STXBP1 (syntaxin binding protein 1)

Gene

• Entrez ID: 6812
• Gene name: Syntaxin binding protein 1
• Gene symbol: STXBP1
• Synonyms (NCBI Gene): DEE4, MUNC18-1, N-Sec1, NSEC1, P67, RBSEC1, UNC18, unc-18A, unc18-1
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile ep

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34830702	G>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs112111568	A>G,T	Pathogenic	Splice acceptor variant
rs121918317	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121918318	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918319	T>G	Pathogenic	Coding sequence variant, missense variant
rs121918320	T>A	Pathogenic	Coding sequence variant, missense variant
rs121918321	C>T	Pathogenic	Coding sequence variant, stop gained
rs147607230	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, intron variant
rs370249358	C>T	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398123695	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs587776641	G>A	Pathogenic	Splice donor variant
rs587777310	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs587784453	A>G	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587784454	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587784455	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs727504173	G>C,T	Pathogenic	Splice donor variant
rs746172968	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs748965227	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs751170778	T>C,G	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant, intron variant
rs767199598	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs777499631	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs786205598	C>T	Uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant, intron variant
rs794727792	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs794727970	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053350	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs796053351	A>C,G	Pathogenic	Splice acceptor variant
rs796053353	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053354	G>A,T	Pathogenic	Splice acceptor variant
rs796053356	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053357	G>A,T	Pathogenic	Splice donor variant
rs796053359	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs796053361	G>A,T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs796053362	G>T	Pathogenic	Coding sequence variant, stop gained
rs796053364	G>T	Pathogenic	Splice acceptor variant
rs796053365	G>A	Pathogenic	Coding sequence variant, missense variant
rs796053366	C>T	Pathogenic	Coding sequence variant, stop gained
rs796053367	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053368	C>T	Pathogenic	Coding sequence variant, missense variant
rs796053370	G>A,T	Pathogenic	Splice donor variant
rs796053373	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053374	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053376	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs796053377	G>A	Pathogenic	Splice donor variant
rs796053379	A>T	Likely-pathogenic	Intron variant
rs796053380	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053382	->G	Pathogenic	Coding sequence variant, splice donor variant
rs796053383	GT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs796053384	->TCGTCCC	Pathogenic	Coding sequence variant, frameshift variant
rs796053385	->A	Pathogenic	Coding sequence variant, frameshift variant
rs796053386	CAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs796053390	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053391	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053392	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039435	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886041246	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs886041337	T>C	Pathogenic	Coding sequence variant, missense variant
rs886041668	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs886041917	->A	Pathogenic	Coding sequence variant, frameshift variant
rs886041978	G>A,C	Pathogenic	Splice donor variant, intron variant
rs886042031	T>CAACAATGATG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs886044141	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517856	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057517880	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1057518123	G>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs1057518154	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518167	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1057518331	AG>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant, 5 prime UTR variant
rs1057518985	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518989	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519189	G>A,C	Pathogenic, uncertain-significance	Splice donor variant
rs1057519501	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057519537	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057519538	AAA>-	Pathogenic	Coding sequence variant, inframe indel
rs1057519539	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1057520544	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057520631	G>A	Pathogenic	Intron variant
rs1057522982	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1057523381	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524795	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524834	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501722	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1060501723	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501724	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793414	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793984	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064794322	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1064795999	TTTGACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796720	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064796989	T>A	Pathogenic	Coding sequence variant, stop gained
rs1085307465	G>T	Pathogenic	Splice donor variant
rs1085307900	T>G	Pathogenic	Coding sequence variant, stop gained
rs1085307916	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1085308022	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691742	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1131691928	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1316686443	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1461664423	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554775960	T>C	Pathogenic	Splice donor variant
rs1554776674	A>G	Pathogenic	Splice acceptor variant
rs1554776842	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554776853	TG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554776948	G>T	Pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs1554776954	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554777375	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554777464	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1554777470	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554777474	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554777480	C>G	Pathogenic	Coding sequence variant, missense variant
rs1554777488	->TGC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1554777496	G>A	Pathogenic	Splice donor variant
rs1554777733	A>G	Likely-pathogenic	Intron variant
rs1554777919	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554778215	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554778227	G>A	Pathogenic	Coding sequence variant, synonymous variant
rs1554778417	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1554778420	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554778509	T>C	Pathogenic	Splice donor variant
rs1554778657	AAGCCGGAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554778676	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554778928	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554778930	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554778941	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564333757	->GCTGTTGTCGG	Pathogenic	Intron variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1564346538	G>T	Pathogenic	Stop gained, coding sequence variant
rs1564349850	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564351084	A>T	Pathogenic	Stop gained, coding sequence variant
rs1564351103	C>T	Pathogenic	Stop gained, coding sequence variant
rs1564351388	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1564352002	G>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1564355614	C>A,G	Pathogenic	Stop gained, coding sequence variant
rs1564355642	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1564356269	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1564357089	T>A	Pathogenic	Stop gained, coding sequence variant
rs1588294498	->GGA	Pathogenic	Coding sequence variant, inframe insertion
rs1588302912	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1588306826	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588306876	TGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1588306948	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1588313568	G>T	Pathogenic	Coding sequence variant, missense variant
rs1588317190	G>A	Pathogenic	Splice acceptor variant
rs1588324025	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1588332693	GTCCCAG>TCAGCACC	Pathogenic	Coding sequence variant, frameshift variant
rs1588339504	TTTTC>G	Likely-pathogenic	Intron variant
rs1588339898	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588341629	G>T	Pathogenic	Coding sequence variant, stop gained
rs1588346359	GCCGGA>C	Pathogenic	Coding sequence variant, frameshift variant
rs1588354779	GC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588355023	C>AA	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050254	hsa-miR-25-3p	CLASH	23622248
MIRT046505	hsa-miR-15b-5p	CLASH	23622248
MIRT043952	hsa-miR-378a-3p	CLASH	23622248
MIRT439511	hsa-miR-544a	HITS-CLIP	24374217
MIRT439511	hsa-miR-544a	HITS-CLIP	24374217
MIRT1401348	hsa-miR-1182	CLIP-seq
MIRT1401349	hsa-miR-1185	CLIP-seq
MIRT1401350	hsa-miR-130a	CLIP-seq
MIRT1401351	hsa-miR-130b	CLIP-seq
MIRT1401352	hsa-miR-148a	CLIP-seq
MIRT1401353	hsa-miR-148b	CLIP-seq
MIRT1401354	hsa-miR-152	CLIP-seq
MIRT1401355	hsa-miR-2861	CLIP-seq
MIRT1401356	hsa-miR-301a	CLIP-seq
MIRT1401357	hsa-miR-301b	CLIP-seq
MIRT1401358	hsa-miR-3120-3p	CLIP-seq
MIRT1401359	hsa-miR-3136-5p	CLIP-seq
MIRT1401360	hsa-miR-3154	CLIP-seq
MIRT1401361	hsa-miR-3155	CLIP-seq
MIRT1401362	hsa-miR-3155b	CLIP-seq
MIRT1401363	hsa-miR-3175	CLIP-seq
MIRT1401364	hsa-miR-329	CLIP-seq
MIRT1401365	hsa-miR-330-3p	CLIP-seq
MIRT1401366	hsa-miR-345	CLIP-seq
MIRT1401367	hsa-miR-34c-3p	CLIP-seq
MIRT1401368	hsa-miR-3605-5p	CLIP-seq
MIRT1401369	hsa-miR-3616-3p	CLIP-seq
MIRT1401370	hsa-miR-362-3p	CLIP-seq
MIRT1401371	hsa-miR-3666	CLIP-seq
MIRT1401372	hsa-miR-3679-5p	CLIP-seq
MIRT1401373	hsa-miR-374c	CLIP-seq
MIRT1401374	hsa-miR-3913-3p	CLIP-seq
MIRT1401375	hsa-miR-3941	CLIP-seq
MIRT1401376	hsa-miR-4295	CLIP-seq
MIRT1401377	hsa-miR-4305	CLIP-seq
MIRT1401378	hsa-miR-4327	CLIP-seq
MIRT1401379	hsa-miR-4420	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT1401381	hsa-miR-4439	CLIP-seq
MIRT1401382	hsa-miR-4512	CLIP-seq
MIRT1401383	hsa-miR-4513	CLIP-seq
MIRT1401384	hsa-miR-454	CLIP-seq
MIRT1401385	hsa-miR-4640-5p	CLIP-seq
MIRT1401386	hsa-miR-4643	CLIP-seq
MIRT1401387	hsa-miR-4699-5p	CLIP-seq
MIRT1401388	hsa-miR-4708-3p	CLIP-seq
MIRT1401389	hsa-miR-4717-3p	CLIP-seq
MIRT1401390	hsa-miR-4724-5p	CLIP-seq
MIRT1401391	hsa-miR-4726-5p	CLIP-seq
MIRT1401392	hsa-miR-4738-3p	CLIP-seq
MIRT1401393	hsa-miR-4761-3p	CLIP-seq
MIRT1401394	hsa-miR-484	CLIP-seq
MIRT1401395	hsa-miR-499-3p	CLIP-seq
MIRT1401396	hsa-miR-499a-3p	CLIP-seq
MIRT1401397	hsa-miR-548b-3p	CLIP-seq
MIRT1401398	hsa-miR-603	CLIP-seq
MIRT1401399	hsa-miR-607	CLIP-seq
MIRT1401400	hsa-miR-655	CLIP-seq
MIRT1401401	hsa-miR-661	CLIP-seq
MIRT1401349	hsa-miR-1185	CLIP-seq
MIRT2120354	hsa-miR-134	CLIP-seq
MIRT2120355	hsa-miR-2113	CLIP-seq
MIRT2120356	hsa-miR-2392	CLIP-seq
MIRT1401355	hsa-miR-2861	CLIP-seq
MIRT2120357	hsa-miR-3074-5p	CLIP-seq
MIRT2120358	hsa-miR-3118	CLIP-seq
MIRT1401360	hsa-miR-3154	CLIP-seq
MIRT1401361	hsa-miR-3155	CLIP-seq
MIRT1401362	hsa-miR-3155b	CLIP-seq
MIRT2120359	hsa-miR-3164	CLIP-seq
MIRT1401368	hsa-miR-3605-5p	CLIP-seq
MIRT2120360	hsa-miR-3614-3p	CLIP-seq
MIRT2120361	hsa-miR-3667-3p	CLIP-seq
MIRT1401372	hsa-miR-3679-5p	CLIP-seq
MIRT2120362	hsa-miR-4297	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT1401382	hsa-miR-4512	CLIP-seq
MIRT1401385	hsa-miR-4640-5p	CLIP-seq
MIRT1401391	hsa-miR-4726-5p	CLIP-seq
MIRT2120363	hsa-miR-4793-3p	CLIP-seq
MIRT1401394	hsa-miR-484	CLIP-seq
MIRT1401399	hsa-miR-607	CLIP-seq
MIRT2120364	hsa-miR-617	CLIP-seq
MIRT2120365	hsa-miR-624	CLIP-seq
MIRT2120366	hsa-miR-658	CLIP-seq
MIRT1401401	hsa-miR-661	CLIP-seq
MIRT2120367	hsa-miR-765	CLIP-seq
MIRT2342406	hsa-miR-1253	CLIP-seq
MIRT2342407	hsa-miR-3145-5p	CLIP-seq
MIRT2342408	hsa-miR-3150a-3p	CLIP-seq
MIRT1401363	hsa-miR-3175	CLIP-seq
MIRT1401365	hsa-miR-330-3p	CLIP-seq
MIRT2342409	hsa-miR-3591-3p	CLIP-seq
MIRT1401369	hsa-miR-3616-3p	CLIP-seq
MIRT2342410	hsa-miR-3925-5p	CLIP-seq
MIRT1401379	hsa-miR-4420	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT2342411	hsa-miR-4457	CLIP-seq
MIRT2342412	hsa-miR-4492	CLIP-seq
MIRT2342413	hsa-miR-4498	CLIP-seq
MIRT2342414	hsa-miR-4505	CLIP-seq
MIRT2342415	hsa-miR-4667-5p	CLIP-seq
MIRT2342416	hsa-miR-4678	CLIP-seq
MIRT2342417	hsa-miR-4700-5p	CLIP-seq
MIRT2342418	hsa-miR-4709-5p	CLIP-seq
MIRT1401390	hsa-miR-4724-5p	CLIP-seq
MIRT2342419	hsa-miR-4728-5p	CLIP-seq
MIRT2342420	hsa-miR-4731-3p	CLIP-seq
MIRT2342421	hsa-miR-4731-5p	CLIP-seq
MIRT1401393	hsa-miR-4761-3p	CLIP-seq
MIRT2342422	hsa-miR-4801	CLIP-seq
MIRT2342423	hsa-miR-508-5p	CLIP-seq
MIRT2342424	hsa-miR-580	CLIP-seq
MIRT1401399	hsa-miR-607	CLIP-seq
MIRT2120365	hsa-miR-624	CLIP-seq
MIRT2342425	hsa-miR-762	CLIP-seq
MIRT2342426	hsa-miR-939	CLIP-seq
MIRT2395401	hsa-miR-3200-5p	CLIP-seq
MIRT2395402	hsa-miR-4766-5p	CLIP-seq
MIRT2460776	hsa-miR-3138	CLIP-seq
MIRT2460777	hsa-miR-4318	CLIP-seq
MIRT2460778	hsa-miR-4800-5p	CLIP-seq
MIRT2636147	hsa-miR-1	CLIP-seq
MIRT2636148	hsa-miR-103b	CLIP-seq
MIRT2636149	hsa-miR-1178	CLIP-seq
MIRT1401348	hsa-miR-1182	CLIP-seq
MIRT1401349	hsa-miR-1185	CLIP-seq
MIRT2636150	hsa-miR-1208	CLIP-seq
MIRT2636151	hsa-miR-1224-5p	CLIP-seq
MIRT2636152	hsa-miR-1254	CLIP-seq
MIRT2636153	hsa-miR-1255a	CLIP-seq
MIRT2636154	hsa-miR-1255b	CLIP-seq
MIRT2636155	hsa-miR-1273d	CLIP-seq
MIRT2636156	hsa-miR-1273f	CLIP-seq
MIRT2636157	hsa-miR-129-3p	CLIP-seq
MIRT2636158	hsa-miR-1303	CLIP-seq
MIRT2636159	hsa-miR-1322	CLIP-seq
MIRT2636160	hsa-miR-139-3p	CLIP-seq
MIRT2636161	hsa-miR-151-3p	CLIP-seq
MIRT2636162	hsa-miR-154	CLIP-seq
MIRT2636163	hsa-miR-15a	CLIP-seq
MIRT2636164	hsa-miR-15b	CLIP-seq
MIRT2636165	hsa-miR-16	CLIP-seq
MIRT2636166	hsa-miR-1915	CLIP-seq
MIRT2636167	hsa-miR-195	CLIP-seq
MIRT2636168	hsa-miR-197	CLIP-seq
MIRT2636169	hsa-miR-206	CLIP-seq
MIRT2636170	hsa-miR-2115	CLIP-seq
MIRT2636171	hsa-miR-2278	CLIP-seq
MIRT2120356	hsa-miR-2392	CLIP-seq
MIRT1401355	hsa-miR-2861	CLIP-seq
MIRT2636172	hsa-miR-3065-5p	CLIP-seq
MIRT2120357	hsa-miR-3074-5p	CLIP-seq
MIRT2636173	hsa-miR-30a	CLIP-seq
MIRT2636174	hsa-miR-30b	CLIP-seq
MIRT2636175	hsa-miR-30c	CLIP-seq
MIRT2636176	hsa-miR-30d	CLIP-seq
MIRT2636177	hsa-miR-30e	CLIP-seq
MIRT2636178	hsa-miR-3116	CLIP-seq
MIRT2636179	hsa-miR-3127-5p	CLIP-seq
MIRT1401359	hsa-miR-3136-5p	CLIP-seq
MIRT2460776	hsa-miR-3138	CLIP-seq
MIRT2636180	hsa-miR-3144-5p	CLIP-seq
MIRT2342407	hsa-miR-3145-5p	CLIP-seq
MIRT2636181	hsa-miR-3147	CLIP-seq
MIRT2342408	hsa-miR-3150a-3p	CLIP-seq
MIRT1401360	hsa-miR-3154	CLIP-seq
MIRT1401361	hsa-miR-3155	CLIP-seq
MIRT1401362	hsa-miR-3155b	CLIP-seq
MIRT2636182	hsa-miR-3160-3p	CLIP-seq
MIRT2636183	hsa-miR-3161	CLIP-seq
MIRT2636184	hsa-miR-3166	CLIP-seq
MIRT1401363	hsa-miR-3175	CLIP-seq
MIRT2636185	hsa-miR-3176	CLIP-seq
MIRT2636186	hsa-miR-3184	CLIP-seq
MIRT2636187	hsa-miR-3188	CLIP-seq
MIRT2636188	hsa-miR-3191	CLIP-seq
MIRT2636189	hsa-miR-3199	CLIP-seq
MIRT1401366	hsa-miR-345	CLIP-seq
MIRT2636190	hsa-miR-34a	CLIP-seq
MIRT2636191	hsa-miR-34c-5p	CLIP-seq
MIRT1401368	hsa-miR-3605-5p	CLIP-seq
MIRT2636192	hsa-miR-3612	CLIP-seq
MIRT2120360	hsa-miR-3614-3p	CLIP-seq
MIRT2636193	hsa-miR-362-5p	CLIP-seq
MIRT2636194	hsa-miR-3650	CLIP-seq
MIRT2636195	hsa-miR-3651	CLIP-seq
MIRT2636196	hsa-miR-3662	CLIP-seq
MIRT2120361	hsa-miR-3667-3p	CLIP-seq
MIRT2636197	hsa-miR-3673	CLIP-seq
MIRT2636198	hsa-miR-3675-3p	CLIP-seq
MIRT1401372	hsa-miR-3679-5p	CLIP-seq
MIRT2636199	hsa-miR-3915	CLIP-seq
MIRT2636200	hsa-miR-3922-3p	CLIP-seq
MIRT2636201	hsa-miR-423-5p	CLIP-seq
MIRT2636202	hsa-miR-424	CLIP-seq
MIRT2636203	hsa-miR-4269	CLIP-seq
MIRT2120362	hsa-miR-4297	CLIP-seq
MIRT2636204	hsa-miR-4302	CLIP-seq
MIRT2636205	hsa-miR-4311	CLIP-seq
MIRT2460777	hsa-miR-4318	CLIP-seq
MIRT1401378	hsa-miR-4327	CLIP-seq
MIRT2636206	hsa-miR-4425	CLIP-seq
MIRT2636207	hsa-miR-4434	CLIP-seq
MIRT2636208	hsa-miR-4436b-5p	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT1401381	hsa-miR-4439	CLIP-seq
MIRT2636209	hsa-miR-4443	CLIP-seq
MIRT2636210	hsa-miR-4463	CLIP-seq
MIRT2636211	hsa-miR-4477b	CLIP-seq
MIRT2636212	hsa-miR-4487	CLIP-seq
MIRT2636213	hsa-miR-4499	CLIP-seq
MIRT2636214	hsa-miR-449a	CLIP-seq
MIRT2636215	hsa-miR-449b	CLIP-seq
MIRT2342414	hsa-miR-4505	CLIP-seq
MIRT2636216	hsa-miR-450b-3p	CLIP-seq
MIRT1401382	hsa-miR-4512	CLIP-seq
MIRT1401383	hsa-miR-4513	CLIP-seq
MIRT2636217	hsa-miR-4515	CLIP-seq
MIRT2636218	hsa-miR-4516	CLIP-seq
MIRT2636219	hsa-miR-452	CLIP-seq
MIRT2636220	hsa-miR-4531	CLIP-seq
MIRT2636221	hsa-miR-4534	CLIP-seq
MIRT2636222	hsa-miR-4540	CLIP-seq
MIRT2636223	hsa-miR-4637	CLIP-seq
MIRT1401385	hsa-miR-4640-5p	CLIP-seq
MIRT2636224	hsa-miR-4652-5p	CLIP-seq
MIRT2636225	hsa-miR-4655-3p	CLIP-seq
MIRT2636226	hsa-miR-4655-5p	CLIP-seq
MIRT2636227	hsa-miR-4661-5p	CLIP-seq
MIRT2636228	hsa-miR-4662a-3p	CLIP-seq
MIRT2636229	hsa-miR-4663	CLIP-seq
MIRT2342415	hsa-miR-4667-5p	CLIP-seq
MIRT2636230	hsa-miR-4668-5p	CLIP-seq
MIRT2636231	hsa-miR-4676-3p	CLIP-seq
MIRT2636232	hsa-miR-4687-5p	CLIP-seq
MIRT2636233	hsa-miR-4689	CLIP-seq
MIRT2636234	hsa-miR-4690-5p	CLIP-seq
MIRT1401387	hsa-miR-4699-5p	CLIP-seq
MIRT2342417	hsa-miR-4700-5p	CLIP-seq
MIRT2636235	hsa-miR-4712-3p	CLIP-seq
MIRT2636236	hsa-miR-4719	CLIP-seq
MIRT2636237	hsa-miR-4725-5p	CLIP-seq
MIRT2636238	hsa-miR-4726-3p	CLIP-seq
MIRT1401391	hsa-miR-4726-5p	CLIP-seq
MIRT2342419	hsa-miR-4728-5p	CLIP-seq
MIRT2342421	hsa-miR-4731-5p	CLIP-seq
MIRT1401392	hsa-miR-4738-3p	CLIP-seq
MIRT2636239	hsa-miR-4738-5p	CLIP-seq
MIRT2636240	hsa-miR-4762-3p	CLIP-seq
MIRT2636241	hsa-miR-4771	CLIP-seq
MIRT2636242	hsa-miR-4775	CLIP-seq
MIRT2636243	hsa-miR-4780	CLIP-seq
MIRT2636244	hsa-miR-4787-5p	CLIP-seq
MIRT2120363	hsa-miR-4793-3p	CLIP-seq
MIRT2636245	hsa-miR-4795-3p	CLIP-seq
MIRT2460778	hsa-miR-4800-5p	CLIP-seq
MIRT2636246	hsa-miR-4802-5p	CLIP-seq
MIRT1401394	hsa-miR-484	CLIP-seq
MIRT2636247	hsa-miR-486-3p	CLIP-seq
MIRT2636248	hsa-miR-497	CLIP-seq
MIRT2636249	hsa-miR-498	CLIP-seq
MIRT2636250	hsa-miR-500b	CLIP-seq
MIRT2636251	hsa-miR-501-5p	CLIP-seq
MIRT2636252	hsa-miR-504	CLIP-seq
MIRT2342423	hsa-miR-508-5p	CLIP-seq
MIRT2636253	hsa-miR-513c	CLIP-seq
MIRT2636254	hsa-miR-514b-5p	CLIP-seq
MIRT2636255	hsa-miR-515-5p	CLIP-seq
MIRT2636256	hsa-miR-517a	CLIP-seq
MIRT2636257	hsa-miR-517b	CLIP-seq
MIRT2636258	hsa-miR-517c	CLIP-seq
MIRT2636259	hsa-miR-522	CLIP-seq
MIRT2636260	hsa-miR-526b	CLIP-seq
MIRT2636261	hsa-miR-542-3p	CLIP-seq
MIRT2636262	hsa-miR-544	CLIP-seq
MIRT2636263	hsa-miR-548ag	CLIP-seq
MIRT2636264	hsa-miR-548ai	CLIP-seq
MIRT1401397	hsa-miR-548b-3p	CLIP-seq
MIRT2636265	hsa-miR-556-5p	CLIP-seq
MIRT2636266	hsa-miR-558	CLIP-seq
MIRT2636267	hsa-miR-590-3p	CLIP-seq
MIRT2636268	hsa-miR-610	CLIP-seq
MIRT2636269	hsa-miR-613	CLIP-seq
MIRT2120364	hsa-miR-617	CLIP-seq
MIRT2636270	hsa-miR-627	CLIP-seq
MIRT2636271	hsa-miR-642a	CLIP-seq
MIRT2636272	hsa-miR-650	CLIP-seq
MIRT1401401	hsa-miR-661	CLIP-seq
MIRT2120367	hsa-miR-765	CLIP-seq
MIRT2636273	hsa-miR-769-3p	CLIP-seq
MIRT2636274	hsa-miR-873	CLIP-seq
MIRT2636275	hsa-miR-887	CLIP-seq
MIRT2636276	hsa-miR-924	CLIP-seq
MIRT2342426	hsa-miR-939	CLIP-seq
MIRT2636277	hsa-miR-944	CLIP-seq
MIRT2636147	hsa-miR-1	CLIP-seq
MIRT2636148	hsa-miR-103b	CLIP-seq
MIRT2636149	hsa-miR-1178	CLIP-seq
MIRT1401348	hsa-miR-1182	CLIP-seq
MIRT1401349	hsa-miR-1185	CLIP-seq
MIRT2636150	hsa-miR-1208	CLIP-seq
MIRT2636151	hsa-miR-1224-5p	CLIP-seq
MIRT2636152	hsa-miR-1254	CLIP-seq
MIRT2636153	hsa-miR-1255a	CLIP-seq
MIRT2636154	hsa-miR-1255b	CLIP-seq
MIRT2636155	hsa-miR-1273d	CLIP-seq
MIRT2636157	hsa-miR-129-3p	CLIP-seq
MIRT2636159	hsa-miR-1322	CLIP-seq
MIRT2636161	hsa-miR-151-3p	CLIP-seq
MIRT2636162	hsa-miR-154	CLIP-seq
MIRT2636163	hsa-miR-15a	CLIP-seq
MIRT2636164	hsa-miR-15b	CLIP-seq
MIRT2636165	hsa-miR-16	CLIP-seq
MIRT2636166	hsa-miR-1915	CLIP-seq
MIRT2636167	hsa-miR-195	CLIP-seq
MIRT2636168	hsa-miR-197	CLIP-seq
MIRT2636169	hsa-miR-206	CLIP-seq
MIRT2636171	hsa-miR-2278	CLIP-seq
MIRT2120356	hsa-miR-2392	CLIP-seq
MIRT1401355	hsa-miR-2861	CLIP-seq
MIRT2120357	hsa-miR-3074-5p	CLIP-seq
MIRT2636173	hsa-miR-30a	CLIP-seq
MIRT2636174	hsa-miR-30b	CLIP-seq
MIRT2636175	hsa-miR-30c	CLIP-seq
MIRT2636176	hsa-miR-30d	CLIP-seq
MIRT2636177	hsa-miR-30e	CLIP-seq
MIRT2636178	hsa-miR-3116	CLIP-seq
MIRT2636179	hsa-miR-3127-5p	CLIP-seq
MIRT1401359	hsa-miR-3136-5p	CLIP-seq
MIRT2460776	hsa-miR-3138	CLIP-seq
MIRT2636180	hsa-miR-3144-5p	CLIP-seq
MIRT2342407	hsa-miR-3145-5p	CLIP-seq
MIRT2636181	hsa-miR-3147	CLIP-seq
MIRT2342408	hsa-miR-3150a-3p	CLIP-seq
MIRT1401360	hsa-miR-3154	CLIP-seq
MIRT1401361	hsa-miR-3155	CLIP-seq
MIRT1401362	hsa-miR-3155b	CLIP-seq
MIRT2636182	hsa-miR-3160-3p	CLIP-seq
MIRT2636183	hsa-miR-3161	CLIP-seq
MIRT2636184	hsa-miR-3166	CLIP-seq
MIRT1401363	hsa-miR-3175	CLIP-seq
MIRT2636185	hsa-miR-3176	CLIP-seq
MIRT2636186	hsa-miR-3184	CLIP-seq
MIRT2636188	hsa-miR-3191	CLIP-seq
MIRT2636189	hsa-miR-3199	CLIP-seq
MIRT1401366	hsa-miR-345	CLIP-seq
MIRT2636190	hsa-miR-34a	CLIP-seq
MIRT2636191	hsa-miR-34c-5p	CLIP-seq
MIRT1401368	hsa-miR-3605-5p	CLIP-seq
MIRT2120360	hsa-miR-3614-3p	CLIP-seq
MIRT2636193	hsa-miR-362-5p	CLIP-seq
MIRT2636194	hsa-miR-3650	CLIP-seq
MIRT2636195	hsa-miR-3651	CLIP-seq
MIRT2636196	hsa-miR-3662	CLIP-seq
MIRT2120361	hsa-miR-3667-3p	CLIP-seq
MIRT2636197	hsa-miR-3673	CLIP-seq
MIRT1401372	hsa-miR-3679-5p	CLIP-seq
MIRT2636199	hsa-miR-3915	CLIP-seq
MIRT2636200	hsa-miR-3922-3p	CLIP-seq
MIRT2636201	hsa-miR-423-5p	CLIP-seq
MIRT2636202	hsa-miR-424	CLIP-seq
MIRT2636203	hsa-miR-4269	CLIP-seq
MIRT2120362	hsa-miR-4297	CLIP-seq
MIRT2636204	hsa-miR-4302	CLIP-seq
MIRT2636205	hsa-miR-4311	CLIP-seq
MIRT2460777	hsa-miR-4318	CLIP-seq
MIRT1401378	hsa-miR-4327	CLIP-seq
MIRT2636206	hsa-miR-4425	CLIP-seq
MIRT2636207	hsa-miR-4434	CLIP-seq
MIRT2636208	hsa-miR-4436b-5p	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT1401381	hsa-miR-4439	CLIP-seq
MIRT2636210	hsa-miR-4463	CLIP-seq
MIRT2636211	hsa-miR-4477b	CLIP-seq
MIRT2636212	hsa-miR-4487	CLIP-seq
MIRT2636213	hsa-miR-4499	CLIP-seq
MIRT2636214	hsa-miR-449a	CLIP-seq
MIRT2636215	hsa-miR-449b	CLIP-seq
MIRT2342414	hsa-miR-4505	CLIP-seq
MIRT2636216	hsa-miR-450b-3p	CLIP-seq
MIRT1401382	hsa-miR-4512	CLIP-seq
MIRT1401383	hsa-miR-4513	CLIP-seq
MIRT2636217	hsa-miR-4515	CLIP-seq
MIRT2636218	hsa-miR-4516	CLIP-seq
MIRT2636219	hsa-miR-452	CLIP-seq
MIRT2636220	hsa-miR-4531	CLIP-seq
MIRT2636222	hsa-miR-4540	CLIP-seq
MIRT2636223	hsa-miR-4637	CLIP-seq
MIRT1401385	hsa-miR-4640-5p	CLIP-seq
MIRT2636224	hsa-miR-4652-5p	CLIP-seq
MIRT2636225	hsa-miR-4655-3p	CLIP-seq
MIRT2636226	hsa-miR-4655-5p	CLIP-seq
MIRT2636227	hsa-miR-4661-5p	CLIP-seq
MIRT2636228	hsa-miR-4662a-3p	CLIP-seq
MIRT2636229	hsa-miR-4663	CLIP-seq
MIRT2342415	hsa-miR-4667-5p	CLIP-seq
MIRT2636230	hsa-miR-4668-5p	CLIP-seq
MIRT2636231	hsa-miR-4676-3p	CLIP-seq
MIRT2636232	hsa-miR-4687-5p	CLIP-seq
MIRT2636233	hsa-miR-4689	CLIP-seq
MIRT2636234	hsa-miR-4690-5p	CLIP-seq
MIRT1401387	hsa-miR-4699-5p	CLIP-seq
MIRT2342417	hsa-miR-4700-5p	CLIP-seq
MIRT2636235	hsa-miR-4712-3p	CLIP-seq
MIRT2636236	hsa-miR-4719	CLIP-seq
MIRT2636237	hsa-miR-4725-5p	CLIP-seq
MIRT2636238	hsa-miR-4726-3p	CLIP-seq
MIRT1401391	hsa-miR-4726-5p	CLIP-seq
MIRT2342419	hsa-miR-4728-5p	CLIP-seq
MIRT2342421	hsa-miR-4731-5p	CLIP-seq
MIRT1401392	hsa-miR-4738-3p	CLIP-seq
MIRT2636240	hsa-miR-4762-3p	CLIP-seq
MIRT2636241	hsa-miR-4771	CLIP-seq
MIRT2636242	hsa-miR-4775	CLIP-seq
MIRT2636243	hsa-miR-4780	CLIP-seq
MIRT2636244	hsa-miR-4787-5p	CLIP-seq
MIRT2120363	hsa-miR-4793-3p	CLIP-seq
MIRT2636245	hsa-miR-4795-3p	CLIP-seq
MIRT2460778	hsa-miR-4800-5p	CLIP-seq
MIRT1401394	hsa-miR-484	CLIP-seq
MIRT2636247	hsa-miR-486-3p	CLIP-seq
MIRT2636248	hsa-miR-497	CLIP-seq
MIRT2636249	hsa-miR-498	CLIP-seq
MIRT2636250	hsa-miR-500b	CLIP-seq
MIRT2636251	hsa-miR-501-5p	CLIP-seq
MIRT2636252	hsa-miR-504	CLIP-seq
MIRT2342423	hsa-miR-508-5p	CLIP-seq
MIRT2636255	hsa-miR-515-5p	CLIP-seq
MIRT2636256	hsa-miR-517a	CLIP-seq
MIRT2636257	hsa-miR-517b	CLIP-seq
MIRT2636258	hsa-miR-517c	CLIP-seq
MIRT2636259	hsa-miR-522	CLIP-seq
MIRT2636260	hsa-miR-526b	CLIP-seq
MIRT2636261	hsa-miR-542-3p	CLIP-seq
MIRT2636263	hsa-miR-548ag	CLIP-seq
MIRT2636264	hsa-miR-548ai	CLIP-seq
MIRT1401397	hsa-miR-548b-3p	CLIP-seq
MIRT2636265	hsa-miR-556-5p	CLIP-seq
MIRT2636266	hsa-miR-558	CLIP-seq
MIRT2636267	hsa-miR-590-3p	CLIP-seq
MIRT2636269	hsa-miR-613	CLIP-seq
MIRT2120364	hsa-miR-617	CLIP-seq
MIRT2636270	hsa-miR-627	CLIP-seq
MIRT2636271	hsa-miR-642a	CLIP-seq
MIRT1401401	hsa-miR-661	CLIP-seq
MIRT2120367	hsa-miR-765	CLIP-seq
MIRT2636273	hsa-miR-769-3p	CLIP-seq
MIRT2636275	hsa-miR-887	CLIP-seq
MIRT2636276	hsa-miR-924	CLIP-seq
MIRT2342426	hsa-miR-939	CLIP-seq
MIRT2636277	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IEA
GO:0000149	Function	SNARE binding	ISS
GO:0002576	Process	Platelet degranulation	IMP	12773094
GO:0003006	Process	Developmental process involved in reproduction	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	16049941, 17500595, 25416956, 25910212, 26635000, 32296183, 32814053, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12773094
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	IBA
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	ISS
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0007412	Process	Axon target recognition	IEA
GO:0007412	Process	Axon target recognition	ISS
GO:0010807	Process	Regulation of synaptic vesicle priming	IEA
GO:0010807	Process	Regulation of synaptic vesicle priming	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016082	Process	Synaptic vesicle priming	IEA
GO:0016188	Process	Synaptic vesicle maturation	IEA
GO:0016188	Process	Synaptic vesicle maturation	ISS
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0017075	Function	Syntaxin-1 binding	IBA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0017075	Function	Syntaxin-1 binding	IPI	12730201, 19748891
GO:0017075	Function	Syntaxin-1 binding	ISS
GO:0019901	Function	Protein kinase binding	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0019905	Function	Syntaxin binding	IEA
GO:0019905	Function	Syntaxin binding	IPI	12773094
GO:0030141	Component	Secretory granule	IBA
GO:0030141	Component	Secretory granule	IEA
GO:0030424	Component	Axon	IEA
GO:0031091	Component	Platelet alpha granule	IDA	12773094
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IEA
GO:0031338	Process	Regulation of vesicle fusion	IEA
GO:0031630	Process	Regulation of synaptic vesicle fusion to presynaptic active zone membrane	TAS	15217342
GO:0032229	Process	Negative regulation of synaptic transmission, GABAergic	IEA
GO:0032229	Process	Negative regulation of synaptic transmission, GABAergic	ISS
GO:0032355	Process	Response to estradiol	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0035493	Process	SNARE complex assembly	IMP	23091057
GO:0035542	Process	Regulation of SNARE complex assembly	TAS	15217342
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0043274	Function	Phospholipase binding	IEA
GO:0043306	Process	Positive regulation of mast cell degranulation	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045055	Process	Regulated exocytosis	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045921	Process	Positive regulation of exocytosis	IEA
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060292	Process	Long-term synaptic depression	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070527	Process	Platelet aggregation	IMP	12773094
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0072659	Process	Protein localization to plasma membrane	IDA	17543282
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IEA
GO:0098888	Component	Extrinsic component of presynaptic membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099525	Process	Presynaptic dense core vesicle exocytosis	IBA
GO:0106022	Process	Positive regulation of vesicle docking	IEA
GO:1903296	Process	Positive regulation of glutamate secretion, neurotransmission	IEA
GO:1903305	Process	Regulation of regulated secretory pathway	IEA
GO:2000367	Process	Regulation of acrosomal vesicle exocytosis	IMP	23091057

Other IDs

• MIM: 602926
• HGNC: 11444
• e!Ensembl: ENSG00000136854

Protein

• UniProt ID: P61764
• Protein name: Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Protein unc-18 homolog 1) (Unc18-1) (Protein unc-18 homolog A) (Unc-18A) (p67)
• Protein function: Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probabl
• PDB: 6L03
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00995	Sec1	29 → 581	Sec1 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain and spinal cord. Highly enriched in axons.
• Sequence:

  MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVED
  INKRREPLPSLEAVYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVK
  SRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPILERLAEQIATLC
  ATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPS
  SPVLHELTFQAMSYDLLPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVS
  QEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKMPQYQKELSKYSTHLHLAEDCMKHYQG
  TVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVSTYDKIRIILLYIFLKNGITE
  ENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTP
  IIKDIMEDTIEDKLDTKHYPYISTRSSASFSTTAVSARYGHWHKNKAPGEYRSGPRLIIF
  ILGGVSLNEMRCAYEVTQANGKWEVLIGSTHILTPQKLLDTLKKLNKTDEEISS

• Sequence length: 594

Pathways

KEGG:

Synaptic vesicle cycle

Reactome:

Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
GABA synthesis, release, reuptake and degradation

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
Atypical behavior	Pathogenic	rs1554776954	RCV000626841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Pathogenic	rs796053370	RCV001003595	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs1841141204	RCV001291380	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Pathogenic; Likely pathogenic	rs796053366, rs1588339504	RCV001807119 RCV000851512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar vermis hypoplasia	Pathogenic	rs794727970	RCV000779652	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Pathogenic	rs794727970	RCV001258012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs886041337, rs2131462357, rs2132460935, rs2131497242, rs2131521530, rs2131535952, rs2131513223, rs2131521957, rs587777310, rs2131513660, rs2132461012, rs2132275717, rs2132460743, rs2131535795, rs2131451091, rs1841615616, rs2131497207, rs2131450364, rs2131488963, rs2131454649, rs2131481685, rs2131488795, rs1841946692, rs2131469592, rs2131462829, rs2131543392, rs2131451053, rs587784453, rs587784454, rs727504173, rs2538558406, rs2539802827, rs2538559187, rs786205598, rs794727792, rs794727970, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053355, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs2539834708, rs2538613606, rs2539639191, rs2538577041, rs1165371723, rs2539778271, rs2538612016, rs2538613542, rs2539816577, rs1841613716, rs2538558707, rs2539834154, rs2539834747, rs121918317, rs121918321, rs2538576581, rs751170778, rs886039435, rs886041668, rs886041246, rs2539820701, rs2538552531, rs2538576465, rs2539834585, rs1554775956, rs2538575897, rs2539771559, rs2539820655, rs2131522449, rs2538589846, rs2539809141, rs2539792278, rs2539777929, rs796053374, rs1057519501, rs1060501724, rs1060501722, rs1060501723, rs1085307916, rs1554778657, rs1554776948, rs1554778417, rs1057522982, rs1554777496, rs1554777470, rs1564346538, rs1564352002, rs1564349850, rs1564351103, rs1564333757, rs1588313568, rs1554777464, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1840967817, rs1842042825, rs1841133653, rs1842044505, rs942940725, rs1841238690, rs1841239642, rs1841566644, rs1841723344, rs1840976417, rs1841240415, rs1841289209, rs1841869298, rs1842046459, rs1841141204, rs1840653229	RCV001325664 RCV001859245 RCV001377529 RCV001381949 RCV001383668 RCV001384180 RCV003753180 RCV001785419 RCV000525775 RCV001928226 RCV001875757 RCV001953769 RCV001953770 RCV001973846 RCV001972177 RCV002002246 RCV001922626 RCV001939548 RCV002037968 RCV002045587 RCV002046631 RCV001970229 RCV001911421 RCV001898761 RCV001982971 RCV002008887 RCV001890606 RCV000636306 RCV001850006 RCV002514965 RCV005098432 RCV003037332 RCV003058233 RCV000700520 RCV001380262 RCV000796167 RCV002517020 RCV001996146 RCV005089960 RCV005089961 RCV001061798 RCV000548823 RCV000819097 RCV000636416 RCV000477371 RCV000636419 RCV001204641 RCV000471170 RCV001071757 RCV002514069 RCV000796895 RCV002796777 RCV002812034 RCV002847027 RCV002881377 RCV002862600 RCV002894259 RCV002922766 RCV002909993 RCV002947244 RCV002938817 RCV003010367 RCV003016726 RCV003006246 RCV003023737 RCV003588557 RCV000539734 RCV003034951 RCV000232712 RCV001240474 RCV000792098 RCV000458588 RCV003588952 RCV003589851 RCV003590437 RCV003754277 RCV003754318 RCV003754355 RCV003754309 RCV003754485 RCV003754814 RCV003754802 RCV003754828 RCV003752638 RCV003753671 RCV002523940 RCV001861468 RCV000456399 RCV000464099 RCV000470907 RCV003753124 RCV000791831 RCV001053882 RCV000543201 RCV000527133 RCV000553132 RCV001214993 RCV001202015 RCV003753152 RCV000694876 RCV000686294 RCV000703111 RCV000687594 RCV000693775 RCV000804423 RCV000818065 RCV001860567 RCV001051053 RCV001038009 RCV001058311 RCV001052731 RCV001050020 RCV003588714 RCV001214481 RCV001224723 RCV001215125 RCV001201587 RCV001232299 RCV001234364 RCV001235742 RCV001241713 RCV001245988 RCV001240702 RCV001227609 RCV001246624 RCV001879760 RCV003770290 RCV003588732 RCV001377782 RCV003588731 RCV001863164 RCV001306800	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 4	Pathogenic; Likely pathogenic	rs2131510237, rs2131473052, rs2131501481, rs2132444703, rs2131481488, rs2131513223, rs2132275633, rs2131536069, rs2131481623, rs2132444527, rs2131510168, rs2131472407, rs2131522449, rs1554777480, rs2131528405, rs2131497300, rs2132275717, rs587777310, rs2131481907, rs2131501072, rs2131454649, rs2539835265, rs2131481227, rs2131501460, rs2131536257, rs587784455, rs587784453, rs587784454, rs1588317190, rs2131513670, rs727504173, rs1219725395, rs2538559195, rs2539820308, rs1408532785, rs2539816328, rs1064796720, rs2538558406, rs2539820167, rs2131528253, rs2539802611, rs786205598, rs794727792, rs794727970, rs796053353, rs796053355, rs796053359, rs1554777708, rs796053361, rs796053365, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053377, rs2539639191, rs121918317, rs121918318, rs121918319, rs121918320, rs121918321, rs587776641, rs2539777975, rs1085307900, rs2538599791, rs2538600189, rs886041246, rs886041337, rs2538599540, rs2539809075, rs2539835039, rs2539799194, rs1564355642, rs2538613011, rs2539802835, rs1239532436, rs142595450, rs2539799215, rs2538600335, rs2539827928, rs2538552971, rs2539816286, rs2539639536, rs2539777941, rs1057518154, rs886041978, rs1057519501, rs1085307916, rs1554775960, rs1554778657, rs1554776948, rs1554778417, rs1554776674, rs1554776853, rs1554777496, rs1564351388, rs1564346538, rs796053357, rs796053374, rs1564357089, rs1564356269, rs1564355614, rs1588302912, rs1461664423, rs1588306876, rs796053354, rs1588324025, rs1588339898, rs1588306948, rs1588341629, rs1841611480, rs1057519189, rs2538589846, rs1841290957, rs756998073, rs1838431452, rs112002192, rs942940725, rs1841240415, rs1841237663, rs1840868164, rs1841026473, rs886039435, rs1842044505, rs1841141204, rs1842039791	RCV001726526 RCV001376171 RCV001420160 RCV003387533 RCV004785266 RCV001542586 RCV001568361 RCV003152767 RCV001724738 RCV001726699 RCV001726700 RCV001726701 RCV001726702 RCV001726703 RCV001726704 RCV001730121 RCV001775315 RCV000114939 RCV001837057 RCV001839311 RCV002466276 RCV002291806 RCV002246749 RCV002246750 RCV002255243 RCV000147709 RCV000147705 RCV000147706 RCV002287874 RCV002289381 RCV001726006 RCV002444403 RCV003138276 RCV002466374 RCV002466375 RCV002466376 RCV002466377 RCV002466378 RCV002468896 RCV002471859 RCV002471887 RCV000515202 RCV000179420 RCV000504117 RCV000416131 RCV000415749 RCV000415997 RCV002272880 RCV000416099 RCV002463658 RCV001336021 RCV001332690 RCV001781559 RCV000415832 RCV000789013 RCV000415936 RCV001253119 RCV004794596 RCV000193347 RCV000007118 RCV000007119 RCV000007120 RCV000007121 RCV000007122 RCV000007123 RCV003128220 RCV003132817 RCV003149132 RCV003223538 RCV000416146 RCV004527371 RCV003234843 RCV003311625 RCV003316890 RCV003318519 RCV003322719 RCV003335799 RCV003338164 RCV003447436 RCV003448798 RCV003484525 RCV003991212 RCV003992131 RCV004566392 RCV004556165 RCV004594916 RCV004595101 RCV005001049 RCV000415793 RCV000416539 RCV001089744 RCV002466257 RCV001290393 RCV000503704 RCV001253253 RCV001030035 RCV000721132 RCV000680109 RCV000590900 RCV002470917 RCV000678382 RCV000680112 RCV000680111 RCV001270414 RCV000721133 RCV000760209 RCV001249693 RCV000988248 RCV000988249 RCV000988250 RCV000988252 RCV000988253 RCV000988254 RCV000988255 RCV000995655 RCV000995656 RCV001031000 RCV001003469 RCV005628293 RCV001004708 RCV001004748 RCV001089745 RCV001089742 RCV001089985 RCV002281583 RCV001253063 RCV001799745 RCV001249710 RCV001249692 RCV001250745 RCV001250744 RCV001253243 RCV001253476 RCV001262157 RCV001775165 RCV006270484 RCV002051934 RCV001293010	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental disorder	Pathogenic	rs796053373	RCV003126574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early onset epileptic encephalopathy	Likely pathogenic; Pathogenic	rs786205598	RCV000509312	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Pathogenic; Likely pathogenic	rs796053366, rs796053367, rs1057518985, rs1057519538, rs1057519539, rs1057519537, rs1057519189	RCV000416987 RCV000417024 RCV000415156 RCV000417033 RCV000416969 RCV000416996 RCV001003593 RCV001003594	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs1554776954, rs796053370	RCV000626841 RCV001003595	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hand tremor	Pathogenic	rs1554776954	RCV000626841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile epilepsy syndrome	Pathogenic; Likely pathogenic	rs587784453, rs786205598, rs794727792, rs794727970, rs796053379, rs796053352, rs796053355, rs796053359, rs796053361, rs796053365, rs796053366, rs796053367, rs796053373, rs796053377, rs121918321, rs886039435, rs886041668, rs886041246, rs886041978, rs1057520631, rs1057523381, rs1554778930, rs1554776674, rs1554778928, rs1554776842, rs1554777470, rs1554777733, rs1554778657, rs1841240415, rs1840655911, rs1841284648, rs1841289209, rs1841564743, rs1841869298, rs1841944944, rs1842039949, rs1842046459	RCV001265418 RCV001265420 RCV001265297 RCV001265518 RCV001265153 RCV001265425 RCV001265515 RCV001265520 RCV001265522 RCV001265298 RCV001265514 RCV001265293 RCV001265516 RCV001265152 RCV001265424 RCV001265291 RCV001265295 RCV001265512 RCV001265146 RCV001265150 RCV001265344 RCV001265341 RCV001265147 RCV001265421 RCV001265343 RCV001265417 RCV001265149 RCV001265422 RCV001265136 RCV001265151 RCV001265296 RCV001265292 RCV001265517 RCV001265423 RCV001265521 RCV001265519 RCV001265513 RCV001265342 RCV001265419	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs794727792, rs796053353, rs796053366, rs796053368, rs1588294498, rs1588339504, rs1588324025, rs886039435, rs1841140785, rs1841239642	RCV001260782 RCV000851509 RCV001260836 RCV001260800 RCV000859979 RCV000851512 RCV001255351 RCV001255367 RCV001260802 RCV001260849	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrocephaly	Pathogenic	rs1554776954	RCV000626841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs1554777480	RCV000626840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate global developmental delay	Pathogenic	rs796053366	RCV001807119	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs796053355	RCV002273977	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1554777708	RCV003389080	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-syndromic intellectual disability	Likely pathogenic	rs1135401819	RCV000496201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2131536069, rs796053353, rs796053373, rs1554776954	RCV004546667 RCV000851509 RCV005624341 RCV000626841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe global developmental delay	Pathogenic	rs1554777480	RCV000626840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual deficiency	Likely pathogenic	rs1057518989	RCV000415268	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic; Pathogenic	rs2131462357, rs786205598	RCV001647178 RCV001640264	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spasticity	Pathogenic	rs1588294498	RCV000859979	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STXBP1-associated neurodevelopmental disorder	Pathogenic	rs796053377	RCV000578282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STXBP1-related disorder	Pathogenic; Likely pathogenic	rs796053359, rs796053367	RCV003335187 RCV004552565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tremor	Pathogenic	rs796053366	RCV001807119	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs1554777464	RCV005900987	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West syndrome	Likely pathogenic; Pathogenic	rs786205598	RCV003488419	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATYPICAL RETT SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOGENIC WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRAVET SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, MYOCLONIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies/dysmorphic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCLONIC EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegeneration	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Photosensitive tonic-clonic seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETT SYNDROME, ATYPICAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALAAM SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, TONIC-CLONIC, PHOTOSENSITIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STRABISMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STXBP1-related neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
9q33.3q34.11 microdeletion syndrome	9q33.3q34.11 microdeletion syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22532456, 37848007	Associate	★☆☆☆☆ Found in Text Mining only
Amblyopia	Amblyopia	Pubtator	23531706	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30929165		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	38136601	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32105008, 33332765	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Rett syndrome	Rett Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	38057311	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22722545, 31323913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	22722545, 27824329, 35851549, 37583270	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Benign Infantile Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	18469812		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	20887364, 21364700, 21762454, 21770924, 22722545, 23409955, 23531706, 25418441, 25818041, 26280581, 26344814, 26514728, 26648591, 26795593, 26918652, 28133863, 29186148, 29190809, 29438995, 29896790, 29997391, 31255830, 32105008, 33332765, 35007884, 36315647, 36564538, 39456768	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis Neuronal 1	Neuronal ceroid lipofuscinosis	Pubtator	28792770	Inhibit	★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 1	Neuronal ceroid lipofuscinosis	BEFREE	28792770		★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	21770924	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35851549	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	26280581	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16334444		★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	23929658, 26395556		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	26395556		★☆☆☆☆ Found in Text Mining only
Convulsions in the newborn	Convulsions	BEFREE	29455050		★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	24095819		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26740508, 26993267, 29438995, 29896790, 31056551, 31387522, 33332765, 35190816, 37407264, 37583270, 38015929	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16443778, 29470815		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16443778, 29470815		★☆☆☆☆ Found in Text Mining only
Dravet syndrome	Dravet Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35851549	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	22722545	Associate	★☆☆☆☆ Found in Text Mining only
Early Childhood Epilepsy, Myoclonic	Myoclonic Epilepsy	CTD_human_DG	18469812		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	18469812		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	20876469, 21062273, 21204804, 21364700, 21770924, 22596016, 22709267, 23531706, 24095819, 24315539, 24814476, 25631041, 26280581, 26514728, 27184330, 29067685, 29191246, 29217410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early myoclonic encephalopathy	Myoclonic Encephalopathy	BEFREE	25779878		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	20876469, 21364700, 21762454, 22596016, 22722545, 23409955, 23533165, 23763664, 24170257, 24189369, 26344814, 26514728, 26865513, 28971703, 29067685, 29538625, 29718889, 29997391, 30266908, 30654231, 31221716, 31255830		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	24623842, 29929108, 33912281	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	19557857, 21204804, 21364700, 21762454, 21770924, 22596016, 22722545, 23409955, 23531706, 24095819, 24189369, 24315539, 25714420, 26212315, 26344814, 26395556, 26514728, 26818399, 26865513, 26963117, 27184330, 28971703, 29718889, 30266908, 30488659, 31015467, 31221716, 31387522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	21364700, 21770924, 22722545, 23531706, 25418441, 25914188, 26395556, 26795593, 28074849, 29056246, 29190809, 30977854, 31056551, 31344879, 31387522, 32105008, 33332765, 35851549, 38015929, 39456768, 40180227	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Epilepsy, Myoclonic, Infantile	Myoclonic Epilepsy	CTD_human_DG	18469812		★☆☆☆☆ Found in Text Mining only
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	BEFREE	24315539		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	21762454, 21770924, 23409955, 24095819, 24170257, 24189369, 24814476, 25418441, 26212315, 26280581, 26384463, 26865513, 28899818, 28971703, 29191246, 29718889, 29896790, 29897043		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	23531706, 26514728, 29896790, 32853554, 35851549, 36084525, 36571524, 36882827	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 4	Developmental and epileptic encephalopathy	Pubtator	24700782, 39456768	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	24623842, 26818399, 29929108		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21	Epileptic encephalopathy	CLINVAR_DG	20887364, 23409955, 25356970, 26384463, 26865513, 26993267		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy, Early Infantile, 4	Epileptic encephalopathy	UNIPROT_DG	18469812, 20887364, 21770924, 23662938, 23708187, 24170257, 24623842, 25714420, 25818041, 26993267, 27864847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic Encephalopathy, Early Infantile, 4	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	19557857, 29903433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic Encephalopathy, Early Infantile, 4	Epileptic encephalopathy	CLINVAR_DG	19557857, 20887364, 21762454, 21770924, 22612257, 23409955, 23662938, 23934111, 24189369, 24315539, 24781210, 25418441, 25497044, 25714420, 25818041, 26514728, 26795593, 26865513, 26993267, 27069701		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic Encephalopathy, Early Infantile, 4	Epileptic encephalopathy	BEFREE	29217410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic Encephalopathy, Early Infantile, 4	Epileptic encephalopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Clonic Seizures	Focal Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
FOXG1 syndrome	FOXG1 Syndrome	BEFREE	26344814		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	30240639		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20493457, 26514728, 28899818, 28971703, 31221716		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG	26865513		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Horizontal Nystagmus	Horizontal nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	31387522	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	39456768	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	18469812		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22596016, 29217410		★☆☆☆☆ Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	28792770		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	18469812		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	24623842, 26818399, 29929108		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	24623842		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	21762454		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG	26865513		★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	19557857, 21364700, 22722545, 23929658, 26212315, 26395556, 26514728, 31387522		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	21364700, 22722545, 26395556, 31387522, 32105008, 33176815, 33332765, 35851549	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Language Development Disorders	Language development disorders	Pubtator	35851549	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	31387522	Associate	★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	29426806		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	28899818		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	38136601	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19557857		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	BEFREE	25418441		★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	25418441	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25418441	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	16806828, 16829045, 17301226, 18469812, 19557857, 20196795, 20876469, 20887364, 21062273, 21204804, 21364700, 21762454, 21770924, 22495311, 22722545, 23020937, 23409955, 24623842, 24836964, 25621899, 25714420, 25914188, 26514728, 26537360, 26865513, 27184330, 9545644		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	22722545, 37583270	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	23763664		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	37848007	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29643704		★☆☆☆☆ Found in Text Mining only
Myoclonic Absence Epilepsy	Myotonia Levior	CTD_human_DG	18469812		★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	CTD_human_DG	18469812		★☆☆☆☆ Found in Text Mining only
Myoclonic Encephalopathy	Myoclonic Encephalopathy	CTD_human_DG	18469812		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	18469812		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	29897043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	6513926		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	31387522	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26740508, 26865513, 26963117, 28971703, 29191246, 29544889, 31387522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889, 29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obtundation status	Obtundation status	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29929108	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31221716		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	25418441	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	25418441		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Photosensitive tonic-clonic seizures	Photosensitive tonic-clonic seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26308735	Associate	★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	33176815	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	31344879	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	25714420, 29544889		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	25914188, 26740508, 31344879, 32105008	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome, Atypical	Rett Syndrome	ORPHANET_DG	25714420, 25914188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salaam Seizures	Salaam Seizures	BEFREE	20887364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salaam Seizures	Salaam Seizures	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	23340504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23340504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	21770924, 23409955, 33912281, 33951346, 35007884, 35190816, 35851549, 36882827, 38015929, 39456768	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	19557857		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Severe intellectual disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	21204804, 21762454, 23409955, 23531706, 29314583, 29896790, 31394400, 32773773, 33951346, 35007884, 35190816, 36279597, 37583270, 38015929	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Symptomatic Infantile Spasms	Symptomatic West syndrome	BEFREE	21204804		★☆☆☆☆ Found in Text Mining only
Symptomatic Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	18469812		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	21762454, 32105008, 33332765, 35851549	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22724020	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22722545	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	20493457, 20876469, 20887364, 21204804, 21762454, 22596016, 29314583, 29455050, 30488659		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West Syndrome	West Syndrome	ORPHANET_DG	21762454, 25497044		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West Syndrome	West Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked infantile spasms	Spasms X-Linked	BEFREE	18469812, 20493457, 20876469, 20887364, 21062273, 21204804, 21364700, 21770924, 21967765, 22596016, 22709267, 23531706, 23533165, 24095819, 24315539, 24814476, 25631041, 26280581, 26514728, 27184330, 29067685, 29191246, 29217410, 29544889		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINVAR_DG	20887364, 21762454, 23708187, 23934111, 24781210, 25693842, 25714420, 26514728, 26544041, 26865513, 26918652, 27779742		★☆☆☆☆ Found in Text Mining only