HTT (huntingtin)

Gene

• Entrez ID: 3064
• Gene name: Huntingtin
• Gene symbol: HTT
• Synonyms (NCBI Gene): HD, IT15, LOMARS
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: Huntingtin is a disease gene linked to Huntington`s disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34315806	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs768047421	C>T	Pathogenic	Coding sequence variant, missense variant
rs1060505027	G>A	Uncertain-significance, pathogenic	Splice donor variant
rs1060505028	T>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030052	hsa-miR-26b-5p	Microarray	19088304
MIRT052338	hsa-let-7b-5p	CLASH	23622248
MIRT051257	hsa-miR-16-5p	CLASH	23622248
MIRT050823	hsa-miR-17-5p	CLASH	23622248
MIRT044299	hsa-miR-106b-5p	CLASH	23622248
MIRT043119	hsa-miR-324-5p	CLASH	23622248
MIRT039425	hsa-miR-421	CLASH	23622248
MIRT1057398	hsa-miR-103a	CLIP-seq
MIRT1057399	hsa-miR-107	CLIP-seq
MIRT1057400	hsa-miR-1178	CLIP-seq
MIRT1057401	hsa-miR-1200	CLIP-seq
MIRT1057402	hsa-miR-1205	CLIP-seq
MIRT1057403	hsa-miR-1224-3p	CLIP-seq
MIRT1057404	hsa-miR-1253	CLIP-seq
MIRT1057405	hsa-miR-1254	CLIP-seq
MIRT1057406	hsa-miR-1257	CLIP-seq
MIRT1057407	hsa-miR-1260	CLIP-seq
MIRT1057408	hsa-miR-1260b	CLIP-seq
MIRT1057409	hsa-miR-1267	CLIP-seq
MIRT1057410	hsa-miR-128	CLIP-seq
MIRT1057411	hsa-miR-1280	CLIP-seq
MIRT1057412	hsa-miR-1286	CLIP-seq
MIRT1057413	hsa-miR-1296	CLIP-seq
MIRT1057414	hsa-miR-1301	CLIP-seq
MIRT1057415	hsa-miR-138	CLIP-seq
MIRT1057416	hsa-miR-147b	CLIP-seq
MIRT1057417	hsa-miR-149	CLIP-seq
MIRT1057418	hsa-miR-150	CLIP-seq
MIRT1057419	hsa-miR-151-5p	CLIP-seq
MIRT1057420	hsa-miR-151b	CLIP-seq
MIRT1057421	hsa-miR-191	CLIP-seq
MIRT1057422	hsa-miR-1972	CLIP-seq
MIRT1057423	hsa-miR-199a-5p	CLIP-seq
MIRT1057424	hsa-miR-199b-5p	CLIP-seq
MIRT1057425	hsa-miR-217	CLIP-seq
MIRT1057426	hsa-miR-22	CLIP-seq
MIRT1057427	hsa-miR-2355-5p	CLIP-seq
MIRT1057428	hsa-miR-23a	CLIP-seq
MIRT1057429	hsa-miR-23b	CLIP-seq
MIRT1057430	hsa-miR-23c	CLIP-seq
MIRT1057431	hsa-miR-27a	CLIP-seq
MIRT1057432	hsa-miR-27b	CLIP-seq
MIRT1057433	hsa-miR-2909	CLIP-seq
MIRT1057434	hsa-miR-299-3p	CLIP-seq
MIRT1057435	hsa-miR-300	CLIP-seq
MIRT1057436	hsa-miR-3064-3p	CLIP-seq
MIRT1057437	hsa-miR-3116	CLIP-seq
MIRT1057438	hsa-miR-3147	CLIP-seq
MIRT1057439	hsa-miR-3153	CLIP-seq
MIRT1057440	hsa-miR-3154	CLIP-seq
MIRT1057441	hsa-miR-3184	CLIP-seq
MIRT1057442	hsa-miR-320e	CLIP-seq
MIRT1057443	hsa-miR-3611	CLIP-seq
MIRT1057444	hsa-miR-3656	CLIP-seq
MIRT1057445	hsa-miR-3664-3p	CLIP-seq
MIRT1057446	hsa-miR-3689a-3p	CLIP-seq
MIRT1057447	hsa-miR-3689c	CLIP-seq
MIRT1057448	hsa-miR-381	CLIP-seq
MIRT1057449	hsa-miR-3907	CLIP-seq
MIRT1057450	hsa-miR-3918	CLIP-seq
MIRT1057451	hsa-miR-423-3p	CLIP-seq
MIRT1057452	hsa-miR-423-5p	CLIP-seq
MIRT1057453	hsa-miR-4251	CLIP-seq
MIRT1057454	hsa-miR-4255	CLIP-seq
MIRT1057455	hsa-miR-4265	CLIP-seq
MIRT1057456	hsa-miR-4270	CLIP-seq
MIRT1057457	hsa-miR-4296	CLIP-seq
MIRT1057458	hsa-miR-4300	CLIP-seq
MIRT1057459	hsa-miR-4304	CLIP-seq
MIRT1057460	hsa-miR-4311	CLIP-seq
MIRT1057461	hsa-miR-4322	CLIP-seq
MIRT1057462	hsa-miR-4324	CLIP-seq
MIRT1057463	hsa-miR-4417	CLIP-seq
MIRT1057464	hsa-miR-4418	CLIP-seq
MIRT1057465	hsa-miR-4423-5p	CLIP-seq
MIRT1057466	hsa-miR-4425	CLIP-seq
MIRT1057467	hsa-miR-4433	CLIP-seq
MIRT1057468	hsa-miR-4436b-3p	CLIP-seq
MIRT1057469	hsa-miR-4441	CLIP-seq
MIRT1057470	hsa-miR-4446-5p	CLIP-seq
MIRT1057471	hsa-miR-4456	CLIP-seq
MIRT1057472	hsa-miR-4459	CLIP-seq
MIRT1057473	hsa-miR-4487	CLIP-seq
MIRT1057474	hsa-miR-4491	CLIP-seq
MIRT1057475	hsa-miR-4512	CLIP-seq
MIRT1057476	hsa-miR-4632	CLIP-seq
MIRT1057477	hsa-miR-4657	CLIP-seq
MIRT1057478	hsa-miR-4668-5p	CLIP-seq
MIRT1057479	hsa-miR-4700-3p	CLIP-seq
MIRT1057480	hsa-miR-4704-3p	CLIP-seq
MIRT1057481	hsa-miR-4713-5p	CLIP-seq
MIRT1057482	hsa-miR-4721	CLIP-seq
MIRT1057483	hsa-miR-4722-5p	CLIP-seq
MIRT1057484	hsa-miR-4733-3p	CLIP-seq
MIRT1057485	hsa-miR-4761-3p	CLIP-seq
MIRT1057486	hsa-miR-4764-5p	CLIP-seq
MIRT1057487	hsa-miR-4768-3p	CLIP-seq
MIRT1057488	hsa-miR-4775	CLIP-seq
MIRT1057489	hsa-miR-4779	CLIP-seq
MIRT1057490	hsa-miR-5047	CLIP-seq
MIRT1057491	hsa-miR-509-3-5p	CLIP-seq
MIRT1057492	hsa-miR-509-5p	CLIP-seq
MIRT1057493	hsa-miR-532-3p	CLIP-seq
MIRT1057494	hsa-miR-541	CLIP-seq
MIRT1057495	hsa-miR-544b	CLIP-seq
MIRT1057496	hsa-miR-548v	CLIP-seq
MIRT1057497	hsa-miR-596	CLIP-seq
MIRT1057498	hsa-miR-654-5p	CLIP-seq
MIRT1057499	hsa-miR-661	CLIP-seq
MIRT1057500	hsa-miR-671-5p	CLIP-seq
MIRT1057501	hsa-miR-765	CLIP-seq
MIRT1057502	hsa-miR-767-3p	CLIP-seq
MIRT1057503	hsa-miR-920	CLIP-seq
MIRT1057402	hsa-miR-1205	CLIP-seq
MIRT2013119	hsa-miR-1207-3p	CLIP-seq
MIRT1057405	hsa-miR-1254	CLIP-seq
MIRT2013120	hsa-miR-1276	CLIP-seq
MIRT1057410	hsa-miR-128	CLIP-seq
MIRT2013121	hsa-miR-146b-3p	CLIP-seq
MIRT1057418	hsa-miR-150	CLIP-seq
MIRT2013122	hsa-miR-181a	CLIP-seq
MIRT2013123	hsa-miR-181b	CLIP-seq
MIRT2013124	hsa-miR-181c	CLIP-seq
MIRT2013125	hsa-miR-181d	CLIP-seq
MIRT2013126	hsa-miR-204	CLIP-seq
MIRT2013127	hsa-miR-211	CLIP-seq
MIRT2013128	hsa-miR-2467-3p	CLIP-seq
MIRT1057431	hsa-miR-27a	CLIP-seq
MIRT1057432	hsa-miR-27b	CLIP-seq
MIRT1057437	hsa-miR-3116	CLIP-seq
MIRT2013129	hsa-miR-3122	CLIP-seq
MIRT1057439	hsa-miR-3153	CLIP-seq
MIRT2013130	hsa-miR-3158-5p	CLIP-seq
MIRT2013131	hsa-miR-3173-5p	CLIP-seq
MIRT1057441	hsa-miR-3184	CLIP-seq
MIRT2013132	hsa-miR-370	CLIP-seq
MIRT2013133	hsa-miR-3913-5p	CLIP-seq
MIRT1057452	hsa-miR-423-5p	CLIP-seq
MIRT2013134	hsa-miR-4257	CLIP-seq
MIRT2013135	hsa-miR-4262	CLIP-seq
MIRT2013136	hsa-miR-4267	CLIP-seq
MIRT2013137	hsa-miR-4283	CLIP-seq
MIRT2013138	hsa-miR-4287	CLIP-seq
MIRT2013139	hsa-miR-4330	CLIP-seq
MIRT2013140	hsa-miR-4436b-5p	CLIP-seq
MIRT2013141	hsa-miR-4462	CLIP-seq
MIRT2013142	hsa-miR-4645-3p	CLIP-seq
MIRT1057478	hsa-miR-4668-5p	CLIP-seq
MIRT2013143	hsa-miR-4685-3p	CLIP-seq
MIRT1057480	hsa-miR-4704-3p	CLIP-seq
MIRT2013144	hsa-miR-4717-3p	CLIP-seq
MIRT2013145	hsa-miR-4732-3p	CLIP-seq
MIRT1057486	hsa-miR-4764-5p	CLIP-seq
MIRT1057489	hsa-miR-4779	CLIP-seq
MIRT2013146	hsa-miR-485-5p	CLIP-seq
MIRT2013147	hsa-miR-495	CLIP-seq
MIRT2013148	hsa-miR-516b	CLIP-seq
MIRT2013149	hsa-miR-602	CLIP-seq
MIRT2013150	hsa-miR-662	CLIP-seq
MIRT1057501	hsa-miR-765	CLIP-seq
MIRT1057502	hsa-miR-767-3p	CLIP-seq
MIRT2013151	hsa-miR-874	CLIP-seq
MIRT2013152	hsa-miR-939	CLIP-seq
MIRT2245418	hsa-miR-10a	CLIP-seq
MIRT2245419	hsa-miR-10b	CLIP-seq
MIRT2245420	hsa-miR-1184	CLIP-seq
MIRT1057402	hsa-miR-1205	CLIP-seq
MIRT2245421	hsa-miR-1237	CLIP-seq
MIRT2245422	hsa-miR-1245b-5p	CLIP-seq
MIRT1057405	hsa-miR-1254	CLIP-seq
MIRT2245423	hsa-miR-125a-3p	CLIP-seq
MIRT2245424	hsa-miR-1275	CLIP-seq
MIRT1057410	hsa-miR-128	CLIP-seq
MIRT2245425	hsa-miR-1321	CLIP-seq
MIRT1057417	hsa-miR-149	CLIP-seq
MIRT2245426	hsa-miR-15a	CLIP-seq
MIRT2245427	hsa-miR-15b	CLIP-seq
MIRT2245428	hsa-miR-16	CLIP-seq
MIRT2013122	hsa-miR-181a	CLIP-seq
MIRT2013123	hsa-miR-181b	CLIP-seq
MIRT2013124	hsa-miR-181c	CLIP-seq
MIRT2013125	hsa-miR-181d	CLIP-seq
MIRT2245429	hsa-miR-190	CLIP-seq
MIRT2245430	hsa-miR-190b	CLIP-seq
MIRT1057421	hsa-miR-191	CLIP-seq
MIRT2245431	hsa-miR-195	CLIP-seq
MIRT2245432	hsa-miR-1976	CLIP-seq
MIRT2245433	hsa-miR-199a-3p	CLIP-seq
MIRT2245434	hsa-miR-199b-3p	CLIP-seq
MIRT2013126	hsa-miR-204	CLIP-seq
MIRT2013127	hsa-miR-211	CLIP-seq
MIRT2245435	hsa-miR-214	CLIP-seq
MIRT1057426	hsa-miR-22	CLIP-seq
MIRT1057428	hsa-miR-23a	CLIP-seq
MIRT1057429	hsa-miR-23b	CLIP-seq
MIRT1057430	hsa-miR-23c	CLIP-seq
MIRT2013128	hsa-miR-2467-3p	CLIP-seq
MIRT1057431	hsa-miR-27a	CLIP-seq
MIRT1057432	hsa-miR-27b	CLIP-seq
MIRT1057437	hsa-miR-3116	CLIP-seq
MIRT2245436	hsa-miR-3124-3p	CLIP-seq
MIRT2245437	hsa-miR-3128	CLIP-seq
MIRT2245438	hsa-miR-3129-5p	CLIP-seq
MIRT2245439	hsa-miR-3142	CLIP-seq
MIRT2245440	hsa-miR-3150a-3p	CLIP-seq
MIRT2013130	hsa-miR-3158-5p	CLIP-seq
MIRT2245441	hsa-miR-3160-3p	CLIP-seq
MIRT2245442	hsa-miR-3175	CLIP-seq
MIRT2245443	hsa-miR-3612	CLIP-seq
MIRT2245444	hsa-miR-3619-5p	CLIP-seq
MIRT2245445	hsa-miR-3650	CLIP-seq
MIRT1057444	hsa-miR-3656	CLIP-seq
MIRT2245446	hsa-miR-3661	CLIP-seq
MIRT1057445	hsa-miR-3664-3p	CLIP-seq
MIRT2245447	hsa-miR-3665	CLIP-seq
MIRT2245448	hsa-miR-3678-3p	CLIP-seq
MIRT2245449	hsa-miR-3691-3p	CLIP-seq
MIRT2245450	hsa-miR-371-5p	CLIP-seq
MIRT1057449	hsa-miR-3907	CLIP-seq
MIRT2245451	hsa-miR-3945	CLIP-seq
MIRT2245452	hsa-miR-424	CLIP-seq
MIRT2013135	hsa-miR-4262	CLIP-seq
MIRT2245453	hsa-miR-4271	CLIP-seq
MIRT2245454	hsa-miR-4277	CLIP-seq
MIRT2245455	hsa-miR-4282	CLIP-seq
MIRT1057464	hsa-miR-4418	CLIP-seq
MIRT1057465	hsa-miR-4423-5p	CLIP-seq
MIRT1057467	hsa-miR-4433	CLIP-seq
MIRT2245456	hsa-miR-4446-3p	CLIP-seq
MIRT1057472	hsa-miR-4459	CLIP-seq
MIRT1057475	hsa-miR-4512	CLIP-seq
MIRT2245457	hsa-miR-4514	CLIP-seq
MIRT2245458	hsa-miR-4525	CLIP-seq
MIRT2245459	hsa-miR-4530	CLIP-seq
MIRT2245460	hsa-miR-4650-5p	CLIP-seq
MIRT2245461	hsa-miR-4665-5p	CLIP-seq
MIRT2245462	hsa-miR-4668-3p	CLIP-seq
MIRT2245463	hsa-miR-4692	CLIP-seq
MIRT2245464	hsa-miR-4709-5p	CLIP-seq
MIRT2013144	hsa-miR-4717-3p	CLIP-seq
MIRT1057482	hsa-miR-4721	CLIP-seq
MIRT2245465	hsa-miR-4723-5p	CLIP-seq
MIRT2245466	hsa-miR-4725-3p	CLIP-seq
MIRT1057484	hsa-miR-4733-3p	CLIP-seq
MIRT2245467	hsa-miR-4736	CLIP-seq
MIRT2245468	hsa-miR-4739	CLIP-seq
MIRT2245469	hsa-miR-4755-5p	CLIP-seq
MIRT2245470	hsa-miR-4756-5p	CLIP-seq
MIRT2245471	hsa-miR-4760-3p	CLIP-seq
MIRT1057487	hsa-miR-4768-3p	CLIP-seq
MIRT2245472	hsa-miR-4772-3p	CLIP-seq
MIRT1057489	hsa-miR-4779	CLIP-seq
MIRT2245473	hsa-miR-4781-5p	CLIP-seq
MIRT2245474	hsa-miR-4802-5p	CLIP-seq
MIRT2013146	hsa-miR-485-5p	CLIP-seq
MIRT2245475	hsa-miR-490-3p	CLIP-seq
MIRT2245476	hsa-miR-490-5p	CLIP-seq
MIRT2245477	hsa-miR-491-5p	CLIP-seq
MIRT2245478	hsa-miR-497	CLIP-seq
MIRT2245479	hsa-miR-501-3p	CLIP-seq
MIRT2245480	hsa-miR-502-3p	CLIP-seq
MIRT1057491	hsa-miR-509-3-5p	CLIP-seq
MIRT1057492	hsa-miR-509-5p	CLIP-seq
MIRT2245481	hsa-miR-544	CLIP-seq
MIRT2013149	hsa-miR-602	CLIP-seq
MIRT2245482	hsa-miR-623	CLIP-seq
MIRT2245483	hsa-miR-625	CLIP-seq
MIRT2245484	hsa-miR-631	CLIP-seq
MIRT2245485	hsa-miR-634	CLIP-seq
MIRT2245486	hsa-miR-650	CLIP-seq
MIRT1057499	hsa-miR-661	CLIP-seq
MIRT2245487	hsa-miR-761	CLIP-seq
MIRT1057501	hsa-miR-765	CLIP-seq
MIRT2245488	hsa-miR-9	CLIP-seq
MIRT2245489	hsa-miR-922	CLIP-seq
MIRT2245490	hsa-miR-936	CLIP-seq
MIRT2013152	hsa-miR-939	CLIP-seq
MIRT2245491	hsa-miR-940	CLIP-seq
MIRT2013119	hsa-miR-1207-3p	CLIP-seq
MIRT1057456	hsa-miR-4270	CLIP-seq
MIRT1057469	hsa-miR-4441	CLIP-seq
MIRT2389223	hsa-miR-885-3p	CLIP-seq
MIRT1057398	hsa-miR-103a	CLIP-seq
MIRT1057399	hsa-miR-107	CLIP-seq
MIRT2245426	hsa-miR-15a	CLIP-seq
MIRT2245427	hsa-miR-15b	CLIP-seq
MIRT2245428	hsa-miR-16	CLIP-seq
MIRT2245431	hsa-miR-195	CLIP-seq
MIRT2245432	hsa-miR-1976	CLIP-seq
MIRT2451484	hsa-miR-3160-5p	CLIP-seq
MIRT2013132	hsa-miR-370	CLIP-seq
MIRT2451485	hsa-miR-3940-3p	CLIP-seq
MIRT2451486	hsa-miR-3944-5p	CLIP-seq
MIRT2245452	hsa-miR-424	CLIP-seq
MIRT2451487	hsa-miR-4268	CLIP-seq
MIRT2451488	hsa-miR-4448	CLIP-seq
MIRT2451489	hsa-miR-4529-5p	CLIP-seq
MIRT2245478	hsa-miR-497	CLIP-seq
MIRT2465463	hsa-miR-1293	CLIP-seq
MIRT2465464	hsa-miR-4434	CLIP-seq
MIRT1057471	hsa-miR-4456	CLIP-seq
MIRT2465465	hsa-miR-4483	CLIP-seq
MIRT2465466	hsa-miR-4516	CLIP-seq
MIRT2465467	hsa-miR-4531	CLIP-seq
MIRT1057494	hsa-miR-541	CLIP-seq
MIRT1057498	hsa-miR-654-5p	CLIP-seq
MIRT1057398	hsa-miR-103a	CLIP-seq
MIRT1057399	hsa-miR-107	CLIP-seq
MIRT2548645	hsa-miR-1238	CLIP-seq
MIRT2245424	hsa-miR-1275	CLIP-seq
MIRT2013120	hsa-miR-1276	CLIP-seq
MIRT2548646	hsa-miR-1299	CLIP-seq
MIRT2245425	hsa-miR-1321	CLIP-seq
MIRT2548647	hsa-miR-1538	CLIP-seq
MIRT2245426	hsa-miR-15a	CLIP-seq
MIRT2245427	hsa-miR-15b	CLIP-seq
MIRT2245428	hsa-miR-16	CLIP-seq
MIRT2548648	hsa-miR-1915	CLIP-seq
MIRT2245431	hsa-miR-195	CLIP-seq
MIRT2245432	hsa-miR-1976	CLIP-seq
MIRT1057436	hsa-miR-3064-3p	CLIP-seq
MIRT2548649	hsa-miR-3065-3p	CLIP-seq
MIRT2548650	hsa-miR-3126-5p	CLIP-seq
MIRT2451484	hsa-miR-3160-5p	CLIP-seq
MIRT2548651	hsa-miR-3190	CLIP-seq
MIRT2548652	hsa-miR-3667-3p	CLIP-seq
MIRT2013132	hsa-miR-370	CLIP-seq
MIRT2548653	hsa-miR-3714	CLIP-seq
MIRT2548654	hsa-miR-3922-5p	CLIP-seq
MIRT2451485	hsa-miR-3940-3p	CLIP-seq
MIRT2451486	hsa-miR-3944-5p	CLIP-seq
MIRT2245452	hsa-miR-424	CLIP-seq
MIRT2451487	hsa-miR-4268	CLIP-seq
MIRT2245453	hsa-miR-4271	CLIP-seq
MIRT2548655	hsa-miR-4297	CLIP-seq
MIRT1057465	hsa-miR-4423-5p	CLIP-seq
MIRT2451488	hsa-miR-4448	CLIP-seq
MIRT2548656	hsa-miR-4453	CLIP-seq
MIRT1057472	hsa-miR-4459	CLIP-seq
MIRT2245458	hsa-miR-4525	CLIP-seq
MIRT2451489	hsa-miR-4529-5p	CLIP-seq
MIRT2548657	hsa-miR-4538	CLIP-seq
MIRT2245461	hsa-miR-4665-5p	CLIP-seq
MIRT2548658	hsa-miR-4695-5p	CLIP-seq
MIRT2013144	hsa-miR-4717-3p	CLIP-seq
MIRT2245465	hsa-miR-4723-5p	CLIP-seq
MIRT2245466	hsa-miR-4725-3p	CLIP-seq
MIRT2548659	hsa-miR-4726-3p	CLIP-seq
MIRT2548660	hsa-miR-4727-5p	CLIP-seq
MIRT2245468	hsa-miR-4739	CLIP-seq
MIRT2548661	hsa-miR-4745-3p	CLIP-seq
MIRT2548662	hsa-miR-4747-3p	CLIP-seq
MIRT2245470	hsa-miR-4756-5p	CLIP-seq
MIRT2548663	hsa-miR-4769-3p	CLIP-seq
MIRT2548664	hsa-miR-4782-5p	CLIP-seq
MIRT2548665	hsa-miR-4797-5p	CLIP-seq
MIRT2245478	hsa-miR-497	CLIP-seq
MIRT2548666	hsa-miR-513c	CLIP-seq
MIRT2548667	hsa-miR-514b-5p	CLIP-seq
MIRT2013148	hsa-miR-516b	CLIP-seq
MIRT2548668	hsa-miR-552	CLIP-seq
MIRT2245483	hsa-miR-625	CLIP-seq
MIRT2548669	hsa-miR-665	CLIP-seq
MIRT1057500	hsa-miR-671-5p	CLIP-seq
MIRT1057398	hsa-miR-103a	CLIP-seq
MIRT1057399	hsa-miR-107	CLIP-seq
MIRT2245424	hsa-miR-1275	CLIP-seq
MIRT2548646	hsa-miR-1299	CLIP-seq
MIRT2548647	hsa-miR-1538	CLIP-seq
MIRT2548648	hsa-miR-1915	CLIP-seq
MIRT2245432	hsa-miR-1976	CLIP-seq
MIRT2451484	hsa-miR-3160-5p	CLIP-seq
MIRT2548652	hsa-miR-3667-3p	CLIP-seq
MIRT2013132	hsa-miR-370	CLIP-seq
MIRT2451486	hsa-miR-3944-5p	CLIP-seq
MIRT2451487	hsa-miR-4268	CLIP-seq
MIRT2245453	hsa-miR-4271	CLIP-seq
MIRT2548655	hsa-miR-4297	CLIP-seq
MIRT1057465	hsa-miR-4423-5p	CLIP-seq
MIRT2451488	hsa-miR-4448	CLIP-seq
MIRT1057472	hsa-miR-4459	CLIP-seq
MIRT2245458	hsa-miR-4525	CLIP-seq
MIRT2245461	hsa-miR-4665-5p	CLIP-seq
MIRT2548658	hsa-miR-4695-5p	CLIP-seq
MIRT2013144	hsa-miR-4717-3p	CLIP-seq
MIRT2245465	hsa-miR-4723-5p	CLIP-seq
MIRT2245466	hsa-miR-4725-3p	CLIP-seq
MIRT2548659	hsa-miR-4726-3p	CLIP-seq
MIRT2548661	hsa-miR-4745-3p	CLIP-seq
MIRT2548662	hsa-miR-4747-3p	CLIP-seq
MIRT2548664	hsa-miR-4782-5p	CLIP-seq
MIRT2013148	hsa-miR-516b	CLIP-seq
MIRT2245483	hsa-miR-625	CLIP-seq
MIRT2548669	hsa-miR-665	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Activation	22399227
TFAP2A	Unknown	11483245

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	20696378
GO:0002039	Function	P53 binding	IPI	10823891
GO:0004721	Function	Phosphoprotein phosphatase activity	IMP	21562226
GO:0005515	Function	Protein binding	IPI	7477378, 9285789, 9668110, 9798945, 10823891, 12873381, 15383276, 15603740, 15654337, 16115810, 16169070, 16476778, 17161366, 17500595, 17548833, 17947297, 18192679, 18615096, 19240112, 19498170, 20417604, 20515468, 22119730, 22835334, 23275563, 23303669, 24705354, 25686248, 2595982
GO:0005522	Function	Profilin binding	IPI	18573880
GO:0005634	Component	Nucleus	IDA	12783847, 15654337, 17704510
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	17947297
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	7748555, 15064418, 15654337
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	17947297
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	16476778
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IDA	17704510
GO:0005776	Component	Autophagosome	IDA	17704510
GO:0005776	Component	Autophagosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	17704510
GO:0005794	Component	Golgi apparatus	IDA	15837803
GO:0005814	Component	Centriole	IDA	21985783
GO:0005829	Component	Cytosol	IDA	20515468
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	20515468
GO:0006915	Process	Apoptotic process	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007030	Process	Golgi organization	IMP	20515468
GO:0007417	Process	Central nervous system development	IBA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0016234	Component	Inclusion body	IMP	17947297
GO:0019900	Function	Kinase binding	IPI	25686248
GO:0022008	Process	Neurogenesis	IBA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IDA	7748555
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IDA	7748555
GO:0030659	Component	Cytoplasmic vesicle membrane	IDA	7748555
GO:0031072	Function	Heat shock protein binding	IPI	21909508
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031587	Process	Positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IDA	12873381
GO:0031648	Process	Protein destabilization	IMP	17947297
GO:0032991	Component	Protein-containing complex	IDA	18922795
GO:0032991	Component	Protein-containing complex	IMP	17947297
GO:0034452	Function	Dynactin binding	IPI	18922795
GO:0042297	Process	Vocal learning	IMP	26436900
GO:0042802	Function	Identical protein binding	IPI	19487684, 22119730, 22854022, 23275563, 25848931
GO:0043065	Process	Positive regulation of apoptotic process	IDA	17947297
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0044325	Function	Transmembrane transporter binding	IDA	12873381
GO:0045202	Component	Synapse	IEA
GO:0045505	Function	Dynein intermediate chain binding	IDA	20515468
GO:0045724	Process	Positive regulation of cilium assembly	IMP	21985783
GO:0047496	Process	Vesicle transport along microtubule	IBA
GO:0047496	Process	Vesicle transport along microtubule	IMP	20515468
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	17947297
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048487	Function	Beta-tubulin binding	IDA	11870213
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0099523	Component	Presynaptic cytosol	IDA	7748555
GO:0099524	Component	Postsynaptic cytosol	IDA	7748555
GO:1901526	Process	Positive regulation of mitophagy	IMP	25686248
GO:1904504	Process	Positive regulation of lipophagy	IMP	25686248
GO:1905289	Process	Regulation of CAMKK-AMPK signaling cascade	IBA
GO:1905289	Process	Regulation of CAMKK-AMPK signaling cascade	IMP	21768291
GO:1905291	Process	Positive regulation of CAMKK-AMPK signaling cascade	IMP	21768291
GO:1905337	Process	Positive regulation of aggrephagy	IMP	25686248
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	19240112

Other IDs

• MIM: 613004
• HGNC: 4851
• e!Ensembl: ENSG00000197386

Protein

• UniProt ID: P42858
• Protein name: Huntingtin (Huntington disease protein) (HD protein) [Cleaved into: Huntingtin, myristoylated N-terminal fragment]
• Protein function: [Huntingtin]: May play a role in microtubule-mediated transport or vesicle function.; [Huntingtin, myristoylated N-terminal fragment]: Promotes the formation of autophagic vesicles.
• PDB: 2LD0, 2LD2, 3IO4, 3IO6, 3IOR, 3IOT, 3IOU, 3IOV, 3IOW, 3LRH, 4FE8, 4FEB, 4FEC, 4FED, 4RAV, 6EZ8, 6N8C, 6RMH, 6X9O, 6YEJ, 7DXJ, 7DXK, 8R2O, 8SAH, 8VLX, 8W15
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12372	DUF3652	1513 → 1553	Huntingtin protein region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain cortex (at protein level). Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebe
• Sequence:

  MATLEKLMKAFESLKSFQQQQQQQQQQQQQQQQQQQQQPPPPPPPPPPPQLPQPPPQAQP
  LLPQPQPPPPPPPPPPGPAVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNSPE
  FQKLLGIAMELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNGAP
  RSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETLAAAVPKIMASFG
  NFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGLLV
  PVEDEHSTLLILGVLLTLRYLVPLLQQQVKDTSLKGSFGVTRKEMEVSPSAEQLVQVYEL
  TLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSGSI
  VELIAGGGSSCSPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGELAA
  SSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDILSHSSSQVSAV
  PSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQD
  EDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVDKFVLRDEATEPGDQE
  NKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSCVG
  AAVALHPESFFSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAILCGTLICSIL
  SRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLCSS
  SYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGL
  LKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQGQADPVVAVARDQSSV
  YLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRA
  LTFGCCEALCLLSTAFPVCIWSLGWHCGVPPLSASDESRKSCTVGMATMILTLLSSAWFP
  LDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALGDRALVPMVEQ
  LFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPLSP
  KKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKATHANYKVTLDLQNST
  EKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLF
  GTNLASQFDGLSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQ
  AEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTTTT
  CVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFF
  LVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPIVHDLFVLRGTNKADA
  GKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPMLAK
  QQMHIDSHEALGVLNTLFEILAPSSLRPVDMLLRSMFVTPNTMASVSTVQLWISGILAIL
  RVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEETF
  SRFLLQLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAAT
  RLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNHTDYRWWAEVQQTPKR
  HSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTWLI
  VNHIQDLISLSHEPPVQDFISAVHRNSAASGLFIQAIQSRCENLSTPTMLKKTLQCLEGI
  HLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQLPMEELNRIQ
  EYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWY
  VHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISGGQ
  KSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSLPT
  LARALAQYLVVVSKLPSHLHLPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAGLD
  CCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPERRTNTPKAIS
  EEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIISLA
  RLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFIYRINTLGWTS
  RTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPVAG
  NPAVSCLEQQPRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWDPV
  PSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDEEE
  EEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEV
  VRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPATCKAAAVLGMDKAVA
  EPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIAHC
  VNIHSQQHVLVMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEESTPSIIYHCALR
  GLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRTSD
  PNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGE
  FLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSCFF
  VSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEVVA
  APGSPYHRLLTCLRNVHKVTTC

• Sequence length: 3142

Pathways

KEGG:

Huntington disease
Pathways of neurodegeneration - multiple diseases

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Huntington disease	Likely pathogenic	rs71180116	RCV002251189
Lopes-Maciel-Rodan syndrome	Pathogenic	rs1060505028	RCV000477714

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs1316645974, rs2474078367	-
Adrenocortical carcinoma, hereditary	Benign	rs363125	RCV005925809
Cerebral palsy	Uncertain significance	rs1720799396	RCV001796568
Cervical cancer	Benign; Likely benign	rs193157701	RCV005921317
Cholangiocarcinoma	Benign; Likely benign	rs193157701, rs363125	RCV005921322 RCV005925813
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs362278	RCV005928064
Clear cell carcinoma of kidney	Uncertain significance; Likely benign; Benign	rs574794357, rs779366537, rs3025843	RCV005922850 RCV005925769 RCV005926286
Colorectal cancer	Benign; Likely benign	rs193157701, rs363125	RCV005921318 RCV005925812
Familial cancer of breast	Likely benign; Benign	rs369637161, rs193157701	RCV005924306 RCV005921315
Familial pancreatic carcinoma	Benign; Likely benign	rs362278, rs202150164	RCV005928060 RCV005925815
Gastric cancer	Benign; Likely benign	rs193157701	RCV005921319
Hepatocellular carcinoma	Benign	rs3025843	RCV005926285
HTT-related disorder	Likely benign; Benign	rs374106761, rs750833956, rs372373063, rs2475996083, rs2476248449, rs1462079991, rs2476223146, rs1718286986, rs2474051518, rs2474051692, rs1191805328, rs2475963347, rs2474099874, rs2474091596, rs2474067696, rs2476035779, rs2475938856, rs766308856, rs2474063280, rs2476256283, rs769961683, rs765774656, rs2474089940, rs2475891286, rs2476086460, rs2476129770, rs2475984769, rs368741323, rs1721671270, rs2474046119, rs1441720749, rs377408760	RCV003978803 RCV003893165 RCV003893282 RCV003896761 RCV003896842 RCV003921616 RCV003894012 RCV003894213 RCV003902222 RCV003906887 RCV003904318 RCV003904556 RCV003964581 RCV003899829 RCV003902070 RCV003912013 RCV003912136 RCV003892297 RCV003913822 RCV003913823 RCV003913991 RCV003914044 RCV003944125 RCV003952178 RCV003919456 RCV003914778 RCV003951500 RCV003942265 RCV003946863 RCV003944619 RCV003971461 RCV003967225
Lung cancer	Benign; Likely benign	rs193157701, rs3025843	RCV005921323 RCV005926289
Lymphoma	Benign; Likely benign	rs193157701, rs362278	RCV005921320 RCV005928062
Malignant lymphoma, large B-cell, diffuse	Benign	rs363125, rs362278	RCV005925811 RCV005928061
Malignant tumor of esophagus	Benign; Likely benign	rs193157701, rs770330348	RCV005921316 RCV005868593
Ovarian cancer	Benign	rs362278	RCV005928058
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs193157701	RCV005921321
Sarcoma	Benign; Likely benign	rs3025843, rs202150164	RCV005926287 RCV005925816
See cases	Benign	rs71180116	RCV002252400
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs3025843, rs201724113	RCV005926288 RCV005921110
Uterine carcinosarcoma	Benign	rs362278	RCV005928063
Uterine corpus endometrial carcinoma	Benign	rs3025843	RCV005926290
Uveal melanoma	Benign; Likely benign	rs201724113, rs363125, rs362278	RCV005921109 RCV005925810 RCV005928059

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	28400517
Abnormalities Drug Induced	Associate	29435951
Amyotrophic Lateral Sclerosis	Associate	33242422, 36285345
Anorexia	Associate	34856753
Antley Bixler Syndrome Phenotype	Associate	19621255
Anxiety	Associate	35604958
Ataxia	Associate	33228685
Atrophy	Associate	38447791
Bipolar Disorder	Associate	22832526
Brain Diseases	Associate	27870408, 29685790
Breast Neoplasms	Associate	17989880, 26980106
Bruxism	Associate	27329733
Bulbo Spinal Atrophy X Linked	Associate	21247881, 36585400
Capillary Malformation Arteriovenous Malformation	Associate	33517535
Carcinogenesis	Associate	28054945
Chediak Higashi Syndrome	Associate	26478006
Chorea	Associate	15548484, 33228685, 38447791, 38563088, 8133497
Cognition Disorders	Associate	19646924, 26958025, 29435951, 33228685, 39973381
Cognitive Dysfunction	Stimulate	40318118
Compulsive Personality Disorder	Associate	34856753
Death	Associate	24459296, 24751919, 26849111
Dementia	Associate	15548484
Depressive Disorder	Associate	15548484, 20360314, 28585930, 34856753, 35604958
Depressive Disorder Major	Associate	20360314
Developmental Disabilities	Associate	27329733, 31371571, 33432339
Drug Related Side Effects and Adverse Reactions	Associate	11606565, 11792860, 12062094, 15140195, 21779398, 22383888, 24828240, 25092318, 25294428, 26471164, 26673834, 27840125, 28972180, 34445125, 38189521
Drug Related Side Effects and Adverse Reactions	Stimulate	19338577
Dysbiosis	Associate	36291689
Dystonia	Associate	27329733
Edema	Associate	28972180
Epilepsy	Associate	27329733
Fetal Alcohol Spectrum Disorders	Associate	33517535
Frontotemporal Dementia	Associate	33242422, 36285345
Genetic Diseases Inborn	Associate	16452635, 24282292, 24981774, 29959348, 30933216, 37023937
Glioblastoma	Associate	25050814
Heart Diseases	Associate	30028085
Hematologic Neoplasms	Associate	9616134
Heredodegenerative Disorders Nervous System	Associate	23965969
Huntington Disease	Associate	10217265, 10434302, 10471702, 10537061, 10766906, 10770860, 11007801, 11106399, 11137014, 11245667, 11593450, 11792860, 11943195, 12091468, 12191472, 12200548, 12438470, 14506070, 14527999, 14617779, 14985437, 15040808, 15548484, 15832309, 16043692, 16202123, 16372906, 16492755, 16973623, 17276991, 17327906, 17403029, 17653262, 17687393, 17877635, 17952586, 17989880, 18073586, 18156153, 18386172, 18498421, 18855765, 19094060, 19118166, 19196932, 19249009, 19338577, 19361997, 19515365, 19621255, 19646924, 19710014, 19752198, 19796074, 20360314, 20710011, 20923788, 21028906, 21095568, 21247881, 21248742, 21257639, 21566141, 21585328, 21672921, 21755114, 21811303, 21887328, 21909428, 22008211, 22100810, 22110140, 22198539, 22235343, 22237433, 22359536, 22383888, 22387017, 22649062, 22741533, 22748967, 22773688, 22801429, 22891249, 22974690, 22990145, 22993450, 22996692, 23236391, 23319588, 23463025, 23481379, 23557875, 23595883, 23624566, 23644918, 23656494, 23720755, 23741403, 23853009, 23873212, 23887934, 23894380, 23965969, 23966247, 24038471, 24199621, 24274906, 24282292, 24314096, 24459107, 24459296, 24751919, 24921664, 25092318, 25275533, 25294428, 25330023, 25466405, 25505179, 25640796, 25656686, 25659157, 25726852, 25847392, 25928884, 25953777, 25992839, 25993131, 25995452, 26011179, 26079385, 26148071, 26198591, 26201449, 26218986, 26232222, 26320893, 26444025, 26496077, 26590344, 26636336, 26636579, 26652744, 26849111, 26850319, 26958025, 26980106, 27080129, 27098187, 27114501, 27170315, 27182645, 27288730, 27329733, 27346008, 27346013, 27346026, 27477323, 27479945, 27481337, 27678206, 27740685, 27840125, 27870408, 28000697, 28165127, 28172889, 28205498, 28238795, 28322270, 28400517, 28436437, 28508341, 28570578, 28601473, 28621522, 28632780, 28656686, 28701700, 28832564, 28937758, 28972180, 28973411, 28975278, 29125493, 29258536, 29264979, 29272284, 29282287, 29328442, 29342448, 29358329, 29403030, 29435951, 29627459, 29682858, 29684586, 29685790, 29743609, 29754822, 29791508, 29802276, 29804730, 29932473, 30010666, 30015953, 30028085, 30122542, 30149534, 30256717, 30332437, 30355486, 30538129, 30573872, 30658253, 30768638, 30811996, 30858393, 30863908, 31104771, 31110208, 31296921, 31326748, 31346086, 31358058, 31361762, 31371571, 31398342, 31491822, 31708117, 31712634, 31717806, 31814404, 31828084, 32067426, 32070434, 32087949, 32124191, 32127471, 32179492, 32182692, 32329133, 32424160, 32555394, 32592593, 32661355, 32668197, 32686867, 32696070, 32741964, 32761094, 32898862, 33049985, 33070471, 33096080, 33219289, 33228685, 33328328, 33432339, 33517535, 33606279, 33692166, 33789134, 33814456, 33874957, 33909994, 34073127, 34089719, 34180418, 34201610, 34239038, 34301881, 34445125, 34448021, 34473992, 34520257, 34536046, 34732320, 34850120, 34880419, 34936701, 34942093, 35082301, 35325614, 35379994, 35395816, 35604958, 35703323, 35759798, 35872525, 35946926, 35948542, 36040815, 36180805, 36262216, 36285345, 36293267, 36357392, 36434993, 36437609, 36585400, 36651994, 36658243, 36715614, 36863131, 36901739, 36902304, 36931390, 36971475, 37005488, 37062072, 37146135, 37501188, 37522694, 37651831, 37761821, 37761940, 37993517, 38003344, 38016971, 38141760, 38427495, 38447791, 38498709, 38563088, 38569398, 39174070, 39174523, 39284371, 39367331, 39923663, 40090627, 40258535, 40289673, 40336225, 7576661, 7668287, 7853373, 8133497, 8178825, 8521295, 8544189, 8659522, 8971113, 9108071, 9153618, 9489526, 9616134, 9647305, 9666478, 9792871
Huntington Disease	Stimulate	24587280
Huntington Disease	Inhibit	9660943
Hypothalamic hamartomas	Associate	33517535
Immunologic Deficiency Syndromes	Associate	33432339
Inflammation	Stimulate	24459107
Inflammation	Associate	27170315, 39923663
Lopes Gorlin syndrome	Associate	33432339
Machado Joseph Disease	Associate	23887934, 24972706
Maxillonasal dysplasia Binder type	Associate	29506378
Memory Disorders	Associate	26958025
Mental Disorders	Associate	15548484, 26958025, 35604958
Microphthalmia Syndromic 10	Associate	29272284
Midline granulomatosis	Associate	27329733
Mitochondrial Complex II Deficiency	Associate	16452635
Mitochondrial Diseases	Associate	16973623, 21257639, 22773688, 29871736, 32329133, 35946926
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	39174523
Mood Disorders	Associate	22832526
Mouth Neoplasms	Associate	28559546
Movement Disorders	Associate	15548484, 26849111
MPTP Poisoning	Associate	38447791
Muscle Spasticity	Associate	27329733
Myoclonic Epilepsies Progressive	Associate	21909428
Myopathy with Giant Abnormal Mitochondria	Associate	28972180
Myopia	Associate	27329733
Necrosis	Associate	27840125
Neoplasms	Associate	23741403, 26980106
Nerve Degeneration	Associate	10434302, 21257639, 23481379, 27080129, 28972180, 30149534, 31361762, 35325614, 39367331
Nerve Degeneration	Stimulate	12062094
Neuroacanthocytosis	Associate	39292690
Neurodegenerative Diseases	Associate	10537061, 19529773, 22891249, 29435951, 31491822, 33228685, 33568689, 34586830, 35703323, 37816304, 38128014
Neurotoxicity Syndromes	Associate	19710014, 29627459, 30149534, 31814404
Osteogenesis imperfecta type 1A	Associate	32067426
Parkinson Disease	Associate	25330023, 28656686
Pediatric acute onset neuropsychiatric syndrome	Associate	35604958
Periventricular Nodular Heterotopia	Associate	33517535
Phobia Social	Associate	34856753
Proteostasis Deficiencies	Associate	40318118
Psychological Trauma	Associate	34856753
Psychotic Disorders	Associate	15548484
Renal Insufficiency	Associate	39174523
Respiratory Insufficiency	Associate	16973623
Retrograde Degeneration	Associate	28813079
Rett Syndrome	Associate	27329733
Spinocerebellar Ataxia 12	Associate	32124191
Spinocerebellar Ataxias	Associate	21909428
Squamous Cell Carcinoma of Head and Neck	Associate	28559546
Striatonigral degeneration infantile	Associate	33606279
Testicular Neoplasms	Associate	31712634
Urea Cycle Disorders Inborn	Stimulate	25992839