GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B)

Gene

• Entrez ID: 2904
• Gene name: Glutamate ionotropic receptor NMDA type subunit 2B
• Gene symbol: GRIN2B
• Synonyms (NCBI Gene): DEE27, EIEE27, GluN2B, MRD6, NMDAR2B, NR2B, NR3, hNR3
• Chromosome: 12
• Chromosome location: 12p13.1
• Summary: This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138771137	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs141109968	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs199526748	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs199707487	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs200608452	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs201439880	G>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs201672517	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs202223470	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs374746622	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs375217280	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906636	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs398122823	->G	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398122824	T>C	Pathogenic	Splice acceptor variant
rs796052578	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797044849	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs864309560	G>T	Pathogenic	Missense variant, coding sequence variant
rs869312669	T>G	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs876661055	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs876661064	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs876661076	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs876661102	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs876661167	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs876661219	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs879253931	G>A	Pathogenic	Coding sequence variant, stop gained
rs879254013	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886041095	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1057518520	->GAGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518800	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518988	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1057519611	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant
rs1057519612	T>C	Pathogenic	Splice acceptor variant
rs1060499526	GT>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1064794979	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064796752	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307547	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1168374610	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555101670	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555102552	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555103150	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1555103159	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555103646	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555103652	A>C	Likely-pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs1555103971	C>T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs1555103995	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555133006	CA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555133077	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1565453023	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565457924	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1591605498	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1591605549	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591606580	A>T	Pathogenic	Stop gained, coding sequence variant
rs1591609065	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591609136	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591611001	A>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1591612223	T>C	Pathogenic	Intron variant
rs1591612317	T>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1591612370	->GGTGAGAAGTCATTAGGTCTCTGGAACTGG	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT657587	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657585	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT657584	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT668055	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT668054	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT668053	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668052	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT657583	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT657582	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT657591	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT657590	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT657589	hsa-miR-4297	HITS-CLIP	23824327
MIRT657588	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT657587	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657586	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT657585	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT657584	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT657583	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT657582	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT636493	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT636492	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT636491	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT636490	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT636489	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT523391	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT523390	hsa-miR-567	PAR-CLIP	21572407
MIRT523389	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT523388	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT523387	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT523386	hsa-miR-3924	PAR-CLIP	21572407
MIRT523385	hsa-miR-297	PAR-CLIP	21572407
MIRT523384	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT537030	hsa-miR-1179	PAR-CLIP	22012620
MIRT537029	hsa-miR-6858-3p	PAR-CLIP	22012620
MIRT537028	hsa-miR-4267	PAR-CLIP	22012620
MIRT537027	hsa-miR-7110-3p	PAR-CLIP	22012620
MIRT537026	hsa-miR-6817-3p	PAR-CLIP	22012620
MIRT537025	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT537024	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT537023	hsa-miR-6873-3p	PAR-CLIP	22012620
MIRT537022	hsa-miR-4303	PAR-CLIP	22012620
MIRT537021	hsa-miR-6807-5p	PAR-CLIP	22012620
MIRT537019	hsa-miR-4768-5p	PAR-CLIP	22012620
MIRT537020	hsa-miR-6833-3p	PAR-CLIP	22012620
MIRT523392	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT523391	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT523390	hsa-miR-567	PAR-CLIP	23446348
MIRT523389	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT523388	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT523387	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT523386	hsa-miR-3924	PAR-CLIP	23446348
MIRT523385	hsa-miR-297	PAR-CLIP	23446348
MIRT523384	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT732627	hsa-miR-223-3p	RNA-seq	31775160
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT657587	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657585	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT657584	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT668055	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT668054	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT668053	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668052	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT657583	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT657582	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT657591	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT657590	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT657589	hsa-miR-4297	HITS-CLIP	23824327
MIRT657588	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT657587	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657586	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT657585	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT657584	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT657583	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT657582	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT636493	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT636492	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT636491	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT636490	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT636489	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT523391	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT523390	hsa-miR-567	PAR-CLIP	21572407
MIRT523389	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT523388	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT523387	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT523386	hsa-miR-3924	PAR-CLIP	21572407
MIRT523385	hsa-miR-297	PAR-CLIP	21572407
MIRT523384	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT537030	hsa-miR-1179	PAR-CLIP	22012620
MIRT537029	hsa-miR-6858-3p	PAR-CLIP	22012620
MIRT537028	hsa-miR-4267	PAR-CLIP	22012620
MIRT537027	hsa-miR-7110-3p	PAR-CLIP	22012620
MIRT537026	hsa-miR-6817-3p	PAR-CLIP	22012620
MIRT537025	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT537024	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT537023	hsa-miR-6873-3p	PAR-CLIP	22012620
MIRT537022	hsa-miR-4303	PAR-CLIP	22012620
MIRT537021	hsa-miR-6807-5p	PAR-CLIP	22012620
MIRT537019	hsa-miR-4768-5p	PAR-CLIP	22012620
MIRT537020	hsa-miR-6833-3p	PAR-CLIP	22012620
MIRT523392	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT523391	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT523390	hsa-miR-567	PAR-CLIP	23446348
MIRT523389	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT523388	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT523387	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT523386	hsa-miR-3924	PAR-CLIP	23446348
MIRT523385	hsa-miR-297	PAR-CLIP	23446348
MIRT523384	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT2006802	hsa-miR-3120-5p	CLIP-seq
MIRT2006803	hsa-miR-3187-3p	CLIP-seq
MIRT2006804	hsa-miR-374c	CLIP-seq
MIRT2006805	hsa-miR-4529-5p	CLIP-seq
MIRT2006806	hsa-miR-4742-3p	CLIP-seq
MIRT2006807	hsa-miR-4802-3p	CLIP-seq
MIRT2006808	hsa-miR-655	CLIP-seq
MIRT2388774	hsa-miR-331-3p	CLIP-seq
MIRT2388775	hsa-miR-370	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HDAC1	Activation	19081374

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	NAS	26719327
GO:0004972	Function	NMDA glutamate receptor activity	IBA
GO:0004972	Function	NMDA glutamate receptor activity	IDA	24272827, 26919761, 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:0005515	Function	Protein binding	IPI	11937501, 17047094, 17997397, 19453375, 20018661, 24550280, 28130356, 30126976, 34321660, 35914814
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	17526495
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26875626, 26919761, 27839871
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	NAS	34321660
GO:0005886	Component	Plasma membrane	TAS	8768735
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	8768735
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	10485705
GO:0007420	Process	Brain development	NAS	17526495
GO:0007611	Process	Learning or memory	ISS
GO:0007611	Process	Learning or memory	TAS	10485705
GO:0008270	Function	Zinc ion binding	ISS
GO:0009986	Component	Cell surface	ISS	17526495
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016594	Function	Glycine binding	IDA	17047094
GO:0016595	Function	Glutamate binding	ISS
GO:0017146	Component	NMDA selective glutamate receptor complex	IBA
GO:0017146	Component	NMDA selective glutamate receptor complex	IDA	10480938, 17047094, 26875626, 26919761
GO:0017146	Component	NMDA selective glutamate receptor complex	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	IPI	34321660
GO:0017146	Component	NMDA selective glutamate receptor complex	ISS
GO:0017146	Component	NMDA selective glutamate receptor complex	TAS	17526495
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IDA	26875626
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IMP	27839871
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	ISS
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	NAS	34321660
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	ISS
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:0045211	Component	Postsynaptic membrane	TAS	24607229
GO:0045471	Process	Response to ethanol	IDA	18445116
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
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:0051290	Process	Protein heterotetramerization	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	NAS	15003177
GO:0060079	Process	Excitatory postsynaptic potential	IBA
GO:0060291	Process	Long-term synaptic potentiation	IBA
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	24272827, 38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	ISS
GO:0098655	Process	Monoatomic cation transmembrane transport	NAS	34321660
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098976	Process	Excitatory chemical synaptic transmission	NAS	17526495
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	19666514
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	19666514
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	19666514
GO:1902951	Process	Negative regulation of dendritic spine maintenance	ISS
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	ISS
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	NAS	34321660
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	NAS	15003177

Other IDs

• MIM: 138252
• HGNC: 4586
• e!Ensembl: ENSG00000273079

Protein

• UniProt ID: Q13224
• Protein name: Glutamate receptor ionotropic, NMDA 2B (GluN2B) (Glutamate [NMDA] receptor subunit epsilon-2) (N-methyl D-aspartate receptor subtype 2B) (NMDAR2B) (NR2B) (N-methyl-D-aspartate receptor subunit 3) (NR3) (hNR3)
• 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:24272827, PubMed:24863970, PubMed:26875626,
• PDB: 5EWJ, 5EWL, 5EWM, 7EU8, 7KL0, 7KL1, 7KL2, 7UIS, 7UJP, 7UJQ, 7UJR, 7UJS, 7UJT, 8VUU, 8VUV, 9D37, 9D38, 9D39, 9D3A, 9D3B, 9D3C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	60 → 371	Receptor family ligand binding region	Family
  PF10613	Lig_chan-Glu_bd	404 → 542	Ligated ion channel L-glutamate- and glycine-binding site	Domain
  PF00060	Lig_chan	555 → 829	Ligand-gated ion channel	Family
  PF10565	NMDAR2_C	840 → 1484	N-methyl D-aspartate receptor 2B3 C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower expression in the basal ganglia. {ECO:0000269|PubMed:9547169}.
• Sequence:

  MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFH
  HLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTL
  TPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQ
  DFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYI
  FEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAII
  TTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHP
  KLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVE
  SVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYL
  VTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDFSVPFIETGISVMVSR
  SNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSF
  TIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYV
  DQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLS
  LKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGSGKVFASTGYGIAIQKDSGWKRQVDLAI
  LQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYMLGAAMALSLITFICEH
  LFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILR
  LLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFS
  DYISEVERTFGNLQLKDSNVYQDHYHHHHRPHSIGSASSIDGLYDCDNPPFTTQSRSISK
  KPLDIGLPSSKHSQLSDLYGKFSFKSDRYSGHDDLIRSDVSDISTHTVTYGNIEGNAAKR
  RKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTK
  ENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHIKHGTGDKHGVVSGVPAPWEKN
  LTNVEWEDRSGGNFCRSCPSKLHNYSTTVTGQNSGRQACIRCEACKKAGNLYDISEDNSL
  QELDQPAAPVAVTSNASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPR
  SVSLKDKGRFMDGSPYAHMFEMSAGESTFANNKSSVPTAGHHHHNNPGGGYMLSKSLYPD
  RVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKARPDFRALVTNKPVVSALHGAVPA
  RFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV

• Sequence length: 1484

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
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Nicotine addiction
Alcoholism
Systemic lupus erythematosus

Reactome:

EPHB-mediated forward signaling
Unblocking of NMDA receptors, glutamate binding and activation
RAF/MAP kinase cascade
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
Astigmatism	Likely pathogenic; Pathogenic	rs876661151	RCV000415209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ataxia	Likely pathogenic; Pathogenic	rs876661219, rs1057518988	RCV000415402 RCV000414945	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical behavior	Likely pathogenic	rs1555103646	RCV000626715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic	rs2497984939	RCV003127386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Likely pathogenic	rs1555103646	RCV000626715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant non-syndromic intellectual disability	Likely pathogenic; Pathogenic	rs1555112396	RCV002287490	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2136409777, rs1555103986, rs796052571, rs1555110843, rs797044849, rs869312868, rs876661055, rs879253931, rs886041295, rs886043237, rs1057519004, rs774592932, rs1064794979, rs1064796752, rs1085307547, rs1131691702, rs1555103971, rs1555102536, rs1555133077, rs1591612317, rs1949369220, rs1948569124, rs1948651947, rs1948686092, rs1949419811, rs1949425904, rs1555112396	RCV006249813 RCV001265478 RCV001265244 RCV001265249 RCV001265246 RCV001265248 RCV001265388 RCV001265385 RCV001265472 RCV001265251 RCV001265247 RCV001265387 RCV001265381 RCV001265476 RCV001265378 RCV001265479 RCV001265245 RCV001265242 RCV001265383 RCV001265384 RCV001265471 RCV001265474 RCV001265475 RCV001265389 RCV001265386 RCV001265473 RCV001265379 RCV001265243 RCV001265382	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Delayed speech and language development	Likely pathogenic; Pathogenic	rs876661151	RCV000415209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 27	Pathogenic; Likely pathogenic	rs2136470302, rs771157135, rs2136413399, rs1949320223, rs2136403635, rs2136415648, rs2136470509, rs2136629609, rs2136415913, rs2136479365, rs1555103172, rs1555103652, rs2497597907, rs672601376, rs672601377, rs672601378, rs796052571, rs1555110843, rs797044849, rs879254016, rs1949419853, rs2497597935, rs1949419811, rs2497684798, rs869312868, rs876661167, rs876661055, rs876661151, rs876661041, rs2497471442, rs879253931, rs886041095, rs886041295, rs2497482397, rs2497485773, rs2497476034, rs2497597872, rs2497481899, rs2497597954, rs1949369220, rs1555112064, rs2497476072, rs2497602512, rs1057518988, rs1057519004, rs774592932, rs1060499659, rs1135401799, rs1555103971, rs397514556, rs1555112186, rs1057518700, rs1565455778, rs1591612279, rs1591643530, rs1591609136, rs1168374610, rs1591638805, rs748075089, rs1949321492, rs1948652423, rs867553974, rs1948652117, rs1948653017, rs1949368959, rs1555102548, rs1555103165, rs2497598118	RCV002568012 RCV001533146 RCV001706824 RCV002283556 RCV001923890 RCV001935094 RCV002008382 RCV001977759 RCV001966508 RCV001958738 RCV001910154 RCV003094012 RCV002287579 RCV000149503 RCV000149504 RCV005411355 RCV006262015 RCV000495871 RCV001852460 RCV000464558 RCV002877177 RCV003032810 RCV003043710 RCV003032709 RCV003040838 RCV001004753 RCV000812933 RCV002519747 RCV005222844 RCV005222843 RCV003154636 RCV000688926 RCV002518437 RCV002518798 RCV000655320 RCV003314357 RCV003777305 RCV003322731 RCV003333646 RCV003803541 RCV003803717 RCV003803941 RCV003803984 RCV003801262 RCV003809032 RCV000502504 RCV001376742 RCV003766167 RCV001823138 RCV000449489 RCV000496146 RCV000689699 RCV002466416 RCV000655318 RCV000704324 RCV000696677 RCV000760198 RCV000813802 RCV000821057 RCV000985085 RCV001027688 RCV001028036 RCV001042521 RCV001046343 RCV001862473 RCV001809986 RCV001253690 RCV001175144 RCV001214413 RCV001229836 RCV003770348 RCV001270427	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental delay	Likely pathogenic	rs1057518800	RCV000414776	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic; Pathogenic	rs869312868, rs866636096, rs2497590335	RCV003126605 RCV003127356 RCV003127366	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs1057518988	RCV000414945	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs2497482289	RCV001255384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GRIN2B-related disorder	Likely pathogenic; Pathogenic	rs797044849, rs2497471018, rs1085307547, rs1591612317, rs2497598118	RCV004529382 RCV004527861 RCV003233648 RCV004723112 RCV005250123 RCV004538546	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
intellectual deficiency	Likely pathogenic; Pathogenic	rs876661219, rs1057518988, rs1057519004	RCV000415402 RCV000414945 RCV000414971	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs672601378, rs869312868, rs876661055, rs1057518800, rs876661151, rs774592932, rs387906636, rs1085307547, rs398122823, rs1555103971, rs1555103646, rs1591612223, rs2497598118, rs1191352284, rs1950069464	RCV001260644 RCV004017491 RCV001260713 RCV000414776 RCV005625583 RCV001260712 RCV001260642 RCV001260640 RCV001260648 RCV001260643 RCV000626715 RCV000851493 RCV001260647 RCV001260645 RCV001260641	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant 6	Pathogenic; Likely pathogenic	rs2136470302, rs771157135, rs1949425904, rs2136479389, rs2136403635, rs2136415648, rs2136470509, rs2136629609, rs2136415913, rs2136479365, rs1555103172, rs527236034, rs1949368766, rs2136409732, rs2136409777, rs1555103652, rs2136409921, rs1948686521, rs2136415828, rs2136470472, rs2136479850, rs1407009840, rs2136415741, rs2136405082, rs2497582852, rs672601376, rs672601377, rs672601378, rs2497597834, rs2497583126, rs1555112356, rs2497466492, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs797044849, rs797044930, rs879254016, rs864309560, rs1949419853, rs2497597935, rs1949419811, rs2497684798, rs869312868, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs2497475506, rs2497471442, rs879253931, rs2497599320, rs886041095, rs886041295, rs2497475889, rs992479287, rs1949427787, rs2497485773, rs2497684685, rs1555112376, rs2497481899, rs2497597954, rs1949369220, rs1555112064, rs2497476072, rs2497602512, rs2497486003, rs2497600093, rs2497470975, rs2497466869, rs1201643405, rs2497778295, rs2497468901, rs1057518988, rs1057519004, rs1057518700, rs774592932, rs1060499659, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs1064794979, rs1085307547, rs398122823, rs1135401799, rs1555103971, rs397514555, rs398122824, rs398122825, rs397514556, rs1555111511, rs1555112186, rs1565455778, rs1591612279, rs1591643530, rs1591609136, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs1168374610, rs748075089, rs1949321492, rs1948652423, rs867553974, rs1948651813, rs1948652117, rs1948652687, rs1555103959, rs1948713322, rs1949319877, rs1949320223, rs1949320812, rs1949320966, rs1949321461, rs1949321538, rs1949420397, rs1949421055, rs1555119408, rs1950068369, rs1863527228, rs1555133111, rs1555133154, rs1948653017, rs1949368959, rs1555102548, rs1948581537, rs1555103165, rs2497598118, rs1555112396, rs747172511	RCV001788528 RCV001533146 RCV001706931 RCV001730125 RCV001923890 RCV001935094 RCV002008382 RCV001977759 RCV001966508 RCV001958738 RCV001910154 RCV000132723 RCV002227007 RCV002249065 RCV002249068 RCV002249069 RCV002250033 RCV002250034 RCV002250035 RCV002250036 RCV002250037 RCV002251219 RCV002266801 RCV002272721 RCV002288271 RCV001172367 RCV001172364 RCV000149505 RCV002306279 RCV004784063 RCV002466330 RCV002466794 RCV005869849 RCV001172322 RCV001172372 RCV000495871 RCV001172363 RCV000464558 RCV001172373 RCV002877177 RCV001172328 RCV003032810 RCV003043710 RCV003032709 RCV003040838 RCV000210391 RCV000812933 RCV001172337 RCV001172330 RCV000625193 RCV001172324 RCV001172326 RCV001172320 RCV001172375 RCV003152882 RCV003154636 RCV000688926 RCV001172331 RCV003224989 RCV000258920 RCV000655320 RCV003234835 RCV003314211 RCV003314235 RCV003777305 RCV005249512 RCV003405214 RCV003803541 RCV003803717 RCV003803941 RCV003803984 RCV003801262 RCV003809032 RCV003983753 RCV003985203 RCV003990351 RCV003989470 RCV003991353 RCV004555306 RCV004586469 RCV000696914 RCV001172325 RCV000988791 RCV000414856 RCV001252256 RCV002522738 RCV000022580 RCV000022581 RCV000022582 RCV000022583 RCV001172340 RCV002063832 RCV000032861 RCV001172356 RCV000578652 RCV000032862 RCV000032863 RCV000032864 RCV000032865 RCV000680001 RCV000655318 RCV000704324 RCV000696677 RCV000760198 RCV000813802 RCV000821057 RCV001172329 RCV000988787 RCV000988788 RCV000988789 RCV000988790 RCV000988792 RCV001027688 RCV001042521 RCV001046343 RCV001072144 RCV001172349 RCV001172339 RCV001172336 RCV001172327 RCV001172357 RCV001172323 RCV001172321 RCV001172376 RCV001172374 RCV001172371 RCV001172370 RCV001172369 RCV001172366 RCV001172365 RCV001172362 RCV001172354 RCV001172353 RCV001172352 RCV001172350 RCV001172348 RCV001172355 RCV001172346 RCV001172345 RCV001172344 RCV001172343 RCV003883167 RCV001192666 RCV001229836 RCV001252255 RCV001258335 RCV001270427 RCV005622092 RCV001283816	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joint hypermobility	Likely pathogenic; Pathogenic	rs876661151	RCV000415209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long fingers	Likely pathogenic; Pathogenic	rs876661151	RCV000415209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor delay	Likely pathogenic; Pathogenic	rs876661151	RCV000415209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2497684685	RCV003389203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs886041295	RCV005895475	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs1555103646	RCV000626715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs1555119408	RCV005908884	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral palsy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CRANIOSYNOSTOSIS	—	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 27	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
developmental delay with intractable seizures	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRIN2B-related complex neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability, Dominant	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Landau-Kleffner syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal dystonia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West syndrome	not provided	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	BEFREE	29565039		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30786804		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15287897	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	20197096, 20882066, 22800732, 33522999, 35246269, 36006974, 37930868, 39210294	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amnesia	Amnesia	BEFREE	25152202		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30016667		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	24863970	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	16157352		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	29921740	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31125757		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30786804		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	29864525	Inhibit	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	17010153, 23718928, 34440367, 34923109, 37578679, 37667328	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	17010153, 23295062, 27624150, 28258362		★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	17010153, 34440367	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21572417, 22495309, 22833210, 23160955, 27616045, 32918531, 34615535, 34726335, 37031308, 37414777	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorder	Autism	Pubtator	32193494	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	21572417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22326929, 22833210, 23918416, 24126926, 27616045, 29847800, 31133774, 31548203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	23934111		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25656819, 28283559, 29511171		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25656819, 32918531	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Awakening Epilepsy	Epilepsy	CTD_human_DG	16407536, 29942082		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	35393335	Associate	★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	31419724		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15952869, 16549338, 17299517, 18007143, 19005876, 20537720, 24490167, 26563126, 31775160		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	16380905, 18007143, 24490167	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	16549338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	18007143, 19005876, 20537720, 20957330, 24490167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	25014031, 34212862	Associate	★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	25434386		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22037257	Associate	★☆☆☆☆ Found in Text Mining only
Brunner Syndrome	Brunner syndrome	Pubtator	34923109	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23462807	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21639937	Associate	★☆☆☆☆ Found in Text Mining only
Catatonia	Catatonia	BEFREE	31358437		★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	35186144	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18688011, 23112146, 28456939, 29565039		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22446083	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19736238		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30698943		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21281445, 35843716	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29401517		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17922030		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35512400	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	15030493, 16957582		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	28663035, 30031924		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	25041634		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	39210294	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	12697294		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	19838302, 20357110, 21814183, 23082852, 24584520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	23082852, 28094500, 28439098, 28579944, 28614711, 29294341, 29305627, 29993042, 30356718, 30463177, 31488789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	29921740	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	27086544, 30168177, 34726335, 35393335, 35893069, 36450799, 36758276	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	27818011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental reading disorder	Developmental dyslexia	BEFREE	25426763		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30931101		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30931101		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33029194, 33827531	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuralgia	Diabetic Neuralgia	BEFREE	30604591, 30830585, 31743763		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	17010153, 23718928, 25896831	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	23232665, 27325396		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29059133, 30130562, 30142538, 30350722		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	19591125		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	28839234, 37667328, 40424442	Associate	★☆☆☆☆ Found in Text Mining only
Early onset schizophrenia	Schizophrenia	BEFREE	30785307		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28533163, 28734458, 31213567		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	27029629	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	24272827		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15030493, 27605359, 27839871, 28246062, 29344671		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	15030493, 27839871, 28273943, 28837158, 34247411, 34726335, 35393335, 35893069, 37385334	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CTD_human_DG	16407536, 29942082		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	20197096, 29864525	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	16407536, 29942082		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	20848605, 27731509		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23934111		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27605359		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27	Epileptic encephalopathy	UNIPROT_DG	24272827, 27839871, 27864847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27	Epileptic encephalopathy	CLINVAR_DG	27572814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27	Epileptic encephalopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27	Epileptic encephalopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	35879265	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	27240522		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	10961623	Associate	★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	26321256		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	25893192	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	25893192		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25434386, 30298963		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24272827		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Huntington Disease	Huntington disease	Pubtator	10217265, 26148071	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	BEFREE	11161468, 11906693, 15240759, 15336977, 15742215, 17569088, 18502655, 19279257, 19726651, 20399867, 22198502, 30107216, 30110236, 9100675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	LHGDN	15742215, 17569088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperkinesis	Hyperkinesia	Pubtator	23718928, 34440367	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	35246269	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	30543306	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	35186144	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30543306		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25316095, 25426763, 28553223, 28628228, 28716964, 28945221, 29401517, 29695955, 31535661		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	28533163		★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20890276, 22405089, 23718928, 23918416, 24272827, 27839871, 29937144		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	20890276		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	22833210, 27839871, 28228639, 29937144, 34247411, 36450799, 36758276, 37385334	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intestinal Diseases	Intestinal disease	Pubtator	32705857	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	34057756	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	27221284		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	32705857	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29101031		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora disease	Pubtator	34212862	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	29937144		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	29937144	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disorders	Learning Disorders	BEFREE	27818011		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19736238		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28339361		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Macular dystrophy corneal type 1	Macular dystrophy	Pubtator	35393335	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	21635931, 24114429, 29795762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	10961623, 24613745, 28377535, 35393335	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	LHGDN	15030493		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	29867362		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17620329		★☆☆☆☆ Found in Text Mining only
Meleda Disease	Meleda Disease	BEFREE	15212844		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	21281445	Associate	★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	30356718		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	20890276		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	19838302, 20357110, 21814183, 23082852, 24584520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	23082852, 28094500, 28439098, 28579944, 28614711, 29294341, 29305627, 29993042, 30356718, 30463177, 31488789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	21827795, 27453061, 30594698		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	31299220		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20890276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	35893069	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6	Mental retardation	UNIPROT_DG	20890276, 23033978, 23160955, 24863970, 25356899, 27839871, 28095420		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6	Mental retardation	GENOMICS_ENGLAND_DG	23934111		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6	Mental retardation	CLINVAR_DG	27572814		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	23160955	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28393079, 29859974		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	27781556, 31358437		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	32705857	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	23226551		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23840674		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35008743	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	BEFREE	28246062		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21639937		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26549202, 28749574, 29191857, 29254894, 29289890, 29937144, 31657559		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25893192, 28837158, 35110392	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28373010, 29029433, 29254894, 29289890, 30110236, 30698943, 30850991, 30881618, 31232189		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	22521361, 27086544, 27818011, 28837158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889, 29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropsychiatric Systemic Lupus Erythematosus	Neuropsychiatric Systemic Lupus Erythematosus	BEFREE	28339361, 29073350		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	23229837		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	35246269	Stimulate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21639937		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	26211447, 30785307, 31775160		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	30089263		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	BEFREE	31680595		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	15083261, 19324536, 22433450, 22578441, 27394963		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30031924	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	11956967, 19562769, 20438806, 22561640, 25896831, 26627941, 27325396, 27531695, 28823933, 28854243, 29059133, 30130562, 30881618		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25896831, 26627941, 36006974	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	27325396		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23226551		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31302238		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	23918416, 27616045		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	12697294		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	20890276		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	26211447, 30785307, 31775160		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30543306		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30543306	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	28041965		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	35393335	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10910800, 11317224, 11807413, 12476325, 12824739, 15054476, 15211626, 15841096, 16549338, 16762023, 17224684, 17669510, 18033238, 20347576, 21827795, 21919190, 22781170, 22833210, 23070074, 23660601, 26020650, 26257337, 26421900, 26876050, 27453061, 27616045, 27818011, 28283559, 28314129, 28628228, 29695955, 30664045, 30785307, 31775160		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	11807413, 12476325, 15211626, 15841096, 16549338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	18583979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	21281445, 22833210, 27616045, 36641432, 8613785	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	15030493, 23782156, 27839871	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29176858		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	24863970		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	35893069	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21639937		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16585162, 17620329, 18006766		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	17234586, 27731509, 30189229, 30639357, 30666488		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	24613745	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17620329		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17620329		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18158559	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29258835		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	35186144	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	24114429, 29795762		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	24272827, 28533163		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
West Syndrome	West Syndrome	ORPHANET_DG	24272827		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
West Syndrome	West Syndrome	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)