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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of the nervous system	Pathogenic	rs63749891	RCV001814004
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
Alzheimer disease	Likely pathogenic; Pathogenic	rs1566638673, rs63750009, rs63750219, rs1566656702, rs1566657804	RCV000736263 RCV000736262 RCV000736261 RCV000736267 RCV000736264
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
Alzheimer disease 4	Pathogenic	rs63750900	RCV000031858
Alzheimer disease familial 3, with spastic paraparesis	Likely pathogenic	rs63750687	RCV000106293
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia	Likely pathogenic; Pathogenic	rs121917807, rs63750599	RCV000019774 RCV000019783
Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques	Pathogenic	rs63750631, rs63750470	RCV002271336 RCV002271337
Alzheimer disease, familial, 3, with unusual plaques	Pathogenic; Likely pathogenic	rs63750886, rs267606983	RCV000019778 RCV000019789
Alzheimer disease, familial, with spastic paraparesis and unusual plaques	Pathogenic	rs63750219, rs63750231, rs63749891	RCV002224960 RCV000019761 RCV000019769
Auditory hallucination	Likely pathogenic	rs63750858	RCV002243711
Dementia	Likely pathogenic; Pathogenic	rs63750858, rs63750301, rs63749824, rs1057518919	RCV002243711 RCV000415376 RCV005234786 RCV000415024
Dilated cardiomyopathy 1U	Likely pathogenic; Pathogenic	rs63749836, rs63750590, rs63751223, rs63750082, rs63750083	RCV000763347 RCV002490394 RCV000763348 RCV002482890 RCV005003398
Early onset Alzheimer disease with behavioral disturbance	Pathogenic	rs63750964	RCV000984884
Early-onset autosomal dominant Alzheimer disease	Pathogenic	rs63751139, rs63751235	RCV001808319 RCV005861024
Familial Alzheimer disease	Pathogenic	rs63750761	RCV002272063
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
Mental deterioration	Likely pathogenic; Pathogenic	rs63750301, rs1057518919	RCV000415376 RCV000415024
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
PSEN1-related disorder	Likely pathogenic; Pathogenic	rs2503026566, rs63750590, rs63750082, rs1362575880	RCV003416838 RCV003407347 RCV004752714 RCV003918832
Spastic paraparesis	Pathogenic	rs63750886	RCV000984888
Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic	rs1897876766	RCV002471826
Thyroid cancer, nonmedullary, 1	Pathogenic	rs63750323	RCV005913644
Visual hallucination	Likely pathogenic	rs63750858	RCV002243711

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Likely benign	rs77983620	RCV005915351
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs149562759	RCV005913768
Dilated Cardiomyopathy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs886050670, rs563773430, rs886050661, rs200531676, rs574671310, rs886050680, rs886050662, rs1800839	RCV000281404 RCV000271117 RCV000333397 RCV000289019 RCV000377452 RCV000402268 RCV000282773 RCV000408289
Familial cancer of breast	Benign	rs199723282	RCV005889679
Heart failure	Conflicting classifications of pathogenicity	rs121917809	RCV000171844
Lung cancer	Likely benign	rs77983620	RCV005915355
Malignant tumor of esophagus	Likely benign	rs77983620	RCV005915350
Ovarian serous cystadenocarcinoma	Likely benign	rs77983620	RCV005915353
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs121917809	RCV000171844
Sarcoma	Likely benign	rs77983620	RCV005915352
Thymoma	Likely benign	rs77983620	RCV005915354

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	12706835, 18317569, 30786875, 31391004, 32033164, 32894632, 34463747, 34759019, 37895139, 9250173
Abnormalities Drug Induced	Associate	23579331, 26923015, 31416668
Adenocarcinoma	Associate	34818353
Adenocarcinoma of Lung	Associate	35710585
Adrenal Cortex Diseases	Associate	23134660
Affective Disorders Psychotic	Associate	33264156
Agnosia	Associate	30200536, 32103039, 33263761
Alcohol Amnestic Disorder	Associate	27777022
Alzheimer Disease	Associate	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
Alzheimer Disease Familial 3 with Spastic Paraparesis and Apraxia	Associate	30138848
Alzheimer disease type 1	Associate	18580586, 20164095, 22101948, 30045758, 38069323, 38203287
Amnesia	Associate	32894632
Amyloidosis	Associate	26139022
Amyotrophic Lateral Sclerosis	Associate	25174650
Amyotrophic lateral sclerosis 1	Associate	36707813
Anxiety	Associate	34207526
Aphasia	Associate	19001354, 30200536
Aphasia Broca	Associate	25812849
Aphasia Primary Progressive	Associate	23579325
Apraxias	Associate	30200536, 37958671
Arrhythmogenic Right Ventricular Dysplasia	Associate	28767663
Asphyxia	Associate	34067945
Atrophy	Associate	20047059, 20858974, 23134660, 23593396, 26507310, 32103039, 33973882, 34102969, 38203287
Attention Deficit Disorder with Hyperactivity	Associate	19001354, 30200536, 34207526
Basal Ganglia Diseases	Associate	19797784
Brain Diseases	Associate	23579325
Breast Neoplasms	Associate	22983174
CADASIL	Associate	36175824
Calcinosis	Associate	37341843
Carcinogenesis	Associate	35563300
Carcinoma Hepatocellular	Associate	29970709, 34925377
Carcinoma Ovarian Epithelial	Associate	30055028
Cardiomyopathy Dilated	Associate	17186461, 20194882
Cardiovascular Diseases	Associate	39766777
Cataract posterior polar 1	Associate	25883527
Cerebellar Ataxia	Associate	21159009
Cerebellar Diseases	Associate	21159009
Cerebral Amyloid Angiopathy	Associate	10644793, 26888304, 33918046, 34319632
Cerebral Palsy	Associate	33918046
Cerebral Small Vessel Diseases	Associate	36175824
Cerebrovascular Disorders	Stimulate	35976206
Chromosome Aberrations	Associate	32894632, 33892504
Cognition Disorders	Associate	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
Cognitive Dysfunction	Associate	17012294, 26478578, 27206484, 27372640, 32825838, 33263761, 34946903, 36555832, 37895139, 38203287
Colonic Diseases	Associate	36059511
Colorectal Neoplasms	Associate	34129943, 36059511
Confusion	Associate	20164095, 34207526
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19001354, 29486463
Conjunctivitis	Associate	2849032
Corticobasal Degeneration	Associate	19001354
Creutzfeldt Jakob Syndrome	Associate	19494431, 24880964
Death	Associate	17186461, 19776335, 24121961, 30055028
Delusional Parasitosis	Associate	27454811
Dementia	Associate	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
Depressive Disorder	Associate	14966176, 22590542, 34207526
dermatophilosis	Associate	24252272, 34319632
Diffuse Neurofibrillary Tangles with Calcification	Associate	9033258
Disease	Associate	17186461
Disruptive Impulse Control and Conduct Disorders	Associate	19001354
Dysarthria	Associate	18580586
Dyskinesias	Associate	24906965
Early Onset Glaucoma	Associate	16033913
Epidermodysplasia Verruciformis	Associate	34926703
Epilepsy	Associate	15230697, 24906965
Epileptic Syndromes	Associate	21094210
Erythema Ab Igne	Associate	12706835
Fahr's disease	Associate	37341843
Frontotemporal Dementia	Associate	19001354, 19012865, 19494431, 21971039, 22503161, 23489366, 24880964, 30528349, 31914217, 32977230, 35752680
Frontotemporal Lobar Degeneration	Associate	35260199
Gait Disorders Neurologic	Associate	22460587, 37958671
Genetic Diseases Inborn	Associate	20452985, 22503161
Glioma	Associate	19688792
Headache	Associate	22460587
Heart Failure	Associate	17186461
Hippocampal Sclerosis	Associate	15230697
Hypersensitivity Immediate	Associate	27888801
Hypoxia	Stimulate	12050157
Inclusion body myopathy autosomal recessive	Associate	9546349
Infections	Associate	34926703
Inflammation	Associate	12050157, 40542358
Language Disorders	Associate	30549411, 36555832
Lateral Medullary Syndrome	Associate	20164095
Learning Disabilities	Associate	30716424
Lesch Nyhan Syndrome	Associate	21305049
Leukoencephalopathies	Associate	27614114, 33188256
Lewy Body Disease	Associate	19001354, 27312774, 31165862, 34207526, 36114914, 36362122
limbic predominant age related TDP 43 encephalopathy	Associate	36314207
Macular Degeneration	Associate	24418614
Malformations of Cortical Development Group I	Stimulate	26025363
Malformations of Cortical Development Group I	Associate	31159590
Melanoma	Inhibit	35563300
Memory Disorders	Associate	18580586, 20164095, 21094210, 25352452, 28878053, 30200536, 34207526
Mental Disorders	Associate	24906965, 30716424, 33264156, 34207526, 37895139
Mesothelioma Malignant	Associate	25902174
Metabolic Diseases	Associate	35976206
Mitochondrial Diseases	Associate	21678067, 31159590, 31203573, 37895139
Mitochondrial Phosphate Carrier Deficiency	Associate	33476461
Motor Neuron Disease	Associate	32106535
Movement Disorders	Associate	32103039
Multiple Pterygium Syndrome Autosomal Dominant	Associate	31686034
Multiple Sclerosis	Associate	34193504
Multiple System Atrophy	Associate	32493431
Muscle Neoplasms	Associate	9546349
Muscle Spasticity	Associate	18580586, 22503161, 25812849
Myoclonus	Associate	19001354, 22460587, 9436726
Myositis Inclusion Body	Associate	9546349
Neoplasms	Associate	16126725, 24223915, 36059511, 39215239
Nerve Degeneration	Associate	10644793, 12050157, 15230697, 18580586, 23380992, 36572121
Neurobehavioral Manifestations	Associate	27793474, 33180114
Neurodegenerative Diseases	Associate	22489754, 27785004, 33383341, 34586830
Neuroinflammatory Diseases	Associate	36314207
Neurologic Manifestations	Associate	23137948, 24121961
Neuronal Ceroid Lipofuscinoses	Associate	24121961
Neurotoxicity Syndromes	Associate	9602117
Night blindness congenital stationary	Associate	27641902
Opitz GBBB Syndrome X Linked	Associate	40363838
Ovarian Neoplasms	Associate	12758175, 33921111
Pallidopyramidal syndrome	Associate	34207526
Paraparesis Spastic	Associate	18580586, 19494431, 19797784, 27614114, 30567237, 35365805
Paresis	Associate	30567237
Parkinson Disease	Associate	25174650, 25808939, 34207526, 40363838
Parkinson Disease Secondary	Associate	28764909, 36114914
Persistent Vegetative State	Associate	35695802
Personality Disorders	Inhibit	35563300
Plaque Amyloid	Associate	10644793, 17553989, 27614114, 34252876, 37895139, 9250173
Pre Eclampsia	Associate	25031267
Primary Progressive Nonfluent Aphasia	Associate	23579325
Prosopagnosia	Associate	28764909
Proteostasis Deficiencies	Associate	36314207
Pseudobulbar Palsy	Associate	22460587
Psychological Distress	Associate	25034304
Psychotic Disorders	Associate	9436726
REM Sleep Behavior Disorder	Associate	30716424
Seizures	Associate	15230697, 18580586, 19001354, 22503161
Signs and Symptoms	Associate	19001354
Sleep Deprivation	Associate	32437347
Spastic Paraplegia Hereditary	Associate	24906965
Speech Disorders	Associate	25812849
Spheroid body myopathy	Associate	37553376
Squamous Cell Carcinoma of Head and Neck	Stimulate	27349552
Squamous Cell Carcinoma of Head and Neck	Associate	31944856, 39215239
Stroke	Associate	23137948
Teratoma	Associate	35421846
Thyroid Cancer Papillary	Associate	34767591
Tooth Loss	Associate	23380992
Triple Negative Breast Neoplasms	Associate	27888801
Urinary Bladder Neoplasms	Associate	25542424
Urinary Incontinence	Associate	19001354
Urologic Neoplasms	Associate	26397152
Uterine Cervical Neoplasms	Associate	27581326
Vertigo	Associate	28878053
Voice Disorders	Associate	11796781