GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A)

Gene

• Entrez ID: 2903
• Gene name: Glutamate ionotropic receptor NMDA type subunit 2A
• Gene symbol: GRIN2A
• Synonyms (NCBI Gene): EPND, FESD, GluN2A, LKS, NMDAR2A, NR2A
• Chromosome: 16
• Chromosome location: 16p13.2
• Summary: This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs75761674	A>C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs77029288	T>C	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs77705198	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs113847665	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141912603	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs142566406	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs142670870	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143594020	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs145063086	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs145172949	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs145956175	C>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs146867324	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs368110989	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs372058698	A>C,G,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372083517	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372353067	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs376029542	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs387906637	G>A	Pathogenic	Coding sequence variant, stop gained
rs397514557	G>C	Pathogenic	Missense variant, coding sequence variant
rs397518447	G>T	Pathogenic	Missense variant, coding sequence variant
rs397518450	G>C	Pathogenic	Missense variant, coding sequence variant
rs397518465	C>A,T	Pathogenic	Splice donor variant
rs397518466	A>G	Pathogenic	Missense variant, initiator codon variant, coding sequence variant, genic upstream transcript variant
rs397518467	G>C	Pathogenic	Coding sequence variant, stop gained
rs397518469	T>C	Pathogenic	Splice acceptor variant
rs397518470	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397518471	A>C	Pathogenic	Missense variant, coding sequence variant
rs397518472	G>A	Pathogenic	Coding sequence variant, stop gained
rs587780353	A>T	Pathogenic, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs747838255	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs751455326	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs780654733	A>G	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs796052547	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs796052548	A>C	Pathogenic	Coding sequence variant, missense variant
rs796052551	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052560	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs869312681	T>C	Likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant
rs869312916	T>C	Pathogenic	Missense variant, coding sequence variant
rs879253875	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886039239	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs886039604	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886041308	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042168	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043129	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs886043681	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs1000800098	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518070	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520116	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521810	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057523843	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524089	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060503228	G>C	Pathogenic	Stop gained, coding sequence variant
rs1064794679	C>G	Likely-pathogenic	Intron variant
rs1064795647	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796608	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064796658	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796950	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307961	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1238779318	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1250662891	G>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1445802934	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1555482933	T>A	Pathogenic	Missense variant, coding sequence variant
rs1555483699	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555491538	->G	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555491648	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555492758	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555492769	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555493585	C>G,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1555494676	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1555494699	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555494781	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555496111	A>G	Pathogenic	Missense variant, coding sequence variant
rs1596471698	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1596471934	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1596476657	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596483044	G>-	Pathogenic	Coding sequence variant, stop gained
rs1596494610	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1596494684	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1596586969	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1596587476	->GGACCGCGCC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004578	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR	20159450
MIRT715858	hsa-miR-148a-5p	HITS-CLIP	19536157
MIRT715856	hsa-miR-8485	HITS-CLIP	19536157
MIRT715857	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT715855	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT715854	hsa-miR-603	HITS-CLIP	19536157
MIRT715853	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT715851	hsa-miR-3941	HITS-CLIP	19536157
MIRT715852	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT715850	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715849	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708414	hsa-miR-1276	HITS-CLIP	19536157
MIRT708413	hsa-miR-6800-3p	HITS-CLIP	19536157
MIRT708412	hsa-miR-3914	HITS-CLIP	19536157
MIRT708411	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT708410	hsa-miR-873-5p	HITS-CLIP	19536157
MIRT708409	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT708408	hsa-miR-3183	HITS-CLIP	19536157
MIRT708407	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT708406	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT708405	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT708404	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT708403	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT708402	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT708401	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT657594	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT657593	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT657592	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT496160	hsa-miR-1295b-5p	PAR-CLIP	22291592
MIRT496159	hsa-miR-1912	PAR-CLIP	22291592
MIRT496158	hsa-miR-3130-5p	PAR-CLIP	22291592
MIRT496157	hsa-miR-4482-5p	PAR-CLIP	22291592
MIRT496156	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT496155	hsa-miR-6806-5p	PAR-CLIP	22291592
MIRT496154	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT476075	hsa-miR-583	PAR-CLIP	23592263
MIRT476074	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476073	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT476072	hsa-miR-1185-5p	PAR-CLIP	23592263
MIRT476070	hsa-miR-3679-5p	PAR-CLIP	23592263
MIRT476071	hsa-miR-3665	PAR-CLIP	23592263
MIRT476069	hsa-miR-657	PAR-CLIP	23592263
MIRT476068	hsa-miR-4710	PAR-CLIP	23592263
MIRT476067	hsa-miR-3915	PAR-CLIP	23592263
MIRT715858	hsa-miR-148a-5p	HITS-CLIP	19536157
MIRT715856	hsa-miR-8485	HITS-CLIP	19536157
MIRT715857	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT715855	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT715854	hsa-miR-603	HITS-CLIP	19536157
MIRT715853	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT715851	hsa-miR-3941	HITS-CLIP	19536157
MIRT715852	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT715850	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715849	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708414	hsa-miR-1276	HITS-CLIP	19536157
MIRT708413	hsa-miR-6800-3p	HITS-CLIP	19536157
MIRT708412	hsa-miR-3914	HITS-CLIP	19536157
MIRT708411	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT708410	hsa-miR-873-5p	HITS-CLIP	19536157
MIRT708409	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT708408	hsa-miR-3183	HITS-CLIP	19536157
MIRT708407	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT708406	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT708405	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT708404	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT708403	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT708402	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT708401	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT657594	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT657593	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT657592	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT496160	hsa-miR-1295b-5p	PAR-CLIP	22291592
MIRT496159	hsa-miR-1912	PAR-CLIP	22291592
MIRT496158	hsa-miR-3130-5p	PAR-CLIP	22291592
MIRT496157	hsa-miR-4482-5p	PAR-CLIP	22291592
MIRT496156	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT496155	hsa-miR-6806-5p	PAR-CLIP	22291592
MIRT496154	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT476075	hsa-miR-583	PAR-CLIP	23592263
MIRT476074	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476073	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT476072	hsa-miR-1185-5p	PAR-CLIP	23592263
MIRT476070	hsa-miR-3679-5p	PAR-CLIP	23592263
MIRT476071	hsa-miR-3665	PAR-CLIP	23592263
MIRT476069	hsa-miR-657	PAR-CLIP	23592263
MIRT476068	hsa-miR-4710	PAR-CLIP	23592263
MIRT476067	hsa-miR-3915	PAR-CLIP	23592263
MIRT1034351	hsa-miR-106a	CLIP-seq
MIRT1034352	hsa-miR-106b	CLIP-seq
MIRT1034353	hsa-miR-1226	CLIP-seq
MIRT1034354	hsa-miR-1257	CLIP-seq
MIRT1034355	hsa-miR-1297	CLIP-seq
MIRT1034356	hsa-miR-1305	CLIP-seq
MIRT1034357	hsa-miR-142-5p	CLIP-seq
MIRT1034358	hsa-miR-146a	CLIP-seq
MIRT1034359	hsa-miR-146b-5p	CLIP-seq
MIRT1034360	hsa-miR-155	CLIP-seq
MIRT1034361	hsa-miR-17	CLIP-seq
MIRT1034362	hsa-miR-181a	CLIP-seq
MIRT1034363	hsa-miR-181b	CLIP-seq
MIRT1034364	hsa-miR-181c	CLIP-seq
MIRT1034365	hsa-miR-181d	CLIP-seq
MIRT1034366	hsa-miR-197	CLIP-seq
MIRT1034367	hsa-miR-20a	CLIP-seq
MIRT1034368	hsa-miR-20b	CLIP-seq
MIRT1034369	hsa-miR-26a	CLIP-seq
MIRT1034370	hsa-miR-26b	CLIP-seq
MIRT1034371	hsa-miR-27a	CLIP-seq
MIRT1034372	hsa-miR-27b	CLIP-seq
MIRT1034373	hsa-miR-302a	CLIP-seq
MIRT1034374	hsa-miR-302b	CLIP-seq
MIRT1034375	hsa-miR-302c	CLIP-seq
MIRT1034376	hsa-miR-302d	CLIP-seq
MIRT1034377	hsa-miR-302e	CLIP-seq
MIRT1034378	hsa-miR-3138	CLIP-seq
MIRT1034379	hsa-miR-3158-5p	CLIP-seq
MIRT1034380	hsa-miR-3160-5p	CLIP-seq
MIRT1034381	hsa-miR-3170	CLIP-seq
MIRT1034382	hsa-miR-3174	CLIP-seq
MIRT1034383	hsa-miR-3190	CLIP-seq
MIRT1034384	hsa-miR-342-5p	CLIP-seq
MIRT1034385	hsa-miR-3609	CLIP-seq
MIRT1034386	hsa-miR-3659	CLIP-seq
MIRT1034387	hsa-miR-372	CLIP-seq
MIRT1034388	hsa-miR-373	CLIP-seq
MIRT1034389	hsa-miR-4262	CLIP-seq
MIRT1034390	hsa-miR-4276	CLIP-seq
MIRT1034391	hsa-miR-4465	CLIP-seq
MIRT1034392	hsa-miR-4511	CLIP-seq
MIRT1034393	hsa-miR-4651	CLIP-seq
MIRT1034394	hsa-miR-4658	CLIP-seq
MIRT1034395	hsa-miR-4664-5p	CLIP-seq
MIRT1034396	hsa-miR-4698	CLIP-seq
MIRT1034397	hsa-miR-4733-3p	CLIP-seq
MIRT1034398	hsa-miR-4796-3p	CLIP-seq
MIRT1034399	hsa-miR-498	CLIP-seq
MIRT1034400	hsa-miR-5096	CLIP-seq
MIRT1034401	hsa-miR-513a-5p	CLIP-seq
MIRT1034402	hsa-miR-519a	CLIP-seq
MIRT1034403	hsa-miR-519b-3p	CLIP-seq
MIRT1034404	hsa-miR-519c-3p	CLIP-seq
MIRT1034405	hsa-miR-519d	CLIP-seq
MIRT1034406	hsa-miR-520a-3p	CLIP-seq
MIRT1034407	hsa-miR-520b	CLIP-seq
MIRT1034408	hsa-miR-520c-3p	CLIP-seq
MIRT1034409	hsa-miR-520d-3p	CLIP-seq
MIRT1034410	hsa-miR-520e	CLIP-seq
MIRT1034411	hsa-miR-548ah	CLIP-seq
MIRT1034412	hsa-miR-548b-3p	CLIP-seq
MIRT1034413	hsa-miR-574-5p	CLIP-seq
MIRT1034414	hsa-miR-590-3p	CLIP-seq
MIRT1034415	hsa-miR-607	CLIP-seq
MIRT1034416	hsa-miR-608	CLIP-seq
MIRT1034417	hsa-miR-630	CLIP-seq
MIRT1034418	hsa-miR-93	CLIP-seq
MIRT1034419	hsa-miR-105	CLIP-seq
MIRT1034420	hsa-miR-1185	CLIP-seq
MIRT1034421	hsa-miR-1279	CLIP-seq
MIRT1034356	hsa-miR-1305	CLIP-seq
MIRT1034422	hsa-miR-130a	CLIP-seq
MIRT1034423	hsa-miR-130b	CLIP-seq
MIRT1034424	hsa-miR-136	CLIP-seq
MIRT1034425	hsa-miR-137	CLIP-seq
MIRT1034426	hsa-miR-1587	CLIP-seq
MIRT1034366	hsa-miR-197	CLIP-seq
MIRT1034427	hsa-miR-301a	CLIP-seq
MIRT1034428	hsa-miR-301b	CLIP-seq
MIRT1034373	hsa-miR-302a	CLIP-seq
MIRT1034374	hsa-miR-302b	CLIP-seq
MIRT1034375	hsa-miR-302c	CLIP-seq
MIRT1034376	hsa-miR-302d	CLIP-seq
MIRT1034377	hsa-miR-302e	CLIP-seq
MIRT1034429	hsa-miR-3121-3p	CLIP-seq
MIRT1034430	hsa-miR-3127-3p	CLIP-seq
MIRT1034431	hsa-miR-3152-3p	CLIP-seq
MIRT1034432	hsa-miR-3155	CLIP-seq
MIRT1034433	hsa-miR-3155b	CLIP-seq
MIRT1034434	hsa-miR-3161	CLIP-seq
MIRT1034382	hsa-miR-3174	CLIP-seq
MIRT1034383	hsa-miR-3190	CLIP-seq
MIRT1034435	hsa-miR-324-5p	CLIP-seq
MIRT1034384	hsa-miR-342-5p	CLIP-seq
MIRT1034436	hsa-miR-3613-3p	CLIP-seq
MIRT1034437	hsa-miR-3647-3p	CLIP-seq
MIRT1034386	hsa-miR-3659	CLIP-seq
MIRT1034438	hsa-miR-3666	CLIP-seq
MIRT1034439	hsa-miR-3671	CLIP-seq
MIRT1034440	hsa-miR-3679-3p	CLIP-seq
MIRT1034441	hsa-miR-3686	CLIP-seq
MIRT1034387	hsa-miR-372	CLIP-seq
MIRT1034388	hsa-miR-373	CLIP-seq
MIRT1034442	hsa-miR-3917	CLIP-seq
MIRT1034443	hsa-miR-4257	CLIP-seq
MIRT1034444	hsa-miR-4295	CLIP-seq
MIRT1034445	hsa-miR-4417	CLIP-seq
MIRT1034446	hsa-miR-4438	CLIP-seq
MIRT1034447	hsa-miR-4492	CLIP-seq
MIRT1034448	hsa-miR-4498	CLIP-seq
MIRT1034449	hsa-miR-4502	CLIP-seq
MIRT1034450	hsa-miR-454	CLIP-seq
MIRT1034393	hsa-miR-4651	CLIP-seq
MIRT1034451	hsa-miR-4656	CLIP-seq
MIRT1034394	hsa-miR-4658	CLIP-seq
MIRT1034395	hsa-miR-4664-5p	CLIP-seq
MIRT1034452	hsa-miR-4666-5p	CLIP-seq
MIRT1034453	hsa-miR-4675	CLIP-seq
MIRT1034454	hsa-miR-4714-3p	CLIP-seq
MIRT1034455	hsa-miR-4722-3p	CLIP-seq
MIRT1034456	hsa-miR-4741	CLIP-seq
MIRT1034457	hsa-miR-4742-3p	CLIP-seq
MIRT1034458	hsa-miR-4775	CLIP-seq
MIRT1034459	hsa-miR-4778-5p	CLIP-seq
MIRT1034460	hsa-miR-4780	CLIP-seq
MIRT1034461	hsa-miR-4802-3p	CLIP-seq
MIRT1034462	hsa-miR-484	CLIP-seq
MIRT1034463	hsa-miR-488	CLIP-seq
MIRT1034399	hsa-miR-498	CLIP-seq
MIRT1034402	hsa-miR-519a	CLIP-seq
MIRT1034403	hsa-miR-519b-3p	CLIP-seq
MIRT1034404	hsa-miR-519c-3p	CLIP-seq
MIRT1034406	hsa-miR-520a-3p	CLIP-seq
MIRT1034407	hsa-miR-520b	CLIP-seq
MIRT1034408	hsa-miR-520c-3p	CLIP-seq
MIRT1034409	hsa-miR-520d-3p	CLIP-seq
MIRT1034410	hsa-miR-520e	CLIP-seq
MIRT1034464	hsa-miR-539	CLIP-seq
MIRT1034465	hsa-miR-541	CLIP-seq
MIRT1034413	hsa-miR-574-5p	CLIP-seq
MIRT1034414	hsa-miR-590-3p	CLIP-seq
MIRT1034415	hsa-miR-607	CLIP-seq
MIRT1034416	hsa-miR-608	CLIP-seq
MIRT1034466	hsa-miR-616	CLIP-seq
MIRT1034467	hsa-miR-654-5p	CLIP-seq
MIRT1034468	hsa-miR-656	CLIP-seq
MIRT1034469	hsa-miR-762	CLIP-seq
MIRT1549389	hsa-miR-217	CLIP-seq
MIRT1921631	hsa-miR-1273e	CLIP-seq
MIRT1921632	hsa-miR-129-5p	CLIP-seq
MIRT1921633	hsa-miR-450b-3p	CLIP-seq
MIRT1921634	hsa-miR-4713-3p	CLIP-seq
MIRT1921635	hsa-miR-638	CLIP-seq
MIRT1921636	hsa-miR-769-3p	CLIP-seq
MIRT1921631	hsa-miR-1273e	CLIP-seq
MIRT1921632	hsa-miR-129-5p	CLIP-seq
MIRT1921633	hsa-miR-450b-3p	CLIP-seq
MIRT1921634	hsa-miR-4713-3p	CLIP-seq
MIRT1921635	hsa-miR-638	CLIP-seq
MIRT1921636	hsa-miR-769-3p	CLIP-seq
MIRT1921631	hsa-miR-1273e	CLIP-seq
MIRT1921632	hsa-miR-129-5p	CLIP-seq
MIRT1921633	hsa-miR-450b-3p	CLIP-seq
MIRT1921634	hsa-miR-4713-3p	CLIP-seq
MIRT1921635	hsa-miR-638	CLIP-seq
MIRT1921636	hsa-miR-769-3p	CLIP-seq
MIRT2239243	hsa-miR-1273d	CLIP-seq
MIRT1034421	hsa-miR-1279	CLIP-seq
MIRT2239244	hsa-miR-1303	CLIP-seq
MIRT1034422	hsa-miR-130a	CLIP-seq
MIRT1034423	hsa-miR-130b	CLIP-seq
MIRT1034425	hsa-miR-137	CLIP-seq
MIRT1034360	hsa-miR-155	CLIP-seq
MIRT2239245	hsa-miR-190	CLIP-seq
MIRT2239246	hsa-miR-190b	CLIP-seq
MIRT1034427	hsa-miR-301a	CLIP-seq
MIRT1034428	hsa-miR-301b	CLIP-seq
MIRT2239247	hsa-miR-3065-5p	CLIP-seq
MIRT2239248	hsa-miR-3140-5p	CLIP-seq
MIRT1034380	hsa-miR-3160-5p	CLIP-seq
MIRT1034381	hsa-miR-3170	CLIP-seq
MIRT1034382	hsa-miR-3174	CLIP-seq
MIRT2239249	hsa-miR-3180-5p	CLIP-seq
MIRT1034383	hsa-miR-3190	CLIP-seq
MIRT2239250	hsa-miR-3201	CLIP-seq
MIRT1034384	hsa-miR-342-5p	CLIP-seq
MIRT2239251	hsa-miR-34b	CLIP-seq
MIRT1034386	hsa-miR-3659	CLIP-seq
MIRT1034438	hsa-miR-3666	CLIP-seq
MIRT1034441	hsa-miR-3686	CLIP-seq
MIRT2239252	hsa-miR-409-3p	CLIP-seq
MIRT2239253	hsa-miR-4254	CLIP-seq
MIRT2239254	hsa-miR-4282	CLIP-seq
MIRT2239255	hsa-miR-4292	CLIP-seq
MIRT1034444	hsa-miR-4295	CLIP-seq
MIRT2239256	hsa-miR-4308	CLIP-seq
MIRT2239257	hsa-miR-4423-3p	CLIP-seq
MIRT2239258	hsa-miR-4487	CLIP-seq
MIRT2239259	hsa-miR-4504	CLIP-seq
MIRT1034392	hsa-miR-4511	CLIP-seq
MIRT1034450	hsa-miR-454	CLIP-seq
MIRT1034393	hsa-miR-4651	CLIP-seq
MIRT1034394	hsa-miR-4658	CLIP-seq
MIRT1034395	hsa-miR-4664-5p	CLIP-seq
MIRT2239260	hsa-miR-4791	CLIP-seq
MIRT2239261	hsa-miR-4797-5p	CLIP-seq
MIRT1034463	hsa-miR-488	CLIP-seq
MIRT2239262	hsa-miR-491-3p	CLIP-seq
MIRT2239263	hsa-miR-499-3p	CLIP-seq
MIRT2239264	hsa-miR-499a-3p	CLIP-seq
MIRT2239265	hsa-miR-513a-3p	CLIP-seq
MIRT2239266	hsa-miR-520a-5p	CLIP-seq
MIRT2239267	hsa-miR-525-5p	CLIP-seq
MIRT1034413	hsa-miR-574-5p	CLIP-seq
MIRT2239268	hsa-miR-580	CLIP-seq
MIRT1034416	hsa-miR-608	CLIP-seq
MIRT1034466	hsa-miR-616	CLIP-seq
MIRT2239269	hsa-miR-660	CLIP-seq
MIRT2239270	hsa-miR-670	CLIP-seq
MIRT2239271	hsa-miR-759	CLIP-seq
MIRT2239272	hsa-miR-877	CLIP-seq
MIRT2239245	hsa-miR-190	CLIP-seq
MIRT2239246	hsa-miR-190b	CLIP-seq
MIRT2239250	hsa-miR-3201	CLIP-seq
MIRT2239258	hsa-miR-4487	CLIP-seq
MIRT1034392	hsa-miR-4511	CLIP-seq
MIRT2239260	hsa-miR-4791	CLIP-seq
MIRT1921631	hsa-miR-1273e	CLIP-seq
MIRT1921632	hsa-miR-129-5p	CLIP-seq
MIRT1921633	hsa-miR-450b-3p	CLIP-seq
MIRT1921634	hsa-miR-4713-3p	CLIP-seq
MIRT1921635	hsa-miR-638	CLIP-seq
MIRT1921636	hsa-miR-769-3p	CLIP-seq
MIRT2543107	hsa-miR-2277-3p	CLIP-seq
MIRT2543108	hsa-miR-3691-5p	CLIP-seq
MIRT2543109	hsa-miR-425	CLIP-seq
MIRT2543110	hsa-miR-4752	CLIP-seq
MIRT1034430	hsa-miR-3127-3p	CLIP-seq
MIRT2682086	hsa-miR-3664-3p	CLIP-seq
MIRT1034440	hsa-miR-3679-3p	CLIP-seq
MIRT2682087	hsa-miR-4433	CLIP-seq
MIRT2682088	hsa-miR-4459	CLIP-seq
MIRT2682089	hsa-miR-4768-3p	CLIP-seq
MIRT1034460	hsa-miR-4780	CLIP-seq
MIRT1034463	hsa-miR-488	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	TAS	26719327
GO:0001964	Process	Startle response	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0004972	Function	NMDA glutamate receptor activity	IBA
GO:0004972	Function	NMDA glutamate receptor activity	IDA	20890276, 23933819, 23933820, 24504326, 26875626, 26919761, 27288002, 28095420, 28126851, 28242877, 29644724, 36117210, 38307912, 38538865
GO:0004972	Function	NMDA glutamate receptor activity	IEA
GO:0004972	Function	NMDA glutamate receptor activity	ISS
GO:0004972	Function	NMDA glutamate receptor activity	TAS	8768735, 17526495
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11937501, 17360663, 17997397, 21653829, 34321660
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23933820, 26875626, 26919761, 27839871, 28095420, 28242877, 38538865
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISO
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8768735
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	8768735
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	7816096
GO:0007420	Process	Brain development	NAS	17526495
GO:0007611	Process	Learning or memory	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007611	Process	Learning or memory	TAS	7816096
GO:0007612	Process	Learning	IEA
GO:0007613	Process	Memory	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0008542	Process	Visual learning	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	IBA
GO:0017146	Component	NMDA selective glutamate receptor complex	IDA	10480938, 26875626, 28095420
GO:0017146	Component	NMDA selective glutamate receptor complex	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	ISO
GO:0017146	Component	NMDA selective glutamate receptor complex	ISS
GO:0017146	Component	NMDA selective glutamate receptor complex	TAS	17526495
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IDA	26875626
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IMP	27839871
GO:0030163	Process	Protein catabolic process	IEA
GO:0030431	Process	Sleep	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033058	Process	Directional locomotion	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	ISO
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	ISS
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	36117210, 38538865
GO:0038023	Function	Signaling receptor activity	IEA
GO:0040011	Process	Locomotion	IEA
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042428	Process	Serotonin metabolic process	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045211	Component	Postsynaptic membrane	NAS	15317856
GO:0045471	Process	Response to ethanol	IDA	18445116
GO:0045471	Process	Response to ethanol	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	NAS	17526495
GO:0048168	Process	Regulation of neuronal synaptic plasticity	NAS	15003177
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISO
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IBA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060291	Process	Long-term synaptic potentiation	IBA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	24504326, 28242877, 36117210, 38538865
GO:0097060	Component	Synaptic membrane	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IDA	26875626
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IEA
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IMP	27839871
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	26875626, 38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	26875626, 38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	ISO
GO:0098655	Process	Monoatomic cation transmembrane transport	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098976	Process	Excitatory chemical synaptic transmission	NAS	17526495
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1903539	Process	Protein localization to postsynaptic membrane	IEA
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	ISO
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1904646	Process	Cellular response to amyloid-beta	IGI	21883149
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISO
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS

Other IDs

• MIM: 138253
• HGNC: 4585
• e!Ensembl: ENSG00000183454

Protein

• UniProt ID: Q12879
• Protein name: Glutamate receptor ionotropic, NMDA 2A (GluN2A) (Glutamate [NMDA] receptor subunit epsilon-1) (N-methyl D-aspartate receptor subtype 2A) (NMDAR2A) (NR2A) (hNR2A)
• Protein function: Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:20890276, PubMed:23933818, PubMed:23933819,
• PDB: 3NFL, 5H8F, 5H8H, 5H8N, 5H8Q, 5I2K, 5I2N, 5KCJ, 5KDT, 5TP9, 5TPA, 6IRA, 6IRF, 6IRG, 6IRH, 7EOQ, 7EOR, 7EOS, 7EOT, 7EOU, 7EU7, 8E99, 8JIZ, 8JJ0, 8JJ1, 8JJ2, 8VUH, 8VUJ, 8VUL, 8VUN, 8VUQ, 8VUR, 8VUT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	69 → 327	Receptor family ligand binding region	Family
  PF10613	Lig_chan-Glu_bd	404 → 541	Ligated ion channel L-glutamate- and glycine-binding site	Domain
  PF00060	Lig_chan	554 → 828	Ligand-gated ion channel	Family
  PF10565	NMDAR2_C	839 → 1464	N-methyl D-aspartate receptor 2B3 C-terminus	Family

• Sequence:

  MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQA
  AGLPLDVNVVALLMNRTDPKSLITHVCDLMSGARIHGLVFGDDTDQEAVAQMLDFISSHT
  FVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGY
  REFISFVKTTVDNSFVGWDMQNVITLDTSFEDAKTQVQLKKIHSSVILLYCSKDEAVLIL
  SEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILT
  TAASSMLEKFSYIPEAKASCYGQMERPEVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPR
  LVVIVLNKDREWEKVGKWENHTLSLRHAVWPRYKSFSDCEPDDNHLSIVTLEEAPFVIVE
  DIDPLTETCVRNTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVKFTYDLYLV
  TNGKHGKKVNNVWNGMIGEVVYQRAVMAVGSLTINEERSEVVDFSVPFVETGISVMVSRS
  NGTVSPSAFLEPFSASVWVMMFVMLLIVSAIAVFVFEYFSPVGYNRNLAKGKAPHGPSFT
  IGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEFVD
  QVTGLSDKKFQRPHDYSPPFRFGTVPNGSTERNIRNNYPYMHQYMTKFNQKGVEDALVSL
  KTGKLDAFIYDAAVLNYKAGRDEGCKLVTIGSGYIFATTGYGIALQKGSPWKRQIDLALL
  QFVGDGEMEELETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFIWEHL
  FYWKLRFCFTGVCSDRPGLLFSISRGIYSCIHGVHIEEKKKSPDFNLTGSQSNMLKLLRS
  AKNISSMSNMNSSRMDSPKRAADFIQRGSLIMDMVSDKGNLMYSDNRSFQGKESIFGDNM
  NELQTFVANRQKDNLNNYVFQGQHPLTLNESNPNTVEVAVSTESKANSRPRQLWKKSVDS
  IRQDSLSQNPVSQRDEATAENRTHSLKSPRYLPEEMAHSDISETSNRATCHREPDNSKNH
  KTKDNFKRSVASKYPKDCSEVERTYLKTKSSSPRDKIYTIDGEKEPGFHLDPPQFVENVT
  LPENVDFPDPYQDPSENFRKGDSTLPMNRNPLHNEEGLSNNDQYKLYSKHFTLKDKGSPH
  SETSERYRQNSTHCRSCLSNMPTYSGHFTMRSPFKCDACLRMGNLYDIDEDQMLQETGNP
  ATGEQVYQQDWAQNNALQLQKNKLRISRQHSYDNIVDKPRELDLSRPSRSISLKDRERLL
  EGNFYGSLFSVPSSKLSGKKSSLFPQGLEDSKRSKSLLPDHTSDNPFLHSHRDDQRLVIG
  RCPSDPYKHSLPSQAVNDSYLRSSLRSTASYCSRDSRGHNDVYISEHVMPYAANKNNMYS
  TPRVLNSCSNRRVYKKMPSIESDV

• Sequence length: 1464

Pathways

KEGG:

Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
cAMP signaling pathway
Neuroactive ligand-receptor interaction
Circadian entrainment
Long-term potentiation
Glutamatergic synapse
Dopaminergic synapse
Alzheimer disease
Amyotrophic lateral sclerosis
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Nicotine addiction
Alcoholism
Systemic lupus erythematosus

Reactome:

Unblocking of NMDA receptors, glutamate binding and activation
Synaptic adhesion-like molecules
Assembly and cell surface presentation of NMDA receptors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal cerebral morphology	Likely pathogenic; Pathogenic	rs397518465	RCV002274908	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CTCF-related neurodevelopmental disorder	Likely pathogenic	rs2141631138	RCV001837558	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia, intellectual disability and language impairment	Likely pathogenic	rs879253875	RCV000236367	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Likely pathogenic; Pathogenic	rs869312681	RCV004017490	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs2141294532	RCV004798937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GRIN2A-related complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs869312916	RCV005868118	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1596476657, rs1445802934, rs2044762657	RCV000851496 RCV001260638 RCV001260639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Landau-Kleffner syndrome	Pathogenic; Likely pathogenic	rs1555455727, rs1903130042, rs2141342055, rs751455326, rs2141325180, rs2042665950, rs2141346217, rs2141136701, rs1555492790, rs2141344569, rs1555496202, rs1555501093, rs2141630590, rs1555455815, rs2141313144, rs2141632418, rs752241086, rs2142390867, rs143833346, rs2141633312, rs1555455776, rs1555455726, rs1555455521, rs2141482042, rs2042854251, rs2141346061, rs2141342590, rs2141342580, rs2141342254, rs2141341804, rs2141325598, rs2141313067, rs779219028, rs775819322, rs2141312109, rs2141312103, rs2141295189, rs2141294703, rs2141230698, rs2141230279, rs2141230262, rs1198247451, rs2141151209, rs2141632382, rs2141631426, rs2141369514, rs1057523843, rs2141312803, rs2141312286, rs2141312277, rs2141294973, rs2141294911, rs2141294795, rs774228933, rs2141631751, rs2141341781, rs1321794341, rs2141130040, rs2141369731, rs2141230207, rs2141325169, rs2141312814, rs1555488094, rs2141294782, rs2141325573, rs2141325752, rs2141294532, rs2141325493, rs2142389389, rs868762895, rs2141124790, rs2141231277, rs756382250, rs2506123378, rs2505966575, rs2506094896, rs796052551, rs796052549, rs762659685, rs1555491654, rs796052547, rs796052545, rs1555492763, rs1555492766, rs747838255, rs796052560, rs2505965079, rs2542861359, rs2506111827, rs2141341943, rs2506039338, rs2542990029, rs2543140979, rs2543143325, rs1555491453, rs2542834555, rs770546037, rs776791010, rs1555494671, rs869312681, rs869312916, rs2543139833, rs1900691662, rs2544030726, rs2505968287, rs886039604, rs1784589315, rs2506112058, rs2543141007, rs2505980836, rs2505968683, rs2506111725, rs1555482761, rs1295182898, rs1057519552, rs2141126974, rs2506094595, rs2542861401, rs1567282497, rs2506094829, rs2505980883, rs2544033057, rs2141346210, rs2141150691, rs1057521810, rs1057524089, rs387906637, rs397518447, rs1060503228, rs1064796608, rs1064795647, rs1064795143, rs1064796950, rs1085307961, rs1250662891, rs1555488144, rs1555491648, rs1555496111, rs397518465, rs1238779318, rs1555488119, rs1555492758, rs397514557, rs397518450, rs1555491538, rs1555493585, rs1555492769, rs1567337914, rs397518470, rs1596586969, rs1596587476, rs1596377439, rs1596377481, rs1596483044, rs1360906241, rs2141346170, rs1596476657, rs1596471698, rs1596494610, rs2042667149, rs2506111442, rs2542832421, rs2141345683, rs2542835757, rs397518469, rs1900702353, rs2043686667, rs2042447850, rs2043685576, rs1903138230, rs2050242587, rs267604688, rs2044763223, rs757713617, rs1900666405, rs2042851617, rs1555455620, rs2042447540, rs2042448930, rs2042847630, rs397518466, rs397518467, rs397518468, rs397518471, rs397518472, rs1555494686, rs2042850660, rs1555455618, rs2042451238, rs2050235998, rs1445802934, rs2044762657, rs1555483728, rs2141632937, rs2042449005, rs2042303226	RCV001330049 RCV001345400 RCV001368793 RCV001376045 RCV001378997 RCV001379871 RCV001378390 RCV001380855 RCV001381123 RCV001381269 RCV001389555 RCV001390021 RCV001381110 RCV001387041 RCV001420575 RCV001775341 RCV001785240 RCV001785242 RCV001785243 RCV001785244 RCV001785245 RCV001785246 RCV001785247 RCV001785248 RCV001785249 RCV001785250 RCV001785251 RCV001785253 RCV001785254 RCV001785255 RCV001785256 RCV001785257 RCV001785258 RCV001785259 RCV001785260 RCV001785261 RCV001785263 RCV001785264 RCV001785265 RCV001785266 RCV001785267 RCV001785268 RCV001785269 RCV001785270 RCV001785395 RCV001785396 RCV001785397 RCV001785399 RCV001785400 RCV001785403 RCV001785404 RCV001785405 RCV001785406 RCV001785407 RCV001930216 RCV001928401 RCV001993572 RCV002032086 RCV001941717 RCV002007353 RCV002006784 RCV002000291 RCV001960520 RCV001996025 RCV002014111 RCV002041725 RCV002033470 RCV001978296 RCV001918602 RCV001984109 RCV002249064 RCV002250032 RCV002260528 RCV003156052 RCV002287580 RCV002289325 RCV002289349 RCV001781551 RCV001781550 RCV000254568 RCV001253314 RCV001781549 RCV001781548 RCV001785401 RCV003223530 RCV001781553 RCV001781552 RCV002806960 RCV002829074 RCV002842937 RCV002833717 RCV002881462 RCV002847454 RCV002871814 RCV002871149 RCV002862616 RCV002914491 RCV003021058 RCV003033422 RCV003036326 RCV000209878 RCV001330044 RCV003128355 RCV003145912 RCV005100926 RCV003225010 RCV003227556 RCV001782756 RCV003441154 RCV003582258 RCV003582243 RCV003582474 RCV003582476 RCV003582781 RCV003582945 RCV003582947 RCV003582808 RCV003582076 RCV003741727 RCV003741812 RCV003741813 RCV003741789 RCV003741808 RCV003742117 RCV003742112 RCV003885400 RCV001782904 RCV001782905 RCV000546009 RCV000022584 RCV000022585 RCV000473955 RCV001782971 RCV001782970 RCV000688647 RCV001851273 RCV001782975 RCV001782995 RCV001360564 RCV001782992 RCV001782993 RCV003581671 RCV001782994 RCV000544675 RCV000578290 RCV000032866 RCV000032867 RCV000585832 RCV001855316 RCV000639585 RCV000639593 RCV000693871 RCV000687870 RCV000800699 RCV000822999 RCV000822453 RCV000808666 RCV000794560 RCV000806105 RCV000793732 RCV001858504 RCV000984985 RCV000989525 RCV000989526 RCV001031008 RCV001004664 RCV001004726 RCV001004734 RCV001004713 RCV001004716 RCV001004710 RCV001070099 RCV001041788 RCV001035940 RCV001089991 RCV004761929 RCV001175145 RCV001175146 RCV001175147 RCV001326955 RCV001192665 RCV001209558 RCV001224565 RCV001224720 RCV001220196 RCV001223817 RCV001211099 RCV001202493 RCV001201662 RCV000074386 RCV000074387 RCV000074388 RCV000074389 RCV000074390 RCV000074391 RCV000074392 RCV000074393 RCV001235339 RCV001228341 RCV001237105 RCV001252253 RCV001253076 RCV002274166 RCV003227948 RCV001262220 RCV001374373 RCV001780221 RCV001290247	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Pathogenic	rs1555494699	RCV006274100	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs2506111451	RCV003228229	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1555491654	RCV001778779	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs796052549, rs2506039306, rs397518465, rs397518468	RCV005624340 RCV004585216 RCV005624318 RCV005624319	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Self-limited epilepsy with centrotemporal spikes	Likely pathogenic; Pathogenic	rs1250662891, rs1439688451, rs1555488144, rs1555491648, rs1555494676, rs1555496111, rs397518465, rs1238779318, rs1567337914	RCV000656053 RCV000656044 RCV000656045 RCV000656046 RCV000656047 RCV000656048 RCV000656050 RCV000656051 RCV000678803 RCV000656049	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, ClinGen	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONTINUOUS SPIKE AND WAVE DURING SLOW WAVE SLEEP SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTINUOUS SPIKES AND WAVES DURING SLEEP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH SPIKE-WAVE ACTIVATION IN SLEEP	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, familial temporal lobe, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DEVELOPMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyridoxine-dependent epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY, SPEECH DYSPRAXIA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY-SPEECH DYSPRAXIA SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	31746486		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	35177115	Associate	★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15287897	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34269494, 37302762, 39210294, 39650656	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20732897		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	23933818, 25596506, 29056244, 29644724		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	23933818, 25596506, 28242877, 28936771	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	22738016, 25596506	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	25596506		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28767591	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	23226551	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	24504326	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	23295062, 34923109	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	14699423, 14966475, 23295062, 27624150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical absence seizure	Absence Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Auditory Processing Disorder, Central	Auditory processing disorder	CTD_human_DG	23933820		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22833210, 32722525, 34726335, 35773312	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22326929, 22833210, 30481555, 31133774		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	15830322		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	15830322		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	15830322, 22738016	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22738016		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	20890276, 23933818		★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	BEFREE	23933818, 29056244		★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	ORPHANET_DG	23933819		★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	CTD_human_DG	23933819		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15952869, 17113057, 17299517, 18534564, 18585682, 20148871, 22280433, 31652432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	17113057, 18585682, 28751646, 35260864	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17299517, 18534564, 18585682, 20148871, 22280433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24504326, 26648591, 28936771, 40149474	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28431607		★☆☆☆☆ Found in Text Mining only
Brunner Syndrome	Brunner syndrome	Pubtator	34923109	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	33928395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39694330	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	26797520, 28102473		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18688011		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	26834157		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19736238		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	40149474	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17922030		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17922030		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17922030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17922030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Abnormalities	Congenital abnormalities	Pubtator	20384727	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28007608		★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Continuous spike and waves during slow sleep	Continuous spike and waves during slow sleep	BEFREE	22738016, 23933820		★☆☆☆☆ Found in Text Mining only
Continuous spike and waves during slow sleep	Continuous spike and waves during slow sleep	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	10506512		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	39210294	Associate	★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	16482087, 19605640, 19834457, 23557693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	19834457, 29704590, 30296532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	23933818, 24372385, 24504326, 24903190, 28126851, 28182669, 34726335, 36036558, 37319252, 38307912, 40149474	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30931101		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30931101		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	28182669, 38307912	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	25596506		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	25596506	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	28823933		★☆☆☆☆ Found in Text Mining only
Dyslalia	Dyslalia	CTD_human_DG	23933820		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Epileptic Encephalopathy And Intellectual Disability	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathies	Epileptic encephalopathy	BEFREE	23933818, 23933820, 28936771		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	28182669, 37390664	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	23933819, 23933820, 26220384, 28182669		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	10506512, 17234586, 20384727, 20890276, 21883175, 23933818, 24125812, 25596506, 25904555, 26022171, 27839871, 28007608, 28109652, 28154472, 28182669, 28242877, 28611597, 28936771, 29056244, 29339791, 29644724, 30146685, 30544257, 31149903, 31158310		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	20384727, 21883175, 24372385, 24504326, 27839871, 28126851, 28182669, 28242877, 28936771, 29056246, 29261713, 32036246, 34726335, 35228668, 37319252, 37390664, 37803141, 38307912, 40149474	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CTD_human_DG	20890276, 23933818		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	22738016, 24372385, 28936771, 29358611, 29789371	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	20890276, 23933818		★☆☆☆☆ Found in Text Mining only
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION	Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation	UNIPROT_DG	20890276, 23033978, 23933818, 23933819, 23933820, 24504326, 24903190, 27839871, 27864847, 28095420, 28126851, 28182669		★☆☆☆☆ Found in Text Mining only
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION	Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation	GENOMICS_ENGLAND_DG	23933818		★☆☆☆☆ Found in Text Mining only
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION	Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	26220384		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	22738016, 28936771, 29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Rolandic	Epilepsy	CTD_human_DG	23933819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Rolandic	Epilepsy	ORPHANET_DG	23933819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	10482265, 26220384, 27731509		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30604514		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	37867425	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	40233852	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	22450047		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	29056244		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	10961623	Associate	★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	30132892		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	11355310		★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24903190, 29644724		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hemifacial seizures	Hemifacial seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15742215, 17018562, 17569088, 28469074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	LHGDN	15742215, 17018562, 17569088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington disease	Pubtator	17018562, 26148071, 36902304	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	30885791		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	35260864	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	26220384		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27988431, 31498792		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	25497044		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20384727, 27839871, 28182669, 29024713		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	20384727, 22833210, 27839871, 28182669, 38307912	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30854008		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29021742, 29101031, 29339791		★☆☆☆☆ Found in Text Mining only
Landau-Kleffner Syndrome	Landau-Kleffner Syndrome	ORPHANET_DG	23933818, 23933819, 23933820		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Landau-Kleffner Syndrome	Landau-Kleffner Syndrome	BEFREE	23933820, 26806548, 28182669, 29056244		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Landau-Kleffner Syndrome	Landau-Kleffner Syndrome	CTD_human_DG	23933820		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Landau-Kleffner syndrome	Landau-Kleffner Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Landau-Kleffner Syndrome	Landau-Kleffner Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Language Development Disorders	Language Development Disorders	CTD_human_DG	23933820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language Disorders	BEFREE	28242877		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	28242877, 28440294	Associate	★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukomalacia Periventricular	Periventricular leukomalacia	Pubtator	24046081	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19736238		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32014051	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	31498792		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	31498792		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26797520, 27988431, 28154472, 29161964, 29474315, 31498792		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	31498792		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	17299517, 21635931, 25571874		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	10961623, 24613745	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17922030		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	31043756		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	31043756		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	21499247		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Melanoma	Pubtator	21499247, 24739903, 28356599, 28522871, 32241263	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	BEFREE	24739903, 27659111, 28986867		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mental Depression	Mental Depression	PSYGENET_DG	16482087, 19605640, 19834457, 23557693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	19834457, 29704590, 30296532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	21507155, 28694195		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	29024713		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked, Syndromic, Christianson Type	Mental retardation	BEFREE	30126759		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28222314		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	12809987, 15054476, 27988431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	12809987, 15054476, 23557693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	23226551	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	29644724		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35008743	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	35773312	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26681223		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26681223	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11355310, 17922030, 24739903, 28986867		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31037756		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35110392	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	23933818, 29644724, 30544257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropsychiatric Systemic Lupus Erythematosus	Neuropsychiatric Systemic Lupus Erythematosus	BEFREE	28154472, 29073350		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	25224260, 26211447		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35059043	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	29021742		★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	32771066	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21876681, 22561640, 24915238, 28320167, 28823933, 29318639, 30927362		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21876681, 24915238, 28320167, 29318639	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31302238		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30481555		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28791385		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	25224260, 26211447		★☆☆☆☆ Found in Text Mining only
Rolandic epilepsy	Rolandic Epilepsy	Orphanet			★☆☆☆☆ Found in Text Mining only
Rolandic epilepsy-speech dyspraxia syndrome	Rolandic Epilepsy-Speech Dyspraxia Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12724619, 12809987, 15054476, 15237077, 15774266, 16476413, 16762023, 17011703, 17982252, 18033238, 18534564, 18585682, 19917116, 21919190, 22833210, 25224260, 25958346, 27021555, 28222314, 28314129, 29024713, 29958946, 31746486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12724619, 15774266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18585682, 19500946, 21919190, 22833210, 25958346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18585682	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22833210, 35396579, 38307912, 8613785	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	24903190, 28182669, 40149474	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29176858		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CTD_human_DG	23933820		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	23933820		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	CTD_human_DG	23933820		★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	BEFREE	10482265		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	18216203		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	22738016, 27731509, 28439226		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	24613745	Associate	★☆☆☆☆ Found in Text Mining only
Stereotypical hand wringing	Stereotypy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35964359	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	40149474	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	25497044		★☆☆☆☆ Found in Text Mining only