SLC2A1 (solute carrier family 2 member 1)

Gene

• Entrez ID: 6513
• Gene name: Solute carrier family 2 member 1
• Gene symbol: SLC2A1
• Synonyms (NCBI Gene): CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1, GLUT1DS, HTLVR, PED, SDCHCN
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs13306758	G>A,T	Likely-pathogenic, benign, likely-benign, risk-factor, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs34025424	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs55693364	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs75485205	G>A,T	Likely-benign, benign, pathogenic, benign-likely-benign	Stop gained, coding sequence variant, synonymous variant
rs75852730	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs76672402	G>A,C	Not-provided, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs78388808	G>A	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs80359812	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs80359814	C>T	Pathogenic	Missense variant, coding sequence variant
rs80359816	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80359818	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80359819	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs80359821	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs80359822	TT>AC	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs80359823	G>A	Pathogenic	Missense variant, coding sequence variant
rs80359825	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80359828	G>T	Pathogenic	Coding sequence variant, stop gained
rs80359829	T>A	Pathogenic	Coding sequence variant, stop gained
rs80359832	GGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs80359837	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs80359838	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs121909739	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909740	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs139412383	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs139492241	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Intron variant
rs139722450	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs140825318	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs141619735	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146879902	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147319894	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs150971143	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs201989024	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs202060209	G>A,T	Pathogenic, uncertain-significance, likely-pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs267607059	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs267607060	GA>AT	Pathogenic	Missense variant, coding sequence variant
rs267607061	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs369273744	A>G,T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs373084446	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs374080633	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs376653618	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs387907312	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907313	G>A	Pathogenic, risk-factor	Coding sequence variant, missense variant
rs397514564	C>G,T	Risk-factor	Coding sequence variant, missense variant
rs398123069	T>C	Risk-factor	Coding sequence variant, missense variant
rs398124230	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs531385270	G>-	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs587784390	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587784391	C>-	Pathogenic	Stop gained, coding sequence variant
rs587784393	CGTCAGCTTC>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs587784396	G>A	Pathogenic	Stop gained, coding sequence variant
rs587784397	G>A	Pathogenic	Stop gained, coding sequence variant
rs749426767	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs752143706	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs771386274	C>A,T	Likely-pathogenic	Intron variant
rs776095655	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs794727642	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794727870	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794729221	G>A	Pathogenic	Coding sequence variant, stop gained
rs796053247	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796053248	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs796053249	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796053251	T>C	Pathogenic	Missense variant, coding sequence variant
rs796053253	G>A	Pathogenic	Missense variant, coding sequence variant
rs796053254	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs796053255	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796053263	G>A	Pathogenic	Missense variant, coding sequence variant
rs796053264	A>C,G	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs796053265	G>-	Pathogenic	Intron variant
rs796053266	AAAGATGGCC>G	Pathogenic	Coding sequence variant, inframe deletion
rs796053267	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053268	TGCAGCACCACAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053269	ACC>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs796053270	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053271	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053272	T>C	Pathogenic	Splice acceptor variant
rs864309514	C>T	Pathogenic	Missense variant, coding sequence variant
rs864309522	TGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs869312673	C>G,T	Pathogenic, uncertain-significance	Splice acceptor variant
rs878853161	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039517	C>T	Pathogenic	Coding sequence variant, missense variant
rs886039737	ATGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041590	->G	Pathogenic	Frameshift variant, coding sequence variant
rs886041633	A>G	Pathogenic	Coding sequence variant, missense variant
rs886041981	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886044287	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517822	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057518821	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057518953	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057520545	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057521066	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057521632	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521967	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064795152	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064795363	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308009	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1181822928	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1259158687	C>A,T	Likely-pathogenic, pathogenic	Intron variant
rs1264369249	->CGGAAGC	Pathogenic	Coding sequence variant, frameshift variant
rs1345986424	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs1387203768	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1413339367	G>A	Pathogenic	Stop gained, coding sequence variant
rs1431778557	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1553155843	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1553155885	GCT>TCA	Pathogenic	Coding sequence variant, stop gained
rs1553155887	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553155900	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553155973	CAACCCGCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553155982	T>A	Pathogenic	Coding sequence variant, missense variant
rs1553155986	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1553156002	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553156047	AGACAGCTGCTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1553156051	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553156053	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553156069	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553156086	C>G	Pathogenic	Splice donor variant
rs1553156146	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553156154	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553156161	GC>AA	Likely-pathogenic	Coding sequence variant, missense variant
rs1553156199	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1557644984	A>G	Pathogenic	Coding sequence variant, missense variant
rs1557645002	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557645723	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1557646075	TCTCGGGGC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1557646673	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1557646893	->CC	Pathogenic	Splice acceptor variant, coding sequence variant
rs1570590528	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570590859	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570590905	->TCC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1570591031	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570591037	AGCTGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570592604	CTTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570592655	->AT	Pathogenic	Frameshift variant, coding sequence variant
rs1570592844	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570592933	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570593475	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570593487	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570593595	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570593621	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570593665	C>T	Likely-pathogenic	Splice acceptor variant
rs1570593820	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570593881	GTG>TT	Pathogenic	Frameshift variant, coding sequence variant
rs1570593893	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570600997	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1570601007	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570601051	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1570601060	->TGAGGAG	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045432	hsa-miR-149-5p	CLASH	23622248
MIRT044855	hsa-miR-320a	CLASH	23622248
MIRT042866	hsa-miR-324-3p	CLASH	23622248
MIRT041808	hsa-miR-484	CLASH	23622248
MIRT035848	hsa-miR-1262	CLASH	23622248
MIRT438642	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blot	23889809
MIRT699417	hsa-miR-22-3p	HITS-CLIP	23313552
MIRT699416	hsa-miR-3184-3p	HITS-CLIP	23313552
MIRT699415	hsa-miR-5586-5p	HITS-CLIP	23313552
MIRT699414	hsa-miR-4267	HITS-CLIP	23313552
MIRT699413	hsa-miR-4324	HITS-CLIP	23313552
MIRT699412	hsa-miR-544b	HITS-CLIP	23313552
MIRT699411	hsa-miR-1914-5p	HITS-CLIP	23313552
MIRT699410	hsa-miR-6870-3p	HITS-CLIP	23313552
MIRT380445	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT699409	hsa-miR-6761-5p	HITS-CLIP	23313552
MIRT699408	hsa-miR-5008-3p	HITS-CLIP	23313552
MIRT699407	hsa-miR-6737-3p	HITS-CLIP	23313552
MIRT699406	hsa-miR-7157-3p	HITS-CLIP	23313552
MIRT699405	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT699404	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT699403	hsa-miR-4268	HITS-CLIP	23313552
MIRT699402	hsa-miR-4448	HITS-CLIP	23313552
MIRT699401	hsa-miR-6882-3p	HITS-CLIP	23313552
MIRT699400	hsa-miR-1296-5p	HITS-CLIP	23313552
MIRT699399	hsa-miR-1200	HITS-CLIP	23313552
MIRT699398	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT699397	hsa-miR-6772-3p	HITS-CLIP	23313552
MIRT699396	hsa-miR-2909	HITS-CLIP	23313552
MIRT501137	hsa-miR-6504-5p	PAR-CLIP	24398324
MIRT501136	hsa-miR-3064-5p	PAR-CLIP	24398324
MIRT501135	hsa-miR-4323	PAR-CLIP	24398324
MIRT501134	hsa-miR-4747-3p	PAR-CLIP	24398324
MIRT501133	hsa-miR-4638-5p	PAR-CLIP	24398324
MIRT501132	hsa-miR-1225-3p	PAR-CLIP	24398324
MIRT501131	hsa-miR-3135b	PAR-CLIP	24398324
MIRT501129	hsa-miR-4434	PAR-CLIP	24398324
MIRT501130	hsa-miR-4516	PAR-CLIP	24398324
MIRT501128	hsa-miR-5703	PAR-CLIP	24398324
MIRT501127	hsa-miR-1538	PAR-CLIP	24398324
MIRT501126	hsa-miR-4745-3p	PAR-CLIP	24398324
MIRT501125	hsa-miR-3652	PAR-CLIP	24398324
MIRT501124	hsa-miR-4430	PAR-CLIP	24398324
MIRT501123	hsa-miR-4505	PAR-CLIP	24398324
MIRT501122	hsa-miR-5787	PAR-CLIP	24398324
MIRT501120	hsa-miR-4531	PAR-CLIP	24398324
MIRT501121	hsa-miR-6842-3p	PAR-CLIP	24398324
MIRT699417	hsa-miR-22-3p	qRT-PCR, Luciferase reporter assay, In situ hybridization, Western blot	25304371
MIRT699417	hsa-miR-22-3p	HITS-CLIP	23313552
MIRT699416	hsa-miR-3184-3p	HITS-CLIP	23313552
MIRT699415	hsa-miR-5586-5p	HITS-CLIP	23313552
MIRT699414	hsa-miR-4267	HITS-CLIP	23313552
MIRT699413	hsa-miR-4324	HITS-CLIP	23313552
MIRT699412	hsa-miR-544b	HITS-CLIP	23313552
MIRT699411	hsa-miR-1914-5p	HITS-CLIP	23313552
MIRT699410	hsa-miR-6870-3p	HITS-CLIP	23313552
MIRT380445	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT699409	hsa-miR-6761-5p	HITS-CLIP	23313552
MIRT699408	hsa-miR-5008-3p	HITS-CLIP	23313552
MIRT699407	hsa-miR-6737-3p	HITS-CLIP	23313552
MIRT699406	hsa-miR-7157-3p	HITS-CLIP	23313552
MIRT699405	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT699404	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT699403	hsa-miR-4268	HITS-CLIP	23313552
MIRT699402	hsa-miR-4448	HITS-CLIP	23313552
MIRT699401	hsa-miR-6882-3p	HITS-CLIP	23313552
MIRT699400	hsa-miR-1296-5p	HITS-CLIP	23313552
MIRT699399	hsa-miR-1200	HITS-CLIP	23313552
MIRT699398	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT699397	hsa-miR-6772-3p	HITS-CLIP	23313552
MIRT699396	hsa-miR-2909	HITS-CLIP	23313552
MIRT501137	hsa-miR-6504-5p	PAR-CLIP	24398324
MIRT501136	hsa-miR-3064-5p	PAR-CLIP	24398324
MIRT501135	hsa-miR-4323	PAR-CLIP	24398324
MIRT501134	hsa-miR-4747-3p	PAR-CLIP	24398324
MIRT501133	hsa-miR-4638-5p	PAR-CLIP	24398324
MIRT501132	hsa-miR-1225-3p	PAR-CLIP	24398324
MIRT501131	hsa-miR-3135b	PAR-CLIP	24398324
MIRT501129	hsa-miR-4434	PAR-CLIP	24398324
MIRT501130	hsa-miR-4516	PAR-CLIP	24398324
MIRT501128	hsa-miR-5703	PAR-CLIP	24398324
MIRT501127	hsa-miR-1538	PAR-CLIP	24398324
MIRT501126	hsa-miR-4745-3p	PAR-CLIP	24398324
MIRT501125	hsa-miR-3652	PAR-CLIP	24398324
MIRT501124	hsa-miR-4430	PAR-CLIP	24398324
MIRT501123	hsa-miR-4505	PAR-CLIP	24398324
MIRT501122	hsa-miR-5787	PAR-CLIP	24398324
MIRT501120	hsa-miR-4531	PAR-CLIP	24398324
MIRT501121	hsa-miR-6842-3p	PAR-CLIP	24398324
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT1358592	hsa-miR-1197	CLIP-seq
MIRT1358593	hsa-miR-1225-5p	CLIP-seq
MIRT1358594	hsa-miR-1273f	CLIP-seq
MIRT1358595	hsa-miR-1273g	CLIP-seq
MIRT1358596	hsa-miR-1284	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358598	hsa-miR-130a	CLIP-seq
MIRT1358599	hsa-miR-130b	CLIP-seq
MIRT1358600	hsa-miR-1343	CLIP-seq
MIRT1358601	hsa-miR-136	CLIP-seq
MIRT1358602	hsa-miR-140-5p	CLIP-seq
MIRT1358603	hsa-miR-148a	CLIP-seq
MIRT1358604	hsa-miR-148b	CLIP-seq
MIRT1358605	hsa-miR-152	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT1358607	hsa-miR-1972	CLIP-seq
MIRT1358608	hsa-miR-198	CLIP-seq
MIRT1358609	hsa-miR-19a	CLIP-seq
MIRT1358610	hsa-miR-19b	CLIP-seq
MIRT1358611	hsa-miR-301a	CLIP-seq
MIRT1358612	hsa-miR-301b	CLIP-seq
MIRT1358613	hsa-miR-3117-3p	CLIP-seq
MIRT1358614	hsa-miR-3120-5p	CLIP-seq
MIRT1358615	hsa-miR-3125	CLIP-seq
MIRT1358616	hsa-miR-3132	CLIP-seq
MIRT1358617	hsa-miR-3179	CLIP-seq
MIRT1358618	hsa-miR-3182	CLIP-seq
MIRT1358619	hsa-miR-3187-3p	CLIP-seq
MIRT1358620	hsa-miR-3202	CLIP-seq
MIRT1358621	hsa-miR-326	CLIP-seq
MIRT1358622	hsa-miR-328	CLIP-seq
MIRT1358623	hsa-miR-330-5p	CLIP-seq
MIRT1358624	hsa-miR-331-5p	CLIP-seq
MIRT1358625	hsa-miR-3591-5p	CLIP-seq
MIRT1358626	hsa-miR-3657	CLIP-seq
MIRT1358627	hsa-miR-3666	CLIP-seq
MIRT1358628	hsa-miR-3674	CLIP-seq
MIRT1358629	hsa-miR-376a	CLIP-seq
MIRT1358630	hsa-miR-376b	CLIP-seq
MIRT1358631	hsa-miR-3914	CLIP-seq
MIRT1358632	hsa-miR-3916	CLIP-seq
MIRT1358633	hsa-miR-3928	CLIP-seq
MIRT1358634	hsa-miR-410	CLIP-seq
MIRT1358635	hsa-miR-4294	CLIP-seq
MIRT1358636	hsa-miR-4295	CLIP-seq
MIRT1358637	hsa-miR-4428	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358639	hsa-miR-4436b-3p	CLIP-seq
MIRT1358640	hsa-miR-4468	CLIP-seq
MIRT1358641	hsa-miR-4476	CLIP-seq
MIRT1358642	hsa-miR-4481	CLIP-seq
MIRT1358643	hsa-miR-4519	CLIP-seq
MIRT1358644	hsa-miR-4529-5p	CLIP-seq
MIRT1358645	hsa-miR-4530	CLIP-seq
MIRT1358646	hsa-miR-454	CLIP-seq
MIRT1358647	hsa-miR-4645-5p	CLIP-seq
MIRT1358648	hsa-miR-4658	CLIP-seq
MIRT1358649	hsa-miR-4669	CLIP-seq
MIRT1358650	hsa-miR-4673	CLIP-seq
MIRT1358651	hsa-miR-4688	CLIP-seq
MIRT1358652	hsa-miR-4699-3p	CLIP-seq
MIRT1358653	hsa-miR-4703-3p	CLIP-seq
MIRT1358654	hsa-miR-4715-5p	CLIP-seq
MIRT1358655	hsa-miR-4716-5p	CLIP-seq
MIRT1358656	hsa-miR-4722-5p	CLIP-seq
MIRT1358657	hsa-miR-4731-3p	CLIP-seq
MIRT1358658	hsa-miR-4745-5p	CLIP-seq
MIRT1358659	hsa-miR-4747-5p	CLIP-seq
MIRT1358660	hsa-miR-4758-5p	CLIP-seq
MIRT1358661	hsa-miR-4775	CLIP-seq
MIRT1358662	hsa-miR-4778-3p	CLIP-seq
MIRT1358663	hsa-miR-4789-5p	CLIP-seq
MIRT1358664	hsa-miR-4797-5p	CLIP-seq
MIRT1358665	hsa-miR-4801	CLIP-seq
MIRT1358666	hsa-miR-483-3p	CLIP-seq
MIRT1358667	hsa-miR-518a-5p	CLIP-seq
MIRT1358668	hsa-miR-526b	CLIP-seq
MIRT1358669	hsa-miR-527	CLIP-seq
MIRT1358670	hsa-miR-555	CLIP-seq
MIRT1358671	hsa-miR-607	CLIP-seq
MIRT1358672	hsa-miR-648	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT1358674	hsa-miR-922	CLIP-seq
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT1358596	hsa-miR-1284	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358600	hsa-miR-1343	CLIP-seq
MIRT1358601	hsa-miR-136	CLIP-seq
MIRT2106214	hsa-miR-186	CLIP-seq
MIRT2106215	hsa-miR-188-3p	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT2106216	hsa-miR-3133	CLIP-seq
MIRT2106217	hsa-miR-3155	CLIP-seq
MIRT2106218	hsa-miR-3155b	CLIP-seq
MIRT2106219	hsa-miR-3174	CLIP-seq
MIRT1358619	hsa-miR-3187-3p	CLIP-seq
MIRT1358624	hsa-miR-331-5p	CLIP-seq
MIRT1358628	hsa-miR-3674	CLIP-seq
MIRT1358629	hsa-miR-376a	CLIP-seq
MIRT1358630	hsa-miR-376b	CLIP-seq
MIRT1358634	hsa-miR-410	CLIP-seq
MIRT1358635	hsa-miR-4294	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358639	hsa-miR-4436b-3p	CLIP-seq
MIRT1358640	hsa-miR-4468	CLIP-seq
MIRT1358643	hsa-miR-4519	CLIP-seq
MIRT1358644	hsa-miR-4529-5p	CLIP-seq
MIRT1358645	hsa-miR-4530	CLIP-seq
MIRT1358652	hsa-miR-4699-3p	CLIP-seq
MIRT1358653	hsa-miR-4703-3p	CLIP-seq
MIRT1358654	hsa-miR-4715-5p	CLIP-seq
MIRT1358655	hsa-miR-4716-5p	CLIP-seq
MIRT1358656	hsa-miR-4722-5p	CLIP-seq
MIRT1358657	hsa-miR-4731-3p	CLIP-seq
MIRT1358662	hsa-miR-4778-3p	CLIP-seq
MIRT1358663	hsa-miR-4789-5p	CLIP-seq
MIRT1358665	hsa-miR-4801	CLIP-seq
MIRT2106220	hsa-miR-510	CLIP-seq
MIRT1358668	hsa-miR-526b	CLIP-seq
MIRT2106221	hsa-miR-532-3p	CLIP-seq
MIRT2106222	hsa-miR-633	CLIP-seq
MIRT1358672	hsa-miR-648	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT1358674	hsa-miR-922	CLIP-seq
MIRT2106223	hsa-miR-942	CLIP-seq
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT2330519	hsa-miR-1208	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358600	hsa-miR-1343	CLIP-seq
MIRT2106215	hsa-miR-188-3p	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT1358607	hsa-miR-1972	CLIP-seq
MIRT2330520	hsa-miR-21	CLIP-seq
MIRT2330521	hsa-miR-299-3p	CLIP-seq
MIRT2106217	hsa-miR-3155	CLIP-seq
MIRT2106218	hsa-miR-3155b	CLIP-seq
MIRT2106219	hsa-miR-3174	CLIP-seq
MIRT2330522	hsa-miR-3185	CLIP-seq
MIRT1358619	hsa-miR-3187-3p	CLIP-seq
MIRT1358625	hsa-miR-3591-5p	CLIP-seq
MIRT1358628	hsa-miR-3674	CLIP-seq
MIRT1358629	hsa-miR-376a	CLIP-seq
MIRT1358630	hsa-miR-376b	CLIP-seq
MIRT2330523	hsa-miR-4265	CLIP-seq
MIRT2330524	hsa-miR-4269	CLIP-seq
MIRT2330525	hsa-miR-4296	CLIP-seq
MIRT2330526	hsa-miR-4322	CLIP-seq
MIRT2330527	hsa-miR-4417	CLIP-seq
MIRT2330528	hsa-miR-4420	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358640	hsa-miR-4468	CLIP-seq
MIRT2330529	hsa-miR-4474-5p	CLIP-seq
MIRT1358644	hsa-miR-4529-5p	CLIP-seq
MIRT1358645	hsa-miR-4530	CLIP-seq
MIRT1358647	hsa-miR-4645-5p	CLIP-seq
MIRT1358650	hsa-miR-4673	CLIP-seq
MIRT2330530	hsa-miR-4683	CLIP-seq
MIRT1358652	hsa-miR-4699-3p	CLIP-seq
MIRT2330531	hsa-miR-4701-3p	CLIP-seq
MIRT1358653	hsa-miR-4703-3p	CLIP-seq
MIRT1358654	hsa-miR-4715-5p	CLIP-seq
MIRT2330532	hsa-miR-4764-5p	CLIP-seq
MIRT2330533	hsa-miR-4786-3p	CLIP-seq
MIRT2106221	hsa-miR-532-3p	CLIP-seq
MIRT2330534	hsa-miR-590-5p	CLIP-seq
MIRT1358672	hsa-miR-648	CLIP-seq
MIRT2330535	hsa-miR-661	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT1358674	hsa-miR-922	CLIP-seq
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358600	hsa-miR-1343	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT1358628	hsa-miR-3674	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358642	hsa-miR-4481	CLIP-seq
MIRT1358653	hsa-miR-4703-3p	CLIP-seq
MIRT1358658	hsa-miR-4745-5p	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT1358596	hsa-miR-1284	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT1358608	hsa-miR-198	CLIP-seq
MIRT1358625	hsa-miR-3591-5p	CLIP-seq
MIRT1358634	hsa-miR-410	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358639	hsa-miR-4436b-3p	CLIP-seq
MIRT1358652	hsa-miR-4699-3p	CLIP-seq
MIRT1358654	hsa-miR-4715-5p	CLIP-seq
MIRT1358657	hsa-miR-4731-3p	CLIP-seq
MIRT2433231	hsa-miR-4742-3p	CLIP-seq
MIRT1358663	hsa-miR-4789-5p	CLIP-seq
MIRT1358665	hsa-miR-4801	CLIP-seq
MIRT2433232	hsa-miR-549	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT2433233	hsa-miR-889	CLIP-seq
MIRT2330531	hsa-miR-4701-3p	CLIP-seq
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT2624554	hsa-miR-1266	CLIP-seq
MIRT2624555	hsa-miR-1299	CLIP-seq
MIRT2624556	hsa-miR-150	CLIP-seq
MIRT2624557	hsa-miR-1825	CLIP-seq
MIRT2106214	hsa-miR-186	CLIP-seq
MIRT1358607	hsa-miR-1972	CLIP-seq
MIRT2624558	hsa-miR-199a-5p	CLIP-seq
MIRT2624559	hsa-miR-199b-5p	CLIP-seq
MIRT2106216	hsa-miR-3133	CLIP-seq
MIRT2624560	hsa-miR-3150a-3p	CLIP-seq
MIRT2624561	hsa-miR-3175	CLIP-seq
MIRT1358618	hsa-miR-3182	CLIP-seq
MIRT1358619	hsa-miR-3187-3p	CLIP-seq
MIRT1358622	hsa-miR-328	CLIP-seq
MIRT2624562	hsa-miR-3663-5p	CLIP-seq
MIRT2624563	hsa-miR-3664-3p	CLIP-seq
MIRT2624564	hsa-miR-378	CLIP-seq
MIRT2624565	hsa-miR-378b	CLIP-seq
MIRT2624566	hsa-miR-378c	CLIP-seq
MIRT2624567	hsa-miR-378d	CLIP-seq
MIRT2624568	hsa-miR-378e	CLIP-seq
MIRT2624569	hsa-miR-378f	CLIP-seq
MIRT2624570	hsa-miR-378h	CLIP-seq
MIRT2624571	hsa-miR-378i	CLIP-seq
MIRT2624572	hsa-miR-3913-3p	CLIP-seq
MIRT2624573	hsa-miR-3925-3p	CLIP-seq
MIRT2624574	hsa-miR-422a	CLIP-seq
MIRT2624575	hsa-miR-4279	CLIP-seq
MIRT2624576	hsa-miR-4317	CLIP-seq
MIRT1358642	hsa-miR-4481	CLIP-seq
MIRT2624577	hsa-miR-4518	CLIP-seq
MIRT1358644	hsa-miR-4529-5p	CLIP-seq
MIRT1358645	hsa-miR-4530	CLIP-seq
MIRT2624578	hsa-miR-4638-3p	CLIP-seq
MIRT1358647	hsa-miR-4645-5p	CLIP-seq
MIRT2624579	hsa-miR-4659a-3p	CLIP-seq
MIRT2624580	hsa-miR-4659b-3p	CLIP-seq
MIRT1358650	hsa-miR-4673	CLIP-seq
MIRT2330530	hsa-miR-4683	CLIP-seq
MIRT1358658	hsa-miR-4745-5p	CLIP-seq
MIRT2624581	hsa-miR-4782-5p	CLIP-seq
MIRT2624582	hsa-miR-4793-3p	CLIP-seq
MIRT2624583	hsa-miR-491-5p	CLIP-seq
MIRT2624584	hsa-miR-508-5p	CLIP-seq
MIRT2624585	hsa-miR-516b	CLIP-seq
MIRT2624586	hsa-miR-582-3p	CLIP-seq
MIRT1358674	hsa-miR-922	CLIP-seq
MIRT2624587	hsa-miR-939	CLIP-seq
MIRT2624555	hsa-miR-1299	CLIP-seq
MIRT2624560	hsa-miR-3150a-3p	CLIP-seq
MIRT2624561	hsa-miR-3175	CLIP-seq
MIRT1358618	hsa-miR-3182	CLIP-seq
MIRT2624564	hsa-miR-378	CLIP-seq
MIRT2624565	hsa-miR-378b	CLIP-seq
MIRT2624566	hsa-miR-378c	CLIP-seq
MIRT2624567	hsa-miR-378d	CLIP-seq
MIRT2624568	hsa-miR-378e	CLIP-seq
MIRT2624569	hsa-miR-378f	CLIP-seq
MIRT2624570	hsa-miR-378h	CLIP-seq
MIRT2624571	hsa-miR-378i	CLIP-seq
MIRT2624572	hsa-miR-3913-3p	CLIP-seq
MIRT2624574	hsa-miR-422a	CLIP-seq
MIRT2624576	hsa-miR-4317	CLIP-seq
MIRT1358642	hsa-miR-4481	CLIP-seq
MIRT2624578	hsa-miR-4638-3p	CLIP-seq
MIRT1358647	hsa-miR-4645-5p	CLIP-seq
MIRT2624579	hsa-miR-4659a-3p	CLIP-seq
MIRT2624580	hsa-miR-4659b-3p	CLIP-seq
MIRT1358650	hsa-miR-4673	CLIP-seq
MIRT2330530	hsa-miR-4683	CLIP-seq
MIRT1358658	hsa-miR-4745-5p	CLIP-seq
MIRT2624581	hsa-miR-4782-5p	CLIP-seq
MIRT2624583	hsa-miR-491-5p	CLIP-seq
MIRT2624585	hsa-miR-516b	CLIP-seq
MIRT2624587	hsa-miR-939	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATM	Repression	20676049
HDAC5	Activation	22991226
HIF1A	Activation	15525582
HIF1A	Unknown	16025159;17426252;17486380;18097583
TP53	Repression	22483234

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001666	Process	Response to hypoxia	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001939	Component	Female pronucleus	IEA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IMP	10227690
GO:0005515	Function	Protein binding	IPI	18347014, 23563491, 25910212, 25957687, 35810171
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	2211693, 18245775, 21791420, 23137377, 25982116, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	10227690
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0007417	Process	Central nervous system development	IMP	1714544, 10227690
GO:0007565	Process	Female pregnancy	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0015150	Function	Fucose transmembrane transporter activity	IEA
GO:0015756	Process	Fucose transmembrane transport	IEA
GO:0015911	Process	Long-chain fatty acid import across plasma membrane	IMP	10227690
GO:0016020	Component	Membrane	IDA	1714544, 10227690
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	RCA	10227690
GO:0016020	Component	Membrane	TAS	3028891, 9462754
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	18619525
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	31678436, 31791063
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS	18619525
GO:0019852	Process	L-ascorbic acid metabolic process	TAS
GO:0019900	Function	Kinase binding	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030018	Component	Z disc	IEA
GO:0030496	Component	Midbody	IDA	15166316
GO:0030864	Component	Cortical actin cytoskeleton	IDA	18347014
GO:0031982	Component	Vesicle	IEA
GO:0032868	Process	Response to insulin	IBA
GO:0032868	Process	Response to insulin	IEA
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	EXP	9228080, 10862609
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	IEA
GO:0042149	Process	Cellular response to glucose starvation	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042383	Component	Sarcolemma	ISS
GO:0042470	Component	Melanosome	IEA
GO:0042802	Function	Identical protein binding	IPI	1429721
GO:0042908	Process	Xenobiotic transport	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045202	Component	Synapse	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IDA	25957687
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0046323	Process	D-glucose import	IBA
GO:0046323	Process	D-glucose import	IEA
GO:0055056	Function	D-glucose transmembrane transporter activity	IBA
GO:0055056	Function	D-glucose transmembrane transporter activity	IDA	2211693, 18245775, 25982116, 27078104
GO:0055056	Function	D-glucose transmembrane transporter activity	IEA
GO:0055056	Function	D-glucose transmembrane transporter activity	IMP	1714544, 10227690, 21791420, 28993322
GO:0055056	Function	D-glucose transmembrane transporter activity	TAS
GO:0055085	Process	Transmembrane transport	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	18347014
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070837	Process	Dehydroascorbic acid transport	IBA
GO:0070837	Process	Dehydroascorbic acid transport	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071474	Process	Cellular hyperosmotic response	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098708	Process	D-glucose import across plasma membrane	IGI	23975336
GO:0098708	Process	D-glucose import across plasma membrane	IMP	1714544, 10227690, 28993322
GO:0098793	Component	Presynapse	IEA
GO:0150104	Process	Transport across blood-brain barrier	IGI	23975336
GO:0150104	Process	Transport across blood-brain barrier	IMP	1714544
GO:0150104	Process	Transport across blood-brain barrier	IMP	28993322
GO:0150104	Process	Transport across blood-brain barrier	NAS	10227690, 26590417, 30280653
GO:1904016	Process	Response to Thyroglobulin triiodothyronine	IEA
GO:1904659	Process	D-glucose transmembrane transport	IDA	1429721, 2211693, 18245775, 25982116, 27078104
GO:1904659	Process	D-glucose transmembrane transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	IMP	21791420, 23280796
GO:1990350	Component	Glucose transporter complex	IPI	1429721

Other IDs

• MIM: 138140
• HGNC: 11005
• e!Ensembl: ENSG00000117394

Protein

• UniProt ID: P11166
• Protein name: Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (HepG2 glucose transporter)
• Protein function: Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate s
• PDB: 4PYP, 5EQG, 5EQH, 5EQI, 6THA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00083	Sugar_tr	16 → 467	Sugar (and other) transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues. {ECO:0000269|PubMed:23219802}.
• Sequence:

  MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTT
  LTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFE
  MLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQVFGLDSIM
  GNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHD
  LQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEK
  AGVQQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQ
  LPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPRPAAIAVAGFSNWTSNFIVGM
  CFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPE
  ELFHPLGADSQV

• Sequence length: 492

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
Abnormality of metabolism/homeostasis	Pathogenic	rs1431778557	RCV001003569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Pathogenic	rs1057518821	RCV000415305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood onset GLUT1 deficiency syndrome 2	Likely pathogenic; Pathogenic	rs13306758, rs1643479461, rs2124449089, rs2124448826, rs11537641, rs2124447951, rs2124446500, rs2524992538, rs80359825, rs794729221, rs80359826, rs796053248, rs796053272, rs794727870, rs776095655, rs780519584, rs2524990045, rs80359816, rs2124448824, rs121909739, rs121909740, rs80359812, rs267607060, rs267607061, rs80359818, rs202060209, rs1057520545, rs2124448406, rs80359832, rs1553156047, rs1553155986, rs1557646867, rs1570590528, rs1570592604, rs80359824, rs1643457017, rs1643481831	RCV000762930 RCV005867010 RCV001449667 RCV001542520 RCV006257338 RCV001797559 RCV001822976 RCV004771524 RCV000763336 RCV001333547 RCV001004692 RCV000763337 RCV000850603 RCV000209836 RCV005256588 RCV003315192 RCV004720393 RCV002288508 RCV000017492 RCV000017493 RCV000017494 RCV000030921 RCV000017496 RCV000030922 RCV000030838 RCV000017499 RCV002468576 RCV000022575 RCV002470868 RCV000498692 RCV001814181 RCV000760180 RCV002501134 RCV001003340 RCV001542521 RCV001089897 RCV001249689 RCV001255171	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chromosome 17q23.1-q23.2 deletion syndrome	Likely pathogenic; Pathogenic	rs80359818	RCV004791223	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic	rs771386274	RCV005895439	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 1	Pathogenic	rs2524999421	RCV002284144	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic; Pathogenic	rs202060209	RCV001843456	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia 9	Likely pathogenic; Pathogenic	rs13306758, rs11537641, rs2124449015, rs2124445661, rs2124446305, rs2124446490, rs2124449287, rs2124449452, rs2124450950, rs2124461913, rs2124461926, rs587784390, rs80359825, rs796053263, rs80359826, rs796053254, rs796053248, rs796053272, rs2524984768, rs2524999434, rs121909739, rs80359818, rs387907312, rs1557646867, rs80359812, rs1643457017	RCV000762930 RCV006257338 RCV002246534 RCV002246711 RCV002246712 RCV002246713 RCV002246714 RCV002246715 RCV002246716 RCV002246717 RCV002246718 RCV005243132 RCV000763336 RCV003137767 RCV001249688 RCV002247611 RCV000763337 RCV000850603 RCV003128185 RCV003337741 RCV002288509 RCV000030839 RCV000030840 RCV000760180 RCV002501134 RCV001249689	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Encephalopathy due to GLUT1 deficiency	Likely pathogenic; Pathogenic	rs2124448063, rs754791604, rs13306758, rs2124450705, rs2124449299, rs2124449417, rs11537641, rs2124450697, rs112081052, rs2124445519, rs2124449015, rs2124450950, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs2124450819, rs1553156086, rs2524997294, rs2524992538, rs75485205, rs80359825, rs794729221, rs796053264, rs796053263, rs80359826, rs796053254, rs796053253, rs80359823, rs796053248, rs794727642, rs796053272, rs80359841, rs864309522, rs878853161, rs886039517, rs776095655, rs886041590, rs2524989875, rs2524992555, rs2524990045, rs1553157935, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs202060209, rs1057517822, rs1057518953, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs1553155986, rs1553156053, rs1553156051, rs387907312, rs387907313, rs1553156069, rs1553155973, rs1259158687, rs1413339367, rs753161833, rs1345986424, rs1557646673, rs1557646867, rs80359819, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1570590859, rs1570590905, rs1570592604, rs80359824, rs1159593580, rs1643457017, rs773339124, rs1643480923	RCV001647141 RCV001647242 RCV000762930 RCV001353343 RCV003446737 RCV003446735 RCV006257338 RCV005868221 RCV001775326 RCV001786326 RCV003446921 RCV003445154 RCV000147519 RCV000147535 RCV000147531 RCV000147518 RCV000147524 RCV002255241 RCV003322631 RCV005254047 RCV002468791 RCV003445177 RCV003445605 RCV000763336 RCV000184042 RCV003445662 RCV003445661 RCV000679880 RCV003445651 RCV001781556 RCV000193872 RCV000763337 RCV001253255 RCV000850603 RCV003445632 RCV003445691 RCV000224978 RCV001253348 RCV000678305 RCV003445826 RCV003340746 RCV003337726 RCV003387552 RCV003479918 RCV000017486 RCV000017487 RCV002271987 RCV000017490 RCV000017491 RCV003445076 RCV001253635 RCV000147534 RCV001291641 RCV000017498 RCV002243647 RCV003445919 RCV003445924 RCV003446013 RCV003445980 RCV003445994 RCV003446077 RCV000517267 RCV003446135 RCV002265788 RCV003446149 RCV003445090 RCV003445091 RCV000578223 RCV003446156 RCV000585705 RCV003446271 RCV003446273 RCV003446275 RCV003446274 RCV003446415 RCV000735239 RCV000760180 RCV003446425 RCV000785926 RCV002283514 RCV000986291 RCV000995645 RCV003446462 RCV000824820 RCV000986289 RCV000986290 RCV000986292 RCV000986293 RCV000995643 RCV000995644 RCV003446586 RCV003446616 RCV003446617 RCV001249689 RCV001253375 RCV001253108	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy	Pathogenic	rs80359826	RCV000415466	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy with myoclonic atonic seizures	Pathogenic	rs2524990003	RCV002284149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, idiopathic generalized, susceptibility to, 12	Likely pathogenic; Pathogenic	rs13306758, rs11537641, rs1553156086, rs80359825, rs796053248, rs796053272, rs2124446216, rs1057521066, rs387907313, rs1557646867, rs80359812	RCV000082868 RCV006257338 RCV002273876 RCV000763336 RCV000763337 RCV000850603 RCV003221773 RCV002274028 RCV000030841 RCV000760180 RCV002501134	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs1057518821, rs1570592604	RCV000415305 RCV001003570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLUT1 deficiency syndrome	Likely pathogenic; Pathogenic	rs2124449030, rs80359825, rs80359823, rs267607061, rs1345986424, rs1553157935, rs80359819	RCV002273212 RCV000500584 RCV002272166 RCV006249559 RCV000502046 RCV001249305 RCV000770978	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLUT1 deficiency syndrome 1, autosomal recessive	Likely pathogenic; Pathogenic	rs2124448063, rs754791604, rs13306758, rs2124446605, rs2124448423, rs2124447989, rs80359843, rs2124448851, rs2124448988, rs2124449099, rs2124449299, rs2124449417, rs1643479461, rs2124450132, rs2124450273, rs2124450420, rs2124445695, rs2124450060, rs2124446220, rs2124450697, rs2124446431, rs2124450179, rs80359819, rs2124448836, rs796053255, rs1643443798, rs2124448402, rs2124450939, rs2124448295, rs2124448369, rs2124445408, rs2124449259, rs2124446296, rs2124446209, rs2124450471, rs2124446266, rs2124478855, rs2124450794, rs1057518953, rs587784390, rs75485205, rs80359827, rs2524984541, rs2524989927, rs2524994322, rs2524999660, rs80359825, rs796053264, rs796053263, rs80359826, rs796053254, rs796053253, rs80359823, rs796053248, rs796053247, rs80359841, rs2524999400, rs2524984262, rs2524999574, rs2124450806, rs2524988926, rs113697235, rs2524990221, rs2524997975, rs1643441873, rs886039517, rs776095655, rs886041590, rs2524992555, rs2524998439, rs1057517822, rs2524984688, rs2524984967, rs2524993821, rs2524990249, rs2524992657, rs80359835, rs2524999169, rs2524992866, rs2124478725, rs2524991460, rs2524998256, rs2524997940, rs2524994181, rs1643435901, rs2524988522, rs1363752047, rs2524994412, rs2524997437, rs2524998969, rs80359816, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs202060209, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs1553155986, rs1553156053, rs1553156051, rs1553156199, rs387907312, rs387907313, rs1553157935, rs1259158687, rs1413339367, rs869312673, rs1553155887, rs753161833, rs1557644989, rs1557646893, rs1345986424, rs1570590834, rs1570591031, rs1570592813, rs1570592933, rs1570593449, rs1570593475, rs1570593621, rs80359812, rs1570601051, rs1570593665, rs1570592604, rs1643479604, rs1159593580, rs139722450, rs1643480228, rs1643470035, rs1643440876, rs1643480570, rs1643443081, rs1643459989, rs1643484447, rs1643807832	RCV001376893 RCV003517326 RCV000701550 RCV001379801 RCV001379976 RCV001381772 RCV001386517 RCV001382607 RCV001388896 RCV001385553 RCV001386229 RCV001381258 RCV001390268 RCV001389872 RCV001385177 RCV001380504 RCV005095137 RCV001987378 RCV001988848 RCV002027882 RCV002014835 RCV002037645 RCV001871273 RCV001920766 RCV001953263 RCV001893165 RCV001966816 RCV001949288 RCV002019171 RCV001933932 RCV001941855 RCV001939579 RCV001974826 RCV001951124 RCV001950465 RCV001946595 RCV001972535 RCV002010031 RCV001956965 RCV002024775 RCV005089715 RCV002516600 RCV002648144 RCV002664156 RCV002634287 RCV002634288 RCV002664157 RCV002648146 RCV001390266 RCV002517900 RCV000463311 RCV000461498 RCV003517145 RCV000458906 RCV001380032 RCV000546488 RCV001365001 RCV002514063 RCV002819269 RCV002839231 RCV002852534 RCV002852915 RCV002885151 RCV002938487 RCV003009255 RCV003045403 RCV003063972 RCV001390267 RCV000694332 RCV001855067 RCV003517485 RCV003517498 RCV003517892 RCV003517990 RCV003517980 RCV003517903 RCV003518178 RCV003518722 RCV003518725 RCV003518726 RCV003516703 RCV003517010 RCV003516871 RCV003516863 RCV003517688 RCV003631695 RCV003631584 RCV003631925 RCV003631998 RCV003632023 RCV003632149 RCV003632150 RCV003632051 RCV003632146 RCV003632203 RCV000017489 RCV001387741 RCV002513077 RCV000473987 RCV001851890 RCV000648074 RCV000546969 RCV000705009 RCV001850982 RCV000458446 RCV001865350 RCV001865327 RCV002524897 RCV001851153 RCV000792856 RCV001853647 RCV000559813 RCV000539168 RCV000814788 RCV001063268 RCV002529042 RCV001043469 RCV001389445 RCV000648082 RCV000648091 RCV000648089 RCV000648086 RCV000648085 RCV000701808 RCV000689962 RCV001855780 RCV001869075 RCV000808808 RCV000804759 RCV000821549 RCV000801605 RCV000799264 RCV000800135 RCV000805606 RCV000819798 RCV000820367 RCV000823207 RCV001049017 RCV001069131 RCV001862694 RCV001218801 RCV001214425 RCV001205552 RCV001227926 RCV001233741 RCV001240060 RCV001247122 RCV001246954 RCV001234994	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cryohydrocytosis with reduced stomatin	Likely pathogenic; Pathogenic	rs13306758, rs11537641, rs80359825, rs80359826, rs796053248, rs796053272, rs864309514, rs864309522, rs80359818, rs1557646867, rs80359812, rs1643457017	RCV000762930 RCV006257338 RCV000763336 RCV001249688 RCV000763337 RCV000850603 RCV000202596 RCV000202573 RCV000824987 RCV000760180 RCV002501134 RCV001249689	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
intellectual deficiency	Pathogenic	rs80359826	RCV000415466	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs794729221, rs80359823, rs794727642, rs202060209, rs1431778557, rs773339124, rs1643480923, rs1643481930	RCV000224228 RCV005625411 RCV001255335 RCV000850197 RCV000850196 RCV001255358 RCV001255340 RCV001257676	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Pathogenic	rs80359826, rs1057518821, rs1431778557	RCV000415466 RCV000415305 RCV001003569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonus	Pathogenic	rs1057518821	RCV000415305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal dystonia	Likely pathogenic; Pathogenic	rs1057518953	RCV000415325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2124446220, rs587784397, rs886039517, rs121909739, rs267607061, rs1057518821, rs80359812, rs1570592604	RCV005624499 RCV005624330 RCV003380534 RCV005624285 RCV001548750 RCV000415305 RCV005624431 RCV001003570	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1553155982	RCV000655968	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC2A1-related disorder	Likely pathogenic; Pathogenic	rs80359825, rs796053254, rs2524998439, rs267607061, rs80359818, rs2525035112, rs2524982606, rs80359843, rs1553155986, rs1553157935, rs1643441930	RCV005868051 RCV004725037 RCV004552492 RCV004549375 RCV004737154 RCV004550881 RCV004554445 RCV004555083 RCV005869576 RCV004553293 RCV001267666	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Strabismus	Pathogenic	rs1570592604	RCV001003570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beckwith-Wiedemann syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, INTRADUCTAL, NONINFILTRATING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ABSENCE EPILEPSY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS-SPASTICITY, EPISODIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS/SPASTICITY, EPISODIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 18	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonic disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY WITH MYOCLONIC ABSENCE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY WITH MYOCLONIC ABSENCES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal central nervous system disorders	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL EXERTION-INDUCED DYSKINESIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERITONEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2	Acth-independent macronodular adrenal hyperplasia	BEFREE	25766729		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	9344196		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29971769		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10870060, 12367793, 17046099, 18026974, 20884076, 22200795, 26539827, 28212997, 28644754, 30306561, 30552981, 30797490, 31271267, 31668020, 31792836, 9816281		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17452775		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	10806301		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	29719622		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	22253523		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23076555, 26539827, 28212997, 29225472, 29374742, 29756233, 31186081, 31355526, 31421224, 31516564		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	26692443		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	15517916		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	10870060		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	26300442, 28299426		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10487692, 18026974, 28412205, 9655290, 9816281		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18351386		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	18351386		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26361962		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	26587828	Associate	★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22509097, 28153442, 29404860		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26300442, 28299426		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating Hemiplegia	BEFREE	21445818, 22899793, 24491413, 24824604		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35123529, 38030680	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	38441044	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	17916337		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	22483234		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	22396073		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	16827797	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	18451999		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	LHGDN	18451999		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	28962011		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29404819, 31089713, 31311829		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	32967636, 37597521	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	31017307		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	31017307		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	26300442, 28299426		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	29149261		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21247498, 27986657, 29875324, 29970364, 30246263, 30405100, 31140595, 31338841, 31759247		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34588517	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	31466915		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	19117767		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15037634, 16781755, 18726700, 30844476, 31491891, 7877454		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15037634	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	21865127	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	29983692		★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21247498, 27986657, 29875324, 29970364, 30246263, 30405100, 31140595, 31338841, 31759247		★☆☆☆☆ Found in Text Mining only
Atrial myxoma familial	Atrial myxoma	Pubtator	24934577	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	CTD_human_DG	20526721		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25167861	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31597342		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21987722, 29257220, 30193222, 30252847, 31186749		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	17192900		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	10720109		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	28489118		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	28412205		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	16142350		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28222430, 28295307, 30868406		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24483274, 26537434, 29190809	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases Metabolic	Brain disease	Pubtator	22812641	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Diseases, Metabolic	Brain Diseases	BEFREE	22812641, 24200040, 29223885		★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	37960778	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10441480, 7877454, 8675694, 9166756		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	10441480	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	15147968		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19937674, 37528722, 8675694	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	16595493, 26829886		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15254667, 15389572, 16061647, 19586773, 19655166, 20197467, 20526721, 20679470, 21870331, 22270867, 22632973, 24636131, 25269858, 25304371, 26899926, 27011212, 27931517, 28187435, 28205432, 28609310, 28803837, 29029463, 29142019, 29550845, 29913554, 30360728, 30365149, 30508885, 30720225, 31015424, 31184216, 31780937		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20197467		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10950817, 12417042, 16595493, 16849102, 19655166, 19937674, 20679470, 23631762, 24395524, 25417118, 27931517, 29550845, 29691252, 32782317, 33256820, 33271824, 33888756, 34525987, 34580846, 35692593, 36476606, 37108300, 39300389, 40367522, 8700847, 9654596	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	27009166	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiolitis	Bronchiolitis	BEFREE	29944781		★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	17264775		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	29330176, 31845390		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	29330176		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19286567, 21528061, 24618292, 25048361, 25838393, 26838200, 27931517, 32174012	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	19234439	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	11920478, 15859637	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15331928, 15623657, 16045581, 18351386, 21226991, 21294792, 22200795, 23216071, 28412205, 30990881, 31423200, 9655290		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	26300442	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	25181405	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25053597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	34580846	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	27562387	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11836704, 16204727, 19286567, 25206282, 26546438, 28036362, 28790533, 29398870, 30306706, 30755064, 31160483, 31407220, 32084009, 32174012, 32357142, 33880589, 33929972, 34116652, 34128989, 36157928, 36362375, 39528670, 40141422, 40621461	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21332301	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	14608894, 18055005, 24020724		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	23409121	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	19234439	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	25053597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	20113375	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24584933, 28222430, 28295307, 30868406		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	21226991, 23983599, 24146103, 25412955, 26238658, 26600164, 28410229, 30464533, 30805937, 31669650		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11509120, 17264775, 21294792, 22200795, 25114038, 26508030, 26573871, 28177758, 30552981, 31269269, 31598171, 31839825, 9133454		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	11006027	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25121413, 31311829, 36536047	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11972644, 19077470, 21057536, 21332301, 21813754, 24625422, 28068944, 29481555, 30723389, 32533404, 8855223	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	19234439	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	24980293	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	10210213, 15181136, 24387319, 26410497, 32777161, 37445752	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21598042, 23098453, 24817962, 25306097, 25517770, 26539827, 31527827, 32863946, 36867945, 39526479	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	9344196		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	10870060		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	27995675		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15331928, 24164300, 27351131, 28542798		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	CTD_human_DG	22784439		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	37796701	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20526721, 27871808, 29662310		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27835618, 28669627, 31611932		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27835618, 34488469	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29257220, 30406996		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	40243517	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29484389, 29649974, 29869055		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	14608894, 23375385, 31527827, 31746025		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	18055005, 23375385		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12532423, 14608894, 23375385, 31527827, 31746025, 8719880		★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	16204727, 18271924, 29642912	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	24748236	Stimulate	★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	35279228, 36054588	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CHOREOATHETOSIS/SPASTICITY, EPISODIC	Dystonia	GENOMICS_ENGLAND_DG	18577546, 21832227, 27725288		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS/SPASTICITY, EPISODIC	Dystonia	BEFREE	21832227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS/SPASTICITY, EPISODIC	Dystonia	ORPHANET_DG	21832227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS/SPASTICITY, EPISODIC	Dystonia	UNIPROT_DG	21832227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS/SPASTICITY, EPISODIC	Dystonia	CLINVAR_DG	25108116		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS/SPASTICITY, EPISODIC	Dystonia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	21057536		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	7921415		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	34975312	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28842346		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	25342050		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17192900, 27511728, 31076448		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26455818, 27685807, 29130366		★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	31197180	Associate	★☆☆☆☆ Found in Text Mining only
Classic glucose transporter type 1 deficiency syndrome	Glucose Transporter Deficiency Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	BEFREE	21602815		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	25381171		★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	25381171	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28556183, 34780525, 37960778	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	29223885	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	7921415		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10025844, 10806301, 28945223, 31392276, 31423271, 31736063, 9655290, 9816281		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	20395120	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	11953883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	16101160, 17452775, 21528061, 22253523, 32420374	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17404017, 19619276, 21786248, 23481023, 26361962, 28000878, 28052033, 28086215, 28884839, 28915636, 29205188, 29463225, 30668361, 31392276, 9655290, 9816281		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17016487, 17387384, 19619276, 21245094, 21786248, 25227787, 26497206, 27460659, 29205188, 29374351, 29463225, 31392276, 31724326, 31736063, 32196590, 33750337, 34791830, 35247917, 35637944, 36026615, 37148838, 38044399, 38394402	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17080242, 17387384, 17404017		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	23060299, 30391747, 9816281		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35900536	Stimulate	★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	10870060		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	23370410		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	29897969		★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	BEFREE	10353717		★☆☆☆☆ Found in Text Mining only
Congenital hemangioma	Congenital Hemangioma	BEFREE	28552538		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	8675652	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	21445818, 24491413, 24824604		★☆☆☆☆ Found in Text Mining only
Congenital lamellar cataract	Congenital Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12379584, 18022084, 30195191		★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16337858, 21332301, 27453294, 28184927, 29481555, 30569446, 30723389		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	7921415		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29173085		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	33420213	Associate	★☆☆☆☆ Found in Text Mining only
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly	Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly	UNIPROT_DG	21791420, 22492876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly	Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly	GENOMICS_ENGLAND_DG	21791420, 21832227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly	Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly	ORPHANET_DG	21791420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly	Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly	CLINVAR_DG	25108116		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly	Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	28623294		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	23690474	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29741792		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	29044685, 29129814		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	30901608		★☆☆☆☆ Found in Text Mining only
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	BEFREE	31452092		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18973239		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30498336, 31765739		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	26919485, 31733642		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	10323476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	CTD_human_DG	10980529, 11603379, 9462754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	10022440, 16515729, 20375117, 21247498, 24610811, 26946260, 28058711, 28419670, 28969476, 29177584, 9112019		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	27981520, 34912302, 39684804	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	28125642, 32830408, 34555239	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10022440, 15745834, 16515729, 19152396, 19822956, 20375117, 21247498, 24610811, 26946260, 27884659, 27981520, 28058711, 28419670, 28969476, 29177584, 29257220, 9112019		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27981520, 35164795, 35900536, 35955706, 37158952, 8822374	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33276040, 34555239	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	24552568, 34555239, 35677051, 35752961	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	10231446, 11168944, 18821326, 19822956, 31222984, 33531564, 33989714, 34488469, 35164795	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	8675652	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11231353, 12086959, 15662550, 1569156, 15745834, 25701507, 29890131, 31597342, 9112019		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	12086959		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10231446, 11168944, 1348023, 1348045, 1359987, 15483099, 17251278, 18821326, 1968883, 19822956, 20648624, 20730618, 22744628, 22795339, 22961556, 23480298, 2354749, 26337659, 28608766, 29177584, 29207384, 30353771, 30459202, 30773997, 31222984, 31677302, 7516306, 7589880, 8904924, 9112019, 9137902, 9600248, 9789717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	9589670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	27037370, 29662310		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	10231446, 11168944, 11231353, 18821326, 19822956, 21247498, 31222984, 36314849	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10231446, 11168944, 11231353, 11477169, 12086959, 15502921, 15682272, 15717166, 15745834, 16515729, 18821326, 19152396, 19822956, 20375117, 21247498, 21613414, 22707195, 25701507, 26337659, 29686650, 30353771, 30798323, 31222984		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	12086959, 15502921, 15745834, 17167225, 18821326		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	10495475, 22795339, 28785055, 29207384, 31270273		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	26838200, 40282848	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	25125078		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	CTD_human_DG	20526721		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	BEFREE	23622292, 26598494, 28090678, 30895386		★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	18451999, 18577546, 19630075, 20425035, 20574033, 21204808, 21530357, 21555602, 23443458, 24483274		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	LHGDN	18451999		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10766892, 12752470, 1714544, 18577546, 19798636, 20129935, 20221955, 20687207, 21555602, 21791420, 21832227, 22492876, 23280796, 23306390, 23443458, 24963779, 26193382, 26304067, 26336901, 26537434, 26598494		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33446253	Associate	★☆☆☆☆ Found in Text Mining only
DYSTONIA 12	Dystonia	BEFREE	12194383		★☆☆☆☆ Found in Text Mining only
DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder)	Dystonia	ORPHANET_DG	18688663		★☆☆☆☆ Found in Text Mining only
Dystonia 18	Dystonia	Pubtator	18577546, 21204808, 24483274, 25564316, 27098784	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 18 (disorder)	Dystonia	GENOMICS_ENGLAND_DG	10980529, 18577546, 21791420, 21832227, 27604308, 27725288		★☆☆☆☆ Found in Text Mining only
DYSTONIA 18 (disorder)	Dystonia	CLINVAR_DG	10980529, 25108116		★☆☆☆☆ Found in Text Mining only
DYSTONIA 18 (disorder)	Dystonia	UNIPROT_DG	14605501, 18451999, 19630075, 19798636, 20129935, 20574033, 20621801, 20830593, 21204808		★☆☆☆☆ Found in Text Mining only
DYSTONIA 18 (disorder)	Dystonia	BEFREE	20425035, 21229316, 21962875, 25564316, 30076047		★☆☆☆☆ Found in Text Mining only
DYSTONIA 18 (disorder)	Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DYSTONIA 18 (disorder)	Dystonia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Dystonia 3, Torsion, X-Linked	Dystonia	BEFREE	19578124		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	20425035, 22166420, 23443458, 29983692		★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	23770704, 26940670		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	23280796, 23443458, 24483274, 26060908, 31452092		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17342330, 22270867, 22351475, 30139517, 31564647		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16892013, 19878980, 22270867, 31564647, 31686415	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24412827		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24796928	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsia Partialis Continua	Epilepsia Partialis Continua	BEFREE	28866335		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	21865127, 26537434	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	21530357, 25022942, 28419980		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	14605501, 16149086, 18479384, 18577546, 19237265, 20574033, 21204808, 21366555, 22282645, 22622956, 22812641, 23280796, 23306390, 24483274, 25022942, 25914049, 26060908, 26088884, 26537434, 27725288, 28434495, 29303961, 29730803, 30870728, 30885501, 30895386		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	18577546, 21204808, 24483274, 26537434, 28556183, 29056246, 29190809, 31302675, 34332575, 39344240, 39950246	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Absence	Absence epilepsy	Pubtator	23020086, 26537434, 31045803, 31401500, 35279228, 36842888	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	10323476	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	26537434, 29223885, 31401500	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	36374051, 36842888	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy with myoclonic-atonic seizures	Myoclonic atonic seizures	BEFREE	30831398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, CHILDHOOD ABSENCE, 1	Epilepsy	ORPHANET_DG	19798636, 23280796		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	23106342, 24483274, 25022942, 25532859, 28419980, 29223885, 30361188, 31401500		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	17052934, 17718830, 26537434		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35886038	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	30870728		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	26598494		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	26598494		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24164300, 27351131		★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	28552538		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	28374859		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19136271	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30861255, 33562270, 34502178, 35653269, 37329213	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG	21555602, 22976442, 25487684		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	31537060		★☆☆☆☆ Found in Text Mining only
Extrapyramidal dyskinesia	Extrapyramidal dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	25181405	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	26598494		★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	27098784	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	26932421		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27848249, 30970216		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	16273245		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	16273245		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	20512538, 37747441	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	23307190		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	23307190		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	26358256	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	26509967, 34738628	Associate	★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	31401500, 35886038	Associate	★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	BEFREE	27098784		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	30361188		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	27930932		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15147968, 16781755, 17700518, 25963717, 30844476, 30990881, 31491891, 31494931, 8675694		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18618497, 20395120, 23859461, 30990881, 38098117, 39196480, 8675694	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37420311	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15147968, 16781755, 17700518, 24465898, 25963717, 29093638, 30700763, 30844476, 30990881, 31491891, 31494931, 8675694		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10441480, 28646353, 31492194, 7877454		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18695903		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23859461, 31494931, 34520391	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	10980529, 17489814, 25022942, 30895386		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG	21555602, 22976442, 25487684		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	27725288		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	16515729, 20375117		★☆☆☆☆ Found in Text Mining only
Glut1 Deficiency Syndrome	GLUT1 Deficiency Syndrome	BEFREE	10227690, 10323476, 10980529, 11477212, 12752470, 15622525, 16497725, 17052934, 17489814, 17718830, 18614966, 19690067, 20221955, 20382060, 20417043, 21366555, 21445818, 21546317, 21791420, 22132964, 22190371, 22492876, 22814174, 23443458, 23483445, 25022942, 25487684, 25914049, 25982116, 26193382, 26537434, 28106060, 28124377, 28341645, 28378819, 28443597, 28556183, 28993322, 29223885, 29303961, 30076047, 30616884, 30885501, 30895386, 31035243, 31045803, 31047728, 31247999, 31399478, 31464092		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glut1 Deficiency Syndrome	GLUT1 Deficiency Syndrome	CLINGEN_DG	10562431, 16497725, 18451999, 2348864, 26193382, 2710134, 28119822, 9462754		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glut1 Deficiency Syndrome	GLUT1 Deficiency Syndrome	CTD_human_DG	10980529, 11603379, 17489814, 9462754		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glut1 Deficiency Syndrome	GLUT1 Deficiency Syndrome	CLINVAR_DG	18606970		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glut1 Deficiency Syndrome	GLUT1 Deficiency Syndrome	ORPHANET_DG	23890838		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLUT1 DEFICIENCY SYNDROME 1	GLUT1 Deficiency Syndrome	UNIPROT_DG	10227690, 10980529, 11136715, 11603379, 12325075, 15622525, 19901175, 20129935, 20221955, 20574033, 24847886, 25982116, 30197081		★☆☆☆☆ Found in Text Mining only
GLUT1 DEFICIENCY SYNDROME 1	GLUT1 Deficiency Syndrome	CLINGEN_DG	10562431, 16497725, 18451999, 2348864, 26193382, 2710134, 28119822, 9462754		★☆☆☆☆ Found in Text Mining only
GLUT1 DEFICIENCY SYNDROME 1	GLUT1 Deficiency Syndrome	GENOMICS_ENGLAND_DG	10980529, 18577546, 21832227, 27604308, 27725288		★☆☆☆☆ Found in Text Mining only
GLUT1 DEFICIENCY SYNDROME 1	GLUT1 Deficiency Syndrome	CLINVAR_DG	10980529, 12325075, 17052934, 19798636, 21555602, 22976442, 25108116, 25487684		★☆☆☆☆ Found in Text Mining only
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	Glut1 Deficiency Syndrome	CLINGEN_DG	10562431, 16497725, 18451999, 2348864, 26193382, 2710134, 28119822, 9462754		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	Glut1 Deficiency Syndrome	CLINVAR_DG	11076005, 11477212, 16217704, 18403583, 18451999, 19630075, 19996082, 20129935, 20221955, 20687207, 21555602, 21832227, 21865127, 22704013, 22976442, 23106342, 23280796, 23340081, 23448551, 24080273, 25487684, 26193382, 26598494, 26615598, 27351150, 28018440, 28554332, 9335548		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	29373603		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	33916948	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	19317609, 23617290, 31105886		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	12569601, 21226991, 21865127, 23617290	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28034463		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12379584, 18022084, 30195191		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18022084	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	7595657		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	LHGDN	14991538		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	24704994, 26086095, 28370639, 28545938, 28552538		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	35485760, 39337249	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	28552538		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	21572340	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	27725288, 30616884		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22986897	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary cryohydrocytosis with reduced stomatin	Hereditary Cryohydrocytosis With Reduced Stomatin	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Pancreatitis	Pubtator	22270867	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	28689885, 30175382, 30541422		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	23228169	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	24452335, 29317536		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	37898095	Associate	★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	17437443		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	17347910, 8828968		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	18990414		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	20107107, 24610811, 26381034, 27037370, 28058711, 28624040, 31270273, 9737725, 9766571		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	35955706	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	28633902, 31140595		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28537431		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	8675652	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	8828968		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	27562387	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19562039	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16515729, 21170893, 30636546		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	30825200		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	10231446, 11231353	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	10441480, 10495475, 17416968, 28069424		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	10441480	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	LHGDN	12064911		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	24912776	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	10441480, 16849522, 17442736, 17609976, 17658463, 18351386, 21245094, 21332301, 28028936, 28068944, 28547957, 28874504, 33378978, 34379579, 35627137, 36157928, 36230969, 37759548, 39323909, 7658223	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15677538, 15847702, 17452775, 18281542, 18283323, 18618497, 19540709, 20395120, 20526217, 20569445, 20890613, 22684218, 23098453, 23148666, 23165899, 23178531, 23322209, 23409121, 23424623, 23509317, 23696831, 23927384, 26207380, 26339163, 28000962, 29128957, 32351020, 32851507, 33256820, 33261601, 36140669, 36316355, 36362375, 37329213, 40282848, 9751722	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	31182397		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	18577546, 27725288		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	22282645		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	31756307		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	23699745, 32851507	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25022942, 28106060, 30361188, 30468642, 30714351		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	CTD_human_DG	23452774		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	18535669, 23370410, 26940670, 28545938, 28552538, 29093274, 30318648, 30913983		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	30870728		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17986714, 8675652	Stimulate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32830408	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10194529		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20574033, 21204808, 21229316, 26537434, 28434495		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	21204808, 22212417	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intestinal Atresia	Intestinal Atresia	BEFREE	31261244		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	30239959, 30240853		★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	29897969	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	26062860, 27924463		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	8421107		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10231446, 15717166, 16515729, 19822956, 20375117, 29207384, 30353771		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	10231446, 11231353	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	11168944	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	29022645	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	21226991, 25120770, 25412955	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	34800155	Stimulate	★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	24980293	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	17489814	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	31399478		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	29447158		★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	31416725		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22859971, 24016597, 25321477, 32546972	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24641416, 26218201	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24641416, 27760406		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	30115503		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23227892, 30536316, 31423200		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	30526049		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	11836704		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17520257, 19286567, 19874261, 21269938, 21332301, 22360859, 24297035, 26546438, 26829886, 27663597, 28260073, 29072691, 29398870, 29925918, 30016218, 30306706, 30399372, 30503555, 30777103, 30817182, 31407220, 31516592, 9462754		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	8364915		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10622535, 17520257, 26546438, 9462754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	21332301	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	26943884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	15967114, 20395120, 23699745, 27902598	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	21294792, 26508030, 31356554		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10622535, 18284607		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10622535	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15181136, 15967114, 17881895, 25838393, 26358256, 26508030, 28028936, 28644754, 31269269, 34194828, 34708297, 34939468	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15967114		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30462889		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	14734665, 23935399, 31527827	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21226991, 21528061, 29164572	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	23375385		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	22270867	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19536037, 21987722		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	20395120, 21987722, 32533646, 37385675	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	15181136, 31197180	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	31197180		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	29983692		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	30946360	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	26919485		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23617290, 31105886		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	22784439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15254667, 15389572, 16061647, 19586773, 19655166, 20197467, 20526721, 20679470, 21870331, 22270867, 22632973, 23409121, 25269858, 25304371, 25417118, 26899926, 27011212, 27931517, 28187435, 28205432, 28609310, 28803837, 29029463, 29142019, 29550845, 29913554, 30360728, 30365149, 30508885, 30720225, 31015424, 31184216, 31780937		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20197467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22351475, 30139517, 31564647		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	29022645		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	25412955, 30805937		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	26943884		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30847404		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10622535, 11509120, 17264775, 21294792, 22200795, 25114038, 26508030, 26573871, 28177758, 30552981, 31269269, 31598171, 31839825, 9133454		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	23227892, 30536316, 31423200		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15331928, 28542798		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	20138251		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15349101, 21227456, 28086215, 28178665, 28180987, 31194859		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15517916, 17426252, 21938742, 22310774, 24932809, 24942741, 29105798, 29159872, 29684818, 30104655, 30673592, 30875788, 30989489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20220543, 26078811, 26193257, 28086215, 31423208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12481939, 17854396, 26381034		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24584933, 28222430, 28295307, 30868406		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10487692, 10870060, 11953883, 12481939, 15331928, 15389572, 15517916, 16523487, 18026974, 18979289, 20648624, 20702724, 21057536, 21226991, 21332301, 21938742, 22282467, 22752218, 22835601, 23076555, 23178531, 23184277, 23983599, 24020724, 24022001, 24465898, 24477641, 24847886, 25376370, 26238658, 26381034, 26643879, 26829886, 27260309, 27663597, 27792451, 27918085, 27931517, 28053105, 28086215, 28187435, 28350451, 28462838, 28498810, 28621523, 28759035, 28874504, 28915636, 28969033, 29066887, 29072691, 29107073, 29128957, 29205188, 29290263, 29374351, 29416806, 29507622, 29749314, 29788889, 30298127, 30459202, 30536316, 30602670, 30668361, 30700737, 30868406, 31181707, 31186763, 31269269, 31319979, 31324056, 31384542, 31403357, 31405847, 31407220, 31423271, 31516592, 31564647, 31581916, 8314336, 9344196		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	14608894, 23375385, 31527827, 31746025		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10025844, 10806301, 25227787, 28945223, 31392276, 31423271, 31736063, 9816281		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	11953883		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	18614966, 19515520, 20425035, 21791420, 22011817, 22492876, 25440161, 26193382, 26304067, 29199027, 30887279		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20197467		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12960090, 14507633, 15623657, 16523487, 22270867, 27998284, 30360728		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14674124		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20197467		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20197467		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	29128957	Associate	★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	11485019, 2404717		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	LHGDN	18764953		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	24997364, 29128957		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18764953		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18764953	Inhibit	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24997364, 25205294, 26293674, 26934938, 27556188, 27718503, 29128957, 29929176, 31135601, 31403357, 31791701, 9344196		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26293674, 29128957, 31403357, 32744696, 37506884, 39370252	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	37960778	Associate	★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	30233382		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	21135204, 23427181		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26919485, 31733642		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21229316		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	LHGDN	17192790		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21411785		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	17192790, 22619123, 30111297, 32510678	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	14605501, 17347910, 28198625, 28608766, 30459202, 31324056		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	32898636, 34478732	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35865519	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29875324		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	10323476, 19515520, 19591936, 21366555, 22812641, 22814174, 25022942, 30895386		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	10323476	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	CTD_human_DG	10980529, 9462754		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microlissencephaly	Microlissencephaly	CTD_human_DG	10980529, 9462754		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	29875324		★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	26536893		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	27232157, 30536316, 31638999	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10766892, 12752470, 1714544, 18577546, 19798636, 20129935, 20221955, 20687207, 21555602, 21791420, 21832227, 22492876, 22976442, 23280796, 23306390, 23443458, 24963779, 25487684, 26193382, 26304067, 26336901, 26537434, 26598494		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	16149086, 20063428, 21229316, 21962875, 25099510, 25564316, 26537434, 28341645, 28419980, 28434495, 30616884		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	22212417, 25564316, 28556183	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	18026974		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	28299426		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19106193	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	23319699		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25203395, 31611932		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	19695232		★☆☆☆☆ Found in Text Mining only
Myoclonic Absence Epilepsy	Myotonia Levior	BEFREE	21546317		★☆☆☆☆ Found in Text Mining only
Myoclonic absences	Myoclonic absences	BEFREE	21546317		★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	BEFREE	21555602, 26537434		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	21865127		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
MYOCLONIC-ATONIC EPILEPSY	Myoclonic-Atonic Epilepsy	BEFREE	21555602, 26537434, 31045803		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	BEFREE	27098784		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	27098784	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	19822956	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	35727147	Stimulate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	19822956, 27884659		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28053105, 29164572		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28053105, 29164572	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	15859637, 18351386, 19234439, 20395120	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10025844, 10574596, 11326319, 12367793, 12414908, 12481939, 15297440, 15331928, 15389572, 16523487, 16595493, 17046099, 17079462, 17080242, 17404017, 17437443, 17520257, 18026974, 18086000, 18281490, 18284607, 18314489, 18351643, 18571834, 18850011, 19286567, 19317609, 19423005, 19536037, 19554504, 19619276, 19709351, 20197467, 20220543, 20351353, 20570889, 20679470, 20884076, 21109935, 21294792, 21306648, 21332301, 21643985, 21786248, 22200795, 22253523, 22270867, 22483234, 23187830, 23617290, 23718763, 24020991, 24022001, 24206539, 24260413, 24294391, 24477641, 24502553, 24636131, 24699711, 24817962, 25027580, 25144301, 25193114, 25238572, 25239452, 25306097, 25412955, 25417118, 25596248, 25608150, 25687883, 25719198, 26078811, 26193257, 26293674, 26361962, 26407611, 26509967, 26513490, 26600164, 26658802, 26975021, 27009166, 27013198, 27920093, 27998284, 28178665, 28260073, 28387902, 28410190, 28410229, 28428562, 28467806, 28498810, 28524154, 28542798, 28545086, 28621523, 28732079, 28781680, 28874144, 28945223, 28977837, 29065106, 29080392, 29105798, 29142019, 29164763, 29205188, 29282992, 29404819, 29546798, 29629851, 29633614, 29642912, 29684818, 29762853, 29932973, 30246018, 30306706, 30344747, 30399372, 30552981, 30553996, 30679163, 30728892, 30819129, 30844476, 30861255, 30875788, 30990881, 30995126, 31271267, 31300363, 31324056, 31423208, 31445355, 31491891, 31526971, 31527827, 31537060, 31668020, 31736063, 31783048, 31786674, 31792836, 31824854, 7595657, 8314336, 8421107, 8599249, 8675694, 8719880, 9133454, 9251924, 9328846, 9344196, 9816281		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	21910893		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	23452774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	29303961, 30895386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	23307190, 26829886, 30553996		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37960778	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28150866, 29317536		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28106060, 31464092		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	27995675, 28803235		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	BEFREE	16515729, 20375117, 25701507		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	22961556, 28877979		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18284607, 20388802, 20540786, 20648624, 20884076, 22200795, 25837797, 28212997, 28548087, 28977837, 30062472, 30089592, 30174790, 30220973, 30344747, 30967777, 31410027, 31561126, 31598171, 31668020, 31764590		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	20526721, 23409121, 27998284, 31653758		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	CTD_human_DG	20526721		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15483099, 2354749, 29191638, 30459202, 30526049, 9600248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	18212354	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	24597478	Associate	★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	28489118		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	18726700		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18973239		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29254196		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28121025		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	20854211, 21321933, 24502553, 28547952, 28781680, 31423193, 31802912		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25193692, 36316355	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15331928, 28542798		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15331928		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	20138251		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11920478, 19156916, 20395120, 29866066, 36012230, 36207479, 38583177	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	17437443		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15349101, 21227456, 28086215, 28178665, 28180987, 31194859		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29404819, 31089713		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18953257		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11850481, 21206329, 26692443, 30639415, 32967636, 33051382, 34660806, 35915609, 36057597, 37260110, 37597521, 37604837, 9293784, 9776278	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	18660794		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	7921415		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	17488796, 18509003, 22376167, 23688271, 26513490, 27920093, 29978611		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	21266827		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23963315		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)	Parkinson disease	BEFREE	29983692		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	12598436	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23893446		★☆☆☆☆ Found in Text Mining only
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	26598494		★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	BEFREE	19348709, 21832227, 27098784, 30616884		★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	27098784	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	GENOMICS_ENGLAND_DG	27725288		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	19348709, 22752065, 27098784		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30729535		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	27930932		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal Neoplasms	CTD_human_DG	22784439		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Adenoma	Pituitary adenoma	BEFREE	28680051		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	26753958, 36936141	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15613682, 29306057, 29359480, 30546347, 30623452		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	30623452	Associate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	11052976	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29515488		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	28058711		★☆☆☆☆ Found in Text Mining only
Primary dystonia, DYT17 type	Dystonia	Orphanet			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	22270867	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15517916, 17426252, 21938742, 22310774, 24932809, 24942741, 29105798, 29159872, 29684818, 30104655, 30673592, 30875788, 30989489		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	12673735, 37501430	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15517916, 23359198, 29684818, 30989489, 34379579, 35039635, 35242214	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	19020742		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	11168944, 11231353	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	21791420, 23622389		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	37898095	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	18565734		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	23330712, 29662201, 29797802, 30480843		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	30480843		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	39950246	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35145193	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27997810, 31822523		★☆☆☆☆ Found in Text Mining only
Punding	Punding	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	22072148, 22199327, 28052033, 31127991		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	29022645		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17437443, 21332301, 27453294		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	7921415		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28842346		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30646560		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	10231446, 15745834		★☆☆☆☆ Found in Text Mining only
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	BEFREE	31012539		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29295858		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	12598436	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	26940670		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	17043658, 29501533, 31537060		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	29641463		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous Retinal Detachment Autosomal Dominant	Rhegmatogenous retinal detachment	Pubtator	29641463	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29844591		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	30946009	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	7921415		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	32898636, 36310155	Associate	★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	BEFREE	9344196		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	18086000		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	22812641, 31401500, 32134591, 35886038	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	26949091, 30214506, 31261857		★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	10980529, 9462754		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	36155926	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	15509684	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	28115703, 30357741		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31399478		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	GENOMICS_ENGLAND_DG	27725288		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	30616884		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	LHGDN	18212354		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	29524103		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15847702, 19020718		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16045581, 17046099, 19709351, 20884076, 21109935, 21475039, 25306097, 26539827, 28187435, 28212997, 28548087, 31305638, 31527827, 8314336, 9344196		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27260309, 29629851, 30861255		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	12569601, 20428049, 25048361, 26062860, 26838200, 29107073, 30536316, 32238919, 32823607, 33760210, 35854304, 35920070, 37762374, 38422829, 40282848	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37542344	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31516564		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	23227892		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	29662084		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24022001, 28370718, 29107073, 29942793, 30844476		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	23227892, 29080392		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28866335		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20220543, 26078811, 26193257, 28086215, 31423208		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10983690, 23135628, 23935399, 28440026, 30613280, 32201432, 33735188	Associate	★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	GENOMICS_ENGLAND_DG	21791420, 22492876		★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	BEFREE	22406315		★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	18535669, 23370410, 26940670, 28545938, 28552538, 29093274, 30318648, 30913983		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28962011		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	30333864		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	32203583	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29978611, 35929906	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10487692, 12481939, 17854396, 19652218, 26381034		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	16273245		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10487692, 12481939, 18571834, 26381034		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	18571834, 31888560, 36253663	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	23510334, 29084538, 38415532	Inhibit	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	11603379		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21266827, 28803837, 31707383		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24020991	Stimulate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	21613414		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	26919485		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	28075397		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25266796, 28222430, 34861846, 34906161	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23098453	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	35615882	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	14734665, 22398711, 23927384, 27649450, 31527827, 35615882, 37042849	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	26932421		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	23077404		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33302435	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	15509684, 19822956	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29970364		★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	23370410		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	10980529, 11603379, 9462754		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	18726700		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	10690909		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	21445818, 24491413, 24824604		★☆☆☆☆ Found in Text Mining only