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CHMP1A (charged multivesicular body protein 1A)

Gene

5119

Charged multivesicular body protein 1A

CHMP1A

CHMP1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A

16q24.3

This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded prot

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114931496	G>A	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs200606123	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs201479143	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs397515426	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs398122918	C>A,T	Pathogenic	Intron variant
rs764358419	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs1064794609	C>A,G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, stop gained, coding sequence variant, missense variant

Show/Hide all(430)

miRTarBase ID	miRNA	Experiments	Reference
MIRT890440	hsa-miR-103a	CLIP-seq
MIRT890441	hsa-miR-107	CLIP-seq
MIRT890442	hsa-miR-1179	CLIP-seq
MIRT890443	hsa-miR-1200	CLIP-seq
MIRT890444	hsa-miR-1207-5p	CLIP-seq
MIRT890445	hsa-miR-1238	CLIP-seq
MIRT890446	hsa-miR-124	CLIP-seq
MIRT890447	hsa-miR-1257	CLIP-seq
MIRT890448	hsa-miR-1266	CLIP-seq
MIRT890449	hsa-miR-1269	CLIP-seq
MIRT890450	hsa-miR-1269b	CLIP-seq
MIRT890451	hsa-miR-1271	CLIP-seq
MIRT890452	hsa-miR-1285	CLIP-seq
MIRT890453	hsa-miR-1286	CLIP-seq
MIRT890454	hsa-miR-1288	CLIP-seq
MIRT890455	hsa-miR-1292	CLIP-seq
MIRT890456	hsa-miR-148a	CLIP-seq
MIRT890457	hsa-miR-148b	CLIP-seq
MIRT890458	hsa-miR-151-5p	CLIP-seq
MIRT890459	hsa-miR-151b	CLIP-seq
MIRT890460	hsa-miR-152	CLIP-seq
MIRT890461	hsa-miR-15a	CLIP-seq
MIRT890462	hsa-miR-15b	CLIP-seq
MIRT890463	hsa-miR-16	CLIP-seq
MIRT890464	hsa-miR-182	CLIP-seq
MIRT890465	hsa-miR-1908	CLIP-seq
MIRT890466	hsa-miR-195	CLIP-seq
MIRT890467	hsa-miR-1976	CLIP-seq
MIRT890468	hsa-miR-296-5p	CLIP-seq
MIRT890469	hsa-miR-3122	CLIP-seq
MIRT890470	hsa-miR-3126-5p	CLIP-seq
MIRT890471	hsa-miR-3131	CLIP-seq
MIRT890472	hsa-miR-3144-5p	CLIP-seq
MIRT890473	hsa-miR-3150b-3p	CLIP-seq
MIRT890474	hsa-miR-3155	CLIP-seq
MIRT890475	hsa-miR-3155b	CLIP-seq
MIRT890476	hsa-miR-3169	CLIP-seq
MIRT890477	hsa-miR-3180	CLIP-seq
MIRT890478	hsa-miR-3180-3p	CLIP-seq
MIRT890479	hsa-miR-3184	CLIP-seq
MIRT890480	hsa-miR-3187-5p	CLIP-seq
MIRT890481	hsa-miR-3196	CLIP-seq
MIRT890482	hsa-miR-339-5p	CLIP-seq
MIRT890483	hsa-miR-346	CLIP-seq
MIRT890484	hsa-miR-3529	CLIP-seq
MIRT890485	hsa-miR-3616-3p	CLIP-seq
MIRT890486	hsa-miR-3649	CLIP-seq
MIRT890487	hsa-miR-3670	CLIP-seq
MIRT890488	hsa-miR-371b-3p	CLIP-seq
MIRT890489	hsa-miR-379	CLIP-seq
MIRT890490	hsa-miR-3913-5p	CLIP-seq
MIRT890491	hsa-miR-3926	CLIP-seq
MIRT890492	hsa-miR-423-5p	CLIP-seq
MIRT890493	hsa-miR-424	CLIP-seq
MIRT890494	hsa-miR-4270	CLIP-seq
MIRT890495	hsa-miR-4279	CLIP-seq
MIRT890496	hsa-miR-4288	CLIP-seq
MIRT890497	hsa-miR-4310	CLIP-seq
MIRT890498	hsa-miR-4323	CLIP-seq
MIRT890499	hsa-miR-4324	CLIP-seq
MIRT890500	hsa-miR-4419a	CLIP-seq
MIRT890501	hsa-miR-4436b-3p	CLIP-seq
MIRT890502	hsa-miR-4438	CLIP-seq
MIRT890503	hsa-miR-4441	CLIP-seq
MIRT890504	hsa-miR-4451	CLIP-seq
MIRT890505	hsa-miR-4466	CLIP-seq
MIRT890506	hsa-miR-4471	CLIP-seq
MIRT890507	hsa-miR-4510	CLIP-seq
MIRT890508	hsa-miR-4514	CLIP-seq
MIRT890509	hsa-miR-4515	CLIP-seq
MIRT890510	hsa-miR-4518	CLIP-seq
MIRT890511	hsa-miR-4520a-3p	CLIP-seq
MIRT890512	hsa-miR-4648	CLIP-seq
MIRT890513	hsa-miR-4650-3p	CLIP-seq
MIRT890514	hsa-miR-4685-5p	CLIP-seq
MIRT890515	hsa-miR-4689	CLIP-seq
MIRT890516	hsa-miR-4690-3p	CLIP-seq
MIRT890517	hsa-miR-4692	CLIP-seq
MIRT890518	hsa-miR-4699-3p	CLIP-seq
MIRT890519	hsa-miR-4706	CLIP-seq
MIRT890520	hsa-miR-4707-3p	CLIP-seq
MIRT890521	hsa-miR-4709-3p	CLIP-seq
MIRT890522	hsa-miR-4713-3p	CLIP-seq
MIRT890523	hsa-miR-4717-3p	CLIP-seq
MIRT890524	hsa-miR-4722-3p	CLIP-seq
MIRT890525	hsa-miR-4728-5p	CLIP-seq
MIRT890526	hsa-miR-4736	CLIP-seq
MIRT890527	hsa-miR-4740-5p	CLIP-seq
MIRT890528	hsa-miR-4747-5p	CLIP-seq
MIRT890529	hsa-miR-4749-3p	CLIP-seq
MIRT890530	hsa-miR-4749-5p	CLIP-seq
MIRT890531	hsa-miR-4763-3p	CLIP-seq
MIRT890532	hsa-miR-4765	CLIP-seq
MIRT890533	hsa-miR-4779	CLIP-seq
MIRT890534	hsa-miR-4784	CLIP-seq
MIRT890535	hsa-miR-4790-3p	CLIP-seq
MIRT890536	hsa-miR-484	CLIP-seq
MIRT890537	hsa-miR-497	CLIP-seq
MIRT890538	hsa-miR-506	CLIP-seq
MIRT890539	hsa-miR-541	CLIP-seq
MIRT890540	hsa-miR-544b	CLIP-seq
MIRT890541	hsa-miR-548an	CLIP-seq
MIRT890542	hsa-miR-548s	CLIP-seq
MIRT890543	hsa-miR-611	CLIP-seq
MIRT890544	hsa-miR-612	CLIP-seq
MIRT890545	hsa-miR-632	CLIP-seq
MIRT890546	hsa-miR-642b	CLIP-seq
MIRT890547	hsa-miR-654-3p	CLIP-seq
MIRT890548	hsa-miR-654-5p	CLIP-seq
MIRT890549	hsa-miR-657	CLIP-seq
MIRT890550	hsa-miR-658	CLIP-seq
MIRT890551	hsa-miR-663	CLIP-seq
MIRT890552	hsa-miR-663b	CLIP-seq
MIRT890553	hsa-miR-675	CLIP-seq
MIRT890554	hsa-miR-96	CLIP-seq
MIRT890440	hsa-miR-103a	CLIP-seq
MIRT890441	hsa-miR-107	CLIP-seq
MIRT1963949	hsa-miR-1184	CLIP-seq
MIRT1963950	hsa-miR-1185	CLIP-seq
MIRT1963951	hsa-miR-1205	CLIP-seq
MIRT1963952	hsa-miR-1262	CLIP-seq
MIRT890448	hsa-miR-1266	CLIP-seq
MIRT890449	hsa-miR-1269	CLIP-seq
MIRT890450	hsa-miR-1269b	CLIP-seq
MIRT890451	hsa-miR-1271	CLIP-seq
MIRT890452	hsa-miR-1285	CLIP-seq
MIRT890454	hsa-miR-1288	CLIP-seq
MIRT1963953	hsa-miR-1293	CLIP-seq
MIRT1963954	hsa-miR-1587	CLIP-seq
MIRT890464	hsa-miR-182	CLIP-seq
MIRT1963955	hsa-miR-1909	CLIP-seq
MIRT890467	hsa-miR-1976	CLIP-seq
MIRT1963956	hsa-miR-2117	CLIP-seq
MIRT1963957	hsa-miR-296-3p	CLIP-seq
MIRT890468	hsa-miR-296-5p	CLIP-seq
MIRT890480	hsa-miR-3187-5p	CLIP-seq
MIRT1963958	hsa-miR-3200-5p	CLIP-seq
MIRT1963959	hsa-miR-3591-3p	CLIP-seq
MIRT1963960	hsa-miR-3605-5p	CLIP-seq
MIRT1963961	hsa-miR-361-3p	CLIP-seq
MIRT1963962	hsa-miR-3622a-3p	CLIP-seq
MIRT1963963	hsa-miR-3622b-3p	CLIP-seq
MIRT890486	hsa-miR-3649	CLIP-seq
MIRT1963964	hsa-miR-3678-3p	CLIP-seq
MIRT1963965	hsa-miR-3679-5p	CLIP-seq
MIRT1963966	hsa-miR-3691-5p	CLIP-seq
MIRT1963967	hsa-miR-3913-3p	CLIP-seq
MIRT1963968	hsa-miR-3918	CLIP-seq
MIRT890494	hsa-miR-4270	CLIP-seq
MIRT1963969	hsa-miR-4283	CLIP-seq
MIRT1963970	hsa-miR-4308	CLIP-seq
MIRT890497	hsa-miR-4310	CLIP-seq
MIRT890498	hsa-miR-4323	CLIP-seq
MIRT1963971	hsa-miR-4418	CLIP-seq
MIRT1963972	hsa-miR-4436a	CLIP-seq
MIRT890503	hsa-miR-4441	CLIP-seq
MIRT890505	hsa-miR-4466	CLIP-seq
MIRT1963973	hsa-miR-4483	CLIP-seq
MIRT1963974	hsa-miR-4491	CLIP-seq
MIRT890509	hsa-miR-4515	CLIP-seq
MIRT890510	hsa-miR-4518	CLIP-seq
MIRT890512	hsa-miR-4648	CLIP-seq
MIRT1963975	hsa-miR-4657	CLIP-seq
MIRT1963976	hsa-miR-4682	CLIP-seq
MIRT1963977	hsa-miR-4701-3p	CLIP-seq
MIRT890520	hsa-miR-4707-3p	CLIP-seq
MIRT890524	hsa-miR-4722-3p	CLIP-seq
MIRT1963978	hsa-miR-4733-3p	CLIP-seq
MIRT890527	hsa-miR-4740-5p	CLIP-seq
MIRT890528	hsa-miR-4747-5p	CLIP-seq
MIRT890529	hsa-miR-4749-3p	CLIP-seq
MIRT1963979	hsa-miR-4752	CLIP-seq
MIRT1963980	hsa-miR-4757-5p	CLIP-seq
MIRT890532	hsa-miR-4765	CLIP-seq
MIRT1963981	hsa-miR-4768-5p	CLIP-seq
MIRT1963982	hsa-miR-489	CLIP-seq
MIRT1963983	hsa-miR-509-3-5p	CLIP-seq
MIRT1963984	hsa-miR-509-5p	CLIP-seq
MIRT890539	hsa-miR-541	CLIP-seq
MIRT1963985	hsa-miR-548aa	CLIP-seq
MIRT890544	hsa-miR-612	CLIP-seq
MIRT890548	hsa-miR-654-5p	CLIP-seq
MIRT890550	hsa-miR-658	CLIP-seq
MIRT890553	hsa-miR-675	CLIP-seq
MIRT890554	hsa-miR-96	CLIP-seq
MIRT2200118	hsa-miR-1256	CLIP-seq
MIRT2200119	hsa-miR-1827	CLIP-seq
MIRT2200120	hsa-miR-205	CLIP-seq
MIRT890532	hsa-miR-4765	CLIP-seq
MIRT2200121	hsa-miR-520a-5p	CLIP-seq
MIRT2200122	hsa-miR-525-5p	CLIP-seq
MIRT2200123	hsa-miR-646	CLIP-seq
MIRT890440	hsa-miR-103a	CLIP-seq
MIRT890441	hsa-miR-107	CLIP-seq
MIRT1963949	hsa-miR-1184	CLIP-seq
MIRT890443	hsa-miR-1200	CLIP-seq
MIRT1963951	hsa-miR-1205	CLIP-seq
MIRT2502921	hsa-miR-1207-3p	CLIP-seq
MIRT890444	hsa-miR-1207-5p	CLIP-seq
MIRT2502922	hsa-miR-1224-3p	CLIP-seq
MIRT890445	hsa-miR-1238	CLIP-seq
MIRT1963952	hsa-miR-1262	CLIP-seq
MIRT890448	hsa-miR-1266	CLIP-seq
MIRT2502923	hsa-miR-128	CLIP-seq
MIRT2502924	hsa-miR-149	CLIP-seq
MIRT1963954	hsa-miR-1587	CLIP-seq
MIRT890461	hsa-miR-15a	CLIP-seq
MIRT890462	hsa-miR-15b	CLIP-seq
MIRT890463	hsa-miR-16	CLIP-seq
MIRT2200119	hsa-miR-1827	CLIP-seq
MIRT2502925	hsa-miR-1913	CLIP-seq
MIRT890466	hsa-miR-195	CLIP-seq
MIRT890467	hsa-miR-1976	CLIP-seq
MIRT2200120	hsa-miR-205	CLIP-seq
MIRT2502926	hsa-miR-2115	CLIP-seq
MIRT1963956	hsa-miR-2117	CLIP-seq
MIRT2502927	hsa-miR-22	CLIP-seq
MIRT2502928	hsa-miR-2467-3p	CLIP-seq
MIRT2502929	hsa-miR-28-5p	CLIP-seq
MIRT890468	hsa-miR-296-5p	CLIP-seq
MIRT2502930	hsa-miR-3064-5p	CLIP-seq
MIRT2502931	hsa-miR-3130-3p	CLIP-seq
MIRT2502932	hsa-miR-3136-3p	CLIP-seq
MIRT2502933	hsa-miR-3139	CLIP-seq
MIRT2502934	hsa-miR-3158-5p	CLIP-seq
MIRT2502935	hsa-miR-3166	CLIP-seq
MIRT2502936	hsa-miR-3189-3p	CLIP-seq
MIRT2502937	hsa-miR-3189-5p	CLIP-seq
MIRT2502938	hsa-miR-3194-3p	CLIP-seq
MIRT2502939	hsa-miR-320e	CLIP-seq
MIRT2502940	hsa-miR-324-3p	CLIP-seq
MIRT890483	hsa-miR-346	CLIP-seq
MIRT1963959	hsa-miR-3591-3p	CLIP-seq
MIRT1963961	hsa-miR-361-3p	CLIP-seq
MIRT890486	hsa-miR-3649	CLIP-seq
MIRT890487	hsa-miR-3670	CLIP-seq
MIRT1963964	hsa-miR-3678-3p	CLIP-seq
MIRT2502941	hsa-miR-3684	CLIP-seq
MIRT2502942	hsa-miR-376c	CLIP-seq
MIRT1963967	hsa-miR-3913-3p	CLIP-seq
MIRT1963968	hsa-miR-3918	CLIP-seq
MIRT2502943	hsa-miR-3925-3p	CLIP-seq
MIRT890493	hsa-miR-424	CLIP-seq
MIRT890494	hsa-miR-4270	CLIP-seq
MIRT2502944	hsa-miR-4287	CLIP-seq
MIRT890496	hsa-miR-4288	CLIP-seq
MIRT2502945	hsa-miR-4312	CLIP-seq
MIRT890498	hsa-miR-4323	CLIP-seq
MIRT890499	hsa-miR-4324	CLIP-seq
MIRT890503	hsa-miR-4441	CLIP-seq
MIRT890505	hsa-miR-4466	CLIP-seq
MIRT2502946	hsa-miR-4493	CLIP-seq
MIRT2502947	hsa-miR-4497	CLIP-seq
MIRT890508	hsa-miR-4514	CLIP-seq
MIRT890510	hsa-miR-4518	CLIP-seq
MIRT890511	hsa-miR-4520a-3p	CLIP-seq
MIRT2502948	hsa-miR-4522	CLIP-seq
MIRT2502949	hsa-miR-4640-3p	CLIP-seq
MIRT2502950	hsa-miR-4641	CLIP-seq
MIRT890512	hsa-miR-4648	CLIP-seq
MIRT2502951	hsa-miR-4674	CLIP-seq
MIRT2502952	hsa-miR-4685-3p	CLIP-seq
MIRT890514	hsa-miR-4685-5p	CLIP-seq
MIRT2502953	hsa-miR-4687-3p	CLIP-seq
MIRT890516	hsa-miR-4690-3p	CLIP-seq
MIRT890517	hsa-miR-4692	CLIP-seq
MIRT1963977	hsa-miR-4701-3p	CLIP-seq
MIRT890520	hsa-miR-4707-3p	CLIP-seq
MIRT890523	hsa-miR-4717-3p	CLIP-seq
MIRT890524	hsa-miR-4722-3p	CLIP-seq
MIRT2502954	hsa-miR-4731-5p	CLIP-seq
MIRT890526	hsa-miR-4736	CLIP-seq
MIRT890528	hsa-miR-4747-5p	CLIP-seq
MIRT890529	hsa-miR-4749-3p	CLIP-seq
MIRT2502955	hsa-miR-4758-3p	CLIP-seq
MIRT890531	hsa-miR-4763-3p	CLIP-seq
MIRT1963981	hsa-miR-4768-5p	CLIP-seq
MIRT2502956	hsa-miR-4771	CLIP-seq
MIRT2502957	hsa-miR-4789-3p	CLIP-seq
MIRT2502958	hsa-miR-4793-3p	CLIP-seq
MIRT2502959	hsa-miR-4794	CLIP-seq
MIRT1963982	hsa-miR-489	CLIP-seq
MIRT890537	hsa-miR-497	CLIP-seq
MIRT2502960	hsa-miR-512-3p	CLIP-seq
MIRT890539	hsa-miR-541	CLIP-seq
MIRT890540	hsa-miR-544b	CLIP-seq
MIRT2502961	hsa-miR-558	CLIP-seq
MIRT2502962	hsa-miR-589	CLIP-seq
MIRT890545	hsa-miR-632	CLIP-seq
MIRT2502963	hsa-miR-635	CLIP-seq
MIRT890546	hsa-miR-642b	CLIP-seq
MIRT890547	hsa-miR-654-3p	CLIP-seq
MIRT890548	hsa-miR-654-5p	CLIP-seq
MIRT890549	hsa-miR-657	CLIP-seq
MIRT890550	hsa-miR-658	CLIP-seq
MIRT890553	hsa-miR-675	CLIP-seq
MIRT2502964	hsa-miR-708	CLIP-seq
MIRT2502965	hsa-miR-760	CLIP-seq
MIRT2502966	hsa-miR-765	CLIP-seq
MIRT2502967	hsa-miR-766	CLIP-seq
MIRT890451	hsa-miR-1271	CLIP-seq
MIRT890464	hsa-miR-182	CLIP-seq
MIRT890554	hsa-miR-96	CLIP-seq
MIRT890440	hsa-miR-103a	CLIP-seq
MIRT890441	hsa-miR-107	CLIP-seq
MIRT1963949	hsa-miR-1184	CLIP-seq
MIRT890443	hsa-miR-1200	CLIP-seq
MIRT1963951	hsa-miR-1205	CLIP-seq
MIRT2502921	hsa-miR-1207-3p	CLIP-seq
MIRT890444	hsa-miR-1207-5p	CLIP-seq
MIRT2502922	hsa-miR-1224-3p	CLIP-seq
MIRT890445	hsa-miR-1238	CLIP-seq
MIRT2200118	hsa-miR-1256	CLIP-seq
MIRT1963952	hsa-miR-1262	CLIP-seq
MIRT890448	hsa-miR-1266	CLIP-seq
MIRT890451	hsa-miR-1271	CLIP-seq
MIRT2502923	hsa-miR-128	CLIP-seq
MIRT2678112	hsa-miR-138	CLIP-seq
MIRT2502924	hsa-miR-149	CLIP-seq
MIRT1963954	hsa-miR-1587	CLIP-seq
MIRT890461	hsa-miR-15a	CLIP-seq
MIRT890462	hsa-miR-15b	CLIP-seq
MIRT890463	hsa-miR-16	CLIP-seq
MIRT890464	hsa-miR-182	CLIP-seq
MIRT2200119	hsa-miR-1827	CLIP-seq
MIRT2502925	hsa-miR-1913	CLIP-seq
MIRT890466	hsa-miR-195	CLIP-seq
MIRT890467	hsa-miR-1976	CLIP-seq
MIRT2200120	hsa-miR-205	CLIP-seq
MIRT2502926	hsa-miR-2115	CLIP-seq
MIRT1963956	hsa-miR-2117	CLIP-seq
MIRT2502927	hsa-miR-22	CLIP-seq
MIRT2502928	hsa-miR-2467-3p	CLIP-seq
MIRT2502929	hsa-miR-28-5p	CLIP-seq
MIRT1963957	hsa-miR-296-3p	CLIP-seq
MIRT890468	hsa-miR-296-5p	CLIP-seq
MIRT2502930	hsa-miR-3064-5p	CLIP-seq
MIRT2502931	hsa-miR-3130-3p	CLIP-seq
MIRT2502932	hsa-miR-3136-3p	CLIP-seq
MIRT2502933	hsa-miR-3139	CLIP-seq
MIRT2502934	hsa-miR-3158-5p	CLIP-seq
MIRT2678113	hsa-miR-3165	CLIP-seq
MIRT2502935	hsa-miR-3166	CLIP-seq
MIRT2678114	hsa-miR-3170	CLIP-seq
MIRT2502936	hsa-miR-3189-3p	CLIP-seq
MIRT2502937	hsa-miR-3189-5p	CLIP-seq
MIRT2502938	hsa-miR-3194-3p	CLIP-seq
MIRT2502939	hsa-miR-320e	CLIP-seq
MIRT2502940	hsa-miR-324-3p	CLIP-seq
MIRT2678115	hsa-miR-342-5p	CLIP-seq
MIRT890483	hsa-miR-346	CLIP-seq
MIRT1963959	hsa-miR-3591-3p	CLIP-seq
MIRT1963961	hsa-miR-361-3p	CLIP-seq
MIRT890486	hsa-miR-3649	CLIP-seq
MIRT890487	hsa-miR-3670	CLIP-seq
MIRT1963964	hsa-miR-3678-3p	CLIP-seq
MIRT2502941	hsa-miR-3684	CLIP-seq
MIRT2678116	hsa-miR-370	CLIP-seq
MIRT2502942	hsa-miR-376c	CLIP-seq
MIRT2678117	hsa-miR-3910	CLIP-seq
MIRT1963967	hsa-miR-3913-3p	CLIP-seq
MIRT1963968	hsa-miR-3918	CLIP-seq
MIRT2502943	hsa-miR-3925-3p	CLIP-seq
MIRT890493	hsa-miR-424	CLIP-seq
MIRT890494	hsa-miR-4270	CLIP-seq
MIRT2502944	hsa-miR-4287	CLIP-seq
MIRT890496	hsa-miR-4288	CLIP-seq
MIRT2502945	hsa-miR-4312	CLIP-seq
MIRT890498	hsa-miR-4323	CLIP-seq
MIRT890499	hsa-miR-4324	CLIP-seq
MIRT890503	hsa-miR-4441	CLIP-seq
MIRT2678118	hsa-miR-4455	CLIP-seq
MIRT2678119	hsa-miR-4456	CLIP-seq
MIRT890505	hsa-miR-4466	CLIP-seq
MIRT2502946	hsa-miR-4493	CLIP-seq
MIRT2502947	hsa-miR-4497	CLIP-seq
MIRT890508	hsa-miR-4514	CLIP-seq
MIRT890510	hsa-miR-4518	CLIP-seq
MIRT890511	hsa-miR-4520a-3p	CLIP-seq
MIRT2502948	hsa-miR-4522	CLIP-seq
MIRT2502949	hsa-miR-4640-3p	CLIP-seq
MIRT2502950	hsa-miR-4641	CLIP-seq
MIRT2678120	hsa-miR-4646-5p	CLIP-seq
MIRT890512	hsa-miR-4648	CLIP-seq
MIRT2678121	hsa-miR-4651	CLIP-seq
MIRT2678122	hsa-miR-4664-5p	CLIP-seq
MIRT2502951	hsa-miR-4674	CLIP-seq
MIRT2502952	hsa-miR-4685-3p	CLIP-seq
MIRT890514	hsa-miR-4685-5p	CLIP-seq
MIRT2502953	hsa-miR-4687-3p	CLIP-seq
MIRT890516	hsa-miR-4690-3p	CLIP-seq
MIRT890517	hsa-miR-4692	CLIP-seq
MIRT1963977	hsa-miR-4701-3p	CLIP-seq
MIRT890520	hsa-miR-4707-3p	CLIP-seq
MIRT890523	hsa-miR-4717-3p	CLIP-seq
MIRT890524	hsa-miR-4722-3p	CLIP-seq
MIRT2502954	hsa-miR-4731-5p	CLIP-seq
MIRT1963978	hsa-miR-4733-3p	CLIP-seq
MIRT890526	hsa-miR-4736	CLIP-seq
MIRT890528	hsa-miR-4747-5p	CLIP-seq
MIRT890529	hsa-miR-4749-3p	CLIP-seq
MIRT2502955	hsa-miR-4758-3p	CLIP-seq
MIRT890531	hsa-miR-4763-3p	CLIP-seq
MIRT1963981	hsa-miR-4768-5p	CLIP-seq
MIRT2502956	hsa-miR-4771	CLIP-seq
MIRT2502957	hsa-miR-4789-3p	CLIP-seq
MIRT2502958	hsa-miR-4793-3p	CLIP-seq
MIRT2502959	hsa-miR-4794	CLIP-seq
MIRT1963982	hsa-miR-489	CLIP-seq
MIRT890537	hsa-miR-497	CLIP-seq
MIRT2502960	hsa-miR-512-3p	CLIP-seq
MIRT890539	hsa-miR-541	CLIP-seq
MIRT890540	hsa-miR-544b	CLIP-seq
MIRT2502961	hsa-miR-558	CLIP-seq
MIRT2502962	hsa-miR-589	CLIP-seq
MIRT2678123	hsa-miR-596	CLIP-seq
MIRT2678124	hsa-miR-608	CLIP-seq
MIRT890545	hsa-miR-632	CLIP-seq
MIRT2502963	hsa-miR-635	CLIP-seq
MIRT890546	hsa-miR-642b	CLIP-seq
MIRT890547	hsa-miR-654-3p	CLIP-seq
MIRT890548	hsa-miR-654-5p	CLIP-seq
MIRT890549	hsa-miR-657	CLIP-seq
MIRT890550	hsa-miR-658	CLIP-seq
MIRT890553	hsa-miR-675	CLIP-seq
MIRT2502964	hsa-miR-708	CLIP-seq
MIRT2502965	hsa-miR-760	CLIP-seq
MIRT2502966	hsa-miR-765	CLIP-seq
MIRT2502967	hsa-miR-766	CLIP-seq
MIRT890554	hsa-miR-96	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000794	Component	Condensed nuclear chromosome	IDA	11559747
GO:0000815	Component	ESCRT III complex	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11559748, 12445808, 14505570, 14519844, 16730941, 17711858, 19129479, 19129480, 19302785, 21988832, 23045692, 28514442, 32296183, 32814053
GO:0005769	Component	Early endosome	IDA	11559748
GO:0005771	Component	Multivesicular body	IBA	21873635
GO:0005815	Component	Microtubule organizing center	IDA	11559748
GO:0006508	Process	Proteolysis	IEA
GO:0006997	Process	Nucleus organization	IMP	20616062
GO:0007076	Process	Mitotic chromosome condensation	IDA	11559747
GO:0007080	Process	Mitotic metaphase plate congression	IMP	20616062
GO:0008237	Function	Metallopeptidase activity	TAS	8863740
GO:0008270	Function	Zinc ion binding	TAS	8863740
GO:0010824	Process	Regulation of centrosome duplication	IMP	20616062
GO:0012505	Component	Endomembrane system	IDA	11559748
GO:0015031	Process	Protein transport	IBA	21873635
GO:0016192	Process	Vesicle-mediated transport	IDA	11559748
GO:0016363	Component	Nuclear matrix	IDA	11559747
GO:0016458	Process	Gene silencing	IDA	11559747
GO:0019904	Function	Protein domain specific binding	IPI	17928862
GO:0032509	Process	Endosome transport via multivesicular body sorting pathway	IBA	21873635
GO:0036258	Process	Multivesicular body assembly	NAS	20588296
GO:0039702	Process	Viral budding via host ESCRT complex	NAS	20588296
GO:0042802	Function	Identical protein binding	IPI	16730941, 32296183
GO:0042803	Function	Protein homodimerization activity	IPI	14505570, 14519844
GO:0045324	Process	Late endosome to vacuole transport	IBA	21873635
GO:0045786	Process	Negative regulation of cell cycle	IMP	11559747
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	11559747
GO:0051301	Process	Cell division	IMP	19129479
GO:0061952	Process	Midbody abscission	IMP	20616062
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1901673	Process	Regulation of mitotic spindle assembly	IMP	20616062
GO:1904903	Process	ESCRT III complex disassembly	NAS	20588296

MIM	HGNC	e!Ensembl
164010	8740	ENSG00000131165

Protein

UniProt ID

Q9HD42

Protein name

Charged multivesicular body protein 1a (Chromatin-modifying protein 1a) (CHMP1a) (Vacuolar protein sorting-associated protein 46-1) (Vps46-1) (hVps46-1)

Protein function

Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intral

PDB

2JQ9 , 2YMB , 4A5X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03357	Snf7	4 → 174	Snf7	Family

Sequence

MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVECARVYAENAIRKKNEGV
NWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQ
NLDVHTSVMEDSMSSATTLTTPQEQVDSLIMQIAEENGLEVLDQLSQLPEGASAVGESSV
RSQEDQLSRRLAALRN

Sequence length

196

Interactions

View interactions

	KEGG		Reactome
	Virion - Hepatitis viruses Endocytosis Necroptosis		HCMV Late Events

Associated diseases

Show/Hide Causal Diseases (5)

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental 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
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
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	23023333, 11559747, 11559748
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Pontoneocerebellar hypoplasia	Pontocerebellar Hypoplasia Type 1, Pontocerebellar hypoplasia type 8, Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia type 8	rs63749985, rs113994152, rs113994153, rs113994154, rs113994150, rs137853063, rs267607036, rs267607035, rs886037629, rs147391618, rs141138948, rs672601331, rs387907196, rs672601332, rs397515426, rs398122918, rs587780333, rs374550999, rs587777391, rs587777392, rs587777393, rs587777394, rs587777395, rs587777465, rs587777466, rs587777616, rs606231285, rs587784476, rs886037738, rs886037739, rs730880294, rs886037740, rs730882145, rs746260871, rs796052019, rs371295780, rs772731615, rs797046052, rs797046051, rs756696262, rs797045567, rs797046057, rs797046054, rs797046055, rs863224183, rs199835443, rs863224182, rs863224186, rs757743894, rs772887102, rs774923951, rs875989844, rs879253779, rs879253780, rs776969714, rs886041639, rs886041316, rs1057518749, rs1057518750, rs1057518887, rs1057519294, rs1057519296, rs1553730885, rs1570621473, rs371848318, rs777030573, rs758153898, rs1064795060, rs777942571, rs1554203400, rs779282547, rs1553230375, rs765088174, rs759922477, rs1554093168, rs755246924, rs1477347690, rs774157225, rs1420939606, rs781417096, rs780563835, rs772263867, rs139632595, rs768997239, rs200594402, rs1160669103, rs759331139, rs1566713184, rs753591864, rs769473411, rs1566696845, rs201467485, rs1258569046, rs1598480419, rs1309003036, rs759420180, rs199728745, rs773838753, rs1582712331, rs772146380, rs1223645705, rs774056037, rs1570621555, rs778263701, rs1557531984, rs750266350, rs1570626350, rs1584071201, rs1582576986, rs1246937494, rs1650621772, rs760433806, rs1447478732, rs1472685858, rs1712612585, rs1256144022, rs774755297, rs752086581, rs1887100431, rs762979613, rs774877872, rs201386427, rs199862050	23023333

Show/Hide Unknown Diseases (7)

Unknown
Disease name	Disease term	dbSNP ID	References
Astigmatism	Astigmatism
Cerebellar hypoplasia	Cerebellar Hypoplasia
Congenital clubfoot	Congenital clubfoot
Dysmorphic features	Dysmorphic features		23023333, 11559748, 11559747
Esotropia	Esotropia
Hyperopia	Hyperopia
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum

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