KIF1A (kinesin family member 1A)

Gene

• Entrez ID: 547
• Gene name: Kinesin family member 1A
• Gene symbol: KIF1A
• Synonyms (NCBI Gene): ATSV, C2orf20, HSN2C, MRD9, NESCAVS, SPG30, SPG30A, SPG30B, UNC104
• Chromosome: 2
• Chromosome location: 2q37.3
• Summary: The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and h

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs10594016	TCCTCCTCCTCCTCCTCC>-,TCC,TCCTCC,TCCTCCTCC,TCCTCCTCCTCC,TCCTCCTCCTCCTCC,TCCTCCTCCTCCTCCTCCTCC,TCCTCCTCCTCCTCCTCCTCCTCC,TCCTCCTCCTCCTCCTCCTCCTCCTCC	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, inframe insertion, inframe deletion, coding sequence variant
rs140783695	G>C	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs141441058	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs143037290	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs143815273	C>T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs144520412	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, synonymous variant
rs186881889	C>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs190997558	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs199996308	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs200149062	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200511467	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201742042	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs201825284	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201861261	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs368078424	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs369692236	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs370286749	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs371252476	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs387906798	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906799	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907259	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs548204329	G>A,T	Uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs587778791	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778798	->G	Pathogenic	Coding sequence variant, frameshift variant
rs672601362	G>A	Pathogenic	Missense variant, coding sequence variant
rs672601363	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs672601364	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs672601365	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs672601366	C>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs672601367	T>G	Pathogenic	Missense variant, coding sequence variant
rs672601368	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs672601369	C>T	Pathogenic	Missense variant, coding sequence variant
rs672601370	G>A	Pathogenic	Missense variant, coding sequence variant
rs672601371	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs748477031	G>A	Pathogenic	Coding sequence variant, stop gained
rs749718096	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs751051049	A>G,T	Likely-pathogenic	Splice donor variant
rs751977290	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs758111969	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs775915390	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs778224699	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs786200949	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797045050	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797045164	G>A	Pathogenic	Coding sequence variant, missense variant
rs797045655	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs869312711	A>C	Pathogenic	Coding sequence variant, missense variant
rs876661168	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs876661180	T>G	Pathogenic	Coding sequence variant, missense variant
rs876661202	G>C	Pathogenic	Coding sequence variant, missense variant
rs876661283	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs879253888	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs879253991	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs879253998	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs879254004	T>C	Pathogenic	Coding sequence variant, missense variant
rs879254017	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs879254106	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs886041692	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1057518226	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518760	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519164	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519240	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064793161	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1064794935	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1064795534	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064796046	->CGT	Pathogenic	Coding sequence variant, inframe insertion
rs1064796565	C>T	Likely-pathogenic	Splice donor variant
rs1131690804	G>A	Pathogenic	Missense variant, coding sequence variant
rs1131692159	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1195594601	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1200817308	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1327297188	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs1553624714	C>G	Likely-pathogenic	Splice donor variant
rs1553633687	C>G	Likely-pathogenic	Splice donor variant
rs1553633823	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553635398	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553637932	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1553638309	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553638614	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553638655	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553639011	T>G	Pathogenic	Coding sequence variant, missense variant
rs1553639041	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559477798	T>C	Likely-pathogenic	Splice acceptor variant
rs1559526692	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559527796	C>T	Likely-pathogenic	Splice acceptor variant
rs1575514086	G>A	Pathogenic	Stop gained, coding sequence variant
rs1575600733	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1575624664	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1575631836	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1575637048	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1575654528	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051327	hsa-miR-15a-5p	CLASH	23622248
MIRT051041	hsa-miR-17-5p	CLASH	23622248
MIRT049281	hsa-miR-92a-3p	CLASH	23622248
MIRT045783	hsa-miR-9-5p	CLASH	23622248
MIRT045431	hsa-miR-149-5p	CLASH	23622248
MIRT042597	hsa-miR-423-3p	CLASH	23622248
MIRT039561	hsa-miR-652-3p	CLASH	23622248
MIRT038023	hsa-miR-423-5p	CLASH	23622248
MIRT440374	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT440374	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT1093496	hsa-miR-101	CLIP-seq
MIRT1093497	hsa-miR-103a	CLIP-seq
MIRT1093498	hsa-miR-107	CLIP-seq
MIRT1093499	hsa-miR-1197	CLIP-seq
MIRT1093500	hsa-miR-1207-5p	CLIP-seq
MIRT1093501	hsa-miR-1231	CLIP-seq
MIRT1093502	hsa-miR-1267	CLIP-seq
MIRT1093503	hsa-miR-1302	CLIP-seq
MIRT1093504	hsa-miR-1321	CLIP-seq
MIRT1093505	hsa-miR-15a	CLIP-seq
MIRT1093506	hsa-miR-15b	CLIP-seq
MIRT1093507	hsa-miR-16	CLIP-seq
MIRT1093508	hsa-miR-195	CLIP-seq
MIRT1093509	hsa-miR-296-3p	CLIP-seq
MIRT1093510	hsa-miR-3064-5p	CLIP-seq
MIRT1093511	hsa-miR-3120-5p	CLIP-seq
MIRT1093512	hsa-miR-3128	CLIP-seq
MIRT1093513	hsa-miR-3184	CLIP-seq
MIRT1093514	hsa-miR-342-5p	CLIP-seq
MIRT1093515	hsa-miR-361-3p	CLIP-seq
MIRT1093516	hsa-miR-3689a-3p	CLIP-seq
MIRT1093517	hsa-miR-3689c	CLIP-seq
MIRT1093518	hsa-miR-424	CLIP-seq
MIRT1093519	hsa-miR-4269	CLIP-seq
MIRT1093520	hsa-miR-4270	CLIP-seq
MIRT1093521	hsa-miR-4283	CLIP-seq
MIRT1093522	hsa-miR-4286	CLIP-seq
MIRT1093523	hsa-miR-4297	CLIP-seq
MIRT1093524	hsa-miR-4298	CLIP-seq
MIRT1093525	hsa-miR-4310	CLIP-seq
MIRT1093526	hsa-miR-4441	CLIP-seq
MIRT1093527	hsa-miR-4455	CLIP-seq
MIRT1093528	hsa-miR-4475	CLIP-seq
MIRT1093529	hsa-miR-4486	CLIP-seq
MIRT1093530	hsa-miR-4492	CLIP-seq
MIRT1093531	hsa-miR-4498	CLIP-seq
MIRT1093532	hsa-miR-4505	CLIP-seq
MIRT1093533	hsa-miR-4514	CLIP-seq
MIRT1093534	hsa-miR-4524	CLIP-seq
MIRT1093535	hsa-miR-4648	CLIP-seq
MIRT1093536	hsa-miR-4651	CLIP-seq
MIRT1093537	hsa-miR-4664-5p	CLIP-seq
MIRT1093538	hsa-miR-4667-5p	CLIP-seq
MIRT1093539	hsa-miR-4690-5p	CLIP-seq
MIRT1093540	hsa-miR-4692	CLIP-seq
MIRT1093541	hsa-miR-4700-5p	CLIP-seq
MIRT1093542	hsa-miR-4720-5p	CLIP-seq
MIRT1093543	hsa-miR-4722-5p	CLIP-seq
MIRT1093544	hsa-miR-4728-5p	CLIP-seq
MIRT1093545	hsa-miR-4736	CLIP-seq
MIRT1093546	hsa-miR-4739	CLIP-seq
MIRT1093547	hsa-miR-4742-5p	CLIP-seq
MIRT1093548	hsa-miR-4756-5p	CLIP-seq
MIRT1093549	hsa-miR-4761-5p	CLIP-seq
MIRT1093550	hsa-miR-4763-3p	CLIP-seq
MIRT1093551	hsa-miR-4768-3p	CLIP-seq
MIRT1093552	hsa-miR-4771	CLIP-seq
MIRT1093553	hsa-miR-4799-3p	CLIP-seq
MIRT1093554	hsa-miR-497	CLIP-seq
MIRT1093555	hsa-miR-499a-5p	CLIP-seq
MIRT1093556	hsa-miR-519a	CLIP-seq
MIRT1093557	hsa-miR-519b-3p	CLIP-seq
MIRT1093558	hsa-miR-519c-3p	CLIP-seq
MIRT1093559	hsa-miR-563	CLIP-seq
MIRT1093560	hsa-miR-608	CLIP-seq
MIRT1093561	hsa-miR-615-5p	CLIP-seq
MIRT1093562	hsa-miR-637	CLIP-seq
MIRT1093563	hsa-miR-642b	CLIP-seq
MIRT1093564	hsa-miR-760	CLIP-seq
MIRT1093565	hsa-miR-762	CLIP-seq
MIRT1093500	hsa-miR-1207-5p	CLIP-seq
MIRT1093501	hsa-miR-1231	CLIP-seq
MIRT1093502	hsa-miR-1267	CLIP-seq
MIRT1093511	hsa-miR-3120-5p	CLIP-seq
MIRT1093512	hsa-miR-3128	CLIP-seq
MIRT1093513	hsa-miR-3184	CLIP-seq
MIRT1093521	hsa-miR-4283	CLIP-seq
MIRT1093529	hsa-miR-4486	CLIP-seq
MIRT1093530	hsa-miR-4492	CLIP-seq
MIRT1093531	hsa-miR-4498	CLIP-seq
MIRT1093532	hsa-miR-4505	CLIP-seq
MIRT1093542	hsa-miR-4720-5p	CLIP-seq
MIRT1093543	hsa-miR-4722-5p	CLIP-seq
MIRT1093545	hsa-miR-4736	CLIP-seq
MIRT1093550	hsa-miR-4763-3p	CLIP-seq
MIRT1093551	hsa-miR-4768-3p	CLIP-seq
MIRT1093553	hsa-miR-4799-3p	CLIP-seq
MIRT1093564	hsa-miR-760	CLIP-seq
MIRT1093565	hsa-miR-762	CLIP-seq
MIRT2025074	hsa-miR-1275	CLIP-seq
MIRT1093504	hsa-miR-1321	CLIP-seq
MIRT1093505	hsa-miR-15a	CLIP-seq
MIRT1093506	hsa-miR-15b	CLIP-seq
MIRT1093507	hsa-miR-16	CLIP-seq
MIRT1093508	hsa-miR-195	CLIP-seq
MIRT2025075	hsa-miR-346	CLIP-seq
MIRT1093518	hsa-miR-424	CLIP-seq
MIRT1093520	hsa-miR-4270	CLIP-seq
MIRT1093526	hsa-miR-4441	CLIP-seq
MIRT1093534	hsa-miR-4524	CLIP-seq
MIRT2025076	hsa-miR-4665-5p	CLIP-seq
MIRT1093539	hsa-miR-4690-5p	CLIP-seq
MIRT2025077	hsa-miR-4691-3p	CLIP-seq
MIRT2025078	hsa-miR-4720-3p	CLIP-seq
MIRT1093544	hsa-miR-4728-5p	CLIP-seq
MIRT1093546	hsa-miR-4739	CLIP-seq
MIRT1093548	hsa-miR-4756-5p	CLIP-seq
MIRT2025079	hsa-miR-4796-5p	CLIP-seq
MIRT2025080	hsa-miR-4804-3p	CLIP-seq
MIRT1093554	hsa-miR-497	CLIP-seq
MIRT1093496	hsa-miR-101	CLIP-seq
MIRT2256172	hsa-miR-10a	CLIP-seq
MIRT2256173	hsa-miR-10b	CLIP-seq
MIRT2256174	hsa-miR-1184	CLIP-seq
MIRT2256175	hsa-miR-1203	CLIP-seq
MIRT2256176	hsa-miR-1207-3p	CLIP-seq
MIRT1093500	hsa-miR-1207-5p	CLIP-seq
MIRT2256177	hsa-miR-122	CLIP-seq
MIRT1093501	hsa-miR-1231	CLIP-seq
MIRT2256178	hsa-miR-1234	CLIP-seq
MIRT2256179	hsa-miR-1245b-5p	CLIP-seq
MIRT2256180	hsa-miR-1254	CLIP-seq
MIRT2256181	hsa-miR-1255a	CLIP-seq
MIRT2256182	hsa-miR-1255b	CLIP-seq
MIRT2256183	hsa-miR-125a-3p	CLIP-seq
MIRT2256184	hsa-miR-1264	CLIP-seq
MIRT1093502	hsa-miR-1267	CLIP-seq
MIRT2256185	hsa-miR-1268	CLIP-seq
MIRT2256186	hsa-miR-1268b	CLIP-seq
MIRT2256187	hsa-miR-1269	CLIP-seq
MIRT2256188	hsa-miR-1269b	CLIP-seq
MIRT2256189	hsa-miR-1271	CLIP-seq
MIRT2256190	hsa-miR-1273f	CLIP-seq
MIRT2256191	hsa-miR-1290	CLIP-seq
MIRT2256192	hsa-miR-1291	CLIP-seq
MIRT2256193	hsa-miR-1292	CLIP-seq
MIRT1093504	hsa-miR-1321	CLIP-seq
MIRT2256194	hsa-miR-1343	CLIP-seq
MIRT2256195	hsa-miR-136	CLIP-seq
MIRT2256196	hsa-miR-138	CLIP-seq
MIRT2256197	hsa-miR-141	CLIP-seq
MIRT2256198	hsa-miR-142-5p	CLIP-seq
MIRT2256199	hsa-miR-146b-3p	CLIP-seq
MIRT2256200	hsa-miR-150	CLIP-seq
MIRT2256201	hsa-miR-1587	CLIP-seq
MIRT2256202	hsa-miR-184	CLIP-seq
MIRT2256203	hsa-miR-188-3p	CLIP-seq
MIRT2256204	hsa-miR-1913	CLIP-seq
MIRT2256205	hsa-miR-1914	CLIP-seq
MIRT2256206	hsa-miR-193a-3p	CLIP-seq
MIRT2256207	hsa-miR-193b	CLIP-seq
MIRT2256208	hsa-miR-1972	CLIP-seq
MIRT2256209	hsa-miR-200a	CLIP-seq
MIRT2256210	hsa-miR-2276	CLIP-seq
MIRT2256211	hsa-miR-2467-5p	CLIP-seq
MIRT2256212	hsa-miR-2861	CLIP-seq
MIRT1093509	hsa-miR-296-3p	CLIP-seq
MIRT2256213	hsa-miR-296-5p	CLIP-seq
MIRT2256214	hsa-miR-299-3p	CLIP-seq
MIRT2256215	hsa-miR-302a	CLIP-seq
MIRT2256216	hsa-miR-302b	CLIP-seq
MIRT2256217	hsa-miR-302c	CLIP-seq
MIRT2256218	hsa-miR-302d	CLIP-seq
MIRT2256219	hsa-miR-302e	CLIP-seq
MIRT2256220	hsa-miR-3074-5p	CLIP-seq
MIRT2256221	hsa-miR-3116	CLIP-seq
MIRT1093511	hsa-miR-3120-5p	CLIP-seq
MIRT2256222	hsa-miR-3125	CLIP-seq
MIRT2256223	hsa-miR-3127-5p	CLIP-seq
MIRT1093512	hsa-miR-3128	CLIP-seq
MIRT2256224	hsa-miR-3129-3p	CLIP-seq
MIRT2256225	hsa-miR-3130-3p	CLIP-seq
MIRT2256226	hsa-miR-3135	CLIP-seq
MIRT2256227	hsa-miR-3136-3p	CLIP-seq
MIRT2256228	hsa-miR-3142	CLIP-seq
MIRT2256229	hsa-miR-3144-5p	CLIP-seq
MIRT2256230	hsa-miR-3150a-3p	CLIP-seq
MIRT2256231	hsa-miR-3158-3p	CLIP-seq
MIRT2256232	hsa-miR-3170	CLIP-seq
MIRT2256233	hsa-miR-3173-5p	CLIP-seq
MIRT2256234	hsa-miR-3175	CLIP-seq
MIRT2256235	hsa-miR-3176	CLIP-seq
MIRT1093513	hsa-miR-3184	CLIP-seq
MIRT2256236	hsa-miR-3188	CLIP-seq
MIRT2256237	hsa-miR-3191	CLIP-seq
MIRT2256238	hsa-miR-3192	CLIP-seq
MIRT2256239	hsa-miR-3194-5p	CLIP-seq
MIRT2256240	hsa-miR-3199	CLIP-seq
MIRT2256241	hsa-miR-3200-5p	CLIP-seq
MIRT2256242	hsa-miR-324-3p	CLIP-seq
MIRT2256243	hsa-miR-324-5p	CLIP-seq
MIRT2256244	hsa-miR-328	CLIP-seq
MIRT2256245	hsa-miR-331-3p	CLIP-seq
MIRT2256246	hsa-miR-338-3p	CLIP-seq
MIRT2256247	hsa-miR-340	CLIP-seq
MIRT1093514	hsa-miR-342-5p	CLIP-seq
MIRT2256248	hsa-miR-3605-5p	CLIP-seq
MIRT2256249	hsa-miR-3612	CLIP-seq
MIRT1093515	hsa-miR-361-3p	CLIP-seq
MIRT2256250	hsa-miR-3615	CLIP-seq
MIRT2256251	hsa-miR-3617	CLIP-seq
MIRT2256252	hsa-miR-3622a-5p	CLIP-seq
MIRT2256253	hsa-miR-3622b-5p	CLIP-seq
MIRT2256254	hsa-miR-3657	CLIP-seq
MIRT2256255	hsa-miR-3665	CLIP-seq
MIRT2256256	hsa-miR-3667-3p	CLIP-seq
MIRT2256257	hsa-miR-3670	CLIP-seq
MIRT2256258	hsa-miR-3677-3p	CLIP-seq
MIRT2256259	hsa-miR-3679-3p	CLIP-seq
MIRT2256260	hsa-miR-3688-5p	CLIP-seq
MIRT1093516	hsa-miR-3689a-3p	CLIP-seq
MIRT1093517	hsa-miR-3689c	CLIP-seq
MIRT2256261	hsa-miR-3714	CLIP-seq
MIRT2256262	hsa-miR-372	CLIP-seq
MIRT2256263	hsa-miR-373	CLIP-seq
MIRT2256264	hsa-miR-3916	CLIP-seq
MIRT2256265	hsa-miR-3917	CLIP-seq
MIRT2256266	hsa-miR-3921	CLIP-seq
MIRT2256267	hsa-miR-3922-3p	CLIP-seq
MIRT2256268	hsa-miR-3940-3p	CLIP-seq
MIRT2256269	hsa-miR-3943	CLIP-seq
MIRT2256270	hsa-miR-3975	CLIP-seq
MIRT2256271	hsa-miR-4254	CLIP-seq
MIRT2256272	hsa-miR-4257	CLIP-seq
MIRT2256273	hsa-miR-4264	CLIP-seq
MIRT2256274	hsa-miR-4267	CLIP-seq
MIRT1093520	hsa-miR-4270	CLIP-seq
MIRT1093521	hsa-miR-4283	CLIP-seq
MIRT1093522	hsa-miR-4286	CLIP-seq
MIRT2256275	hsa-miR-4292	CLIP-seq
MIRT2256276	hsa-miR-4300	CLIP-seq
MIRT2256277	hsa-miR-4303	CLIP-seq
MIRT1093525	hsa-miR-4310	CLIP-seq
MIRT2256278	hsa-miR-4313	CLIP-seq
MIRT2256279	hsa-miR-4314	CLIP-seq
MIRT2256280	hsa-miR-4317	CLIP-seq
MIRT2256281	hsa-miR-4323	CLIP-seq
MIRT2256282	hsa-miR-4330	CLIP-seq
MIRT2256283	hsa-miR-4417	CLIP-seq
MIRT2256284	hsa-miR-4418	CLIP-seq
MIRT2256285	hsa-miR-4419a	CLIP-seq
MIRT2256286	hsa-miR-4422	CLIP-seq
MIRT2256287	hsa-miR-4423-3p	CLIP-seq
MIRT2256288	hsa-miR-4427	CLIP-seq
MIRT2256289	hsa-miR-4436a	CLIP-seq
MIRT2256290	hsa-miR-4440	CLIP-seq
MIRT1093526	hsa-miR-4441	CLIP-seq
MIRT2256291	hsa-miR-4443	CLIP-seq
MIRT2256292	hsa-miR-4446-3p	CLIP-seq
MIRT2256293	hsa-miR-4459	CLIP-seq
MIRT2256294	hsa-miR-4462	CLIP-seq
MIRT2256295	hsa-miR-4471	CLIP-seq
MIRT2256296	hsa-miR-4476	CLIP-seq
MIRT2256297	hsa-miR-4491	CLIP-seq
MIRT1093530	hsa-miR-4492	CLIP-seq
MIRT1093531	hsa-miR-4498	CLIP-seq
MIRT1093532	hsa-miR-4505	CLIP-seq
MIRT2256298	hsa-miR-4510	CLIP-seq
MIRT2256299	hsa-miR-4511	CLIP-seq
MIRT1093533	hsa-miR-4514	CLIP-seq
MIRT2256300	hsa-miR-4520a-3p	CLIP-seq
MIRT2256301	hsa-miR-4520b-3p	CLIP-seq
MIRT2256302	hsa-miR-4529-3p	CLIP-seq
MIRT2256303	hsa-miR-4637	CLIP-seq
MIRT2256304	hsa-miR-4639-3p	CLIP-seq
MIRT2256305	hsa-miR-4640-3p	CLIP-seq
MIRT2256306	hsa-miR-4645-5p	CLIP-seq
MIRT2256307	hsa-miR-4646-5p	CLIP-seq
MIRT1093535	hsa-miR-4648	CLIP-seq
MIRT2256308	hsa-miR-4649-3p	CLIP-seq
MIRT1093536	hsa-miR-4651	CLIP-seq
MIRT2256309	hsa-miR-4653-5p	CLIP-seq
MIRT2256310	hsa-miR-4656	CLIP-seq
MIRT2256311	hsa-miR-4657	CLIP-seq
MIRT1093537	hsa-miR-4664-5p	CLIP-seq
MIRT1093538	hsa-miR-4667-5p	CLIP-seq
MIRT2256312	hsa-miR-4673	CLIP-seq
MIRT2256313	hsa-miR-4675	CLIP-seq
MIRT2256314	hsa-miR-4680-3p	CLIP-seq
MIRT2256315	hsa-miR-4685-5p	CLIP-seq
MIRT2256316	hsa-miR-4687-5p	CLIP-seq
MIRT2256317	hsa-miR-4688	CLIP-seq
MIRT2025077	hsa-miR-4691-3p	CLIP-seq
MIRT1093540	hsa-miR-4692	CLIP-seq
MIRT2256318	hsa-miR-4695-5p	CLIP-seq
MIRT2256319	hsa-miR-4696	CLIP-seq
MIRT2256320	hsa-miR-4700-3p	CLIP-seq
MIRT1093541	hsa-miR-4700-5p	CLIP-seq
MIRT2256321	hsa-miR-4707-5p	CLIP-seq
MIRT2256322	hsa-miR-4713-5p	CLIP-seq
MIRT2256323	hsa-miR-4717-5p	CLIP-seq
MIRT2025078	hsa-miR-4720-3p	CLIP-seq
MIRT1093542	hsa-miR-4720-5p	CLIP-seq
MIRT2256324	hsa-miR-4722-3p	CLIP-seq
MIRT1093543	hsa-miR-4722-5p	CLIP-seq
MIRT1093544	hsa-miR-4728-5p	CLIP-seq
MIRT2256325	hsa-miR-4729	CLIP-seq
MIRT2256326	hsa-miR-4731-5p	CLIP-seq
MIRT2256327	hsa-miR-4733-5p	CLIP-seq
MIRT1093545	hsa-miR-4736	CLIP-seq
MIRT1093546	hsa-miR-4739	CLIP-seq
MIRT2256328	hsa-miR-4741	CLIP-seq
MIRT1093548	hsa-miR-4756-5p	CLIP-seq
MIRT2256329	hsa-miR-4757-5p	CLIP-seq
MIRT1093550	hsa-miR-4763-3p	CLIP-seq
MIRT2256330	hsa-miR-4763-5p	CLIP-seq
MIRT1093551	hsa-miR-4768-3p	CLIP-seq
MIRT2256331	hsa-miR-4772-3p	CLIP-seq
MIRT2256332	hsa-miR-4789-3p	CLIP-seq
MIRT2256333	hsa-miR-4793-3p	CLIP-seq
MIRT2025079	hsa-miR-4796-5p	CLIP-seq
MIRT2256334	hsa-miR-4797-3p	CLIP-seq
MIRT1093553	hsa-miR-4799-3p	CLIP-seq
MIRT2025080	hsa-miR-4804-3p	CLIP-seq
MIRT2256335	hsa-miR-483-3p	CLIP-seq
MIRT2256336	hsa-miR-485-5p	CLIP-seq
MIRT2256337	hsa-miR-490-3p	CLIP-seq
MIRT2256338	hsa-miR-508-5p	CLIP-seq
MIRT2256339	hsa-miR-509-3-5p	CLIP-seq
MIRT2256340	hsa-miR-5095	CLIP-seq
MIRT2256341	hsa-miR-509-5p	CLIP-seq
MIRT2256342	hsa-miR-512-3p	CLIP-seq
MIRT1093556	hsa-miR-519a	CLIP-seq
MIRT1093557	hsa-miR-519b-3p	CLIP-seq
MIRT1093558	hsa-miR-519c-3p	CLIP-seq
MIRT2256343	hsa-miR-520a-3p	CLIP-seq
MIRT2256344	hsa-miR-520a-5p	CLIP-seq
MIRT2256345	hsa-miR-520b	CLIP-seq
MIRT2256346	hsa-miR-520c-3p	CLIP-seq
MIRT2256347	hsa-miR-520d-3p	CLIP-seq
MIRT2256348	hsa-miR-520e	CLIP-seq
MIRT2256349	hsa-miR-525-5p	CLIP-seq
MIRT2256350	hsa-miR-532-3p	CLIP-seq
MIRT2256351	hsa-miR-542-3p	CLIP-seq
MIRT2256352	hsa-miR-544	CLIP-seq
MIRT2256353	hsa-miR-551a	CLIP-seq
MIRT2256354	hsa-miR-551b	CLIP-seq
MIRT1093559	hsa-miR-563	CLIP-seq
MIRT2256355	hsa-miR-574-5p	CLIP-seq
MIRT2256356	hsa-miR-585	CLIP-seq
MIRT2256357	hsa-miR-590-3p	CLIP-seq
MIRT2256358	hsa-miR-593	CLIP-seq
MIRT2256359	hsa-miR-604	CLIP-seq
MIRT2256360	hsa-miR-606	CLIP-seq
MIRT1093560	hsa-miR-608	CLIP-seq
MIRT1093561	hsa-miR-615-5p	CLIP-seq
MIRT2256361	hsa-miR-626	CLIP-seq
MIRT1093562	hsa-miR-637	CLIP-seq
MIRT2256362	hsa-miR-641	CLIP-seq
MIRT2256363	hsa-miR-644	CLIP-seq
MIRT2256364	hsa-miR-647	CLIP-seq
MIRT2256365	hsa-miR-648	CLIP-seq
MIRT2256366	hsa-miR-649	CLIP-seq
MIRT2256367	hsa-miR-650	CLIP-seq
MIRT2256368	hsa-miR-656	CLIP-seq
MIRT2256369	hsa-miR-661	CLIP-seq
MIRT2256370	hsa-miR-663b	CLIP-seq
MIRT2256371	hsa-miR-665	CLIP-seq
MIRT2256372	hsa-miR-668	CLIP-seq
MIRT2256373	hsa-miR-711	CLIP-seq
MIRT1093564	hsa-miR-760	CLIP-seq
MIRT1093565	hsa-miR-762	CLIP-seq
MIRT2256374	hsa-miR-764	CLIP-seq
MIRT2256375	hsa-miR-874	CLIP-seq
MIRT2256376	hsa-miR-876-3p	CLIP-seq
MIRT2256377	hsa-miR-885-3p	CLIP-seq
MIRT2256378	hsa-miR-920	CLIP-seq
MIRT2256379	hsa-miR-938	CLIP-seq
MIRT2256380	hsa-miR-939	CLIP-seq
MIRT2256381	hsa-miR-940	CLIP-seq
MIRT2256382	hsa-miR-944	CLIP-seq
MIRT2256383	hsa-miR-96	CLIP-seq
MIRT1093497	hsa-miR-103a	CLIP-seq
MIRT1093498	hsa-miR-107	CLIP-seq
MIRT1093561	hsa-miR-615-5p	CLIP-seq
MIRT2256193	hsa-miR-1292	CLIP-seq
MIRT2256199	hsa-miR-146b-3p	CLIP-seq
MIRT2256204	hsa-miR-1913	CLIP-seq
MIRT2452580	hsa-miR-1915	CLIP-seq
MIRT2452581	hsa-miR-2682	CLIP-seq
MIRT2256233	hsa-miR-3173-5p	CLIP-seq
MIRT2256242	hsa-miR-324-3p	CLIP-seq
MIRT1093519	hsa-miR-4269	CLIP-seq
MIRT2256275	hsa-miR-4292	CLIP-seq
MIRT2256287	hsa-miR-4423-3p	CLIP-seq
MIRT2256295	hsa-miR-4471	CLIP-seq
MIRT2452582	hsa-miR-449c	CLIP-seq
MIRT2256306	hsa-miR-4645-5p	CLIP-seq
MIRT2256307	hsa-miR-4646-5p	CLIP-seq
MIRT2452583	hsa-miR-4660	CLIP-seq
MIRT2256312	hsa-miR-4673	CLIP-seq
MIRT2452584	hsa-miR-4726-3p	CLIP-seq
MIRT2256375	hsa-miR-874	CLIP-seq
MIRT2256381	hsa-miR-940	CLIP-seq
MIRT2452580	hsa-miR-1915	CLIP-seq
MIRT2452581	hsa-miR-2682	CLIP-seq
MIRT1093519	hsa-miR-4269	CLIP-seq
MIRT2256287	hsa-miR-4423-3p	CLIP-seq
MIRT2452582	hsa-miR-449c	CLIP-seq
MIRT2256306	hsa-miR-4645-5p	CLIP-seq
MIRT2452583	hsa-miR-4660	CLIP-seq
MIRT2256312	hsa-miR-4673	CLIP-seq
MIRT2452584	hsa-miR-4726-3p	CLIP-seq
MIRT2256381	hsa-miR-940	CLIP-seq
MIRT2452580	hsa-miR-1915	CLIP-seq
MIRT2452581	hsa-miR-2682	CLIP-seq
MIRT1093519	hsa-miR-4269	CLIP-seq
MIRT2256287	hsa-miR-4423-3p	CLIP-seq
MIRT2452582	hsa-miR-449c	CLIP-seq
MIRT2256306	hsa-miR-4645-5p	CLIP-seq
MIRT2452583	hsa-miR-4660	CLIP-seq
MIRT2256312	hsa-miR-4673	CLIP-seq
MIRT2452584	hsa-miR-4726-3p	CLIP-seq
MIRT2256381	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003774	Function	Cytoskeletal motor activity	TAS	7539720
GO:0003777	Function	Microtubule motor activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IBA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008089	Process	Anterograde axonal transport	TAS	7539720
GO:0008574	Function	Plus-end-directed microtubule motor activity	IBA
GO:0008574	Function	Plus-end-directed microtubule motor activity	ISS
GO:0010970	Process	Transport along microtubule	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042802	Function	Identical protein binding	IPI	22863567
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060998	Process	Regulation of dendritic spine development	ISS
GO:0061001	Process	Regulation of dendritic spine morphogenesis	ISS
GO:0098992	Component	Neuronal dense core vesicle	ISS
GO:0099012	Component	Neuronal dense core vesicle membrane	IEA
GO:0099519	Process	Dense core granule cytoskeletal transport	ISS
GO:1904115	Component	Axon cytoplasm	IEA
GO:1990048	Process	Anterograde neuronal dense core vesicle transport	ISS
GO:1990049	Process	Retrograde neuronal dense core vesicle transport	IBA
GO:1990049	Process	Retrograde neuronal dense core vesicle transport	ISS

Other IDs

• MIM: 601255
• HGNC: 888
• e!Ensembl: ENSG00000130294

Protein

• UniProt ID: Q12756
• Protein name: Kinesin-like protein KIF1A (EC 5.6.1.3) (Axonal transporter of synaptic vesicles) (Microtubule-based motor KIF1A) (Unc-104- and KIF1A-related protein) (hUnc-104)
• Protein function: Kinesin motor with a plus-end-directed microtubule motor activity (By similarity). It is required for anterograde axonal transport of synaptic vesicle precursors (PubMed:33880452). Also required for neuronal dense core vesicles (DCVs) transport
• PDB: 4EGX, 4EJQ, 4UXO, 4UXP, 4UXR, 4UXS, 8UTN, 8UTO, 8UTP, 8UTQ, 8UTR, 8UTS, 8UTT, 8UTU, 8UTV, 8UTW, 8UTY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00225	Kinesin	11 → 354	Kinesin motor domain	Domain
  PF16183	Kinesin_assoc	358 → 515	Kinesin-associated	Family
  PF00498	FHA	516 → 587	FHA domain	Family
  PF12423	KIF1B	805 → 851	Kinesin protein 1B	Family
  PF12473	DUF3694	1149 → 1296	Kinesin protein	Family
  PF00169	PH	1576 → 1673	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neurons. {ECO:0000269|PubMed:21376300}.
• Sequence:

  MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHT
  SPEDINYASQKQVYRDIGEEMLQHAFEGYNVCIFAYGQTGAGKSYTMMGKQEKDQQGIIP
  QLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
  LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEK
  VSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEMDSGPNKNKKKKK
  TDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
  NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSL
  HERILFAPGSEEAIERLKETEKIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDG
  GTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEH
  CVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQA
  RQERERTPCAETPAEPVDWAFAQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLL
  EQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAFRKWKWYQFT
  SLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPF
  PRTIVAVEVQDQKNGATHYWTLEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPF
  YDRFPWFRLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQAISADEEAPDYG
  SGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEV
  NNNTCSAVPPEGLLLDSSEKAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIF
  CQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKSQPIVFEVFGHY
  QQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPVPATKLSTLTRPCPGPCHCKYDLLVYFE
  ICELEANGDYIPAVVDHRGGMPCMGTFLLHQGIQRRITVTLLHETGSHIRWKEVRELVVG
  RIRNTPETDESLIDPNILSLNILSSGYIHPAQDDRTFYQFEAAWDSSMHNSLLLNRVTPY
  REKIYMTLSAYIEMENCTQPAVVTKDFCMVFYSRDAKLPASRSIRNLFGSGSLRASESNR
  VTGVYELSLCHVADAGSPGMQRRRRRVLDTSVAYVRGEENLAGWRPRSDSLILDHQWELE
  KLSLLQEVEKTRHYLLLREKLETAQRPVPEALSPAFSEDSESHGSSSASSPLSAEGRPSP
  LEAPNERQRELAVKCLRLLTHTFNREYTHSHVCVSASESKLSEMSVTLLRDPSMSPLGVA
  TLTPSSTCPSLVEGRYGATDLRTPQPCSRPASPEPELLPEADSKKLPSPARATETDKEPQ
  RLLVPDIQEIRVSPIVSKKGYLHFLEPHTSGWARRFVVVRRPYAYMYNSDKDTVERFVLN
  LATAQVEYSEDQQAMLKTPNTFAVCTEHRGILLQAASDKDMHDWLYAFNPLLAGTIRSKL
  SRRRSAQMRV

• Sequence length: 1690

Pathways

KEGG:

Motor proteins

Reactome:

COPI-dependent Golgi-to-ER retrograde traffic
Kinesins

<

Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Hereditary motor and sensory neuropathy	Neuropathy, hereditary sensory, type 2C	rs587778791, rs587778798	N/A
Hereditary sensory and autonomic neuropathy	Neuropathy, hereditary sensory and autonomic, type 2A	rs587778791, rs587778798, rs672601370	N/A
Hereditary spastic paraplegia	Hereditary spastic paraplegia 30, Hereditary spastic paraplegia	rs1553638086, rs672601362, rs548204329, rs672601369, rs786200949, rs797045655, rs1575654528, rs387907259, rs672601367, rs1131690804, rs1575624664, rs886041692, rs1575631836, rs672601365, rs797045164, rs1575637048, rs1057518760, rs1575600733, rs2050749062, rs1064793161, rs797045050, rs572662012, rs1064795534	N/A
Mental retardation	Intellectual disability, autosomal dominant 9	rs797045655, rs1064793161, rs1553638086, rs387906799, rs2054280202, rs672601371, rs1064794935, rs672601367, rs1575654528, rs869312711, rs1131690804, rs876661168, rs672601368, rs879253888, rs672601366, rs797045164, rs672601365, rs886041692, rs1131692159, rs369692236, rs672601364, rs672601370, rs1553638614, rs672601363, rs797045050, rs672601362, rs672601369	N/A
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	rs1553638614	N/A
PEHO Syndrome	peho syndrome	rs387906799, rs672601368, rs797045164	N/A
Spastic Paraplegia	spastic paraplegia	rs797045050	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth disease type 2	N/A	N/A	ClinVar
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Corpus Callosum	Associate	28970574
Alcoholic Neuropathy	Associate	28834584
Alopecia	Associate	32758128
Amyotrophic Lateral Sclerosis	Associate	30778698, 37849306
Angina Unstable	Associate	31796088
Anodontia	Associate	39519162
Ataxia	Associate	36233161
Atrophy	Associate	36305856
Autism Spectrum Disorder	Associate	28834584
Autistic Disorder	Associate	31813911
Brain Diseases	Associate	37239332
Breast Neoplasms	Associate	19228724, 24927296, 28754978
Cerebellar Diseases	Associate	28362824, 31796088, 35326432, 36233161, 37239332
Cerebellar Hypoplasia	Associate	36305856
Charcot Marie Tooth Disease	Associate	35132656
Colorectal Neoplasms	Associate	34373442
Dependent Personality Disorder	Associate	37239332
Developmental Disabilities	Associate	28970574, 32652677, 38105687
Disease Progression	Associate	37239332
Dystonic Disorders	Associate	32746806
Edema	Associate	37239332
Epilepsy	Associate	28970574, 31813911, 38105687
Gait Disorders Neurologic	Associate	38105687
Glioma	Associate	36837615
Hereditary Sensory and Autonomic Neuropathies	Associate	21820098, 22258533, 26410750, 28834584, 31488895, 35132656, 37239332
Heredodegenerative Disorders Nervous System	Associate	38105687
Hyperkinesis	Associate	31813911
Hypoparathyroidism	Associate	39519162
Hypoxia Ischemia Brain	Associate	38545656
Intellectual Disability	Associate	28970574, 31813911, 32746806
Iron Deficiencies	Associate	36233161
Isobutyryl CoA dehydrogenase deficiency	Associate	32652677
Language Development Disorders	Associate	28970574
Leukoencephalopathies	Associate	28970574
Malformations of Cortical Development	Associate	36233161
Mental Retardation X Linked 9	Associate	31488895, 37239332
Microcephaly	Associate	28970574
Microphthalmia Syndromic 10	Associate	37239332
Muscle Spasticity	Associate	28834584
Nasopharyngeal Carcinoma	Associate	20473931
Neoplasms	Associate	19228724, 20592015, 20798208, 22694820, 23125005, 36837615
Neoplasms	Inhibit	20162572
Neoplastic Syndromes Hereditary	Associate	21487076, 25585697, 26410750
Nerve Degeneration	Associate	22258533
Nervous System Diseases	Associate	27034427, 33931448, 35132656
Neuroblastoma	Associate	18980998
Neurodegenerative Diseases	Associate	26410750, 28970574, 32045731, 32652677, 33931448, 36598948
Neurologic Manifestations	Associate	28834584, 32652677
Optic Atrophy	Associate	28970574, 37239332
Paraplegia	Associate	25585697, 27034427, 28362824, 28834584, 31488895, 31813911, 32746806, 35132656
Parathyroid Diseases	Associate	39519162
PEHO syndrome	Associate	37239332
Rett Syndrome	Associate	31512412, 32652677, 37239332
Seizures	Associate	23073310
Sensation Disorders	Associate	31813911
Spasms Infantile	Associate	31394400, 37239332
Spastic Ataxia	Associate	28362824
Spastic ataxia Charlevoix Saguenay type	Associate	28362824
Spastic paraplegia 10 autosomal dominant	Associate	31488895, 32746806, 37239332
Spastic Paraplegia 30 Autosomal Recessive	Associate	31488895, 31796088, 32746806, 37239332
Spastic Paraplegia Hereditary	Associate	22258533, 27034427, 28834584, 28970574, 30778698, 31488895, 31796088, 32045731, 34983064, 36598948
Spastic paraplegia type 5A recessive	Associate	22258533
Spinocerebellar Ataxias	Associate	30778698
Spinocerebellar Degenerations	Associate	35326432
Squamous Cell Carcinoma of Head and Neck	Associate	20162572, 20473870, 28814981
Stomatognathic Diseases	Associate	39519162
Thyroid Neoplasms	Associate	22694820
Tooth Abnormalities	Associate	39519162
Tooth Eruption Ectopic	Associate	39519162
Vision Disorders	Associate	37239332