FGFR1 (fibroblast growth factor receptor 1)

Gene

• Entrez ID: 2260
• Gene name: Fibroblast growth factor receptor 1
• Gene symbol: FGFR1
• Synonyms (NCBI Gene): BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1
• Chromosome: 8
• Chromosome location: 8p11.23
• Summary: The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affini

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909627	G>C	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs121909628	G>A,C	Risk-factor, pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs121909629	C>T	Risk-factor	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121909630	C>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs121909631	T>C	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121909632	T>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant
rs121909633	A>G	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs121909634	A>G	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121909635	C>T	Risk-factor	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs121909636	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs121909637	C>A,T	Risk-factor	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121909638	A>G	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant
rs121909639	G>A	Risk-factor, pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs121909640	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs121909641	G>A	Risk-factor, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121909642	G>A	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121909643	C>A,G	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121909644	C>A,T	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant, non coding transcript variant
rs121909645	C>G,T	Risk-factor, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs121913472	G>T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs121913473	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs201490643	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs267606805	G>T	Risk-factor	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs267606806	G>A,C	Risk-factor	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs374904700	A>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic downstream transcript variant, downstream transcript variant, intron variant
rs376416531	C>A,G,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs397515444	G>A,T	Risk-factor	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs397515445	T>C	Risk-factor	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs397515446	C>T	Risk-factor	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs397515481	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs398122945	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs398122946	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs515726222	C>T	Uncertain-significance, pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, splice donor variant, missense variant
rs515726223	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs515726224	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs515726225	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs528376963	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs557754125	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs587776835	CA>-	Risk-factor	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs727505369	T>C	Likely-pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs727505370	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs727505371	AG>-	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs727505373	T>C	Likely-pathogenic	Genic upstream transcript variant, intron variant, missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs727505376	C>G,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs727505377	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs777345476	A>G	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs779707422	G>A,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs780009859	G>A,C	Likely-benign, pathogenic	Missense variant, synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs863223331	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs869025669	A>G	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs869025670	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs869025671	C>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs869025672	A>C,G	Likely-benign, pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs869320694	T>C	Pathogenic-likely-pathogenic, likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs876661332	C>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs876661333	C>T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs876661334	C>T	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs876661335	C>T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs886037634	C>T	Risk-factor, pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs886041780	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057518060	C>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057518218	TTGTGGCTGGG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057519897	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs1057519898	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057519899	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057520536	G>C	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057524546	C>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1060499663	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1064793120	G>A	Likely-pathogenic	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs1064793121	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1064793122	C>T	Likely-pathogenic	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant
rs1064793123	G>A	Likely-pathogenic	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant
rs1085307879	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1131691929	C>T	Likely-pathogenic	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs1554547400	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs1554548102	T>A	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1554548253	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs1554549628	A>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs1554551657	ATC>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion, non coding transcript variant
rs1554551667	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs1554551706	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs1554552774	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1554562081	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs1554564353	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs1554570706	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs1554570813	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs1554594114	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs1563433902	A>G,T	Risk-factor, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1563436265	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1563626890	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1563627742	->GACCAGC	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1586083500	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant
rs1586111679	GT>-	Risk-factor	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1586172462	C>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1586287678	C>T	Risk-factor	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs1586287963	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1586315809	->T	Likely-pathogenic	5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1586375906	TGCGGGCACGGAGTC>-	Likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, non coding transcript variant, inframe deletion, genic upstream transcript variant
rs1586379523	G>A	Likely-pathogenic	Intron variant, stop gained, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003228	hsa-miR-424-5p	Luciferase reporter assay	20065103
MIRT006795	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	21885851
MIRT007113	hsa-miR-133b	Luciferase reporter assay, Western blot	23296701
MIRT007113	hsa-miR-133b	Luciferase reporter assay, Western blot	23296701
MIRT007113	hsa-miR-133b	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23296701
MIRT022300	hsa-miR-124-3p	Microarray	18668037
MIRT047650	hsa-miR-10a-5p	CLASH	23622248
MIRT047295	hsa-miR-181b-5p	CLASH	23622248
MIRT038377	hsa-miR-296-3p	CLASH	23622248
MIRT037725	hsa-miR-744-5p	CLASH	23622248
MIRT003228	hsa-miR-424-5p	Luciferase reporter assay, qRT-PCR, Western blot	23803556
MIRT003228	hsa-miR-424-5p	Luciferase reporter assay, qRT-PCR, Western blot	23803556
MIRT003228	hsa-miR-424-5p	Luciferase reporter assay, qRT-PCR, Western blot	23803556
MIRT054638	hsa-miR-214-3p	In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24616020
MIRT054638	hsa-miR-214-3p	In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24616020
MIRT054855	hsa-miR-149-5p	Luciferase reporter assay, qRT-PCR, Western blot	24463821
MIRT054856	hsa-miR-149-3p	Luciferase reporter assay, qRT-PCR, Western blot	24463821
MIRT003228	hsa-miR-424-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR	23263626
MIRT437379	hsa-miR-503-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR	23263626
MIRT054638	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR	23962428
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT054638	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR	23962428
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT438048	hsa-miR-198	Luciferase reporter assay	24357456
MIRT625532	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625531	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625530	hsa-miR-1281	HITS-CLIP	23824327
MIRT625529	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625527	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625526	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625525	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625524	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625523	hsa-miR-4284	HITS-CLIP	23824327
MIRT625522	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT625521	hsa-miR-7977	HITS-CLIP	23824327
MIRT625532	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625531	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625530	hsa-miR-1281	HITS-CLIP	23824327
MIRT625529	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625527	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625526	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625525	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625524	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625523	hsa-miR-4284	HITS-CLIP	23824327
MIRT625522	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT625521	hsa-miR-7977	HITS-CLIP	23824327
MIRT625532	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625531	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625530	hsa-miR-1281	HITS-CLIP	23824327
MIRT625528	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625525	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625524	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625522	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT625521	hsa-miR-7977	HITS-CLIP	23824327
MIRT625532	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625531	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625530	hsa-miR-1281	HITS-CLIP	23824327
MIRT625529	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625528	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625527	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625526	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625525	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625524	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625523	hsa-miR-4284	HITS-CLIP	23824327
MIRT625522	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT625521	hsa-miR-7977	HITS-CLIP	23824327
MIRT054638	hsa-miR-214-3p	PAR-CLIP	26701625
MIRT054638	hsa-miR-214-3p	PAR-CLIP	26701625
MIRT054638	hsa-miR-214-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR	31492847
MIRT734591	hsa-miR-223-3p	Immunohistochemistry (IHC), In situ hybridization	31533233
MIRT734594	hsa-miR-431-3p	Immunohistochemistry (IHC), In situ hybridization	31533233
MIRT737477	hsa-miR-652-3p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	31777550
MIRT625532	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625531	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625530	hsa-miR-1281	HITS-CLIP	23824327
MIRT625529	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625527	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625526	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625525	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625524	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625523	hsa-miR-4284	HITS-CLIP	23824327
MIRT625522	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT625521	hsa-miR-7977	HITS-CLIP	23824327
MIRT625532	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625531	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625530	hsa-miR-1281	HITS-CLIP	23824327
MIRT625529	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625527	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625526	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625525	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625524	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625523	hsa-miR-4284	HITS-CLIP	23824327
MIRT625522	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT625521	hsa-miR-7977	HITS-CLIP	23824327
MIRT625532	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625531	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625530	hsa-miR-1281	HITS-CLIP	23824327
MIRT625528	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625525	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625524	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625522	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT625521	hsa-miR-7977	HITS-CLIP	23824327
MIRT625532	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625531	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625530	hsa-miR-1281	HITS-CLIP	23824327
MIRT625529	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625528	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625527	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625526	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625525	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625524	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT625523	hsa-miR-4284	HITS-CLIP	23824327
MIRT625522	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT625521	hsa-miR-7977	HITS-CLIP	23824327
MIRT995922	hsa-let-7a	CLIP-seq
MIRT995923	hsa-let-7b	CLIP-seq
MIRT995924	hsa-let-7c	CLIP-seq
MIRT995925	hsa-let-7d	CLIP-seq
MIRT995926	hsa-let-7e	CLIP-seq
MIRT995927	hsa-let-7f	CLIP-seq
MIRT995928	hsa-let-7g	CLIP-seq
MIRT995929	hsa-let-7i	CLIP-seq
MIRT995930	hsa-miR-1224-5p	CLIP-seq
MIRT995931	hsa-miR-15a	CLIP-seq
MIRT995932	hsa-miR-15b	CLIP-seq
MIRT995933	hsa-miR-16	CLIP-seq
MIRT995934	hsa-miR-195	CLIP-seq
MIRT995935	hsa-miR-202	CLIP-seq
MIRT995936	hsa-miR-214	CLIP-seq
MIRT995937	hsa-miR-3150b-3p	CLIP-seq
MIRT995938	hsa-miR-3162-3p	CLIP-seq
MIRT995939	hsa-miR-3174	CLIP-seq
MIRT995940	hsa-miR-3606	CLIP-seq
MIRT995941	hsa-miR-3646	CLIP-seq
MIRT995942	hsa-miR-3669	CLIP-seq
MIRT995943	hsa-miR-3923	CLIP-seq
MIRT995944	hsa-miR-424	CLIP-seq
MIRT995945	hsa-miR-4252	CLIP-seq
MIRT995946	hsa-miR-4422	CLIP-seq
MIRT995947	hsa-miR-4436b-5p	CLIP-seq
MIRT995948	hsa-miR-4446-5p	CLIP-seq
MIRT995949	hsa-miR-4458	CLIP-seq
MIRT995950	hsa-miR-4500	CLIP-seq
MIRT995951	hsa-miR-4536	CLIP-seq
MIRT995952	hsa-miR-4689	CLIP-seq
MIRT995953	hsa-miR-4723-5p	CLIP-seq
MIRT995954	hsa-miR-4751	CLIP-seq
MIRT995955	hsa-miR-4755-5p	CLIP-seq
MIRT995956	hsa-miR-4784	CLIP-seq
MIRT995957	hsa-miR-497	CLIP-seq
MIRT995958	hsa-miR-577	CLIP-seq
MIRT995959	hsa-miR-921	CLIP-seq
MIRT995960	hsa-miR-939	CLIP-seq
MIRT995961	hsa-miR-98	CLIP-seq
MIRT995922	hsa-let-7a	CLIP-seq
MIRT995923	hsa-let-7b	CLIP-seq
MIRT995924	hsa-let-7c	CLIP-seq
MIRT995925	hsa-let-7d	CLIP-seq
MIRT995926	hsa-let-7e	CLIP-seq
MIRT995927	hsa-let-7f	CLIP-seq
MIRT995928	hsa-let-7g	CLIP-seq
MIRT995929	hsa-let-7i	CLIP-seq
MIRT995962	hsa-miR-1208	CLIP-seq
MIRT995963	hsa-miR-1224-3p	CLIP-seq
MIRT995964	hsa-miR-1245	CLIP-seq
MIRT995965	hsa-miR-1260	CLIP-seq
MIRT995966	hsa-miR-1260b	CLIP-seq
MIRT995967	hsa-miR-1280	CLIP-seq
MIRT995968	hsa-miR-145	CLIP-seq
MIRT995931	hsa-miR-15a	CLIP-seq
MIRT995932	hsa-miR-15b	CLIP-seq
MIRT995933	hsa-miR-16	CLIP-seq
MIRT995969	hsa-miR-1825	CLIP-seq
MIRT995970	hsa-miR-188-3p	CLIP-seq
MIRT995971	hsa-miR-1913	CLIP-seq
MIRT995972	hsa-miR-194	CLIP-seq
MIRT995934	hsa-miR-195	CLIP-seq
MIRT995973	hsa-miR-199a-5p	CLIP-seq
MIRT995974	hsa-miR-199b-5p	CLIP-seq
MIRT995935	hsa-miR-202	CLIP-seq
MIRT995975	hsa-miR-3120-3p	CLIP-seq
MIRT995976	hsa-miR-3126-5p	CLIP-seq
MIRT995977	hsa-miR-3138	CLIP-seq
MIRT995937	hsa-miR-3150b-3p	CLIP-seq
MIRT995978	hsa-miR-3156-3p	CLIP-seq
MIRT995939	hsa-miR-3174	CLIP-seq
MIRT995979	hsa-miR-324-3p	CLIP-seq
MIRT995940	hsa-miR-3606	CLIP-seq
MIRT995980	hsa-miR-3616-5p	CLIP-seq
MIRT995941	hsa-miR-3646	CLIP-seq
MIRT995981	hsa-miR-3647-5p	CLIP-seq
MIRT995982	hsa-miR-3661	CLIP-seq
MIRT995983	hsa-miR-371-5p	CLIP-seq
MIRT995984	hsa-miR-3913-3p	CLIP-seq
MIRT995944	hsa-miR-424	CLIP-seq
MIRT995947	hsa-miR-4436b-5p	CLIP-seq
MIRT995949	hsa-miR-4458	CLIP-seq
MIRT995985	hsa-miR-4461	CLIP-seq
MIRT995950	hsa-miR-4500	CLIP-seq
MIRT995951	hsa-miR-4536	CLIP-seq
MIRT995952	hsa-miR-4689	CLIP-seq
MIRT995986	hsa-miR-4690-3p	CLIP-seq
MIRT995953	hsa-miR-4723-5p	CLIP-seq
MIRT995956	hsa-miR-4784	CLIP-seq
MIRT995987	hsa-miR-4795-5p	CLIP-seq
MIRT995988	hsa-miR-485-3p	CLIP-seq
MIRT995957	hsa-miR-497	CLIP-seq
MIRT995989	hsa-miR-499-3p	CLIP-seq
MIRT995990	hsa-miR-499a-3p	CLIP-seq
MIRT995958	hsa-miR-577	CLIP-seq
MIRT995991	hsa-miR-631	CLIP-seq
MIRT995992	hsa-miR-802	CLIP-seq
MIRT995959	hsa-miR-921	CLIP-seq
MIRT995960	hsa-miR-939	CLIP-seq
MIRT995961	hsa-miR-98	CLIP-seq
MIRT995993	hsa-miR-133a	CLIP-seq
MIRT995994	hsa-miR-3192	CLIP-seq
MIRT995995	hsa-miR-3689a-3p	CLIP-seq
MIRT995996	hsa-miR-3689c	CLIP-seq
MIRT995997	hsa-miR-4314	CLIP-seq
MIRT995998	hsa-miR-4646-5p	CLIP-seq
MIRT995999	hsa-miR-4728-5p	CLIP-seq
MIRT995962	hsa-miR-1208	CLIP-seq
MIRT1556373	hsa-miR-1225-3p	CLIP-seq
MIRT1556374	hsa-miR-1915	CLIP-seq
MIRT1556375	hsa-miR-361-3p	CLIP-seq
MIRT1556376	hsa-miR-3918	CLIP-seq
MIRT1556377	hsa-miR-3943	CLIP-seq
MIRT1556378	hsa-miR-4260	CLIP-seq
MIRT1556379	hsa-miR-4283	CLIP-seq
MIRT1556380	hsa-miR-4420	CLIP-seq
MIRT1556381	hsa-miR-4489	CLIP-seq
MIRT1556382	hsa-miR-4492	CLIP-seq
MIRT1556383	hsa-miR-4498	CLIP-seq
MIRT1556384	hsa-miR-4505	CLIP-seq
MIRT1556385	hsa-miR-4685-5p	CLIP-seq
MIRT1556386	hsa-miR-4797-5p	CLIP-seq
MIRT1556387	hsa-miR-511	CLIP-seq
MIRT1556388	hsa-miR-762	CLIP-seq
MIRT1995356	hsa-miR-1262	CLIP-seq
MIRT995931	hsa-miR-15a	CLIP-seq
MIRT995932	hsa-miR-15b	CLIP-seq
MIRT995933	hsa-miR-16	CLIP-seq
MIRT1995357	hsa-miR-1909	CLIP-seq
MIRT995934	hsa-miR-195	CLIP-seq
MIRT995936	hsa-miR-214	CLIP-seq
MIRT1995358	hsa-miR-3652	CLIP-seq
MIRT995944	hsa-miR-424	CLIP-seq
MIRT1995359	hsa-miR-4430	CLIP-seq
MIRT1995360	hsa-miR-4493	CLIP-seq
MIRT1556384	hsa-miR-4505	CLIP-seq
MIRT1995361	hsa-miR-4675	CLIP-seq
MIRT1995362	hsa-miR-4701-3p	CLIP-seq
MIRT1995363	hsa-miR-4710	CLIP-seq
MIRT1995364	hsa-miR-4733-3p	CLIP-seq
MIRT1995365	hsa-miR-4741	CLIP-seq
MIRT1995366	hsa-miR-4768-5p	CLIP-seq
MIRT995957	hsa-miR-497	CLIP-seq
MIRT1995367	hsa-miR-545	CLIP-seq
MIRT1995368	hsa-miR-548p	CLIP-seq
MIRT1995369	hsa-miR-552	CLIP-seq
MIRT1995367	hsa-miR-545	CLIP-seq
MIRT1995356	hsa-miR-1262	CLIP-seq
MIRT1995361	hsa-miR-4675	CLIP-seq
MIRT1995362	hsa-miR-4701-3p	CLIP-seq
MIRT1995363	hsa-miR-4710	CLIP-seq
MIRT1995365	hsa-miR-4741	CLIP-seq
MIRT1995360	hsa-miR-4493	CLIP-seq
MIRT1995364	hsa-miR-4733-3p	CLIP-seq
MIRT1995367	hsa-miR-545	CLIP-seq
MIRT2449672	hsa-miR-122	CLIP-seq
MIRT995930	hsa-miR-1224-5p	CLIP-seq
MIRT1556373	hsa-miR-1225-3p	CLIP-seq
MIRT2449673	hsa-miR-130a	CLIP-seq
MIRT2449674	hsa-miR-130b	CLIP-seq
MIRT995936	hsa-miR-214	CLIP-seq
MIRT2449675	hsa-miR-301a	CLIP-seq
MIRT2449676	hsa-miR-301b	CLIP-seq
MIRT2449677	hsa-miR-3135b	CLIP-seq
MIRT1556375	hsa-miR-361-3p	CLIP-seq
MIRT1995358	hsa-miR-3652	CLIP-seq
MIRT2449678	hsa-miR-3666	CLIP-seq
MIRT1556377	hsa-miR-3943	CLIP-seq
MIRT2449679	hsa-miR-4295	CLIP-seq
MIRT1995359	hsa-miR-4430	CLIP-seq
MIRT2449680	hsa-miR-454	CLIP-seq
MIRT995954	hsa-miR-4751	CLIP-seq
MIRT1556386	hsa-miR-4797-5p	CLIP-seq
MIRT2449681	hsa-miR-652	CLIP-seq
MIRT995930	hsa-miR-1224-5p	CLIP-seq
MIRT995936	hsa-miR-214	CLIP-seq
MIRT995954	hsa-miR-4751	CLIP-seq
MIRT2533144	hsa-miR-1193	CLIP-seq
MIRT2533145	hsa-miR-1202	CLIP-seq
MIRT2533146	hsa-miR-1206	CLIP-seq
MIRT2533147	hsa-miR-1207-5p	CLIP-seq
MIRT2449672	hsa-miR-122	CLIP-seq
MIRT995930	hsa-miR-1224-5p	CLIP-seq
MIRT2533148	hsa-miR-1226	CLIP-seq
MIRT2533149	hsa-miR-1227	CLIP-seq
MIRT2533150	hsa-miR-1229	CLIP-seq
MIRT2533151	hsa-miR-124	CLIP-seq
MIRT2533152	hsa-miR-1254	CLIP-seq
MIRT2533153	hsa-miR-125a-5p	CLIP-seq
MIRT2533154	hsa-miR-125b	CLIP-seq
MIRT2533155	hsa-miR-1261	CLIP-seq
MIRT1995356	hsa-miR-1262	CLIP-seq
MIRT2533156	hsa-miR-1268	CLIP-seq
MIRT2533157	hsa-miR-1268b	CLIP-seq
MIRT2533158	hsa-miR-1273f	CLIP-seq
MIRT2533159	hsa-miR-1289	CLIP-seq
MIRT2533160	hsa-miR-1293	CLIP-seq
MIRT2533161	hsa-miR-129-3p	CLIP-seq
MIRT2533162	hsa-miR-129-5p	CLIP-seq
MIRT2533163	hsa-miR-1307	CLIP-seq
MIRT2449673	hsa-miR-130a	CLIP-seq
MIRT2449674	hsa-miR-130b	CLIP-seq
MIRT2533164	hsa-miR-1827	CLIP-seq
MIRT2533165	hsa-miR-185	CLIP-seq
MIRT1995357	hsa-miR-1909	CLIP-seq
MIRT995971	hsa-miR-1913	CLIP-seq
MIRT2533166	hsa-miR-1914	CLIP-seq
MIRT2533167	hsa-miR-1972	CLIP-seq
MIRT2533168	hsa-miR-1976	CLIP-seq
MIRT995936	hsa-miR-214	CLIP-seq
MIRT2533169	hsa-miR-216b	CLIP-seq
MIRT2533170	hsa-miR-217	CLIP-seq
MIRT2533171	hsa-miR-2467-3p	CLIP-seq
MIRT2533172	hsa-miR-2682	CLIP-seq
MIRT2449675	hsa-miR-301a	CLIP-seq
MIRT2449676	hsa-miR-301b	CLIP-seq
MIRT2533173	hsa-miR-3074-5p	CLIP-seq
MIRT2533174	hsa-miR-3115	CLIP-seq
MIRT2533175	hsa-miR-3116	CLIP-seq
MIRT2533176	hsa-miR-3126-3p	CLIP-seq
MIRT2449677	hsa-miR-3135b	CLIP-seq
MIRT2533177	hsa-miR-3137	CLIP-seq
MIRT2533178	hsa-miR-3150a-3p	CLIP-seq
MIRT995978	hsa-miR-3156-3p	CLIP-seq
MIRT2533179	hsa-miR-3156-5p	CLIP-seq
MIRT995938	hsa-miR-3162-3p	CLIP-seq
MIRT2533180	hsa-miR-3166	CLIP-seq
MIRT2533181	hsa-miR-3170	CLIP-seq
MIRT2533182	hsa-miR-3175	CLIP-seq
MIRT2533183	hsa-miR-3184	CLIP-seq
MIRT2533184	hsa-miR-3194-5p	CLIP-seq
MIRT2533185	hsa-miR-3198	CLIP-seq
MIRT995979	hsa-miR-324-3p	CLIP-seq
MIRT2533186	hsa-miR-326	CLIP-seq
MIRT2533187	hsa-miR-330-5p	CLIP-seq
MIRT2533188	hsa-miR-331-3p	CLIP-seq
MIRT2533189	hsa-miR-33a	CLIP-seq
MIRT2533190	hsa-miR-33b	CLIP-seq
MIRT2533191	hsa-miR-342-5p	CLIP-seq
MIRT2533192	hsa-miR-345	CLIP-seq
MIRT2533193	hsa-miR-34a	CLIP-seq
MIRT2533194	hsa-miR-34c-5p	CLIP-seq
MIRT2533195	hsa-miR-3614-5p	CLIP-seq
MIRT2533196	hsa-miR-3622a-5p	CLIP-seq
MIRT1995358	hsa-miR-3652	CLIP-seq
MIRT2533197	hsa-miR-3664-3p	CLIP-seq
MIRT2449678	hsa-miR-3666	CLIP-seq
MIRT2533198	hsa-miR-3714	CLIP-seq
MIRT2533199	hsa-miR-3972	CLIP-seq
MIRT2533200	hsa-miR-411	CLIP-seq
MIRT2533201	hsa-miR-423-5p	CLIP-seq
MIRT2533202	hsa-miR-4256	CLIP-seq
MIRT2533203	hsa-miR-4257	CLIP-seq
MIRT2533204	hsa-miR-4270	CLIP-seq
MIRT2533205	hsa-miR-4290	CLIP-seq
MIRT2533206	hsa-miR-4294	CLIP-seq
MIRT2449679	hsa-miR-4295	CLIP-seq
MIRT2533207	hsa-miR-4301	CLIP-seq
MIRT2533208	hsa-miR-4309	CLIP-seq
MIRT2533209	hsa-miR-4319	CLIP-seq
MIRT2533210	hsa-miR-4320	CLIP-seq
MIRT2533211	hsa-miR-4418	CLIP-seq
MIRT2533212	hsa-miR-4423-5p	CLIP-seq
MIRT1995359	hsa-miR-4430	CLIP-seq
MIRT2533213	hsa-miR-4438	CLIP-seq
MIRT2533214	hsa-miR-4441	CLIP-seq
MIRT2533215	hsa-miR-4456	CLIP-seq
MIRT2533216	hsa-miR-4459	CLIP-seq
MIRT2533217	hsa-miR-4476	CLIP-seq
MIRT2533218	hsa-miR-4481	CLIP-seq
MIRT2533219	hsa-miR-4483	CLIP-seq
MIRT2533220	hsa-miR-4490	CLIP-seq
MIRT1995360	hsa-miR-4493	CLIP-seq
MIRT2533221	hsa-miR-449a	CLIP-seq
MIRT2533222	hsa-miR-449b	CLIP-seq
MIRT2533223	hsa-miR-449c	CLIP-seq
MIRT2533224	hsa-miR-450b-5p	CLIP-seq
MIRT2533225	hsa-miR-4514	CLIP-seq
MIRT2533226	hsa-miR-4522	CLIP-seq
MIRT2449680	hsa-miR-454	CLIP-seq
MIRT2533227	hsa-miR-4633-3p	CLIP-seq
MIRT2533228	hsa-miR-4645-5p	CLIP-seq
MIRT2533229	hsa-miR-4651	CLIP-seq
MIRT2533230	hsa-miR-4664-5p	CLIP-seq
MIRT2533231	hsa-miR-4667-5p	CLIP-seq
MIRT2533232	hsa-miR-4673	CLIP-seq
MIRT1995361	hsa-miR-4675	CLIP-seq
MIRT2533233	hsa-miR-4687-5p	CLIP-seq
MIRT2533234	hsa-miR-4691-3p	CLIP-seq
MIRT2533235	hsa-miR-4692	CLIP-seq
MIRT2533236	hsa-miR-4700-5p	CLIP-seq
MIRT1995362	hsa-miR-4701-3p	CLIP-seq
MIRT1995363	hsa-miR-4710	CLIP-seq
MIRT2533237	hsa-miR-4715-3p	CLIP-seq
MIRT2533238	hsa-miR-4717-5p	CLIP-seq
MIRT2533239	hsa-miR-4718	CLIP-seq
MIRT2533240	hsa-miR-4722-3p	CLIP-seq
MIRT2533241	hsa-miR-4722-5p	CLIP-seq
MIRT2533242	hsa-miR-4727-5p	CLIP-seq
MIRT995999	hsa-miR-4728-5p	CLIP-seq
MIRT1995364	hsa-miR-4733-3p	CLIP-seq
MIRT2533243	hsa-miR-4736	CLIP-seq
MIRT2533244	hsa-miR-4737	CLIP-seq
MIRT2533245	hsa-miR-4738-5p	CLIP-seq
MIRT1995365	hsa-miR-4741	CLIP-seq
MIRT2533246	hsa-miR-4745-5p	CLIP-seq
MIRT995954	hsa-miR-4751	CLIP-seq
MIRT2533247	hsa-miR-4758-5p	CLIP-seq
MIRT2533248	hsa-miR-4762-3p	CLIP-seq
MIRT2533249	hsa-miR-4763-3p	CLIP-seq
MIRT2533250	hsa-miR-4768-3p	CLIP-seq
MIRT2533251	hsa-miR-4774-5p	CLIP-seq
MIRT2533252	hsa-miR-4775	CLIP-seq
MIRT2533253	hsa-miR-4778-3p	CLIP-seq
MIRT2533254	hsa-miR-486-3p	CLIP-seq
MIRT2533255	hsa-miR-490-5p	CLIP-seq
MIRT2533256	hsa-miR-503	CLIP-seq
MIRT2533257	hsa-miR-506	CLIP-seq
MIRT2533258	hsa-miR-507	CLIP-seq
MIRT2533259	hsa-miR-509-3-5p	CLIP-seq
MIRT2533260	hsa-miR-5095	CLIP-seq
MIRT2533261	hsa-miR-509-5p	CLIP-seq
MIRT2533262	hsa-miR-515-3p	CLIP-seq
MIRT2533263	hsa-miR-519e	CLIP-seq
MIRT2533264	hsa-miR-532-3p	CLIP-seq
MIRT2533265	hsa-miR-541	CLIP-seq
MIRT2533266	hsa-miR-544b	CLIP-seq
MIRT1995367	hsa-miR-545	CLIP-seq
MIRT2533267	hsa-miR-550a	CLIP-seq
MIRT1995369	hsa-miR-552	CLIP-seq
MIRT2533268	hsa-miR-555	CLIP-seq
MIRT2533269	hsa-miR-557	CLIP-seq
MIRT2533270	hsa-miR-590-3p	CLIP-seq
MIRT2533271	hsa-miR-608	CLIP-seq
MIRT2533272	hsa-miR-637	CLIP-seq
MIRT2449681	hsa-miR-652	CLIP-seq
MIRT2533273	hsa-miR-654-5p	CLIP-seq
MIRT2533274	hsa-miR-661	CLIP-seq
MIRT2533275	hsa-miR-665	CLIP-seq
MIRT2533276	hsa-miR-759	CLIP-seq
MIRT2533277	hsa-miR-873	CLIP-seq
MIRT2533278	hsa-miR-885-3p	CLIP-seq
MIRT995960	hsa-miR-939	CLIP-seq
MIRT2533279	hsa-miR-940	CLIP-seq
MIRT2533144	hsa-miR-1193	CLIP-seq
MIRT2533145	hsa-miR-1202	CLIP-seq
MIRT2533146	hsa-miR-1206	CLIP-seq
MIRT2449672	hsa-miR-122	CLIP-seq
MIRT995930	hsa-miR-1224-5p	CLIP-seq
MIRT2533148	hsa-miR-1226	CLIP-seq
MIRT2533150	hsa-miR-1229	CLIP-seq
MIRT2533151	hsa-miR-124	CLIP-seq
MIRT2533152	hsa-miR-1254	CLIP-seq
MIRT2533153	hsa-miR-125a-5p	CLIP-seq
MIRT2533154	hsa-miR-125b	CLIP-seq
MIRT2533155	hsa-miR-1261	CLIP-seq
MIRT1995356	hsa-miR-1262	CLIP-seq
MIRT2533156	hsa-miR-1268	CLIP-seq
MIRT2533157	hsa-miR-1268b	CLIP-seq
MIRT2533158	hsa-miR-1273f	CLIP-seq
MIRT2680973	hsa-miR-1286	CLIP-seq
MIRT2533159	hsa-miR-1289	CLIP-seq
MIRT2533161	hsa-miR-129-3p	CLIP-seq
MIRT2680974	hsa-miR-1294	CLIP-seq
MIRT2533162	hsa-miR-129-5p	CLIP-seq
MIRT2533163	hsa-miR-1307	CLIP-seq
MIRT2449673	hsa-miR-130a	CLIP-seq
MIRT2449674	hsa-miR-130b	CLIP-seq
MIRT2533164	hsa-miR-1827	CLIP-seq
MIRT2533165	hsa-miR-185	CLIP-seq
MIRT1995357	hsa-miR-1909	CLIP-seq
MIRT995971	hsa-miR-1913	CLIP-seq
MIRT2533167	hsa-miR-1972	CLIP-seq
MIRT2533168	hsa-miR-1976	CLIP-seq
MIRT995936	hsa-miR-214	CLIP-seq
MIRT2533169	hsa-miR-216b	CLIP-seq
MIRT2533170	hsa-miR-217	CLIP-seq
MIRT2533171	hsa-miR-2467-3p	CLIP-seq
MIRT2533172	hsa-miR-2682	CLIP-seq
MIRT2449675	hsa-miR-301a	CLIP-seq
MIRT2449676	hsa-miR-301b	CLIP-seq
MIRT2533173	hsa-miR-3074-5p	CLIP-seq
MIRT2533174	hsa-miR-3115	CLIP-seq
MIRT2533175	hsa-miR-3116	CLIP-seq
MIRT2533176	hsa-miR-3126-3p	CLIP-seq
MIRT2449677	hsa-miR-3135b	CLIP-seq
MIRT2533177	hsa-miR-3137	CLIP-seq
MIRT2533178	hsa-miR-3150a-3p	CLIP-seq
MIRT995978	hsa-miR-3156-3p	CLIP-seq
MIRT2533179	hsa-miR-3156-5p	CLIP-seq
MIRT995938	hsa-miR-3162-3p	CLIP-seq
MIRT2533180	hsa-miR-3166	CLIP-seq
MIRT2533181	hsa-miR-3170	CLIP-seq
MIRT2533182	hsa-miR-3175	CLIP-seq
MIRT2680975	hsa-miR-3176	CLIP-seq
MIRT2533183	hsa-miR-3184	CLIP-seq
MIRT2533184	hsa-miR-3194-5p	CLIP-seq
MIRT2533185	hsa-miR-3198	CLIP-seq
MIRT995979	hsa-miR-324-3p	CLIP-seq
MIRT2533186	hsa-miR-326	CLIP-seq
MIRT2533187	hsa-miR-330-5p	CLIP-seq
MIRT2533188	hsa-miR-331-3p	CLIP-seq
MIRT2533189	hsa-miR-33a	CLIP-seq
MIRT2533190	hsa-miR-33b	CLIP-seq
MIRT2533191	hsa-miR-342-5p	CLIP-seq
MIRT2533192	hsa-miR-345	CLIP-seq
MIRT2533193	hsa-miR-34a	CLIP-seq
MIRT2533194	hsa-miR-34c-5p	CLIP-seq
MIRT2533195	hsa-miR-3614-5p	CLIP-seq
MIRT2680976	hsa-miR-3617	CLIP-seq
MIRT2533196	hsa-miR-3622a-5p	CLIP-seq
MIRT1995358	hsa-miR-3652	CLIP-seq
MIRT2533197	hsa-miR-3664-3p	CLIP-seq
MIRT2449678	hsa-miR-3666	CLIP-seq
MIRT2533198	hsa-miR-3714	CLIP-seq
MIRT2680977	hsa-miR-3922-3p	CLIP-seq
MIRT2533199	hsa-miR-3972	CLIP-seq
MIRT2533200	hsa-miR-411	CLIP-seq
MIRT2533201	hsa-miR-423-5p	CLIP-seq
MIRT2533202	hsa-miR-4256	CLIP-seq
MIRT2533203	hsa-miR-4257	CLIP-seq
MIRT2533205	hsa-miR-4290	CLIP-seq
MIRT2533206	hsa-miR-4294	CLIP-seq
MIRT2449679	hsa-miR-4295	CLIP-seq
MIRT2533207	hsa-miR-4301	CLIP-seq
MIRT2533208	hsa-miR-4309	CLIP-seq
MIRT2680978	hsa-miR-4313	CLIP-seq
MIRT2533209	hsa-miR-4319	CLIP-seq
MIRT2533210	hsa-miR-4320	CLIP-seq
MIRT2533211	hsa-miR-4418	CLIP-seq
MIRT2533212	hsa-miR-4423-5p	CLIP-seq
MIRT1995359	hsa-miR-4430	CLIP-seq
MIRT2533216	hsa-miR-4459	CLIP-seq
MIRT2533217	hsa-miR-4476	CLIP-seq
MIRT2533218	hsa-miR-4481	CLIP-seq
MIRT2533220	hsa-miR-4490	CLIP-seq
MIRT1995360	hsa-miR-4493	CLIP-seq
MIRT2533221	hsa-miR-449a	CLIP-seq
MIRT2533222	hsa-miR-449b	CLIP-seq
MIRT2533223	hsa-miR-449c	CLIP-seq
MIRT2533224	hsa-miR-450b-5p	CLIP-seq
MIRT2533225	hsa-miR-4514	CLIP-seq
MIRT2533226	hsa-miR-4522	CLIP-seq
MIRT2449680	hsa-miR-454	CLIP-seq
MIRT2533228	hsa-miR-4645-5p	CLIP-seq
MIRT2533229	hsa-miR-4651	CLIP-seq
MIRT2533230	hsa-miR-4664-5p	CLIP-seq
MIRT2533231	hsa-miR-4667-5p	CLIP-seq
MIRT2533232	hsa-miR-4673	CLIP-seq
MIRT1995361	hsa-miR-4675	CLIP-seq
MIRT2533233	hsa-miR-4687-5p	CLIP-seq
MIRT2533234	hsa-miR-4691-3p	CLIP-seq
MIRT2533235	hsa-miR-4692	CLIP-seq
MIRT2533236	hsa-miR-4700-5p	CLIP-seq
MIRT1995362	hsa-miR-4701-3p	CLIP-seq
MIRT1995363	hsa-miR-4710	CLIP-seq
MIRT2533237	hsa-miR-4715-3p	CLIP-seq
MIRT2533238	hsa-miR-4717-5p	CLIP-seq
MIRT2533239	hsa-miR-4718	CLIP-seq
MIRT2533240	hsa-miR-4722-3p	CLIP-seq
MIRT2533241	hsa-miR-4722-5p	CLIP-seq
MIRT2533242	hsa-miR-4727-5p	CLIP-seq
MIRT995999	hsa-miR-4728-5p	CLIP-seq
MIRT1995364	hsa-miR-4733-3p	CLIP-seq
MIRT2533244	hsa-miR-4737	CLIP-seq
MIRT2533245	hsa-miR-4738-5p	CLIP-seq
MIRT1995365	hsa-miR-4741	CLIP-seq
MIRT2533246	hsa-miR-4745-5p	CLIP-seq
MIRT995954	hsa-miR-4751	CLIP-seq
MIRT2533247	hsa-miR-4758-5p	CLIP-seq
MIRT2533248	hsa-miR-4762-3p	CLIP-seq
MIRT2533250	hsa-miR-4768-3p	CLIP-seq
MIRT2533251	hsa-miR-4774-5p	CLIP-seq
MIRT2533252	hsa-miR-4775	CLIP-seq
MIRT2533253	hsa-miR-4778-3p	CLIP-seq
MIRT2533254	hsa-miR-486-3p	CLIP-seq
MIRT2680979	hsa-miR-490-3p	CLIP-seq
MIRT2533255	hsa-miR-490-5p	CLIP-seq
MIRT2533256	hsa-miR-503	CLIP-seq
MIRT2533257	hsa-miR-506	CLIP-seq
MIRT2533258	hsa-miR-507	CLIP-seq
MIRT2533259	hsa-miR-509-3-5p	CLIP-seq
MIRT2533261	hsa-miR-509-5p	CLIP-seq
MIRT2533262	hsa-miR-515-3p	CLIP-seq
MIRT2533263	hsa-miR-519e	CLIP-seq
MIRT2533264	hsa-miR-532-3p	CLIP-seq
MIRT2533265	hsa-miR-541	CLIP-seq
MIRT2533266	hsa-miR-544b	CLIP-seq
MIRT1995367	hsa-miR-545	CLIP-seq
MIRT2533267	hsa-miR-550a	CLIP-seq
MIRT1995369	hsa-miR-552	CLIP-seq
MIRT2533268	hsa-miR-555	CLIP-seq
MIRT2533269	hsa-miR-557	CLIP-seq
MIRT2533270	hsa-miR-590-3p	CLIP-seq
MIRT2533271	hsa-miR-608	CLIP-seq
MIRT2533272	hsa-miR-637	CLIP-seq
MIRT2680980	hsa-miR-641	CLIP-seq
MIRT2449681	hsa-miR-652	CLIP-seq
MIRT2533273	hsa-miR-654-5p	CLIP-seq
MIRT2533274	hsa-miR-661	CLIP-seq
MIRT2533275	hsa-miR-665	CLIP-seq
MIRT2533276	hsa-miR-759	CLIP-seq
MIRT2533277	hsa-miR-873	CLIP-seq
MIRT2533278	hsa-miR-885-3p	CLIP-seq
MIRT995960	hsa-miR-939	CLIP-seq
MIRT2533279	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	19303924
KLF10	Repression	23569208
RB1	Repression	19303924
SP1	Unknown	23569208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000165	Process	MAPK cascade	TAS	10748122
GO:0000166	Function	Nucleotide binding	IEA
GO:0001501	Process	Skeletal system development	TAS	7874169
GO:0001525	Process	Angiogenesis	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001759	Process	Organ induction	IEA
GO:0001764	Process	Neuron migration	TAS	15863030
GO:0001837	Process	Epithelial to mesenchymal transition	IMP	26451614
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	8622701
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005007	Function	Fibroblast growth factor receptor activity	IBA
GO:0005007	Function	Fibroblast growth factor receptor activity	IDA	18480409, 20133753
GO:0005007	Function	Fibroblast growth factor receptor activity	IEA
GO:0005007	Function	Fibroblast growth factor receptor activity	TAS	2167437, 10748122
GO:0005515	Function	Protein binding	IPI	1656221, 8321198, 8753773, 9660748, 10490103, 10830168, 11030354, 11401320, 14613973, 17086194, 18412956, 18441324, 19665973, 19696444, 19966287, 20932831, 21765395, 22035699, 22751148, 22939624, 23063561, 23597562, 23597563, 24157794, 25241761, 25485703, 26267536, 31980649, 3281405
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	NAS	1652059
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18480409
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10918587
GO:0006468	Process	Protein phosphorylation	NAS	1846977, 2159626
GO:0007420	Process	Brain development	IEA
GO:0007435	Process	Salivary gland morphogenesis	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008201	Function	Heparin binding	IDA	18480409
GO:0008201	Function	Heparin binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	8663044
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IGI	8663044
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	8622701
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IDA	8663044, 18480409, 21885851
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IGI	8663044
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IPI	10830168
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS	10748122, 22235191
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010518	Process	Positive regulation of phospholipase activity	TAS	12141425
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010966	Process	Regulation of phosphate transport	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	1652059, 1846977, 2159626
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	TAS	15863030
GO:0016740	Function	Transferase activity	IEA
GO:0017134	Function	Fibroblast growth factor binding	IBA
GO:0017134	Function	Fibroblast growth factor binding	IDA	8663044, 18480409
GO:0017134	Function	Fibroblast growth factor binding	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	8622701
GO:0021769	Process	Orbitofrontal cortex development	IEA
GO:0021847	Process	Ventricular zone neuroblast division	IEA
GO:0030031	Process	Cell projection assembly	IEA
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035607	Process	Fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	IEA
GO:0042169	Function	SH2 domain binding	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042473	Process	Outer ear morphogenesis	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IPI	19696444, 20133753
GO:0042803	Function	Protein homodimerization activity	IPI	20133753
GO:0043009	Process	Chordate embryonic development	TAS	15863030
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043406	Process	Positive regulation of MAP kinase activity	IDA	8622701
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IGI	26451614
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	8622701
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IGI	23263626
GO:0043583	Process	Ear development	IEA
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IDA	21885851
GO:0045595	Process	Regulation of cell differentiation	TAS	12141425
GO:0045597	Process	Positive regulation of cell differentiation	IBA
GO:0045666	Process	Positive regulation of neuron differentiation	IMP	8622701
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0046777	Process	Protein autophosphorylation	IDA	8622701
GO:0048015	Process	Phosphatidylinositol-mediated signaling	TAS	12141425
GO:0048339	Process	Paraxial mesoderm development	IEA
GO:0048378	Process	Regulation of lateral mesodermal cell fate specification	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0048699	Process	Generation of neurons	IEA
GO:0048699	Process	Generation of neurons	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	TAS	15863030
GO:0048762	Process	Mesenchymal cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0051174	Process	Regulation of phosphorus metabolic process	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	26451614
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	15863030
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060117	Process	Auditory receptor cell development	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0060484	Process	Lung-associated mesenchyme development	IEA
GO:0060665	Process	Regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	IEA
GO:0070640	Process	Vitamin D3 metabolic process	IEA
GO:0071344	Process	Diphosphate metabolic process	IEA
GO:0071529	Process	Cementum mineralization	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0090080	Process	Positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA
GO:0090272	Process	Negative regulation of fibroblast growth factor production	IEA
GO:0090722	Function	Receptor-receptor interaction	IDA	24157794
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099151	Process	Regulation of postsynaptic density assembly	IEA
GO:1903465	Process	Positive regulation of mitotic cell cycle DNA replication	IEA
GO:1904383	Process	Response to sodium phosphate	IEA
GO:1905564	Process	Positive regulation of vascular endothelial cell proliferation	IGI	23263626
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2000830	Process	Positive regulation of parathyroid hormone secretion	IEA
GO:2001028	Process	Positive regulation of endothelial cell chemotaxis	IDA	21885851
GO:2001239	Process	Regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

Other IDs

• MIM: 136350
• HGNC: 3688
• e!Ensembl: ENSG00000077782

Protein

• UniProt ID: P11362
• Protein name: Fibroblast growth factor receptor 1 (FGFR-1) (EC 2.7.10.1) (Basic fibroblast growth factor receptor 1) (BFGFR) (bFGF-R-1) (Fms-like tyrosine kinase 2) (FLT-2) (N-sam) (Proto-oncogene c-Fgr) (CD antigen CD331)
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm pa
• PDB: 1AGW, 1CVS, 1EVT, 1FGI, 1FGK, 1FQ9, 1XR0, 2CR3, 2FGI, 3C4F, 3DPK, 3GQI, 3GQL, 3JS2, 3KRJ, 3KRL, 3KXX, 3KY2, 3OJV, 3RHX, 3TT0, 4F63, 4F64, 4F65, 4NK9, 4NKA, 4NKS, 4RWI, 4RWJ, 4RWK, 4RWL, 4UWB, 4UWC, 4UWY, 4V01, 4V04, 4V05, 4WUN, 4ZSA, 5A46, 5A4C, 5AM6, 5AM7, 5B7V, 5EW8, 5FLF, 5O49, 5O4A, 5UQ0, 5UR1, 5VND
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00047	ig	38 → 116	Immunoglobulin domain	Domain
  PF07679	I-set	160 → 247	Immunoglobulin I-set domain	Domain
  PF07679	I-set	259 → 358	Immunoglobulin I-set domain	Domain
  PF18123	FGFR3_TM	370 → 400	Fibroblast growth factor receptor 3 transmembrane domain	Domain
  PF07714	PK_Tyr_Ser-Thr	478 → 754	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in astrocytoma, neuroblastoma and adrenal cortex cell lines. Some isoforms are detected in foreskin fibroblast cell lines, however isoform 17, isoform 18 and isoform 19 are not detected in these cells. {ECO:0000269|PubMed:1652
• Sequence:

  MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDD
  VQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSD
  ALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPS
  SGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSIN
  HTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKI
  GPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLE
  ALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKS
  IPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVL
  GKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGK
  HKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDL
  VSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNG
  RLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMD
  KPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSF
  PDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR

• Sequence length: 822

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
Cerebellar vermis hypoplasia	Likely pathogenic; Pathogenic	rs1563436265	RCV000779636	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1563436265	RCV001257986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed puberty	Likely pathogenic; Pathogenic	rs727505370, rs727505371, rs727505373, rs121909628, rs121909636	RCV000156956 RCV000156958 RCV000156962 RCV000156954 RCV000156950	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diffuse midline glioma, H3 K27M-mutant	Pathogenic	rs779707422, rs869320694	RCV006253899 RCV006253907	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs779707422	RCV006253898	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysembryoplastic neuroepithelial tumor	Pathogenic	rs779707422, rs869320694	RCV006253901 RCV006253908	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Pathogenic	rs779707422	RCV006253897	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocraniocutaneous lipomatosis	Pathogenic	rs779707422, rs869320694, rs1816433701	RCV000210485 RCV000210479 RCV001199033	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FGFR1-related disorder	Likely pathogenic; Pathogenic	rs776264072, rs727505376, rs876661334, rs2150521592, rs2537262005, rs121909627, rs121909635, rs121909640, rs1554570706, rs1554564353, rs886037634, rs397515446	RCV005419218 RCV004535018 RCV004782316 RCV004529615 RCV004536721 RCV005229812 RCV004528116 RCV004724747 RCV004527604 RCV004533453 RCV004537181 RCV004739327	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hartsfield-Bixler-Demyer syndrome	Likely pathogenic; Pathogenic	rs2150548677, rs515726224, rs869025670, rs876661332, rs1554551657, rs1554551667, rs1554548253, rs780009859, rs1563433902, rs1563436265, rs398122945, rs397515481, rs398122946	RCV001809020 RCV000591024 RCV000208875 RCV000223739 RCV000591018 RCV000591009 RCV000614143 RCV000625696 RCV000710044 RCV000779636 RCV000056313 RCV000056314 RCV000056315	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
High-grade astrocytoma with piloid features	Pathogenic	rs869320694	RCV006253906	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Holoprosencephaly sequence	Likely pathogenic; Pathogenic	rs876661335, rs528376963	RCV000223865 RCV000608240	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs2150863079, rs121909628, rs2150754427	RCV004783050 RCV005252688 RCV004783140	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 2 with anosmia	Pathogenic; Likely pathogenic	rs121909630, rs121909638, rs121909639, rs121909642, rs886037634, rs397515446	RCV000030929 RCV000030933 RCV000030934 RCV000030937 RCV000043588 RCV000043591	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadotropic hypogonadism 2 with or without anosmia	Likely pathogenic; Pathogenic	rs1586314855, rs2150757205, rs2150533516, rs2150758220, rs2150655456, rs776264072, rs2150826896, rs2150565807, rs515726223, rs515726224, rs515726225, rs2150705198, rs2150866757, rs2536816928, rs727505377, rs727505376, rs727505370, rs727505371, rs727505373, rs2537263906, rs2536819756, rs2537260821, rs2537271517, rs2537141455, rs2537101947, rs2536805437, rs2536893785, rs2150548391, rs876661334, rs2537195567, rs2537268171, rs2537257570, rs2537194228, rs2150911849, rs1400969239, rs2150813223, rs2537020226, rs2537019323, rs2150751795, rs2536965692, rs2150680264, rs2536930338, rs2536928420, rs2536926716, rs2536912033, rs2150647514, rs2150631395, rs1554551706, rs2536855900, rs2150591547, rs2536853592, rs2150586919, rs377314381, rs2150581545, rs1554548434, rs2536817156, rs1489129465, rs2536804249, rs2536789999, rs2536777334, rs2536775494, rs2150512605, rs2150863079, rs2150862151, rs2150859908, rs2150859323, rs2150825999, rs1820085287, rs2537101266, rs2150755633, rs2150755088, rs2150680046, rs2150582700, rs2150581560, rs2536819511, rs1260404537, rs2150550526, rs1057520536, rs2150521749, rs2150521592, rs2536775368, rs2537841227, rs2150967659, rs2537272542, rs2150964621, rs2150537863, rs2150751821, rs2536891736, rs2536850855, rs2536817757, rs2536817689, rs2536788775, rs2150914598, rs2150857240, rs2536820437, rs2536775609, rs2537261425, rs2536914781, rs121909627, rs121909628, rs121909634, rs121909635, rs267606805, rs121909636, rs121909638, rs121909639, rs121909640, rs121909643, rs121909645, rs2150552237, rs869025670, rs1060499663, rs1554570706, rs1554552774, rs1554570813, rs1554564353, rs1554594114, rs886037634, rs397515446, rs376416531, rs1586083500, rs1586375906, rs1817280576, rs1817052708, rs1816367128, rs1816366242, rs1818930617, rs1820048488, rs561300213, rs1815805060, rs1815455535	RCV001375868 RCV001387445 RCV001542472 RCV003234577 RCV001807932 RCV002541949 RCV001837164 RCV001837165 RCV000119058 RCV000119059 RCV000119060 RCV001931031 RCV001998653 RCV002289165 RCV003234550 RCV001251086 RCV003234547 RCV003234548 RCV003234549 RCV003775482 RCV003062160 RCV003037292 RCV002824004 RCV002829268 RCV002880767 RCV002982719 RCV003016646 RCV003014891 RCV000995547 RCV003140621 RCV003234642 RCV003234643 RCV003234644 RCV003234645 RCV003234646 RCV003234647 RCV003234648 RCV003234649 RCV003234650 RCV003234651 RCV003234652 RCV003234653 RCV003234654 RCV003234655 RCV003234656 RCV003234657 RCV003234658 RCV003234659 RCV003234660 RCV003234661 RCV003234662 RCV003234663 RCV003234664 RCV003234665 RCV003234666 RCV003234667 RCV003234668 RCV003234669 RCV003234670 RCV003234671 RCV003234672 RCV003234673 RCV003234674 RCV003234675 RCV003234679 RCV003234680 RCV003234683 RCV003234684 RCV003234685 RCV003234686 RCV003234688 RCV003234694 RCV003234696 RCV003234703 RCV003234707 RCV003234710 RCV003234711 RCV003234713 RCV003234714 RCV003234721 RCV003234722 RCV003234723 RCV003234725 RCV003234727 RCV003234728 RCV003234729 RCV003234730 RCV003781088 RCV003781089 RCV003782688 RCV003806844 RCV003800471 RCV003804662 RCV003804665 RCV003804839 RCV003817675 RCV003815721 RCV003809639 RCV003815480 RCV003807310 RCV003807496 RCV003812763 RCV000644520 RCV000030926 RCV002514106 RCV000017684 RCV003234554 RCV000030931 RCV003234536 RCV003764580 RCV000017691 RCV000030938 RCV000030940 RCV003988714 RCV002524730 RCV000449624 RCV000704507 RCV000503490 RCV000552321 RCV000644518 RCV000662313 RCV000662312 RCV001542473 RCV003234545 RCV000810317 RCV000851573 RCV001004069 RCV001068950 RCV001221361 RCV001281296 RCV001251087 RCV001251089 RCV001251090 RCV001251092 RCV001251093 RCV001251088 RCV003234574 RCV001293690	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadotropic hypogonadism 7 with or without anosmia	Likely pathogenic; Pathogenic	rs727505377, rs727505376, rs727505370, rs727505371, rs727505373, rs121909628	RCV000156969 RCV000156967 RCV000156955 RCV000156957 RCV000156961 RCV000156953	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jackson-Weiss syndrome	Pathogenic	rs121909627	RCV000017670	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lobar holoprosencephaly	Pathogenic	rs121909645	RCV000223933	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Low grade glioma	Pathogenic	rs869320694	RCV006253904	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant glioma	Pathogenic	rs869320694	RCV006253905	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microform holoprosencephaly	Likely pathogenic	rs876661333	RCV000223914	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs779707422, rs869320694	RCV004668850 RCV006273640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Pathogenic	rs779707422	RCV006253896	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoglophonic dysplasia	Likely pathogenic; Pathogenic	rs121909634, rs1586287963, rs1586172462	RCV000017682 RCV000787327 RCV000988049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pfeiffer syndrome	Pathogenic; Likely pathogenic	rs2150757205, rs776264072, rs2150705198, rs2150866757, rs727505376, rs727505371, rs2537263906, rs2536819756, rs2537260821, rs2537271517, rs2537141455, rs2537101947, rs2536805437, rs2536893785, rs2150548391, rs876661334, rs2150825999, rs2150537863, rs2150751821, rs2536891736, rs1554548434, rs2536850855, rs2536817757, rs2536817689, rs2536788775, rs2150914598, rs2150857240, rs2536820437, rs2536775609, rs2537261425, rs2150751795, rs2536914781, rs121909627, rs121909628, rs121909634, rs121909639, rs121909645, rs2150920571, rs869025670, rs1554570706, rs1554552774, rs1554570813, rs397515446, rs376416531, rs1817280576, rs1817052708, rs1260404537	RCV001387445 RCV002541949 RCV001931031 RCV001998653 RCV005222785 RCV002515041 RCV003775482 RCV003062160 RCV003037292 RCV002824004 RCV002829268 RCV002880767 RCV002982719 RCV003016646 RCV003014891 RCV003765451 RCV005227951 RCV005227952 RCV003781088 RCV003781089 RCV003782688 RCV003806844 RCV003800471 RCV003804662 RCV003804665 RCV003804839 RCV003817675 RCV003815721 RCV003809639 RCV003815480 RCV003807310 RCV003807496 RCV003812763 RCV000017669 RCV002513084 RCV002514106 RCV003764580 RCV002514107 RCV004546880 RCV002524730 RCV000704507 RCV000552321 RCV000644518 RCV005222729 RCV000810317 RCV001068950 RCV001221361 RCV003770305	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilocytic astrocytoma	Pathogenic	rs869320694	RCV006253902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilomyxoid astrocytoma	Pathogenic	rs869320694	RCV001849345	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary intracranial sarcoma, DICER1-mutant	Pathogenic	rs779707422	RCV006253900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rosette-forming glioneuronal tumor	Pathogenic	rs779707422, rs869320694	RCV000487433 RCV006253903	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Semilobar holoprosencephaly	Likely pathogenic; Pathogenic	rs876661334	RCV000223775	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amenorrhea	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, nonspecific	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FGFR1-related craniosynostosis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIANT CELL GLIOBLASTOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOSARCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP-PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism with anosmia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERFRONTAL CRANIOFACIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Martsolf syndrome 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mendelian syndromes with cleft lip/palate	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic metopic craniosynostosis	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFTING SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGLOPHONIC DWARFISM	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGLOSPHONIC DYSPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfeiffer syndrome type 1	Uncertain significance	ClinVar ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PFEIFFER TYPE ACROCEPHALOSYNDACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPEREOSINOPHILIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTO-OPTIC DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTO-OPTIC DYSPLASIA SPECTRUM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOOPTIC DYSPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIGONOCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigonocephaly 1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, HPO ClinVar, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	14987407		★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	20554971, 23171834, 29119847		★☆☆☆☆ Found in Text Mining only
Acute lymphoblastic leukemia with lymphomatous features	Lymphoblastic Leukemia With Lymphomatous Features	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21810092, 23609419, 28551329, 29735550		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	1311927		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	17394134, 27005999		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	23609419		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	20143402		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	10206481		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	15674361		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	30413411		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11562460, 17478553, 18829480, 22648708, 22684217, 22864788, 23082000, 23806793, 24183471, 24255716, 24771645, 24853178, 25086725, 25477232, 26239623, 26555375, 27194548, 27901003, 30639621		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18829480		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	30980524		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	18829480, 21666749, 24183471, 27194548, 27940520, 29281903, 30639621		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	12127120		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	18068632		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	29159601, 30875802		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28972963		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	28972963, 34956100	Associate	★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	27862886		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	25089825, 31066955		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	16188231, 31449793		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28377480		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	30891959	Associate	★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY	Oxoglutaricaciduria	BEFREE	28387648		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	21666686, 23696246		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	7539161	Associate	★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	29453876		★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	21247312	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplasia	Anaplasia	BEFREE	16996573		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	Pubtator	29610389	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	28178124		★☆☆☆☆ Found in Text Mining only
Ankylosis of the elbow joint	Elbow ankylosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	17318851, 18790474, 23533228, 26199944, 29893310, 31748124, 37833774	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29987671		★☆☆☆☆ Found in Text Mining only
Anosmia	Anosmia	Pubtator	16606836, 20139426	Associate	★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	17552943, 9279753		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28377480		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita with Epibulbar Dermoids	Aplasia cutis congenita with epibulbar dermoids	Pubtator	30891959	Associate	★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26517696, 30125282		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28877850		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12697740	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20727150	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28599074	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10498824, 23583981, 25664944, 30931252, 7964981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	26083571, 28468611, 29610389, 32859279, 33448156, 35018490, 36264505	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	26517696, 30125282		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	15674361		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	39391879	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29562785		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10386468, 11517011, 24385678		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	BEFREE	20389169		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19204725, 20615089, 22989054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	22989054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15273729		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19458078, 20889570, 27259667, 27669755		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	27283163, 28551329		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	23533228	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	27415155	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	25970776, 29159601, 35018490, 35616216, 37870438	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	27791984, 29159601, 31173478		★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10086345, 10366448, 14729606, 15527903, 16446704, 17121884, 17397528, 17640550, 18310279, 19601767, 20024612, 20179196, 20501844, 22124578, 22665522, 22863309, 23185502, 23270564, 23658459, 24618085, 26201468, 26279296, 26673008, 26762307, 26801869, 27371729, 27988457, 28125801, 28433771, 28751448, 28968431, 29132384, 29561195, 29970903, 29996114, 30128822, 30359238, 30487650, 30713601, 30866584, 31620934, 31841196, 7927944		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20179196, 21936542		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10604729, 11786412, 16446704, 17157792, 17397528, 19706770, 20179196, 20473280, 22665522, 22863309, 23151501, 23270564, 24811890, 25686244, 25927147, 26008969, 26238439, 26430163, 26673008, 26801869, 27028851, 27126994, 27993329, 28125801, 28794284, 29996114, 30119151, 30252041, 30745300, 30866584, 31371343, 31619444, 31929516, 31990579, 32091409, 32348852, 32381997, 32811538, 32852708, 33000910, 33007330, 33019728, 33082214, 33191115, 33579347, 34011560, 34831231, 35562750, 36083147, 36088510, 36470901, 36778115, 37145128, 37304675, 37569547, 37925055, 9400937	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	33783288, 38189813	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	38369186	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	22864788		★☆☆☆☆ Found in Text Mining only
Bronchitis Chronic	Bronchitis	Pubtator	16510460	Associate	★☆☆☆☆ Found in Text Mining only
Bronchomalacia	Bronchomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	BEFREE	26199944		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	36555181	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24045665, 25686244, 29996114, 30383875, 33783288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11764380, 15558020, 21666749, 22684217, 22863309, 23270564, 26555375, 27194548		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	27491809	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20653060, 23785399, 26069105, 27714806, 27862334, 29487225, 32161315, 32378800, 32572027, 35770048, 35812416	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	22863309, 31734230	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	23151501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	24853178, 30978501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	33441174	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	28359267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11389083, 15273729, 19458078, 20889570, 27259667, 27669755		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29299828		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22179561, 22648708, 23082000, 23563700, 23696246, 24183471, 24302556, 24762544, 24771645, 25918980, 26359452, 26549034, 26936993, 27194548, 27245147, 27338794, 28418088, 28483948, 28630215, 28765892, 28968756, 29281903, 29452146, 29858603, 30123084, 30146263, 30297175, 30639621, 30972293, 31492847		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33390837, 33581689, 34061869, 35963908	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24817936, 25900027, 39334021	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	28951314	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21666749, 22684217, 23154548, 23619603, 24077455, 24255716, 24853178, 25384882, 26555375, 26617686, 27145277, 28008744, 28483948, 28558758, 29351293, 29553868, 30978501, 31481045, 32326908, 32596330, 33219256, 34943871, 35461050, 37249797, 37909331	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20595807, 25919378, 27812884		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31409615		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	39762845	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	36227956	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	23643382, 25394172, 26720605, 28195315, 28754744		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	26942290		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	26942290, 35149534	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	17235395, 33579347	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28222148, 28963051, 31082455, 31728010, 31816825		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27844252, 28963051, 29043002, 30739275, 31243840		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	24204987	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Childhood Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	27862886		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28255027		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28255027, 28445152, 31351075, 32596330, 36190545, 36462464	Associate	★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	27443518		★☆☆☆☆ Found in Text Mining only
Chondroma	Chondroma	BEFREE	31273315		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	11140704	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	25735814		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	19407855		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	11764380		★☆☆☆☆ Found in Text Mining only
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME	8p11 Myeloproliferative Syndrome	BEFREE	10486218, 11919391, 15800673, 16781478, 17351342, 20143402, 21527531, 21937681, 22781593, 28646488, 29720732, 29735550, 30413411, 30439482, 31221776, 31628193		★☆☆☆☆ Found in Text Mining only
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME	8p11 Myeloproliferative Syndrome	ORPHANET_DG	23489324		★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	18032976, 20191332		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	20150940		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	10480903, 10688839, 11122115, 11739186, 11746971, 11919391, 12393597, 12969958, 14672707, 15448205, 15870860, 16777224, 17321332, 17383090, 17698633, 18096225, 19472396, 20191332, 20626469, 21431636, 21745565, 22619110, 23554904, 23609419, 23751892, 23904402, 24551307, 24658090, 25037443, 25803811, 28551329, 29107667, 9499416, 9576949		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30115538		★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	36190545	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	28640125		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	16606836, 24589633, 26199944	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	31262291	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	25738174		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30928883		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36229517	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32420374	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19082464, 24135816, 24616020, 25010701, 25691251, 26088290, 31096734		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	19082464		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24135816, 25010701, 31096734, 31782259, 32202509	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	33186471	Associate	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	23657145, 32853167	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	28825856	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	15001591		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	16757108		★☆☆☆☆ Found in Text Mining only
Congenital anosmia	Congenital anosmia	Pubtator	29255181	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12694254, 20226962, 26391436, 26661925, 29344217		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	26826125, 31351075		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hand Deformities	Congenital anomaly of the hand	BEFREE	31748124		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	30787001		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	27055092		★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	16882753, 25394172		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	28825856		★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	BEFREE	19489874		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31577975		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24817936		★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26517696		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32971215	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	28129408	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial Dysostosis	Craniofacial Dysostosis	BEFREE	27683237		★☆☆☆☆ Found in Text Mining only
Craniofacial dysostosis type 1	Craniofacial Dysostosis	GENOMICS_ENGLAND_DG	12627230		★☆☆☆☆ Found in Text Mining only
Craniofacial dysostosis type 1	Craniofacial Dysostosis	BEFREE	27683237		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	14629875, 15625620, 24578066, 26910679, 28129408, 32510873, 9279753, 9682222, 9784595	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	10394936, 10447608, 10751173, 10942429, 10951518, 11074486, 12244552, 12627230, 24578066, 27683237, 28129408, 28411082, 29215649, 29392564, 7719345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	GENOMICS_ENGLAND_DG	15625620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	LHGDN	17414280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30900526		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	18160472, 20389169, 21664240, 25394172		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	27561106	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Gyrata Syndrome of Beare And Stevenson	FGFR2-Related Craniosynostosis	GENOMICS_ENGLAND_DG	12627230		★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12697740, 22833219, 27041213, 30201491, 31297857		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	16876430		★☆☆☆☆ Found in Text Mining only
Depression, Neurotic	Mental Depression	CTD_human_DG	16861106		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	14695195, 19204725, 22361116, 23261523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	CTD_human_DG	16861106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	29066953, 29865267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	23261523	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive Syndrome	Mental Depression	CTD_human_DG	16861106		★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	15001591, 16418210, 16606836, 17200176, 20536592, 29280744, 31748124		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28825856	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31082455		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31082455		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29472102	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22174314, 28413172, 29472102		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	37270847	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	39285472	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23594707		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	32853167	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysembryoplastic neuroepithelial tumor	Dysembryoplastic Neuroepithelial Tumor	BEFREE	26920151		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysmorphic features	Dysmorphic Features	BEFREE	24127277		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	BEFREE	23812909		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	23812909, 28825856, 31748124	Associate	★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous Lipomatosis	UNIPROT_DG	19224897, 26942290		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous Lipomatosis	GENOMICS_ENGLAND_DG	23812909, 28825856		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous Lipomatosis	BEFREE	26942290, 29683947, 30428736, 31173478		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous Lipomatosis	ORPHANET_DG	26942290		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous lipomatosis	Pubtator	26942290, 31649234	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous Lipomatosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous Lipomatosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous Lipomatosis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endocrine System Diseases	Endocrine system disease	Pubtator	26801869, 34011560	Associate	★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	16861106		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30031900		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16681770, 32596330	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	11919391, 16781488, 18295660, 18566537, 20143402, 20191332, 20615084, 23609419, 29173361		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	19472396, 20143402, 21705501, 22926771, 32649766, 33990705, 34533850, 36698221, 40474715, 40582839	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	28468611, 31660579, 31673897		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	26083571, 36264505	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31218776		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	20163722	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	26555375		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26555375, 27317650	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25537505, 27317650, 27956804, 29866946	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	26179511		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	18231572		★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	26259677		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30250515		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	27791984, 31673897		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	26239623		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	25673643, 27974047, 30887595		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27974047, 30887595, 31948066	Associate	★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Generalized enlarged lymph nodes	Enlarged Lymph Nodes	BEFREE	16777224		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	22684217	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	ORPHANET_DG	22837387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant cell glioblastoma	Giant Cell Glioblastoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	10488155, 10498824, 10728679, 15333583, 18362893, 22903848, 23696246, 26896280, 30167084, 30909436, 31416846, 31434712, 7964981, 8168112		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	16186508, 18790757		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18362893, 19224897, 21691733, 33824275, 34875133, 39682716	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10488155, 10498824, 10728679, 15333583, 18362893, 22837387, 22903848, 23696246, 26896280, 30167084, 30909436, 31416846		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22903848, 29750313, 30931252, 8177381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	23583981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	31038238, 35018490, 35344029, 35484611, 36462464, 37524847, 38066305	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
gliosarcoma	Gliosarcoma	ORPHANET_DG	22837387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gliosarcoma	Gliosarcoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Grade I Astrocytoma	Grade I Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	25716730	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	11781872, 33299522	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	29562785		★☆☆☆☆ Found in Text Mining only
Hartsfield syndrome	Hartsfield Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	35720300	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34440300	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31577975		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	30008375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart valve disease	Cardiac valvular disease	CTD_human_DG	30008375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioma	Hemangioma	BEFREE	28928430		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	15050910, 21527531, 23400675, 23489324, 27415155, 29107667, 29119847		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	34906138, 37778450	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15870860		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	27283163		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	40508017	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	19890272	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	26673008, 32852708, 33579347	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	32596330	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	22771917		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	23812909, 27363716	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	BEFREE	26931467, 29771000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate	Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate	GENOMICS_ENGLAND_DG	12627230, 23812909, 25394172, 25759380, 27363716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate	Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate	BEFREE	23812909, 24888332, 26931467, 30787447, 31512363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate	Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate	UNIPROT_DG	23812909, 24888332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate	Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate	ORPHANET_DG	23812909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate	Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate	CLINVAR_DG	23812909, 24888332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hurthle Cell Tumor	Tumor	BEFREE	24817936		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypereosinophilic syndrome	Hypereosinophilic Syndrome	BEFREE	19806146		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30840894		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	19890272	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	19890272		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	BEFREE	24889687		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	28515153		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	12746216	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31619444	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	29722558	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28993502		★☆☆☆☆ Found in Text Mining only
HYPERTRICHOSIS, CONGENITAL GENERALIZED	HYPERTRICHOSIS	BEFREE	17121884		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	27307356	Associate	★☆☆☆☆ Found in Text Mining only
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	11071087		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	18771513		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	LHGDN	15613419, 18463157		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	20139426, 20463092, 22724017, 23341491, 23657145, 23812909, 25064402, 28008864, 28195315, 28209183, 30098700, 31748124, 31996231, 32724172, 32853167, 32982993, 33299522, 34348883, 34440300, 35457241, 35574646, 35669683, 36384729, 38272512, 40141355, 40508017	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	16882753, 17200176, 20139426, 20463092, 23276709, 23812909		★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CLINVAR_DG	24204987		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	15001591, 15613419, 19489874, 19719764, 20389084, 25064402, 28008864, 28087897, 29658329, 31361780, 31605817, 31748124		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	30548283	Associate	★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	30548283		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	28209183	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	31619444	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	27535980		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	19806146, 20425445, 29173361		★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	16606836, 16764984, 16882753, 17200176, 17235395, 18253056, 18463157, 18834967, 19707180, 19820032, 20079901, 20463092, 20553372, 23276709, 23657145, 25226293, 25501157, 26277103, 30269813, 31748124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	16606836, 17235395, 19829004, 20079901, 21247312, 22801565, 24776628, 25226293, 25501157, 26277103, 28008864, 31748124, 33208564, 33775534, 35090434, 35277108, 36384729, 37805574	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG	23812909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG	24204987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23263626		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28387648, 30928883		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	20079901, 27561106	Associate	★☆☆☆☆ Found in Text Mining only
Infiltrating duct carcinoma of female breast	Infiltrating Duct Carcinoma Of Female Breast	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30900526		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	23151501		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	31830366		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Interfrontal craniofaciosynostosis	Interfrontal Craniofaciosynostosis	UNIPROT_DG	11173846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interfrontal craniofaciosynostosis	Interfrontal Craniofaciosynostosis	GENOMICS_ENGLAND_DG	12627230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interfrontal craniofaciosynostosis	Interfrontal Craniofaciosynostosis	BEFREE	16526918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interfrontal craniofaciosynostosis	Interfrontal Craniofaciosynostosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interrupted aortic arch	Interrupted aortic arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	26279428	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Astrocytoma	Intracranial Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28972963		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	29805554, 31409615		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28539818, 29101036, 30090656, 30513524, 30839193, 31326116, 31667951		★☆☆☆☆ Found in Text Mining only
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	UNIPROT_DG	10861678		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	GENOMICS_ENGLAND_DG	12627230, 25759380		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	BEFREE	27683237		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	17351342		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	12627230, 15613419, 15722618, 15845591, 16418210, 16606836, 16757108, 16764984, 17154279, 17186267, 17191030, 17200176, 17223984, 17235395, 17322486, 18034870, 18463157, 19820032, 20117945, 20139426, 20389085, 20536592, 21543378, 22319038, 22751423, 22771917, 22801565, 23154428, 23189990, 23276709, 23329143, 24031091, 24776628, 24841555, 25501157, 26051373, 26199944, 26277103, 26680571, 27502037, 28008864, 28411082, 28778954, 29228280, 29658329, 31361780, 31741254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	LHGDN	12627230, 15001591, 16764984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	16606836, 18723471, 18834967, 18985070, 20139426, 20463092, 21682876, 22031817, 22035731, 22399515, 22751423, 22801565, 23533228, 23657145, 23812909, 24776628, 25501157, 26051373, 26199944, 26277103, 28008864, 29255181, 31741254, 31910188, 32853167, 33299522, 34440300, 35668409, 36859276, 38272512, 40141355	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	17235395, 22319038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	BEFREE	15001591		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 1	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	CLINVAR_DG	10861678, 10942429, 12627230, 14564217, 14613973, 16764984, 16957473, 24127277, 24204987, 24497711, 25251565, 27502037, 28008864, 28754744, 7795583, 7874169		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	UNIPROT_DG	12627230, 15001591, 15605412, 15845591, 16606836, 16757108, 16764984, 16882753, 17154279, 19820032, 21700882, 22927827, 23643382, 25077900, 26277103		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	GENOMICS_ENGLAND_DG	12627230, 23812909, 25394172, 25759380		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	BEFREE	15365636, 16286771		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kallmann syndrome, type 3, recessive	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	26051373		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	36555181	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	24817936		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	24817936	Associate	★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	28185819, 29351293		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28993502, 31758962		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	35367216	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16946300, 23554904, 27808462, 28646488, 30439482, 31250523, 31628193, 9425908		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16946300, 31628193, 31980503, 37280363	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16946300, 23519513, 31439673, 31980503, 35574218, 36509141	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16598308, 16946300, 17394134, 17982626, 22683780, 23609419, 27005999, 28551329		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	24315414		★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	BEFREE	23806793		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	26279428		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	27237367		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	31801397	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16452204, 23785399, 23806793, 25760077, 26069105, 27714806, 27862334, 29247039, 31317555		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	ORPHANET_DG	27363716		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lobar holoprosencephaly	Lobar Holoprosencephaly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lobar Holoprosencephaly	Lobar Holoprosencephaly	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lumbar disc disease	Lumbar Disc Disease	BEFREE	26279428		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17888034, 18829480, 22684217, 24762544, 24771645, 24980830, 25115383, 25477232, 26936993, 27367030, 27893433, 28483948, 30146263, 30297175, 32207251, 33219256, 37009714	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	21936542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26555375	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32326908	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	23609419, 28551329, 28881484		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	12087465, 22356850, 22926771, 24551307, 31439673, 31628193, 33491601, 34533850, 36698221, 37454239, 37715207, 40474715, 40582839	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	21937681, 27808462, 28646488, 29367757, 30413411, 31628193, 9425908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15050920		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	15050920		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18068248, 22989054, 23261523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	22989054, 23261523, 28439461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	CTD_human_DG	23583981		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Glioma	Glioma	BEFREE	30931252		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Head and Neck Neoplasm	Head and neck cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10086345, 10366448, 14729606, 15527903, 16446704, 17397528, 17640550, 19601767, 20024612, 20179196, 20501844, 22665522, 22863309, 23185502, 23658459, 24618085, 26201468, 26279296, 26673008, 26762307, 26801869, 27371729, 27988457, 28125801, 28255231, 28433771, 28751448, 28968431, 29132384, 29561195, 29858603, 29970903, 29996114, 30128822, 30359238, 30487650, 30713601, 30866584, 30968602, 31620934, 31841196		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20179196, 21936542		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	26555375		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	29299828		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	21936542		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22179561, 22648708, 23082000, 23563700, 23696246, 23880303, 24183471, 24302556, 24762544, 24771645, 25918980, 26359452, 26549034, 26936993, 27154822, 27245147, 27338794, 28418088, 28483948, 28630215, 28765892, 28968756, 29022097, 29281903, 29452146, 29858603, 30123084, 30146263, 30297175, 30639621, 30972293, 31492847		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20595807, 25919378, 27812884		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12105858, 17069538, 17363592, 18665077, 23808822, 30593273, 30719110		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10353739, 11170144, 17607666, 18068632, 19182515, 21952621, 25186177, 26451614, 29891507, 30761180, 31028291		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	26661925		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23296701, 23493349, 26239623, 26637881, 27245147, 27829519, 28315172, 30484492, 31138759		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	15564323		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11389083, 19458078, 20889570, 23468956, 27259667, 27669755, 28025079		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11003564, 12127120, 15307112, 15558020, 17607666, 20179196, 21532615, 21745565, 21937681, 22440254, 22781593, 23434054, 23469973, 23777766, 23913758, 24265351, 24501305, 25819384, 25868865, 25918980, 25919378, 26201468, 26549034, 26661925, 26864631, 26896280, 26942290, 27179038, 27371729, 27535980, 27976968, 28315172, 2839429, 28652212, 28783178, 28883546, 28905937, 28972963, 29022097, 29257923, 29281903, 29451369, 29452146, 29584670, 29735550, 29748524, 30080932, 30257990, 30367139, 30515999, 30600916, 30639621, 30761180, 30854106, 30866584, 30931252, 30952642, 31324888, 31485617, 31628193, 31686864, 31841696, 7657392		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	26015511, 26555375, 27315356		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20179196, 21936542		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16305343, 17397528		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17397528, 22879364, 23185502, 27993329, 30866584, 9669664		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20179196, 21936542		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20179196, 21936542		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	20191332		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	24551307	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	17351342, 19175693, 24551307, 29107667		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	16861106		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11891198, 21753785	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12080186, 1437152, 19029025, 31167513, 8959342, 9256280		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12080186		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	8177381		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	14695195, 19204725, 22361116, 22989054, 23261523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	22989054, 29066953, 29865267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	28359267		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	24966347, 25188816		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	31527449	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28501532, 28895643		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	BEFREE	16526918		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	25394172		★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	30891959	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	23583981		★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	23609419		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	35149534	Associate	★☆☆☆☆ Found in Text Mining only
Muenke Syndrome	Muenke Syndrome	BEFREE	27683237		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	31605817		★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21316102, 23696246		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29654269	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28117910		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	34360002	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11739186, 15034873, 15050920, 9716603		★☆☆☆☆ Found in Text Mining only
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement	Myeloid/Lymphoid Neoplasm Associated With FGFR1 Rearrangement	Orphanet			★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	10480903, 10688839, 11122115, 11640868, 11739186, 11746971, 12393597, 12969958, 14672707, 15448205, 15870860, 15975576, 16410451, 16777224, 17027752, 17321332, 17698633, 18096225, 18566537, 20143402, 20191332, 20626469, 21431636, 21527531, 21745565, 22619110, 23554904, 23609419, 23751892, 23904402, 24551307, 25037443, 26391436, 27245147, 28551329, 29107667, 9499416, 9576949		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	11746971		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CTD_human_DG	21936542, 22875613		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	11122115, 11739186, 12393597, 16946300, 17698633, 21330321, 22875613, 23519513, 25803811, 27415155, 28242791, 31980503, 34493159, 35574218, 36930401, 9716603, 9949182	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	31577975		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26096068, 2839429		★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	31619444	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	38065913	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10541167, 11389083, 11519853, 12080186, 12105858, 12127120, 12136423, 12841677, 15273729, 15558020, 15564323, 15774903, 16598308, 16949906, 17321332, 17363592, 17640550, 17696196, 17699850, 18295660, 19258500, 19458078, 19806146, 20191332, 20226962, 20523072, 20889570, 21160078, 21214407, 21532615, 21952621, 22499828, 22619110, 22684217, 22863309, 22869148, 22879364, 22893608, 22903848, 23082000, 23171834, 23182986, 23185502, 23270564, 23296701, 23328683, 23563700, 23658459, 23751892, 24183471, 24302556, 24616020, 24719266, 24736083, 24762544, 24806303, 24861215, 24966347, 25037443, 25287912, 25319834, 25868865, 25919378, 26015511, 26020126, 26179511, 26279296, 26378811, 26407099, 26497743, 26555375, 26661925, 26673008, 26801869, 26849095, 26905262, 26920151, 26936993, 26943575, 27005999, 27194548, 27255162, 27283163, 27338794, 27443518, 27669755, 27862886, 27988457, 28025079, 28049184, 28213002, 28231742, 28433771, 28468611, 28551329, 28619752, 28630215, 28751448, 28858396, 28881484, 29107667, 29270870, 29331751, 29351293, 29367757, 29380000, 29423271, 29453876, 29486661, 29614500, 29683947, 29858603, 30023704, 30046001, 30080932, 30367139, 30562682, 30574019, 30593273, 30785065, 30790744, 30854106, 30866584, 30931252, 30942425, 31066955, 31138759, 31317555, 31405822, 31492847, 31660579, 7705943, 7927944, 8168112, 9100589, 9256280, 9669664		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20421966, 24349301, 33056981, 33915956, 34815394, 34971484	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	BEFREE	24216509, 24349301, 28591721, 28829589, 28951325, 29043002, 29128627, 29562785, 30747083, 30845231, 31003168		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36229517	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	29683947, 30726976		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	26993773	Associate	★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10495436, 18829480, 18849352, 21666749, 23082000, 23563700, 23806793, 23842453, 24183471, 24255716, 24736592, 24850843, 24853178, 25086725, 25819384, 26788508, 26905262, 27901003, 28088809, 28445992, 28558758, 28619752, 29734851, 29896285, 30123084, 30257990, 30297175, 30562682, 30854106, 31097086, 31446228, 31485617, 31819480, 31846829		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	22286583, 27794399		★☆☆☆☆ Found in Text Mining only
Nongerminomatous Germ Cell Tumor	Nongerminomatous Tumor	BEFREE	11764380		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	22863309, 30111373		★☆☆☆☆ Found in Text Mining only
Normosmic congenital hypogonadotropic hypogonadism	Normosmic Congenital Hypogonadotropic Hypogonadism	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18940940, 33019728	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21430024, 23197570, 24498293, 28552744, 28895785, 30046001		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	30046001, 30914635		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	27791984, 27862886, 29761369		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	27862886, 33772213	Associate	★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	28232668, 31652620	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital syndrome 9	Orofaciodigital syndrome	Pubtator	23533228	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrosis	Osteochondrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	GENOMICS_ENGLAND_DG	12627230, 20236123, 23812909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	15625620, 30776416, 31319224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	UNIPROT_DG	15625620, 16470795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	ORPHANET_DG	15625620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	15625620, 20339250, 35148738	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoglosphonic dysplasia	Osteoglosphonic dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteomalacia	Osteomalacia	BEFREE	25089825, 31066955		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	18469019		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23002168, 24861215, 26201468, 26387545, 28442904, 28823917, 29371290, 30574019, 31013829, 31066955, 31686864		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24861215, 26648125, 29371290, 35148738	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20595807, 25919378, 27812884		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32016470, 32596330, 33077920	Associate	★☆☆☆☆ Found in Text Mining only
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	31206783		★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	24817936		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12105858, 17069538, 17363592, 18665077, 30593273, 30719110		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22440254, 23808822		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24503018, 30593273, 37994108, 38387284	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	22319038, 23657145, 25064402		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panhypopituitarism	Panhypopituitarism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28178124, 30664823		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	23619603	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	16949906, 24390213		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	24889687		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	36808802	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic kidney	Pelvic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	28751665	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	25394172		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	29976636	Associate	★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pfeiffer Syndrome	Pfeiffer Syndrome	BEFREE	10394936, 10861678, 10942429, 11596961, 23532954, 25251565, 27683237, 27762162, 30428736, 7493034, 7719345, 7795583, 7874169, 9279753, 9342602		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer Syndrome	Pfeiffer Syndrome	CLINVAR_DG	10861678, 10942429, 12627230, 14564217, 14613973, 16764984, 16957473, 24127277, 24497711, 25251565, 27502037, 28754744, 7795583, 7874169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer Syndrome	Pfeiffer Syndrome	GENOMICS_ENGLAND_DG	12627230, 23812909, 25759380, 28825856		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer Syndrome	Pfeiffer Syndrome	UNIPROT_DG	7874169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer syndrome type 1	Pfeiffer Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pfeiffer type acrocephalosyndactyly	Pfeiffer Type Acrocephalosyndactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	BEFREE	29159601, 30875802		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	29159601, 34971484, 40091522	Associate	★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	BEFREE	28515153, 29514106		★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	27255162		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	29312335, 9237137		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	23817572, 24806303, 25664944, 26083571, 27791984, 28468611, 30825062, 31173478, 31673897		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	ORPHANET_DG	23817572		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	31653819		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	17351342, 19147089, 19175693, 20191332		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	29367757		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	11919391, 15034873, 21937681, 22781593, 23609419, 28551329, 29107667, 29735550		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16777224		★☆☆☆☆ Found in Text Mining only
Primary hypereosinophilic syndrome	Hypereosinophilic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Myelofibrosis	Myelofibrosis	BEFREE	19147089, 19175693, 20191332		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	22801565		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	9237137		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	9237137		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10353739, 11170144, 17607666, 18068632, 19182515, 21952621, 25186177, 26451614, 29891507, 30761180, 31028291		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	24385678	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16798735, 21952621, 29891507, 31028291, 36036607, 37993879, 38065913	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18719360		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	31619444	Associate	★☆☆☆☆ Found in Text Mining only
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	12397010, 31481045	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	31481045		★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ramer Ladda syndrome	Ramer Ladda Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	15001591		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24817936		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15767480, 17699850		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	27783942	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	26998479, 37726478	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	17696196, 31533233		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	17696196		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	38607246	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	21666686	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	38607246	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12697740		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	25089825		★☆☆☆☆ Found in Text Mining only
Rosette-forming glioneuronal neoplasm	Rosette-Forming Glioneuronal Neoplasm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	26289989		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	26910679		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	25918980		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24719266, 27535980		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33707617, 35586877	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	20606682, 35952322	Associate	★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	16861106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	23231877, 30446636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	23542694	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	34440300	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG	27363716		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	15001591		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28187268		★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	22319038, 23657145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	ORPHANET_DG	22319038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-optic dysplasia spectrum	Septo-Optic Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary Syndrome	BEFREE	12393503		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	35149534	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941188		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	23182986, 23887299, 24736083, 25819384, 26020126, 26473643, 27845189, 30297175		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	20615970, 23887299, 24294370, 24736083, 24978188, 26020126, 27367030, 30297175, 32207251	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	27443518		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	35668409	Associate	★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	23812909		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18829480, 22179561, 22648708, 22684217, 23400671, 23434054, 23806793, 23913758, 24077455, 24183471, 24853178, 25086725, 26549034, 26555375, 27315356, 27845189, 27901003, 29022097, 29270870, 29351293, 29807856, 30268457		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18829480		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	22286583, 27794399		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25537505, 26833333, 29088806, 29179482, 29257923, 29517107, 31490704, 31777550		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23619603, 24045665, 24425785, 26015511, 26849095, 27278367, 29351293, 32326908, 34878161, 36165723, 37666053	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	21160076, 21160078, 21666749, 22499828, 22684217, 23154548, 23182986, 23434054, 23469973, 23619603, 23887299, 23913758, 23930754, 24077455, 24501305, 24584974, 25384882, 25433983, 26712871, 26788508, 27581340, 27728803, 28008744, 28483948, 28558758, 28630215, 29190880, 29743589, 30257990		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	27278367		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	27278367, 29553868		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23619603, 24584974, 26936917, 29331751, 30555745		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	30129658		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	27535980		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23296701, 23493349, 26239623, 26637881, 27245147, 27829519, 28315172, 30484492, 31138759		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	11003564, 22529688, 22751462, 23296701, 27437872, 28056982, 29866946, 29976636, 30484492, 31138759	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	33299522	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31203572		★☆☆☆☆ Found in Text Mining only
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcutaneous lipoma	Subcutaneous lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	24776567, 26051373		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	26051373	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	21527531		★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	23620752, 27569099	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	31657648		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28178124	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30664823, 34565758	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15564323		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	28178124	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Selective Pituitary	Thyroid hormone resistance	Pubtator	23341491	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32685526, 9625444	Associate	★☆☆☆☆ Found in Text Mining only
Tonsillitis	Tonsillitis	Pubtator	33491601	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	27870574		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	BEFREE	11173846, 16526918, 17036334, 31512363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigonocephaly	Trigonocephaly	ORPHANET_DG	11173846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigonocephaly	Trigonocephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigonocephaly	Trigonocephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23696246, 24385208, 25868865, 27491809		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25056374, 26676751, 27491809, 33946884, 36083147	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28928792, 30900526		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	26051373		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	CTD_human_DG	16861106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	18068248, 22989054, 23261523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	28439461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	15001591, 16418210, 16764984, 30499042		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19822079	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20889570, 22701738, 32596330, 36142409, 36462464	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27669755	Inhibit	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	19458078, 21119661, 30326563		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27154171, 32951893, 34779493	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	23483937		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	36232829	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	27791984, 27862886, 29761369		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	7829057	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	8325642		★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only