR-CLIP	21572407
MIRT016118	hsa-miR-421	PAR-CLIP	21572407
MIRT550948	hsa-miR-623	PAR-CLIP	21572407
MIRT184127	hsa-miR-150-3p	PAR-CLIP	21572407
MIRT550947	hsa-miR-1263	PAR-CLIP	21572407
MIRT704860	hsa-miR-888-5p	HITS-CLIP	23313552
MIRT704859	hsa-miR-3925-5p	HITS-CLIP	23313552
MIRT704858	hsa-miR-4714-3p	HITS-CLIP	23313552
MIRT704857	hsa-miR-570-3p	HITS-CLIP	23313552
MIRT704856	hsa-miR-4668-5p	HITS-CLIP	23313552
MIRT704855	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT704854	hsa-miR-3122	HITS-CLIP	23313552
MIRT704853	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT704852	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT704851	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT184131	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT550957	hsa-miR-3646	PAR-CLIP	21572407
MIRT184130	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT550956	hsa-miR-188-5p	PAR-CLIP	21572407
MIRT550955	hsa-miR-6866-3p	PAR-CLIP	21572407
MIRT550954	hsa-miR-4698	PAR-CLIP	21572407
MIRT550953	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT184128	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT550951	hsa-miR-4780	PAR-CLIP	21572407
MIRT550952	hsa-miR-6780b-3p	PAR-CLIP	21572407
MIRT550950	hsa-miR-4670-3p	PAR-CLIP	21572407
MIRT550949	hsa-miR-4724-3p	PAR-CLIP	21572407
MIRT016118	hsa-miR-421	PAR-CLIP	21572407
MIRT550948	hsa-miR-623	PAR-CLIP	21572407
MIRT184127	hsa-miR-150-3p	PAR-CLIP	21572407
MIRT550947	hsa-miR-1263	PAR-CLIP	21572407
MIRT031160	hsa-miR-19b-3p	Luciferase reporter assay, Western blotting, qRT-PCR	37093132
MIRT875545	hsa-let-7a	CLIP-seq
MIRT875546	hsa-let-7b	CLIP-seq
MIRT875547	hsa-let-7c	CLIP-seq
MIRT875548	hsa-let-7d	CLIP-seq
MIRT875549	hsa-let-7e	CLIP-seq
MIRT875550	hsa-let-7f	CLIP-seq
MIRT875551	hsa-let-7g	CLIP-seq
MIRT875552	hsa-let-7i	CLIP-seq
MIRT875553	hsa-miR-105	CLIP-seq
MIRT875554	hsa-miR-1200	CLIP-seq
MIRT875555	hsa-miR-129-5p	CLIP-seq
MIRT875556	hsa-miR-1301	CLIP-seq
MIRT875557	hsa-miR-1303	CLIP-seq
MIRT875558	hsa-miR-134	CLIP-seq
MIRT875559	hsa-miR-135a	CLIP-seq
MIRT875560	hsa-miR-135b	CLIP-seq
MIRT875561	hsa-miR-143	CLIP-seq
MIRT875562	hsa-miR-154	CLIP-seq
MIRT875563	hsa-miR-186	CLIP-seq
MIRT875564	hsa-miR-202	CLIP-seq
MIRT875565	hsa-miR-2113	CLIP-seq
MIRT875566	hsa-miR-2116	CLIP-seq
MIRT875567	hsa-miR-218	CLIP-seq
MIRT875568	hsa-miR-3118	CLIP-seq
MIRT875569	hsa-miR-3119	CLIP-seq
MIRT875570	hsa-miR-3123	CLIP-seq
MIRT875571	hsa-miR-3128	CLIP-seq
MIRT875572	hsa-miR-3133	CLIP-seq
MIRT875573	hsa-miR-3158-3p	CLIP-seq
MIRT875574	hsa-miR-3162-5p	CLIP-seq
MIRT875575	hsa-miR-3164	CLIP-seq
MIRT875576	hsa-miR-3180-5p	CLIP-seq
MIRT875577	hsa-miR-3190	CLIP-seq
MIRT875578	hsa-miR-3200-5p	CLIP-seq
MIRT875579	hsa-miR-323b-3p	CLIP-seq
MIRT875580	hsa-miR-335	CLIP-seq
MIRT875581	hsa-miR-3545-3p	CLIP-seq
MIRT875582	hsa-miR-3607-5p	CLIP-seq
MIRT875583	hsa-miR-3609	CLIP-seq
MIRT875584	hsa-miR-3617	CLIP-seq
MIRT875585	hsa-miR-3662	CLIP-seq
MIRT875586	hsa-miR-3663-5p	CLIP-seq
MIRT875587	hsa-miR-3664-5p	CLIP-seq
MIRT875588	hsa-miR-3667-3p	CLIP-seq
MIRT875589	hsa-miR-3672	CLIP-seq
MIRT875590	hsa-miR-376c	CLIP-seq
MIRT875591	hsa-miR-3919	CLIP-seq
MIRT875592	hsa-miR-3938	CLIP-seq
MIRT875593	hsa-miR-3973	CLIP-seq
MIRT875594	hsa-miR-4255	CLIP-seq
MIRT875595	hsa-miR-4266	CLIP-seq
MIRT875596	hsa-miR-4276	CLIP-seq
MIRT875597	hsa-miR-4302	CLIP-seq
MIRT875598	hsa-miR-4307	CLIP-seq
MIRT875599	hsa-miR-4324	CLIP-seq
MIRT875600	hsa-miR-4458	CLIP-seq
MIRT875601	hsa-miR-4470	CLIP-seq
MIRT875602	hsa-miR-4477b	CLIP-seq
MIRT875603	hsa-miR-448	CLIP-seq
MIRT875604	hsa-miR-4480	CLIP-seq
MIRT875605	hsa-miR-4495	CLIP-seq
MIRT875606	hsa-miR-4500	CLIP-seq
MIRT875607	hsa-miR-4501	CLIP-seq
MIRT875608	hsa-miR-4502	CLIP-seq
MIRT875609	hsa-miR-450b-5p	CLIP-seq
MIRT875610	hsa-miR-4643	CLIP-seq
MIRT875611	hsa-miR-466	CLIP-seq
MIRT875612	hsa-miR-4660	CLIP-seq
MIRT875613	hsa-miR-4661-5p	CLIP-seq
MIRT875614	hsa-miR-4662a-5p	CLIP-seq
MIRT875615	hsa-miR-4677-5p	CLIP-seq
MIRT875616	hsa-miR-4694-3p	CLIP-seq
MIRT875617	hsa-miR-4720-3p	CLIP-seq
MIRT875618	hsa-miR-4729	CLIP-seq
MIRT875619	hsa-miR-4752	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875621	hsa-miR-4766-5p	CLIP-seq
MIRT875622	hsa-miR-4770	CLIP-seq
MIRT875623	hsa-miR-4786-3p	CLIP-seq
MIRT875624	hsa-miR-4789-3p	CLIP-seq
MIRT875625	hsa-miR-4789-5p	CLIP-seq
MIRT875626	hsa-miR-4802-3p	CLIP-seq
MIRT875627	hsa-miR-4804-3p	CLIP-seq
MIRT875628	hsa-miR-491-3p	CLIP-seq
MIRT875629	hsa-miR-495	CLIP-seq
MIRT875630	hsa-miR-5047	CLIP-seq
MIRT875631	hsa-miR-507	CLIP-seq
MIRT875632	hsa-miR-513a-3p	CLIP-seq
MIRT875633	hsa-miR-520a-5p	CLIP-seq
MIRT875634	hsa-miR-522	CLIP-seq
MIRT875635	hsa-miR-525-5p	CLIP-seq
MIRT875636	hsa-miR-544b	CLIP-seq
MIRT875637	hsa-miR-545	CLIP-seq
MIRT875638	hsa-miR-548a-3p	CLIP-seq
MIRT875639	hsa-miR-548ah	CLIP-seq
MIRT875640	hsa-miR-548e	CLIP-seq
MIRT875641	hsa-miR-548f	CLIP-seq
MIRT875642	hsa-miR-548p	CLIP-seq
MIRT875643	hsa-miR-548t	CLIP-seq
MIRT875644	hsa-miR-557	CLIP-seq
MIRT875645	hsa-miR-570	CLIP-seq
MIRT875646	hsa-miR-578	CLIP-seq
MIRT875647	hsa-miR-582-3p	CLIP-seq
MIRT875648	hsa-miR-636	CLIP-seq
MIRT875649	hsa-miR-641	CLIP-seq
MIRT875650	hsa-miR-651	CLIP-seq
MIRT875651	hsa-miR-935	CLIP-seq
MIRT875652	hsa-miR-98	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875553	hsa-miR-105	CLIP-seq
MIRT875554	hsa-miR-1200	CLIP-seq
MIRT875555	hsa-miR-129-5p	CLIP-seq
MIRT875556	hsa-miR-1301	CLIP-seq
MIRT875559	hsa-miR-135a	CLIP-seq
MIRT875560	hsa-miR-135b	CLIP-seq
MIRT1959581	hsa-miR-3064-3p	CLIP-seq
MIRT875569	hsa-miR-3119	CLIP-seq
MIRT875573	hsa-miR-3158-3p	CLIP-seq
MIRT875576	hsa-miR-3180-5p	CLIP-seq
MIRT1959582	hsa-miR-3182	CLIP-seq
MIRT1959583	hsa-miR-3183	CLIP-seq
MIRT875580	hsa-miR-335	CLIP-seq
MIRT875582	hsa-miR-3607-5p	CLIP-seq
MIRT875583	hsa-miR-3609	CLIP-seq
MIRT875585	hsa-miR-3662	CLIP-seq
MIRT875586	hsa-miR-3663-5p	CLIP-seq
MIRT875587	hsa-miR-3664-5p	CLIP-seq
MIRT875588	hsa-miR-3667-3p	CLIP-seq
MIRT1959584	hsa-miR-3909	CLIP-seq
MIRT875591	hsa-miR-3919	CLIP-seq
MIRT1959585	hsa-miR-3920	CLIP-seq
MIRT875593	hsa-miR-3973	CLIP-seq
MIRT875599	hsa-miR-4324	CLIP-seq
MIRT1959586	hsa-miR-4422	CLIP-seq
MIRT1959587	hsa-miR-4446-3p	CLIP-seq
MIRT1959588	hsa-miR-4452	CLIP-seq
MIRT875602	hsa-miR-4477b	CLIP-seq
MIRT875605	hsa-miR-4495	CLIP-seq
MIRT875609	hsa-miR-450b-5p	CLIP-seq
MIRT1959589	hsa-miR-4520a-3p	CLIP-seq
MIRT1959590	hsa-miR-4520b-3p	CLIP-seq
MIRT1959591	hsa-miR-4529-3p	CLIP-seq
MIRT1959592	hsa-miR-4635	CLIP-seq
MIRT875610	hsa-miR-4643	CLIP-seq
MIRT1959593	hsa-miR-4645-3p	CLIP-seq
MIRT1959594	hsa-miR-4656	CLIP-seq
MIRT875611	hsa-miR-466	CLIP-seq
MIRT875612	hsa-miR-4660	CLIP-seq
MIRT875616	hsa-miR-4694-3p	CLIP-seq
MIRT1959595	hsa-miR-4721	CLIP-seq
MIRT1959596	hsa-miR-4723-3p	CLIP-seq
MIRT875618	hsa-miR-4729	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875621	hsa-miR-4766-5p	CLIP-seq
MIRT875624	hsa-miR-4789-3p	CLIP-seq
MIRT875625	hsa-miR-4789-5p	CLIP-seq
MIRT875626	hsa-miR-4802-3p	CLIP-seq
MIRT1959597	hsa-miR-488	CLIP-seq
MIRT875629	hsa-miR-495	CLIP-seq
MIRT875630	hsa-miR-5047	CLIP-seq
MIRT875631	hsa-miR-507	CLIP-seq
MIRT1959598	hsa-miR-511	CLIP-seq
MIRT875632	hsa-miR-513a-3p	CLIP-seq
MIRT875633	hsa-miR-520a-5p	CLIP-seq
MIRT875634	hsa-miR-522	CLIP-seq
MIRT875635	hsa-miR-525-5p	CLIP-seq
MIRT1959599	hsa-miR-526b	CLIP-seq
MIRT875636	hsa-miR-544b	CLIP-seq
MIRT875638	hsa-miR-548a-3p	CLIP-seq
MIRT875639	hsa-miR-548ah	CLIP-seq
MIRT875640	hsa-miR-548e	CLIP-seq
MIRT875641	hsa-miR-548f	CLIP-seq
MIRT875642	hsa-miR-548p	CLIP-seq
MIRT875644	hsa-miR-557	CLIP-seq
MIRT875645	hsa-miR-570	CLIP-seq
MIRT875646	hsa-miR-578	CLIP-seq
MIRT875647	hsa-miR-582-3p	CLIP-seq
MIRT1959600	hsa-miR-616	CLIP-seq
MIRT1959601	hsa-miR-759	CLIP-seq
MIRT1959602	hsa-miR-9	CLIP-seq
MIRT1959603	hsa-miR-936	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875624	hsa-miR-4789-3p	CLIP-seq
MIRT1959602	hsa-miR-9	CLIP-seq
MIRT2385746	hsa-miR-3922-5p	CLIP-seq
MIRT875557	hsa-miR-1303	CLIP-seq
MIRT875570	hsa-miR-3123	CLIP-seq
MIRT875579	hsa-miR-323b-3p	CLIP-seq
MIRT875589	hsa-miR-3672	CLIP-seq
MIRT2427222	hsa-miR-3675-3p	CLIP-seq
MIRT875625	hsa-miR-4789-5p	CLIP-seq
MIRT875632	hsa-miR-513a-3p	CLIP-seq
MIRT875642	hsa-miR-548p	CLIP-seq
MIRT2436189	hsa-miR-4738-3p	CLIP-seq
MIRT1959593	hsa-miR-4645-3p	CLIP-seq
MIRT1959602	hsa-miR-9	CLIP-seq
MIRT875569	hsa-miR-3119	CLIP-seq
MIRT875554	hsa-miR-1200	CLIP-seq
MIRT2677726	hsa-miR-1202	CLIP-seq
MIRT875555	hsa-miR-129-5p	CLIP-seq
MIRT875556	hsa-miR-1301	CLIP-seq
MIRT875559	hsa-miR-135a	CLIP-seq
MIRT875560	hsa-miR-135b	CLIP-seq
MIRT2677727	hsa-miR-2117	CLIP-seq
MIRT875567	hsa-miR-218	CLIP-seq
MIRT875569	hsa-miR-3119	CLIP-seq
MIRT875571	hsa-miR-3128	CLIP-seq
MIRT875577	hsa-miR-3190	CLIP-seq
MIRT875581	hsa-miR-3545-3p	CLIP-seq
MIRT875585	hsa-miR-3662	CLIP-seq
MIRT875587	hsa-miR-3664-5p	CLIP-seq
MIRT875588	hsa-miR-3667-3p	CLIP-seq
MIRT875589	hsa-miR-3672	CLIP-seq
MIRT2677728	hsa-miR-371-5p	CLIP-seq
MIRT2677729	hsa-miR-375	CLIP-seq
MIRT875590	hsa-miR-376c	CLIP-seq
MIRT2677730	hsa-miR-3972	CLIP-seq
MIRT2677731	hsa-miR-4273	CLIP-seq
MIRT2677732	hsa-miR-4279	CLIP-seq
MIRT875599	hsa-miR-4324	CLIP-seq
MIRT1959586	hsa-miR-4422	CLIP-seq
MIRT1959588	hsa-miR-4452	CLIP-seq
MIRT875601	hsa-miR-4470	CLIP-seq
MIRT875609	hsa-miR-450b-5p	CLIP-seq
MIRT1959592	hsa-miR-4635	CLIP-seq
MIRT875612	hsa-miR-4660	CLIP-seq
MIRT875613	hsa-miR-4661-5p	CLIP-seq
MIRT875614	hsa-miR-4662a-5p	CLIP-seq
MIRT875615	hsa-miR-4677-5p	CLIP-seq
MIRT2677733	hsa-miR-4699-5p	CLIP-seq
MIRT2677734	hsa-miR-4709-3p	CLIP-seq
MIRT2677735	hsa-miR-4714-5p	CLIP-seq
MIRT875617	hsa-miR-4720-3p	CLIP-seq
MIRT2436189	hsa-miR-4738-3p	CLIP-seq
MIRT875619	hsa-miR-4752	CLIP-seq
MIRT875620	hsa-miR-4760-3p	CLIP-seq
MIRT875626	hsa-miR-4802-3p	CLIP-seq
MIRT875627	hsa-miR-4804-3p	CLIP-seq
MIRT875630	hsa-miR-5047	CLIP-seq
MIRT875631	hsa-miR-507	CLIP-seq
MIRT875632	hsa-miR-513a-3p	CLIP-seq
MIRT1959599	hsa-miR-526b	CLIP-seq
MIRT875636	hsa-miR-544b	CLIP-seq
MIRT875637	hsa-miR-545	CLIP-seq
MIRT875642	hsa-miR-548p	CLIP-seq
MIRT875644	hsa-miR-557	CLIP-seq
MIRT875646	hsa-miR-578	CLIP-seq
MIRT2677736	hsa-miR-633	CLIP-seq
MIRT875648	hsa-miR-636	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
STAT3	Activation	17699108

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0002079	Component	Inner acrosomal membrane	IEA
GO:0002250	Process	Adaptive immune response	IC	12540904
GO:0002376	Process	Immune system process	IEA
GO:0002456	Process	T cell mediated immunity	IBA
GO:0002456	Process	T cell mediated immunity	IMP	23086448
GO:0005515	Function	Protein binding	IPI	18796626, 23086448, 32296183
GO:0005615	Component	Extracellular space	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20534589
GO:0005886	Component	Plasma membrane	NAS	1711570
GO:0005886	Component	Plasma membrane	TAS	1711570
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	IDA	23086448
GO:0009986	Component	Cell surface	IDA	23086448
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	23086448
GO:0010629	Process	Negative regulation of gene expression	IDA	23086448
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032733	Process	Positive regulation of interleukin-10 production	IDA	12540904, 23086448
GO:0035581	Process	Sequestering of extracellular ligand from receptor	IDA	23086448
GO:0038023	Function	Signaling receptor activity	TAS	8402913
GO:0042102	Process	Positive regulation of T cell proliferation	IDA	12540904
GO:0043382	Process	Positive regulation of memory T cell differentiation	IDA	12540904
GO:0045087	Process	Innate immune response	IEA
GO:0045296	Function	Cadherin binding	IPI	23086448
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IDA	12540904
GO:0045959	Process	Negative regulation of complement activation, classical pathway	IBA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0050776	Process	Regulation of immune response	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071636	Process	Positive regulation of transforming growth factor beta production	IDA	12540904

Other IDs

• MIM: 120920
• HGNC: 6953
• e!Ensembl: ENSG00000117335

Protein

• UniProt ID: P15529
• Protein name: Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)
• Protein function: Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte d
• PDB: 1CKL, 2O39, 3INB, 3L89, 3O8E, 5FO8, 8QK3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	35 → 94	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	99 → 157	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	162 → 223	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	228 → 283	Sushi repeat (SCR repeat)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by all cells except erythrocytes.
• Sequence:

  MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERV
  DYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFG
  YQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEV
  FEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS
  GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHS
  VSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAV
  ICVVPYRYLQRRKKKGTYLTDETHREVKFTSL

• Sequence length: 392

Pathways

KEGG:

Virion - Ebolavirus, Lyssavirus and Morbillivirus
Virion - Adenovirus
Complement and coagulation cascades
Measles

Reactome:

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Atypical hemolytic-uremic syndrome	Pathogenic; Likely pathogenic	rs1419898630, rs759813089, rs2102541856, rs1191117776, rs1655006399, rs1558056827, rs1255421232, rs1441937053, rs121909590, rs1553251787, rs769742294, rs1571588257, rs1571617647	RCV005867075 RCV005867076 RCV005868371 RCV005868380 RCV002294714 RCV005867778 RCV005867779 RCV005867781 RCV005867782 RCV005869534 RCV000600566 RCV005870865 RCV005866744	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Pathogenic; Likely pathogenic	rs2102541856, rs1191117776, rs886039868, rs2526572615, rs373127045, rs1558056827, rs1255421232, rs1441937053, rs121909590, rs771423488, rs2526399084, rs1343140692, rs1057516191, rs1553251787, rs769742294, rs1571588257, rs1571616755, rs1571617647	RCV001808149 RCV004785335 RCV000256379 RCV003324634 RCV003335959 RCV000018572 RCV000018573 RCV000018575 RCV000018576 RCV003991952 RCV004555500 RCV004555502 RCV000408782 RCV000505668 RCV001250520 RCV000786964 RCV001029850 RCV001029803	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CD46-related disorder	Likely pathogenic	rs773618613	RCV003401905	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Atypical Hemolytic-Uremic Syndrome	Likely pathogenic; Pathogenic	rs759813089, rs769742294	RCV002298953 RCV003994042	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombotic microangiopathy	Likely pathogenic; Pathogenic	rs759813089	RCV001849191	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	★★☆☆☆ 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
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hemolytic anemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC-UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar myopathy 6	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Pathogenic, low penetrance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS, CASTRATION-RESISTANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30806759		★☆☆☆☆ Found in Text Mining only
Acute recurrent pancreatitis	Pancreatitis	BEFREE	19844201		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30185663		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20068366		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30806759		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21307887, 22024702, 26161984, 29093709		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	23086448		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	20852386, 25188723	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32755048	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	26373551, 7683316		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	22761633	Associate	★☆☆☆☆ Found in Text Mining only
Anterior synechiae	Synechiae	BEFREE	28054735		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	23391762	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31152776		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	18980958, 21852528		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21283821, 28444759	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	21283821, 30154478	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30154478		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	9839649		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31152776		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	28940198, 9616315	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	CTD_human_DG	14615110		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	15784724, 16575691, 16762990, 16882452, 17027083, 17084897, 17599974, 18514989, 19459807, 19590060, 21706448, 21906045, 22171659, 22410797, 22420623, 22622361, 23307876, 23431077, 23743117, 23780777, 24005975, 28057640, 28176476, 30676336, 30870849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	16386793, 17914026, 18424762, 19373492, 19459807, 19590060, 20016463, 20595690, 22171659, 22410797, 22420623, 22622361, 23307876, 23431077, 25608561, 27399110, 29500241, 29907460, 30377230, 32715379, 32765494, 35987516, 36755127, 37466676, 37477760	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	CLINVAR_DG	16762990, 17089378, 20513133, 23431077, 23731345, 24944786, 25525159, 25899302, 26307634, 26559391, 28056875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	GENOMICS_ENGLAND_DG	21902819		★★☆☆☆ 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	17099776, 21573156, 28273946		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	27226545, 28273946, 34831317	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	8552981		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21437625, 28789701, 30201920		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20814749, 23028043, 25557355, 26554934, 28527574, 30441799		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24936658	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20574151, 21617523, 25241923, 30441799		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	15378282, 20574151, 20691986, 26280373, 30441799	Associate	★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	28273946		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	8552981		★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	GENOMICS_ENGLAND_DG	21902819		★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	26895476		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24297460, 32721119	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10468303, 17695519, 23391762, 24297460	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21437625, 28789701, 30201920		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27229159	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16585216, 19491256, 21725665, 27229159		★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	28199366		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	37628806	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	20661655	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	19424665		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28199366		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16874361, 19878546		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	15047806, 16874361, 19878546		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27997540, 30806759		★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	11979237	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17261436, 23431077, 29907460, 30870849		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21573156		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	10648185		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	8640847	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27203670		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24978917	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	7532345, 7692919	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	16621965		★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement Component Deficiency	BEFREE	23870792		★☆☆☆☆ Found in Text Mining only
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	BEFREE	16387683		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30967790		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29609686		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29609686		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31555286	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29609686		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15389872, 16755236, 30690561		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	18356936		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	10337919, 10627548		★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	40495522	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	16585216		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	31161314		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	39772136	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	25344690		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	GWASCAT_DG	25344690		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	16387683		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	21370259		★☆☆☆☆ Found in Text Mining only
Gardner Syndrome	Gardner Syndrome	BEFREE	24574405		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	29307809		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	29093709		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28692738		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26838672, 7891669		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37243172	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26838672, 7891669		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18665158, 20814749, 27881004		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19688792, 8644856	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	17018561, 22456601		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	LHGDN	17914026		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	17914026, 22456601	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	30356754	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulopathy with fibronectin deposits	Glomerulopathy With Fibronectin Deposits	BEFREE	10964510		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	25214719	Associate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	8528226		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30967790		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	LHGDN	17914026, 18658028		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	ORPHANET_DG	17914026		★☆☆☆☆ Found in Text Mining only
HELLP syndrome	HELLP Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	22594569		★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	16867159	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	18658028	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	15784724, 16386793, 16621965, 17617869, 17914026, 19076829, 19373492, 19459807, 20059470, 23431077, 23780777, 24005975, 25188723, 30674459, 30870849, 37477760	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	14566051, 14615110, 15121049, 15784724, 16575689, 16968692, 17018561, 17261436, 17617869, 19190803, 26307634, 30870849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	LHGDN	14566051, 15121049, 16386793, 17261436, 17914026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	GENOMICS_ENGLAND_DG	21902819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Hepatoblastoma	BEFREE	23009685		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30870849	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30870849		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24958208		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24958208	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	29635535		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	15730400		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37477760	Associate	★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	25305519		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	29154737		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	31774004		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28176476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	28940198	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	26908231, 28057640		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	23431077, 29907460, 30870849	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17261436, 23431077, 29907460, 30870849		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	10744069	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22516263, 8552981		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22516263	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17133484, 21504839, 23391762, 24297460		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	10468303	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	17914026	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23391762		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	9717965	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	22065791		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22171659, 28444759, 37477760	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22761633	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	22065791		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22065791, 22171659, 22247341, 28433894, 28444759		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	22171659		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	36211394	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	22065791		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19965652, 25294155		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25294155	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22718493	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	22718493, 25294155		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23097248	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration	Macular degeneration	Pubtator	25188723, 32717343	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	16716112		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	23962292		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20574151, 21617523, 25241923, 30441799		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19491256, 21725665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19773744, 25557355, 27597974, 29555975, 30185663		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21437625, 28789701, 30201920		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16874361, 20574151, 20814749, 20879979, 23282028, 25557355, 27203670, 28789701, 29042395, 30201920, 30441799		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	25843626		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	16874361, 19878546		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14712499, 15378282		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20691986		★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type I	Nephrotic syndrome	BEFREE	22456601		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	23962292, 28968974		★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	21071334, 23508668		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	9358772	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27841764		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30530776	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	11603380, 17099776, 18403025, 19456309, 21177319, 28444759, 29066539, 29093709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	15845255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	20661655, 21283821, 23144765, 28444759, 33329593	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	18067405		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27840920		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10769630, 15256464, 16874361, 17903221, 19082458, 19424665, 20103634, 20228800, 20814749, 21617523, 21948475, 22366949, 23962292, 25356871, 25398436, 25557355, 26838672, 27203670, 29144842, 29938191, 30185663, 30201920		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	22171659		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11603380, 26554934, 26738856, 28527574		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	26738856		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10648185, 22796607, 25356871, 27890558, 8964911		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	22761633	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	21852528, 26894505		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24577130		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	26026399		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	17294206, 18677279, 19597833		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	LHGDN	18677279		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19491256, 21725665		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12402151, 17214367, 27229159	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21934552	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28542228		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	28083713		★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	28273946	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	31091357		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	20228800, 21878675, 27997540		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19773744, 25557355, 27597974, 29555975, 30185663		★☆☆☆☆ Found in Text Mining only
Prostatic Cancer, Castration-Resistant	Prostatic Cancer, Castration-Resistant	CTD_human_DG	30185663		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36093754	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms, Castration-Resistant	Prostatic Neoplasms, Castration-Resistant	CTD_human_DG	30185663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	38110868	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	21573156		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	26559391		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	21939398		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	21684273	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28444759, 29037309, 30160204, 31713730		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26965827		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27794168		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	26894505, 30160204		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16142339, 20068366		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	39173463	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16941521, 19082458		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12032231	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	29998824		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	25658605		★☆☆☆☆ Found in Text Mining only
Tendinitis	Tendinitis	BEFREE	29471516		★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	30422819		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	23042280		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	23042280	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	25684211	Associate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	16762990, 18557729, 23635876, 25710174, 28057640, 28752844, 30870849		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26280373	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18561323, 28789701, 36575233	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	11950905, 19878546, 35924232, 9358772	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	32957329	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	25075123		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	28940198	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	10361249	Associate	★☆☆☆☆ Found in Text Mining only