TRAK1 (trafficking kinesin protein 1)

Gene

• Entrez ID: 22906
• Gene name: Trafficking kinesin protein 1
• Gene symbol: TRAK1
• Synonyms (NCBI Gene): DEE68, EIEE68, MILT1, OIP106
• Disease Acronyms (UniProt): DEE68
• Chromosome: 3
• Chromosome location: 3p22.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553608726	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559390743	->C	Pathogenic-likely-pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1559877920	A>C,G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020781	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT048852	hsa-miR-93-5p	CLASH	23622248
MIRT042880	hsa-miR-324-3p	CLASH	23622248
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT627359	hsa-miR-711	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	27418678
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	27418678
MIRT614702	hsa-miR-16-5p	HITS-CLIP	27418678
MIRT614701	hsa-miR-195-5p	HITS-CLIP	27418678
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	27418678
MIRT614698	hsa-miR-424-5p	HITS-CLIP	27418678
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	27418678
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	27418678
MIRT614699	hsa-miR-497-5p	HITS-CLIP	27418678
MIRT614695	hsa-miR-503-5p	HITS-CLIP	27418678
MIRT614694	hsa-miR-646	HITS-CLIP	27418678
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	27418678
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT627359	hsa-miR-711	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT614702	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT614701	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT614700	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT614699	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT614698	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT614697	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT614696	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT614695	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT614694	hsa-miR-646	HITS-CLIP	23824327
MIRT614693	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT614692	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT614691	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT1451317	hsa-miR-103a	CLIP-seq
MIRT1451318	hsa-miR-107	CLIP-seq
MIRT1451319	hsa-miR-1197	CLIP-seq
MIRT1451320	hsa-miR-1324	CLIP-seq
MIRT1451321	hsa-miR-146a	CLIP-seq
MIRT1451322	hsa-miR-146b-5p	CLIP-seq
MIRT1451323	hsa-miR-181a	CLIP-seq
MIRT1451324	hsa-miR-181b	CLIP-seq
MIRT1451325	hsa-miR-181c	CLIP-seq
MIRT1451326	hsa-miR-181d	CLIP-seq
MIRT1451327	hsa-miR-214	CLIP-seq
MIRT1451328	hsa-miR-3160-3p	CLIP-seq
MIRT1451329	hsa-miR-3184	CLIP-seq
MIRT1451330	hsa-miR-3619-5p	CLIP-seq
MIRT1451331	hsa-miR-3659	CLIP-seq
MIRT1451332	hsa-miR-377	CLIP-seq
MIRT1451333	hsa-miR-423-5p	CLIP-seq
MIRT1451334	hsa-miR-4251	CLIP-seq
MIRT1451335	hsa-miR-4262	CLIP-seq
MIRT1451336	hsa-miR-4270	CLIP-seq
MIRT1451337	hsa-miR-4441	CLIP-seq
MIRT1451338	hsa-miR-4658	CLIP-seq
MIRT1451339	hsa-miR-4753-3p	CLIP-seq
MIRT1451340	hsa-miR-574-5p	CLIP-seq
MIRT1451341	hsa-miR-589	CLIP-seq
MIRT1451342	hsa-miR-761	CLIP-seq
MIRT1451343	hsa-miR-1246	CLIP-seq
MIRT1451344	hsa-miR-223	CLIP-seq
MIRT1451345	hsa-miR-3154	CLIP-seq
MIRT1451346	hsa-miR-3185	CLIP-seq
MIRT1451347	hsa-miR-3192	CLIP-seq
MIRT1451348	hsa-miR-338-5p	CLIP-seq
MIRT1451349	hsa-miR-3689a-3p	CLIP-seq
MIRT1451350	hsa-miR-3689c	CLIP-seq
MIRT1451351	hsa-miR-4302	CLIP-seq
MIRT1451352	hsa-miR-4305	CLIP-seq
MIRT1451353	hsa-miR-4320	CLIP-seq
MIRT1451354	hsa-miR-4492	CLIP-seq
MIRT1451355	hsa-miR-4498	CLIP-seq
MIRT1451356	hsa-miR-4505	CLIP-seq
MIRT1451357	hsa-miR-451b	CLIP-seq
MIRT1451358	hsa-miR-4666-3p	CLIP-seq
MIRT1451359	hsa-miR-4697-3p	CLIP-seq
MIRT1451360	hsa-miR-4699-3p	CLIP-seq
MIRT1451361	hsa-miR-4728-5p	CLIP-seq
MIRT1451362	hsa-miR-4802-3p	CLIP-seq
MIRT1451363	hsa-miR-490-5p	CLIP-seq
MIRT1451364	hsa-miR-548b-3p	CLIP-seq
MIRT1451365	hsa-miR-762	CLIP-seq
MIRT2134927	hsa-miR-3074-5p	CLIP-seq
MIRT2134928	hsa-miR-30a	CLIP-seq
MIRT2134929	hsa-miR-30b	CLIP-seq
MIRT2134930	hsa-miR-30c	CLIP-seq
MIRT2134931	hsa-miR-30d	CLIP-seq
MIRT2134932	hsa-miR-30e	CLIP-seq
MIRT2134933	hsa-miR-3124-3p	CLIP-seq
MIRT1451345	hsa-miR-3154	CLIP-seq
MIRT1451346	hsa-miR-3185	CLIP-seq
MIRT2356152	hsa-miR-15a	CLIP-seq
MIRT2356153	hsa-miR-15b	CLIP-seq
MIRT2356154	hsa-miR-16	CLIP-seq
MIRT2356155	hsa-miR-195	CLIP-seq
MIRT2134933	hsa-miR-3124-3p	CLIP-seq
MIRT1451345	hsa-miR-3154	CLIP-seq
MIRT2356156	hsa-miR-3157-5p	CLIP-seq
MIRT1451346	hsa-miR-3185	CLIP-seq
MIRT2356157	hsa-miR-424	CLIP-seq
MIRT2356158	hsa-miR-4524	CLIP-seq
MIRT2356159	hsa-miR-4691-3p	CLIP-seq
MIRT2356160	hsa-miR-497	CLIP-seq
MIRT2356161	hsa-miR-503	CLIP-seq
MIRT2396274	hsa-miR-1289	CLIP-seq
MIRT2396275	hsa-miR-1293	CLIP-seq
MIRT2356156	hsa-miR-3157-5p	CLIP-seq
MIRT2396276	hsa-miR-3198	CLIP-seq
MIRT2396277	hsa-miR-4294	CLIP-seq
MIRT2396278	hsa-miR-4309	CLIP-seq
MIRT2396279	hsa-miR-4483	CLIP-seq
MIRT2356159	hsa-miR-4691-3p	CLIP-seq
MIRT2649659	hsa-miR-1252	CLIP-seq
MIRT2649660	hsa-miR-1256	CLIP-seq
MIRT2649661	hsa-miR-1272	CLIP-seq
MIRT2649662	hsa-miR-1279	CLIP-seq
MIRT2649663	hsa-miR-134	CLIP-seq
MIRT2649664	hsa-miR-1910	CLIP-seq
MIRT2649665	hsa-miR-2053	CLIP-seq
MIRT2649666	hsa-miR-2277-3p	CLIP-seq
MIRT2649667	hsa-miR-299-3p	CLIP-seq
MIRT2649668	hsa-miR-3065-3p	CLIP-seq
MIRT2649669	hsa-miR-3118	CLIP-seq
MIRT2649670	hsa-miR-3128	CLIP-seq
MIRT2649671	hsa-miR-3163	CLIP-seq
MIRT2649672	hsa-miR-3164	CLIP-seq
MIRT2649673	hsa-miR-3166	CLIP-seq
MIRT2649674	hsa-miR-3194-5p	CLIP-seq
MIRT2649675	hsa-miR-3202	CLIP-seq
MIRT2649676	hsa-miR-323b-5p	CLIP-seq
MIRT2649677	hsa-miR-3620	CLIP-seq
MIRT2649678	hsa-miR-362-5p	CLIP-seq
MIRT2649679	hsa-miR-3662	CLIP-seq
MIRT2649680	hsa-miR-3921	CLIP-seq
MIRT2649681	hsa-miR-3942-3p	CLIP-seq
MIRT2649682	hsa-miR-3945	CLIP-seq
MIRT2649683	hsa-miR-4253	CLIP-seq
MIRT2649684	hsa-miR-4265	CLIP-seq
MIRT2649685	hsa-miR-4296	CLIP-seq
MIRT2649686	hsa-miR-431	CLIP-seq
MIRT2649687	hsa-miR-4322	CLIP-seq
MIRT2649688	hsa-miR-4417	CLIP-seq
MIRT2649689	hsa-miR-4422	CLIP-seq
MIRT2649690	hsa-miR-4427	CLIP-seq
MIRT2649691	hsa-miR-4435	CLIP-seq
MIRT2649692	hsa-miR-4446-5p	CLIP-seq
MIRT2649693	hsa-miR-4481	CLIP-seq
MIRT2649694	hsa-miR-4533	CLIP-seq
MIRT2649695	hsa-miR-455-3p	CLIP-seq
MIRT2649696	hsa-miR-4653-5p	CLIP-seq
MIRT2649697	hsa-miR-4666-5p	CLIP-seq
MIRT2649698	hsa-miR-4680-3p	CLIP-seq
MIRT2649699	hsa-miR-4711-3p	CLIP-seq
MIRT2649700	hsa-miR-4720-5p	CLIP-seq
MIRT2649701	hsa-miR-4738-3p	CLIP-seq
MIRT2649702	hsa-miR-4745-5p	CLIP-seq
MIRT2649703	hsa-miR-4755-5p	CLIP-seq
MIRT2649704	hsa-miR-4758-5p	CLIP-seq
MIRT2649705	hsa-miR-4768-5p	CLIP-seq
MIRT2649706	hsa-miR-4790-3p	CLIP-seq
MIRT2649707	hsa-miR-4799-3p	CLIP-seq
MIRT1451362	hsa-miR-4802-3p	CLIP-seq
MIRT2649708	hsa-miR-494	CLIP-seq
MIRT2649709	hsa-miR-500b	CLIP-seq
MIRT2649710	hsa-miR-501-5p	CLIP-seq
MIRT2649711	hsa-miR-518a-3p	CLIP-seq
MIRT2649712	hsa-miR-518b	CLIP-seq
MIRT2649713	hsa-miR-518c	CLIP-seq
MIRT2649714	hsa-miR-518d-3p	CLIP-seq
MIRT2649715	hsa-miR-518e	CLIP-seq
MIRT2649716	hsa-miR-518f	CLIP-seq
MIRT2649717	hsa-miR-522	CLIP-seq
MIRT2649718	hsa-miR-542-3p	CLIP-seq
MIRT2649719	hsa-miR-548al	CLIP-seq
MIRT2649720	hsa-miR-548m	CLIP-seq
MIRT2649721	hsa-miR-604	CLIP-seq
MIRT2649722	hsa-miR-635	CLIP-seq
MIRT2649723	hsa-miR-642b	CLIP-seq
MIRT2649724	hsa-miR-647	CLIP-seq
MIRT2649725	hsa-miR-659	CLIP-seq
MIRT2649726	hsa-miR-758	CLIP-seq
MIRT2649727	hsa-miR-942	CLIP-seq
MIRT2694056	hsa-miR-1227	CLIP-seq
MIRT2649659	hsa-miR-1252	CLIP-seq
MIRT2649660	hsa-miR-1256	CLIP-seq
MIRT2649661	hsa-miR-1272	CLIP-seq
MIRT2649662	hsa-miR-1279	CLIP-seq
MIRT2649664	hsa-miR-1910	CLIP-seq
MIRT2694057	hsa-miR-1912	CLIP-seq
MIRT2649665	hsa-miR-2053	CLIP-seq
MIRT2649666	hsa-miR-2277-3p	CLIP-seq
MIRT2694058	hsa-miR-2467-5p	CLIP-seq
MIRT2649667	hsa-miR-299-3p	CLIP-seq
MIRT2649668	hsa-miR-3065-3p	CLIP-seq
MIRT2694059	hsa-miR-3121-5p	CLIP-seq
MIRT2649670	hsa-miR-3128	CLIP-seq
MIRT2694060	hsa-miR-3135b	CLIP-seq
MIRT2694061	hsa-miR-3138	CLIP-seq
MIRT2694062	hsa-miR-3152-3p	CLIP-seq
MIRT2694063	hsa-miR-3160-5p	CLIP-seq
MIRT2649671	hsa-miR-3163	CLIP-seq
MIRT2694064	hsa-miR-3165	CLIP-seq
MIRT2649673	hsa-miR-3166	CLIP-seq
MIRT2694065	hsa-miR-3188	CLIP-seq
MIRT2694066	hsa-miR-3189-3p	CLIP-seq
MIRT2649674	hsa-miR-3194-5p	CLIP-seq
MIRT2649675	hsa-miR-3202	CLIP-seq
MIRT2649677	hsa-miR-3620	CLIP-seq
MIRT2649678	hsa-miR-362-5p	CLIP-seq
MIRT2694067	hsa-miR-3648	CLIP-seq
MIRT2694068	hsa-miR-3650	CLIP-seq
MIRT2649679	hsa-miR-3662	CLIP-seq
MIRT2694069	hsa-miR-3669	CLIP-seq
MIRT2694070	hsa-miR-371-5p	CLIP-seq
MIRT2694071	hsa-miR-371b-5p	CLIP-seq
MIRT2649680	hsa-miR-3921	CLIP-seq
MIRT2649681	hsa-miR-3942-3p	CLIP-seq
MIRT2649682	hsa-miR-3945	CLIP-seq
MIRT2694072	hsa-miR-3973	CLIP-seq
MIRT2694073	hsa-miR-3975	CLIP-seq
MIRT2694074	hsa-miR-409-5p	CLIP-seq
MIRT2649683	hsa-miR-4253	CLIP-seq
MIRT2649684	hsa-miR-4265	CLIP-seq
MIRT2694075	hsa-miR-4278	CLIP-seq
MIRT2649685	hsa-miR-4296	CLIP-seq
MIRT2649686	hsa-miR-431	CLIP-seq
MIRT2649687	hsa-miR-4322	CLIP-seq
MIRT2694076	hsa-miR-4326	CLIP-seq
MIRT2649688	hsa-miR-4417	CLIP-seq
MIRT2649689	hsa-miR-4422	CLIP-seq
MIRT2649690	hsa-miR-4427	CLIP-seq
MIRT2649691	hsa-miR-4435	CLIP-seq
MIRT2649692	hsa-miR-4446-5p	CLIP-seq
MIRT2649693	hsa-miR-4481	CLIP-seq
MIRT2649694	hsa-miR-4533	CLIP-seq
MIRT2649695	hsa-miR-455-3p	CLIP-seq
MIRT2649696	hsa-miR-4653-5p	CLIP-seq
MIRT2649697	hsa-miR-4666-5p	CLIP-seq
MIRT2649698	hsa-miR-4680-3p	CLIP-seq
MIRT2694077	hsa-miR-4688	CLIP-seq
MIRT2649699	hsa-miR-4711-3p	CLIP-seq
MIRT2649700	hsa-miR-4720-5p	CLIP-seq
MIRT2649701	hsa-miR-4738-3p	CLIP-seq
MIRT2649702	hsa-miR-4745-5p	CLIP-seq
MIRT2649703	hsa-miR-4755-5p	CLIP-seq
MIRT2649704	hsa-miR-4758-5p	CLIP-seq
MIRT2649705	hsa-miR-4768-5p	CLIP-seq
MIRT2649706	hsa-miR-4790-3p	CLIP-seq
MIRT2649707	hsa-miR-4799-3p	CLIP-seq
MIRT1451362	hsa-miR-4802-3p	CLIP-seq
MIRT2694078	hsa-miR-485-5p	CLIP-seq
MIRT2649708	hsa-miR-494	CLIP-seq
MIRT2649709	hsa-miR-500b	CLIP-seq
MIRT2649710	hsa-miR-501-5p	CLIP-seq
MIRT2694079	hsa-miR-513c	CLIP-seq
MIRT2694080	hsa-miR-514b-5p	CLIP-seq
MIRT2649711	hsa-miR-518a-3p	CLIP-seq
MIRT2649712	hsa-miR-518b	CLIP-seq
MIRT2649713	hsa-miR-518c	CLIP-seq
MIRT2649714	hsa-miR-518d-3p	CLIP-seq
MIRT2649715	hsa-miR-518e	CLIP-seq
MIRT2649716	hsa-miR-518f	CLIP-seq
MIRT2694081	hsa-miR-520g	CLIP-seq
MIRT2694082	hsa-miR-520h	CLIP-seq
MIRT2649717	hsa-miR-522	CLIP-seq
MIRT2649718	hsa-miR-542-3p	CLIP-seq
MIRT2694083	hsa-miR-548a-3p	CLIP-seq
MIRT2649719	hsa-miR-548al	CLIP-seq
MIRT2694084	hsa-miR-548e	CLIP-seq
MIRT2694085	hsa-miR-548f	CLIP-seq
MIRT2694086	hsa-miR-548l	CLIP-seq
MIRT2649720	hsa-miR-548m	CLIP-seq
MIRT2694087	hsa-miR-548n	CLIP-seq
MIRT2694088	hsa-miR-548t	CLIP-seq
MIRT2694089	hsa-miR-561	CLIP-seq
MIRT2694090	hsa-miR-576-3p	CLIP-seq
MIRT2649721	hsa-miR-604	CLIP-seq
MIRT2649722	hsa-miR-635	CLIP-seq
MIRT2649723	hsa-miR-642b	CLIP-seq
MIRT2649724	hsa-miR-647	CLIP-seq
MIRT2649727	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	15644324, 16630562, 18675823, 19135897, 19528298, 24995978, 27705803
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	19528298
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	15644324, 18675823, 19528298
GO:0005769	Component	Early endosome	IDA	18675823
GO:0005938	Component	Cell cortex	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0006493	Process	Protein O-linked glycosylation	ISS
GO:0006605	Process	Protein targeting	IBA	21873635
GO:0006605	Process	Protein targeting	ISS
GO:0008333	Process	Endosome to lysosome transport	IBA	21873635
GO:0008333	Process	Endosome to lysosome transport	IDA	18675823
GO:0017022	Function	Myosin binding	IBA	21873635
GO:0022008	Process	Neurogenesis	IBA	21873635
GO:0030425	Component	Dendrite	IBA	21873635
GO:0031410	Component	Cytoplasmic vesicle	IBA	21873635
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0047496	Process	Vesicle transport along microtubule	IBA	21873635
GO:0048311	Process	Mitochondrion distribution	IBA	21873635
GO:0050811	Function	GABA receptor binding	IBA	21873635
GO:0098957	Process	Anterograde axonal transport of mitochondrion	IBA	21873635
GO:1904115	Component	Axon cytoplasm	IEA

Other IDs

• MIM: 608112
• HGNC: 29947
• e!Ensembl: ENSG00000182606

Protein

• UniProt ID: Q9UPV9
• Protein name: Trafficking kinesin-binding protein 1 (106 kDa O-GlcNAc transferase-interacting protein) (Protein Milton)
• Protein function: Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors (PubMed:18675823). Involved in mitochondrial motility. When O-glycosylated, abolishes mitochondrial motili
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04849	HAP1_N	48 → 353	HAP1 N-terminal conserved region	Family
  PF12448	Milton	414 → 583	Kinesin associated protein	Family

• Tissue specificity: TISSUE SPECIFICITY: High expression in spinal cord and moderate expression in all other tissues and specific brain regions examined. Expressed in all cell lines examined. {ECO:0000269|PubMed:18986759}.
• Sequence:

  MALVFQFGQPVRAQPLPGLCHGKLIRTNACDVCNSTDLPEVEIISLLEEQLPHYKLRADT
  IYGYDHDDWLHTPLISPDANIDLTTEQIEETLKYFLLCAERVGQMTKTYNDIDAVTRLLE
  EKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTS
  AAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETIT
  YEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKA
  CAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTS
  RRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTP
  SPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDER
  SKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTP
  TESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGI
  LDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSAHHPGK
  CMSQTNSTFTFTTCRILHPSDELTRVTPSLNSAPTPACGSTSHLKSTPVATPCTPRRLSL
  AESFTNTRESTTTMSTSLGLVWLLKERGISAAVYDPQSWDRAGRGSLLHSYTPKMAVIPS
  TPPNSPMQTPTSSPPSFEFKCTSPPYDNFLASKPASSILREVREKNVRSSESQTDVSVSN
  LNLVDKVRRFGVAKVVNSGRAHVPTLTEEQGPLLCGPPGPAPALVPRGLVPEGLPLRCPT
  VTSAIGGLQLNSGIRRNRSFPTMVGSSMQMKAPVTLTSGILMGAKLSKQTSLR

• Sequence length: 953

Pathways

Reactome:

Signaling by BRAF and RAF fusions

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
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
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Encephalopathies, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	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	28940097, 29846532, 28364549
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21822266

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Metabolic Syndrome	Metabolic Syndrome			GWAS
Sarcoidosis	Sarcoidosis			GWAS
Heart Failure	Heart Failure			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	35205252
Brain Diseases	Associate	28364549
Brain Neoplasms	Associate	37399073
Colorectal Neoplasms	Associate	21999571
Developmental Disabilities	Associate	28364549
Epilepsy Absence	Associate	19837565
Glioma	Associate	37399073
Neoplasms	Associate	21999571
Urinary Bladder Neoplasms	Associate	28388658