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	6323
Gene name	Sodium voltage-gated channel alpha subunit 1
Gene symbol	SCN1A
Synonyms (NCBI Gene)	DEE6DEE6ADEE6BDRVTEIEE6FEB3FEB3AFHM3GEFSP2HBSCINAC1Nav1.1SCN1SMEI
Chromosome	2
Chromosome location	2q24.3
Summary	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium cha

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3812718	C>T	Drug-response, risk-factor	Intron variant
rs35595680	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs114137271	T>C,G	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs116478064	G>A	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs121917918	C>A,T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917923	G>A,T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917927	C>G,T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917928	C>A	Likely-pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917929	G>A,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917935	C>A,T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917937	A>C	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917938	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917953	T>A	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917957	C>T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917959	C>A,G,T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, synonymous variant
rs121917964	T>C	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917965	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917969	A>G	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917971	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917972	C>T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917982	C>G,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917983	G>A,C	Likely-pathogenic, not-provided, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917984	G>A,C	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917985	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917989	A>G,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917990	T>A,C	Not-provided, uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918623	G>A,T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918624	G>A	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs121918631	A>G,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918733	A>G	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918734	A>G	Uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918735	G>A,T	Likely-benign, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, synonymous variant
rs121918736	G>A,C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918737	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918745	G>A	Likely-pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918753	C>G,T	Likely-pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918754	C>A,T	Not-provided, pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121918768	C>A	Uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918770	C>A,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918773	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918774	C>G,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918775	G>A,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918781	A>G	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918784	G>A	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918785	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918788	G>A	Not-provided, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918795	G>C,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918817	C>T	Uncertain-significance, benign, not-provided, likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs141950573	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs145035963	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs145662732	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant, non coding transcript variant
rs146515561	G>A,C,T	Pathogenic	5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs148442069	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs200034964	T>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs200176684	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs201985242	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs373417440	T>C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs397514459	G>A,C,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs398123579	C>G	Pathogenic	Splice acceptor variant
rs398123580	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs398123584	T>A,C	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs398123585	G>A,T	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant, synonymous variant
rs398123588	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123600	T>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs544692790	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs549232924	A>-,AA,AAA	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs727504140	T>C	Pathogenic	Splice acceptor variant
rs727504142	C>G	Pathogenic, uncertain-significance	Intron variant
rs727504143	T>A,G	Likely-pathogenic, uncertain-significance	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs745664511	A>G	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs748267258	A>G,T	Likely-pathogenic	Synonymous variant, missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs750209664	C>A,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs751533302	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs752918105	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, synonymous variant
rs754032480	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs758871507	A>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs759923734	G>C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs760361423	C>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs762038032	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs763400390	C>A,T	Pathogenic	Splice acceptor variant
rs764444350	T>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs767045134	T>A,C	Pathogenic, uncertain-significance	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs773407463	A>C,G	Pathogenic	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs773695263	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs775214722	A>G,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs779184118	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs781507889	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs781746113	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs786200989	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786205214	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726695	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726697	G>A,T	Pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs794726704	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726708	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726711	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726712	A>C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs794726713	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726714	AC>-	Pathogenic	Splice donor variant
rs794726715	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs794726716	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726717	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726718	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726719	C>G,T	Pathogenic, likely-benign	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs794726721	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs794726724	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726725	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726732	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726736	G>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs794726738	CG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726742	C>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726743	C>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726747	T>A,G	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726749	C>A,T	Pathogenic	Splice donor variant
rs794726750	->GGTC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726751	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726753	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726755	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726761	A>G,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs794726762	C>G,T	Pathogenic	Intron variant
rs794726764	G>C	Pathogenic	Splice acceptor variant
rs794726765	C>A,T	Pathogenic	Splice donor variant
rs794726766	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726767	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726768	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726771	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726772	C>A	Pathogenic	Splice donor variant
rs794726773	T>C	Pathogenic	Intron variant
rs794726775	T>A	Pathogenic	Intron variant
rs794726776	GC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726777	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726778	G>A,C	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726782	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726786	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726787	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726788	CCATTATAAT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726790	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726792	CCAACTGAAGGTATCAAAGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726793	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726794	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726795	A>T	Pathogenic	Intron variant
rs794726796	TTCC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726797	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726798	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726799	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726803	T>C	Pathogenic	Splice donor variant
rs794726805	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726806	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726807	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726808	TACAGTCCCA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726810	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726811	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726812	->TATAC	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs794726815	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794726818	GT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726820	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726823	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726824	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs794726826	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726827	C>A,G,T	Pathogenic	Splice donor variant
rs794726828	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726829	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726831	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726833	T>G	Pathogenic	Intron variant
rs794726834	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726837	A>C	Pathogenic	Intron variant
rs794726838	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, missense variant
rs794726840	C>G	Pathogenic	Splice donor variant
rs794726842	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726843	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726844	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726846	->CA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726847	T>A,G	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726848	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726849	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794727786	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796052953	C>T	Pathogenic	Splice acceptor variant
rs796052957	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052959	C>T	Pathogenic	Splice acceptor variant
rs796052960	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052961	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052962	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052963	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052964	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052965	C>T	Likely-pathogenic	Intron variant
rs796052969	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052971	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052972	C>A,G,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs796052973	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052974	A>C,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052976	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs796052977	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs796052981	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052982	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052983	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052984	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052985	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs796052986	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs796052988	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796053016	G>A,C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs796053047	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053050	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053051	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053052	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053053	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053054	->A	Pathogenic, uncertain-significance	Splice donor variant
rs796053055	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053056	->CTACT	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs796053057	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053058	CTTTC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053059	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053060	->TCGC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053062	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053064	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053065	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs796053066	->TAA	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, 5 prime UTR variant
rs796053075	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053076	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053089	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053090	C>A,G	Likely-pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs796053091	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053092	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053093	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053094	A>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053095	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053105	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs796053106	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs797044981	GCCAAGACG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs797044985	A>C	Pathogenic	Splice donor variant
rs797045941	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs863225030	C>A,T	Pathogenic	Splice donor variant
rs863225031	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs863225038	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs878854262	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886039430	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886039456	G>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886039464	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886041292	C>G,T	Pathogenic	Splice donor variant, 5 prime UTR variant
rs886041442	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041501	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041604	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886041644	CG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041716	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041733	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041926	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041937	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886041939	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041961	CA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041969	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886041980	C>-	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs886042004	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042528	C>T	Likely-pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886043534	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant, non coding transcript variant
rs886043864	C>G	Pathogenic	Splice donor variant
rs970867558	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057517849	C>A	Pathogenic	Splice donor variant
rs1057517862	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1057517959	C>A,T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs1057518094	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057518110	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1057518112	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs1057518129	C>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057518243	C>A,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057518325	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519529	C>G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519530	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519531	T>C	Pathogenic	Splice acceptor variant
rs1057520486	C>T	Pathogenic	Intron variant
rs1057521080	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057523858	A>T	Likely-pathogenic, pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057524737	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1057524752	T>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1060502185	G>C,T	Likely-pathogenic	Intron variant
rs1060502187	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064793315	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1064793341	->AC	Pathogenic	Splice donor variant
rs1064793678	GTTCTCAATGCCGA>TGTG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064793803	->A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064794147	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794252	CA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794503	->AGGGGAAAATACA	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794508	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794634	C>G	Likely-pathogenic	Intron variant
rs1064794913	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1064795078	->AAATG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064795227	->A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064795620	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064795735	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1064795736	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796087	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064796213	->CA	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064796384	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1064796824	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064797019	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064797266	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1085307520	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1085307892	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691465	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691545	A>G	Pathogenic	Splice donor variant
rs1266877537	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1553541066	AGTAAGGCACATGG>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553541473	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553542199	->GATA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553543215	AA>-	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553544470	CTAT>-	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553544559	A>T	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553544579	AATCCACAG>T	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553544821	C>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553545522	TGATG>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553545567	T>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553545660	TTCTT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553545742	ACTTA>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553546668	T>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553546763	C>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553546789	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553546836	C>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553546981	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553547380	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1553547448	A>T	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553548063	C>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553548096	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1553548194	AAT>-	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553549471	C>A,G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1553549483	GTCA>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553549660	G>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549717	C>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553549834	A>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549845	A>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549902	A>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549997	GGCCT>TTGTGG	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, splice acceptor variant
rs1553550552	C>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553550618	T>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553550625	GACGT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553551304	CTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGA>-	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1553551314	GCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAATTTTTATAAGTGATTCAAAAGTATATATTCCTGTGAAGGTGTAT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553551385	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553551425	->A	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553551493	A>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553552270	TCTACATTCTTTGTCCAATCAGGAGGGTTACTCATTGTCATAAACACACAGTTTGTCAAAATAGTGCACATAATTAGCATGCTGAATAAT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553552319	->C	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553552390	A>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553553462	G>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553553485	G>C	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553553614	G>C	Likely-pathogenic	Intron variant
rs1553560676	CTCACT>GGCA	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1553560677	C>G	Likely-pathogenic	Splice donor variant
rs1553560740	->ATC	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe insertion
rs1553560760	AGGTTCTTTCCA>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553560831	T>-,TT	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553561016	C>T	Pathogenic	5 prime UTR variant, initiator codon variant, non coding transcript variant, missense variant
rs1553561023	A>G	Pathogenic, likely-pathogenic	5 prime UTR variant, initiator codon variant, non coding transcript variant, missense variant
rs1559199628	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559200672	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559200901	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559210063	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559216338	->TC	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559217391	->G	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559220874	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559221910	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs1559225495	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559238432	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1559245847	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1559249734	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1574182550	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574183148	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1574192005	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574192998	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574201555	A>G	Likely-pathogenic	Splice donor variant, 5 prime UTR variant
rs1574201591	TTCCTACTGTAAGCACATT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574208760	GCTA>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574209023	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs1574214734	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1574216450	GTCTCTCTCCGTG>ACCTGAGTGCACAAACAAGGAATC	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574217232	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574223964	->T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574224274	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574225593	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574240716	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574263047	C>T	Likely-pathogenic	Splice donor variant
rs1574263819	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574264920	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574265144	->TTGCC	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574265485	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574266816	C>-	Pathogenic	Splice acceptor variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1574271602	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574271644	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574271827	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574272192	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574281711	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs1574282312	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574290850	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574291210	T>G	Likely-pathogenic	Intron variant
rs1574302195	AAGATGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574312497	C>T	Likely-pathogenic	Intron variant
rs1574370981	CACT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant, splice donor variant
rs1574371141	TCTT>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, 5 prime UTR variant
rs1574371902	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant

163

Show/Hide all (163)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038738	hsa-miR-93-3p	CLASH	23622248
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT575479	hsa-miR-4783-5p	HITS-CLIP	27418678
MIRT575479	hsa-miR-4783-5p	HITS-CLIP	27418678
MIRT575476	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575476	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575477	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575477	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575478	hsa-miR-933	HITS-CLIP	27418678
MIRT575478	hsa-miR-933	HITS-CLIP	27418678
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT1329734	hsa-miR-369-3p	CLIP-seq
MIRT1329735	hsa-miR-374a	CLIP-seq
MIRT1329736	hsa-miR-374b	CLIP-seq
MIRT1329737	hsa-miR-3180-5p	CLIP-seq
MIRT1329738	hsa-miR-338-3p	CLIP-seq
MIRT1329739	hsa-miR-4530	CLIP-seq
MIRT1329740	hsa-miR-106a	CLIP-seq
MIRT1329741	hsa-miR-106b	CLIP-seq
MIRT1329742	hsa-miR-1286	CLIP-seq
MIRT1329743	hsa-miR-17	CLIP-seq
MIRT1329744	hsa-miR-20a	CLIP-seq
MIRT1329745	hsa-miR-20b	CLIP-seq
MIRT1329746	hsa-miR-3148	CLIP-seq
MIRT1329747	hsa-miR-4722-5p	CLIP-seq
MIRT1329748	hsa-miR-519a	CLIP-seq
MIRT1329749	hsa-miR-519b-3p	CLIP-seq
MIRT1329750	hsa-miR-519c-3p	CLIP-seq
MIRT1329751	hsa-miR-519d	CLIP-seq
MIRT1329752	hsa-miR-520g	CLIP-seq
MIRT1329753	hsa-miR-520h	CLIP-seq
MIRT1329754	hsa-miR-93	CLIP-seq
MIRT2097750	hsa-miR-1179	CLIP-seq
MIRT1329737	hsa-miR-3180-5p	CLIP-seq
MIRT1329738	hsa-miR-338-3p	CLIP-seq
MIRT1329739	hsa-miR-4530	CLIP-seq
MIRT2322028	hsa-miR-132	CLIP-seq
MIRT2322029	hsa-miR-212	CLIP-seq
MIRT2322030	hsa-miR-3120-3p	CLIP-seq
MIRT2322031	hsa-miR-3192	CLIP-seq
MIRT2322032	hsa-miR-3689a-3p	CLIP-seq
MIRT2322033	hsa-miR-3689c	CLIP-seq
MIRT2322034	hsa-miR-3941	CLIP-seq
MIRT2322035	hsa-miR-4519	CLIP-seq
MIRT2322036	hsa-miR-466	CLIP-seq
MIRT2322037	hsa-miR-4672	CLIP-seq
MIRT2322038	hsa-miR-4728-5p	CLIP-seq
MIRT2322039	hsa-miR-4797-5p	CLIP-seq
MIRT2322040	hsa-miR-548ac	CLIP-seq
MIRT2322041	hsa-miR-548ae	CLIP-seq
MIRT2322042	hsa-miR-548aj	CLIP-seq
MIRT2322043	hsa-miR-548am	CLIP-seq
MIRT2322044	hsa-miR-548d-3p	CLIP-seq
MIRT2322045	hsa-miR-548x	CLIP-seq
MIRT2322046	hsa-miR-548z	CLIP-seq
MIRT2322047	hsa-miR-599	CLIP-seq
MIRT2097750	hsa-miR-1179	CLIP-seq
MIRT2394085	hsa-miR-409-3p	CLIP-seq
MIRT2394086	hsa-miR-4781-3p	CLIP-seq

Show/Hide all (53)

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:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	14672992
GO:0005248	Function	Voltage-gated sodium channel activity	ISS
GO:0005248	Function	Voltage-gated sodium channel activity	NAS	10742094
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA	14672992
GO:0005886	Component	Plasma membrane	IDA
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	IEA
GO:0006814	Process	Sodium ion transport	NAS	10742094
GO:0007628	Process	Adult walking behavior	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0021675	Process	Nerve development	IEA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030424	Component	Axon	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034706	Component	Sodium channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	27207958
GO:0086010	Process	Membrane depolarization during action potential	IEA
GO:0086010	Process	Membrane depolarization during action potential	IMP	14672992
GO:0086010	Process	Membrane depolarization during action potential	ISS
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	22150645
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	22150645
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	22150645

MIM	HGNC	e!Ensembl
182389	10585	ENSG00000144285

P35498

Protein name

Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1)

Protein function

Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent s

PDB

7DTD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	127 → 434	Ion transport protein	Family
PF11933	Na_trans_cytopl	501 → 718	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	767 → 1002	Ion transport protein	Family
PF06512	Na_trans_assoc	1006 → 1213	Sodium ion transport-associated	Family
PF00520	Ion_trans	1217 → 1493	Ion transport protein	Family
PF00520	Ion_trans	1540 → 1797	Ion transport protein	Family

Sequence

MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKN
LPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKI
AIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCL
EDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGAL
IQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNY
NGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNY
GYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILA
VVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLS
DSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEG
NRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFED
NESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVP
TSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASIL
TNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVL
NTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIV
TLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAII
VFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCM
EVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMH
KGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVN
GTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEE
SKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGR
GKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFT
YIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRA
LRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTT
TGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYA
AVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFM
TEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMV
ETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMF
LAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLV
MFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPD
CDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPL
SEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGD
RIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAV
IIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTA
ACPPSYDRVTKPIVEKHEQEGKDEKAKGK

Sequence length

2009

Interactions

View interactions

	KEGG		Reactome
	Dopaminergic synapse		Phase 0 - rapid depolarisation

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 (40)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism	Pathogenic; Likely pathogenic	rs794726827, rs121917994	RCV001003957 RCV001003955	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant epilepsy	Likely pathogenic; Pathogenic	rs2105862149, rs794726730, rs797045940, rs794726762, rs121918622, rs2468221702, rs1553520268, rs2468200195, rs751533302, rs1553546836, rs77216276, rs1559118914, rs121917993, rs121917935, rs1689682880, rs398123588 View all (1 more)	RCV002271866 RCV001824659 RCV001192960 RCV002469061 RCV001192959 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs121918792, rs1689381070, rs1689707865, rs1553531134, rs1698198046, rs794726749, rs779184118, rs796053040, rs528239871, rs760906812, rs2105429381, rs2105432780, rs2105610047, rs794726725, rs746413385 View all (955 more)	RCV001325213 RCV001312722 RCV001327294 RCV001325214 RCV001323407 View all (1072 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy 6B	Likely pathogenic; Pathogenic	rs746413385, rs886042528, rs1696624989, rs1553549667, rs2105486615, rs2105889878, rs2105901693, rs2105861548, rs2105433731, rs2105806338, rs1553520107, rs727504136, rs794726739, rs794726726, rs199727342 View all (43 more)	RCV004546642 RCV001420525 RCV005429056 RCV005023255 RCV004796692 View all (53 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 1	Pathogenic	rs2105983330, rs794726730	RCV001527643 RCV001527645	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 6A	Pathogenic	rs2468513095, rs121917923, rs796053004, rs2468233753, rs121917984	RCV002287596 RCV003326125 RCV002470805 RCV003326176 RCV002470755	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 76	Pathogenic	rs794726827	RCV003338449	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-infantile DEE	Likely pathogenic	rs2105860766	RCV005629671	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs2468181816, rs1553549450, rs1559127505	RCV004696556 RCV004018398 RCV004692159	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Pathogenic; Likely pathogenic	rs794726754, rs748267258, rs2468331313, rs2468532181, rs796053083, rs1057519529	RCV001003954 RCV003484993 RCV003485000 RCV003485001 RCV000416979 RCV000417000 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hemiplegic migraine	Pathogenic	rs2105890052, rs61741123	RCV001533164 RCV002508953	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Febrile seizure (within the age range of 3 months to 6 years)	Pathogenic	rs1553553485	RCV000504593	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Febrile seizures, familial, 1	Pathogenic; Likely pathogenic	rs1684663586, rs121918782	RCV003483768 RCV005863391	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Febrile seizures, familial, 3a	Likely pathogenic; Pathogenic	rs121918624, rs121918631, rs121917935	RCV005243098 RCV000993711 RCV005243110	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal epilepsy	Likely pathogenic; Pathogenic	rs121917993, rs121917994	RCV000059427 RCV000059434	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal impaired awareness seizure	Pathogenic	rs794726827	RCV001290257	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal-onset seizure	Pathogenic; Likely pathogenic	rs773545020, rs121917994	RCV001814638 RCV001003955	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy	Pathogenic	rs121917990	RCV000059384	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy with febrile seizures plus	Likely pathogenic; Pathogenic	rs794726826, rs1057518703, rs121918738, rs61741123	RCV005889656 RCV005900683 RCV005902056 RCV002508953	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy with febrile seizures plus, type 1	Likely pathogenic; Pathogenic	rs121918623, rs121917953, rs121917954, rs121917955, rs121917930, rs121918626, rs121918627, rs121917957, rs121918781, rs121918782, rs121918811, rs121918744, rs121918783, rs1696619508	RCV000059471 RCV000059448 RCV000059409 RCV000059433 RCV000059402 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized epilepsy with febrile seizures plus, type 2	Likely pathogenic; Pathogenic	rs760906812, rs746413385, rs2105868295, rs2105432236, rs2105423415, rs2105425236, rs1696624989, rs2105918665, rs2105433855, rs2105794473, rs121917913, rs1553549667, rs2105851922, rs1574007140, rs1553542262 View all (153 more)	RCV005243521 RCV004546642 RCV001374630 RCV001376169 RCV002246355 View all (166 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs794726827, rs121917984	RCV001003957 RCV001003956	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs794726770, rs781746113, rs121918624, rs1085307484, rs1553548194	RCV001255366 RCV001255357 RCV001257707 RCV001257670 RCV000626774	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Pathogenic	rs1559199628	RCV005901692	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs121917995	RCV000059431	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs121917994	RCV001003955	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine, familial hemiplegic, 3	Likely pathogenic; Pathogenic	rs746413385, rs1553549667, rs2105486615, rs2105889878, rs2105901693, rs2468098342, rs121918737, rs797044985, rs2468233136, rs2468340621, rs2468223021, rs727504136, rs794726739, rs794726759, rs794726752 View all (44 more)	RCV004546642 RCV005023255 RCV004796692 RCV002479417 RCV005017082 View all (54 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mild intellectual disability	Pathogenic	rs121917929	RCV000857236	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonic encephalopathy	Pathogenic	rs121917996	RCV000059423	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA)	Likely pathogenic	rs2468225401	RCV005623546	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2105569724	RCV001374977	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Likely pathogenic; Pathogenic	rs1553548194	RCV000626774	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs1689986058	RCV005909109	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary generalized epilepsy	Pathogenic	rs1559144583	RCV000678840	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN1A Seizure Disorders	Pathogenic; Likely pathogenic	rs794726726, rs796053099, rs2468132693, rs1574266816	RCV003389241 RCV001265591 RCV003315103 RCV004794469	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN1A-related channelopathy	Likely pathogenic	rs1689207347	RCV001822989	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN1A-related disorder	Likely pathogenic; Pathogenic	rs1574202324, rs1131691773, rs794726754, rs794726752, rs794726697, rs794726730, rs794726736, rs794726799, rs139300715, rs796053010, rs121918800, rs121917995, rs886042528, rs121918623, rs121918778 View all (10 more)	RCV004545827 RCV005868384 RCV005867985 RCV005867984 RCV004725018 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs760906812, rs2105843552, rs2105547148, rs1553541172, rs2105866757, rs2105829160, rs2105852267, rs2468141601, rs727504136, rs1553523138, rs794726710, rs794726697, rs794726775, rs794726799, rs794726827 View all (29 more)	RCV001353143 RCV001374452 RCV001391280 RCV002276346 RCV002276347 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe myoclonic epilepsy in infancy	Pathogenic; Likely pathogenic	rs794726749, rs779184118, rs760906812, rs746413385, rs2105868295, rs1573947939, rs1553532671, rs1553547448, rs121918631, rs2105808640, rs1553543340, rs2105889854, rs2105449751, rs2105429648, rs121918788 View all (494 more)	RCV001328665 RCV001334845 RCV005243521 RCV004546642 RCV001374630 View all (534 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sudden unexplained death in childhood	Likely pathogenic	rs2105476794, rs1553560766	RCV001787424 RCV001787423	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (53)

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.
Acute encephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS	—	Disgenet Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant SCN1A-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral tonic-clonic seizure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
carbamazepine response - Dosage	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLINODACTYLY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL JOINT CONTRACTURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRAVET SYNDROME	—	ClinGen, GWAS catalog, HPO, Orphanet ClinGen, GWAS catalog, HPO, Orphanet ClinGen, GWAS catalog, HPO, Orphanet ClinGen, GWAS catalog, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, MYOCLONIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, GENERALIZED	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS, FAMILIAL, 3A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL ONSET IMPAIRED AWARENESS EPILEPTIC SEIZURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized non-motor (absence) seizure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen, ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE, WITHOUT MENTION OF INTRACTABLE MIGRAINE WITHOUT MENTION OF STATUS MIGRAINOSUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LENNOX-GASTAUT SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY	—	Disgenet	★★★★★ ★★☆☆☆ 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
Mitochondrial disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic epilepsy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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
Ovarian cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
pharmacoresistant multifocal epilepsy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN1A-related epilepsy syndrome, recessive	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FEBRILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FOCAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weaver syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (317)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute encephalopathy	Encephalopathy	BEFREE	20491869, 22309220, 23034800, 23808377		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute encephalopathy with biphasic seizures and late reduced diffusion	Encephalopathy With Biphasic Seizures And Diffusion	BEFREE	22309220, 25156649, 26311622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18347169, 20869761, 21889186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	38061235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman syndrome	Pubtator	36750385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	19464195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	19464195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apnea	Apnea	Pubtator	35696452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	30146492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	32928894, 33820833, 35696452	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	19464195, 22000312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	37344172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	21426328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical absence seizure	Absence Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21572417, 22495309, 26637798, 27956748, 30071822, 32722525, 33460646	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	21572417		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22550089, 27956748, 30071822		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	BEFREE	23032131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19154521		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	21906962, 34368859, 37583270	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	23032131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	15805193, 19694741, 23708187, 29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Infantile Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	33820833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	28732259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18413471, 20879882, 21426328, 21753172, 23586701, 24776920, 25268096, 25818041, 27236449, 28518218, 29190809, 29466837, 29981888, 32193085, 32928894 View all (4 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	21426328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17130457, 18347169, 21889186, 22653145, 27424155, 29983869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18483383, 20869761, 21743489, 24200849, 24702277, 28599472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28333919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	28732259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18347169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18347169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	28794249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	11700294, 23639079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24328833, 28012175, 30735520, 38167335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	21906962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23752739, 28713930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31672162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	26747084		★★★★★ ★☆☆☆☆ 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 Dysplasia Of The Hip	Developmental dysplasia of the hip	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28732259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	31176364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Convulsions in the newborn	Convulsions	BEFREE	22029951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	21906962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 1	Deafness	Pubtator	37955180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31056551, 31445158, 33460646, 37467773, 37583270, 40085430, 40120363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	32005694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	32544858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	37583270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dravet syndrome	Dravet Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	25669891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10742094, 11359211, 15508915, 15880351, 16430863, 17347258, 17561957, 18413471, 18930999, 19400878, 20879882, 21248271, 21269283, 21463290, 22409937, 22719002, 24097157, 24836964, 9126059 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	12900796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Early Childhood Epilepsy, Myoclonic	Myoclonic Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early Infantile Epileptic Encephalopathy 6	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	10742094, 19332696, 21555645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early Infantile Epileptic Encephalopathy 6	Epileptic encephalopathy	UNIPROT_DG	11359211, 12083760, 12566275, 12754708, 12821740, 14504318, 14672992, 14738421, 15087100, 15944908, 16122630, 16210358, 16458823, 16713920, 17054684 View all (28 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early Infantile Epileptic Encephalopathy 6	Epileptic encephalopathy	CLINVAR_DG	11359211, 11940708, 12083760, 12566275, 12754708, 12821740, 14738421, 15263074, 15277629, 15508916, 16458823, 16713913, 16713920, 17054684, 17054685 View all (30 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	CLINGEN_DG	28794249, 30779207		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early myoclonic encephalopathy	Myoclonic Encephalopathy	BEFREE	31176277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	18031552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	16713920, 17347258, 19589774, 20447868, 21426328, 21753172, 21844054, 23884151, 25268096, 25843248, 26311622, 27236449, 28084635, 30779207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	31176364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	27236449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	11359211, 12027919, 12773292, 14672992, 14738421, 15028761, 15263074, 15944908, 16210358, 16380441, 17054684, 17054685, 17054696, 17054697, 17065438 View all (149 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	18413471, 20550552, 32538476, 37390664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	LHGDN	18413471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	18632234, 21561445, 22151702, 22292851, 28192756, 30977726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	GWASCAT_DG	25087078, 30531953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	11118488, 11254445, 12086636, 14672992, 14738422, 15041696, 15263074, 15805193, 16210358, 16380441, 17065438, 18242854, 18294202, 18413471, 19464195 View all (91 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	BEFREE	11254445, 11579435, 11700294, 12083760, 12566275, 12821740, 14672992, 14738422, 15041696, 15525788, 15880351, 16054936, 16075041, 16210358, 16380441 View all (152 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	LHGDN	12086636, 16210358, 16713920, 17065438, 17397047, 17507202, 17537961, 18093548		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CTD_human_DG	15805193, 19694741, 23708187, 29942082		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	GWASCAT_DG	25087078, 30531953		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	39781574	Inhibit	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Absence	Absence epilepsy	Pubtator	27113213, 28518218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
epilepsy and migraine	Epilepsy And Migraine	BEFREE	22550089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	21204806, 23163885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	11254445, 12773292, 19292758, 19400878, 24417206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	14738422, 15944908, 24842605, 25268096, 36374051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	17565594, 33370868, 40634438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Akinetic	Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Atonic	Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	BEFREE	17049761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	15805193, 19694741, 23708187, 29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	BEFREE	21713554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	12576172, 16302874, 17507202, 18175077, 19292758, 21775168, 22618127, 24405698, 24679980, 25843248, 26060908, 28505490, 31720899		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	LHGDN	12919402, 17565594, 18251839, 18413471, 18566737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	CTD_human_DG	21480876		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	GWASCAT_DG	30531953		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Myoclonic, Infantile	Myoclonic Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	19464834		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	17565594, 22578703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	17565594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Tonic	Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	BEFREE	15944908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	21463276, 21753172, 24571113, 24776920, 25778844, 26232052, 26482601, 26716362, 28233668, 28262406, 29981888, 30176532, 31009440, 31022638		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	28794249, 30526861, 30735520, 31176277, 32853554, 34181986, 35696452, 36361691, 36571524, 36750385, 36868483, 37467773, 37482918, 37867425, 39915231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36084525	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CLINGEN_DG	28794249, 30779207		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	12754708, 12773292, 15087100, 15526956, 16302874, 16458823, 17049761, 17129991, 17347258, 18076640, 18930999, 19087113, 19203854, 19203856, 19214208 View all (189 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21	Epileptic encephalopathy	CLINVAR_DG	11940708, 12083760, 12566275, 12821740, 14504318, 14738421, 16210358, 16458823, 17054684, 17054685, 17347258, 17561957, 18076640, 18554359, 18804930 View all (22 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 1	Episodic ataxia	BEFREE	11579435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	BEFREE	16866717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Etat Marbre	Status marmoratus	CTD_human_DG	12907273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eyelid Diseases	Eyelid disease	Pubtator	34521063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Paralysis	Facial nerve disorder	Pubtator	37510386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	19464834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	16054936, 17508172, 18451712, 18621678, 18632931, 19007941, 19139296, 19220312, 19332696, 19673951, 21855646, 22550089, 23030542, 23398611, 24646837 View all (9 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial or sporadic hemiplegic migraine	Hemiplegic Migraine	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	12027919, 12742596, 15087100, 17054684, 17565594, 17884755, 18632234, 19289736, 19292758, 19763161, 20477842, 20729507, 21248271, 21762453, 22151702 View all (25 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	LHGDN	12919402, 15087100, 16326807, 17565594, 18251839, 18413471, 18566737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	CTD_human_DG	21480876, 25344690, 25362483		★★★★★ ★★☆☆☆ 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	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions Familial 2	Febrile convulsion	Pubtator	22151702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions, Familial, 3a	Febrile Convulsions	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	24902755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Clonic Seizures	Focal Clonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	24902755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	24902755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Fraser syndrome	Pubtator	12027919, 14738422, 20550552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	20519669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized convulsive epilepsy	Epilepsy with tonic-clonic seizures	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	CLINGEN_DG	10742094, 11254444, 11254445, 11524484, 11756608, 12086636, 12576172, 14702334, 17537961, 19409490, 24257433, 25378155, 25576396, 28084635, 28842445		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	BEFREE	11254445, 11359211, 11524484, 11756608, 11823106, 11888238, 12027919, 12742596, 14504318, 14672992, 14738422, 15028761, 15087100, 15263074, 15277629 View all (32 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	10486327, 11254444, 11359211, 14672992, 14738422, 15694566, 15827091, 15944908, 16359470, 16380441, 17065438, 17561957, 17565594, 18031552, 19292758 View all (24 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 2	Generalized epilepsy with febrile seizures plus	Pubtator	11254445, 16210358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	Epilepsy With Febrile Seizures Plus	GENOMICS_ENGLAND_DG	10742094, 19332696		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	Epilepsy With Febrile Seizures Plus	UNIPROT_DG	10742094, 11254444, 11254445, 11524484, 11756608, 12535936, 12576172, 12919402, 14672992, 15525788, 15694566, 15715999, 16326807, 16525050, 17347258 View all (16 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	Epilepsy With Febrile Seizures Plus	BEFREE	11118488, 15715999, 16210358		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	Epilepsy With Febrile Seizures Plus	CLINVAR_DG	15087100, 16541393, 16713920, 20831750, 22848613		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	Epilepsy With Febrile Seizures Plus	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 Nonconvulsive Seizure Disorder	Nonconvulsive Seizure Disorder	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	28262406, 29679912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	34348663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29649454		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	BEFREE	22780858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24427266, 32761786, 33712547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia	Hemiplegia	Pubtator	19563349, 40003892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine, familial type 1	Hemiplegic migraine	BEFREE	17119788, 17141570, 17142831, 17397047, 18451712, 18632931, 19007941, 19220312, 19332696, 19372756, 19673951, 23398611, 23918834, 24101488, 24646837 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Coma	Hepatic Coma	BEFREE	20392657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	19563349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	24776920, 28794249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	11254445, 15944908, 23429546, 24842605, 28951233, 31720899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	33726816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	11700294, 20194124, 21463282, 21504426, 22341965, 23639079, 24328833, 24571113, 26978272, 31402621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	11359211, 11940708, 12027919, 12083760, 12566275, 12694927, 12754708, 12773292, 12821740, 12837571, 13129592, 14504318, 14672992, 14738421, 15028761 View all (245 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	11359211, 12754708, 16458823, 21463275, 23093055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	GENOMICS_ENGLAND_DG	16054936, 19332696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	CLINGEN_DG	16921370, 17537961, 17928448, 21647847, 23808377, 23821540, 24412860, 26438699, 30185235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	14504318, 25268096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20384724, 24328833, 27113213, 33278787, 35696452	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	22029951, 27113213		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	28191889		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	11254445, 12610651, 31720899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	12610651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	19087113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	19214208, 34979672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	28148630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	22993327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	ORPHANET_DG	17347258, 19782004		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	19782004, 28186331		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	BEFREE	20392657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy corneal type 1	Macular dystrophy	Pubtator	24902755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	24902755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	24902755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	24902755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	25225143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant migrating focal seizures of infancy	Malignant migrating partial seizures of infancy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18347169, 18483383, 20869761, 21743489, 24200849, 24702277, 28599472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29435019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21743489, 22665267, 29163184, 31101655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18347169		★★★★★ ★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALY, AUTOSOMAL DOMINANT	Megalencephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	28191889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	17507202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis	BEFREE	24014518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis	GWASCAT_DG	24014518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis	GWASDB_DG	24014518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	18021921, 18621678, 18759542, 19220312, 19673951, 20735403, 21713554, 22550089, 23030542, 29486580, 29986598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	LHGDN	18021921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	18021921, 26747084, 37510386, 39781574	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Familial Basilar	Migraine	Pubtator	33460646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Familial Hemiplegic 3	Migraine	Pubtator	18021921, 18621678, 26747084, 31730442, 35696452, 39781574	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	17119788, 18021921, 18056581, 18621678, 22784462, 26747084, 26763045, 28593511, 31586957, 31730442, 31980564, 33126486, 34320921, 37510386, 40003892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	17395138, 26747084, 29486580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	LHGDN	18632931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine, Familial Hemiplegic, 3	Hemiplegic Migraine	GENOMICS_ENGLAND_DG	10742094, 19332696		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Migraine, Familial Hemiplegic, 3	Hemiplegic Migraine	UNIPROT_DG	16054936, 17397047, 18021921, 19332696		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Migraine, Familial Hemiplegic, 3	Hemiplegic Migraine	CLINGEN_DG	16054936, 17397047, 17537961, 18021921, 18632931, 19220312, 19332696, 24646837, 24707016, 26747084, 26763045, 27155821, 27919014, 29145747, 30038559, 30498473 View all (1 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Migraine, Familial Hemiplegic, 3	Hemiplegic Migraine	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Migraine, Familial Hemiplegic, 3	Hemiplegic Migraine	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Migrating partial seizures in infancy	Migrating Partial Seizures In Infancy	BEFREE	16168594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex III Deficiency	Mitochondrial complex deficiency	Pubtator	21906962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	21906962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21906962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10742094, 11359211, 15508915, 15880351, 16430863, 17347258, 17561957, 18413471, 18930999, 19400878, 20879882, 21248271, 21269283, 21463290, 22409937, 22719002, 24097157, 24836964, 9126059 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	CTD_human_DG	12907273		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	BEFREE	24776920		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	24776920, 28794249, 34521063, 35696452, 37583270	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Absence Epilepsy	Myotonia Levior	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	BEFREE	15944908, 21396429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Encephalopathy	Myoclonic Encephalopathy	CTD_human_DG	21480876		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	22618127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	11940708, 12083760, 12754708, 12773292, 12837571, 13129592, 14504318, 14738421, 15087100, 15263074, 16430863, 16505326, 17030758, 18479393, 18680191, 19070316 View all (1 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	15944908, 21114141		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	21480876		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	24842605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOCLONIC-ATONIC EPILEPSY	Myoclonic-Atonic Epilepsy	BEFREE	15944908, 19464834, 22780699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17130457, 18347169, 19305429, 21240255		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22534457, 25795284, 28433711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14521994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28837158, 36938796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27113213, 28837158, 31009440		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	Pubtator	25669891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31662442	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obtundation status	Obtundation status	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	21527392		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18483383, 20869761, 21743489, 24200849, 24702277, 28599472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	21240255, 24702277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panayiotopoulos Syndrome	Panayiotopoulos Syndrome	BEFREE	19339291, 22014581, 28192756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Paralysis	Pubtator	14672992, 16210358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24231739		★★★★★ ★☆☆☆☆ Found in Text Mining only
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	BEFREE	17049761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	24902755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	22550089, 23032131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	28191889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29435019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Agitation	Psychiatric disorders	Pubtator	36868483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	33108073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	39950246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rasmussen Syndrome	Rasmussen`s Syndrome	BEFREE	18031552, 21463276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	19087113, 30305042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	30305042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22993327		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN8A-related epilepsy with encephalopathy	Epilepsy With Encephalopathy	BEFREE	27270488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Complex	Seizure	BEFREE	15715999, 24168886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Complex	Seizure	CTD_human_DG	21480876, 25344690, 25362483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Simple	Seizure	BEFREE	16326807, 17565594, 28262406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Simple	Seizure	CTD_human_DG	21480876, 25344690, 25362483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	12086630, 17884755, 18021921, 18031552, 19214208, 20447868, 20550552, 21204810, 21555645, 21753172, 21865128, 21906962, 22092154, 22309220, 22591328 View all (30 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	11254445, 12086636, 12773292, 15263074, 16326807, 17054684, 17565594, 19054398, 19292758, 20477842, 20550552, 20630778, 21204810, 21753172, 21762453 View all (19 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	21426328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	21426328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	20484682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28732259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	23586701, 25268096, 37583270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18347169, 21889186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	LHGDN	18275929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	20392657, 21426328, 23586701, 24225340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	21426328, 22780858, 23586701, 24225340, 32193085, 32773773, 33278787, 34226156, 36229510, 36750385, 39915231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	24861996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Symptomatic Generalized Epilepsy	Epilepsy	BEFREE	19400878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Symptomatic Generalized Epilepsy	Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Symptomatic Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	21480876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly type v	Syndactyly	Pubtator	23945787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	39202364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	12566275, 15944908, 20410126, 21156207, 28262406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic-Clonic Epilepsy	Tonic-Clonic Epilepsy	BEFREE	20410126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	24861996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17054685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	19087113		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	14504318, 25268096		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
West Syndrome	West Syndrome	LHGDN	14504318		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
X-linked infantile spasms	Spasms X-Linked	CLINVAR_DG	11254444, 11940708, 12083760, 12576172, 12754708, 14738421, 16075041, 16541393, 17054684, 17347258, 18076640, 18804930, 18930999, 20522430, 20550552 View all (22 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	25204757, 30779207		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINGEN_DG	28794249, 30779207		★★★★★ ★☆☆☆☆ Found in Text Mining only

SCN1A (sodium voltage-gated channel alpha subunit 1)