PSEN1 (presenilin 1)

Gene

• Entrez ID: 5663
• Gene name: Presenilin 1
• Gene symbol: PSEN1
• Synonyms (NCBI Gene): ACNINV3, AD3, CMD1U, FAD, PS-1, PS1, PSNL1, S182
• Chromosome: 14
• Chromosome location: 14q24.2
• Summary: Alzheimer`s disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs661	G>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs63749824	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs63749836	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs63749885	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63749891	G>C,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750001	C>G,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs63750004	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs63750009	A>C,G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs63750053	G>A,T	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs63750082	G>A,C,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750083	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63750218	T>C,G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750219	G>A,T	Not-provided, likely-pathogenic	Splice acceptor variant
rs63750227	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs63750231	A>C,G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750248	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs63750265	T>A,C,G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750301	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs63750306	A>C,G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750353	A>G,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs63750391	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs63750418	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs63750450	A>G	Pathogenic	Coding sequence variant, missense variant
rs63750526	C>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750577	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750590	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750599	T>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750687	C>A,G,T	Not-provided, pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs63750730	C>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750800	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs63750815	G>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750886	C>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750900	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63750964	G>A,C,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs63751037	A>G	Pathogenic	Coding sequence variant, missense variant
rs63751068	G>C,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63751141	G>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63751144	C>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63751163	T>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63751223	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs63751229	C>G,T	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs63751235	C>G	Pathogenic	Coding sequence variant, missense variant
rs63751272	A>C,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63751278	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs63751287	A>G,T	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs63751320	A>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs63751399	T>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs63751416	C>G	Pathogenic	Coding sequence variant, missense variant
rs121917807	G>A	Pathogenic	Missense variant, coding sequence variant
rs121917808	C>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs121917809	A>G,T	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs267606983	G>C	Pathogenic	Coding sequence variant, missense variant
rs281875357	GC>TG	Pathogenic	Coding sequence variant, missense variant
rs1057518919	T>G	Pathogenic	Missense variant, coding sequence variant
rs1555355250	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555355289	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555358260	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566630791	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566630811	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566630884	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566630910	G>A	Pathogenic	Coding sequence variant, missense variant
rs1566638673	->TAT	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1566641934	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1566650594	A>T	Pathogenic	Splice acceptor variant
rs1566656702	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566657804	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1594998354	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1595035030	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005025	hsa-miR-562	Luciferase reporter assay	19789318
MIRT020666	hsa-miR-155-5p	Proteomics	18668040
MIRT025010	hsa-miR-183-5p	Sequencing	20371350
MIRT572988	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT572987	hsa-miR-935	PAR-CLIP	20371350
MIRT572986	hsa-miR-374c-5p	PAR-CLIP	20371350
MIRT572985	hsa-miR-655-3p	PAR-CLIP	20371350
MIRT572988	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT572987	hsa-miR-935	PAR-CLIP	20371350
MIRT572986	hsa-miR-374c-5p	PAR-CLIP	20371350
MIRT572985	hsa-miR-655-3p	PAR-CLIP	20371350
MIRT1269519	hsa-miR-1224-5p	CLIP-seq
MIRT1269520	hsa-miR-1225-3p	CLIP-seq
MIRT1269521	hsa-miR-1233	CLIP-seq
MIRT1269522	hsa-miR-1273f	CLIP-seq
MIRT1269523	hsa-miR-128	CLIP-seq
MIRT1269524	hsa-miR-1297	CLIP-seq
MIRT1269525	hsa-miR-1304	CLIP-seq
MIRT1269526	hsa-miR-130a	CLIP-seq
MIRT1269527	hsa-miR-130b	CLIP-seq
MIRT1269528	hsa-miR-143	CLIP-seq
MIRT1269529	hsa-miR-186	CLIP-seq
MIRT1269530	hsa-miR-2117	CLIP-seq
MIRT1269531	hsa-miR-224	CLIP-seq
MIRT1269532	hsa-miR-26a	CLIP-seq
MIRT1269533	hsa-miR-26b	CLIP-seq
MIRT1269534	hsa-miR-27a	CLIP-seq
MIRT1269535	hsa-miR-27b	CLIP-seq
MIRT1269536	hsa-miR-301a	CLIP-seq
MIRT1269537	hsa-miR-301b	CLIP-seq
MIRT1269538	hsa-miR-3120-5p	CLIP-seq
MIRT1269539	hsa-miR-3126-5p	CLIP-seq
MIRT1269540	hsa-miR-3129-3p	CLIP-seq
MIRT1269541	hsa-miR-3133	CLIP-seq
MIRT1269542	hsa-miR-3160-3p	CLIP-seq
MIRT1269543	hsa-miR-3165	CLIP-seq
MIRT1269544	hsa-miR-323-5p	CLIP-seq
MIRT1269545	hsa-miR-323b-3p	CLIP-seq
MIRT1269546	hsa-miR-3591-3p	CLIP-seq
MIRT1269547	hsa-miR-3612	CLIP-seq
MIRT1269548	hsa-miR-3619-3p	CLIP-seq
MIRT1269549	hsa-miR-3622a-5p	CLIP-seq
MIRT1269550	hsa-miR-3649	CLIP-seq
MIRT1269551	hsa-miR-3666	CLIP-seq
MIRT1269552	hsa-miR-3667-3p	CLIP-seq
MIRT1269553	hsa-miR-3691-3p	CLIP-seq
MIRT1269554	hsa-miR-3921	CLIP-seq
MIRT1269555	hsa-miR-3929	CLIP-seq
MIRT1269556	hsa-miR-4295	CLIP-seq
MIRT1269557	hsa-miR-4303	CLIP-seq
MIRT1269558	hsa-miR-4311	CLIP-seq
MIRT1269559	hsa-miR-4324	CLIP-seq
MIRT1269560	hsa-miR-4419a	CLIP-seq
MIRT1269561	hsa-miR-4419b	CLIP-seq
MIRT1269562	hsa-miR-4423-3p	CLIP-seq
MIRT1269563	hsa-miR-4426	CLIP-seq
MIRT1269564	hsa-miR-4427	CLIP-seq
MIRT1269565	hsa-miR-4433	CLIP-seq
MIRT1269566	hsa-miR-4465	CLIP-seq
MIRT1269567	hsa-miR-4478	CLIP-seq
MIRT1269568	hsa-miR-4487	CLIP-seq
MIRT1269569	hsa-miR-4506	CLIP-seq
MIRT1269570	hsa-miR-4510	CLIP-seq
MIRT1269571	hsa-miR-452	CLIP-seq
MIRT1269572	hsa-miR-454	CLIP-seq
MIRT1269573	hsa-miR-4647	CLIP-seq
MIRT1269574	hsa-miR-4653-5p	CLIP-seq
MIRT1269575	hsa-miR-4659a-3p	CLIP-seq
MIRT1269576	hsa-miR-4659b-3p	CLIP-seq
MIRT1269577	hsa-miR-4662b	CLIP-seq
MIRT1269578	hsa-miR-4667-5p	CLIP-seq
MIRT1269579	hsa-miR-4668-5p	CLIP-seq
MIRT1269580	hsa-miR-4671-3p	CLIP-seq
MIRT1269581	hsa-miR-4676-3p	CLIP-seq
MIRT1269582	hsa-miR-4677-3p	CLIP-seq
MIRT1269583	hsa-miR-4680-3p	CLIP-seq
MIRT1269584	hsa-miR-4686	CLIP-seq
MIRT1269585	hsa-miR-4695-5p	CLIP-seq
MIRT1269586	hsa-miR-4700-5p	CLIP-seq
MIRT1269587	hsa-miR-4708-3p	CLIP-seq
MIRT1269588	hsa-miR-4708-5p	CLIP-seq
MIRT1269589	hsa-miR-4751	CLIP-seq
MIRT1269590	hsa-miR-4761-5p	CLIP-seq
MIRT1269591	hsa-miR-4770	CLIP-seq
MIRT1269592	hsa-miR-4799-5p	CLIP-seq
MIRT1269593	hsa-miR-486-3p	CLIP-seq
MIRT1269594	hsa-miR-494	CLIP-seq
MIRT1269595	hsa-miR-513a-5p	CLIP-seq
MIRT1269596	hsa-miR-558	CLIP-seq
MIRT1269597	hsa-miR-570	CLIP-seq
MIRT1269598	hsa-miR-593	CLIP-seq
MIRT1269599	hsa-miR-622	CLIP-seq
MIRT1269600	hsa-miR-630	CLIP-seq
MIRT1269601	hsa-miR-637	CLIP-seq
MIRT1269602	hsa-miR-650	CLIP-seq
MIRT1269603	hsa-miR-665	CLIP-seq
MIRT1269604	hsa-miR-943	CLIP-seq
MIRT1269605	hsa-miR-1283	CLIP-seq
MIRT1269539	hsa-miR-3126-5p	CLIP-seq
MIRT1269606	hsa-miR-3130-3p	CLIP-seq
MIRT1269607	hsa-miR-3618	CLIP-seq
MIRT1269608	hsa-miR-4490	CLIP-seq
MIRT1269609	hsa-miR-455-3p	CLIP-seq
MIRT1269578	hsa-miR-4667-5p	CLIP-seq
MIRT1269586	hsa-miR-4700-5p	CLIP-seq
MIRT1269610	hsa-miR-4762-5p	CLIP-seq
MIRT1269611	hsa-miR-4774-5p	CLIP-seq
MIRT1269612	hsa-miR-4793-3p	CLIP-seq
MIRT1269593	hsa-miR-486-3p	CLIP-seq
MIRT1269613	hsa-miR-544	CLIP-seq
MIRT1269614	hsa-miR-567	CLIP-seq
MIRT1269601	hsa-miR-637	CLIP-seq
MIRT1269615	hsa-miR-654-3p	CLIP-seq
MIRT1269616	hsa-miR-934	CLIP-seq
MIRT1552658	hsa-miR-3660	CLIP-seq
MIRT1552659	hsa-miR-4526	CLIP-seq
MIRT1552658	hsa-miR-3660	CLIP-seq
MIRT1552659	hsa-miR-4526	CLIP-seq
MIRT2079213	hsa-miR-103a	CLIP-seq
MIRT2079214	hsa-miR-107	CLIP-seq
MIRT2079215	hsa-miR-1184	CLIP-seq
MIRT2079216	hsa-miR-1205	CLIP-seq
MIRT2079217	hsa-miR-1255a	CLIP-seq
MIRT2079218	hsa-miR-1255b	CLIP-seq
MIRT1269523	hsa-miR-128	CLIP-seq
MIRT2079219	hsa-miR-2115	CLIP-seq
MIRT1269534	hsa-miR-27a	CLIP-seq
MIRT1269535	hsa-miR-27b	CLIP-seq
MIRT2079220	hsa-miR-302f	CLIP-seq
MIRT1269539	hsa-miR-3126-5p	CLIP-seq
MIRT1269606	hsa-miR-3130-3p	CLIP-seq
MIRT2079221	hsa-miR-3155	CLIP-seq
MIRT2079222	hsa-miR-3155b	CLIP-seq
MIRT2079223	hsa-miR-3158-5p	CLIP-seq
MIRT1269542	hsa-miR-3160-3p	CLIP-seq
MIRT2079224	hsa-miR-3160-5p	CLIP-seq
MIRT1269543	hsa-miR-3165	CLIP-seq
MIRT2079225	hsa-miR-3613-3p	CLIP-seq
MIRT1269549	hsa-miR-3622a-5p	CLIP-seq
MIRT2079226	hsa-miR-3659	CLIP-seq
MIRT1552658	hsa-miR-3660	CLIP-seq
MIRT1269555	hsa-miR-3929	CLIP-seq
MIRT2079227	hsa-miR-3945	CLIP-seq
MIRT2079228	hsa-miR-4253	CLIP-seq
MIRT1269561	hsa-miR-4419b	CLIP-seq
MIRT1269562	hsa-miR-4423-3p	CLIP-seq
MIRT1269567	hsa-miR-4478	CLIP-seq
MIRT1552659	hsa-miR-4526	CLIP-seq
MIRT1269609	hsa-miR-455-3p	CLIP-seq
MIRT2079229	hsa-miR-4658	CLIP-seq
MIRT1269583	hsa-miR-4680-3p	CLIP-seq
MIRT2079230	hsa-miR-4693-3p	CLIP-seq
MIRT2079231	hsa-miR-4698	CLIP-seq
MIRT2079232	hsa-miR-4705	CLIP-seq
MIRT2079233	hsa-miR-4719	CLIP-seq
MIRT1269612	hsa-miR-4793-3p	CLIP-seq
MIRT2079234	hsa-miR-484	CLIP-seq
MIRT2079235	hsa-miR-510	CLIP-seq
MIRT2079236	hsa-miR-512-5p	CLIP-seq
MIRT2079237	hsa-miR-516a-3p	CLIP-seq
MIRT2079238	hsa-miR-545	CLIP-seq
MIRT2079239	hsa-miR-548c-3p	CLIP-seq
MIRT2079240	hsa-miR-548p	CLIP-seq
MIRT1269614	hsa-miR-567	CLIP-seq
MIRT1269597	hsa-miR-570	CLIP-seq
MIRT2079241	hsa-miR-574-5p	CLIP-seq
MIRT2079242	hsa-miR-579	CLIP-seq
MIRT2079243	hsa-miR-627	CLIP-seq
MIRT2079244	hsa-miR-636	CLIP-seq
MIRT2079245	hsa-miR-660	CLIP-seq
MIRT2079246	hsa-miR-890	CLIP-seq
MIRT2079247	hsa-miR-924	CLIP-seq
MIRT2079213	hsa-miR-103a	CLIP-seq
MIRT2079214	hsa-miR-107	CLIP-seq
MIRT2079215	hsa-miR-1184	CLIP-seq
MIRT2305551	hsa-miR-1224-3p	CLIP-seq
MIRT1269520	hsa-miR-1225-3p	CLIP-seq
MIRT1269521	hsa-miR-1233	CLIP-seq
MIRT2305552	hsa-miR-1252	CLIP-seq
MIRT1269524	hsa-miR-1297	CLIP-seq
MIRT2305553	hsa-miR-1305	CLIP-seq
MIRT1269526	hsa-miR-130a	CLIP-seq
MIRT1269527	hsa-miR-130b	CLIP-seq
MIRT2079219	hsa-miR-2115	CLIP-seq
MIRT2305554	hsa-miR-214	CLIP-seq
MIRT2305555	hsa-miR-221	CLIP-seq
MIRT2305556	hsa-miR-222	CLIP-seq
MIRT2305557	hsa-miR-2276	CLIP-seq
MIRT1269532	hsa-miR-26a	CLIP-seq
MIRT1269533	hsa-miR-26b	CLIP-seq
MIRT1269536	hsa-miR-301a	CLIP-seq
MIRT1269537	hsa-miR-301b	CLIP-seq
MIRT2305558	hsa-miR-3120-3p	CLIP-seq
MIRT2305559	hsa-miR-3128	CLIP-seq
MIRT2079221	hsa-miR-3155	CLIP-seq
MIRT2079222	hsa-miR-3155b	CLIP-seq
MIRT2305560	hsa-miR-3157-5p	CLIP-seq
MIRT1269543	hsa-miR-3165	CLIP-seq
MIRT2305561	hsa-miR-3202	CLIP-seq
MIRT1269544	hsa-miR-323-5p	CLIP-seq
MIRT1269545	hsa-miR-323b-3p	CLIP-seq
MIRT2305562	hsa-miR-329	CLIP-seq
MIRT1269547	hsa-miR-3612	CLIP-seq
MIRT2305563	hsa-miR-3619-5p	CLIP-seq
MIRT1269549	hsa-miR-3622a-5p	CLIP-seq
MIRT2305564	hsa-miR-362-3p	CLIP-seq
MIRT1552658	hsa-miR-3660	CLIP-seq
MIRT1269551	hsa-miR-3666	CLIP-seq
MIRT1269552	hsa-miR-3667-3p	CLIP-seq
MIRT2305565	hsa-miR-371-5p	CLIP-seq
MIRT2305566	hsa-miR-374c	CLIP-seq
MIRT1269555	hsa-miR-3929	CLIP-seq
MIRT2305567	hsa-miR-3940-5p	CLIP-seq
MIRT2305568	hsa-miR-3941	CLIP-seq
MIRT2305569	hsa-miR-4293	CLIP-seq
MIRT1269556	hsa-miR-4295	CLIP-seq
MIRT2305570	hsa-miR-4320	CLIP-seq
MIRT1269561	hsa-miR-4419b	CLIP-seq
MIRT1269562	hsa-miR-4423-3p	CLIP-seq
MIRT1269565	hsa-miR-4433	CLIP-seq
MIRT2305571	hsa-miR-4459	CLIP-seq
MIRT1269566	hsa-miR-4465	CLIP-seq
MIRT2305572	hsa-miR-4477a	CLIP-seq
MIRT1269567	hsa-miR-4478	CLIP-seq
MIRT2305573	hsa-miR-4496	CLIP-seq
MIRT2305574	hsa-miR-4507	CLIP-seq
MIRT1552659	hsa-miR-4526	CLIP-seq
MIRT2305575	hsa-miR-4533	CLIP-seq
MIRT1269572	hsa-miR-454	CLIP-seq
MIRT1269578	hsa-miR-4667-5p	CLIP-seq
MIRT2305576	hsa-miR-4668-3p	CLIP-seq
MIRT1269580	hsa-miR-4671-3p	CLIP-seq
MIRT2305577	hsa-miR-4672	CLIP-seq
MIRT2305578	hsa-miR-4690-5p	CLIP-seq
MIRT2305579	hsa-miR-4691-3p	CLIP-seq
MIRT1269585	hsa-miR-4695-5p	CLIP-seq
MIRT1269586	hsa-miR-4700-5p	CLIP-seq
MIRT2305580	hsa-miR-4703-3p	CLIP-seq
MIRT2079232	hsa-miR-4705	CLIP-seq
MIRT1269587	hsa-miR-4708-3p	CLIP-seq
MIRT2305581	hsa-miR-4715-3p	CLIP-seq
MIRT2305582	hsa-miR-4742-5p	CLIP-seq
MIRT1269590	hsa-miR-4761-5p	CLIP-seq
MIRT1269610	hsa-miR-4762-5p	CLIP-seq
MIRT2305583	hsa-miR-4772-3p	CLIP-seq
MIRT2079234	hsa-miR-484	CLIP-seq
MIRT1269593	hsa-miR-486-3p	CLIP-seq
MIRT2079235	hsa-miR-510	CLIP-seq
MIRT2079236	hsa-miR-512-5p	CLIP-seq
MIRT2079237	hsa-miR-516a-3p	CLIP-seq
MIRT2079238	hsa-miR-545	CLIP-seq
MIRT2079240	hsa-miR-548p	CLIP-seq
MIRT2305584	hsa-miR-548v	CLIP-seq
MIRT1269597	hsa-miR-570	CLIP-seq
MIRT2305585	hsa-miR-596	CLIP-seq
MIRT2305586	hsa-miR-603	CLIP-seq
MIRT1269601	hsa-miR-637	CLIP-seq
MIRT2305587	hsa-miR-645	CLIP-seq
MIRT1269602	hsa-miR-650	CLIP-seq
MIRT2305588	hsa-miR-655	CLIP-seq
MIRT1269603	hsa-miR-665	CLIP-seq
MIRT2305589	hsa-miR-7	CLIP-seq
MIRT2305590	hsa-miR-761	CLIP-seq
MIRT2305591	hsa-miR-873	CLIP-seq
MIRT2079246	hsa-miR-890	CLIP-seq
MIRT2305592	hsa-miR-944	CLIP-seq
MIRT2305593	hsa-miR-95	CLIP-seq
MIRT2079213	hsa-miR-103a	CLIP-seq
MIRT2079214	hsa-miR-107	CLIP-seq
MIRT2079215	hsa-miR-1184	CLIP-seq
MIRT2602615	hsa-miR-1197	CLIP-seq
MIRT2079216	hsa-miR-1205	CLIP-seq
MIRT2305551	hsa-miR-1224-3p	CLIP-seq
MIRT2602616	hsa-miR-1253	CLIP-seq
MIRT2079217	hsa-miR-1255a	CLIP-seq
MIRT2079218	hsa-miR-1255b	CLIP-seq
MIRT2602617	hsa-miR-1266	CLIP-seq
MIRT2602618	hsa-miR-136	CLIP-seq
MIRT2602619	hsa-miR-147	CLIP-seq
MIRT2602620	hsa-miR-185	CLIP-seq
MIRT2602621	hsa-miR-1910	CLIP-seq
MIRT2602622	hsa-miR-193a-3p	CLIP-seq
MIRT2602623	hsa-miR-193b	CLIP-seq
MIRT2602624	hsa-miR-216a	CLIP-seq
MIRT2602625	hsa-miR-216b	CLIP-seq
MIRT2602626	hsa-miR-22	CLIP-seq
MIRT2602627	hsa-miR-2277-3p	CLIP-seq
MIRT2602628	hsa-miR-2355-5p	CLIP-seq
MIRT2602629	hsa-miR-24	CLIP-seq
MIRT2602630	hsa-miR-3064-5p	CLIP-seq
MIRT2602631	hsa-miR-3065-3p	CLIP-seq
MIRT2602632	hsa-miR-3127-5p	CLIP-seq
MIRT2305559	hsa-miR-3128	CLIP-seq
MIRT2079223	hsa-miR-3158-5p	CLIP-seq
MIRT2602633	hsa-miR-3163	CLIP-seq
MIRT2602634	hsa-miR-320e	CLIP-seq
MIRT2602635	hsa-miR-340	CLIP-seq
MIRT2079225	hsa-miR-3613-3p	CLIP-seq
MIRT1269548	hsa-miR-3619-3p	CLIP-seq
MIRT2602636	hsa-miR-3620	CLIP-seq
MIRT1269550	hsa-miR-3649	CLIP-seq
MIRT2602637	hsa-miR-3667-5p	CLIP-seq
MIRT2602638	hsa-miR-370	CLIP-seq
MIRT2602639	hsa-miR-3911	CLIP-seq
MIRT2602640	hsa-miR-3918	CLIP-seq
MIRT2602641	hsa-miR-4265	CLIP-seq
MIRT2602642	hsa-miR-4296	CLIP-seq
MIRT2602643	hsa-miR-4306	CLIP-seq
MIRT1269558	hsa-miR-4311	CLIP-seq
MIRT2602644	hsa-miR-4322	CLIP-seq
MIRT2602645	hsa-miR-4437	CLIP-seq
MIRT2602646	hsa-miR-4457	CLIP-seq
MIRT1269569	hsa-miR-4506	CLIP-seq
MIRT2602647	hsa-miR-4518	CLIP-seq
MIRT2602648	hsa-miR-4644	CLIP-seq
MIRT2602649	hsa-miR-4648	CLIP-seq
MIRT2602650	hsa-miR-4654	CLIP-seq
MIRT1269579	hsa-miR-4668-5p	CLIP-seq
MIRT2602651	hsa-miR-4678	CLIP-seq
MIRT1269584	hsa-miR-4686	CLIP-seq
MIRT2602652	hsa-miR-4687-3p	CLIP-seq
MIRT2305581	hsa-miR-4715-3p	CLIP-seq
MIRT2602653	hsa-miR-4729	CLIP-seq
MIRT2602654	hsa-miR-4769-5p	CLIP-seq
MIRT2602655	hsa-miR-4800-5p	CLIP-seq
MIRT2602656	hsa-miR-485-3p	CLIP-seq
MIRT2602657	hsa-miR-487a	CLIP-seq
MIRT2602658	hsa-miR-488	CLIP-seq
MIRT2602659	hsa-miR-513b	CLIP-seq
MIRT2602660	hsa-miR-520d-5p	CLIP-seq
MIRT2602661	hsa-miR-524-5p	CLIP-seq
MIRT2079238	hsa-miR-545	CLIP-seq
MIRT2079239	hsa-miR-548c-3p	CLIP-seq
MIRT2602662	hsa-miR-548m	CLIP-seq
MIRT2079240	hsa-miR-548p	CLIP-seq
MIRT2602663	hsa-miR-548u	CLIP-seq
MIRT1269596	hsa-miR-558	CLIP-seq
MIRT1269597	hsa-miR-570	CLIP-seq
MIRT2602664	hsa-miR-581	CLIP-seq
MIRT2079243	hsa-miR-627	CLIP-seq
MIRT2602665	hsa-miR-644	CLIP-seq
MIRT2602666	hsa-miR-711	CLIP-seq
MIRT2602667	hsa-miR-888	CLIP-seq
MIRT2602668	hsa-miR-892b	CLIP-seq
MIRT2079247	hsa-miR-924	CLIP-seq
MIRT2602615	hsa-miR-1197	CLIP-seq
MIRT2602617	hsa-miR-1266	CLIP-seq
MIRT2602619	hsa-miR-147	CLIP-seq
MIRT2602621	hsa-miR-1910	CLIP-seq
MIRT2602622	hsa-miR-193a-3p	CLIP-seq
MIRT2602623	hsa-miR-193b	CLIP-seq
MIRT2602626	hsa-miR-22	CLIP-seq
MIRT2602627	hsa-miR-2277-3p	CLIP-seq
MIRT2602629	hsa-miR-24	CLIP-seq
MIRT2602630	hsa-miR-3064-5p	CLIP-seq
MIRT2602631	hsa-miR-3065-3p	CLIP-seq
MIRT2602632	hsa-miR-3127-5p	CLIP-seq
MIRT1269548	hsa-miR-3619-3p	CLIP-seq
MIRT1269550	hsa-miR-3649	CLIP-seq
MIRT2602637	hsa-miR-3667-5p	CLIP-seq
MIRT2602639	hsa-miR-3911	CLIP-seq
MIRT2602640	hsa-miR-3918	CLIP-seq
MIRT2602645	hsa-miR-4437	CLIP-seq
MIRT1269569	hsa-miR-4506	CLIP-seq
MIRT2602647	hsa-miR-4518	CLIP-seq
MIRT2602649	hsa-miR-4648	CLIP-seq
MIRT2602650	hsa-miR-4654	CLIP-seq
MIRT1269584	hsa-miR-4686	CLIP-seq
MIRT2602652	hsa-miR-4687-3p	CLIP-seq
MIRT2305581	hsa-miR-4715-3p	CLIP-seq
MIRT2602654	hsa-miR-4769-5p	CLIP-seq
MIRT2602655	hsa-miR-4800-5p	CLIP-seq
MIRT2602656	hsa-miR-485-3p	CLIP-seq
MIRT2688820	hsa-miR-486-5p	CLIP-seq
MIRT2602657	hsa-miR-487a	CLIP-seq
MIRT2602660	hsa-miR-520d-5p	CLIP-seq
MIRT2602661	hsa-miR-524-5p	CLIP-seq
MIRT2602663	hsa-miR-548u	CLIP-seq
MIRT1269596	hsa-miR-558	CLIP-seq
MIRT2602664	hsa-miR-581	CLIP-seq
MIRT2602665	hsa-miR-644	CLIP-seq
MIRT2602666	hsa-miR-711	CLIP-seq
MIRT2602668	hsa-miR-892b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB1	Activation	11116137
ELK1	Activation	12750007
SP1	Unknown	10446206

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	10508860
GO:0000139	Component	Golgi membrane	IEA
GO:0000776	Component	Kinetochore	IDA	9298903
GO:0000776	Component	Kinetochore	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001708	Process	Cell fate specification	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001921	Process	Positive regulation of receptor recycling	IEA
GO:0001947	Process	Heart looping	IEA
GO:0002038	Process	Positive regulation of L-glutamate import across plasma membrane	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002265	Process	Astrocyte activation involved in immune response	IGI	23152628
GO:0002286	Process	T cell activation involved in immune response	IEA
GO:0002573	Process	Myeloid leukocyte differentiation	IEA
GO:0003407	Process	Neural retina development	IEA
GO:0004175	Function	Endopeptidase activity	IDA	8755489
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004175	Function	Endopeptidase activity	IGI	12763021
GO:0004175	Function	Endopeptidase activity	IMP	12297508
GO:0004190	Function	Aspartic-type endopeptidase activity	IEA
GO:0004190	Function	Aspartic-type endopeptidase activity	NAS	24217950
GO:0005262	Function	Calcium channel activity	IMP	16959576
GO:0005515	Function	Protein binding	IPI	9223340, 9689133, 10508860, 11076969, 11083918, 12297508, 12522139, 12901838, 15322109, 15890777, 16007100, 16641999, 18201567, 21115843, 21143716, 21163940, 22036569, 25394380, 25959826, 26094765, 26280335, 29611543, 30559186, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	10508860
GO:0005640	Component	Nuclear outer membrane	IDA	9246482
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	12377771
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	9246482, 15274632
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005790	Component	Smooth endoplasmic reticulum	IDA	10508860
GO:0005790	Component	Smooth endoplasmic reticulum	IDA	9632714
GO:0005791	Component	Rough endoplasmic reticulum	IDA	9632714
GO:0005794	Component	Golgi apparatus	IDA	9246482, 9632714, 15274632
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	9298903
GO:0005886	Component	Plasma membrane	IDA	15274632, 21143716
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IBA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	15274632
GO:0006509	Process	Membrane protein ectodomain proteolysis	IEA
GO:0006839	Process	Mitochondrial transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IDA	25542424
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007220	Process	Notch receptor processing	IDA	27608597
GO:0007220	Process	Notch receptor processing	IEA
GO:0007220	Process	Notch receptor processing	IEA
GO:0007220	Process	Notch receptor processing	TAS	15274632
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007611	Process	Learning or memory	IGI	20445063, 24012003, 24052308
GO:0007613	Process	Memory	IEA
GO:0007613	Process	Memory	IGI	11880515
GO:0008013	Function	Beta-catenin binding	IPI	9632714
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IGI	26200696
GO:0010628	Process	Positive regulation of gene expression	IGI	28008308, 29061364
GO:0010629	Process	Negative regulation of gene expression	IGI	28008308, 29061364
GO:0010975	Process	Regulation of neuron projection development	IMP	15004326
GO:0015031	Process	Protein transport	IEA
GO:0015871	Process	Choline transport	IEA
GO:0016020	Component	Membrane	IDA	22375059, 26280335
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7596406, 8878479
GO:0016080	Process	Synaptic vesicle targeting	IEA
GO:0016235	Component	Aggresome	IDA	21143716
GO:0016485	Process	Protein processing	IBA
GO:0016485	Process	Protein processing	IDA	15274632, 27608597
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	IGI	12763021
GO:0016485	Process	Protein processing	IMP	12297508
GO:0016787	Function	Hydrolase activity	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021795	Process	Cerebral cortex cell migration	IEA
GO:0021870	Process	Cajal-Retzius cell differentiation	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030165	Function	PDZ domain binding	IPI	10551805
GO:0030182	Process	Neuron differentiation	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IDA	24012003
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IDA	15004326
GO:0030426	Component	Growth cone	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031965	Component	Nuclear membrane	IDA	9298903
GO:0031965	Component	Nuclear membrane	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IDA	17431506
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IGI	16959576
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IMP	25394380
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IGI	29061364
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	IMP	10508860
GO:0034205	Process	Amyloid-beta formation	IBA
GO:0034205	Process	Amyloid-beta formation	IDA	27608597
GO:0034205	Process	Amyloid-beta formation	IEA
GO:0034205	Process	Amyloid-beta formation	IGI	12763021
GO:0034205	Process	Amyloid-beta formation	IMP	12297508, 26280335
GO:0035253	Component	Ciliary rootlet	IEA
GO:0035282	Process	Segmentation	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0040011	Process	Locomotion	IEA
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IMP	10508860
GO:0042325	Process	Regulation of phosphorylation	IDA	9689133
GO:0042383	Component	Sarcolemma	IEA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IBA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IDA	26280335
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IEA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IEA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IMP	17428795
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042982	Process	Amyloid precursor protein metabolic process	IDA	26280335
GO:0042987	Process	Amyloid precursor protein catabolic process	IDA	27608597
GO:0042987	Process	Amyloid precursor protein catabolic process	IEA
GO:0042987	Process	Amyloid precursor protein catabolic process	IEA
GO:0042987	Process	Amyloid precursor protein catabolic process	IGI	12763021
GO:0042987	Process	Amyloid precursor protein catabolic process	IMP	12297508
GO:0042987	Process	Amyloid precursor protein catabolic process	TAS	15274632
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	15004326
GO:0043005	Component	Neuron projection	IEA
GO:0043011	Process	Myeloid dendritic cell differentiation	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	10805794
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	10508860
GO:0043198	Component	Dendritic shaft	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043589	Process	Skin morphogenesis	IEA
GO:0045121	Component	Membrane raft	IDA	20299451
GO:0045202	Component	Synapse	IEA
GO:0045296	Function	Cadherin binding	IEA
GO:0045821	Process	Positive regulation of glycolytic process	IGI	29061364
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	23794287
GO:0048143	Process	Astrocyte activation	IGI	20445063
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048666	Process	Neuron development	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048854	Process	Brain morphogenesis	IEA
GO:0050435	Process	Amyloid-beta metabolic process	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050771	Process	Negative regulation of axonogenesis	IEA
GO:0050808	Process	Synapse organization	IGI	24012003
GO:0050820	Process	Positive regulation of coagulation	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0051117	Function	ATPase binding	IPI	26094765
GO:0051208	Process	Sequestering of calcium ion	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051563	Process	Smooth endoplasmic reticulum calcium ion homeostasis	IEA
GO:0051604	Process	Protein maturation	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IEA
GO:0055074	Process	Calcium ion homeostasis	IBA
GO:0060075	Process	Regulation of resting membrane potential	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	ISS
GO:0060999	Process	Positive regulation of dendritic spine development	IMP	21951279
GO:0070050	Process	Neuron cellular homeostasis	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070765	Component	Gamma-secretase complex	IBA
GO:0070765	Component	Gamma-secretase complex	IDA	10801983, 12297508, 26280335
GO:0070765	Component	Gamma-secretase complex	IEA
GO:0070765	Component	Gamma-secretase complex	IGI	12763021
GO:0070851	Function	Growth factor receptor binding	IPI	26094765
GO:0097060	Component	Synaptic membrane	IEA
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0098609	Process	Cell-cell adhesion	IMP	11953314
GO:0098693	Process	Regulation of synaptic vesicle cycle	IEA
GO:0098712	Process	L-glutamate import across plasma membrane	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0140249	Process	Protein catabolic process at postsynapse	IEA
GO:1904646	Process	Cellular response to amyloid-beta	IGI	23152628
GO:1904797	Process	Negative regulation of core promoter binding	IMP	10508860
GO:1905908	Process	Positive regulation of amyloid fibril formation	IGI	11880515
GO:1990535	Process	Neuron projection maintenance	IGI	20445063
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IEA
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 104311
• HGNC: 9508
• e!Ensembl: ENSG00000080815

Protein

• UniProt ID: P49768
• Protein name: Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
• Protein function: Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10206644, PubMed:10545183,
• PDB: 2KR6, 4UIS, 5A63, 5FN2, 5FN3, 5FN4, 5FN5, 6IDF, 6IYC, 6LQG, 6LR4, 7C9I, 7D8X, 7Y5T, 8IM7, 8K8E, 8KCO, 8KCP, 8KCS, 8KCT, 8KCU, 8OQY, 8OQZ, 8X52, 8X53, 8X54
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01080	Presenilin	76 → 457	Presenilin	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in azurophile granules in neutrophils and in platelet cytoplasmic granules (at protein level) (PubMed:11987239). Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes (PubMe
• Sequence:

  MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSR
  QVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTE
  DTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHAWLIISSLLLLFFFSFI
  YLGEVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY
  LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAE
  GDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAA
  VQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCL
  TLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI

• Sequence length: 467

Pathways

KEGG:

Wnt signaling pathway
Notch signaling pathway
Neurotrophin signaling pathway
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection

Reactome:

Nuclear signaling by ERBB4
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
EPH-ephrin mediated repulsion of cells
Neutrophil degranulation
NOTCH3 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3

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
Abnormality of the nervous system	Pathogenic	rs63749891	RCV001814004	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acne inversa, familial, 3	Likely pathogenic; Pathogenic	rs63750450, rs63750730, rs63750550, rs63749805, rs63750353, rs63751278, rs63750004, rs63750391, rs63751210, rs63750963, rs63749806, rs63750311, rs63750053, rs63749836, rs63751420, rs63750248, rs63750301, rs63750779, rs63751139, rs63751416, rs63750929, rs2140145565, rs63750687, rs1555357544, rs1898781850, rs2140105309, rs1362575880, rs63750322, rs778630379, rs2502941276, rs63750050, rs2503063102, rs2503063306, rs749249788, rs1566650594, rs63750306, rs63750590, rs63750526, rs661, rs63751037, rs63750231, rs63751223, rs63750082, rs63751399, rs63750886, rs63749891, rs63750083, rs63749824, rs267606983, rs63750218, rs63751287, rs1595035030, rs63750900, rs1555355250, rs63750219, rs63750964, rs63751316, rs1897876766, rs63751229	RCV000640610 RCV002514493 RCV002514494 RCV005222747 RCV001854472 RCV000824341 RCV001071503 RCV001854473 RCV002513897 RCV002514495 RCV002513898 RCV001857411 RCV000640604 RCV000763347 RCV003764779 RCV005222748 RCV001387954 RCV002514496 RCV005222749 RCV002513899 RCV002513900 RCV005225421 RCV003764803 RCV002014803 RCV002037964 RCV001949489 RCV001980594 RCV003062642 RCV003062643 RCV003112298 RCV002601742 RCV002824042 RCV002876347 RCV003783616 RCV003783617 RCV001248367 RCV000534810 RCV000542870 RCV000640605 RCV003764610 RCV000701892 RCV002513125 RCV000763348 RCV000640609 RCV001228362 RCV001204170 RCV002513126 RCV000640606 RCV000529477 RCV001377214 RCV002514122 RCV000818883 RCV000022446 RCV000689465 RCV000703026 RCV001055042 RCV002533770 RCV000816670 RCV000821428 RCV005225170 RCV003769343 RCV001049005 RCV001230382 RCV005225347 RCV001378264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alzheimer disease	Likely pathogenic; Pathogenic	rs1566638673, rs63750009, rs63750219, rs1566656702, rs1566657804	RCV000736263 RCV000736262 RCV000736261 RCV000736267 RCV000736264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alzheimer disease 3	Pathogenic; Likely pathogenic	rs2140037322, rs63751475, rs63750450, rs63750730, rs63750550, rs63749805, rs63750353, rs63751278, rs63751106, rs63750004, rs63750391, rs63751210, rs63750963, rs63749806, rs63750311, rs63750053, rs63749836, rs63751024, rs63751420, rs63750248, rs63750301, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63751416, rs63750929, rs2140145565, rs1555357544, rs1898781850, rs2140105309, rs1362575880, rs63750322, rs778630379, rs2502941276, rs63750050, rs2503063102, rs2503063306, rs2503033713, rs2502958678, rs749249788, rs1566650594, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750599, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs1555355250, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316, rs1897876766	RCV001647233 RCV002271335 RCV000640610 RCV002514493 RCV002514494 RCV002272062 RCV001854472 RCV000824341 RCV001290408 RCV001071503 RCV001854473 RCV002513897 RCV002514495 RCV002513898 RCV001857411 RCV000640604 RCV000763347 RCV001808318 RCV003764779 RCV004783741 RCV001387954 RCV001261442 RCV005222749 RCV002224959 RCV005252745 RCV000198517 RCV002513899 RCV002513900 RCV001810076 RCV000625969 RCV002014803 RCV002037964 RCV001949489 RCV001980594 RCV003062642 RCV003062643 RCV003112298 RCV002601742 RCV002824042 RCV002876347 RCV003159278 RCV003320398 RCV003783616 RCV003783617 RCV000019751 RCV000534810 RCV000542870 RCV000019754 RCV000640605 RCV000019756 RCV000019757 RCV000019758 RCV000701892 RCV000019760 RCV000019762 RCV000019765 RCV000763348 RCV000019767 RCV000019768 RCV000019771 RCV000019772 RCV000019773 RCV003388569 RCV000020084 RCV000019776 RCV000019777 RCV000984888 RCV000020085 RCV000019780 RCV000019782 RCV005409602 RCV000019785 RCV000529477 RCV000019788 RCV001377214 RCV000020082 RCV000020086 RCV000689465 RCV000703026 RCV001055042 RCV002470967 RCV000782176 RCV000790841 RCV000816670 RCV000821428 RCV005225170 RCV000853575 RCV000995615 RCV001049005 RCV001230382 RCV001281064 RCV001378264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alzheimer disease 4	Pathogenic	rs63750900	RCV000031858	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease familial 3, with spastic paraparesis	Likely pathogenic	rs63750687	RCV000106293	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia	Likely pathogenic; Pathogenic	rs121917807, rs63750599	RCV000019774 RCV000019783	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques	Pathogenic	rs63750631, rs63750470	RCV002271336 RCV002271337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease, familial, 3, with unusual plaques	Pathogenic; Likely pathogenic	rs63750886, rs267606983	RCV000019778 RCV000019789	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease, familial, with spastic paraparesis and unusual plaques	Pathogenic	rs63750219, rs63750231, rs63749891	RCV002224960 RCV000019761 RCV000019769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory hallucination	Likely pathogenic	rs63750858	RCV002243711	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dementia	Likely pathogenic; Pathogenic	rs63750858, rs63750301, rs63749824, rs1057518919	RCV002243711 RCV000415376 RCV005234786 RCV000415024	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1U	Likely pathogenic; Pathogenic	rs63749836, rs63750590, rs63751223, rs63750082, rs63750083	RCV000763347 RCV002490394 RCV000763348 RCV002482890 RCV005003398	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Early onset Alzheimer disease with behavioral disturbance	Pathogenic	rs63750964	RCV000984884	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset autosomal dominant Alzheimer disease	Pathogenic	rs63751139, rs63751235	RCV001808319 RCV005861024	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Alzheimer disease	Pathogenic	rs63750761	RCV002272063	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia	Likely pathogenic; Pathogenic	rs63750450, rs63750730, rs63750550, rs63749805, rs63750353, rs63751278, rs63750004, rs63750391, rs63751210, rs63750963, rs63749806, rs63750311, rs63750053, rs63749836, rs63751420, rs63750248, rs63750301, rs63750779, rs63751139, rs63751416, rs63750929, rs2140145565, rs63750687, rs1555357544, rs1898781850, rs2140105309, rs1362575880, rs63750322, rs778630379, rs2502941276, rs63750050, rs2503063102, rs2503063306, rs749249788, rs1566650594, rs63750306, rs63750590, rs63750526, rs661, rs63751037, rs63750231, rs63751223, rs63750082, rs63751399, rs63750886, rs63749891, rs63750599, rs63750083, rs63749824, rs267606983, rs63750218, rs63751287, rs63750900, rs1555355250, rs1566630811, rs1566630884, rs63750219, rs1566630791, rs63750964, rs63751316, rs1897876766, rs1897874329, rs63751229	RCV000640610 RCV002514493 RCV002514494 RCV005222747 RCV001854472 RCV000824341 RCV001071503 RCV001854473 RCV002513897 RCV002514495 RCV002513898 RCV001857411 RCV000640604 RCV000763347 RCV003764779 RCV005222748 RCV001387954 RCV002514496 RCV005222749 RCV002513899 RCV002513900 RCV005225421 RCV003764803 RCV002014803 RCV002037964 RCV001949489 RCV001980594 RCV003062642 RCV003062643 RCV003112298 RCV002601742 RCV002824042 RCV002876347 RCV003783616 RCV003783617 RCV001248367 RCV000534810 RCV000542870 RCV000640605 RCV003764610 RCV000701892 RCV002513125 RCV000763348 RCV000640609 RCV001228362 RCV001204170 RCV002513126 RCV005409602 RCV000640606 RCV000529477 RCV001377214 RCV002514122 RCV000818883 RCV000689465 RCV000703026 RCV001055042 RCV000736265 RCV000736260 RCV002533770 RCV001196175 RCV000816670 RCV000821428 RCV005225170 RCV003769343 RCV001049005 RCV001230382 RCV001261949 RCV005225347 RCV001378264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mental deterioration	Likely pathogenic; Pathogenic	rs63750301, rs1057518919	RCV000415376 RCV000415024	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pick disease	Likely pathogenic; Pathogenic	rs63750450, rs63750730, rs63750550, rs63749805, rs63750353, rs63751278, rs63750004, rs63750306, rs63750391, rs63751210, rs63750963, rs63749806, rs63750311, rs63750053, rs63749836, rs63751420, rs63750248, rs63750301, rs63750779, rs63751139, rs63751416, rs63750929, rs2140145565, rs63750687, rs1555357544, rs1898781850, rs2140105309, rs1362575880, rs63750322, rs778630379, rs2502941276, rs63750050, rs2503063102, rs2503063306, rs749249788, rs1566650594, rs63750590, rs63750526, rs661, rs63751037, rs63750231, rs63751223, rs63750082, rs63751399, rs63750886, rs63751068, rs63749891, rs63750599, rs63750083, rs63749824, rs267606983, rs63750218, rs63751287, rs63750900, rs1555355250, rs63750219, rs63750964, rs63751316, rs63750323, rs1897876766, rs63751229	RCV000640610 RCV002514493 RCV002514494 RCV005222747 RCV001854472 RCV000824341 RCV001071503 RCV002247483 RCV001854473 RCV002513897 RCV002514495 RCV002513898 RCV001857411 RCV000640604 RCV000763347 RCV003764779 RCV005222748 RCV001387954 RCV002514496 RCV005222749 RCV002513899 RCV002513900 RCV005225421 RCV003764803 RCV002014803 RCV002037964 RCV001949489 RCV001980594 RCV003062642 RCV003062643 RCV003112298 RCV002601742 RCV002824042 RCV002876347 RCV003783616 RCV003783617 RCV001248367 RCV000534810 RCV000542870 RCV000640605 RCV003764610 RCV000701892 RCV002513125 RCV000763348 RCV000640609 RCV001228362 RCV001204170 RCV000019779 RCV002513126 RCV005409602 RCV000640606 RCV000529477 RCV001377214 RCV002514122 RCV000818883 RCV000689465 RCV000703026 RCV001055042 RCV002533770 RCV000816670 RCV000821428 RCV005225170 RCV003769343 RCV001049005 RCV002249680 RCV001230382 RCV005225347 RCV001378264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PSEN1-related disorder	Likely pathogenic; Pathogenic	rs2503026566, rs63750590, rs63750082, rs1362575880	RCV003416838 RCV003407347 RCV004752714 RCV003918832	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraparesis	Pathogenic	rs63750886	RCV000984888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic	rs1897876766	RCV002471826	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs63750323	RCV005913644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visual hallucination	Likely pathogenic	rs63750858	RCV002243711	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE, FAMILIAL, TYPE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOID NEUROPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIA NEONATORUM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1U	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY ONSET ALZHEIMERS DISEASE WITH BEHAVIORAL DISTURBANCE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLENOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abulia	Abulia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ACNE INVERSA, FAMILIAL, 3	Acne Inversa	CLINVAR_DG	10447269, 10468510, 11524469, 11684347, 11710891, 12493631, 15205973, 15776278, 16628450, 16897084, 17197420, 17288597, 17545141, 17553989, 18580586, 18797263, 20145736, 20484632, 20634584, 21373759, 21559374, 22115042, 22312439, 22461631, 22766738, 23114514, 23843529, 24011544, 24217025, 24418614, 24773620, 24880964, 25174650, 25333068, 25471389, 25741723, 25921538, 26194182, 26923592, 27014058, 27073747, 27100199, 27100200, 27206484, 27777022, 27793474, 27930341, 28350801, 29316780, 7550356, 7596406, 8634712, 8910898, 9189043, 9196071, 9225696, 9384602, 9521418, 9680315		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACNE INVERSA, FAMILIAL, 3	Acne Inversa	GENOMICS_ENGLAND_DG	20929727, 22503161, 23028126		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946, 7596406		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	7531687		★☆☆☆☆ Found in Text Mining only
Adult Learning Disorders	Learning Disorders	CTD_human_DG	25213453		★☆☆☆☆ Found in Text Mining only
Adult Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	21212640, 24121961		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	25213453, 28448946		★☆☆☆☆ Found in Text Mining only
Alexia	Alexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10101252, 10205007, 10329743, 10349860, 10366599, 10393925, 10404513, 10409650, 10441572, 10551805, 10582585, 10582597, 10595683, 10620705, 10644793, 10880397, 10899157, 10997338, 11068175, 11104755, 11278337, 11302075, 11389157, 11402035, 11796781, 12048239, 12050157, 12121968, 12413003, 12706835, 12811988, 12935881, 14559775, 14625299, 14966176, 15000414, 15230697, 15492223, 15722417, 15843437, 15975090, 16033913, 16116115, 16126725, 16199521, 16306047, 16533963, 16539675, 16763046, 16805926, 16897084, 17012294, 17079810, 17099291, 17186461, 17314098, 17428795, 17545136, 17545141, 17553989, 17615170, 18317569, 18387709, 18413479, 18437002, 18479822, 18580586, 18628954, 18667258, 18797263, 18976728, 19001354, 19019493, 19494431, 19524115, 19650138, 19776335, 19797784, 20047059, 20049724, 20064601, 20106965, 20164095, 20379593, 20393312, 20452985, 20628413, 21094210, 21159009, 21194156, 21411544, 21435348, 21681798, 21775732, 21816272, 21952501, 21971039, 22022388, 22101948, 22153900, 22166940, 22180352, 22214483, 22232349, 22267728, 22307680, 22312439, 22343824, 22460587, 22461631, 22503161, 22510327, 22532566, 22607268, 22702962, 22710270, 22829467, 22879628, 23085935, 23102120, 23114514, 23134660, 23137948, 23137949, 23224319, 23379308, 23380992, 23489366, 23579325, 23579331, 23588422, 23593396, 23884042, 23902769, 23990795, 24023061, 24121961, 24219606, 24239249, 24239350, 24363250, 24401146, 24413619, 24418614, 24463146, 24495933, 24773620, 24880964, 24906965, 25034304, 25104557, 25174650, 25285942, 25352452, 25580592, 25639959, 25762465, 25812849, 25909871, 26121081, 26139022, 26214276, 26242991, 26261684, 26280335, 26324103, 26330267, 26478578, 26573292, 26619808, 26687188, 26813969, 26836186, 26888304, 26902171, 26923015, 26949549, 26988102, 27085491, 27143420, 27206484, 27345792, 27345973, 27345998, 27357204, 27372640, 27454811, 27535542, 27585646, 27622770, 27641902, 27644130, 27732852, 27733562, 27777022, 27785004, 27789395, 27789396, 27793474, 27879212, 27926491, 28008242, 28049728, 28106563, 28209190, 28350801, 28738127, 28749476, 28764909, 28798312, 28878053, 28949931, 29078389, 29091718, 29141208, 29156377, 29175279, 29182052, 29269939, 29304399, 29361890, 29405233, 29435558, 29476165, 29486463, 29562504, 29579160, 29607920, 29661148, 29747683, 29880032, 30021643, 30040714, 30045758, 30112632, 30114415, 30138848, 30158533, 30200536, 30508025, 30549411, 30567237, 30590039, 30634129, 30716424, 30745123, 30769329, 30822648, 30904577, 30917570, 30980041, 31020001, 31026686, 31159590, 31165862, 31182772, 31203573, 31391004, 31399126, 31416668, 31557888, 31627126, 31640098, 31664702, 31686034, 31762188, 31841137, 31861093, 31937364, 32103039, 32106535, 32170138, 32216003, 32388561, 32418361, 32437347, 32470423, 32493431, 32568193, 32589876, 32611637, 32722745, 32762790, 32825838, 32894632, 32912283, 32925067, 32977230, 33006056, 33023779, 33180114, 33188256, 33213512, 33263761, 33264156, 33319314, 33413468, 33440141, 33451357, 33476461, 33571524, 33839546, 33892504, 33973882, 34067945, 34088008, 34092645, 34102969, 34133918, 34193504, 34207526, 34219716, 34252876, 34319632, 34365482, 34463747, 34572073, 34918018, 34946903, 34948396, 34987110, 35065037, 35120450, 35226190, 35231845, 35246267, 35260199, 35328387, 35365805, 35380901, 35421846, 35449212, 35563300, 35694921, 35695802, 35752680, 35768838, 35838824, 35850649, 35879380, 35932032, 36039401, 36120786, 36130084, 36175824, 36217304, 36251323, 36314207, 36362122, 36464806, 36555832, 36572121, 36626935, 36788318, 36951251, 36982820, 37085492, 37108607, 37185154, 37291760, 37341843, 37352850, 37553376, 37628788, 37686347, 37759801, 37772794, 37864790, 37895139, 37924159, 37958671, 37959001, 38069323, 38203287, 38374753, 38417436, 39173065, 39322953, 39354618, 39766777, 39863323, 39875235, 39903689, 40016812, 40149496, 40332390, 40363838, 40542358, 40588692, 40723827, 8618867, 8804415, 8830658, 9033258, 9110991, 9144240, 9250173, 9275228, 9292885, 9375682, 9436726, 9443865, 9452432, 9461055, 9540849, 9546349, 9576554, 9602117, 9639678, 9689133, 9719376, 9822712, 9822738, 9880584, 9886077	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALZHEIMER DISEASE 2	Alzheimer disease	BEFREE	12037434, 20375137, 9181359		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease Familial 3 with Spastic Paraparesis and Apraxia	Alzheimer disease	Pubtator	30138848	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease type 1	Alzheimer disease	Pubtator	18580586, 20164095, 22101948, 30045758, 38069323, 38203287	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	10090481, 10200054, 10329743, 10337065, 10366599, 10401002, 10430510, 10439444, 10549825, 10573013, 10582597, 10644793, 10655540, 10694435, 10732806, 10768621, 10854108, 10860781, 10896268, 11099448, 11165779, 11568920, 11701593, 11706935, 11710891, 11757955, 11796781, 12111439, 12213305, 12484344, 12752408, 12754354, 12885573, 12925374, 14552909, 14570818, 14581682, 14623725, 14769392, 15119738, 15119739, 15196662, 15205973, 15212842, 15272895, 15337637, 15364419, 15534188, 16344340, 16388371, 16469444, 16628450, 17507029, 17645236, 17931627, 18403054, 18437002, 18525293, 18797263, 19073399, 19797784, 19853643, 20213228, 21094210, 21212640, 21501661, 21959359, 22426017, 22815225, 23046926, 23123781, 23415546, 23850332, 24239247, 24239249, 24413619, 24463146, 24495933, 24718101, 24880964, 24906965, 25138979, 26145164, 26159201, 26756738, 26836192, 26949549, 27120160, 27535542, 27585646, 27785004, 27793474, 27816212, 27836335, 28106563, 28131463, 28461250, 28532645, 28550254, 28738127, 28753475, 28764909, 29175279, 29562504, 29930232, 30104866, 30114415, 30180983, 30797548, 30814350, 30958370, 31153663, 31204041, 31235344, 31296348, 31322578, 31381512, 31385772, 31391004, 8596269, 8634712, 8733303, 8733749, 8742474, 8910898, 9007311, 9052708, 9073509, 9121726, 9151738, 9172170, 9180219, 9185685, 9189920, 9225696, 9292884, 9298817, 9334350, 9347932, 9347936, 9404712, 9443865, 9485068, 9562461, 9595861, 9719376, 9728730, 9790190, 9822712, 9831473, 9833068, 9923762		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946, 7596406		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia	Alzheimer Disease, With Spastic Paraparesis And Apraxia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia	Alzheimer Disease, With Spastic Paraparesis And Apraxia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease, familial, type 3	Alzheimer disease	UNIPROT_DG	10025789, 10090481, 10200054, 10208579, 10439444, 10441572, 10447269, 10533070, 10631141, 10644793, 11027672, 11524469, 11561050, 11568920, 11701593, 11710891, 11796781, 11920851, 12048239, 12058025, 12370477, 12484344, 12493737, 12552037, 15004326, 15122701, 15364419, 15534188, 15534260, 15851849, 16305624, 16344340, 16628450, 16752394, 16897084, 16959576, 17366635, 17428795, 17502474, 18430735, 19667325, 19797784, 20164095, 20460383, 21335660, 21501661, 22461631, 22503161, 22529981, 23123781, 23843529, 24121961, 24495933, 24582897, 25394380, 26145164, 26280335, 26549787, 27073747, 27930341, 29175279, 29404783, 29466804, 30180983, 30200536, 7550356, 7596406, 7651536, 8634711, 8634712, 8733303, 8837617, 9172170, 9225696, 9298817, 9384602, 9507958, 9521423, 9719376, 9831473, 9833068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer disease, familial, type 3	Alzheimer disease	CLINVAR_DG	10447269, 10468510, 11524469, 11684347, 11710891, 12493631, 12493737, 15205973, 15776278, 16628450, 16897084, 17197420, 17288597, 17545141, 17553989, 18580586, 18797263, 20145736, 20484632, 20634584, 21373759, 21559374, 22115042, 22312439, 22461631, 22766738, 23114514, 23843529, 24011544, 24121961, 24217025, 24418614, 24773620, 24880964, 25174650, 25333068, 25471389, 25741723, 25921538, 26194182, 26923592, 27014058, 27073747, 27100199, 27100200, 27206484, 27777022, 27793474, 27930341, 28350801, 29316780, 31153663, 7550356, 7596406, 8634712, 8910898, 9189043, 9196071, 9225696, 9384602, 9521418, 9680315		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	10732806, 11129109, 12154029, 26079324, 26159201, 28532645, 8634711, 8837617, 9185685, 9804121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer disease, familial, type 3	Alzheimer disease	GENOMICS_ENGLAND_DG	22503161, 23028126, 26539891, 28664294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	10050959, 10329743, 10482954, 10500259, 10815136, 11030797, 11757955, 11775232, 16938285, 17188713, 17366635, 17719017, 18628954, 19017784, 22312439, 23134660, 26014970, 26079324, 26159201, 26549787, 28269784, 28753475, 30518596, 31153663, 8596269, 8848249, 8910899, 8930979, 9111746, 9121726, 9129727, 9180219, 9270069, 9619639, 9622000		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946, 7596406		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946, 7596406		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946, 7596406		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	17981591, 18580586, 19181896, 22042871, 27388605		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	Pubtator	32894632	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	10369213, 10636133, 10899157, 12392798, 12706835, 15755686, 16150121, 17596707, 19276551, 20456003, 20630068, 21621296, 22023247, 22219198, 22708832, 24192669, 25408217, 25422493, 25917310, 26581893, 28223223, 28490448, 28533369, 28636676, 29097202, 29107186, 29164616, 29395359, 30040726, 30283032, 30315100, 30445024, 30682043, 30803762, 31097468, 31810131, 9354339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	CTD_human_DG	23541064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	Pubtator	26139022	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	11200686, 25174650		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25174650	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	36707813	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	11916749		★☆☆☆☆ Found in Text Mining only
Anomia	Anomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Antley-Bixler Syndrome, Autosomal Dominant	Antley-Bixler Syndrome	BEFREE	18455494		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31217332		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	34207526	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31217332		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	19001354, 30200536	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia, Progressive	Aphasia	BEFREE	8080245		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	24737487		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	30200536, 37958671	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	28767663	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia	Asphyxia	Pubtator	34067945	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	CTD_human_DG	17963755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	10473269, 10502036, 10632899, 30786875		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	20047059, 20858974, 23134660, 23593396, 26507310, 32103039, 33973882, 34102969, 38203287	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19001354, 30200536, 34207526	Associate	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	26410308, 26888304, 9368568		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	19797784	Associate	★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	ORPHANET_DG	11094121		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	Orphanet			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25542424		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	22766738, 27535542		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23579325	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	16716112		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24223915		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22983174	Associate	★☆☆☆☆ Found in Text Mining only
Broca Aphasia	Broca Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG	24121961		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	36175824	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	37341843	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35563300	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29970709, 34925377	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25542424		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	30055028	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	17186461, 28617969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	29068127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	29068127		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17186461, 20194882	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	17186461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	21656036, 24101600		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1u	Cardiomyopathy	UNIPROT_DG	17186461, 27930341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1u	Cardiomyopathy	GENOMICS_ENGLAND_DG	22503161, 23028126, 28664294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1u	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1u	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17186461, 21656036		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	17186461		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11916749, 28617969		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	39766777	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25883527		★☆☆☆☆ Found in Text Mining only
Cataract posterior polar 1	Congenital cataract	Pubtator	25883527	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	21159009	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG	24121961		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	28532646		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	21159009	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	23415546, 24569455		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	10644793, 11701593, 16400027, 25408217, 26401689, 29641600, 9368568		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	10644793, 26888304, 33918046, 34319632	Associate	★☆☆☆☆ Found in Text Mining only
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	BEFREE	11914409		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	22766738, 23134660, 27535542		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	23134660		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type	Cerebral Amyloid Angiopathy	BEFREE	9225691		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	10502036		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	33918046	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	36175824	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	10799751		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	26159191		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	35976206	Stimulate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28827680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	28827680		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	27023477		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29775888		★☆☆☆☆ Found in Text Mining only
clinical depression	Mental Depression	BEFREE	21373759		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	10467268, 15578094, 18797263, 22014620, 25854934, 25862638, 28623607, 29378298, 29579687, 29739836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	16199521, 17012294, 18797263, 19494431, 23137949, 23990795, 24413619, 25580592, 26478578, 26902171, 27785004, 29435558, 30745123, 32611637, 32825838, 32894632, 33264156, 33918046, 34252876, 34463747, 34924385, 35231845, 35695802, 36039401, 36314207, 37291760, 39354618	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	CTD_human_DG	26945731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognitive Dysfunction	Cognition disorder	Pubtator	17012294, 26478578, 27206484, 27372640, 32825838, 33263761, 34946903, 36555832, 37895139, 38203287	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	36059511	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34129943, 36059511	Associate	★☆☆☆☆ Found in Text Mining only
Compulsive hoarding	Compulsive Hoarding	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	27614114		★☆☆☆☆ Found in Text Mining only
Confusion	Confusion	Pubtator	20164095, 34207526	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17186461, 28617969, 29521549		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	Pubtator	2849032	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12154029		★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	19001354	Associate	★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Familial	Creutzfeldt-Jakob disease	BEFREE	10896268		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	CTD_human_DG	23541064		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Spinal Cord	Degenerative Diseases, Central Nervous System	CTD_human_DG	23541064		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	LHGDN	16401857		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG	24121961		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10581479, 10636133, 10923058, 11030797, 11094121, 11920851, 12817569, 12883830, 14967768, 15159497, 15258222, 16344340, 16388371, 16401857, 16805926, 17507029, 17615170, 17627113, 17995932, 18028191, 18045903, 18078356, 19912322, 21296022, 21297263, 21501974, 22572737, 22882713, 23114514, 23123781, 2314579, 24121961, 24569455, 24718101, 25812849, 26159191, 26242991, 26350633, 26478578, 27454811, 28079014, 28532645, 29191219, 29466804, 30716424, 31322578, 8947284, 9129727, 9237487, 9354339, 9622002, 9728730		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dementia	Dementia	LHGDN	11836371, 11920851, 11973477, 15159497, 15469450, 16344340, 16401857, 17718701, 18024701, 18587238		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dementia	Dementia	Pubtator	17615170, 19001354, 19494431, 19797784, 20020531, 20838797, 21163230, 21297263, 22312439, 22503161, 22829467, 23114514, 23137948, 23137949, 23489366, 24121961, 24906965, 25812849, 26478578, 26836186, 29476165, 30716424, 30745123, 31836585, 32611637, 32912283, 32925067, 33061333, 34102969, 34207526, 36951251, 37759801, 37895139	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dementia	Dementia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dementia	Dementia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	10940674, 17627113, 8947284, 9270069		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	10904126, 14966176, 20052609, 28591462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	11567612, 14966176, 20052609, 21373759, 22045496		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	14966176, 22590542, 34207526	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	26916443		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26916443		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10491312, 11822825, 31184536, 31529929, 7821738, 8621016		★☆☆☆☆ Found in Text Mining only
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine Dehydrogenase Deficiency	BEFREE	21420945		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	19001354	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10581479, 10951459, 15308304, 20456003, 24773620, 28767121, 31133787, 8773595, 9737546		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	15159497		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	LHGDN	16401857, 18580586		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	18580586	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	24906965	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
DYSTONIA 16 (disorder)	Dystonia	BEFREE	28664294		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	28664294		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	18797263, 31298959		★☆☆☆☆ Found in Text Mining only
Early-onset autosomal dominant Alzheimer disease	Alzheimer disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometriosis	Endometriosis	BEFREE	31445519		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	34926703	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15230697, 21501974, 23948899		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	15230697, 24906965	Associate	★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	37341843	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10025714, 10076867, 10078973, 10090481, 10095119, 10206644, 10229234, 10327206, 10360683, 10386952, 10400232, 10447269, 10508860, 10509383, 10574364, 10582585, 10587643, 10620705, 10662508, 10670705, 10671322, 10705645, 10850859, 10867173, 10899157, 10923058, 10924767, 10934205, 10936878, 10956569, 11027672, 11070093, 11084029, 11104755, 11124426, 11126202, 11146649, 11193144, 11193154, 11266019, 11279122, 11405810, 11406343, 11551913, 11731004, 11897569, 11920851, 12079399, 12192622, 12213305, 12218704, 12390529, 12410385, 12686406, 12730216, 12811988, 14515347, 14552909, 14623725, 14751770, 14751776, 14993906, 15000414, 15006708, 15055444, 15119738, 15230697, 15246822, 15312963, 15350971, 15363492, 15469450, 15505368, 15663477, 15718035, 15766275, 15776278, 15781968, 15851849, 15864339, 15975068, 15992373, 16006137, 16086583, 16407539, 16574645, 16620965, 16752394, 16897084, 16908971, 16908988, 16916581, 16923170, 16948293, 16952411, 17012294, 17099291, 17169464, 17210196, 17428795, 17431506, 17522104, 17545141, 17596450, 17630980, 17632280, 17981814, 17995932, 18045903, 18184791, 18239458, 18376127, 18413479, 18430735, 18466334, 18506641, 18760694, 18797263, 19111578, 19252791, 19306098, 19494431, 19604328, 19675248, 20008141, 20032300, 20158511, 20160458, 20164095, 20421691, 20452985, 20460383, 20634584, 20842367, 20847418, 21084313, 21086758, 21094210, 21144619, 21194156, 21238544, 21335660, 21435348, 21501661, 21681798, 21816272, 22042871, 22232349, 22461631, 22508690, 22810102, 22829467, 22882713, 23085935, 23380992, 23489366, 23579331, 23624206, 23674689, 23792692, 23843529, 23933749, 24101600, 24192669, 24239350, 24256243, 24413619, 24416243, 24418614, 24463146, 24569455, 24582897, 24625695, 24737487, 24860142, 25182745, 25307057, 25408217, 25639959, 25694106, 25741723, 25748120, 25762465, 26051801, 26112421, 26145164, 26214276, 26350633, 26401689, 26462451, 26478578, 26481686, 26559975, 26678016, 26695639, 26872378, 26925509, 27060961, 27143420, 27206484, 27601731, 27644130, 27789395, 27789396, 27810638, 27816212, 28269784, 28554858, 28623607, 28636676, 28664294, 28707074, 29404783, 29466804, 29614680, 29690919, 29857474, 30040726, 30138848, 30158533, 30201812, 30289529, 30412492, 30567237, 30598257, 30599314, 30682043, 30822634, 30904577, 30958370, 31020001, 31026686, 31053140, 31203573, 31217332, 31416668, 31467635, 31594233, 31627126, 31697913, 31726777, 31762188, 3210054, 7550356, 8080245, 8574969, 8705854, 8733303, 8766720, 8799182, 8806669, 8837617, 8841992, 8895894, 8904759, 8910898, 8910899, 8931704, 8938131, 8945747, 9007097, 9007311, 9106743, 9109915, 9111746, 9126060, 9160754, 9212102, 9224802, 9292884, 9354339, 9375682, 9398634, 9414118, 9436726, 9461055, 9507958, 9521423, 9535737, 9539132, 9539133, 9562461, 9562973, 9573389, 9622002, 9639678, 9712537, 9751187, 9781063, 9791532, 9791533, 9804121, 9822738, 9831473, 9880584		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946, 7596406		★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	BEFREE	15534260, 18587238, 23489366		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	17186461		★☆☆☆☆ Found in Text Mining only
Familial encephalopathy with neuroserpin inclusion bodies	Encephalopathy With Neuroserpin Inclusion Bodies	BEFREE	11914409		★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	BEFREE	9838922		★☆☆☆☆ Found in Text Mining only
Favism	Favism	BEFREE	11916749		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	CLINVAR_DG	24121961		★☆☆☆☆ Found in Text Mining only
Flexion contracture-shoulder	Shoulder flexion contracture	CLINVAR_DG	24121961		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	17183144		★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	CLINVAR_DG	10447269, 10468510, 11524469, 11684347, 11710891, 12493631, 15205973, 15776278, 16628450, 16897084, 17197420, 17288597, 17545141, 17553989, 18580586, 18797263, 20145736, 20484632, 20634584, 21373759, 21559374, 22115042, 22312439, 22461631, 22766738, 23114514, 23843529, 24011544, 24217025, 24418614, 24773620, 24880964, 25174650, 25333068, 25471389, 25741723, 25921538, 26194182, 26923592, 27014058, 27073747, 27100199, 27100200, 27206484, 27777022, 27793474, 27930341, 28350801, 29316780, 7550356, 7596406, 8634712, 8910898, 9189043, 9196071, 9225696, 9384602, 9521418, 9680315		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia	Frontotemporal dementia	BEFREE	11094121, 11914409, 11973477, 11997713, 12053127, 15122701, 16546171, 16948293, 17071927, 19276543, 20683187, 21297264, 21860086, 21971039, 23489366, 23885714, 23948899, 25604855, 26159191		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia	Frontotemporal dementia	UNIPROT_DG	11094121		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia	Frontotemporal dementia	CTD_human_DG	11094121		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	19001354, 19012865, 19494431, 21971039, 22503161, 23489366, 24880964, 30528349, 31914217, 32977230, 35752680	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia	Frontotemporal dementia	GENOMICS_ENGLAND_DG	22503161, 23028126, 26539891, 28664294		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	17030535, 19606065, 23794434		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	15525722		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	12686406		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10340748, 20164584		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19688792	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21420945		★☆☆☆☆ Found in Text Mining only
Grammar-specific speech disorder	Grammar-specific speech disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	15389761		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	22460587	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	17186461, 28617969, 29521549		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart Failure	Heart failure	Pubtator	17186461	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	30544224		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hidradenitis suppurativa, familial	Hidradenitis suppurativa	CTD_human_DG	20929727		★☆☆☆☆ Found in Text Mining only
Hidradenitis suppurativa, familial	Hidradenitis suppurativa	BEFREE	24101600		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10463359		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	17981814		★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	9237487		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30682043		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	27888801	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28760945, 31708792		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12050157	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	10467268, 10923058, 15578094, 18403054, 18797263, 19581722, 21296022, 22014620, 23850332, 23948899, 25661995, 25854934, 25862638, 28108292, 28392767, 28623607, 28664294, 29100755, 29378298, 29434767, 29579687, 29739836, 29775888, 30031059, 30172223, 30180983, 30389579, 30814350, 31082410, 31121563, 31386938, 31467635, 9666479		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	9855208		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	27023477		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	15534260, 30549411		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	30549411, 36555832	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	25213453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disabilities	Learning Disorders	BEFREE	30716424		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disabilities	Learning disorders	Pubtator	30716424	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	25213453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disturbance	Learning Disorders	CTD_human_DG	25213453		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31142678		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	16401857, 26401689		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	15732120, 16344340, 18045903, 19606065, 24860142, 25604855, 27312774, 27768960, 31165862, 9427340		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	19001354, 27312774, 31165862, 34207526, 36114914, 36362122	Associate	★☆☆☆☆ Found in Text Mining only
Limb apraxia	Limb apraxia	BEFREE	31282415		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20578140, 29970709		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24418614	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	25902174		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24223915		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	11517342, 30686983		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26872378, 30161272		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25542424		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11916749, 17194181, 26111032, 26838129, 29719197, 30615965, 31091472		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28827680		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	8621016		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35563300	Inhibit	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	18580586, 20164095, 21094210, 25352452, 28878053, 30200536, 34207526	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory Disorders	CTD_human_DG	25213453, 28448946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	11567612, 14966176, 20052609, 21373759, 22045496		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	14966176, 20052609, 28591462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma Malignant	Mesothelioma	Pubtator	25902174	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30318261		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35976206	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	12399144, 14769392, 26159191, 26478578, 27372640, 29053824, 31686034		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21678067, 31159590, 31203573, 37895139	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	19606065		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	32106535	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	32103039	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30089166, 31091472		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	34193504	Associate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	32493431	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	29068127		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28464439		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	9546349	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20578140, 21890747, 25622187		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26971934, 31091472		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10360683, 10400232, 10430510, 10473269, 10587643, 10632899, 10655540, 10658639, 11311782, 11382407, 11599009, 11746362, 12213305, 12218704, 12750007, 12850546, 15950763, 16916581, 17099291, 17401156, 18706205, 19329227, 20164584, 21373759, 22508690, 23624206, 31235249, 9507958		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22489754, 27785004, 33383341, 34586830	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11973477, 11997713, 12410385, 12883830, 17030535, 19834068, 20616000, 22027014, 27312774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	CTD_human_DG	23541064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	27641902	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Hidradenitis suppurativa	Hidradenitis suppurativa	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21538175		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	18297084		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	BEFREE	18297084		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12758175, 33921111	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	18580586, 19494431, 19797784, 27614114, 30567237, 35365805	Associate	★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	30567237	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19606065, 24860142, 25604855, 25808939		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25174650, 25808939, 34207526, 40363838	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	28764909, 36114914	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	12111359, 15469450, 22882713, 23948899, 28764909, 30180983, 31322578		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	LHGDN	15469450		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Perifolliculitis	Perifolliculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	CLINVAR_DG	10447269, 10468510, 11524469, 11684347, 11710891, 12493631, 15205973, 15776278, 16628450, 16897084, 17197420, 17288597, 17545141, 17553989, 18580586, 18797263, 20145736, 20484632, 20634584, 21373759, 21559374, 22115042, 22312439, 22461631, 22766738, 23114514, 23843529, 24011544, 24217025, 24418614, 24773620, 24880964, 25174650, 25333068, 25471389, 25741723, 25921538, 26194182, 26923592, 27014058, 27073747, 27100199, 27100200, 27206484, 27777022, 27793474, 27930341, 28350801, 29316780, 7550356, 7596406, 8634712, 8910898, 9189043, 9196071, 9225696, 9384602, 9521418, 9680315		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	11094121, 11914409, 11973477, 11997713, 12053127, 15122701, 15622541, 16546171, 16948293, 17071927, 19276543, 19606065, 20683187, 23948899, 24101600, 25604855		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	CTD_human_DG	15122701, 15622541		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	UNIPROT_DG	15122701		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	LHGDN	15622541		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	GENOMICS_ENGLAND_DG	22503161, 23028126, 26539891, 28664294		★☆☆☆☆ Found in Text Mining only
Posterior cortical atrophy syndrome	Posterior cortical atrophy	BEFREE	23593396		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	25326153		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	31142678		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10581479, 10636133, 10720282, 10923058, 11030797, 11094121, 11379823, 11920851, 12111359, 12615638, 12817569, 12883830, 14967768, 15159497, 15258222, 16216949, 16344340, 16388371, 16401857, 16805926, 17507029, 17615170, 17995932, 18028191, 18045903, 18078356, 19912322, 21296022, 21297263, 21501974, 22572737, 22882713, 23114514, 23123781, 2314579, 23415546, 24121961, 24569455, 24718101, 25812849, 26159191, 26242991, 26350633, 26478578, 27454811, 28079014, 28532645, 29191219, 29466804, 30716424, 31322578, 8947284, 9129727, 9237487, 9354339, 9622002, 9728730		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	15622541, 16449385, 16651627, 17192785, 17573346, 17962197, 18227305, 22507317, 25352456, 25714973, 27117003, 28448946, 7596406		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	23579325		★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	ORPHANET_DG	15122701		★☆☆☆☆ Found in Text Mining only
Progressive non-fluent aphasia	Progressive Non-Fluent Aphasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	26159191		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	9436726	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	9535737		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12154029		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	9535737		★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	26481686		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	15230697, 18580586, 19001354, 22503161	Associate	★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	CTD_human_DG	11094121		★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	ORPHANET_DG	11094121		★☆☆☆☆ Found in Text Mining only
Semantic dementia	Semantic Dementia	Orphanet			★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	10340748, 10468510, 10705645, 11021833, 11126202, 12410385, 12582468, 15122701, 15277614, 22269164, 29775888, 8705854, 9206974, 9576554, 9831464		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	11517342		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	32437347	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	17507029, 19912322		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	24906965	Associate	★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	9368568		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23740836		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27349552	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31944856, 39215239	Associate	★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26872378, 30161272		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23137948	Associate	★☆☆☆☆ Found in Text Mining only
Subcortical dementia	Subcortical dementia	BEFREE	15469450		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	15122701, 17071927		★☆☆☆☆ Found in Text Mining only
Temporal cortical atrophy	Temporal cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine Deficiency	BEFREE	29490669		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34767591	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27888801	Associate	★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	26434588		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25542424	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	26397152	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27581326	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16400027		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	21323574		★☆☆☆☆ Found in Text Mining only