DCX (doublecortin)

Gene

• Entrez ID: 1641
• Gene name: Doublecortin
• Gene symbol: DCX
• Synonyms (NCBI Gene): DBCN, DC, LISX, SCLH, XLIS
• Chromosome: X
• Chromosome location: Xq23
• Summary: This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56030372	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs61729440	C>G	Pathogenic	Coding sequence variant, missense variant
rs104894779	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894780	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894781	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894782	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs104894783	T>G	Pathogenic	Coding sequence variant, missense variant
rs104894784	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs104894785	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894786	C>A	Pathogenic	Coding sequence variant, missense variant
rs122457137	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs201870761	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs267606317	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783518	T>C	Pathogenic	Splice acceptor variant
rs587783519	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783520	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783521	A>G	Pathogenic	Missense variant, coding sequence variant
rs587783522	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783523	C>A	Pathogenic	Missense variant, coding sequence variant
rs587783524	TCTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783525	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783526	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783527	C>T	Pathogenic	Missense variant, coding sequence variant
rs587783528	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783529	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783530	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783531	G>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs587783532	G>T	Pathogenic	Stop gained, coding sequence variant
rs587783533	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783534	G>A,C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783535	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783536	A>G	Pathogenic	Missense variant, coding sequence variant
rs587783537	A>C	Pathogenic	Missense variant, coding sequence variant
rs587783538	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783539	A>G	Pathogenic	Missense variant, initiator codon variant, coding sequence variant
rs587783540	C>T	Pathogenic	Missense variant, coding sequence variant
rs587783541	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587783542	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783544	C>T	Pathogenic	Missense variant, coding sequence variant
rs587783545	C>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs587783546	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783547	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783548	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783549	TGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs587783550	C>A	Pathogenic	Stop gained, coding sequence variant
rs587783551	A>G	Pathogenic	Missense variant, coding sequence variant
rs587783552	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783553	T>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587783554	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783555	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783556	ACTGTTGCTGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783557	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783558	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587783559	C>A	Pathogenic	Missense variant, coding sequence variant
rs587783560	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783561	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783562	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783563	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs587783564	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783565	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783566	G>C	Pathogenic	Missense variant, coding sequence variant
rs587783567	CACAGCCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783568	G>A,C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783569	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783570	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783571	G>T	Pathogenic	Missense variant, coding sequence variant
rs587783572	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783573	C>A	Pathogenic	Missense variant, coding sequence variant
rs587783574	A>G	Pathogenic	Missense variant, coding sequence variant
rs587783575	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783576	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783577	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587783578	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783579	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs587783580	A>G	Pathogenic	Missense variant, coding sequence variant
rs587783581	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783582	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783583	TCA>-	Pathogenic	Inframe deletion, coding sequence variant
rs587783584	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783585	C>A	Pathogenic	Missense variant, coding sequence variant
rs587783586	T>A	Pathogenic	Stop gained, coding sequence variant
rs587783587	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783588	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783589	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs587783590	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783591	T>A	Pathogenic	Stop gained, coding sequence variant
rs587783592	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783593	C>T	Pathogenic	Missense variant, coding sequence variant
rs727503898	C>A	Pathogenic	Stop gained, coding sequence variant
rs747557639	A>G,T	Likely-benign, likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs761786389	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs764964209	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs797045510	AA>-	Pathogenic	Stop gained, coding sequence variant
rs797045512	T>C	Pathogenic	Missense variant, coding sequence variant
rs797045513	->GTA	Likely-pathogenic	Inframe insertion, coding sequence variant
rs797045514	->G	Pathogenic	Frameshift variant, coding sequence variant
rs797045515	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045518	->TCCATCCAGAGTGTA	Pathogenic	Inframe insertion, coding sequence variant
rs797045519	->TAGGC	Pathogenic	Frameshift variant, coding sequence variant
rs797045520	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886039339	T>C	Pathogenic	Splice acceptor variant
rs886041736	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1064793735	C>-	Pathogenic	Coding sequence variant, splice donor variant
rs1064794223	G>A	Pathogenic	Coding sequence variant, stop gained
rs1085307851	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307919	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556376311	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1556401725	C>-	Pathogenic	Coding sequence variant, splice donor variant
rs1556401744	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556401951	C>A	Pathogenic	Missense variant, coding sequence variant
rs1556404991	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556405057	G>T	Pathogenic	Missense variant, coding sequence variant
rs1556405065	CAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556405129	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1569497266	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569498597	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1603423268	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001070	hsa-miR-128-3p	Luciferase reporter assay	19713529
MIRT001070	hsa-miR-128-3p	Luciferase reporter assay	19713529
MIRT001070	hsa-miR-128-3p	qRT-PCR, Western blot	19713529
MIRT001070	hsa-miR-128-3p	qRT-PCR, Western blot	19713529
MIRT001070	hsa-miR-128-3p	Luciferase reporter assay	19713529
MIRT659155	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT659154	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT659153	hsa-miR-1303	HITS-CLIP	23824327
MIRT615042	hsa-miR-4282	HITS-CLIP	23824327
MIRT615041	hsa-miR-6782-5p	HITS-CLIP	23824327
MIRT615040	hsa-miR-555	HITS-CLIP	23824327
MIRT615039	hsa-miR-1257	HITS-CLIP	23824327
MIRT615708	hsa-miR-6079	HITS-CLIP	23824327
MIRT615038	hsa-miR-1225-5p	HITS-CLIP	23824327
MIRT615037	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT615042	hsa-miR-4282	HITS-CLIP	23824327
MIRT615041	hsa-miR-6782-5p	HITS-CLIP	23824327
MIRT615040	hsa-miR-555	HITS-CLIP	23824327
MIRT615039	hsa-miR-1257	HITS-CLIP	23824327
MIRT615708	hsa-miR-6079	HITS-CLIP	23824327
MIRT615038	hsa-miR-1225-5p	HITS-CLIP	23824327
MIRT615037	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT615042	hsa-miR-4282	HITS-CLIP	23824327
MIRT615041	hsa-miR-6782-5p	HITS-CLIP	23824327
MIRT615040	hsa-miR-555	HITS-CLIP	23824327
MIRT615039	hsa-miR-1257	HITS-CLIP	23824327
MIRT615038	hsa-miR-1225-5p	HITS-CLIP	23824327
MIRT615037	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT457114	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT457113	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT457112	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT457111	hsa-miR-4419a	PAR-CLIP	23592263
MIRT457110	hsa-miR-4510	PAR-CLIP	23592263
MIRT457109	hsa-miR-6127	PAR-CLIP	23592263
MIRT457108	hsa-miR-6129	PAR-CLIP	23592263
MIRT457107	hsa-miR-6130	PAR-CLIP	23592263
MIRT457106	hsa-miR-6133	PAR-CLIP	23592263
MIRT457104	hsa-miR-6809-5p	PAR-CLIP	23592263
MIRT457103	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT457102	hsa-miR-8085	PAR-CLIP	23592263
MIRT457101	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT457100	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT457098	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT457099	hsa-miR-4651	PAR-CLIP	23592263
MIRT457097	hsa-miR-608	PAR-CLIP	23592263
MIRT457096	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT457095	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT457114	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT457113	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT457112	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT457111	hsa-miR-4419a	PAR-CLIP	23592263
MIRT457110	hsa-miR-4510	PAR-CLIP	23592263
MIRT457109	hsa-miR-6127	PAR-CLIP	23592263
MIRT457108	hsa-miR-6129	PAR-CLIP	23592263
MIRT457107	hsa-miR-6130	PAR-CLIP	23592263
MIRT457106	hsa-miR-6133	PAR-CLIP	23592263
MIRT457105	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT457104	hsa-miR-6809-5p	PAR-CLIP	23592263
MIRT457103	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT457102	hsa-miR-8085	PAR-CLIP	23592263
MIRT457101	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT457100	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT457098	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT457099	hsa-miR-4651	PAR-CLIP	23592263
MIRT457097	hsa-miR-608	PAR-CLIP	23592263
MIRT457096	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT457095	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT733605	hsa-miR-140-5p	Immunofluorescence, qRT-PCR, Western blotting	33987369
MIRT659155	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT659154	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT659153	hsa-miR-1303	HITS-CLIP	23824327
MIRT615042	hsa-miR-4282	HITS-CLIP	23824327
MIRT615041	hsa-miR-6782-5p	HITS-CLIP	23824327
MIRT615040	hsa-miR-555	HITS-CLIP	23824327
MIRT615039	hsa-miR-1257	HITS-CLIP	23824327
MIRT615708	hsa-miR-6079	HITS-CLIP	23824327
MIRT615038	hsa-miR-1225-5p	HITS-CLIP	23824327
MIRT615037	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT615042	hsa-miR-4282	HITS-CLIP	23824327
MIRT615041	hsa-miR-6782-5p	HITS-CLIP	23824327
MIRT615040	hsa-miR-555	HITS-CLIP	23824327
MIRT615039	hsa-miR-1257	HITS-CLIP	23824327
MIRT615708	hsa-miR-6079	HITS-CLIP	23824327
MIRT615038	hsa-miR-1225-5p	HITS-CLIP	23824327
MIRT615037	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT615042	hsa-miR-4282	HITS-CLIP	23824327
MIRT615041	hsa-miR-6782-5p	HITS-CLIP	23824327
MIRT615040	hsa-miR-555	HITS-CLIP	23824327
MIRT615039	hsa-miR-1257	HITS-CLIP	23824327
MIRT615038	hsa-miR-1225-5p	HITS-CLIP	23824327
MIRT615037	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT457114	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT457113	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT457112	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT457111	hsa-miR-4419a	PAR-CLIP	23592263
MIRT457110	hsa-miR-4510	PAR-CLIP	23592263
MIRT457109	hsa-miR-6127	PAR-CLIP	23592263
MIRT457108	hsa-miR-6129	PAR-CLIP	23592263
MIRT457107	hsa-miR-6130	PAR-CLIP	23592263
MIRT457106	hsa-miR-6133	PAR-CLIP	23592263
MIRT457104	hsa-miR-6809-5p	PAR-CLIP	23592263
MIRT457103	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT457102	hsa-miR-8085	PAR-CLIP	23592263
MIRT457101	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT457100	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT457098	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT457099	hsa-miR-4651	PAR-CLIP	23592263
MIRT457097	hsa-miR-608	PAR-CLIP	23592263
MIRT457096	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT457095	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT457114	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT457113	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT457112	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT457111	hsa-miR-4419a	PAR-CLIP	23592263
MIRT457110	hsa-miR-4510	PAR-CLIP	23592263
MIRT457109	hsa-miR-6127	PAR-CLIP	23592263
MIRT457108	hsa-miR-6129	PAR-CLIP	23592263
MIRT457107	hsa-miR-6130	PAR-CLIP	23592263
MIRT457106	hsa-miR-6133	PAR-CLIP	23592263
MIRT457105	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT457104	hsa-miR-6809-5p	PAR-CLIP	23592263
MIRT457103	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT457102	hsa-miR-8085	PAR-CLIP	23592263
MIRT457101	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT457100	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT457098	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT457099	hsa-miR-4651	PAR-CLIP	23592263
MIRT457097	hsa-miR-608	PAR-CLIP	23592263
MIRT457096	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT457095	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT928283	hsa-miR-1207-3p	CLIP-seq
MIRT928284	hsa-miR-124	CLIP-seq
MIRT928285	hsa-miR-1254	CLIP-seq
MIRT928286	hsa-miR-1256	CLIP-seq
MIRT928287	hsa-miR-1271	CLIP-seq
MIRT928288	hsa-miR-1285	CLIP-seq
MIRT928289	hsa-miR-1304	CLIP-seq
MIRT928290	hsa-miR-1321	CLIP-seq
MIRT928291	hsa-miR-182	CLIP-seq
MIRT928292	hsa-miR-2277-3p	CLIP-seq
MIRT928293	hsa-miR-24	CLIP-seq
MIRT928294	hsa-miR-3065-5p	CLIP-seq
MIRT928295	hsa-miR-3116	CLIP-seq
MIRT928296	hsa-miR-3122	CLIP-seq
MIRT928297	hsa-miR-3140-5p	CLIP-seq
MIRT928298	hsa-miR-3176	CLIP-seq
MIRT928299	hsa-miR-3187-5p	CLIP-seq
MIRT928300	hsa-miR-34a	CLIP-seq
MIRT928301	hsa-miR-34c-3p	CLIP-seq
MIRT928302	hsa-miR-34c-5p	CLIP-seq
MIRT928303	hsa-miR-3622b-5p	CLIP-seq
MIRT928304	hsa-miR-3655	CLIP-seq
MIRT928305	hsa-miR-3675-3p	CLIP-seq
MIRT928306	hsa-miR-3689a-3p	CLIP-seq
MIRT928307	hsa-miR-3689c	CLIP-seq
MIRT928308	hsa-miR-3691-3p	CLIP-seq
MIRT928309	hsa-miR-3913-5p	CLIP-seq
MIRT928310	hsa-miR-3922-3p	CLIP-seq
MIRT928311	hsa-miR-3926	CLIP-seq
MIRT928312	hsa-miR-3945	CLIP-seq
MIRT928313	hsa-miR-3978	CLIP-seq
MIRT928314	hsa-miR-4253	CLIP-seq
MIRT928315	hsa-miR-4263	CLIP-seq
MIRT928316	hsa-miR-4266	CLIP-seq
MIRT928317	hsa-miR-4284	CLIP-seq
MIRT928318	hsa-miR-4289	CLIP-seq
MIRT928319	hsa-miR-4499	CLIP-seq
MIRT928320	hsa-miR-449a	CLIP-seq
MIRT928321	hsa-miR-449b	CLIP-seq
MIRT928322	hsa-miR-4640-3p	CLIP-seq
MIRT928323	hsa-miR-4642	CLIP-seq
MIRT928324	hsa-miR-4684-5p	CLIP-seq
MIRT928325	hsa-miR-4704-5p	CLIP-seq
MIRT928326	hsa-miR-4712-3p	CLIP-seq
MIRT928327	hsa-miR-4728-5p	CLIP-seq
MIRT928328	hsa-miR-4739	CLIP-seq
MIRT928329	hsa-miR-4747-5p	CLIP-seq
MIRT928330	hsa-miR-4756-5p	CLIP-seq
MIRT928331	hsa-miR-4790-3p	CLIP-seq
MIRT928332	hsa-miR-4799-5p	CLIP-seq
MIRT928333	hsa-miR-506	CLIP-seq
MIRT928334	hsa-miR-513a-3p	CLIP-seq
MIRT928335	hsa-miR-541	CLIP-seq
MIRT928336	hsa-miR-542-3p	CLIP-seq
MIRT928337	hsa-miR-548ac	CLIP-seq
MIRT928338	hsa-miR-548ae	CLIP-seq
MIRT928339	hsa-miR-548aj	CLIP-seq
MIRT928340	hsa-miR-548am	CLIP-seq
MIRT928341	hsa-miR-548d-3p	CLIP-seq
MIRT928342	hsa-miR-548s	CLIP-seq
MIRT928343	hsa-miR-548x	CLIP-seq
MIRT928344	hsa-miR-548z	CLIP-seq
MIRT928345	hsa-miR-576-5p	CLIP-seq
MIRT928346	hsa-miR-612	CLIP-seq
MIRT928347	hsa-miR-616	CLIP-seq
MIRT928348	hsa-miR-622	CLIP-seq
MIRT928349	hsa-miR-628-5p	CLIP-seq
MIRT928350	hsa-miR-654-5p	CLIP-seq
MIRT928351	hsa-miR-659	CLIP-seq
MIRT928352	hsa-miR-875-3p	CLIP-seq
MIRT928353	hsa-miR-96	CLIP-seq
MIRT928354	hsa-miR-103a	CLIP-seq
MIRT928355	hsa-miR-107	CLIP-seq
MIRT928356	hsa-miR-1197	CLIP-seq
MIRT928357	hsa-miR-15a	CLIP-seq
MIRT928358	hsa-miR-15b	CLIP-seq
MIRT928359	hsa-miR-16	CLIP-seq
MIRT928360	hsa-miR-195	CLIP-seq
MIRT928361	hsa-miR-3127-5p	CLIP-seq
MIRT928362	hsa-miR-330-3p	CLIP-seq
MIRT928363	hsa-miR-3918	CLIP-seq
MIRT928364	hsa-miR-424	CLIP-seq
MIRT928365	hsa-miR-4274	CLIP-seq
MIRT928366	hsa-miR-4436b-3p	CLIP-seq
MIRT928367	hsa-miR-4474-3p	CLIP-seq
MIRT928319	hsa-miR-4499	CLIP-seq
MIRT928368	hsa-miR-4676-5p	CLIP-seq
MIRT928369	hsa-miR-4772-5p	CLIP-seq
MIRT928370	hsa-miR-497	CLIP-seq
MIRT928371	hsa-miR-575	CLIP-seq
MIRT928372	hsa-let-7a	CLIP-seq
MIRT928373	hsa-let-7b	CLIP-seq
MIRT928374	hsa-let-7c	CLIP-seq
MIRT928375	hsa-let-7d	CLIP-seq
MIRT928376	hsa-let-7e	CLIP-seq
MIRT928377	hsa-let-7f	CLIP-seq
MIRT928378	hsa-let-7g	CLIP-seq
MIRT928379	hsa-let-7i	CLIP-seq
MIRT928298	hsa-miR-3176	CLIP-seq
MIRT928380	hsa-miR-3914	CLIP-seq
MIRT928310	hsa-miR-3922-3p	CLIP-seq
MIRT928311	hsa-miR-3926	CLIP-seq
MIRT928381	hsa-miR-4433	CLIP-seq
MIRT928382	hsa-miR-4458	CLIP-seq
MIRT928383	hsa-miR-4459	CLIP-seq
MIRT928384	hsa-miR-4500	CLIP-seq
MIRT928385	hsa-miR-4643	CLIP-seq
MIRT928386	hsa-miR-4768-3p	CLIP-seq
MIRT928387	hsa-miR-4768-5p	CLIP-seq
MIRT928388	hsa-miR-501-3p	CLIP-seq
MIRT928389	hsa-miR-502-3p	CLIP-seq
MIRT928390	hsa-miR-548c-3p	CLIP-seq
MIRT928342	hsa-miR-548s	CLIP-seq
MIRT928348	hsa-miR-622	CLIP-seq
MIRT928391	hsa-miR-767-5p	CLIP-seq
MIRT928392	hsa-miR-98	CLIP-seq
MIRT1920400	hsa-miR-3143	CLIP-seq
MIRT1920401	hsa-miR-3157-5p	CLIP-seq
MIRT1920402	hsa-miR-4691-3p	CLIP-seq
MIRT1974950	hsa-miR-3920	CLIP-seq
MIRT1974951	hsa-miR-200b	CLIP-seq
MIRT1974952	hsa-miR-200c	CLIP-seq
MIRT1974953	hsa-miR-429	CLIP-seq
MIRT928387	hsa-miR-4768-5p	CLIP-seq
MIRT1974954	hsa-miR-513a-5p	CLIP-seq
MIRT928283	hsa-miR-1207-3p	CLIP-seq
MIRT2210363	hsa-miR-1224-3p	CLIP-seq
MIRT2210364	hsa-miR-1227	CLIP-seq
MIRT2210365	hsa-miR-1260	CLIP-seq
MIRT2210366	hsa-miR-1260b	CLIP-seq
MIRT2210367	hsa-miR-1280	CLIP-seq
MIRT928288	hsa-miR-1285	CLIP-seq
MIRT2210368	hsa-miR-1910	CLIP-seq
MIRT2210369	hsa-miR-2392	CLIP-seq
MIRT928293	hsa-miR-24	CLIP-seq
MIRT2210370	hsa-miR-3135	CLIP-seq
MIRT928299	hsa-miR-3187-5p	CLIP-seq
MIRT928303	hsa-miR-3622b-5p	CLIP-seq
MIRT1974950	hsa-miR-3920	CLIP-seq
MIRT928312	hsa-miR-3945	CLIP-seq
MIRT2210371	hsa-miR-4252	CLIP-seq
MIRT928314	hsa-miR-4253	CLIP-seq
MIRT928317	hsa-miR-4284	CLIP-seq
MIRT2210372	hsa-miR-455-3p	CLIP-seq
MIRT928322	hsa-miR-4640-3p	CLIP-seq
MIRT2210373	hsa-miR-4649-3p	CLIP-seq
MIRT2210374	hsa-miR-4793-3p	CLIP-seq
MIRT2210375	hsa-miR-508-5p	CLIP-seq
MIRT2210376	hsa-miR-532-3p	CLIP-seq
MIRT928336	hsa-miR-542-3p	CLIP-seq
MIRT928346	hsa-miR-612	CLIP-seq
MIRT2210377	hsa-miR-766	CLIP-seq
MIRT928283	hsa-miR-1207-3p	CLIP-seq
MIRT2210378	hsa-miR-2964a-3p	CLIP-seq
MIRT2210379	hsa-miR-4275	CLIP-seq
MIRT928385	hsa-miR-4643	CLIP-seq
MIRT928386	hsa-miR-4768-3p	CLIP-seq
MIRT928387	hsa-miR-4768-5p	CLIP-seq
MIRT2465177	hsa-miR-29a	CLIP-seq
MIRT2465178	hsa-miR-29b	CLIP-seq
MIRT2465179	hsa-miR-29c	CLIP-seq
MIRT2465180	hsa-miR-488	CLIP-seq
MIRT928337	hsa-miR-548ac	CLIP-seq
MIRT928338	hsa-miR-548ae	CLIP-seq
MIRT928339	hsa-miR-548aj	CLIP-seq
MIRT928340	hsa-miR-548am	CLIP-seq
MIRT928341	hsa-miR-548d-3p	CLIP-seq
MIRT928343	hsa-miR-548x	CLIP-seq
MIRT928344	hsa-miR-548z	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IDA	14741102
GO:0001764	Process	Neuron migration	IEA
GO:0005515	Function	Protein binding	IPI	21044950, 21516116, 24607389, 25416956, 30886144, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	TAS	11001923
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	TAS	11001923
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	9489699
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	TAS	9489699
GO:0008017	Function	Microtubule binding	IDA	14741102
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	IMP	27292316
GO:0019901	Function	Protein kinase binding	IPI	14741102
GO:0030154	Process	Cell differentiation	IEA
GO:0035082	Process	Axoneme assembly	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	14741102
GO:0043005	Component	Neuron projection	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA

Other IDs

• MIM: 300121
• HGNC: 2714
• e!Ensembl: ENSG00000077279

Protein

• UniProt ID: O43602
• Protein name: Neuronal migration protein doublecortin (Doublin) (Lissencephalin-X) (Lis-X)
• Protein function: Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May i
• PDB: 1MJD, 2BQQ, 2XRP, 4ATU, 5IKC, 5IN7, 5IO9, 5IOI, 5IP4, 6FNZ, 6REV, 6RF2, 6RF8, 6RFD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03607	DCX	71 → 133	Doublecortin	Family
  PF03607	DCX	198 → 257	Doublecortin	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in neuronal cells of fetal brain (in the majority of cells of the cortical plate, intermediate zone and ventricular zone), but not expressed in other fetal tissues. In the adult, highly expressed in the brain frontal l
• Sequence:

  MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRN
  GDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELE
  EGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPK
  LVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
  DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGP
  MRRSKSPADSGNDQDANGTSSSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDS
  LGDSM

• Sequence length: 365

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
Abnormal cerebral morphology	Pathogenic	rs2147635268, rs56030372	RCV002275900 RCV002274878	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal cortical gyration	Pathogenic; Likely pathogenic	rs797045520, rs797045518, rs587783579, rs797045515, rs797045514, rs797045513, rs797045512, rs797045519, rs797045510	RCV000193265 RCV000193000 RCV000195154 RCV000192741 RCV000194902 RCV000193684 RCV000192850 RCV000193837 RCV000193604	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormality of the nervous system	Pathogenic	rs2147276330	RCV001814326	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectopic tissue	Pathogenic; Likely pathogenic	rs587783518, rs587783592, rs587783591, rs587783590, rs587783589, rs587783588, rs587783587, rs587783586, rs587783585, rs587783584, rs587783583, rs587783582, rs587783581, rs587783580, rs587783579, rs587783578, rs587783576, rs587783575, rs587783574, rs587783573, rs587783572, rs587783571, rs104894782, rs587783570, rs587783569, rs587783568, rs587783567, rs587783566, rs587783565, rs587783563, rs587783562, rs587783561, rs587783560, rs587783558, rs587783557, rs587783556, rs587783555, rs587783554, rs587783553, rs587783552, rs587783551, rs587783550, rs587783549, rs587783548, rs587783547, rs587783546, rs587783545, rs587783542, rs201870761, rs587783540, rs587783538, rs587783537, rs587783536, rs61729440, rs104894785, rs104894784, rs587783535, rs587783534, rs587783533, rs587783532, rs587783531, rs587783530, rs587783528, rs587783527, rs122457137, rs587783526, rs587783525, rs587783524, rs587783523, rs587783522, rs587783521, rs587783520, rs587783519, rs587783593, rs587783564, rs587783539, rs104894780, rs56030372	RCV000145805 RCV000145895 RCV000145894 RCV000145893 RCV000145892 RCV000145891 RCV000145890 RCV000145889 RCV000145888 RCV000145887 RCV000145886 RCV000145885 RCV000145884 RCV000145883 RCV000145882 RCV000145881 RCV000145879 RCV000145878 RCV000145877 RCV000145876 RCV000145875 RCV000145874 RCV000145873 RCV000145872 RCV000145871 RCV000145868 RCV000145867 RCV000145865 RCV000145863 RCV000145862 RCV000145860 RCV000145858 RCV000145857 RCV000145856 RCV000145854 RCV000145853 RCV000145852 RCV000145851 RCV000145850 RCV000145849 RCV000145848 RCV000145847 RCV000145846 RCV000145845 RCV000145844 RCV000145843 RCV000145842 RCV000145841 RCV000145840 RCV000145839 RCV000145836 RCV000145835 RCV000145832 RCV000145830 RCV000145829 RCV000145828 RCV000145827 RCV000145826 RCV000145825 RCV000145824 RCV000145823 RCV000145822 RCV000145821 RCV000145820 RCV000145819 RCV000145818 RCV000145816 RCV000145815 RCV000145814 RCV000145813 RCV000145812 RCV000145811 RCV000145810 RCV000145809 RCV000145808 RCV000145807 RCV000145806 RCV000145896 RCV000145861 RCV000145831 RCV000145864 RCV000145869	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fucosidosis	Likely pathogenic	rs1556405057	RCV000625954	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Pathogenic; Likely pathogenic	rs587783592, rs104894784, rs1928574753	RCV001291056 RCV001291058 RCV001291057	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly type 1 due to doublecortin gene mutation	Likely pathogenic; Pathogenic	rs1921404698, rs2147263208, rs587783541, rs2147262801, rs61729440, rs2147263018, rs587783592, rs587783590, rs587783589, rs587783568, rs587783558, rs104894784, rs587783534, rs122457137, rs587783519, rs2524858685, rs2524859237, rs2524858642, rs797045512, rs2524835526, rs104894779, rs104894780, rs104894781, rs104894782, rs56030372, rs104894786, rs2524628032, rs1064794223, rs1556401744, rs1556401951, rs1556405129, rs761786389, rs1603423268, rs1921403332	RCV001788520 RCV001832796 RCV001706845 RCV001775265 RCV001842242 RCV002249856 RCV002250860 RCV003326123 RCV002285145 RCV000660394 RCV001781484 RCV005406846 RCV001775086 RCV002470773 RCV003991506 RCV004698827 RCV002290137 RCV002468886 RCV002471530 RCV001542722 RCV003128099 RCV000012355 RCV000012357 RCV000012359 RCV000012362 RCV000012364 RCV000012373 RCV000012375 RCV003320008 RCV003315243 RCV000504055 RCV000501007 RCV000656086 RCV000585839 RCV000760181 RCV000984506 RCV001250735	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic	rs104894782	RCV001778649	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Subcortical band heterotopia	Pathogenic	rs2147263186	RCV002272910	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Subcortical laminar heterotopia, X-linked	Likely pathogenic; Pathogenic	rs104894779, rs104894780, rs104894781, rs122457137, rs104894782, rs1569498597, rs1569497266, rs104894784, rs104894785, rs56030372, rs104894786, rs1556401725, rs1556401744, rs1556404991, rs1921403332	RCV000012356 RCV000012358 RCV000012360 RCV000012363 RCV000012365 RCV000012368 RCV000012370 RCV000012371 RCV000012372 RCV000012374 RCV000012376 RCV000504479 RCV000012369 RCV000503117 RCV001844855	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DCX-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY SPECTRUM DISORDERS	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY, X-LINKED, 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	36513788	Associate	★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	BEFREE	18685874, 22833188		★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27324898		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29326641		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28883702		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30075193		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30075193		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
BAND HETEROTOPIA	Band Heterotopia	BEFREE	12027577, 17283321, 19144832		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	21916995	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28621231		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	19050731	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	21275797	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	30178326		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	16195916		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29297310		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39232464	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28621231		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28883702	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	16538086		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20453463, 28007584, 30617211, 30899379		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	10915612, 12027577, 16100463, 19050731, 23365099, 25140959, 28440899, 38402847, 9489700	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical Lissencephalies and Subcortical Band Heterotopias	Classical Lissencephalies and Subcortical Band Heterotopias	BEFREE	27292316		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical Lissencephalies and Subcortical Band Heterotopias	Classical Lissencephalies and Subcortical Band Heterotopias	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical Lissencephaly	Lissencephaly	BEFREE	10494089, 10807542, 10859564, 10987567, 11071144, 11262729, 11468322, 11579436, 14617417, 19050731, 23365099, 28440899, 28924182, 31727776, 9668176, 9783706, 9817918		★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28937253		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28007902		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Fleck	Corneal dystrophy	Pubtator	19583781	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	10369164		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30931101		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30931101		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29147492, 29471869		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	35676735	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysembryoplastic neuroepithelial tumor	Dysembryoplastic Neuroepithelial Tumor	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	16195916, 16520969		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	12027577, 12034802, 16806828, 19144832, 19444485, 19583780, 20570072, 30005693, 9783706		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	12027577, 20888264	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	12838518		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	20888264	Inhibit	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	30005693	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	BEFREE	12838518		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	28713955, 30005693		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	19583780, 19583781		★☆☆☆☆ Found in Text Mining only
Fucosidase Deficiency Disease	Fucosidase Deficiency Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	12200628, 16195916, 16520969		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	16520969		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16195916, 17178868		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16195916, 17178868, 23284888, 28634226		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16195916, 17178868, 19094064		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17178868, 18415660		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18492260, 23846421, 34948016	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	30443988		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	11748497		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29436670		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28937253, 29573847, 30979500		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	16806828		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10493832, 12838518, 19144832, 28007902, 9783706		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	12838518		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24253858	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	20726879		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	29393203		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30019708		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	10391212, 10430413, 10807542, 11389474, 11749114, 12034802, 12185771, 15719169, 15816977, 15921228, 16538086, 16724181, 18075264, 18685874, 19050731, 19380077, 20466733, 20688183, 22408144, 22833188, 23365099, 23583063, 25817838, 26743950, 28924182, 29717716, 9489699		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	Pubtator	10391212, 10915612, 12027577, 19050731, 20466733, 20726879, 23365099, 29671837, 9489699	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly and agenesis of corpus callosum	Lissencephaly, X-linked	BEFREE	10807542, 9618162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly and agenesis of corpus callosum	Lissencephaly	Pubtator	9489699	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly and agenesis of corpus callosum	Lissencephaly, X-linked	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly type 1 due to doublecortin gene mutation	Lissencephaly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly, X-Linked, 1	Lissencephaly, X-Linked	UNIPROT_DG	10369164, 10441340, 10807542, 11175293, 11468322, 11601509, 12390976, 12552055, 27292316, 9489699, 9489700, 9618162, 9668176, 9817918, 9989615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, X-Linked, 1	Lissencephaly, X-Linked	BEFREE	10915612, 9489700, 9817918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, X-Linked, 1	Lissencephaly, X-Linked	CLINVAR_DG	29706646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, X-Linked, 1	Lissencephaly, X-Linked	GENOMICS_ENGLAND_DG	9489700		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, X-Linked, 1	Lissencephaly, X-Linked	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	BEFREE	24179174		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	32570172	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	28953922, 34211111	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	16385449, 22833188, 9668176		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	CLINVAR_DG	29706646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29297310		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31442435		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28621231		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17178868, 28621231, 28701917, 31075231, 31442435		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25953317	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	28358903		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10493832, 12838518, 19144832, 9783706		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	28560410		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	12034802		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	10430413		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	16195916		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15714065, 16195916, 16520969, 17178868, 19094064, 23846421, 25948779, 26468984, 28560410, 29048622		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	35676735	Associate	★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	16195916, 16520969		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15714065, 18702176, 19713529, 22490379, 23417100, 24590653, 27734578		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18230156	Associate	★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	16520969		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	28693243		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	19380077		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	16195916, 16520969		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	31646556	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	BEFREE	18685874, 20726879, 25140959, 26743950, 30979500		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28883702, 31442435		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28883702		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28883702	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	16538086, 25140959		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	16195916, 16520969		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22733135, 31092925		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	10391212, 32565670	Associate	★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 1	Retinitis Pigmentosa	BEFREE	15933747		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21966452		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34911938	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	12027577	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	26743950, 9783706		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	30459554		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29512697, 31704249		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25228975		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30459553		★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	BEFREE	10369164, 10807542, 10915612, 10987567, 11071144, 11262729, 11468322, 11579436, 11749114, 12034802, 12185771, 12552055, 12838518, 14617417, 15101838, 15719169, 15816977, 15921228, 16100463, 16530423, 16538086, 16724181, 19050731, 19380077, 19619967, 22408144, 22727374, 22833188, 23365099, 23583063, 25140959, 25817838, 26743950, 27292316, 28440899, 29717716, 30689978, 9489700, 9747029, 9989615		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Subcortical Band Heterotopia	Subcortical Band Heterotopia	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Subcortical Band Heterotopia	Subcortical Band Heterotopia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Subependymal Giant Cell Astrocytoma	Astrocytoma	BEFREE	12731003		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12390976		★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	19619967		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	12731003, 19583781		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	19583781	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	16195916, 16520969		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	16806828		★☆☆☆☆ Found in Text Mining only
X-Linked Lissencephaly	Lissencephaly, X-Linked	BEFREE	10369164, 10826984, 10915612, 16100463, 16530423, 18685874, 19619967, 20688183, 27292316, 9489700, 9747029, 9783706, 9989615		★☆☆☆☆ Found in Text Mining only
X-Linked Lissencephaly	Lissencephaly, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only