ATAD1 (ATPase family AAA domain containing 1)

Gene

• Entrez ID: 84896
• Gene name: ATPase family AAA domain containing 1
• Gene symbol: ATAD1
• Synonyms (NCBI Gene): AFDC1, FNP001, HKPX4, Msp1, THORASE, hATAD1
• Disease Acronyms (UniProt): HKPX4
• Chromosome: 10
• Chromosome location: 10q23.31

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs751499706	AT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1554874859	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024433	hsa-miR-215-5p	Microarray	19074876
MIRT026753	hsa-miR-192-5p	Microarray	19074876
MIRT041617	hsa-miR-146b-5p	CLASH	23622248
MIRT052731	hsa-miR-1260b	CLASH	23622248
MIRT441169	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441169	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT803636	hsa-miR-1238	CLIP-seq
MIRT803637	hsa-miR-124	CLIP-seq
MIRT803638	hsa-miR-1287	CLIP-seq
MIRT803639	hsa-miR-194	CLIP-seq
MIRT803640	hsa-miR-28-3p	CLIP-seq
MIRT803641	hsa-miR-3065-3p	CLIP-seq
MIRT803642	hsa-miR-3155	CLIP-seq
MIRT803643	hsa-miR-3155b	CLIP-seq
MIRT803644	hsa-miR-335	CLIP-seq
MIRT803645	hsa-miR-3545-3p	CLIP-seq
MIRT803646	hsa-miR-3652	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT803648	hsa-miR-3682-3p	CLIP-seq
MIRT803649	hsa-miR-3914	CLIP-seq
MIRT803650	hsa-miR-3973	CLIP-seq
MIRT803651	hsa-miR-3974	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT803653	hsa-miR-4302	CLIP-seq
MIRT803654	hsa-miR-4320	CLIP-seq
MIRT803655	hsa-miR-4326	CLIP-seq
MIRT803656	hsa-miR-433	CLIP-seq
MIRT803657	hsa-miR-4420	CLIP-seq
MIRT803658	hsa-miR-4430	CLIP-seq
MIRT803659	hsa-miR-4502	CLIP-seq
MIRT803660	hsa-miR-4520a-5p	CLIP-seq
MIRT803661	hsa-miR-4520b-5p	CLIP-seq
MIRT803662	hsa-miR-4539	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT803664	hsa-miR-466	CLIP-seq
MIRT803665	hsa-miR-4691-5p	CLIP-seq
MIRT803666	hsa-miR-4709-5p	CLIP-seq
MIRT803667	hsa-miR-4724-5p	CLIP-seq
MIRT803668	hsa-miR-4731-3p	CLIP-seq
MIRT803669	hsa-miR-4789-3p	CLIP-seq
MIRT803670	hsa-miR-4789-5p	CLIP-seq
MIRT803671	hsa-miR-4801	CLIP-seq
MIRT803672	hsa-miR-484	CLIP-seq
MIRT803673	hsa-miR-496	CLIP-seq
MIRT803674	hsa-miR-506	CLIP-seq
MIRT803675	hsa-miR-520g	CLIP-seq
MIRT803676	hsa-miR-520h	CLIP-seq
MIRT803677	hsa-miR-548k	CLIP-seq
MIRT803678	hsa-miR-634	CLIP-seq
MIRT803679	hsa-miR-662	CLIP-seq
MIRT803680	hsa-miR-802	CLIP-seq
MIRT803681	hsa-miR-888	CLIP-seq
MIRT803636	hsa-miR-1238	CLIP-seq
MIRT1937374	hsa-miR-139-5p	CLIP-seq
MIRT1937375	hsa-miR-1825	CLIP-seq
MIRT803639	hsa-miR-194	CLIP-seq
MIRT1937376	hsa-miR-199a-5p	CLIP-seq
MIRT1937377	hsa-miR-199b-5p	CLIP-seq
MIRT1937378	hsa-miR-3140-3p	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT803657	hsa-miR-4420	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT1937379	hsa-miR-4728-3p	CLIP-seq
MIRT1937380	hsa-miR-579	CLIP-seq
MIRT1937381	hsa-miR-642b	CLIP-seq
MIRT803680	hsa-miR-802	CLIP-seq
MIRT2176980	hsa-miR-1276	CLIP-seq
MIRT803638	hsa-miR-1287	CLIP-seq
MIRT2176981	hsa-miR-1296	CLIP-seq
MIRT2176982	hsa-miR-135a	CLIP-seq
MIRT2176983	hsa-miR-135b	CLIP-seq
MIRT803639	hsa-miR-194	CLIP-seq
MIRT2176984	hsa-miR-2909	CLIP-seq
MIRT803642	hsa-miR-3155	CLIP-seq
MIRT803643	hsa-miR-3155b	CLIP-seq
MIRT2176985	hsa-miR-338-5p	CLIP-seq
MIRT2176986	hsa-miR-361-5p	CLIP-seq
MIRT2176987	hsa-miR-3622a-3p	CLIP-seq
MIRT2176988	hsa-miR-3622b-3p	CLIP-seq
MIRT803646	hsa-miR-3652	CLIP-seq
MIRT2176989	hsa-miR-3658	CLIP-seq
MIRT2176990	hsa-miR-380	CLIP-seq
MIRT803651	hsa-miR-3974	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT2176991	hsa-miR-4289	CLIP-seq
MIRT2176992	hsa-miR-4311	CLIP-seq
MIRT803654	hsa-miR-4320	CLIP-seq
MIRT803655	hsa-miR-4326	CLIP-seq
MIRT803656	hsa-miR-433	CLIP-seq
MIRT803658	hsa-miR-4430	CLIP-seq
MIRT2176993	hsa-miR-4436b-3p	CLIP-seq
MIRT2176994	hsa-miR-4495	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT803664	hsa-miR-466	CLIP-seq
MIRT803665	hsa-miR-4691-5p	CLIP-seq
MIRT803666	hsa-miR-4709-5p	CLIP-seq
MIRT803668	hsa-miR-4731-3p	CLIP-seq
MIRT2176995	hsa-miR-4738-3p	CLIP-seq
MIRT2176996	hsa-miR-4761-3p	CLIP-seq
MIRT803669	hsa-miR-4789-3p	CLIP-seq
MIRT803670	hsa-miR-4789-5p	CLIP-seq
MIRT2176997	hsa-miR-4795-3p	CLIP-seq
MIRT803671	hsa-miR-4801	CLIP-seq
MIRT803672	hsa-miR-484	CLIP-seq
MIRT2176998	hsa-miR-494	CLIP-seq
MIRT2176999	hsa-miR-514	CLIP-seq
MIRT2177000	hsa-miR-514b-3p	CLIP-seq
MIRT2177001	hsa-miR-577	CLIP-seq
MIRT2177002	hsa-miR-583	CLIP-seq
MIRT2177003	hsa-miR-587	CLIP-seq
MIRT1937381	hsa-miR-642b	CLIP-seq
MIRT803679	hsa-miR-662	CLIP-seq
MIRT803680	hsa-miR-802	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT2426534	hsa-miR-1225-3p	CLIP-seq
MIRT2426535	hsa-miR-1233	CLIP-seq
MIRT2426536	hsa-miR-4641	CLIP-seq
MIRT2426537	hsa-miR-4803	CLIP-seq
MIRT2435543	hsa-miR-208a	CLIP-seq
MIRT2435544	hsa-miR-208b	CLIP-seq
MIRT2176989	hsa-miR-3658	CLIP-seq
MIRT2435545	hsa-miR-3667-5p	CLIP-seq
MIRT2435546	hsa-miR-4729	CLIP-seq
MIRT2435547	hsa-miR-499-5p	CLIP-seq
MIRT2444141	hsa-miR-3163	CLIP-seq
MIRT2444142	hsa-miR-340	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT2444143	hsa-miR-4282	CLIP-seq
MIRT803673	hsa-miR-496	CLIP-seq
MIRT2444144	hsa-miR-944	CLIP-seq
MIRT2444141	hsa-miR-3163	CLIP-seq
MIRT2444142	hsa-miR-340	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT2444143	hsa-miR-4282	CLIP-seq
MIRT803673	hsa-miR-496	CLIP-seq
MIRT2444144	hsa-miR-944	CLIP-seq
MIRT2480327	hsa-miR-101	CLIP-seq
MIRT2480328	hsa-miR-1208	CLIP-seq
MIRT2426534	hsa-miR-1225-3p	CLIP-seq
MIRT2480329	hsa-miR-1229	CLIP-seq
MIRT2426535	hsa-miR-1233	CLIP-seq
MIRT803636	hsa-miR-1238	CLIP-seq
MIRT803637	hsa-miR-124	CLIP-seq
MIRT2480330	hsa-miR-1244	CLIP-seq
MIRT2480331	hsa-miR-1245b-5p	CLIP-seq
MIRT2480332	hsa-miR-1263	CLIP-seq
MIRT2480333	hsa-miR-1273d	CLIP-seq
MIRT2480334	hsa-miR-1303	CLIP-seq
MIRT2480335	hsa-miR-1305	CLIP-seq
MIRT2176982	hsa-miR-135a	CLIP-seq
MIRT2176983	hsa-miR-135b	CLIP-seq
MIRT1937374	hsa-miR-139-5p	CLIP-seq
MIRT2480336	hsa-miR-144	CLIP-seq
MIRT2480337	hsa-miR-147	CLIP-seq
MIRT2480338	hsa-miR-186	CLIP-seq
MIRT2480339	hsa-miR-199a-3p	CLIP-seq
MIRT2480340	hsa-miR-199b-3p	CLIP-seq
MIRT2435543	hsa-miR-208a	CLIP-seq
MIRT2435544	hsa-miR-208b	CLIP-seq
MIRT2480341	hsa-miR-298	CLIP-seq
MIRT803641	hsa-miR-3065-3p	CLIP-seq
MIRT2480342	hsa-miR-30a	CLIP-seq
MIRT2480343	hsa-miR-30b	CLIP-seq
MIRT2480344	hsa-miR-30c	CLIP-seq
MIRT2480345	hsa-miR-30d	CLIP-seq
MIRT2480346	hsa-miR-30e	CLIP-seq
MIRT2480347	hsa-miR-3129-3p	CLIP-seq
MIRT2480348	hsa-miR-3129-5p	CLIP-seq
MIRT2480349	hsa-miR-3133	CLIP-seq
MIRT2480350	hsa-miR-3142	CLIP-seq
MIRT2480351	hsa-miR-3158-5p	CLIP-seq
MIRT2444141	hsa-miR-3163	CLIP-seq
MIRT2480352	hsa-miR-3170	CLIP-seq
MIRT2480353	hsa-miR-3185	CLIP-seq
MIRT2480354	hsa-miR-3201	CLIP-seq
MIRT2480355	hsa-miR-323-3p	CLIP-seq
MIRT2176985	hsa-miR-338-5p	CLIP-seq
MIRT2480356	hsa-miR-34b	CLIP-seq
MIRT2480357	hsa-miR-3646	CLIP-seq
MIRT2176989	hsa-miR-3658	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT2435545	hsa-miR-3667-5p	CLIP-seq
MIRT803648	hsa-miR-3682-3p	CLIP-seq
MIRT2480358	hsa-miR-3688-3p	CLIP-seq
MIRT2480359	hsa-miR-3690	CLIP-seq
MIRT2480360	hsa-miR-3691-5p	CLIP-seq
MIRT2480361	hsa-miR-3911	CLIP-seq
MIRT803649	hsa-miR-3914	CLIP-seq
MIRT803650	hsa-miR-3973	CLIP-seq
MIRT2480362	hsa-miR-4254	CLIP-seq
MIRT2480363	hsa-miR-4259	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT803654	hsa-miR-4320	CLIP-seq
MIRT2480364	hsa-miR-4418	CLIP-seq
MIRT2480365	hsa-miR-4436b-5p	CLIP-seq
MIRT2480366	hsa-miR-4491	CLIP-seq
MIRT2176994	hsa-miR-4495	CLIP-seq
MIRT803659	hsa-miR-4502	CLIP-seq
MIRT803660	hsa-miR-4520a-5p	CLIP-seq
MIRT803661	hsa-miR-4520b-5p	CLIP-seq
MIRT2426536	hsa-miR-4641	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT2480367	hsa-miR-4657	CLIP-seq
MIRT803664	hsa-miR-466	CLIP-seq
MIRT2480368	hsa-miR-4661-3p	CLIP-seq
MIRT2480369	hsa-miR-4666-5p	CLIP-seq
MIRT2480370	hsa-miR-4694-3p	CLIP-seq
MIRT2480371	hsa-miR-4696	CLIP-seq
MIRT2480372	hsa-miR-4703-3p	CLIP-seq
MIRT2480373	hsa-miR-4715-5p	CLIP-seq
MIRT2480374	hsa-miR-4717-3p	CLIP-seq
MIRT2480375	hsa-miR-4718	CLIP-seq
MIRT2435546	hsa-miR-4729	CLIP-seq
MIRT2176995	hsa-miR-4738-3p	CLIP-seq
MIRT2480376	hsa-miR-4752	CLIP-seq
MIRT2480377	hsa-miR-4760-5p	CLIP-seq
MIRT803669	hsa-miR-4789-3p	CLIP-seq
MIRT803670	hsa-miR-4789-5p	CLIP-seq
MIRT2480378	hsa-miR-4791	CLIP-seq
MIRT2176997	hsa-miR-4795-3p	CLIP-seq
MIRT2426537	hsa-miR-4803	CLIP-seq
MIRT2480379	hsa-miR-488	CLIP-seq
MIRT2176998	hsa-miR-494	CLIP-seq
MIRT2435547	hsa-miR-499-5p	CLIP-seq
MIRT803674	hsa-miR-506	CLIP-seq
MIRT2480380	hsa-miR-509-3-5p	CLIP-seq
MIRT2480381	hsa-miR-509-5p	CLIP-seq
MIRT2480382	hsa-miR-513a-3p	CLIP-seq
MIRT2176999	hsa-miR-514	CLIP-seq
MIRT2177000	hsa-miR-514b-3p	CLIP-seq
MIRT803675	hsa-miR-520g	CLIP-seq
MIRT803676	hsa-miR-520h	CLIP-seq
MIRT2480383	hsa-miR-548ac	CLIP-seq
MIRT2480384	hsa-miR-548ae	CLIP-seq
MIRT2480385	hsa-miR-548aj	CLIP-seq
MIRT2480386	hsa-miR-548am	CLIP-seq
MIRT2480387	hsa-miR-548d-3p	CLIP-seq
MIRT803677	hsa-miR-548k	CLIP-seq
MIRT2480388	hsa-miR-548p	CLIP-seq
MIRT2480389	hsa-miR-548x	CLIP-seq
MIRT2480390	hsa-miR-548z	CLIP-seq
MIRT2480391	hsa-miR-561	CLIP-seq
MIRT2480392	hsa-miR-576-3p	CLIP-seq
MIRT2480393	hsa-miR-578	CLIP-seq
MIRT2480394	hsa-miR-581	CLIP-seq
MIRT2480395	hsa-miR-607	CLIP-seq
MIRT803678	hsa-miR-634	CLIP-seq
MIRT1937381	hsa-miR-642b	CLIP-seq
MIRT2480396	hsa-miR-644	CLIP-seq
MIRT2480397	hsa-miR-656	CLIP-seq
MIRT2480398	hsa-miR-660	CLIP-seq
MIRT2480399	hsa-miR-765	CLIP-seq
MIRT2480400	hsa-miR-889	CLIP-seq
MIRT2480401	hsa-miR-936	CLIP-seq
MIRT2480327	hsa-miR-101	CLIP-seq
MIRT2480328	hsa-miR-1208	CLIP-seq
MIRT2426534	hsa-miR-1225-3p	CLIP-seq
MIRT2480329	hsa-miR-1229	CLIP-seq
MIRT2426535	hsa-miR-1233	CLIP-seq
MIRT803636	hsa-miR-1238	CLIP-seq
MIRT803637	hsa-miR-124	CLIP-seq
MIRT2480330	hsa-miR-1244	CLIP-seq
MIRT2480331	hsa-miR-1245b-5p	CLIP-seq
MIRT2480332	hsa-miR-1263	CLIP-seq
MIRT2480333	hsa-miR-1273d	CLIP-seq
MIRT2480334	hsa-miR-1303	CLIP-seq
MIRT2480335	hsa-miR-1305	CLIP-seq
MIRT2176982	hsa-miR-135a	CLIP-seq
MIRT2176983	hsa-miR-135b	CLIP-seq
MIRT1937374	hsa-miR-139-5p	CLIP-seq
MIRT2480336	hsa-miR-144	CLIP-seq
MIRT2480337	hsa-miR-147	CLIP-seq
MIRT2480338	hsa-miR-186	CLIP-seq
MIRT2480339	hsa-miR-199a-3p	CLIP-seq
MIRT2480340	hsa-miR-199b-3p	CLIP-seq
MIRT2435543	hsa-miR-208a	CLIP-seq
MIRT2435544	hsa-miR-208b	CLIP-seq
MIRT2480341	hsa-miR-298	CLIP-seq
MIRT803641	hsa-miR-3065-3p	CLIP-seq
MIRT2480342	hsa-miR-30a	CLIP-seq
MIRT2480343	hsa-miR-30b	CLIP-seq
MIRT2480344	hsa-miR-30c	CLIP-seq
MIRT2480345	hsa-miR-30d	CLIP-seq
MIRT2480346	hsa-miR-30e	CLIP-seq
MIRT2480347	hsa-miR-3129-3p	CLIP-seq
MIRT2480348	hsa-miR-3129-5p	CLIP-seq
MIRT2480349	hsa-miR-3133	CLIP-seq
MIRT2480350	hsa-miR-3142	CLIP-seq
MIRT2480351	hsa-miR-3158-5p	CLIP-seq
MIRT2444141	hsa-miR-3163	CLIP-seq
MIRT2480352	hsa-miR-3170	CLIP-seq
MIRT2480353	hsa-miR-3185	CLIP-seq
MIRT2480354	hsa-miR-3201	CLIP-seq
MIRT2480355	hsa-miR-323-3p	CLIP-seq
MIRT2176985	hsa-miR-338-5p	CLIP-seq
MIRT2480356	hsa-miR-34b	CLIP-seq
MIRT2480357	hsa-miR-3646	CLIP-seq
MIRT2176989	hsa-miR-3658	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT2435545	hsa-miR-3667-5p	CLIP-seq
MIRT803648	hsa-miR-3682-3p	CLIP-seq
MIRT2480358	hsa-miR-3688-3p	CLIP-seq
MIRT2480359	hsa-miR-3690	CLIP-seq
MIRT2480360	hsa-miR-3691-5p	CLIP-seq
MIRT2480361	hsa-miR-3911	CLIP-seq
MIRT803649	hsa-miR-3914	CLIP-seq
MIRT803650	hsa-miR-3973	CLIP-seq
MIRT2480362	hsa-miR-4254	CLIP-seq
MIRT2480363	hsa-miR-4259	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT803654	hsa-miR-4320	CLIP-seq
MIRT2480364	hsa-miR-4418	CLIP-seq
MIRT2480365	hsa-miR-4436b-5p	CLIP-seq
MIRT2480366	hsa-miR-4491	CLIP-seq
MIRT2176994	hsa-miR-4495	CLIP-seq
MIRT803659	hsa-miR-4502	CLIP-seq
MIRT803660	hsa-miR-4520a-5p	CLIP-seq
MIRT803661	hsa-miR-4520b-5p	CLIP-seq
MIRT2426536	hsa-miR-4641	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT2480367	hsa-miR-4657	CLIP-seq
MIRT2480368	hsa-miR-4661-3p	CLIP-seq
MIRT2480369	hsa-miR-4666-5p	CLIP-seq
MIRT2480370	hsa-miR-4694-3p	CLIP-seq
MIRT2480371	hsa-miR-4696	CLIP-seq
MIRT2480372	hsa-miR-4703-3p	CLIP-seq
MIRT2480373	hsa-miR-4715-5p	CLIP-seq
MIRT2480374	hsa-miR-4717-3p	CLIP-seq
MIRT2480375	hsa-miR-4718	CLIP-seq
MIRT2435546	hsa-miR-4729	CLIP-seq
MIRT2176995	hsa-miR-4738-3p	CLIP-seq
MIRT2480376	hsa-miR-4752	CLIP-seq
MIRT2480377	hsa-miR-4760-5p	CLIP-seq
MIRT2480378	hsa-miR-4791	CLIP-seq
MIRT2176997	hsa-miR-4795-3p	CLIP-seq
MIRT2426537	hsa-miR-4803	CLIP-seq
MIRT2480379	hsa-miR-488	CLIP-seq
MIRT2176998	hsa-miR-494	CLIP-seq
MIRT2435547	hsa-miR-499-5p	CLIP-seq
MIRT803674	hsa-miR-506	CLIP-seq
MIRT2480380	hsa-miR-509-3-5p	CLIP-seq
MIRT2480381	hsa-miR-509-5p	CLIP-seq
MIRT2480382	hsa-miR-513a-3p	CLIP-seq
MIRT2176999	hsa-miR-514	CLIP-seq
MIRT2177000	hsa-miR-514b-3p	CLIP-seq
MIRT803675	hsa-miR-520g	CLIP-seq
MIRT803676	hsa-miR-520h	CLIP-seq
MIRT2480383	hsa-miR-548ac	CLIP-seq
MIRT2480384	hsa-miR-548ae	CLIP-seq
MIRT2480385	hsa-miR-548aj	CLIP-seq
MIRT2480386	hsa-miR-548am	CLIP-seq
MIRT2480387	hsa-miR-548d-3p	CLIP-seq
MIRT803677	hsa-miR-548k	CLIP-seq
MIRT2480388	hsa-miR-548p	CLIP-seq
MIRT2480389	hsa-miR-548x	CLIP-seq
MIRT2480390	hsa-miR-548z	CLIP-seq
MIRT2480391	hsa-miR-561	CLIP-seq
MIRT2480392	hsa-miR-576-3p	CLIP-seq
MIRT2480395	hsa-miR-607	CLIP-seq
MIRT803678	hsa-miR-634	CLIP-seq
MIRT1937381	hsa-miR-642b	CLIP-seq
MIRT2480396	hsa-miR-644	CLIP-seq
MIRT2480397	hsa-miR-656	CLIP-seq
MIRT2480398	hsa-miR-660	CLIP-seq
MIRT2480399	hsa-miR-765	CLIP-seq
MIRT2480401	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002092	Process	Positive regulation of receptor internalization	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0007612	Process	Learning	ISS
GO:0007613	Process	Memory	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016887	Function	ATPase activity	ISS
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA

Other IDs

• MIM: 614452
• HGNC: 25903
• e!Ensembl: ENSG00000138138

Protein

• UniProt ID: Q8NBU5
• Protein name: Outer mitochondrial transmembrane helix translocase (EC 7.4.2.-) (ATPase family AAA domain-containing protein 1) (hATAD1) (Thorase)
• Protein function: Outer mitochondrial translocase required to remove mislocalized tail-anchored transmembrane proteins on mitochondria (PubMed:24843043). Specifically recognizes and binds tail-anchored transmembrane proteins: acts as a dislocase that mediates the
• PDB: 7UPR, 7UPT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00004	AAA	129 → 259	ATPase family associated with various cellular activities (AAA)	Domain
  PF17862	AAA_lid_3	281 → 336	AAA+ lid domain	Domain

• Sequence:

  MVHAEAFSRPLSRNEVVGLIFRLTIFGAVTYFTIKWMVDAIDPTRKQKVEAQKQAEKLMK
  QIGVKNVKLSEYEMSIAAHLVDPLNMHVTWSDIAGLDDVITDLKDTVILPIKKKHLFENS
  RLLQPPKGVLLYGPPGCGKTLIAKATAKEAGCRFINLQPSTLTDKWYGESQKLAAAVFSL
  AIKLQPSIIFIDEIDSFLRNRSSSDHEATAMMKAQFMSLWDGLDTDHSCQVIVMGATNRP
  QDLDSAIMRRMPTRFHINQPALKQREAILKLILKNENVDRHVDLLEVAQETDGFSGSDLK
  EMCRDAALLCVREYVNSTSEESHDEDEIRPVQQQDLHRAIEKMKKSKDAAFQNVLTHVCL
  D

• Sequence length: 361

Pathways

Reactome:

Class I peroxisomal membrane protein import

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
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
Distal arthrogryposis	Distal arthrogryposis syndrome	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919, rs587776920, rs587777129, rs587777130, rs587777131, rs199476146, rs606231471, rs370167241, rs765430577, rs878853117, rs878853118, rs1555621138, rs149459910, rs1553566820, rs1553567411, rs1553567937, rs1341894581, rs201987709, rs1554658995, rs1554289078, rs762979130, rs1554659746, rs1555242493, rs1555769818, rs1567973091, rs1563929039, rs1563929143, rs1350968647, rs1356994386, rs1229171141, rs1567559027, rs1563929383, rs113612402, rs1465836003, rs1597490381, rs1190799930, rs767987856, rs1587956195, rs1281970248, rs1575076514, rs1597482824, rs1825151618
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Hereditary hyperekplexia	Hereditary hyperekplexia	rs121918408, rs121918410, rs281864915, rs121918415, rs121918418, rs281864914, rs281864916, rs281864921, rs281864919, rs281864918, rs199547699, rs760390019, rs1554083576, rs1468001309
Hyperekplexia	Hereditary Hyperexplexia, HYPEREKPLEXIA 4	rs121908493, rs281864924, rs121908495, rs121908496, rs121908497, rs121909749, rs281864922, rs121918408, rs121918409, rs121918410, rs121918411, rs121918412, rs121918413, rs281864915, rs121918415, rs121918417, rs121918418, rs267606848, rs281864926, rs281864914, rs281864916, rs281864917, rs281864920, rs281864921, rs281864925, rs281864923, rs199547699, rs752254977, rs762864856, rs1554085893, rs746631259, rs772652517, rs1181626947, rs1554874859, rs751499706, rs1415892964, rs1560962569, rs1560962636, rs376783257, rs767695215, rs770660705, rs1380139789, rs778603956, rs1590154255, rs1581623798, rs1579175843, rs1581620729, rs1581645142	29390050, 28180185, 29659736
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

Unknown
Disease term	Disease name	Evidence	References	Source
Hereditary Hyperekplexia	hereditary hyperekplexia			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Arthrogryposis	Associate	29390050
Brain Diseases	Associate	29390050
Mitochondrial Diseases	Associate	34351705
Stiff Person Syndrome	Associate	29390050
Zellweger Syndrome	Associate	34351705