SCN8A (sodium voltage-gated channel alpha subunit 8)

Gene

• Entrez ID: 6334
• Gene name: Sodium voltage-gated channel alpha subunit 8
• Gene symbol: SCN8A
• Synonyms (NCBI Gene): BFIS5, CERIII, CIAT, DEE13, EIEE13, MED, MYOCL2, NaCh6, Nav1.6, PN4
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144424662	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs185667241	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200728478	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201045619	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201458257	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202151337	A>G	Pathogenic	Missense variant, coding sequence variant
rs202212399	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs367949317	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Missense variant, coding sequence variant
rs369145855	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs371712630	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs377197765	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514738	C>G	Pathogenic	Missense variant, coding sequence variant
rs587776703	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777721	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs587777722	C>A	Pathogenic	Coding sequence variant, missense variant
rs587777723	A>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs587780454	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs587780455	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs672601319	A>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs751637843	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs758253791	C>T	Pathogenic	Missense variant, coding sequence variant
rs761336234	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs761386688	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs769520392	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs775272996	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs794727128	A>G	Not-provided, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs794727361	G>A	Pathogenic	Missense variant, coding sequence variant
rs794727362	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs796053209	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs796053210	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs796053214	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs796053216	G>A,T	Pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs796053217	A>G	Pathogenic	Missense variant, coding sequence variant
rs796053218	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs796053220	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs796053223	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs796053224	C>T	Pathogenic	Missense variant, coding sequence variant
rs796053227	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs796053228	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs796053229	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs796053233	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs797045013	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863223345	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863225295	T>G	Pathogenic	Missense variant, coding sequence variant
rs869312690	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs869312966	G>T	Pathogenic	Coding sequence variant, missense variant
rs876657399	C>G	Pathogenic	Coding sequence variant, missense variant
rs878853250	T>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs878854973	A>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs879255652	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs879255693	T>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs879255694	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs879255695	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs879255696	T>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs879255697	T>C	Pathogenic	Coding sequence variant, missense variant
rs879255698	G>C	Pathogenic	Coding sequence variant, missense variant
rs879255699	G>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs879255700	T>C	Pathogenic	Coding sequence variant, missense variant
rs879255701	T>A	Pathogenic	Coding sequence variant, missense variant
rs879255702	G>A	Pathogenic	Coding sequence variant, missense variant
rs879255703	T>A	Pathogenic	Coding sequence variant, missense variant
rs879255704	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs879255705	C>G	Pathogenic	Coding sequence variant, missense variant
rs879255706	A>G	Pathogenic	Coding sequence variant, missense variant
rs879255707	T>A,G	Pathogenic	Coding sequence variant, missense variant, stop gained
rs879255708	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs879255709	G>A	Pathogenic	Coding sequence variant, missense variant
rs879255710	C>G	Pathogenic	Coding sequence variant, missense variant
rs879255711	A>T	Pathogenic	Coding sequence variant, missense variant
rs886041670	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs961205540	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1057518356	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518487	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1057518667	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519210	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057519540	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520149	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1057520361	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521662	G>C	Pathogenic	Missense variant, coding sequence variant
rs1057521767	A>C,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1057524820	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793263	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793722	A>G	Pathogenic	Splice donor variant
rs1064793923	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1064794715	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1064794727	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794782	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794873	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307940	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307999	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308013	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691327	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1131691414	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691459	T>G	Likely-pathogenic	Intron variant
rs1135401806	A>T	Pathogenic	Missense variant, coding sequence variant
rs1349215930	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs1490133991	T>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1555218630	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555219495	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555219864	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555225794	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555225835	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1555226079	T>C	Pathogenic	Missense variant, coding sequence variant
rs1555226081	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555226823	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1555228303	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555228665	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555228771	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555228931	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1555229496	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555230909	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555230924	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555230928	T>A,C,G	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1555231010	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555231012	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1565908565	->AAGAAAG	Pathogenic	Frameshift variant, coding sequence variant
rs1565915356	->T	Pathogenic	Stop gained, coding sequence variant
rs1565925940	GACAATGTTGGGGCAGGATA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565934070	C>G	Pathogenic	Missense variant, coding sequence variant
rs1592149711	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1592149771	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1592149876	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592162430	A>G	Pathogenic	Missense variant, coding sequence variant
rs1592174304	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592380687	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1592380699	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1592387849	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1592392873	G>C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT639503	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT639502	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT639501	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT639500	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT639499	hsa-miR-4262	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT639503	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT639502	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT639501	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT639500	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT639499	hsa-miR-4262	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT610889	hsa-miR-8485	HITS-CLIP	23824327
MIRT610888	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610887	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610886	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT610885	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT610884	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT610883	hsa-miR-8064	HITS-CLIP	23824327
MIRT610882	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT1330243	hsa-miR-129-5p	CLIP-seq
MIRT1330244	hsa-miR-200b	CLIP-seq
MIRT1330245	hsa-miR-200c	CLIP-seq
MIRT1330246	hsa-miR-3152-3p	CLIP-seq
MIRT1330247	hsa-miR-3161	CLIP-seq
MIRT1330248	hsa-miR-3163	CLIP-seq
MIRT1330249	hsa-miR-3190	CLIP-seq
MIRT1330250	hsa-miR-323-5p	CLIP-seq
MIRT1330251	hsa-miR-33a	CLIP-seq
MIRT1330252	hsa-miR-33b	CLIP-seq
MIRT1330253	hsa-miR-3646	CLIP-seq
MIRT1330254	hsa-miR-3662	CLIP-seq
MIRT1330255	hsa-miR-369-3p	CLIP-seq
MIRT1330256	hsa-miR-374a	CLIP-seq
MIRT1330257	hsa-miR-374b	CLIP-seq
MIRT1330258	hsa-miR-3940-5p	CLIP-seq
MIRT1330259	hsa-miR-4251	CLIP-seq
MIRT1330260	hsa-miR-4275	CLIP-seq
MIRT1330261	hsa-miR-429	CLIP-seq
MIRT1330262	hsa-miR-4303	CLIP-seq
MIRT1330263	hsa-miR-4329	CLIP-seq
MIRT1330264	hsa-miR-4491	CLIP-seq
MIRT1330265	hsa-miR-4507	CLIP-seq
MIRT1330266	hsa-miR-4657	CLIP-seq
MIRT1330267	hsa-miR-4668-3p	CLIP-seq
MIRT1330268	hsa-miR-4680-3p	CLIP-seq
MIRT1330269	hsa-miR-4694-5p	CLIP-seq
MIRT1330270	hsa-miR-4724-5p	CLIP-seq
MIRT1330271	hsa-miR-4742-3p	CLIP-seq
MIRT1330272	hsa-miR-4760-5p	CLIP-seq
MIRT1330273	hsa-miR-544	CLIP-seq
MIRT1330274	hsa-miR-568	CLIP-seq
MIRT1330275	hsa-miR-580	CLIP-seq
MIRT1330276	hsa-miR-629	CLIP-seq
MIRT1330277	hsa-miR-873	CLIP-seq
MIRT1330278	hsa-miR-876-3p	CLIP-seq
MIRT1330279	hsa-miR-148a	CLIP-seq
MIRT1330280	hsa-miR-148b	CLIP-seq
MIRT1330281	hsa-miR-152	CLIP-seq
MIRT1330282	hsa-miR-1825	CLIP-seq
MIRT1330283	hsa-miR-2355-3p	CLIP-seq
MIRT1330284	hsa-miR-30a	CLIP-seq
MIRT1330285	hsa-miR-30b	CLIP-seq
MIRT1330286	hsa-miR-30c	CLIP-seq
MIRT1330287	hsa-miR-30d	CLIP-seq
MIRT1330288	hsa-miR-30e	CLIP-seq
MIRT1330289	hsa-miR-3126-3p	CLIP-seq
MIRT1330290	hsa-miR-3130-5p	CLIP-seq
MIRT1330291	hsa-miR-3136-5p	CLIP-seq
MIRT1330249	hsa-miR-3190	CLIP-seq
MIRT1330251	hsa-miR-33a	CLIP-seq
MIRT1330252	hsa-miR-33b	CLIP-seq
MIRT1330292	hsa-miR-382	CLIP-seq
MIRT1330293	hsa-miR-3929	CLIP-seq
MIRT1330294	hsa-miR-4419b	CLIP-seq
MIRT1330295	hsa-miR-4421	CLIP-seq
MIRT1330296	hsa-miR-4439	CLIP-seq
MIRT1330297	hsa-miR-4478	CLIP-seq
MIRT1330298	hsa-miR-4482	CLIP-seq
MIRT1330264	hsa-miR-4491	CLIP-seq
MIRT1330299	hsa-miR-4513	CLIP-seq
MIRT1330300	hsa-miR-4646-3p	CLIP-seq
MIRT1330266	hsa-miR-4657	CLIP-seq
MIRT1330301	hsa-miR-676	CLIP-seq
MIRT1330277	hsa-miR-873	CLIP-seq
MIRT1330302	hsa-miR-943	CLIP-seq
MIRT2322123	hsa-miR-2278	CLIP-seq
MIRT2322124	hsa-miR-3160-5p	CLIP-seq
MIRT2322125	hsa-miR-4638-3p	CLIP-seq
MIRT1330273	hsa-miR-544	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IDA	29726066
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IC	9828131
GO:0001518	Component	Voltage-gated sodium channel complex	IDA	36696443, 36823201
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0002102	Component	Podosome	IEA
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	21078353, 25239001, 29726066, 36696443, 36823201
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	25725044
GO:0005248	Function	Voltage-gated sodium channel activity	NAS	9828131
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	22364545, 25659151, 26900580
GO:0005886	Component	Plasma membrane	IDA	29726066
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	NAS	9828131
GO:0007422	Process	Peripheral nervous system development	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9828131
GO:0030018	Component	Z disc	ISS
GO:0030054	Component	Cell junction	IDA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0031402	Function	Sodium ion binding	IDA	36823201
GO:0031410	Component	Cytoplasmic vesicle	IEA
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:0042995	Component	Cell projection	IEA
GO:0043194	Component	Axon initial segment	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA

Other IDs

• MIM: 600702
• HGNC: 10596
• e!Ensembl: ENSG00000196876

Protein

• UniProt ID: Q9UQD0
• Protein name: Sodium channel protein type 8 subunit alpha (Sodium channel protein type VIII subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.6)
• Protein function: Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradient (Pu
• PDB: 8FHD, 8GZ1, 8GZ2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	131 → 422	Ion transport protein	Family
  PF11933	Na_trans_cytopl	499 → 702	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
  PF00520	Ion_trans	752 → 987	Ion transport protein	Family
  PF06512	Na_trans_assoc	991 → 1193	Sodium ion transport-associated	Family
  PF00520	Ion_trans	1197 → 1474	Ion transport protein	Family
  PF00520	Ion_trans	1521 → 1777	Ion transport protein	Family
  PF00612	IQ	1896 → 1916	IQ calmodulin-binding motif	Motif

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the hippocampus with increased expression in epileptic tissue compared to normal adjacent tissue (at protein level) (PubMed:28842554). {ECO:0000269|PubMed:28842554}.; TISSUE SPECIFICITY: [Isoform 5]: Expressed in non-neuro
• Sequence:

  MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLE
  AGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNL
  IRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIAR
  GFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTI
  VGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGF
  DWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAF
  LALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQA
  TLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEI
  SKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKF
  SIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDS
  LFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIG
  GRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCP
  PCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQ
  FEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGL
  SVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKS
  YKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMV
  MVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQ
  AHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIID
  EDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIK
  PEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWF
  ETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFF
  TNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNAL
  VGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLM
  EGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYM
  YIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKP
  QKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLV
  FVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIR
  LARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEA
  GIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPS
  VGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDAT
  QFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSG
  ELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKT
  TSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC
  

• Sequence length: 1980

Pathways

Reactome:

Phase 0 - rapid depolarisation

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
Arthrogryposis multiplex congenita	Likely pathogenic	rs1592387849	RCV000855503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Likely pathogenic	rs1085307999	RCV000851494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive inheritance	Likely pathogenic	rs1555218644, rs2138904306, rs1555225498	RCV001785303 RCV001785304 RCV001785305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Likely pathogenic	rs1555225835	RCV000851503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cognitive impairment with or without cerebellar ataxia	Likely pathogenic; Pathogenic	rs1323578421, rs1064793923, rs2138909658, rs2138863024, rs2138750383, rs2138748239, rs587780586, rs1555225782, rs2138942542, rs2138862836, rs2138942373, rs2138739035, rs2540260520, rs794727361, rs2540155977, rs1555228912, rs879255694, rs796053229, rs2138943320, rs2540302039, rs2540119287, rs2540172670, rs2540265567, rs2540260600, rs2540302255, rs2540119865, rs2540159252, rs1555226860, rs1064794727, rs1057524820, rs1565886685, rs1592380687, rs1592380699, rs1592149711, rs1555225505	RCV001333926 RCV001706842 RCV001706935 RCV001814683 RCV001843726 RCV002246576 RCV001249685 RCV002052203 RCV002249163 RCV002250338 RCV002250339 RCV003325437 RCV002465390 RCV001095653 RCV002512466 RCV004566611 RCV004767197 RCV005008215 RCV003223477 RCV003315144 RCV003315164 RCV003323268 RCV003333511 RCV003335842 RCV003448535 RCV006257383 RCV004566583 RCV005255040 RCV001330496 RCV000762898 RCV002248807 RCV004594094 RCV000850509 RCV000850511 RCV000995865 RCV001291729	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA	Pathogenic	rs1057521662, rs1555226823	RCV000766191 RCV000766192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1555218644, rs2138904306, rs1555225498, rs587780586, rs2138748186, rs587777721, rs876657399, rs863223345, rs796053210, rs796053216, rs796053220, rs796053228, rs796053229, rs797045013, rs869312966, rs879255652, rs879255700, rs879255704, rs1057518356, rs1057521662, rs202151337, rs1555217342, rs1555230924, rs1565934070, rs1555226823, rs1085307999, rs1592162430, rs397514738	RCV003992552 RCV003992553 RCV003992554 RCV003992189 RCV006271833 RCV003992195 RCV003992211 RCV003992212 RCV006271600 RCV003992219 RCV003992220 RCV003992221 RCV003992222 RCV003992223 RCV003992235 RCV003992245 RCV003992246 RCV003992247 RCV003992248 RCV006271972 RCV006271631 RCV003992294 RCV003992161 RCV006271636 RCV003992347 RCV003992384 RCV006271653 RCV006271674 RCV004577536 RCV003992171	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy	Pathogenic; Likely pathogenic	rs1941714399, rs2138735536, rs2138878910, rs2138919307, rs1938721157, rs2138944020, rs1555228303, rs2138909658, rs1555225532, rs2138750473, rs2138904112, rs2138892902, rs2138748239, rs2138904397, rs1592380834, rs2138919119, rs794727361, rs587780586, rs1430513260, rs2138838820, rs2138919187, rs2138868851, rs2138919071, rs2138944124, rs762777153, rs2138742488, rs796053216, rs2138919240, rs1555228669, rs2138919129, rs2138909650, rs2138735794, rs2138748186, rs2138711868, rs587777721, rs863223345, rs794727128, rs796053233, rs796053210, rs796053214, rs796053224, rs796053228, rs796053229, rs797045013, rs2540265574, rs2540333855, rs1938733899, rs2540239327, rs878853250, rs878854974, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255710, rs2540176622, rs2540186185, rs1555219147, rs2540119865, rs1555225831, rs2540335828, rs1942828530, rs2540333858, rs2540184329, rs2540306816, rs879255709, rs796053218, rs2540308991, rs1938702028, rs2540306984, rs587777722, rs202151337, rs1060501012, rs1060504137, rs1064793923, rs1064794727, rs1131691830, rs1555218657, rs1555217342, rs1352024223, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1555226823, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1085307999, rs1941650264, rs1941714576, rs1938725748, rs1938214529, rs1941650760, rs1938178701, rs1938712937, rs747526439, rs774522197, rs1938703803	RCV001347627 RCV001366369 RCV001367507 RCV001361939 RCV001365057 RCV001378321 RCV001380063 RCV001868400 RCV005095085 RCV002544191 RCV001885125 RCV001988883 RCV001924977 RCV001958005 RCV001922799 RCV002041381 RCV001975799 RCV000803456 RCV001889841 RCV001908604 RCV001997037 RCV002029043 RCV001876329 RCV001999506 RCV002000739 RCV001931240 RCV002037567 RCV002041510 RCV001951025 RCV001945409 RCV002020842 RCV002048274 RCV002029535 RCV001957044 RCV000636307 RCV001380064 RCV001044209 RCV001219444 RCV001220316 RCV002517014 RCV000700845 RCV000462091 RCV005089956 RCV000229600 RCV002517898 RCV001852528 RCV002807295 RCV002810928 RCV002828904 RCV003027071 RCV003057861 RCV001232816 RCV000232244 RCV002518547 RCV001854934 RCV001054624 RCV002519872 RCV001854935 RCV001059522 RCV000704631 RCV003589734 RCV003589885 RCV003589236 RCV003590416 RCV003753364 RCV003754106 RCV003754147 RCV003754291 RCV003754390 RCV003754435 RCV003754552 RCV003754549 RCV003754440 RCV003754740 RCV003754756 RCV003752686 RCV003753672 RCV001230237 RCV001467078 RCV000467078 RCV001856835 RCV001215479 RCV003588637 RCV001865573 RCV000528368 RCV000546734 RCV001860018 RCV000636321 RCV000695035 RCV000690219 RCV000685441 RCV000685228 RCV001240826 RCV000823620 RCV000799054 RCV000814384 RCV000805968 RCV000796212 RCV000796655 RCV001858503 RCV001421222 RCV001051151 RCV001047065 RCV001037482 RCV001041278 RCV002555932 RCV001215170 RCV001202692 RCV001203843 RCV001214167 RCV001229803 RCV001238629 RCV001879868 RCV001301920 RCV001304823	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 1	Likely pathogenic	rs2540307045	RCV002284140	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 13	Likely pathogenic; Pathogenic	rs1555228771, rs1938713472, rs1555228303, rs2138904272, rs2138908345, rs1942832440, rs1064793923, rs2138862858, rs2138904112, rs796053224, rs2138863024, rs2138735599, rs2138863154, rs587780454, rs1592380834, rs794727361, rs587780586, rs2138711868, rs587777721, rs587777722, rs587777723, rs2138739035, rs672601319, rs2540265562, rs2540172793, rs2540333669, rs2540172993, rs876657399, rs863223345, rs2540158696, rs796053210, rs796053216, rs796053217, rs1555228912, rs796053228, rs797045013, rs863225295, rs2540239327, rs869312690, rs879255652, rs879255694, rs879255695, rs879255697, rs879255700, rs879255703, rs879255704, rs879255705, rs879255707, rs879255709, rs879255710, rs796053229, rs2138943320, rs2540172670, rs2540184376, rs2540265567, rs2138857842, rs2540260284, rs2540159252, rs2540334634, rs879255696, rs1057518667, rs1057519540, rs202151337, rs1064794727, rs1135401806, rs1555225794, rs1057524820, rs1555231012, rs1555218630, rs1592149793, rs1592162415, rs1592380687, rs1592380699, rs1592387849, rs1592162430, rs397514738, rs879255699, rs1592149771, rs1555230928, rs2540335641, rs1555228770, rs1938214529, rs879255702, rs1938214882, rs1942828530, rs1938714598, rs1942828881, rs1942779292, rs1938093232	RCV001330492 RCV001333731 RCV003330327 RCV001788512 RCV001527646 RCV001706816 RCV001706843 RCV001728035 RCV001775228 RCV001775251 RCV001814683 RCV001822986 RCV001839067 RCV000118285 RCV003987932 RCV003136389 RCV000122729 RCV005622148 RCV000144154 RCV000144155 RCV000144156 RCV002273059 RCV000149436 RCV002466361 RCV002466363 RCV002466364 RCV002468782 RCV000172909 RCV000172910 RCV001253356 RCV002574760 RCV003223395 RCV000500598 RCV000239737 RCV004566612 RCV000239726 RCV000190513 RCV000201939 RCV003322638 RCV000209897 RCV002226427 RCV000239765 RCV000239741 RCV000239739 RCV000239728 RCV000239747 RCV000239751 RCV000239762 RCV000239729 RCV000239758 RCV000239746 RCV000239745 RCV005254751 RCV003323268 RCV003325445 RCV003333512 RCV003988170 RCV003988581 RCV004566584 RCV004595058 RCV000414881 RCV000415327 RCV003335314 RCV000023031 RCV000762898 RCV000496197 RCV000502482 RCV000585876 RCV000988852 RCV003325434 RCV005863291 RCV004799237 RCV000850509 RCV000850511 RCV001775152 RCV000855669 RCV000054506 RCV000988845 RCV000988846 RCV000988851 RCV001004715 RCV001004666 RCV001089542 RCV001089738 RCV001089740 RCV001195919 RCV001249745 RCV001252615 RCV001253419 RCV001262688 RCV001270732	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
developmental delay with seizures	Pathogenic	rs587777721	RCV000678845	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs796053216, rs879255652	RCV000627041 RCV001293365	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs796053216, rs796053228, rs879255709, rs2540309039, rs1057519540, rs1592174304	RCV000416962 RCV000416947 RCV000417005 RCV003484988 RCV000417010 RCV001003603	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1592387849	RCV000855503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs1555218644, rs2138904306, rs1555225498, rs876657399	RCV001785303 RCV001785304 RCV001785305 RCV001003602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile spasms	Likely pathogenic	rs1592174304	RCV001003603	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2540154868, rs1555225835, rs1057520149, rs1085307999	RCV005626889 RCV000851503 RCV000851498 RCV000851494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonus, familial, 2	Pathogenic; Likely pathogenic	rs1592380834, rs1555228912, rs796053229, rs2540265567, rs2540159252, rs1565934070	RCV003987932 RCV004566614 RCV005008215 RCV003333514 RCV004566586 RCV000761580	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2138942837, rs1555218610, rs2540260370, rs2540172722	RCV001374961 RCV002277641 RCV003389157 RCV003389209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN8A-related disorder	Likely pathogenic; Pathogenic	rs2138862977, rs2138711868, rs794727128, rs796053217, rs879255704, rs2540302084, rs200307006, rs1555219495, rs1352024223, rs1555231010	RCV006270514 RCV003336489 RCV000509479 RCV004734838 RCV003335289 RCV003314101 RCV004529289 RCV004535562 RCV004545795 RCV000677422	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SCN8A-related epileptic disorder	Likely pathogenic	rs1555218630	RCV000677400	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1555218644, rs2138904306, rs1555225498, rs876657399, rs879255652, rs1057520149, rs1085307999, rs1592174304, rs879255709	RCV001785303 RCV001785304 RCV001785305 RCV001003602 RCV005624346 RCV000851498 RCV000851494 RCV001003603 RCV002275183	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures, benign familial infantile, 5	Likely pathogenic; Pathogenic	rs2138863024, rs2138863154, rs1592380834, rs587780586, rs2138944124, rs2138711868, rs672601319, rs1555228912, rs796053220, rs796053228, rs797045013, rs879255652, rs796053229, rs2540333608, rs2540265567, rs1938702028, rs2540154868, rs2540159252, rs1064794727, rs1131691830, rs1592162415, rs1592380687, rs1592380699	RCV001814683 RCV001839067 RCV003987932 RCV001249685 RCV005410946 RCV002281585 RCV005867933 RCV004566613 RCV002281571 RCV002281572 RCV000850597 RCV000239671 RCV005008215 RCV003227554 RCV003333513 RCV006449393 RCV004551164 RCV004566585 RCV000762898 RCV002281575 RCV004799237 RCV000850509 RCV000850511	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Undetermined early-onset epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2540308991	RCV004799688	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West syndrome	Likely pathogenic; Pathogenic	rs587780586	RCV003488395	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal cerebral morphology	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; -; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL INFANTILE EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL INFANTILE SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral tonic-clonic seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 64	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL REGRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	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	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal clonic seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL ONSET CLONIC EPILEPTIC SEIZURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukoencephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moderate intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN8A-related complex neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	-; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	-; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	10973135, 11378664, 12028055, 1520607, 22924376		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	10973135, 11378664, 12028055, 1520607, 22924376		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASDB_DG	17362836		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	16734683		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29805540		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	16236810, 29432985	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	31083464		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30643080		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	16236810	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	16236810	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27875746, 33460646, 34615535, 36029553	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27875746		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30615093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	23708187, 29942082		★☆☆☆☆ Found in Text Mining only
Benign familial infantile epilepsy	Epilepsy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	18812204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	18812204, 20353942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	18546327		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	18812204		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22365152, 24888894, 25239001, 25568300, 25818041, 27375106, 28518218, 28923014, 29121005, 29432985, 30171078, 31672125, 31715021, 33901312, 35188110, 35802036, 35853415, 37577282	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	18812204		★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31912090	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31590967		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	38233770	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Cerebellar atrophy	BEFREE	16236810		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	16236810	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar medulloblastoma	Cerebellar medulloblastoma	BEFREE	9420431		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	25666757		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30158710		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30158710		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Choreoathetosis	Choreoathetosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chronic Kidney Diseases	Kidney Disease	BEFREE	28038565		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16236810		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	16236810, 29726066, 31625145, 38233770	Associate	★☆☆☆☆ Found in Text Mining only
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA	Cognitive impairment with or without cerebellar ataxia	GENOMICS_ENGLAND_DG	22365152, 26677014		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA	Cognitive impairment with or without cerebellar ataxia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA	Cognitive impairment with or without cerebellar ataxia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25804238, 31672162	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	23869231	Associate	★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	30389587		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20077500		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30664617		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29349514		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24888894, 25568300, 26993267, 27875746, 27900360, 28923014, 29432985, 31056551, 31402610, 33460646, 34979445, 35803560, 37498161, 38233770	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31590967		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	18553123		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	25785782	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10745221, 16236810, 20196795, 22365152, 23020937, 23708187, 23934111, 24352161, 24874546, 24888894, 25239001, 25725044, 25785782, 25799905, 25914188, 26029160, 26220391, 26252990, 26677014, 26900580, 26993267, 27270488, 28702509, 7751906, 9295353, 9828131		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	8752657		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	14769375, 9562526, 9949206		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	24352161, 25239001, 27836728, 28518218, 29677576, 30968951		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	29432985, 32968789	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	17881658, 20351042, 21156207, 24288358, 24352161, 24874546, 24888894, 25568300, 25725044, 25785782, 26220391, 26252990, 27210545, 27659738, 27875746, 28923014, 29317669, 29432985, 29466837, 29574705, 29677576, 30078772, 30615093, 30870728, 30968951, 31026061, 31054517, 31174070, 31335965, 31402610, 31605437, 31715021		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	22365152, 24888894, 25239001, 25568300, 25725044, 25785782, 26252990, 27875746, 27900360, 28923014, 29056246, 29432985, 29466837, 30185235, 30977854, 31056551, 31402610, 31715021, 32845893, 32968789, 33460646, 34431999, 34979445, 35325842, 35805192, 35853415, 37498161, 40180227, 40565516	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CTD_human_DG	23708187, 29942082		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	26677014		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CLINVAR_DG			★★★★☆ 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	28923014, 34979445, 35188110, 37577282, 38160512	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	34431999	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	23708187, 29942082		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	28842554, 29317669		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	22365152, 24288358, 24352161, 24874546, 24888894, 25227913, 25239001, 26220391, 27210545, 27659738, 28676440, 28923014, 29121005, 29128679, 29782051, 30078772, 30171078, 30601941, 31174070, 31278928, 31625145, 31672125, 31675620		★★★★★ 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	24888894, 30171078, 31625145, 34399820, 34979445, 35803560, 36029553, 37498161	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	27270488, 30870728		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21	Epileptic encephalopathy	CLINVAR_DG	24888894, 25568300, 25951352, 26029160, 26647175, 26900580, 27779742, 28387369, 29121005		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	30314295	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia Type 2	Episodic ataxia	Pubtator	30314295	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	18718804		★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	ORPHANET_DG	26677014		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fecal Incontinence	Bowel incontinence	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32299835	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37052249	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	9788574		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27210545, 29432985		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	1642095		★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	30389587		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	17347910, 8828968, 8882879		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	8828968, 8882879		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	29432985, 37498161, 37577282	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30194545		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16236810, 27210545		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile convulsions and choreoathetosis	Convulsions And Choreoathetosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	Infantile convulsions and choreoathetosis	ORPHANET_DG	26677014		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	17881658, 27270488, 30870728		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16236810, 25725044, 25785782, 26252990, 29726066, 30615093, 30968951		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	16236810		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	16236810, 24888894, 25568300, 25725044, 25785782, 26252990, 27875746, 28923014, 29726066, 31402610, 35188110	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	35803560	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31672162	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30158710		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022, 9788574		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	16236810		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30664617		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	20632842		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16236810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	17347910		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_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	24888894		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30389587, 30968951, 31625145		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	BEFREE	30389587		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10745221, 16236810, 20196795, 22365152, 23020937, 23708187, 23934111, 24352161, 24874546, 24888894, 25239001, 25725044, 25785782, 25799905, 25914188, 26029160, 26220391, 26252990, 26677014, 26900580, 26993267, 27270488, 28702509, 7751906, 9295353, 9828131		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	12374766, 16236810, 17881658, 29432985, 29726066		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	16236810, 25568300, 29432985, 29726066, 31625145, 35188110, 37498161	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	11479597, 15183431, 15694129, 16440132, 16514635, 17200202, 18193163		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	15148385	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	17805013		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	17881658		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28938620		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11496924, 21868677, 22365152, 29726066, 9828131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	15170223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	7670495		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25568300, 27875746, 28923014		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	27875746		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	27875746	Associate	★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28676440		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24101134		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31072097		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37198621	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	16702217		★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	27875746		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Precocious female puberty	Precocious puberty	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	16236810		★☆☆☆☆ Found in Text Mining only
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	15183431, 18193163, 18546327, 9021009		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	28923014	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	25914188	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20212452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN8A-related epilepsy with encephalopathy	Epilepsy With Encephalopathy	CLINVAR_DG	12374766, 17881658, 22365152, 23020937, 23708187, 23934111, 24194747, 24352161, 24874546, 24888894, 25046240, 25239001, 25533962, 25568300, 25725044, 25785782, 25799905, 25818041, 25914188, 25951352, 26235738, 26235739, 26297079		★☆☆☆☆ Found in Text Mining only
SCN8A-related epilepsy with encephalopathy	Epilepsy With Encephalopathy	UNIPROT_DG	22365152, 23708187, 24352161, 24874546, 24888894, 25239001, 25568300, 25725044, 25785782, 25818041, 26900580, 26993267, 27210545, 27864847, 28923014		★☆☆☆☆ Found in Text Mining only
SCN8A-related epilepsy with encephalopathy	Epilepsy With Encephalopathy	GENOMICS_ENGLAND_DG	22365152, 26677014		★☆☆☆☆ Found in Text Mining only
SCN8A-related epilepsy with encephalopathy	Epilepsy With Encephalopathy	BEFREE	25239001, 27270488		★☆☆☆☆ Found in Text Mining only
SCN8A-related epilepsy with encephalopathy	Epilepsy With Encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24888894, 25568300, 25725044, 26252990, 27375106, 27875746, 27900360, 28923014, 30171078, 30314295, 32613771, 35188110, 35802036, 37577282	Associate	★☆☆☆☆ Found in Text Mining only
SEIZURES, BENIGN FAMILIAL INFANTILE, 5	Seizure	CLINVAR_DG	24874546		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 5	Seizure	GENOMICS_ENGLAND_DG	26677014		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 5	Seizure	UNIPROT_DG	26677014, 27210545		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 5	Seizure	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual disability	Mental retardation	BEFREE	31174070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	19306853		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	BEFREE	29317669		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	18718804	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tremor, Rubral	Rubral Tremor	CTD_human_DG	19261867		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	29432985	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28938620		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30158710	Stimulate	★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	24352161, 27210545, 31672125, 31715021		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only