GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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AGRN (agrin)

Gene

375790

Agrin

AGRN

AGRIN, CMS8, CMSPPD

1p36.33

This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epiderm

Show/Hide all(27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113020870	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs116836855	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs141603403	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs143324306	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs145444272	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs146243145	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs199476396	G>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs201073369	G>A,C	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs536657086	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs544749044	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs587777298	G>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777299	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs750176911	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs756623659	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs763818876	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs764160563	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs779170859	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs879253787	A>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs879253788	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1239736447	C>G,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs1553178276	->T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557700705	GCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1557721600	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1570190059	->CGGGC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570193864	GCGCCTGCGCC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570195582	->CCCG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570242061	CGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT>-	Likely-pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant

Show/Hide all(343)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001391	hsa-miR-1-3p	pSILAC	18668040
MIRT020958	hsa-miR-155-5p	Proteomics	17881434
MIRT001391	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT031889	hsa-miR-16-5p	Proteomics	18668040
MIRT499104	hsa-miR-4323	PAR-CLIP	24398324
MIRT499103	hsa-miR-500b-3p	PAR-CLIP	24398324
MIRT499101	hsa-miR-4758-3p	PAR-CLIP	24398324
MIRT499102	hsa-miR-4632-3p	PAR-CLIP	24398324
MIRT499104	hsa-miR-4323	PAR-CLIP	24398324
MIRT499103	hsa-miR-500b-3p	PAR-CLIP	24398324
MIRT499101	hsa-miR-4758-3p	PAR-CLIP	24398324
MIRT499102	hsa-miR-4632-3p	PAR-CLIP	24398324
MIRT773003	hsa-miR-105	CLIP-seq
MIRT773004	hsa-miR-1197	CLIP-seq
MIRT773005	hsa-miR-1207-5p	CLIP-seq
MIRT773006	hsa-miR-1266	CLIP-seq
MIRT773007	hsa-miR-1273f	CLIP-seq
MIRT773008	hsa-miR-128	CLIP-seq
MIRT773009	hsa-miR-1280	CLIP-seq
MIRT773010	hsa-miR-1285	CLIP-seq
MIRT773011	hsa-miR-144	CLIP-seq
MIRT773012	hsa-miR-1827	CLIP-seq
MIRT773013	hsa-miR-188-3p	CLIP-seq
MIRT773014	hsa-miR-1912	CLIP-seq
MIRT773015	hsa-miR-214	CLIP-seq
MIRT773016	hsa-miR-224	CLIP-seq
MIRT773017	hsa-miR-2277-5p	CLIP-seq
MIRT773018	hsa-miR-27a	CLIP-seq
MIRT773019	hsa-miR-27b	CLIP-seq
MIRT773020	hsa-miR-28-3p	CLIP-seq
MIRT773021	hsa-miR-296-5p	CLIP-seq
MIRT773022	hsa-miR-31	CLIP-seq
MIRT773023	hsa-miR-3121-3p	CLIP-seq
MIRT773024	hsa-miR-3143	CLIP-seq
MIRT773025	hsa-miR-3150a-3p	CLIP-seq
MIRT773026	hsa-miR-3153	CLIP-seq
MIRT773027	hsa-miR-3163	CLIP-seq
MIRT773028	hsa-miR-3175	CLIP-seq
MIRT773029	hsa-miR-3176	CLIP-seq
MIRT773030	hsa-miR-3178	CLIP-seq
MIRT773031	hsa-miR-3183	CLIP-seq
MIRT773032	hsa-miR-3185	CLIP-seq
MIRT773033	hsa-miR-3187-5p	CLIP-seq
MIRT773034	hsa-miR-3189-5p	CLIP-seq
MIRT773035	hsa-miR-3202	CLIP-seq
MIRT773036	hsa-miR-331-3p	CLIP-seq
MIRT773037	hsa-miR-3613-3p	CLIP-seq
MIRT773038	hsa-miR-3619-5p	CLIP-seq
MIRT773039	hsa-miR-3652	CLIP-seq
MIRT773040	hsa-miR-3664-3p	CLIP-seq
MIRT773041	hsa-miR-3670	CLIP-seq
MIRT773042	hsa-miR-3671	CLIP-seq
MIRT773043	hsa-miR-3918	CLIP-seq
MIRT773044	hsa-miR-3922-3p	CLIP-seq
MIRT773045	hsa-miR-3937	CLIP-seq
MIRT773046	hsa-miR-3978	CLIP-seq
MIRT773047	hsa-miR-4251	CLIP-seq
MIRT773048	hsa-miR-4268	CLIP-seq
MIRT773049	hsa-miR-4269	CLIP-seq
MIRT773050	hsa-miR-4283	CLIP-seq
MIRT773051	hsa-miR-4291	CLIP-seq
MIRT773052	hsa-miR-4299	CLIP-seq
MIRT773053	hsa-miR-4303	CLIP-seq
MIRT773054	hsa-miR-4316	CLIP-seq
MIRT773055	hsa-miR-4329	CLIP-seq
MIRT773056	hsa-miR-4430	CLIP-seq
MIRT773057	hsa-miR-4435	CLIP-seq
MIRT773058	hsa-miR-4436a	CLIP-seq
MIRT773059	hsa-miR-4448	CLIP-seq
MIRT773060	hsa-miR-4456	CLIP-seq
MIRT773061	hsa-miR-4459	CLIP-seq
MIRT773062	hsa-miR-4476	CLIP-seq
MIRT773063	hsa-miR-4488	CLIP-seq
MIRT773064	hsa-miR-4489	CLIP-seq
MIRT773065	hsa-miR-4492	CLIP-seq
MIRT773066	hsa-miR-4498	CLIP-seq
MIRT773067	hsa-miR-4505	CLIP-seq
MIRT773068	hsa-miR-4508	CLIP-seq
MIRT773069	hsa-miR-4514	CLIP-seq
MIRT773070	hsa-miR-4518	CLIP-seq
MIRT773071	hsa-miR-4530	CLIP-seq
MIRT773072	hsa-miR-4533	CLIP-seq
MIRT773073	hsa-miR-4632	CLIP-seq
MIRT773074	hsa-miR-4640-5p	CLIP-seq
MIRT773075	hsa-miR-4643	CLIP-seq
MIRT773076	hsa-miR-4660	CLIP-seq
MIRT773077	hsa-miR-4668-3p	CLIP-seq
MIRT773078	hsa-miR-4668-5p	CLIP-seq
MIRT773079	hsa-miR-4685-5p	CLIP-seq
MIRT773080	hsa-miR-4687-5p	CLIP-seq
MIRT773081	hsa-miR-4692	CLIP-seq
MIRT773082	hsa-miR-4695-5p	CLIP-seq
MIRT773083	hsa-miR-4697-5p	CLIP-seq
MIRT773084	hsa-miR-4722-5p	CLIP-seq
MIRT773085	hsa-miR-4723-3p	CLIP-seq
MIRT773086	hsa-miR-4726-5p	CLIP-seq
MIRT773087	hsa-miR-4742-5p	CLIP-seq
MIRT773088	hsa-miR-4755-3p	CLIP-seq
MIRT773089	hsa-miR-4757-5p	CLIP-seq
MIRT773090	hsa-miR-4763-3p	CLIP-seq
MIRT773091	hsa-miR-4767	CLIP-seq
MIRT773092	hsa-miR-4786-5p	CLIP-seq
MIRT773093	hsa-miR-494	CLIP-seq
MIRT773094	hsa-miR-508-5p	CLIP-seq
MIRT773095	hsa-miR-510	CLIP-seq
MIRT773096	hsa-miR-514	CLIP-seq
MIRT773097	hsa-miR-514b-3p	CLIP-seq
MIRT773098	hsa-miR-520d-5p	CLIP-seq
MIRT773099	hsa-miR-524-5p	CLIP-seq
MIRT773100	hsa-miR-543	CLIP-seq
MIRT773101	hsa-miR-548q	CLIP-seq
MIRT773102	hsa-miR-612	CLIP-seq
MIRT773103	hsa-miR-642b	CLIP-seq
MIRT773104	hsa-miR-646	CLIP-seq
MIRT773105	hsa-miR-661	CLIP-seq
MIRT773106	hsa-miR-744	CLIP-seq
MIRT773107	hsa-miR-760	CLIP-seq
MIRT773108	hsa-miR-761	CLIP-seq
MIRT773109	hsa-miR-762	CLIP-seq
MIRT773110	hsa-miR-767-3p	CLIP-seq
MIRT773111	hsa-miR-769-5p	CLIP-seq
MIRT773112	hsa-miR-802	CLIP-seq
MIRT773113	hsa-miR-922	CLIP-seq
MIRT773114	hsa-miR-939	CLIP-seq
MIRT773115	hsa-miR-940	CLIP-seq
MIRT773082	hsa-miR-4695-5p	CLIP-seq
MIRT773012	hsa-miR-1827	CLIP-seq
MIRT1555903	hsa-miR-24	CLIP-seq
MIRT1555904	hsa-miR-3065-3p	CLIP-seq
MIRT773050	hsa-miR-4283	CLIP-seq
MIRT1555905	hsa-miR-4437	CLIP-seq
MIRT773004	hsa-miR-1197	CLIP-seq
MIRT773005	hsa-miR-1207-5p	CLIP-seq
MIRT773006	hsa-miR-1266	CLIP-seq
MIRT773007	hsa-miR-1273f	CLIP-seq
MIRT773008	hsa-miR-128	CLIP-seq
MIRT773009	hsa-miR-1280	CLIP-seq
MIRT773010	hsa-miR-1285	CLIP-seq
MIRT1928202	hsa-miR-1321	CLIP-seq
MIRT773011	hsa-miR-144	CLIP-seq
MIRT773012	hsa-miR-1827	CLIP-seq
MIRT773013	hsa-miR-188-3p	CLIP-seq
MIRT773014	hsa-miR-1912	CLIP-seq
MIRT1928203	hsa-miR-1913	CLIP-seq
MIRT1928204	hsa-miR-192	CLIP-seq
MIRT1928205	hsa-miR-215	CLIP-seq
MIRT773016	hsa-miR-224	CLIP-seq
MIRT773018	hsa-miR-27a	CLIP-seq
MIRT773019	hsa-miR-27b	CLIP-seq
MIRT773020	hsa-miR-28-3p	CLIP-seq
MIRT773022	hsa-miR-31	CLIP-seq
MIRT1928206	hsa-miR-3130-3p	CLIP-seq
MIRT1928207	hsa-miR-3130-5p	CLIP-seq
MIRT773025	hsa-miR-3150a-3p	CLIP-seq
MIRT1928208	hsa-miR-3151	CLIP-seq
MIRT773028	hsa-miR-3175	CLIP-seq
MIRT773031	hsa-miR-3183	CLIP-seq
MIRT773032	hsa-miR-3185	CLIP-seq
MIRT773033	hsa-miR-3187-5p	CLIP-seq
MIRT773035	hsa-miR-3202	CLIP-seq
MIRT1928209	hsa-miR-324-3p	CLIP-seq
MIRT773039	hsa-miR-3652	CLIP-seq
MIRT773040	hsa-miR-3664-3p	CLIP-seq
MIRT773041	hsa-miR-3670	CLIP-seq
MIRT1928210	hsa-miR-370	CLIP-seq
MIRT773043	hsa-miR-3918	CLIP-seq
MIRT773045	hsa-miR-3937	CLIP-seq
MIRT773048	hsa-miR-4268	CLIP-seq
MIRT773049	hsa-miR-4269	CLIP-seq
MIRT773050	hsa-miR-4283	CLIP-seq
MIRT773054	hsa-miR-4316	CLIP-seq
MIRT773056	hsa-miR-4430	CLIP-seq
MIRT773057	hsa-miR-4435	CLIP-seq
MIRT773058	hsa-miR-4436a	CLIP-seq
MIRT1928211	hsa-miR-4447	CLIP-seq
MIRT773059	hsa-miR-4448	CLIP-seq
MIRT773061	hsa-miR-4459	CLIP-seq
MIRT1928212	hsa-miR-4472	CLIP-seq
MIRT1928213	hsa-miR-4482	CLIP-seq
MIRT773064	hsa-miR-4489	CLIP-seq
MIRT773065	hsa-miR-4492	CLIP-seq
MIRT773066	hsa-miR-4498	CLIP-seq
MIRT773067	hsa-miR-4505	CLIP-seq
MIRT773069	hsa-miR-4514	CLIP-seq
MIRT773070	hsa-miR-4518	CLIP-seq
MIRT773071	hsa-miR-4530	CLIP-seq
MIRT773073	hsa-miR-4632	CLIP-seq
MIRT773074	hsa-miR-4640-5p	CLIP-seq
MIRT773075	hsa-miR-4643	CLIP-seq
MIRT1928214	hsa-miR-4651	CLIP-seq
MIRT773077	hsa-miR-4668-3p	CLIP-seq
MIRT773079	hsa-miR-4685-5p	CLIP-seq
MIRT773080	hsa-miR-4687-5p	CLIP-seq
MIRT773081	hsa-miR-4692	CLIP-seq
MIRT773082	hsa-miR-4695-5p	CLIP-seq
MIRT773084	hsa-miR-4722-5p	CLIP-seq
MIRT773085	hsa-miR-4723-3p	CLIP-seq
MIRT773086	hsa-miR-4726-5p	CLIP-seq
MIRT1928215	hsa-miR-4739	CLIP-seq
MIRT773087	hsa-miR-4742-5p	CLIP-seq
MIRT1928216	hsa-miR-4749-3p	CLIP-seq
MIRT773088	hsa-miR-4755-3p	CLIP-seq
MIRT1928217	hsa-miR-4756-5p	CLIP-seq
MIRT773090	hsa-miR-4763-3p	CLIP-seq
MIRT1928218	hsa-miR-4780	CLIP-seq
MIRT1928219	hsa-miR-4793-3p	CLIP-seq
MIRT1928220	hsa-miR-491-5p	CLIP-seq
MIRT773093	hsa-miR-494	CLIP-seq
MIRT773095	hsa-miR-510	CLIP-seq
MIRT1928221	hsa-miR-608	CLIP-seq
MIRT773102	hsa-miR-612	CLIP-seq
MIRT773103	hsa-miR-642b	CLIP-seq
MIRT773109	hsa-miR-762	CLIP-seq
MIRT773112	hsa-miR-802	CLIP-seq
MIRT773114	hsa-miR-939	CLIP-seq
MIRT773115	hsa-miR-940	CLIP-seq
MIRT773003	hsa-miR-105	CLIP-seq
MIRT773004	hsa-miR-1197	CLIP-seq
MIRT773005	hsa-miR-1207-5p	CLIP-seq
MIRT773008	hsa-miR-128	CLIP-seq
MIRT773009	hsa-miR-1280	CLIP-seq
MIRT773010	hsa-miR-1285	CLIP-seq
MIRT773011	hsa-miR-144	CLIP-seq
MIRT2168943	hsa-miR-1470	CLIP-seq
MIRT773012	hsa-miR-1827	CLIP-seq
MIRT773014	hsa-miR-1912	CLIP-seq
MIRT2168944	hsa-miR-2114	CLIP-seq
MIRT773015	hsa-miR-214	CLIP-seq
MIRT773016	hsa-miR-224	CLIP-seq
MIRT773018	hsa-miR-27a	CLIP-seq
MIRT773019	hsa-miR-27b	CLIP-seq
MIRT773020	hsa-miR-28-3p	CLIP-seq
MIRT773022	hsa-miR-31	CLIP-seq
MIRT2168945	hsa-miR-3127-3p	CLIP-seq
MIRT773024	hsa-miR-3143	CLIP-seq
MIRT773031	hsa-miR-3183	CLIP-seq
MIRT773032	hsa-miR-3185	CLIP-seq
MIRT773033	hsa-miR-3187-5p	CLIP-seq
MIRT773035	hsa-miR-3202	CLIP-seq
MIRT773038	hsa-miR-3619-5p	CLIP-seq
MIRT773039	hsa-miR-3652	CLIP-seq
MIRT2168946	hsa-miR-3667-3p	CLIP-seq
MIRT773043	hsa-miR-3918	CLIP-seq
MIRT773049	hsa-miR-4269	CLIP-seq
MIRT2168947	hsa-miR-4274	CLIP-seq
MIRT773050	hsa-miR-4283	CLIP-seq
MIRT773051	hsa-miR-4291	CLIP-seq
MIRT773056	hsa-miR-4430	CLIP-seq
MIRT773058	hsa-miR-4436a	CLIP-seq
MIRT773061	hsa-miR-4459	CLIP-seq
MIRT773062	hsa-miR-4476	CLIP-seq
MIRT773064	hsa-miR-4489	CLIP-seq
MIRT773065	hsa-miR-4492	CLIP-seq
MIRT773066	hsa-miR-4498	CLIP-seq
MIRT773067	hsa-miR-4505	CLIP-seq
MIRT773069	hsa-miR-4514	CLIP-seq
MIRT773071	hsa-miR-4530	CLIP-seq
MIRT773072	hsa-miR-4533	CLIP-seq
MIRT773073	hsa-miR-4632	CLIP-seq
MIRT773074	hsa-miR-4640-5p	CLIP-seq
MIRT773075	hsa-miR-4643	CLIP-seq
MIRT773076	hsa-miR-4660	CLIP-seq
MIRT2168948	hsa-miR-4667-3p	CLIP-seq
MIRT773077	hsa-miR-4668-3p	CLIP-seq
MIRT773079	hsa-miR-4685-5p	CLIP-seq
MIRT773081	hsa-miR-4692	CLIP-seq
MIRT773082	hsa-miR-4695-5p	CLIP-seq
MIRT773084	hsa-miR-4722-5p	CLIP-seq
MIRT773085	hsa-miR-4723-3p	CLIP-seq
MIRT773086	hsa-miR-4726-5p	CLIP-seq
MIRT773087	hsa-miR-4742-5p	CLIP-seq
MIRT773090	hsa-miR-4763-3p	CLIP-seq
MIRT773093	hsa-miR-494	CLIP-seq
MIRT773095	hsa-miR-510	CLIP-seq
MIRT773096	hsa-miR-514	CLIP-seq
MIRT773097	hsa-miR-514b-3p	CLIP-seq
MIRT773100	hsa-miR-543	CLIP-seq
MIRT773102	hsa-miR-612	CLIP-seq
MIRT773103	hsa-miR-642b	CLIP-seq
MIRT773104	hsa-miR-646	CLIP-seq
MIRT773108	hsa-miR-761	CLIP-seq
MIRT773109	hsa-miR-762	CLIP-seq
MIRT773112	hsa-miR-802	CLIP-seq
MIRT773113	hsa-miR-922	CLIP-seq
MIRT773115	hsa-miR-940	CLIP-seq
MIRT773007	hsa-miR-1273f	CLIP-seq
MIRT773009	hsa-miR-1280	CLIP-seq
MIRT773012	hsa-miR-1827	CLIP-seq
MIRT2384013	hsa-miR-1908	CLIP-seq
MIRT1928203	hsa-miR-1913	CLIP-seq
MIRT1928204	hsa-miR-192	CLIP-seq
MIRT2384014	hsa-miR-2115	CLIP-seq
MIRT1928205	hsa-miR-215	CLIP-seq
MIRT1928206	hsa-miR-3130-3p	CLIP-seq
MIRT773025	hsa-miR-3150a-3p	CLIP-seq
MIRT1928208	hsa-miR-3151	CLIP-seq
MIRT773028	hsa-miR-3175	CLIP-seq
MIRT1928209	hsa-miR-324-3p	CLIP-seq
MIRT773045	hsa-miR-3937	CLIP-seq
MIRT773054	hsa-miR-4316	CLIP-seq
MIRT773069	hsa-miR-4514	CLIP-seq
MIRT773073	hsa-miR-4632	CLIP-seq
MIRT773081	hsa-miR-4692	CLIP-seq
MIRT2384015	hsa-miR-4706	CLIP-seq
MIRT1928216	hsa-miR-4749-3p	CLIP-seq
MIRT2384016	hsa-miR-4749-5p	CLIP-seq
MIRT1928218	hsa-miR-4780	CLIP-seq
MIRT1928219	hsa-miR-4793-3p	CLIP-seq
MIRT1928220	hsa-miR-491-5p	CLIP-seq
MIRT773093	hsa-miR-494	CLIP-seq
MIRT2384017	hsa-miR-516a-3p	CLIP-seq
MIRT773103	hsa-miR-642b	CLIP-seq
MIRT2384018	hsa-miR-663	CLIP-seq
MIRT773112	hsa-miR-802	CLIP-seq
MIRT773114	hsa-miR-939	CLIP-seq
MIRT773009	hsa-miR-1280	CLIP-seq
MIRT773020	hsa-miR-28-3p	CLIP-seq
MIRT1928210	hsa-miR-370	CLIP-seq
MIRT773048	hsa-miR-4268	CLIP-seq
MIRT773059	hsa-miR-4448	CLIP-seq
MIRT773073	hsa-miR-4632	CLIP-seq
MIRT773093	hsa-miR-494	CLIP-seq
MIRT773103	hsa-miR-642b	CLIP-seq
MIRT773112	hsa-miR-802	CLIP-seq
MIRT2384013	hsa-miR-1908	CLIP-seq
MIRT2384014	hsa-miR-2115	CLIP-seq
MIRT773025	hsa-miR-3150a-3p	CLIP-seq
MIRT1928208	hsa-miR-3151	CLIP-seq
MIRT773028	hsa-miR-3175	CLIP-seq
MIRT1928211	hsa-miR-4447	CLIP-seq
MIRT1928212	hsa-miR-4472	CLIP-seq
MIRT2384015	hsa-miR-4706	CLIP-seq
MIRT2384016	hsa-miR-4749-5p	CLIP-seq
MIRT1928220	hsa-miR-491-5p	CLIP-seq
MIRT2384017	hsa-miR-516a-3p	CLIP-seq
MIRT2384018	hsa-miR-663	CLIP-seq
MIRT773114	hsa-miR-939	CLIP-seq
MIRT2384013	hsa-miR-1908	CLIP-seq
MIRT2384014	hsa-miR-2115	CLIP-seq
MIRT2384015	hsa-miR-4706	CLIP-seq
MIRT2384016	hsa-miR-4749-5p	CLIP-seq
MIRT2384017	hsa-miR-516a-3p	CLIP-seq
MIRT2384018	hsa-miR-663	CLIP-seq

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0002162	Function	Dystroglycan binding	ISS
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9652404
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 27068509, 27559042, 28675934
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	9417121, 21078624
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	9405491
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006024	Process	Glycosaminoglycan biosynthetic process	TAS
GO:0006027	Process	Glycosaminoglycan catabolic process	TAS
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007165	Process	Signal transduction	TAS	9652404
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	TAS	9405491
GO:0007528	Process	Neuromuscular junction development	IBA	21873635
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0009888	Process	Tissue development	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0033691	Function	Sialic acid binding	ISS
GO:0035374	Function	Chondroitin sulfate binding	ISS
GO:0043113	Process	Receptor clustering	IBA	21873635
GO:0043113	Process	Receptor clustering	IDA	15340048
GO:0043113	Process	Receptor clustering	IMP	9151673
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043236	Function	Laminin binding	TAS	9652404
GO:0043395	Function	Heparan sulfate proteoglycan binding	ISS
GO:0043547	Process	Positive regulation of GTPase activity	ISS
GO:0045162	Process	Clustering of voltage-gated sodium channels	TAS	9405491
GO:0045202	Component	Synapse	ISS
GO:0045887	Process	Positive regulation of synaptic growth at neuromuscular junction	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0050808	Process	Synapse organization	TAS	9652404
GO:0051491	Process	Positive regulation of filopodium assembly	ISS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023, 27068509, 27559042, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	IDA	17628813
GO:0062023	Component	Collagen-containing extracellular matrix	TAS	22261194
GO:0070062	Component	Extracellular exosome	HDA	19199708, 20458337, 23533145

MIM	HGNC	e!Ensembl
103320	329	ENSG00000188157

Protein

UniProt ID

O00468

Protein name

Agrin [Cleaved into: Agrin N-terminal 110 kDa subunit; Agrin C-terminal 110 kDa subunit; Agrin C-terminal 90 kDa fragment (C90); Agrin C-terminal 22 kDa fragment (C22)]

Protein function

[Isoform 1]: Heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component of the AGRN-LRP4 receptor

PDB

8S9P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03146	NtA	31 → 146	Agrin NtA domain	Domain
PF07648	Kazal_2	197 → 242	Kazal-type serine protease inhibitor domain	Domain
PF07648	Kazal_2	270 → 317	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	335 → 389	Kazal-type serine protease inhibitor domain	Domain
PF07648	Kazal_2	411 → 461	Kazal-type serine protease inhibitor domain	Domain
PF07648	Kazal_2	489 → 534	Kazal-type serine protease inhibitor domain	Domain
PF07648	Kazal_2	552 → 599	Kazal-type serine protease inhibitor domain	Domain
PF07648	Kazal_2	616 → 669	Kazal-type serine protease inhibitor domain	Domain
PF07648	Kazal_2	704 → 750	Kazal-type serine protease inhibitor domain	Domain
PF00053	Laminin_EGF	793 → 844	Laminin EGF domain	Domain
PF00053	Laminin_EGF	847 → 901	Laminin EGF domain	Domain
PF07648	Kazal_2	923 → 969	Kazal-type serine protease inhibitor domain	Domain
PF01390	SEA	1132 → 1237	SEA domain	Family
PF00008	EGF	1333 → 1365	EGF-like domain	Domain
PF00054	Laminin_G_1	1400 → 1531	Laminin G domain	Domain
PF00008	EGF	1553 → 1584	EGF-like domain	Domain
PF00054	Laminin_G_1	1668 → 1803	Laminin G domain	Domain
PF00054	Laminin_G_1	1920 → 2051	Laminin G domain	Domain

Sequence

MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPV
QHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPA
PPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFG
AVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRG
PCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLR
RACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDD
GVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVT
CDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCA
VKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQC
RFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCE
TCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEAR
AGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGS
DGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITA
ARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDG
RSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPAT
CAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQ
ISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPP
SSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGG
GSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLEL
EGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSV
RAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGA
TSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPG
RRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGR
SFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGP
AVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPE
DQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHG
GAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGRE
GTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYN
GQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRV
GDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGR
QLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGL
VEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSL
RTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVA
HREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCL
RDVVVGRHPLHLLEDAVTKPELRPCPTP

Sequence length

2068

Interactions

View interactions

	KEGG		Reactome
	ECM-receptor interaction Cytoskeleton in muscle cells		A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis HS-GAG degradation ECM proteoglycans Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective EXT2 causes exostoses 2 Defective EXT1 causes exostoses 1, TRPS2 and CHDS Defective B3GALT6 causes EDSP2 and SEMDJL1 Retinoid metabolism and transport

Associated diseases

Show/Hide Causal Diseases (9)

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Myasthenic syndrome	Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Congenital myasthenic syndrome ib, Presynaptic congenital myasthenic syndromes, Postsynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 8	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922, rs769982050, rs759911990, rs121908923, rs121908924, rs1384843815, rs104893735, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs104894294, rs121909254, rs121909255, rs879255561, rs121912821, rs75466054, rs121912822, rs199476396, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs121909502, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508, rs137852810, rs137852811, rs137852798, rs137852800, rs137852801, rs137852802, rs137852804, rs137852805, rs137852806, rs137852807, rs137852808, rs2105350984, rs374391312, rs201322234, rs1671535986, rs1574066341, rs1574058076, rs1574066599, rs387906803, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs377767449, rs193919341, rs398122830, rs397515450, rs587777298, rs587777299, rs587777781, rs730882050, rs730882123, rs730882051, rs786204773, rs786205885, rs794727884, rs761899995, rs797045040, rs797045528, rs200783529, rs551423795, rs756877019, rs864309662, rs864309663, rs756623659, rs773526895, rs763258280, rs762368691, rs1555794286, rs886037842, rs147656110, rs886039767, rs886039768, rs770045897, rs763281993, rs755236236, rs886043239, rs764497513, rs1057517666, rs370019023, rs769114543, rs922548333, rs139574075, rs767507908, rs759226183, rs1057523690, rs55868108, rs755303686, rs1085307792, rs775583136, rs376808313, rs1131691986, rs776927709, rs1279554995, rs1553850100, rs1156634884, rs1553390600, rs1349476281, rs1555546465, rs199875082, rs200761047, rs1553360075, rs971863968, rs369251527, rs372760913, rs1479498379, rs1555547003, rs1423995073, rs1555546315, rs1555546765, rs201033437, rs1430654625, rs1554943789, rs1316112168, rs781689096, rs1553354962, rs753545038, rs1011196447, rs1553389102, rs185829251, rs28929768, rs1555546096, rs932032926, rs1553846331, rs756015202, rs1555142142, rs1436090495, rs1553352792, rs145356495, rs770987150, rs768892432, rs1557700705, rs1172015222, rs1558749457, rs1361739547, rs775517492, rs1558773839, rs1559510978, rs771879602, rs777102590, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs781908532, rs1306593300, rs1559519107, rs199470447, rs1557721600, rs1558762013, rs746220436, rs1565527239, rs1565527137, rs1565527140, rs1567636493, rs1558761046, rs143766249, rs1447564693, rs757060689, rs1309292778, rs1575460231, rs1570193864, rs1570195582, rs1239736447, rs779488471, rs201947904, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1239393228, rs762875734, rs148092524, rs1269227357, rs1208462125, rs1597622118, rs1597749210, rs1570190059, rs1574007436, rs781974501, rs748639083, rs1597613479, rs1597621396, rs1570242061, rs149020371, rs1595903667, rs1597618787, rs1600807788, rs1579484850, rs1577153029, rs779816027, rs1598406692, rs1577153124, rs778172294, rs1590576560, rs753652169, rs1595902947, rs1369980189, rs762345055, rs1675812434, rs375268742, rs1671813157, rs759488854, rs761584017, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1908994498, rs1320610655, rs373710822	19631309, 22205389, 22205389, 19631309, 22205389, 19631309, 24951643, 19631309, 22205389, 24951643
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	17330099
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Myasthenia gravis	Myasthenias	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polyneuropathy	Polyneuropathy, Motor	rs1597597437

Show/Hide Unknown Diseases (17)

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Bulbar palsy	Bulbar palsy
Developmental dysplasia of the hip	Congenital Dysplasia Of The Hip
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Congenital pectus carinatum	Congenital pectus carinatum
Distal amyotrophy	Distal amyotrophy	rs1457770815
Dysphagia	Deglutition Disorders
Esotropia	Esotropia
Facial paralysis	Facial paralysis
Gastroesophageal reflux disease	Gastroesophageal reflux disease
High palate	Byzanthine arch palate
Motor delay	Clumsiness - motor delay
Myeloid leukemia	Acute Myeloid Leukemia, M1		17330099
Ptosis	Blepharoptosis, Ptosis	rs139920573
Respiratory failure	Respiratory Failure
Sleep apnea	Sleep Apnea, Obstructive, Sleep Apnea, Central
Sudden episodic apnea	Sudden episodic apnea

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