Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6326
Gene name	Sodium voltage-gated channel alpha subunit 2
Gene symbol	SCN2A
Synonyms (NCBI Gene)	BFIC3BFIS3BFNISDEE11EA9EIEE11HBAHBSCIHBSCIINAC2Na(v)1.2Nav1.2SCN2A1SCN2A2
Chromosome	2
Chromosome location	2q24.3
Summary	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium

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Show/Hide all (239)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6706924	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs121917748	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121917749	C>T	Pathogenic	Coding sequence variant, missense variant
rs121917750	C>G	Pathogenic	Coding sequence variant, missense variant
rs121917751	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121917752	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant, genic upstream transcript variant
rs121917753	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121917754	C>A	Pathogenic	Coding sequence variant, missense variant
rs138497939	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs139815570	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs141153302	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142128956	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs143765389	A>G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs144325450	C>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144814658	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs147084515	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147522594	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149534277	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant
rs149859004	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs181327458	C>A,T	Pathogenic	Synonymous variant, genic upstream transcript variant, coding sequence variant, stop gained
rs184769423	A>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs185590667	T>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs187731029	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs190111194	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs191955969	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200138205	G>A,C	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs200603552	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs367546924	C>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs368887417	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs373913233	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs377063535	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906683	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs387906684	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs387906685	A>C,G	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs387906686	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs387906687	A>G	Pathogenic	Initiator codon variant, genic upstream transcript variant, coding sequence variant, missense variant
rs529842407	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs558887330	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs561375550	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs571408286	C>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587780450	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs746163041	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs752845880	T>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs755003900	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs767592553	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs786205635	TACT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs794727003	C>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs794727152	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs794727444	G>A,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053113	G>T	Pathogenic	Splice donor variant
rs796053114	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053115	G>A	Pathogenic	Coding sequence variant, missense variant
rs796053116	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053118	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053119	G>C	Pathogenic	Coding sequence variant, missense variant
rs796053120	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053122	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs796053124	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053126	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs796053128	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796053129	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053130	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053131	T>A	Pathogenic	Coding sequence variant, missense variant
rs796053132	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053133	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053134	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs796053135	A>G	Pathogenic	Coding sequence variant, missense variant
rs796053136	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053137	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs796053138	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs796053140	A>G	Likely-pathogenic	Intron variant
rs796053143	T>A,G	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs796053144	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053149	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053150	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053151	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053152	T>C	Pathogenic	Coding sequence variant, missense variant
rs796053154	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053155	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053156	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053157	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs796053160	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053162	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053166	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, missense variant, synonymous variant
rs796053169	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs796053171	G>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs796053175	G>C,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053178	C>G,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs796053180	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053181	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053182	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053183	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053184	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs796053192	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs796053193	ATT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs796053194	GAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs796053196	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs796053197	C>T	Pathogenic	Coding sequence variant, missense variant
rs796053198	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs796053203	T>G	Pathogenic-likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, missense variant
rs796053206	GC>TT	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs797045942	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797045943	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs869312663	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs869312664	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs879253767	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886039461	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886039648	G>A	Pathogenic	Splice donor variant
rs886039710	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs886041259	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs886043250	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1057517853	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517854	T>C	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1057518048	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518111	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518117	G>A,C,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1057518373	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518658	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519010	GGAGTGAATCTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519523	A>G	Pathogenic	Missense variant, coding sequence variant
rs1057519524	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519525	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1057519526	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519527	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519528	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1057519617	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057520413	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057520844	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057521223	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1057521747	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs1057523696	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523734	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523786	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524059	G>T	Pathogenic	Missense variant, coding sequence variant
rs1057524164	A>G,T	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057524573	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1060503101	C>T	Pathogenic	Missense variant, coding sequence variant
rs1060503102	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064793850	TGGCAATTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794005	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs1064794721	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794730	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1064795014	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064795018	C>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1064795159	C>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1064795576	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064795832	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796123	AG>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1064796203	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796620	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796691	T>G	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1085307500	C>T	Pathogenic	Coding sequence variant, stop gained
rs1085307541	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307542	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307898	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691361	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691466	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691927	G>C	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1135401811	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1177406324	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1287017958	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1553461660	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553461662	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553462134	C>A,G,T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1553462224	C>-	Pathogenic	Stop gained, coding sequence variant
rs1553462227	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553463032	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553463074	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553463096	G>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs1553463119	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1553463464	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553463513	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553463516	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553463594	A>T	Pathogenic	Coding sequence variant, missense variant
rs1553463602	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553463718	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553463775	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553463850	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553564139	A>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, initiator codon variant, missense variant
rs1553564144	C>G	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1553564400	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1553567304	A>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1553567347	C>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1553567473	A>G	Pathogenic-likely-pathogenic	Genic upstream transcript variant, missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553567561	T>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553567864	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1553568045	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553568927	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553568999	G>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1553569054	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1553569662	AGAA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553569739	CA>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553571901	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1553574522	T>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1553574729	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553574733	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553578503	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553579225	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1553579282	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553579305	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553579488	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553579500	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553583550	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553583659	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553583712	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553584053	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553590192	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553593030	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553593578	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553593589	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553593676	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558885489	C>G	Pathogenic	Coding sequence variant, missense variant
rs1558885691	GTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558886168	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559352550	A>G	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs1559353540	AGGATAAAAG>-	Pathogenic	Coding sequence variant, splice donor variant, genic upstream transcript variant
rs1559376694	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574525321	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs1574554892	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1574556643	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, intron variant
rs1574567728	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs1574571769	A>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1574611024	A>G	Pathogenic	Coding sequence variant, missense variant
rs1574636716	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1574641366	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1574641522	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574641605	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574691534	AACAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1574697769	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574716488	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1574716524	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1574731232	T>G	Pathogenic	Stop gained, coding sequence variant
rs1574731380	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574746733	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574746759	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574746935	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574751309	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1574752700	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574754680	C>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (60)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029544	hsa-miR-26b-5p	Microarray	19088304
MIRT1329791	hsa-miR-3545-3p	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT1329793	hsa-miR-4680-5p	CLIP-seq
MIRT1329794	hsa-miR-1205	CLIP-seq
MIRT1329795	hsa-miR-1286	CLIP-seq
MIRT1329796	hsa-miR-200b	CLIP-seq
MIRT1329797	hsa-miR-200c	CLIP-seq
MIRT1329798	hsa-miR-217	CLIP-seq
MIRT1329799	hsa-miR-30a	CLIP-seq
MIRT1329800	hsa-miR-30b	CLIP-seq
MIRT1329801	hsa-miR-30c	CLIP-seq
MIRT1329802	hsa-miR-30d	CLIP-seq
MIRT1329803	hsa-miR-30e	CLIP-seq
MIRT1329804	hsa-miR-3163	CLIP-seq
MIRT1329805	hsa-miR-3646	CLIP-seq
MIRT1329806	hsa-miR-3662	CLIP-seq
MIRT1329807	hsa-miR-369-3p	CLIP-seq
MIRT1329808	hsa-miR-374a	CLIP-seq
MIRT1329809	hsa-miR-374b	CLIP-seq
MIRT1329810	hsa-miR-4275	CLIP-seq
MIRT1329811	hsa-miR-429	CLIP-seq
MIRT1329812	hsa-miR-4418	CLIP-seq
MIRT1329813	hsa-miR-4426	CLIP-seq
MIRT1329814	hsa-miR-4647	CLIP-seq
MIRT1329815	hsa-miR-4662b	CLIP-seq
MIRT1329816	hsa-miR-4722-5p	CLIP-seq
MIRT1329817	hsa-miR-499-3p	CLIP-seq
MIRT1329818	hsa-miR-499a-3p	CLIP-seq
MIRT1329819	hsa-miR-509-3-5p	CLIP-seq
MIRT1329820	hsa-miR-509-5p	CLIP-seq
MIRT1329821	hsa-miR-633	CLIP-seq
MIRT2097751	hsa-miR-1271	CLIP-seq
MIRT2097752	hsa-miR-132	CLIP-seq
MIRT2097753	hsa-miR-136	CLIP-seq
MIRT2097754	hsa-miR-182	CLIP-seq
MIRT2097755	hsa-miR-212	CLIP-seq
MIRT2097756	hsa-miR-223	CLIP-seq
MIRT2097757	hsa-miR-3684	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT2097758	hsa-miR-4642	CLIP-seq
MIRT2097759	hsa-miR-96	CLIP-seq
MIRT2097751	hsa-miR-1271	CLIP-seq
MIRT2097752	hsa-miR-132	CLIP-seq
MIRT2097754	hsa-miR-182	CLIP-seq
MIRT2097755	hsa-miR-212	CLIP-seq
MIRT2097756	hsa-miR-223	CLIP-seq
MIRT2097757	hsa-miR-3684	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT2097758	hsa-miR-4642	CLIP-seq
MIRT2097759	hsa-miR-96	CLIP-seq
MIRT2097751	hsa-miR-1271	CLIP-seq
MIRT2097752	hsa-miR-132	CLIP-seq
MIRT2097754	hsa-miR-182	CLIP-seq
MIRT2097755	hsa-miR-212	CLIP-seq
MIRT2097756	hsa-miR-223	CLIP-seq
MIRT2097757	hsa-miR-3684	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT2097758	hsa-miR-4642	CLIP-seq
MIRT2097759	hsa-miR-96	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	1325650
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	17021166, 28256214, 29844171
GO:0005248	Function	Voltage-gated sodium channel activity	ISS
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	36950384
GO:0005516	Function	Calmodulin binding	IMP	25232683
GO:0005886	Component	Plasma membrane	IDA	1325650, 17021166, 29844171
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	ISS
GO:0007399	Process	Nervous system development	ISS
GO:0007613	Process	Memory	ISS
GO:0008627	Process	Intrinsic apoptotic signaling pathway in response to osmotic stress	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0019228	Process	Neuronal action potential	IMP	17021166, 29844171
GO:0019228	Process	Neuronal action potential	ISS
GO:0030424	Component	Axon	TAS	16652168
GO:0033268	Component	Node of Ranvier	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042552	Process	Myelination	ISS
GO:0051402	Process	Neuron apoptotic process	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA

MIM	HGNC	e!Ensembl
182390	10588	ENSG00000136531

Q99250

Protein name

Sodium channel protein type 2 subunit alpha (HBSC II) (Sodium channel protein brain II subunit alpha) (Sodium channel protein type II subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.2)

Protein function

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) io

PDB

2KAV , 4JPZ , 4RLY , 6BUT , 6J8E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	128 → 436	Ion transport protein	Family
PF11933	Na_trans_cytopl	505 → 709	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	758 → 993	Ion transport protein	Family
PF06512	Na_trans_assoc	997 → 1203	Sodium ion transport-associated	Family
PF00520	Ion_trans	1207 → 1483	Ion transport protein	Family
PF00520	Ion_trans	1530 → 1787	Ion transport protein	Family

Sequence

MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGK
SLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRK
LAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFC
LEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGA
LIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSL
DGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNP
NYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLI
LAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGI
GVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFS
LEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHST
FEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGP
STLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEE
SRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEH
YPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGL
ANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGM
QLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCL
TVFMMVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRK
IREFIQKAFVRKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGS
SVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSS
SEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKT
CYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLK
WVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRF
EGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVV
NNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQ
PKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNA
MKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMT
NILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFV
SPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMS
NFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGS
SVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYE
VWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFA
FTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYL
LKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTK
PEKEKFEKDKSEKEDKGKDIRESKK

Sequence length

2005

Interactions

View interactions

	KEGG		Reactome
	Taste transduction		Phase 0 - rapid depolarisation

101

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)

Show/Hide Causal Diseases (45)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral morphology	Likely pathogenic	rs2105336825	RCV002275921	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Pathogenic	rs181327458, rs1057518658	RCV004698483 RCV000414894	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic; Likely pathogenic	rs1553568833, rs2467933702, rs1553578503	RCV003155987 RCV003128027 RCV003126828	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorder with Intellectual Disability	Likely pathogenic	rs1135401811	RCV000496101	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Benign familial infantile epilepsy	Pathogenic; Likely pathogenic	rs1553462132, rs2105247262, rs1553463038, rs1553569010, rs2105276771, rs2105402019, rs121917752, rs121917753	RCV001847361 RCV001847365 RCV001847370 RCV001847371 RCV001847372 RCV001847373 RCV001847597 RCV001847599 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign familial neonatal-infantile seizures 1	Pathogenic; Likely pathogenic	rs796053137, rs1057524573	RCV003325951 RCV003233637	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Benign Neonatal Epilepsy	Pathogenic	rs1057520413	RCV001848748	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
benign sporadic infantile epilepsy	Likely pathogenic; Pathogenic	rs2468158980, rs121917753	RCV003155984 RCV003155910	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
benign sporadic neonatal-infantile epilepsy	Likely pathogenic	rs2468008621	RCV003155988	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs1697364931, rs2105373027, rs2105398463, rs2105247122, rs1553463038, rs2105255398, rs2105403536, rs587780450, rs1553463772, rs1702001950, rs2468159089, rs867663974, rs794727152, rs794727444, rs796053171 View all (82 more)	RCV002319707 RCV002319727 RCV002319728 RCV002319729 RCV003483838 View all (97 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy	Pathogenic; Likely pathogenic	rs2105255913, rs1701579057, rs2105385811, rs2105402260, rs2105384694, rs2105255370, rs2105373027, rs2105403389, rs2105398463, rs2105385886, rs1702008323, rs2105402821, rs1317894002, rs1553568970, rs2105402331 View all (16 more)	RCV001847342 RCV001847344 RCV001847347 RCV001847349 RCV001847350 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 11	Likely pathogenic; Pathogenic	rs1698670041, rs1553593578, rs2105243497, rs2105385817, rs527688117, rs2105247156, rs1697364931, rs796053180, rs2105259788, rs1553591818, rs2105385903, rs1365774406, rs2105398613, rs1558879863, rs2106151184 View all (297 more)	RCV001313471 RCV001350212 RCV001378217 RCV001379759 RCV001377133 View all (330 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 30	Likely pathogenic; Pathogenic	rs796053126	RCV003155928	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Pathogenic; Likely pathogenic	rs181327458, rs1057520844	RCV003126573 RCV003126721	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia 12	Likely pathogenic	rs1057518117	RCV001838624	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs1553567864	RCV004017661	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy of infancy with migrating focal seizures	Pathogenic; Likely pathogenic	rs2105373034, rs2468008587, rs796053126, rs796053157, rs1553463427	RCV001731220 RCV003155983 RCV001847840 RCV003155929 RCV001847232	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs794727444, rs796053130, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs387906686, rs1574525321	RCV000417008 RCV000416964 RCV000416970 RCV000417026 RCV000417028 RCV000417035 RCV000416960 RCV001027536 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy, infantile or early childhood	Pathogenic	rs2467902376	RCV003226148	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Episodic ataxia, type 9	Likely pathogenic; Pathogenic	rs2467890325, rs2468150164, rs1553463427, rs796053166, rs1415376277, rs121917751, rs2468126249, rs2468157758, rs1432208282, rs121917753, rs1057520413, rs387906683, rs387906684, rs387906686, rs190111194 View all (10 more)	RCV002281615 RCV002281616 RCV001200928 RCV001200926 RCV003314426 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal epilepsy	Likely pathogenic	rs1057519525	RCV000416990	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy with febrile seizures plus	Pathogenic	rs2105259847	RCV001847374	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs796053157	RCV005625409	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs1574567728	RCV001003953	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary episodic ataxia	Likely pathogenic; Pathogenic	rs796053124	RCV000417104	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
History of neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1553567409	RCV000720902	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile spasms	Likely pathogenic; Pathogenic	rs2468008251, rs2468096296, rs387906686, rs1553579488, rs1553567561	RCV003155982 RCV003155986 RCV003155911 RCV003155947 RCV001034608	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
intellectual deficiency	Likely pathogenic	rs1057519010	RCV000415077	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1057524573, rs796053138, rs1553567864, rs1697224468, rs1698166561, rs1700956378, rs1701224556, rs1702008760, rs1702012175, rs1698674881	RCV003233637 RCV001257715 RCV001257708 RCV001255323 RCV001257732 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant	Pathogenic	rs1057519617	RCV000418127	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant migrating partial seizures of infancy	Pathogenic; Likely pathogenic	rs1057519523, rs1574556643	RCV000416998 RCV002283516	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1553463775	RCV000850476	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Movement disorder	Likely pathogenic	rs1574567728	RCV001003953	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2105259560, rs2468081746	RCV002274408 RCV002466355	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs387906683	RCV001374900	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-syndromic intellectual disability	Pathogenic	rs2467838766	RCV002466356	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN2A-associated neurodevelopmental disorders	Pathogenic	rs1365774406	RCV005646783	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN2A-related disorder	Likely pathogenic; Pathogenic	rs796053124, rs2105384764, rs1702006258, rs796053132, rs796053126, rs796053155, rs796053162, rs797045942, rs2467934415, rs2467886070, rs2467890286, rs2467887062, rs2467886849, rs2468008210, rs2467895421 View all (12 more)	RCV001825002 RCV003985515 RCV003985522 RCV004729112 RCV005250033 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SCN2A-related generalized epilepsy with febrile seizures plus	Pathogenic; Likely pathogenic	rs796053137, rs796053157, rs1064794005, rs1702008866	RCV003325951 RCV005401370 RCV003313080 RCV001270747	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1702006258, rs794727444, rs796053124, rs797045942, rs121917752, rs1060503101, rs796053138, rs1574567728, rs1057520413	RCV001849841 RCV001849328 RCV000417104 RCV000193985 RCV002274897 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures, benign familial infantile, 3	Likely pathogenic; Pathogenic	rs1698670041, rs1702008208, rs1553593578, rs2105243497, rs2105385817, rs527688117, rs2105247156, rs1697364931, rs796053180, rs2105259788, rs1553591818, rs2105385903, rs1365774406, rs2105398613, rs2105251438 View all (241 more)	RCV001313471 RCV001329201 RCV001350212 RCV001378217 RCV001379759 View all (269 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1553574522	RCV000655980	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
unclassified developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2468157815, rs1553568833, rs1057520413, rs1553462227	RCV003155985 RCV003155987 RCV003155938 RCV003155954	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vertigo	Likely pathogenic; Pathogenic	rs796053124	RCV000417104	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West syndrome	Pathogenic; Likely pathogenic	rs2105255913, rs2105384629, rs1702015681, rs2105385811, rs2105402711, rs2105373027, rs2105403389, rs2105398463, rs2105385886, rs2105247416, rs1702008323, rs2105403544, rs1553568990, rs2105247122, rs794727152 View all (7 more)	RCV001847342 RCV001847343 RCV001847345 RCV001847346 RCV001847348 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (56)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL INFANTILE SEIZURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 76	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRAVET SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ 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	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, BENIGN NEONATAL, 3	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile seizure (within the age range of 3 months to 6 years)	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiplegia/hemiparesis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyridoxine-dependent epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN2A-mediated disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FEBRILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myoclonic epilepsy in infancy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (224)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute encephalopathy	Encephalopathy	BEFREE	22591750, 25457084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute encephalopathy with biphasic seizures and late reduced diffusion	Encephalopathy With Biphasic Seizures And Diffusion	BEFREE	25156649, 26311622		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	3676514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	38097767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	941904	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	24168396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	28087622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30288849		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	31230762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	31230762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	37597357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23849776, 24650168, 26637798, 27824329, 27956748, 28256214, 28714951, 29929112, 30071822, 30392976, 30813884, 31272037, 32918531, 33460646, 34894057 View all (6 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorder	Autism	Pubtator	32193494	Stimulate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23849776, 24650168, 26637798, 27956748, 28256214, 28714951, 28831199, 29929112, 30071822, 30928199, 31230762, 31272037, 31501495		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	15316014, 26196440, 26555645, 26749308, 27824329, 29929112, 30698461, 31272037, 31437449, 32918531, 33731876, 35205412, 35637276, 35982159, 37010102, 38148154, 38564633, 39596607 View all (3 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	24579881, 26196440, 26555645, 29929112, 31230762		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	16464983, 23708187, 29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign familial infantile epilepsy	Epilepsy	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign familial neonatal-infantile seizures	Seizure	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	Beta thalassemia	Pubtator	10861818, 19298727, 32172616, 6655669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	35260864, 40562893	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Brain atrophy	BEFREE	24710820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	19786696, 23566103, 23758435, 24710820, 25818041, 26291284, 28518218, 28817111, 29186148, 29466837, 29844171, 29929112, 30813884, 31995133, 32400968 View all (5 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31320627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30217455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25175566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	26647175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	24710820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25175566, 28608001		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	23849776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	24710820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	32400968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	31805306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	25078150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25078150	Associate	★★★★★ ★☆☆☆☆ 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 CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	BEFREE	31497877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Convulsions in the newborn	Convulsions	BEFREE	20384724, 26645390, 27153334, 30361185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	28254201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	36698099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26993267, 28256214, 28714951, 28867142, 29929112, 31056551, 33460646, 33779092, 34287911, 35417276, 35803560, 37578743, 38148154	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	29929112		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29805089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19687586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29805089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31127053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30204471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dravet syndrome	Dravet Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10198179, 11245985, 1325650, 15048894, 15101391, 15249644, 1658739, 1658783, 17386050, 17467289, 18479388, 18809926, 19786696, 20006674, 20196795 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	38255008	Associate	★★★★★ ★☆☆☆☆ 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	BEFREE	23550958, 23935176, 24814476, 29625812, 30185235, 30415926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	23550958, 23935176		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	24710820, 25457084, 26311622, 27876397, 28254201, 28709814, 28817111, 29625812, 29778428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	15028761, 21204806, 29314583, 31439038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	19786696, 24157691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	LHGDN	15028761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsies, Partial	Epilepsy	BEFREE	31707316		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsies, Partial	Epilepsy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	12610651, 15048894, 15618878, 16464983, 18242854, 18479388, 19513789, 19694741, 19786696, 20351042, 20384724, 21402906, 21893419, 22029951, 22677033 View all (33 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	LHGDN	15028761, 16464983, 18479388		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CTD_human_DG	16464983, 23708187, 29942082		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	18242854, 19694741, 19786696, 21893419, 23550958, 23566103, 23849776, 24157691, 24220630, 24659627, 26291284, 26555645, 28087622, 28837158, 29056246 View all (28 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CLINVAR_DG	20956790		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Absence	Absence epilepsy	Pubtator	28518218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	14738422, 16417554, 17386050, 18479388, 20384724, 21204806, 21893419, 23360469, 23566103, 23758435, 24659627, 24710820, 25982755, 29215089, 29844171, 30813219, 30813884, 32750235 View all (3 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal 3	Benign neonatal epilepsy	Pubtator	16417554, 16822249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	15028761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	15028761, 20041941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	24220630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	BEFREE	17049761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Benign Neonatal, 3	Epilepsy, Benign	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	16464983, 23708187, 29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	16302874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	17715289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	16914293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	24220630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	23758435, 26291284, 27867041, 28254201, 28709814, 29625812, 29929112, 30813884		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	29844171, 30813884, 31995133, 32400968, 33779092, 34287911, 35803560, 35886038, 36029553, 36361691, 36571524, 37597357, 38148154, 38479087, 39285222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	15028761, 24579881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11	Epileptic encephalopathy	CLINVAR_DG	15048894, 19786696, 23360469, 23935176, 25772804, 26648591, 26993267, 27781031, 27824329, 27867041, 28379373, 28554332, 29186148, 29215089		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11	Epileptic encephalopathy	UNIPROT_DG	19783390, 19786696, 20956790, 22677033, 23033978, 23195492, 23550958, 23662938, 23708187, 23935176, 23988467, 24463883, 24579881, 24659627, 24710820 View all (12 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	17049761, 19783390, 21156207, 21204806, 21893419, 22029951, 26311622, 28880996, 30415926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	20956790, 26645390, 27328862, 30928199		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	CLINVAR_DG	20956790		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic ataxia	Pubtator	30314295, 34894057	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia Type 2	Episodic ataxia	Pubtator	30314295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	ORPHANET_DG	12243921, 23360469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	15048894, 16417554, 17386050, 18479388, 18479394, 19783390, 20371507, 20956790, 21204806, 22029951, 23566103, 23758435, 24710820, 25982755, 30144217, 30415926 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	GENOMICS_ENGLAND_DG	30712878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	12165424, 16302874, 20041941, 20956790, 26311622		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	CTD_human_DG	25344690		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	GWASCAT_DG	25344690		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Fragile X Syndrome	Fragile X Syndrome	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	BEFREE	11888238, 12165424, 15028761, 16525050, 17881658, 18479394, 21893419, 24659627		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	ORPHANET_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	10486327, 24659627, 35886038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized epilepsy with febrile seizures-plus	Epilepsy With Febrile Seizures Plus	Orphanet			★★★★★ ★☆☆☆☆ 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
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	30071822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26647175		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	38255008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	31394068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	35417276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	24710820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	35260864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	11738931, 17715289, 20041941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23849776, 24718902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16806834, 17049761, 17881658, 19783390, 19786696, 21156207, 21204806, 21893419, 22029951, 26311622, 28880996, 30415926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	19783390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	23827426, 25459969, 26138355, 29625812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20384724, 20807223, 22029951, 23566103, 26196440, 26555645, 29867081, 30813884, 30928199		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	20384724, 23566103, 26196440, 30813884, 31437449, 32400968, 33176815, 33278787, 34247411, 34894057, 35637276, 37010102, 37578743	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Neoplasms	Kidney neoplasm	Pubtator	27802793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	35803560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	38255008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	24220630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	31204721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30217455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29352134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24650168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20807223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	39285222	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	28831199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Familial Basilar	Migraine	Pubtator	33460646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migrating partial seizures in infancy	Migrating Partial Seizures In Infancy	BEFREE	16168594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	24710820, 28709814, 29778428		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	24710820	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	15148385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16302874		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30928199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28837158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889, 29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28379373, 28714951, 28837158, 29691040, 30741786, 31808001		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obtundation status	Obtundation status	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15771624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	28892059		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	BEFREE	17049761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	19738391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	31127053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	19738391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	24650168, 28256214, 29929112, 30071822, 30928199, 31272037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	29466837, 37486637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi-like syndrome	Prader-Willi-Like Syndrome	BEFREE	31497877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	28709814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	33176815	Associate	★★★★★ ★☆☆☆☆ 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
Schizophrenia	Schizophrenia	BEFREE	24718902, 26555645, 30741786, 31808001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	24718902, 26555645, 34894057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Complex	Seizure	CTD_human_DG	25344690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Simple	Seizure	CTD_human_DG	25344690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	16822249, 17386050, 23550958, 23566103, 23758435, 25982755, 26291284, 28256214, 29314583, 29844171, 30071822, 30314295, 30813219, 30813884, 31618474 View all (10 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	12086636, 15028761, 20041941, 35022648, 39596607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SEIZURES, BENIGN FAMILIAL INFANTILE, 3	Seizure	UNIPROT_DG	11371648, 12243921, 15048894, 16417554, 17021166, 17386050, 18479388, 20371507, 22612257, 23360469, 23758435, 25982755, 26291284, 29844171, 30144217		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 3	Seizure	GENOMICS_ENGLAND_DG	15028761, 24579881		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 3	Seizure	BEFREE	15048894, 19783390, 22029951, 22399141, 23360469, 24710820		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 3	Seizure	CLINVAR_DG	15048894, 18479388, 19786696, 23360469, 23935176, 25772804, 26648591, 26993267, 27781031, 27824329, 27867041, 28379373, 28554332, 29186148, 29215089		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual disability	Mental retardation	BEFREE	24579881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	19786696, 23827426, 29844171, 29929112, 30813219, 36279597, 37583270, 38148154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	33278787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	17715289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	30071822	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	22958163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	23827426, 25459969, 26138355, 29625812, 29929112, 30415926		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
West Syndrome	West Syndrome	ORPHANET_DG	23935176		★★★★★ ★★★★★ 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	23550958, 23935176, 24814476, 27876397, 29625812, 30185235, 30415926		★★★★★ ★☆☆☆☆ Found in Text Mining only

SCN2A (sodium voltage-gated channel alpha subunit 2)