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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant non-syndromic intellectual disability	Likely pathogenic; Pathogenic	rs1553638614	RCV004584738	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clonus	Likely pathogenic; Pathogenic	rs1057518760	RCV000414911	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs672601370, rs786200949, rs797045655, rs548204329, rs1131690804, rs1553638086	RCV001847781 RCV000167867 RCV001847866 RCV000515907 RCV001848859 RCV001848939	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia 30	Likely pathogenic; Pathogenic	rs2054374864, rs2126062809, rs2126071766, rs2125598333, rs369692236, rs780380861, rs919187835, rs2125597503, rs2126054169, rs879253888, rs2056552812, rs2125889990, rs2126049633, rs2125976585, rs1553638086, rs2125890780, rs1318848388, rs2125976529, rs2125925871, rs2125791006, rs672601362, rs762126771, rs672601370, rs672601369, rs672601367, rs672601365, rs786200949, rs1469297168, rs2045066309, rs113158271, rs2536680543, rs2538437589, rs797045164, rs797045050, rs797045655, rs2538439290, rs387906798, rs2538277599, rs2537300033, rs2537539083, rs2537729498, rs876661283, rs2538309429, rs2126091776, rs886041692, rs2052419658, rs2537957328, rs2538259164, rs2537867758, rs2538654464, rs2536614499, rs2054279545, rs2536723934, rs2537927812, rs2126054153, rs2538309390, rs1057518226, rs1057518760, rs1057519240, rs387906799, rs1064793161, rs1064796565, rs1064795534, rs548204329, rs1064794935, rs1131690804, rs1553639041, rs387907259, rs1553637932, rs751051049, rs1553624714, rs1553633687, rs1559477798, rs1559526692, rs1559527796, rs748477031, rs1575514086, rs1327297188, rs1575626071, rs1575654528, rs587778791, rs1575624664, rs1575631836, rs1575637048, rs1575600733, rs2056551129, rs2056562900, rs2050749062, rs572662012, rs2054755647, rs2054757914, rs2055181124, rs2125874950, rs2125976707, rs2125976763, rs2125976792, rs2126049787, rs201314877, rs2126062641, rs2126071436, rs2126147743, rs2052660081	RCV001322987 RCV001647139 RCV001367455 RCV001936631 RCV001941826 RCV002002790 RCV001959730 RCV001975187 RCV001901167 RCV001971587 RCV002020498 RCV002007228 RCV002007375 RCV002035472 RCV002009303 RCV001951242 RCV001925834 RCV001968688 RCV002049624 RCV002026094 RCV002046792 RCV002003472 RCV000850514 RCV000850486 RCV003998180 RCV001391597 RCV000987077 RCV000693147 RCV002466344 RCV002627731 RCV002720108 RCV002710626 RCV002805730 RCV001255726 RCV000639795 RCV000818660 RCV002867284 RCV002877610 RCV003030819 RCV003014971 RCV003047779 RCV003065844 RCV001854764 RCV003152912 RCV003153103 RCV000763486 RCV000803981 RCV003320401 RCV003322680 RCV003779481 RCV003786174 RCV003792212 RCV003801574 RCV003808958 RCV003802462 RCV003815349 RCV003807591 RCV003883385 RCV003766154 RCV001251219 RCV003766169 RCV000690609 RCV000705000 RCV001851257 RCV000534578 RCV000639771 RCV001057550 RCV001391606 RCV003766801 RCV000548642 RCV000030681 RCV001860437 RCV000639797 RCV000639772 RCV000639768 RCV000696128 RCV000703669 RCV000696483 RCV000689516 RCV000823153 RCV000823204 RCV000799366 RCV000801438 RCV000810861 RCV000639798 RCV000987074 RCV000987075 RCV000987076 RCV000995794 RCV001071735 RCV001055134 RCV001078153 RCV001078154 RCV001251223 RCV001251220 RCV001251216 RCV001251232 RCV001255725 RCV005213512 RCV001391364 RCV001391363 RCV001391362 RCV001391604 RCV001391600 RCV001391599 RCV001391598 RCV001391595 RCV001391592 RCV001391591 RCV001301690 RCV001298157	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperreflexia	Likely pathogenic; Pathogenic	rs1057518760	RCV000414911	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 9	Likely pathogenic; Pathogenic	rs2054374864, rs2054277617, rs2126071766, rs2125794023, rs2126049991, rs2125598333, rs369692236, rs780380861, rs919187835, rs2125597503, rs2126054169, rs879253888, rs2056552812, rs2125889990, rs2126049633, rs2125976585, rs1553638086, rs2125890780, rs1318848388, rs2125976529, rs2125925871, rs2125791006, rs672601362, rs762126771, rs1064796565, rs2538258854, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs786200949, rs2045066309, rs113158271, rs2536680543, rs2538437589, rs672601368, rs797045164, rs797045050, rs797045655, rs2538439290, rs387906798, rs2538277599, rs2537300033, rs2537539083, rs2537729498, rs869312711, rs876661283, rs886041692, rs2047717398, rs2538259164, rs2537867758, rs2538654464, rs2536614499, rs2054279545, rs2536723934, rs2537927812, rs2126054153, rs2538309390, rs1057518226, rs1057518760, rs1057519240, rs387906799, rs1064793161, rs1064795534, rs548204329, rs1064794935, rs1131690804, rs1131692159, rs1553639041, rs1553638614, rs1553637932, rs751051049, rs1553624714, rs1553633687, rs1559477798, rs1559526692, rs1559527796, rs748477031, rs1575514086, rs1327297188, rs1575626071, rs1575654528, rs876661168, rs587778791, rs2056551129, rs2056562900, rs2054280202, rs2056558371, rs387907259, rs2052422975, rs2054752278, rs2054757914, rs2054763570, rs2054549834, rs2055064647, rs2125874950, rs2052660081	RCV001322987 RCV001334239 RCV001367455 RCV001775335 RCV001775436 RCV001936631 RCV001941826 RCV002002790 RCV001959730 RCV001975187 RCV001901167 RCV001971587 RCV002020498 RCV002007228 RCV002007375 RCV002286863 RCV002009303 RCV001951242 RCV001925834 RCV001968688 RCV002049624 RCV002026094 RCV002046792 RCV002003472 RCV002290203 RCV002292370 RCV000149482 RCV000149481 RCV000149483 RCV000149479 RCV000149478 RCV000149477 RCV000149476 RCV000149475 RCV000149474 RCV000693147 RCV002627731 RCV002720108 RCV002710626 RCV002805730 RCV000191021 RCV000191020 RCV000639795 RCV000195049 RCV002867284 RCV002877610 RCV003030819 RCV003014971 RCV003047779 RCV003065844 RCV000209842 RCV001854764 RCV000763486 RCV000803981 RCV003229527 RCV003779481 RCV003786174 RCV003792212 RCV003801574 RCV003808958 RCV003802462 RCV003815349 RCV003807591 RCV003883385 RCV003766154 RCV001861441 RCV003766169 RCV000023087 RCV000496175 RCV001851257 RCV000534578 RCV000639771 RCV001057550 RCV000492064 RCV000495842 RCV003766801 RCV000503727 RCV001078151 RCV000548642 RCV001860437 RCV000639797 RCV000639772 RCV000639768 RCV000696128 RCV000703669 RCV000696483 RCV000689516 RCV000823153 RCV000823204 RCV000799366 RCV000801438 RCV000810861 RCV000824681 RCV000639798 RCV001071735 RCV001055134 RCV001078155 RCV001089647 RCV001251159 RCV001879817 RCV001251231 RCV001251234 RCV001879816 RCV001251218 RCV001252532 RCV001264755 RCV004017814 RCV005213512 RCV001301690 RCV001298157	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KIF1A related neurological disorder	Likely pathogenic; Pathogenic	rs1064794935, rs1131690804	RCV004787796 RCV004787802	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KIF1A-related disorder	Pathogenic; Likely pathogenic	rs672601369, rs672601368, rs879253888, rs2538462644, rs2537142167, rs387906799, rs1064793161, rs587778791, rs1575637048	RCV005862999 RCV003223396 RCV004737388 RCV004531654 RCV004540922 RCV004541014 RCV004529605 RCV004537254 RCV004726754	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lower limb hyperreflexia	Likely pathogenic; Pathogenic	rs1057518760	RCV000414911	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs672601362	RCV002273964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuropathy, hereditary sensory and autonomic, type 2A	Pathogenic; Likely pathogenic	rs2126062571, rs672601370, rs879253888, rs2538309390, rs587778791, rs587778798	RCV002250075 RCV001197350 RCV000763486 RCV003883385 RCV000056104 RCV000056120	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuropathy, hereditary sensory, type 2C	Likely pathogenic; Pathogenic	rs2054374864, rs2126071766, rs2125598333, rs369692236, rs780380861, rs919187835, rs2125597503, rs2126054169, rs879253888, rs2056552812, rs2125889990, rs2126049633, rs2125976585, rs1553638086, rs2125890780, rs1318848388, rs2125976529, rs2125925871, rs2125791006, rs672601362, rs762126771, rs672601370, rs672601369, rs672601365, rs786200949, rs2045066309, rs113158271, rs2536680543, rs2538437589, rs797045164, rs797045050, rs797045655, rs2538439290, rs387906798, rs2538277599, rs2537300033, rs2537539083, rs2537729498, rs876661283, rs886041692, rs2538259164, rs2537867758, rs2538654464, rs2536614499, rs2054279545, rs2536723934, rs2537927812, rs2126054153, rs2538309390, rs1057518226, rs1057518760, rs1057519240, rs387906799, rs1064793161, rs1064796565, rs1064795534, rs548204329, rs1064794935, rs1131690804, rs1553639041, rs1553637932, rs751051049, rs1553624714, rs1553633687, rs1559477798, rs1559526692, rs1559527796, rs748477031, rs1575514086, rs1327297188, rs1575626071, rs1575654528, rs587778791, rs587778798, rs2056551129, rs2056562900, rs387907259, rs2054757914, rs2125874950, rs2052660081	RCV001322987 RCV001367455 RCV001936631 RCV001941826 RCV002002790 RCV001959730 RCV001975187 RCV001901167 RCV001971587 RCV002020498 RCV002007228 RCV002007375 RCV002035472 RCV002009303 RCV001951242 RCV001925834 RCV001968688 RCV002049624 RCV002026094 RCV002046792 RCV002003472 RCV000850514 RCV000850486 RCV001323710 RCV001386834 RCV000693147 RCV002627731 RCV002720108 RCV002710626 RCV002805730 RCV001389787 RCV000639795 RCV000818660 RCV002867284 RCV002877610 RCV003030819 RCV003014971 RCV003047779 RCV003065844 RCV001854764 RCV000763486 RCV000803981 RCV003779481 RCV003786174 RCV003792212 RCV003801574 RCV003808958 RCV003802462 RCV003815349 RCV003807591 RCV003883385 RCV003766154 RCV001861441 RCV003766169 RCV000690609 RCV000705000 RCV001851257 RCV000534578 RCV000639771 RCV001057550 RCV001202708 RCV003766801 RCV000548642 RCV001860437 RCV000639797 RCV000639772 RCV000639768 RCV000696128 RCV000703669 RCV000696483 RCV000689516 RCV000823153 RCV000823204 RCV000799366 RCV000801438 RCV000810861 RCV000023085 RCV000023086 RCV001071735 RCV001055134 RCV001879817 RCV001879816 RCV005213512 RCV001301690 RCV001298157	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEHO syndrome	Likely pathogenic; Pathogenic	rs672601368, rs797045164, rs387906799	RCV000207040 RCV000207243 RCV000207102	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs797045050, rs1057518760, rs2125874950, rs2126054153	RCV000191098 RCV000414911 RCV001391469 RCV001391470	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 30A, autosomal dominant	Likely pathogenic; Pathogenic	rs797045164	RCV006270228	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 30B, autosomal recessive	Likely pathogenic; Pathogenic	rs2538259164, rs387906798, rs387907259, rs1575654528	RCV005014948 RCV004584596 RCV004584597 RCV005409747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic intellectual disability	Likely pathogenic; Pathogenic	rs797045164	RCV001796966	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 30	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary sensory and autonomic neuropathy type 2	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, GWAS catalog, Orphanet ClinVar, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY NEUROPATHY, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Recessive	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acro-Osteolysis	Acrosteolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	28970574	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30778698, 37849306	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	31796088	Associate	★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	39519162	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	36233161	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	30301590		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	36305856	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	CLINVAR_DG	26486474		★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28834584	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28834584, 29589274		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	30559488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	31813911	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal spastic paraplegia type 30	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Neoplasm	Benign Neoplasm	BEFREE	22694820		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37239332	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24927296		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19228724, 24927296, 28754978	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	25265257, 31796088		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG	26486474		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	28362824, 31796088, 35326432, 36233161, 37239332	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	36305856	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30179486		★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	30559488		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	30559488		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34373442	Associate	★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	27146152		★☆☆☆☆ Found in Text Mining only
Complicated hereditary spastic paraplegia	Spastic paraplegia	BEFREE	27034427, 28970574		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28970574, 32652677, 38105687	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	CTD_human_DG	30559488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	29351809		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	23776493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29351809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	32746806	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	37239332	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28970574, 31813911, 38105687	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36837615	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26354034, 28970574		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	22258533, 28970574, 29159194, 31796088		★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	31488895		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	GENOMICS_ENGLAND_DG	21820098, 25265257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	21820098, 22258533, 26410750, 28834584, 31488895, 35132656, 37239332	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary sensory and autonomic neuropathy type 2	Hereditary Sensory And Autonomic Neuropathy	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary Sensory Autonomic Neuropathy, Type 2	Hereditary sensory and autonomic neuropathy	BEFREE	21820098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 2	Hereditary sensory and autonomic neuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	31813911	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	39519162	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG	26486474		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25265257		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG	26486474		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25253658, 28344334, 28970574, 31488895		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28970574, 31813911, 32746806	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Language Development Disorders	Language development disorders	Pubtator	28970574	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	BEFREE	30301590		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	36233161	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24927296		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20798208, 22694820		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	31488895		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9	Mental retardation	UNIPROT_DG	21376300, 25265257, 26125038, 26410750		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9	Mental retardation	CLINVAR_DG	21376300, 21820098, 25253658, 25265257, 25585697, 26125038, 26354034, 26410750, 27034427, 28554332, 28834584		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9	Mental retardation	GENOMICS_ENGLAND_DG	21820098, 25265257, 28362824		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	28970574	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	22258533		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	21376300, 21487076, 21820098, 22258533, 25265257, 25585697, 26125038, 26354034, 26410750, 26486474, 27034427, 28332297, 28362824, 28708278, 28835676		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	21376300, 21487076, 21820098, 22258533, 25265257, 25585697, 26125038, 26354034, 26410750, 26486474, 27034427, 28332297, 28362824, 28708278, 28835676		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	20473931		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20473931	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10762626, 20798208		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27034427, 33931448, 35132656	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28834584		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18980998	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20664939, 23417100		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	26410750, 28970574, 32045731, 32652677, 33931448, 36598948	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26410750, 28970574, 30770469		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	21820098, 31455732		★☆☆☆☆ Found in Text Mining only
Neuropathy, Hereditary Sensory And Autonomic, Type IIA	Neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy, Hereditary Sensory And Autonomic, Type IIA	Neuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC	Neuropathy	CLINVAR_DG	21376300, 21820098, 25253658, 25265257, 25585697, 26125038, 26354034, 26410750, 27034427, 28554332, 28834584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC	Neuropathy	GENOMICS_ENGLAND_DG	21820098, 25265257, 28362824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC	Neuropathy	BEFREE	29159194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC	Neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic atrophy	Pubtator	28970574, 37239332	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	CLINVAR_DG	26486474		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	BEFREE	25585697		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	25585697, 27034427, 28362824, 28834584, 31488895, 31813911, 32746806, 35132656	Associate	★☆☆☆☆ Found in Text Mining only
Paronychia Inflammation	Paronychia Inflammation	HPO_DG			★☆☆☆☆ Found in Text Mining only
PEHO syndrome	PEHO Syndrome	BEFREE	26486474, 30385166		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEHO syndrome	PEHO Syndrome	CLINVAR_DG	26486474		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEHO syndrome	PEHO Syndrome	ORPHANET_DG	26486474		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEHO syndrome	PEHO Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEHO syndrome	Peho syndrome	Pubtator	37239332	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG	26486474		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28834584		★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	31512412		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	31512412, 32652677, 37239332	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG	26486474		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23073310	Associate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	25253658		★☆☆☆☆ Found in Text Mining only
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	BEFREE	28834584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	31394400, 37239332	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	28362824	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spastic Paraplegia	Spastic Paraplegia	BEFREE	25253658		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG	26633545		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 10 autosomal dominant	Spastic paraplegia	Pubtator	31488895, 32746806, 37239332	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	BEFREE	31488895		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia 30 Autosomal Recessive	Spastic paraplegia	Pubtator	31488895, 31796088, 32746806, 37239332	Associate	★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)	Amyloid angiopathy	CLINVAR_DG	21376300, 21820098, 25253658, 25265257, 25585697, 26125038, 26354034, 26410750, 27034427, 28554332, 28834584		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)	Amyloid angiopathy	UNIPROT_DG	21487076		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)	Amyloid angiopathy	ORPHANET_DG	22258533, 26410750		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)	Amyloid angiopathy	BEFREE	26410750, 28332297, 31488895		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)	Amyloid angiopathy	GENOMICS_ENGLAND_DG	28362824		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)	Amyloid angiopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	22258533, 27034427, 28834584, 28970574, 30778698, 31488895, 31796088, 32045731, 34983064, 36598948	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	22554690, 27034427, 28332297, 28834584, 28970574, 29159194, 31455732, 31796088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28832565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	Spinocerebellar Ataxia	BEFREE	30301590		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30778698	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20162572, 20473870, 28814981	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20162572		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22694820	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	39519162	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	8661001		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	8661001		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	37239332	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only