PRNP (prion protein (Kanno blood group))

Gene

• Entrez ID: 5621
• Gene name: Prion protein (Kanno blood group)
• Gene symbol: PRNP
• Synonyms (NCBI Gene): ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30
• Chromosome: 20
• Chromosome location: 20p13
• Summary: The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is foun

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799990	A>G	Risk-factor, pathogenic, benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs11538758	C>A,T	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs17852079	C>A,T	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant, stop gained
rs28933385	G>A	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs74315401	C>T	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs74315402	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315403	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315405	T>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315406	A>G	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315407	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315408	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315409	T>G	Uncertain-significance, pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315410	G>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315411	A>G	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315412	G>A	Uncertain-significance, pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315413	A>G	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315414	C>A,T	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs74315415	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs80356710	T>G	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs80356711	C>T	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs193922906	TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC>-,TCATGGTGGTGGCTGGGGGCAGCC,TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC,TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC,TCATGGTGG	Pathogenic, likely-benign, benign	Inframe insertion, coding sequence variant, inframe deletion
rs398122370	G>C	Pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs398122413	G>C	Pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs398122414	C>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1555782101	C>G	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016426	hsa-miR-193b-3p	Microarray	20304954
MIRT019398	hsa-miR-148b-3p	Microarray	17612493
MIRT020222	hsa-miR-130b-3p	Sequencing	20371350
MIRT024424	hsa-miR-215-5p	Microarray	19074876
MIRT026010	hsa-miR-148a-3p	Sequencing	20371350
MIRT026442	hsa-miR-192-5p	Microarray	19074876
MIRT031685	hsa-miR-16-5p	Proteomics	18668040
MIRT040276	hsa-miR-615-3p	CLASH	23622248
MIRT083635	hsa-miR-892c-5p	PAR-CLIP	20371350
MIRT083631	hsa-miR-506-5p	PAR-CLIP	20371350
MIRT350227	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT350224	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT350225	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT350226	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT083633	hsa-miR-4477a	PAR-CLIP	20371350
MIRT560219	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT083629	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT560218	hsa-miR-1260a	PAR-CLIP	20371350
MIRT560217	hsa-miR-1260b	PAR-CLIP	20371350
MIRT560216	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT083635	hsa-miR-892c-5p	PAR-CLIP	20371350
MIRT083631	hsa-miR-506-5p	PAR-CLIP	20371350
MIRT350227	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT350224	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT350225	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT350226	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT083633	hsa-miR-4477a	PAR-CLIP	20371350
MIRT560219	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT083629	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT560218	hsa-miR-1260a	PAR-CLIP	20371350
MIRT560217	hsa-miR-1260b	PAR-CLIP	20371350
MIRT560216	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT510939	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT510937	hsa-miR-5688	PAR-CLIP	20371350
MIRT510938	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT510936	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT296171	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT296170	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT296174	hsa-miR-5680	PAR-CLIP	20371350
MIRT296168	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT296177	hsa-miR-8073	PAR-CLIP	20371350
MIRT296169	hsa-miR-125b-1-3p	PAR-CLIP	20371350
MIRT296176	hsa-miR-6868-5p	PAR-CLIP	20371350
MIRT510935	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT510933	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT083635	hsa-miR-892c-5p	PAR-CLIP	20371350
MIRT083631	hsa-miR-506-5p	PAR-CLIP	20371350
MIRT350227	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT350224	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT350225	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT350226	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT083633	hsa-miR-4477a	PAR-CLIP	20371350
MIRT560219	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT083629	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT560218	hsa-miR-1260a	PAR-CLIP	20371350
MIRT560217	hsa-miR-1260b	PAR-CLIP	20371350
MIRT560216	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT083635	hsa-miR-892c-5p	PAR-CLIP	20371350
MIRT083631	hsa-miR-506-5p	PAR-CLIP	20371350
MIRT350227	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT350224	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT350225	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT350226	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT083633	hsa-miR-4477a	PAR-CLIP	20371350
MIRT560219	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT083629	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT560218	hsa-miR-1260a	PAR-CLIP	20371350
MIRT560217	hsa-miR-1260b	PAR-CLIP	20371350
MIRT560216	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT510939	hsa-miR-495-3p	PAR-CLIP	23446348
MIRT510937	hsa-miR-5688	PAR-CLIP	23446348
MIRT510938	hsa-miR-7-1-3p	PAR-CLIP	23446348
MIRT510936	hsa-miR-7-2-3p	PAR-CLIP	23446348
MIRT296171	hsa-miR-490-3p	PAR-CLIP	23446348
MIRT296170	hsa-miR-409-3p	PAR-CLIP	23446348
MIRT296174	hsa-miR-5680	PAR-CLIP	23446348
MIRT296168	hsa-miR-221-5p	PAR-CLIP	23446348
MIRT296177	hsa-miR-8073	PAR-CLIP	23446348
MIRT296169	hsa-miR-125b-1-3p	PAR-CLIP	23446348
MIRT296176	hsa-miR-6868-5p	PAR-CLIP	23446348
MIRT521650	hsa-miR-302a-5p	PAR-CLIP	23446348
MIRT510935	hsa-miR-203a-3p	PAR-CLIP	23446348
MIRT510933	hsa-miR-6755-3p	PAR-CLIP	23446348
MIRT510939	hsa-miR-495-3p	PAR-CLIP	23446348
MIRT510937	hsa-miR-5688	PAR-CLIP	23446348
MIRT510938	hsa-miR-7-1-3p	PAR-CLIP	23446348
MIRT510936	hsa-miR-7-2-3p	PAR-CLIP	23446348
MIRT296171	hsa-miR-490-3p	PAR-CLIP	23446348
MIRT296170	hsa-miR-409-3p	PAR-CLIP	23446348
MIRT296174	hsa-miR-5680	PAR-CLIP	23446348
MIRT296168	hsa-miR-221-5p	PAR-CLIP	23446348
MIRT296177	hsa-miR-8073	PAR-CLIP	23446348
MIRT296169	hsa-miR-125b-1-3p	PAR-CLIP	23446348
MIRT296176	hsa-miR-6868-5p	PAR-CLIP	23446348
MIRT510935	hsa-miR-203a-3p	PAR-CLIP	23446348
MIRT510933	hsa-miR-6755-3p	PAR-CLIP	23446348
MIRT153974	hsa-miR-130a-3p	PAR-CLIP	22100165
MIRT154001	hsa-miR-454-3p	PAR-CLIP	22100165
MIRT154010	hsa-miR-4295	PAR-CLIP	22100165
MIRT154011	hsa-miR-3666	PAR-CLIP	22100165
MIRT154002	hsa-miR-301b-3p	PAR-CLIP	22100165
MIRT153977	hsa-miR-301a-3p	PAR-CLIP	22100165
MIRT020222	hsa-miR-130b-3p	PAR-CLIP	22100165
MIRT153972	hsa-miR-106a-5p	PAR-CLIP	22100165
MIRT153976	hsa-miR-106b-5p	PAR-CLIP	22100165
MIRT153968	hsa-miR-17-5p	PAR-CLIP	22100165
MIRT153969	hsa-miR-20a-5p	PAR-CLIP	22100165
MIRT153982	hsa-miR-20b-5p	PAR-CLIP	22100165
MIRT153989	hsa-miR-519d-3p	PAR-CLIP	22100165
MIRT153987	hsa-miR-526b-3p	PAR-CLIP	22100165
MIRT153970	hsa-miR-93-5p	PAR-CLIP	22100165
MIRT153992	hsa-miR-519a-3p	PAR-CLIP	22100165
MIRT153988	hsa-miR-519b-3p	PAR-CLIP	22100165
MIRT153986	hsa-miR-519c-3p	PAR-CLIP	22100165
MIRT442750	hsa-miR-4798-3p	PAR-CLIP	22100165
MIRT442749	hsa-miR-3680-5p	PAR-CLIP	22100165
MIRT153990	hsa-miR-520g-3p	PAR-CLIP	22100165
MIRT153991	hsa-miR-520h	PAR-CLIP	22100165
MIRT442748	hsa-miR-4719	PAR-CLIP	22100165
MIRT153976	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT153969	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439894	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT153976	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT153968	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT153982	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT153970	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT153989	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT153969	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439894	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT026010	hsa-miR-148a-3p	qRT-PCR	34135940
MIRT083635	hsa-miR-892c-5p	PAR-CLIP	20371350
MIRT083631	hsa-miR-506-5p	PAR-CLIP	20371350
MIRT350227	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT350224	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT350225	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT350226	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT083633	hsa-miR-4477a	PAR-CLIP	20371350
MIRT560219	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT083629	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT560218	hsa-miR-1260a	PAR-CLIP	20371350
MIRT560217	hsa-miR-1260b	PAR-CLIP	20371350
MIRT560216	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT083635	hsa-miR-892c-5p	PAR-CLIP	20371350
MIRT083631	hsa-miR-506-5p	PAR-CLIP	20371350
MIRT350227	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT350224	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT350225	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT350226	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT083633	hsa-miR-4477a	PAR-CLIP	20371350
MIRT560219	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT083629	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT560218	hsa-miR-1260a	PAR-CLIP	20371350
MIRT560217	hsa-miR-1260b	PAR-CLIP	20371350
MIRT560216	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT510939	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT510937	hsa-miR-5688	PAR-CLIP	20371350
MIRT510938	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT510936	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT296171	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT296170	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT296174	hsa-miR-5680	PAR-CLIP	20371350
MIRT296168	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT296177	hsa-miR-8073	PAR-CLIP	20371350
MIRT296169	hsa-miR-125b-1-3p	PAR-CLIP	20371350
MIRT296176	hsa-miR-6868-5p	PAR-CLIP	20371350
MIRT510935	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT510933	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT083635	hsa-miR-892c-5p	PAR-CLIP	20371350
MIRT083631	hsa-miR-506-5p	PAR-CLIP	20371350
MIRT350227	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT350224	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT350225	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT350226	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT083633	hsa-miR-4477a	PAR-CLIP	20371350
MIRT560219	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT083629	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT560218	hsa-miR-1260a	PAR-CLIP	20371350
MIRT560217	hsa-miR-1260b	PAR-CLIP	20371350
MIRT560216	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT083635	hsa-miR-892c-5p	PAR-CLIP	20371350
MIRT083631	hsa-miR-506-5p	PAR-CLIP	20371350
MIRT350227	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT350224	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT350225	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT350226	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT083633	hsa-miR-4477a	PAR-CLIP	20371350
MIRT560219	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT083629	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT560218	hsa-miR-1260a	PAR-CLIP	20371350
MIRT560217	hsa-miR-1260b	PAR-CLIP	20371350
MIRT560216	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT510939	hsa-miR-495-3p	PAR-CLIP	23446348
MIRT510937	hsa-miR-5688	PAR-CLIP	23446348
MIRT510938	hsa-miR-7-1-3p	PAR-CLIP	23446348
MIRT510936	hsa-miR-7-2-3p	PAR-CLIP	23446348
MIRT296171	hsa-miR-490-3p	PAR-CLIP	23446348
MIRT296170	hsa-miR-409-3p	PAR-CLIP	23446348
MIRT296174	hsa-miR-5680	PAR-CLIP	23446348
MIRT296168	hsa-miR-221-5p	PAR-CLIP	23446348
MIRT296177	hsa-miR-8073	PAR-CLIP	23446348
MIRT296169	hsa-miR-125b-1-3p	PAR-CLIP	23446348
MIRT296176	hsa-miR-6868-5p	PAR-CLIP	23446348
MIRT521650	hsa-miR-302a-5p	PAR-CLIP	23446348
MIRT510935	hsa-miR-203a-3p	PAR-CLIP	23446348
MIRT510933	hsa-miR-6755-3p	PAR-CLIP	23446348
MIRT510939	hsa-miR-495-3p	PAR-CLIP	23446348
MIRT510937	hsa-miR-5688	PAR-CLIP	23446348
MIRT510938	hsa-miR-7-1-3p	PAR-CLIP	23446348
MIRT510936	hsa-miR-7-2-3p	PAR-CLIP	23446348
MIRT296171	hsa-miR-490-3p	PAR-CLIP	23446348
MIRT296170	hsa-miR-409-3p	PAR-CLIP	23446348
MIRT296174	hsa-miR-5680	PAR-CLIP	23446348
MIRT296168	hsa-miR-221-5p	PAR-CLIP	23446348
MIRT296177	hsa-miR-8073	PAR-CLIP	23446348
MIRT296169	hsa-miR-125b-1-3p	PAR-CLIP	23446348
MIRT296176	hsa-miR-6868-5p	PAR-CLIP	23446348
MIRT510935	hsa-miR-203a-3p	PAR-CLIP	23446348
MIRT510933	hsa-miR-6755-3p	PAR-CLIP	23446348
MIRT153974	hsa-miR-130a-3p	PAR-CLIP	22100165
MIRT154001	hsa-miR-454-3p	PAR-CLIP	22100165
MIRT154010	hsa-miR-4295	PAR-CLIP	22100165
MIRT154011	hsa-miR-3666	PAR-CLIP	22100165
MIRT154002	hsa-miR-301b-3p	PAR-CLIP	22100165
MIRT153977	hsa-miR-301a-3p	PAR-CLIP	22100165
MIRT020222	hsa-miR-130b-3p	PAR-CLIP	22100165
MIRT153972	hsa-miR-106a-5p	PAR-CLIP	22100165
MIRT153976	hsa-miR-106b-5p	PAR-CLIP	22100165
MIRT153968	hsa-miR-17-5p	PAR-CLIP	22100165
MIRT153969	hsa-miR-20a-5p	PAR-CLIP	22100165
MIRT153982	hsa-miR-20b-5p	PAR-CLIP	22100165
MIRT153989	hsa-miR-519d-3p	PAR-CLIP	22100165
MIRT153987	hsa-miR-526b-3p	PAR-CLIP	22100165
MIRT153970	hsa-miR-93-5p	PAR-CLIP	22100165
MIRT153992	hsa-miR-519a-3p	PAR-CLIP	22100165
MIRT153988	hsa-miR-519b-3p	PAR-CLIP	22100165
MIRT153986	hsa-miR-519c-3p	PAR-CLIP	22100165
MIRT442750	hsa-miR-4798-3p	PAR-CLIP	22100165
MIRT442749	hsa-miR-3680-5p	PAR-CLIP	22100165
MIRT153990	hsa-miR-520g-3p	PAR-CLIP	22100165
MIRT153991	hsa-miR-520h	PAR-CLIP	22100165
MIRT442748	hsa-miR-4719	PAR-CLIP	22100165
MIRT1264912	hsa-miR-1182	CLIP-seq
MIRT1264913	hsa-miR-1184	CLIP-seq
MIRT1264914	hsa-miR-1245b-3p	CLIP-seq
MIRT1264915	hsa-miR-1251	CLIP-seq
MIRT1264916	hsa-miR-1252	CLIP-seq
MIRT1264917	hsa-miR-1256	CLIP-seq
MIRT1264918	hsa-miR-1272	CLIP-seq
MIRT1264919	hsa-miR-1301	CLIP-seq
MIRT1264920	hsa-miR-142-5p	CLIP-seq
MIRT1264921	hsa-miR-145	CLIP-seq
MIRT1264922	hsa-miR-148a	CLIP-seq
MIRT1264923	hsa-miR-148b	CLIP-seq
MIRT1264924	hsa-miR-152	CLIP-seq
MIRT1264925	hsa-miR-155	CLIP-seq
MIRT1264926	hsa-miR-1825	CLIP-seq
MIRT1264927	hsa-miR-186	CLIP-seq
MIRT1264928	hsa-miR-193a-3p	CLIP-seq
MIRT1264929	hsa-miR-193b	CLIP-seq
MIRT1264930	hsa-miR-199a-5p	CLIP-seq
MIRT1264931	hsa-miR-199b-5p	CLIP-seq
MIRT1264932	hsa-miR-202	CLIP-seq
MIRT1264933	hsa-miR-22	CLIP-seq
MIRT1264934	hsa-miR-297	CLIP-seq
MIRT1264935	hsa-miR-3064-3p	CLIP-seq
MIRT1264936	hsa-miR-3127-5p	CLIP-seq
MIRT1264937	hsa-miR-3133	CLIP-seq
MIRT1264938	hsa-miR-3160-5p	CLIP-seq
MIRT1264939	hsa-miR-3176	CLIP-seq
MIRT1264940	hsa-miR-3180-5p	CLIP-seq
MIRT1264941	hsa-miR-337-5p	CLIP-seq
MIRT1264942	hsa-miR-338-5p	CLIP-seq
MIRT1264943	hsa-miR-340	CLIP-seq
MIRT1264944	hsa-miR-371b-3p	CLIP-seq
MIRT1264945	hsa-miR-3907	CLIP-seq
MIRT1264946	hsa-miR-3909	CLIP-seq
MIRT1264947	hsa-miR-3922-3p	CLIP-seq
MIRT1264948	hsa-miR-3942-3p	CLIP-seq
MIRT1264949	hsa-miR-4251	CLIP-seq
MIRT1264950	hsa-miR-4257	CLIP-seq
MIRT1264951	hsa-miR-4270	CLIP-seq
MIRT1264952	hsa-miR-4276	CLIP-seq
MIRT1264953	hsa-miR-4302	CLIP-seq
MIRT1264954	hsa-miR-4303	CLIP-seq
MIRT1264955	hsa-miR-4307	CLIP-seq
MIRT1264956	hsa-miR-4320	CLIP-seq
MIRT1264957	hsa-miR-4329	CLIP-seq
MIRT1264958	hsa-miR-433	CLIP-seq
MIRT1264959	hsa-miR-4418	CLIP-seq
MIRT1264960	hsa-miR-4436b-5p	CLIP-seq
MIRT1264961	hsa-miR-4441	CLIP-seq
MIRT1264962	hsa-miR-448	CLIP-seq
MIRT1264963	hsa-miR-4480	CLIP-seq
MIRT1264964	hsa-miR-4494	CLIP-seq
MIRT1264965	hsa-miR-4504	CLIP-seq
MIRT1264966	hsa-miR-4521	CLIP-seq
MIRT1264967	hsa-miR-4641	CLIP-seq
MIRT1264968	hsa-miR-4645-5p	CLIP-seq
MIRT1264969	hsa-miR-4660	CLIP-seq
MIRT1264970	hsa-miR-4666-5p	CLIP-seq
MIRT1264971	hsa-miR-4673	CLIP-seq
MIRT1264972	hsa-miR-4676-5p	CLIP-seq
MIRT1264973	hsa-miR-4678	CLIP-seq
MIRT1264974	hsa-miR-4680-5p	CLIP-seq
MIRT1264975	hsa-miR-4698	CLIP-seq
MIRT1264976	hsa-miR-4720-5p	CLIP-seq
MIRT1264977	hsa-miR-4742-5p	CLIP-seq
MIRT1264978	hsa-miR-4766-3p	CLIP-seq
MIRT1264979	hsa-miR-4799-3p	CLIP-seq
MIRT1264980	hsa-miR-499a-5p	CLIP-seq
MIRT1264981	hsa-miR-5047	CLIP-seq
MIRT1264982	hsa-miR-509-3-5p	CLIP-seq
MIRT1264983	hsa-miR-509-5p	CLIP-seq
MIRT1264984	hsa-miR-513b	CLIP-seq
MIRT1264985	hsa-miR-520d-5p	CLIP-seq
MIRT1264986	hsa-miR-524-5p	CLIP-seq
MIRT1264987	hsa-miR-542-3p	CLIP-seq
MIRT1264988	hsa-miR-548a-5p	CLIP-seq
MIRT1264989	hsa-miR-548ab	CLIP-seq
MIRT1264990	hsa-miR-548ak	CLIP-seq
MIRT1264991	hsa-miR-548b-5p	CLIP-seq
MIRT1264992	hsa-miR-548c-5p	CLIP-seq
MIRT1264993	hsa-miR-548d-5p	CLIP-seq
MIRT1264994	hsa-miR-548h	CLIP-seq
MIRT1264995	hsa-miR-548i	CLIP-seq
MIRT1264996	hsa-miR-548j	CLIP-seq
MIRT1264997	hsa-miR-548k	CLIP-seq
MIRT1264998	hsa-miR-548l	CLIP-seq
MIRT1264999	hsa-miR-548m	CLIP-seq
MIRT1265000	hsa-miR-548w	CLIP-seq
MIRT1265001	hsa-miR-548y	CLIP-seq
MIRT1265002	hsa-miR-559	CLIP-seq
MIRT1265003	hsa-miR-567	CLIP-seq
MIRT1265004	hsa-miR-569	CLIP-seq
MIRT1265005	hsa-miR-575	CLIP-seq
MIRT1265006	hsa-miR-586	CLIP-seq
MIRT1265007	hsa-miR-600	CLIP-seq
MIRT1265008	hsa-miR-758	CLIP-seq
MIRT1265009	hsa-miR-892b	CLIP-seq
MIRT1265010	hsa-miR-934	CLIP-seq
MIRT1265011	hsa-miR-106a	CLIP-seq
MIRT1265012	hsa-miR-106b	CLIP-seq
MIRT1265013	hsa-miR-1208	CLIP-seq
MIRT1265014	hsa-miR-1257	CLIP-seq
MIRT1265015	hsa-miR-130a	CLIP-seq
MIRT1265016	hsa-miR-130b	CLIP-seq
MIRT1264922	hsa-miR-148a	CLIP-seq
MIRT1264923	hsa-miR-148b	CLIP-seq
MIRT1264924	hsa-miR-152	CLIP-seq
MIRT1265017	hsa-miR-17	CLIP-seq
MIRT1265018	hsa-miR-20a	CLIP-seq
MIRT1265019	hsa-miR-20b	CLIP-seq
MIRT1264934	hsa-miR-297	CLIP-seq
MIRT1265020	hsa-miR-301a	CLIP-seq
MIRT1265021	hsa-miR-301b	CLIP-seq
MIRT1265022	hsa-miR-3680	CLIP-seq
MIRT1265023	hsa-miR-376c	CLIP-seq
MIRT1264945	hsa-miR-3907	CLIP-seq
MIRT1264946	hsa-miR-3909	CLIP-seq
MIRT1264952	hsa-miR-4276	CLIP-seq
MIRT1265024	hsa-miR-4420	CLIP-seq
MIRT1265025	hsa-miR-454	CLIP-seq
MIRT1264975	hsa-miR-4698	CLIP-seq
MIRT1265026	hsa-miR-519a	CLIP-seq
MIRT1265027	hsa-miR-519d	CLIP-seq
MIRT1265028	hsa-miR-520g	CLIP-seq
MIRT1265003	hsa-miR-567	CLIP-seq
MIRT1265029	hsa-miR-93	CLIP-seq
MIRT1552586	hsa-miR-1207-3p	CLIP-seq
MIRT1264915	hsa-miR-1251	CLIP-seq
MIRT1264916	hsa-miR-1252	CLIP-seq
MIRT1552587	hsa-miR-1253	CLIP-seq
MIRT1264917	hsa-miR-1256	CLIP-seq
MIRT1552588	hsa-miR-1297	CLIP-seq
MIRT1264928	hsa-miR-193a-3p	CLIP-seq
MIRT1264929	hsa-miR-193b	CLIP-seq
MIRT1264933	hsa-miR-22	CLIP-seq
MIRT1552589	hsa-miR-26a	CLIP-seq
MIRT1552590	hsa-miR-26b	CLIP-seq
MIRT1264939	hsa-miR-3176	CLIP-seq
MIRT1264942	hsa-miR-338-5p	CLIP-seq
MIRT1552591	hsa-miR-3670	CLIP-seq
MIRT1264946	hsa-miR-3909	CLIP-seq
MIRT1264947	hsa-miR-3922-3p	CLIP-seq
MIRT1264950	hsa-miR-4257	CLIP-seq
MIRT1264952	hsa-miR-4276	CLIP-seq
MIRT1264953	hsa-miR-4302	CLIP-seq
MIRT1552592	hsa-miR-4465	CLIP-seq
MIRT1264965	hsa-miR-4504	CLIP-seq
MIRT1552593	hsa-miR-4662a-3p	CLIP-seq
MIRT1264972	hsa-miR-4676-5p	CLIP-seq
MIRT1552594	hsa-miR-4699-3p	CLIP-seq
MIRT1264976	hsa-miR-4720-5p	CLIP-seq
MIRT1552595	hsa-miR-4761-3p	CLIP-seq
MIRT1264978	hsa-miR-4766-3p	CLIP-seq
MIRT1264979	hsa-miR-4799-3p	CLIP-seq
MIRT1552596	hsa-miR-498	CLIP-seq
MIRT1264987	hsa-miR-542-3p	CLIP-seq
MIRT1265005	hsa-miR-575	CLIP-seq
MIRT1552597	hsa-miR-582-5p	CLIP-seq
MIRT1552598	hsa-miR-653	CLIP-seq
MIRT1265008	hsa-miR-758	CLIP-seq
MIRT1265009	hsa-miR-892b	CLIP-seq
MIRT1264952	hsa-miR-4276	CLIP-seq
MIRT1264914	hsa-miR-1245b-3p	CLIP-seq
MIRT1264922	hsa-miR-148a	CLIP-seq
MIRT1264923	hsa-miR-148b	CLIP-seq
MIRT1264924	hsa-miR-152	CLIP-seq
MIRT1264934	hsa-miR-297	CLIP-seq
MIRT2077890	hsa-miR-3143	CLIP-seq
MIRT1264948	hsa-miR-3942-3p	CLIP-seq
MIRT1264952	hsa-miR-4276	CLIP-seq
MIRT1264953	hsa-miR-4302	CLIP-seq
MIRT1264966	hsa-miR-4521	CLIP-seq
MIRT1264975	hsa-miR-4698	CLIP-seq
MIRT2077891	hsa-miR-4775	CLIP-seq
MIRT2077892	hsa-miR-543	CLIP-seq
MIRT1264988	hsa-miR-548a-5p	CLIP-seq
MIRT1264989	hsa-miR-548ab	CLIP-seq
MIRT1264990	hsa-miR-548ak	CLIP-seq
MIRT1264991	hsa-miR-548b-5p	CLIP-seq
MIRT1264992	hsa-miR-548c-5p	CLIP-seq
MIRT1264993	hsa-miR-548d-5p	CLIP-seq
MIRT1264994	hsa-miR-548h	CLIP-seq
MIRT1264995	hsa-miR-548i	CLIP-seq
MIRT1264996	hsa-miR-548j	CLIP-seq
MIRT1265000	hsa-miR-548w	CLIP-seq
MIRT1265001	hsa-miR-548y	CLIP-seq
MIRT1265002	hsa-miR-559	CLIP-seq
MIRT1265003	hsa-miR-567	CLIP-seq
MIRT2077893	hsa-miR-607	CLIP-seq
MIRT1264934	hsa-miR-297	CLIP-seq
MIRT1264975	hsa-miR-4698	CLIP-seq
MIRT1265003	hsa-miR-567	CLIP-seq
MIRT1264922	hsa-miR-148a	CLIP-seq
MIRT1264923	hsa-miR-148b	CLIP-seq
MIRT1264924	hsa-miR-152	CLIP-seq
MIRT1264952	hsa-miR-4276	CLIP-seq
MIRT1264955	hsa-miR-4307	CLIP-seq
MIRT2304430	hsa-miR-591	CLIP-seq
MIRT1264955	hsa-miR-4307	CLIP-seq
MIRT2393039	hsa-miR-219-5p	CLIP-seq
MIRT1264934	hsa-miR-297	CLIP-seq
MIRT2393040	hsa-miR-4287	CLIP-seq
MIRT2393041	hsa-miR-4469	CLIP-seq
MIRT2393042	hsa-miR-4685-3p	CLIP-seq
MIRT1264975	hsa-miR-4698	CLIP-seq
MIRT2393043	hsa-miR-4760-5p	CLIP-seq
MIRT2393044	hsa-miR-4782-3p	CLIP-seq
MIRT2393045	hsa-miR-507	CLIP-seq
MIRT2393046	hsa-miR-557	CLIP-seq
MIRT1265003	hsa-miR-567	CLIP-seq
MIRT2304430	hsa-miR-591	CLIP-seq
MIRT1264952	hsa-miR-4276	CLIP-seq
MIRT1264912	hsa-miR-1182	CLIP-seq
MIRT1264913	hsa-miR-1184	CLIP-seq
MIRT1265013	hsa-miR-1208	CLIP-seq
MIRT1264915	hsa-miR-1251	CLIP-seq
MIRT1265014	hsa-miR-1257	CLIP-seq
MIRT1264918	hsa-miR-1272	CLIP-seq
MIRT2601265	hsa-miR-1279	CLIP-seq
MIRT1552588	hsa-miR-1297	CLIP-seq
MIRT1264919	hsa-miR-1301	CLIP-seq
MIRT2601266	hsa-miR-1322	CLIP-seq
MIRT1264922	hsa-miR-148a	CLIP-seq
MIRT1264923	hsa-miR-148b	CLIP-seq
MIRT1264924	hsa-miR-152	CLIP-seq
MIRT1264927	hsa-miR-186	CLIP-seq
MIRT2601267	hsa-miR-1976	CLIP-seq
MIRT1552589	hsa-miR-26a	CLIP-seq
MIRT1552590	hsa-miR-26b	CLIP-seq
MIRT1264934	hsa-miR-297	CLIP-seq
MIRT1264935	hsa-miR-3064-3p	CLIP-seq
MIRT1264936	hsa-miR-3127-5p	CLIP-seq
MIRT1264937	hsa-miR-3133	CLIP-seq
MIRT2077890	hsa-miR-3143	CLIP-seq
MIRT2601268	hsa-miR-3145-3p	CLIP-seq
MIRT2601269	hsa-miR-3152-5p	CLIP-seq
MIRT2601270	hsa-miR-3154	CLIP-seq
MIRT1264938	hsa-miR-3160-5p	CLIP-seq
MIRT1264940	hsa-miR-3180-5p	CLIP-seq
MIRT1264942	hsa-miR-338-5p	CLIP-seq
MIRT2601271	hsa-miR-3662	CLIP-seq
MIRT2601272	hsa-miR-3671	CLIP-seq
MIRT2601273	hsa-miR-3682-3p	CLIP-seq
MIRT2601274	hsa-miR-3689a-3p	CLIP-seq
MIRT2601275	hsa-miR-3689c	CLIP-seq
MIRT2601276	hsa-miR-3692	CLIP-seq
MIRT1264945	hsa-miR-3907	CLIP-seq
MIRT1264946	hsa-miR-3909	CLIP-seq
MIRT1264950	hsa-miR-4257	CLIP-seq
MIRT1264951	hsa-miR-4270	CLIP-seq
MIRT1264952	hsa-miR-4276	CLIP-seq
MIRT2601277	hsa-miR-4277	CLIP-seq
MIRT2601278	hsa-miR-4297	CLIP-seq
MIRT1264953	hsa-miR-4302	CLIP-seq
MIRT2601279	hsa-miR-4318	CLIP-seq
MIRT1264959	hsa-miR-4418	CLIP-seq
MIRT1265024	hsa-miR-4420	CLIP-seq
MIRT2601280	hsa-miR-4423-5p	CLIP-seq
MIRT2601281	hsa-miR-4428	CLIP-seq
MIRT1264960	hsa-miR-4436b-5p	CLIP-seq
MIRT1264961	hsa-miR-4441	CLIP-seq
MIRT1552592	hsa-miR-4465	CLIP-seq
MIRT1264966	hsa-miR-4521	CLIP-seq
MIRT2601282	hsa-miR-4652-3p	CLIP-seq
MIRT1264969	hsa-miR-4660	CLIP-seq
MIRT1552593	hsa-miR-4662a-3p	CLIP-seq
MIRT1264972	hsa-miR-4676-5p	CLIP-seq
MIRT2601283	hsa-miR-4693-5p	CLIP-seq
MIRT2601284	hsa-miR-4694-3p	CLIP-seq
MIRT1264975	hsa-miR-4698	CLIP-seq
MIRT1552594	hsa-miR-4699-3p	CLIP-seq
MIRT2601285	hsa-miR-4705	CLIP-seq
MIRT2601286	hsa-miR-4714-3p	CLIP-seq
MIRT2601287	hsa-miR-4728-5p	CLIP-seq
MIRT2601288	hsa-miR-4762-5p	CLIP-seq
MIRT2601289	hsa-miR-4774-3p	CLIP-seq
MIRT2077891	hsa-miR-4775	CLIP-seq
MIRT2601290	hsa-miR-4793-5p	CLIP-seq
MIRT2601291	hsa-miR-486-5p	CLIP-seq
MIRT1552596	hsa-miR-498	CLIP-seq
MIRT2601292	hsa-miR-499-3p	CLIP-seq
MIRT2601293	hsa-miR-499a-3p	CLIP-seq
MIRT1264981	hsa-miR-5047	CLIP-seq
MIRT2393045	hsa-miR-507	CLIP-seq
MIRT1264982	hsa-miR-509-3-5p	CLIP-seq
MIRT1264983	hsa-miR-509-5p	CLIP-seq
MIRT1264984	hsa-miR-513b	CLIP-seq
MIRT2601294	hsa-miR-515-5p	CLIP-seq
MIRT2601295	hsa-miR-522	CLIP-seq
MIRT2077892	hsa-miR-543	CLIP-seq
MIRT1264988	hsa-miR-548a-5p	CLIP-seq
MIRT1264989	hsa-miR-548ab	CLIP-seq
MIRT1264990	hsa-miR-548ak	CLIP-seq
MIRT1264991	hsa-miR-548b-5p	CLIP-seq
MIRT1264992	hsa-miR-548c-5p	CLIP-seq
MIRT1264993	hsa-miR-548d-5p	CLIP-seq
MIRT1264994	hsa-miR-548h	CLIP-seq
MIRT1264995	hsa-miR-548i	CLIP-seq
MIRT1264996	hsa-miR-548j	CLIP-seq
MIRT2601296	hsa-miR-548n	CLIP-seq
MIRT1265000	hsa-miR-548w	CLIP-seq
MIRT1265001	hsa-miR-548y	CLIP-seq
MIRT2393046	hsa-miR-557	CLIP-seq
MIRT1265002	hsa-miR-559	CLIP-seq
MIRT1265003	hsa-miR-567	CLIP-seq
MIRT1265005	hsa-miR-575	CLIP-seq
MIRT1552597	hsa-miR-582-5p	CLIP-seq
MIRT2601297	hsa-miR-590-3p	CLIP-seq
MIRT2304430	hsa-miR-591	CLIP-seq
MIRT2077893	hsa-miR-607	CLIP-seq
MIRT1552598	hsa-miR-653	CLIP-seq
MIRT2601298	hsa-miR-767-5p	CLIP-seq
MIRT2601299	hsa-miR-892a	CLIP-seq
MIRT1264912	hsa-miR-1182	CLIP-seq
MIRT1264913	hsa-miR-1184	CLIP-seq
MIRT1265013	hsa-miR-1208	CLIP-seq
MIRT1264915	hsa-miR-1251	CLIP-seq
MIRT1265014	hsa-miR-1257	CLIP-seq
MIRT1264918	hsa-miR-1272	CLIP-seq
MIRT2601265	hsa-miR-1279	CLIP-seq
MIRT1552588	hsa-miR-1297	CLIP-seq
MIRT1264919	hsa-miR-1301	CLIP-seq
MIRT2601266	hsa-miR-1322	CLIP-seq
MIRT1264922	hsa-miR-148a	CLIP-seq
MIRT1264923	hsa-miR-148b	CLIP-seq
MIRT1264924	hsa-miR-152	CLIP-seq
MIRT1264927	hsa-miR-186	CLIP-seq
MIRT2601267	hsa-miR-1976	CLIP-seq
MIRT1552589	hsa-miR-26a	CLIP-seq
MIRT1552590	hsa-miR-26b	CLIP-seq
MIRT1264934	hsa-miR-297	CLIP-seq
MIRT1264935	hsa-miR-3064-3p	CLIP-seq
MIRT1264936	hsa-miR-3127-5p	CLIP-seq
MIRT1264937	hsa-miR-3133	CLIP-seq
MIRT2077890	hsa-miR-3143	CLIP-seq
MIRT2601268	hsa-miR-3145-3p	CLIP-seq
MIRT2601269	hsa-miR-3152-5p	CLIP-seq
MIRT1264938	hsa-miR-3160-5p	CLIP-seq
MIRT1264940	hsa-miR-3180-5p	CLIP-seq
MIRT1264942	hsa-miR-338-5p	CLIP-seq
MIRT2601271	hsa-miR-3662	CLIP-seq
MIRT2601272	hsa-miR-3671	CLIP-seq
MIRT2601273	hsa-miR-3682-3p	CLIP-seq
MIRT2601274	hsa-miR-3689a-3p	CLIP-seq
MIRT2601275	hsa-miR-3689c	CLIP-seq
MIRT2601276	hsa-miR-3692	CLIP-seq
MIRT1264945	hsa-miR-3907	CLIP-seq
MIRT1264946	hsa-miR-3909	CLIP-seq
MIRT1264951	hsa-miR-4270	CLIP-seq
MIRT1264952	hsa-miR-4276	CLIP-seq
MIRT2601277	hsa-miR-4277	CLIP-seq
MIRT2601278	hsa-miR-4297	CLIP-seq
MIRT1264953	hsa-miR-4302	CLIP-seq
MIRT2601279	hsa-miR-4318	CLIP-seq
MIRT1264959	hsa-miR-4418	CLIP-seq
MIRT1265024	hsa-miR-4420	CLIP-seq
MIRT2601280	hsa-miR-4423-5p	CLIP-seq
MIRT2601281	hsa-miR-4428	CLIP-seq
MIRT1264960	hsa-miR-4436b-5p	CLIP-seq
MIRT1264961	hsa-miR-4441	CLIP-seq
MIRT1552592	hsa-miR-4465	CLIP-seq
MIRT1264966	hsa-miR-4521	CLIP-seq
MIRT2601282	hsa-miR-4652-3p	CLIP-seq
MIRT1264969	hsa-miR-4660	CLIP-seq
MIRT1552593	hsa-miR-4662a-3p	CLIP-seq
MIRT1264972	hsa-miR-4676-5p	CLIP-seq
MIRT2601283	hsa-miR-4693-5p	CLIP-seq
MIRT2601284	hsa-miR-4694-3p	CLIP-seq
MIRT1264975	hsa-miR-4698	CLIP-seq
MIRT1552594	hsa-miR-4699-3p	CLIP-seq
MIRT2601285	hsa-miR-4705	CLIP-seq
MIRT2601286	hsa-miR-4714-3p	CLIP-seq
MIRT2601287	hsa-miR-4728-5p	CLIP-seq
MIRT2601288	hsa-miR-4762-5p	CLIP-seq
MIRT2601289	hsa-miR-4774-3p	CLIP-seq
MIRT2077891	hsa-miR-4775	CLIP-seq
MIRT2601290	hsa-miR-4793-5p	CLIP-seq
MIRT2601291	hsa-miR-486-5p	CLIP-seq
MIRT1552596	hsa-miR-498	CLIP-seq
MIRT2601292	hsa-miR-499-3p	CLIP-seq
MIRT2601293	hsa-miR-499a-3p	CLIP-seq
MIRT1264981	hsa-miR-5047	CLIP-seq
MIRT2393045	hsa-miR-507	CLIP-seq
MIRT1264982	hsa-miR-509-3-5p	CLIP-seq
MIRT1264983	hsa-miR-509-5p	CLIP-seq
MIRT1264984	hsa-miR-513b	CLIP-seq
MIRT2601294	hsa-miR-515-5p	CLIP-seq
MIRT2601295	hsa-miR-522	CLIP-seq
MIRT2077892	hsa-miR-543	CLIP-seq
MIRT1264988	hsa-miR-548a-5p	CLIP-seq
MIRT1264989	hsa-miR-548ab	CLIP-seq
MIRT1264990	hsa-miR-548ak	CLIP-seq
MIRT1264991	hsa-miR-548b-5p	CLIP-seq
MIRT1264992	hsa-miR-548c-5p	CLIP-seq
MIRT1264993	hsa-miR-548d-5p	CLIP-seq
MIRT1264994	hsa-miR-548h	CLIP-seq
MIRT1264995	hsa-miR-548i	CLIP-seq
MIRT1264996	hsa-miR-548j	CLIP-seq
MIRT2601296	hsa-miR-548n	CLIP-seq
MIRT1265000	hsa-miR-548w	CLIP-seq
MIRT1265001	hsa-miR-548y	CLIP-seq
MIRT2393046	hsa-miR-557	CLIP-seq
MIRT1265002	hsa-miR-559	CLIP-seq
MIRT1265003	hsa-miR-567	CLIP-seq
MIRT1265005	hsa-miR-575	CLIP-seq
MIRT1552597	hsa-miR-582-5p	CLIP-seq
MIRT2601297	hsa-miR-590-3p	CLIP-seq
MIRT2304430	hsa-miR-591	CLIP-seq
MIRT2077893	hsa-miR-607	CLIP-seq
MIRT1552598	hsa-miR-653	CLIP-seq
MIRT2601298	hsa-miR-767-5p	CLIP-seq
MIRT2601299	hsa-miR-892a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MTF1	Activation	18990686
SP1	Activation	18990686
SP1	Unknown	23131565
XBP1	Unknown	23737521

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001540	Function	Amyloid-beta binding	IDA	24012003
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0001540	Function	Amyloid-beta binding	IPI	22820466
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0001540	Function	Amyloid-beta binding	TAS	21593310, 26871627
GO:0002020	Function	Protease binding	IEA
GO:0002020	Function	Protease binding	ISS
GO:0005507	Function	Copper ion binding	IDA	11900542
GO:0005507	Function	Copper ion binding	IEA
GO:0005507	Function	Copper ion binding	TAS	16294306, 19242475, 24970228
GO:0005515	Function	Protein binding	IPI	16286452, 17500595, 18482256, 21920025, 22285492, 22484317, 23236467, 23907583, 24012003, 24028865, 24390569, 28298427, 28650319, 28671123, 32814053
GO:0005521	Function	Lamin binding	IEA
GO:0005539	Function	Glycosaminoglycan binding	IEA
GO:0005539	Function	Glycosaminoglycan binding	ISS
GO:0005737	Component	Cytoplasm	TAS	16004966
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	21478263
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	16254249, 18419754
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006878	Process	Intracellular copper ion homeostasis	NAS	16004966
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	ISS
GO:0007611	Process	Learning or memory	IEA
GO:0007611	Process	Learning or memory	ISS
GO:0007616	Process	Long-term memory	TAS	19242475
GO:0008017	Function	Microtubule binding	IDA	16004966
GO:0009897	Component	External side of plasma membrane	NAS	22293988
GO:0009986	Component	Cell surface	HDA	19581412
GO:0009986	Component	Cell surface	IDA	18419754
GO:0009986	Component	Cell surface	IEA
GO:0010955	Process	Negative regulation of protein processing	TAS	23386614
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0014069	Component	Postsynaptic density	TAS	22820466
GO:0015631	Function	Tubulin binding	IDA	16004966
GO:0016020	Component	Membrane	IEA
GO:0016234	Component	Inclusion body	IMP	20564047
GO:0019828	Function	Aspartic-type endopeptidase inhibitor activity	IEA
GO:0019828	Function	Aspartic-type endopeptidase inhibitor activity	ISS
GO:0019898	Component	Extrinsic component of membrane	TAS	16004966
GO:0030425	Component	Dendrite	IDA	24012003
GO:0030425	Component	Dendrite	IEA
GO:0031648	Process	Protein destabilization	IMP	20564047
GO:0031802	Function	Type 5 metabotropic glutamate receptor binding	IEA
GO:0031802	Function	Type 5 metabotropic glutamate receptor binding	ISS
GO:0031805	Function	Type 8 metabotropic glutamate receptor binding	IDA	24012003
GO:0031965	Component	Nuclear membrane	IDA
GO:0032689	Process	Negative regulation of type II interferon production	IEA
GO:0032689	Process	Negative regulation of type II interferon production	ISS
GO:0032700	Process	Negative regulation of interleukin-17 production	IEA
GO:0032700	Process	Negative regulation of interleukin-17 production	ISS
GO:0032703	Process	Negative regulation of interleukin-2 production	IEA
GO:0032703	Process	Negative regulation of interleukin-2 production	ISS
GO:0032880	Process	Regulation of protein localization	IEA
GO:0035556	Process	Intracellular signal transduction	IDA	22820466
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16286452, 18025469, 18436646, 19204296, 19278656, 19927125, 20564047, 21920025, 32284600, 32514176, 34516876
GO:0043008	Function	ATP-dependent protein binding	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043195	Component	Terminal bouton	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IMP	20564047
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0044877	Function	Protein-containing complex binding	IPI	23386614
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0045121	Component	Membrane raft	IDA	16254249
GO:0045121	Component	Membrane raft	IEA
GO:0045121	Component	Membrane raft	IMP	23386614
GO:0045121	Component	Membrane raft	ISS
GO:0046007	Process	Negative regulation of activated T cell proliferation	IEA
GO:0046007	Process	Negative regulation of activated T cell proliferation	ISS
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046688	Process	Response to copper ion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IGI	24012003
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IEA
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	ISS
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	30401430
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	IEA
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	ISS
GO:0071280	Process	Cellular response to copper ion	IDA	16254249
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0090314	Process	Positive regulation of protein targeting to membrane	IEA
GO:0090314	Process	Positive regulation of protein targeting to membrane	ISS
GO:0097062	Process	Dendritic spine maintenance	TAS	25707991
GO:0098552	Component	Side of membrane	IEA
GO:0098794	Component	Postsynapse	TAS	26224839
GO:0140677	Function	Molecular function activator activity	IEA
GO:0140693	Function	Molecular condensate scaffold activity	IDA	30401430
GO:0140693	Function	Molecular condensate scaffold activity	IEA
GO:1900272	Process	Negative regulation of long-term synaptic potentiation	IEA
GO:1900449	Process	Regulation of glutamate receptor signaling pathway	IEA
GO:1900449	Process	Regulation of glutamate receptor signaling pathway	ISS
GO:1900451	Process	Positive regulation of glutamate receptor signaling pathway	IGI	24012003
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IEA
GO:1902430	Process	Negative regulation of amyloid-beta formation	IEA
GO:1902430	Process	Negative regulation of amyloid-beta formation	ISS
GO:1902951	Process	Negative regulation of dendritic spine maintenance	IEA
GO:1902951	Process	Negative regulation of dendritic spine maintenance	ISS
GO:1902992	Process	Negative regulation of amyloid precursor protein catabolic process	IEA
GO:1902992	Process	Negative regulation of amyloid precursor protein catabolic process	ISS
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IEA
GO:1903135	Function	Cupric ion binding	IEA
GO:1903136	Function	Cuprous ion binding	IMP	20564047
GO:1904645	Process	Response to amyloid-beta	IEA
GO:1904645	Process	Response to amyloid-beta	ISS
GO:1904646	Process	Cellular response to amyloid-beta	IEA
GO:1904646	Process	Cellular response to amyloid-beta	IGI	24012003
GO:1905664	Process	Regulation of calcium ion import across plasma membrane	IEA
GO:1905664	Process	Regulation of calcium ion import across plasma membrane	ISS
GO:1990535	Process	Neuron projection maintenance	IEA
GO:1990535	Process	Neuron projection maintenance	ISS

Other IDs

• MIM: 176640
• HGNC: 9449
• e!Ensembl: ENSG00000171867

Protein

• UniProt ID: P04156
• Protein name: Major prion protein (PrP) (ASCR) (PrP27-30) (PrP33-35C) (CD antigen CD230)
• Protein function: Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 recept
• PDB: 1E1G, 1E1J, 1E1P, 1E1S, 1E1U, 1E1W, 1FKC, 1FO7, 1H0L, 1HJM, 1HJN, 1I4M, 1OEH, 1OEI, 1QLX, 1QLZ, 1QM0, 1QM1, 1QM2, 1QM3, 2IV4, 2IV5, 2IV6, 2K1D, 2KUN, 2LBG, 2LEJ, 2LFT, 2LSB, 2LV1, 2M8T, 2OL9, 2W9E, 3HAF, 3HAK, 3HEQ, 3HER, 3HES, 3HJ5, 3HJX, 3MD4, 3MD5, 3NHC, 3NHD, 3NVF, 4DGI, 4E1H, 4E1I, 4KML, 4N9O, 5L6R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11587	Prion_bPrPp	1 → 28	Major prion protein bPrPp - N terminal	Family
  PF00377	Prion	134 → 252	Prion/Doppel alpha-helical domain	Domain

• Sequence:

  MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQP
  HGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGA
  VVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQVYYRPMDEYSNQNNFVHDCV
  NITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
  ILLISFLIFLIVG

• Sequence length: 253
• UniProt ID: F7VJQ1
• Protein name: Alternative prion protein (AltPrP)
• Tissue specificity: TISSUE SPECIFICITY: Detected in brain homogenate, primary neurons, and peripheral blood mononuclear cells (at protein level). {ECO:0000269|PubMed:21478263}.
• Sequence:

  MEHWGQPIPGAGQPWRQPLPTSGRWWLGAASWWWLGAASWWWLGAAPWWWLGTASWWWLG
  SRRWHPQSVEQAE

• Sequence length: 73

Pathways

KEGG:

Ferroptosis
Prion disease
Pathways of neurodegeneration - multiple diseases

Reactome:

Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

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
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED	Pathogenic; Likely pathogenic	rs80356710, rs80356711, rs398122414, rs1555782101	RCV000074469 RCV000074470 RCV000074471 RCV000074473	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatal familial insomnia	Pathogenic; Likely pathogenic	rs28933385, rs74315403	RCV000014335 RCV000020248	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gerstmann-Straussler-Scheinker syndrome	Likely pathogenic; Pathogenic	rs74315410, rs193922906, rs74315401, rs74315402, rs74315403, rs74315405, rs74315406, rs11538758, rs74315413, rs74315415, rs17852079	RCV001809309 RCV000014327 RCV000014329 RCV000014330 RCV005252115 RCV000014340 RCV000014341 RCV000014343 RCV000014351 RCV000014353 RCV000014356 RCV000074472	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Huntington disease-like 1	Likely pathogenic; Pathogenic	rs181348299, rs372878791, rs193922906, rs74315401, rs28933385, rs74315403, rs74315405, rs74315406, rs74315407, rs74315408, rs74315411, rs74315410, rs74315412, rs80356711	RCV002009625 RCV003064598 RCV000014328 RCV001203438 RCV000644587 RCV001214652 RCV000644586 RCV001851852 RCV000532969 RCV001212635 RCV003514300 RCV001348311 RCV001851853 RCV002513138	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Creutzfeldt-Jakob disease	Likely pathogenic; Pathogenic	rs181348299, rs193922906, rs74315401, rs28933385, rs74315407, rs74315408, rs74315412, rs398122370	RCV003324843 RCV000014326 RCV001813741 RCV000014334 RCV000014342 RCV000014344 RCV000014352 RCV000074468	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited prion disease	Pathogenic; Likely pathogenic	rs193922906, rs74315408	RCV000020259 RCV000020249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRNP-associated condition	Pathogenic	rs193922906	RCV000850408	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRNP-related disorder	Likely pathogenic; Pathogenic	rs74315406, rs74315412	RCV003987321 RCV002468968	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spongiform encephalopathy with neuropsychiatric features	Pathogenic; Likely pathogenic	rs74315401, rs74315403, rs74315408, rs74315411, rs74315413, rs74315414	RCV001642224 RCV005252115 RCV005867754 RCV000014347 RCV000014354 RCV000014355	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLINICAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT JACOB DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB DISEASE	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB DISEASE, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA IN HUNTINGTONS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOLENTICULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA, FATAL FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kuru, protection against	protective	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRION DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reclassified - variant of unknown significance	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC CREUTZFELD JACOB DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5-oxoprolinase deficiency	5-oxoprolinase deficiency	BEFREE	25851806		★☆☆☆☆ Found in Text Mining only
Action Myoclonus-Renal Failure Syndrome	Action Myoclonus-Renal Failure Syndrome	CTD_human_DG	25401298		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	17149767		★☆☆☆☆ Found in Text Mining only
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17234469		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28900035		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	29527422		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31477838		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17676483		★☆☆☆☆ Found in Text Mining only
Akinetic Mutism	Akinetic Mutism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29443105		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	29443105		★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	2685311		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11770893, 19571725, 20576610, 21416485, 21654203, 22701727, 23577068, 24958194, 27910931, 28671123, 30451334, 31182772, 33131137, 34470554, 35144616, 35962130, 38437769, 39789805	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24047819	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	10896268, 12601712		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	25104557		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Amyloid angiopathy	Amyloid angiopathy	Pubtator	27716661, 8570627	Associate	★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	BEFREE	25623792		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	11087738, 12733425, 17636066, 18349519, 19242475, 19710507, 19911184, 21821925, 21862871, 24519981, 25148681, 25853328, 26018073, 28373719, 28390893, 28963458, 29349578, 29887140, 30240140, 30394185, 31161647, 31194501, 31373200, 31417361, 7767492, 7783865, 7954833, 8093741, 8101988, 8310806, 8520719, 8570627, 8737929, 8939199		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	29455155, 35819518	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis Familial	Amyloidosis	Pubtator	19911184, 29455155	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis of peripheral nerves	Amyloidosis of peripheral nerves	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	BEFREE	19225789		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20075202, 27356036, 29887144		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	17316906		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	29443105		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	10369661	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	8896573		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31634902		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	19019226, 20981774, 22426236, 9504785		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	19690385, 27639164, 29052140		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	31589911		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	18955686	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18810471		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	19910028		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	25151961		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	21911696, 22612156, 22675855, 23764840, 24118545, 29092967, 30103963, 30606247, 9153600, 9669701	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	11914409, 22971727		★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	29509064		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18810471		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	11303793, 26507310, 36744645	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Inclusion-Body Disease	Inclusion-Body Disease	CTD_human_DG	25401298		★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	23764840	Associate	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	10935432, 14533778, 24447368		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27864821		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	29509064	Associate	★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	14717981, 4031633, 759524		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	LHGDN	18188498		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	23070075		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25098795, 32560489, 8105481	Associate	★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	37013454	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	LHGDN	16192387		★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	24340298, 32178563	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14744790, 19680558, 20426538, 21494810, 23133614, 23497519, 23681900, 29052140, 30830863		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17872899, 19680558, 23133614, 23497519, 32444848	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37535656	Inhibit	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	8293721		★☆☆☆☆ Found in Text Mining only
Bulbospinal Neuronopathy	Bulbospinal Neuronopathy	BEFREE	8293721		★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan disease	Pubtator	9034563	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18505059, 22147650, 28900035	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18505059		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31477838, 7581478		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	22820080, 34876792	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26040780	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	9811324	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29070896		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	36138047	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	28416787, 29509064	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	9883727		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	24330864, 29264994, 29509064	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	29509064		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	18436646, 19911184, 21827207, 34128081	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	23808898, 24447368, 26354483, 8570627		★☆☆☆☆ Found in Text Mining only
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	BEFREE	19225789		★☆☆☆☆ Found in Text Mining only
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED	Cerebral Amyloid Angiopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral cortex myoclonus	Cerebral Cortex Myoclonus	BEFREE	29326035		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	24866463		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	20177119	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	35307828	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18596986		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	8293721		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	18612811, 24178909, 26094604, 29138803, 31180539		★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	12023426	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30708974, 30785084, 31083336		★☆☆☆☆ Found in Text Mining only
Chronic metabolic acidosis	Metabolic Acidosis	BEFREE	26669244		★☆☆☆☆ Found in Text Mining only
Chronic metabolic acidosis	Metabolic Acidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22044695, 30641209		★☆☆☆☆ Found in Text Mining only
clinical depression	Mental Depression	PSYGENET_DG	26152722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNS disorder	CNS Disorder	BEFREE	30635947, 31785109		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21597335, 21791975, 23406923, 24118545, 24838726, 24958194, 25495585, 26768678, 29092967, 29861043, 31387445, 31447551, 33466217, 35307828, 39789805, 40156621	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30661727		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	19698114	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	1346333		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18505059, 20564346, 22972305, 23418321, 27112151, 27630281, 28822989, 29052140, 29599315, 30478887, 31377347		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18505059		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18505059, 30478887, 33671292, 34249475, 35067161, 35962130	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	22972305, 27112151		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Familial	Creutzfeldt-Jakob disease	BEFREE	10090891, 10360778, 10672318, 10896268, 10954699, 10970246, 11568919, 11574147, 11716303, 11733840, 11756597, 12420099, 12459456, 1353341, 1353342, 1357594, 1439789, 1469441, 15850581, 16533975, 16598479, 1674696, 1684754, 18325785, 18635614, 1922809, 20806222, 21107135, 21537833, 2159587, 23527686, 24360565, 25149502, 25522698, 26806765, 27929804, 27997483, 28096244, 28814578, 30910549, 7767490, 7823070, 7906019, 7951257, 8105682, 8138811, 8584252, 8618678, 8618679, 8750875, 8909447, 9142120, 9710033		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creutzfeldt-Jakob Disease, Familial	Creutzfeldt-Jakob disease	ORPHANET_DG	10790216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creutzfeldt-Jakob Disease, Familial	Creutzfeldt-Jakob disease	CTD_human_DG	12572668, 23349890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	10214751, 10483920, 10519879, 10599800, 10762506, 10871544, 10976638, 11054187, 11702213, 12578942, 12594315, 12684540, 14507340, 14522863, 14602879, 14966171, 15314808, 15606903, 15617854, 15716520, 15753435, 15933870, 16009895, 16037975, 16170128, 16175355, 16354106, 1677164, 16847689, 16903140, 16957926, 17047093, 17134829, 17513070, 17709374, 18024694, 18339451, 18349519, 18389084, 18751990, 18955905, 19074151, 19399233, 19718500, 19734292, 20529115, 20547859, 20823086, 20855418, 20855493, 20866111, 20973975, 21584652, 21616973, 21799773, 21931554, 22318125, 22505365, 22895088, 22930754, 23180183, 23478311, 23780662, 23832485, 24252157, 24360565, 25022936, 25726360, 25851836, 26239179, 26268049, 26457299, 26634863, 26682685, 26836195, 26840342, 26940479, 28278113, 28298604, 28449707, 28509609, 28516863, 28598840, 28987186, 29167394, 29264994, 29345730, 29867164, 29887134, 29887145, 29889261, 29934424, 30062673, 30123962, 30308445, 30318820, 30606247, 30735286, 30850568, 31206560, 31306078, 31651418, 31675505, 31797465, 7783958, 7845623, 8105421, 8651649, 8875462, 8880705, 9667781, 9684997, 9797009		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	ORPHANET_DG	10790216		★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	8570627	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	15829248		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28339078, 29379374, 30443214		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	27723241		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	32627665	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10443888, 11061272, 11506406, 12023426, 12200619, 12451210, 12679875, 1357593, 14991353, 15258222, 15824374, 16037975, 1674696, 16903147, 18425766, 19030774, 19571725, 20613639, 21107135, 21193246, 21218337, 21297264, 21959360, 22211828, 22763467, 23319218, 23998997, 28131204, 29142140, 29803646, 30240140, 31216593, 31734530, 7699395, 8513392, 8520719, 8570627, 8737929, 8909447, 9222181, 9442893, 9932941		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	10631141, 18955686, 19571725, 21107135, 21163230, 21193246, 26074146, 27716661, 29509064, 30103963, 30240140, 30530974, 34782343, 35144616, 38583641, 8570627, 9153600	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	16025285, 17709704, 18425766, 18443555, 19010951		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	GENOMICS_ENGLAND_DG	16831973, 20583301		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	17570906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating diseases	Pubtator	15716520	Associate	★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	22971727		★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	CTD_human_DG	25401298		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	21416485	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	21439331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis Contact	Contact dermatitis	Pubtator	9811324	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	11303793	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33920886	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33832546, 34274990	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	14966171	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34545296	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29846863		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	27716661	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	35738080	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	11303793, 7992832	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12796830, 2904679, 3014653		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	12796830		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23577068, 36138047	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	8464656		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	19698114, 40156621	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	20514992		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	22675855	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	11704923, 37679832	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	31447551, 37013454	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29720937		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	10581485, 10953183, 11220690, 12543108, 15068810, 18455951, 19927125, 20564346, 2559163, 2567794, 29142140, 29337365, 6758661, 7767489, 8100163, 8137132, 8137138, 8750875, 9007411, 9222181		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Enzymopathy	Enzymopathy	BEFREE	11167850		★☆☆☆☆ Found in Text Mining only
Enzymopathy	Enzymopathy	GENOMICS_ENGLAND_DG	11167850, 8896573		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	12469868, 14610121, 17092648, 24866463		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	15304595		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	16580884, 17092648, 18549399, 24091711		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	16580884, 17092648		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29070896		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10631141, 21862871, 22820466		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer-like prion disease	Alzheimer-Like Prion Disease	ORPHANET_DG	21416485		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer-like prion disease	Alzheimer-Like Prion Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	BEFREE	23787697, 2567794		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	26507310, 29436943		★☆☆☆☆ Found in Text Mining only
Familial Progressive Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	25401298		★☆☆☆☆ Found in Text Mining only
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	10221163, 10371520, 10389103, 11595148, 11693721, 11756597, 12356908, 12420099, 12464332, 12540068, 12609901, 12815603, 12849238, 1346338, 1347910, 1357593, 1439789, 14732629, 15535133, 15623717, 15634234, 15739202, 16109494, 16598479, 16979429, 18347820, 19571725, 19709627, 20096809, 20806222, 20978903, 21071944, 22040318, 22609023, 23430483, 23808898, 24141515, 24340298, 24360565, 24375448, 25220284, 25281825, 26074146, 26864450, 27056979, 27943639, 28387370, 28549449, 28814578, 28878311, 28987186, 29126445, 29142239, 29245265, 29569252, 29718878, 29887141, 30012679, 30062673, 30890351, 31122137, 31340582, 7611720, 7767490, 7783865, 7951257, 7999318, 7999319, 8041803, 8105681, 8255458, 8293721, 8618678, 8647879, 8780067, 8841969, 8909448, 9222180, 9270595, 9288728, 9521257, 9653185, 9669701, 9669705, 9710033, 9813003, 9818894		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatal Familial Insomnia	Fatal Insomnia	UNIPROT_DG	1347910, 1439789, 19927125		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatal Familial Insomnia	Fatal Insomnia	GENOMICS_ENGLAND_DG	16227536, 16831973		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatal Familial Insomnia	Fatal Insomnia	LHGDN	19228673		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatal familial insomnia	Fatal Insomnia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatal Familial Insomnia	Fatal Insomnia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatal Familial Insomnia	Fatal Insomnia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia	Frontotemporal dementia	BEFREE	20711061, 21297264, 21343707, 21584652, 21911696, 22612156, 26757195, 27910931, 29569252		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	20711061, 21911696, 22612156, 23944754, 25239657, 26757195, 27910931, 32602775	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	24047819	Inhibit	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	25022973		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	CTD_human_DG	10203975		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	10408557, 10483920, 10541874, 10581259, 10851377, 10889337, 10970892, 11087738, 11395398, 11693719, 11709001, 11967261, 12200619, 12420099, 12540068, 12609901, 12682740, 12733425, 12814912, 1348851, 1357663, 1359725, 1363809, 1363810, 14533778, 14747574, 15361416, 15716520, 16551938, 16597650, 16598479, 1671530, 1672107, 1672296, 1674116, 1677164, 1677605, 1678248, 1679288, 1684089, 1684745, 1685324, 16903147, 17080720, 17135402, 17353478, 17873292, 18566986, 18955686, 19443103, 19675240, 19680558, 19696976, 19725833, 1973256, 20613639, 20695009, 20844046, 21760536, 2180366, 22211828, 22384235, 22965875, 23527686, 23857164, 23944754, 24086135, 24141515, 24814844, 25418590, 2564168, 2567794, 26135918, 26368533, 26528810, 26592824, 26841849, 26864450, 27499183, 2783132, 28851967, 29142239, 29338055, 29349578, 29509064, 29889261, 30240140, 30373672, 30394185, 30561322, 31142381, 31340582, 31397917, 31413052, 31533183, 7501157, 7637591, 7699395, 7767492, 7767493, 7858176, 7902971, 7913765, 7922109, 7951257, 7954833, 7999318, 8041803, 8097911, 8100163, 8105771, 8250529, 8358624, 8461023, 8737929, 8797472, 8841969, 8939199, 9030710, 9126858, 9153600, 9285466, 9383432, 9653185, 9667781, 9710033, 9786248, 9813003		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	UNIPROT_DG	10581485, 11709001, 1363810, 1439789, 19927125, 2564168, 7699395, 7783876, 7902972, 8797472, 9786248		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	LHGDN	12682740, 16025285, 16825951		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	GENOMICS_ENGLAND_DG	16831973, 24224623		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker syndrome	Gerstmann-Straussler-Scheinker Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma	Glaucoma	BEFREE	30295074		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	31511544		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	12081137, 32560489, 36834778	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18445040, 25151961, 26094604, 27112151, 27229535, 28412969, 31618844		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18445040, 25151961, 26094604, 27229535, 28412969, 31618844		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21478678, 31752162		★☆☆☆☆ Found in Text Mining only
Glutamate-cysteine ligase deficiency	Glutamate-Cysteine Ligase Deficiency	BEFREE	17397529		★☆☆☆☆ Found in Text Mining only
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to	Glutathione Synthetase Deficiency Of Erythrocytes	GENOMICS_ENGLAND_DG	11167850, 15990954, 26669244, 27604308, 8896573		★☆☆☆☆ Found in Text Mining only
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to	Glutathione Synthetase Deficiency Of Erythrocytes	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to	Glutathione Synthetase Deficiency Of Erythrocytes	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to	Glutathione Synthetase Deficiency Of Erythrocytes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glutathione synthetase deficiency with 5-oxoprolinuria	Glutathione Synthetase Deficiency With 5-Oxoprolinuria	Orphanet			★☆☆☆☆ Found in Text Mining only
Glutathione synthetase deficiency without 5-oxoprolinuria	Glutathione Synthetase Deficiency Without 5-Oxoprolinuria	Orphanet			★☆☆☆☆ Found in Text Mining only
Gluthathione synthetase deficiency	Gluthathione synthetase deficiency	CLINGEN_DG	10450861, 1112810, 13061393, 14635114, 21802407, 25851806, 27581854, 29340523, 30581542, 8896573, 9215686		★☆☆☆☆ Found in Text Mining only
Gluthathione synthetase deficiency	Gluthathione synthetase deficiency	GENOMICS_ENGLAND_DG	11167850, 15990954, 26669244, 27604308, 8896573		★☆☆☆☆ Found in Text Mining only
Gluthathione synthetase deficiency	Gluthathione synthetase deficiency	BEFREE	11905, 25851806, 29340523, 8896573		★☆☆☆☆ Found in Text Mining only
Gluthathione synthetase deficiency	Gluthathione synthetase deficiency	CLINVAR_DG	14635114, 15717202, 17479648, 25851806, 8896573		★☆☆☆☆ Found in Text Mining only
Gluthathione synthetase deficiency	Gluthathione synthetase deficiency	UNIPROT_DG	27581854, 8896573, 9215686		★☆☆☆☆ Found in Text Mining only
Gluthathione synthetase deficiency	Gluthathione synthetase deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gluthathione synthetase deficiency	Gluthathione synthetase deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	20802163	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia, Spastic	Hemiplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	11260069	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	12543108	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	20070383, 31639263		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	20070383, 31639263		★☆☆☆☆ Found in Text Mining only
Hepatic Form of Wilson Disease	Hepatolenticular degeneration	CTD_human_DG	16831968		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	16543824, 16831968, 29059476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	LHGDN	16831968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CTD_human_DG	16831968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	17387271		★☆☆☆☆ Found in Text Mining only
Hereditary Hyperexplexia	Hyperekplexia	BEFREE	28703419		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	16009550		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	26768678	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11593450, 17316906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	LHGDN	11593450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington disease	Pubtator	11593450	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE-LIKE 1	Huntington Disease-Like	CLINVAR_DG	10079068, 10360778, 11756597, 11839833, 12372829, 1363809, 1363810, 14967768, 15366237, 16939293, 17494694, 20139714, 20514992, 20541558, 20593190, 21298055, 22072968, 22318125, 22584955, 23132868, 23296137, 23723004, 25064618, 25522698, 2572450, 25959220, 26791950, 27803826, 8939199, 9813003		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HUNTINGTON DISEASE-LIKE 1	Huntington Disease-Like	ORPHANET_DG	11593450, 24275071		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Huntington disease-like 1	Huntington Disease-Like	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HUNTINGTON DISEASE-LIKE 1	Huntington Disease-Like	GENOMICS_ENGLAND_DG	16831973		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HUNTINGTON DISEASE-LIKE 1	Huntington Disease-Like	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	21584652		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	28783266		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	25218830		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	25218830		★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	23026528, 32664164	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31619708		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	16858508	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17387271	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18445040, 19919574	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29132227		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	12796830, 20133875, 20409635, 21775587, 23406923, 25151961, 30423195, 30661727, 31441374, 8909448, 9748018		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	7804466, 7992832, 8117535		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24866463		★☆☆☆☆ Found in Text Mining only
Insomnia Fatal Familial	Insomnia	Pubtator	10811705, 12609901, 1346338, 1357593, 15361416, 15606903, 17873292, 19571725, 21904617, 22558438, 23026528, 24118545, 24340298, 26074146, 26617725, 28091514, 28387370, 29245265, 29718878, 30048013, 30062673, 31122137, 31795176, 32946318, 34158325, 34667102, 35288744, 36037966, 36656833, 37626863, 39716111, 7908444, 7951257, 8105681, 8647879, 9653185, 9669701, 9669704, 9669714, 9813003	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	33832546	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34782343	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	19019226		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	29379374		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	12437673	Associate	★☆☆☆☆ Found in Text Mining only
Kuru	Kuru	ORPHANET_DG	11120925		★☆☆☆☆ Found in Text Mining only
Kuru	Kuru	Orphanet			★☆☆☆☆ Found in Text Mining only
Kuru	Kuru	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	12451207, 26227957, 29704213		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	24047819	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29437631		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17234469		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24706505	Associate	★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	19111905		★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	BEFREE	19111905		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30513246		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	10519879, 32938301, 37013454, 37525413	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19099191, 20426538, 23133614, 23497519, 23681900, 29052140, 30830863		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31477838, 7581478		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19690385, 26718886, 27639164		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17199135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15386405, 16914329, 19143835, 23497519, 29052140, 29069734, 30254439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	17387271		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18505059, 18612811, 23681900, 26718886, 27229535, 27630281, 29052140, 29527422, 31020572, 31180539		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	1346333		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17872899		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18006836		★☆☆☆☆ Found in Text Mining only
May-White Syndrome	May-White Syndrome	CTD_human_DG	25401298		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11260330		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35232428	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	21416485, 23026528, 23764840, 24118545, 24958194, 25482600, 29095671, 36883639	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27864821		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	23405858		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	22453181, 26768678		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	21439331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	25052333		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	25239657	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth Diseases	CTD_human_DG	17682004		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10408557, 10541874, 10963679, 11709001, 12420099, 12451207, 15824374, 15883322, 16391566, 16769939, 16831973, 20216075, 21911696, 23518043, 28778873, 28987186, 7699395, 7902972, 8250529, 9669700		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	22675855	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27716661	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15617854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	28120944		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CTD_human_DG	25401298		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	17420473, 19400950, 7904883, 8698234		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	11303793	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	11303793, 7992832	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	8293721		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10641721, 17872899, 19329434, 19690385, 21478678, 21494810, 23497519, 24178909, 25742790, 26094604, 27229535, 27630281, 28900035, 29138803, 30091203, 30254439, 30830863, 7596306		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27716661	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11702213, 12023426, 1678248, 16914329, 24027305, 27803245, 28630454, 30690664, 31249376		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	28692055		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10438517, 12485397, 17996023, 18325785, 25280966, 28102851, 9353306	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10454141, 10970892, 12485397, 15046864, 15772339, 16696854, 17143323, 17697940, 19477226, 19748523, 21163327, 21537833, 22398286, 23805846, 23900566, 28102851, 28431525		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	15672681, 16434486, 16764865, 1684089, 19351416, 22147650, 22363733, 22701727, 23406923, 24112521, 27341347, 27457357, 27793473, 30792490, 31182772, 31735962, 31888217, 32502491, 33342883, 33832546, 34274990, 34470554, 35962130, 36037966, 36581683, 7951257, 9168960	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19542614	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10545332, 11286781, 11668434, 12109876, 12196139, 15542971, 15557265, 16315279, 16415305, 16543824, 16724107, 1684089, 16903147, 17129366, 17570906, 17995926, 18433435, 19027745, 19075585, 19308092, 19351416, 19399233, 19618915, 19709627, 19887909, 19951998, 19960174, 20195363, 20375014, 20564346, 20949975, 21107851, 21209079, 21849340, 21980292, 22036844, 22057275, 22072968, 22210626, 22362783, 23131565, 23340381, 23413979, 23787697, 23808898, 23959875, 24713662, 25022973, 25435015, 25456402, 26721882, 26840342, 26841849, 27128441, 27457357, 27641601, 28112164, 28131204, 28340953, 28395246, 28421536, 28428956, 28464931, 28657440, 28669732, 28690540, 28722340, 28754560, 28761068, 28805003, 28827331, 28838660, 28861778, 28861792, 28861793, 28951092, 28987186, 29114657, 29142106, 29310723, 29518068, 29642165, 29700113, 29784843, 29789820, 29803646, 30074430, 30154245, 30336980, 30337492, 30341601, 30483944, 30539802, 30571737, 30635947, 30675000, 30729399, 30756103, 30792490, 30850568, 30871095, 30875466, 31041657, 31182772, 31271065, 31338021, 31371089, 31547531, 31734530, 31736708, 31740413, 31848406, 7913755, 7922109, 8461647, 8513392, 8676756, 9009832, 9383432, 9452375, 9694662		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	24224623, 25623792, 27716661, 8293721		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	BEFREE	10320013, 10931212, 10936691, 11693716, 11704923, 12051707, 12064259, 12456643, 12679264, 12871283, 14962520, 15148991, 15174020, 15302196, 15361416, 15521976, 16119432, 16400018, 16480953, 16507908, 16606639, 16767691, 16809423, 17614097, 17987393, 18071044, 18638557, 18714385, 18849282, 19074151, 19081515, 19097123, 19495414, 19659941, 20070383, 20535485, 20697057, 21029243, 21790605, 22137330, 23449776, 23792955, 24205298, 27499183, 28444687, 29142239, 29406965, 29458529, 30914754, 30938429, 9684997		★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	ORPHANET_DG	10790216		★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	CTD_human_DG	12572668, 23349890		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	7804466, 7992832, 8117535		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	16949098		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus associated with disorder of the vestibular system	Nystagmus Associated With Disorder Of The Vestibular System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28739602		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37960823	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29388085, 29511819, 31538913		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29180271		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	27377321	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22147650		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22147650	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36213323	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19690385, 26718886, 27639164		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	19690385, 27639164, 29052140		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20550479, 22820080, 34876792	Associate	★☆☆☆☆ Found in Text Mining only
Paranoid Disorders	Paranoia	Pubtator	29092967	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	30240140	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	34764955	Stimulate	★☆☆☆☆ Found in Text Mining only
Paresthesia	Paresthesia	Pubtator	30103963	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	11400017, 22701727, 28128401, 31447551, 32946318, 33466217, 33832546, 34224312, 34470554	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15997418, 16298483, 17316906, 18455951, 19021544, 19808079, 28128401, 28193724, 29704213, 30120951, 30601948, 30690664, 31358351		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	18955686, 30373672, 33466217	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	11914409, 18455951		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	12543108		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	27501152, 8780103		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	15716520, 17420473, 19400950, 8698234		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	15716520, 27716661, 31953922	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	15716520, 17420473, 19400950, 8698234		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	20711061, 21343707, 21584652, 21911696, 22612156, 27910931, 29569252		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	26268531		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36322230	Inhibit	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	11303793	Stimulate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	24224623		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	31288606		★☆☆☆☆ Found in Text Mining only
Posterior cortical atrophy syndrome	Posterior cortical atrophy	BEFREE	21959360, 29436943		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	22426236		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10443888, 11061272, 11506406, 12200619, 12451210, 12679875, 1357593, 14991353, 15258222, 15824374, 16037975, 16903147, 18425766, 19030774, 19571725, 1973256, 20613639, 21107135, 21193246, 21218337, 21297264, 21959360, 22211828, 22763467, 23319218, 23998997, 28131204, 29142140, 29803646, 30240140, 31216593, 31734530, 7699395, 8513392, 8520719, 8570627, 8595485, 8737929, 8909447, 9932941		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	27716661	Associate	★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	16315279, 22129783		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	LHGDN	16315279		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	10500170, 10631141, 10934164, 10954699, 10963679, 11069909, 11260069, 11303793, 11385020, 11489910, 11579148, 11584448, 11593450, 11704923, 11749972, 11770893, 11964260, 12023426, 12372829, 12416392, 12485397, 12609901, 12641727, 12805563, 12808118, 1346338, 1353945, 14761942, 15123682, 15131108, 15247220, 15606903, 15716521, 15741275, 15862295, 16227536, 16354106, 16434486, 16437693, 16443601, 1684089, 16864581, 16980300, 17129366, 17308293, 17329244, 17605808, 17873292, 17996023, 18025469, 18571782, 18665216, 18757886, 18955686, 18990686, 19081515, 19089302, 19138779, 19210573, 19278902, 19416900, 19680558, 19684471, 19698114, 19911184, 19919574, 19923577, 20177119, 20195363, 20573963, 20592456, 20592908, 20661422, 20670940, 20685658, 20695009, 20844046, 20875062, 20932979, 20949975, 21029243, 21107135, 21298055, 21416485, 21799773, 21838916, 21911696, 21931554, 22002245, 22233534, 22363733, 22384235, 22561193, 22744790, 22952813, 23070047, 23133614, 23372790, 23406923, 23467330, 23515139, 23527686, 23555862, 23740487, 23897825, 23967259, 24112521, 24121542, 24275071, 24398570, 24509603, 24555712, 24713662, 24809690, 25030900, 25099577, 25149502, 25231392, 25897833, 26108478, 26482532, 26634863, 26768678, 27122583, 27184108, 27310471, 27341347, 27716661, 27893164, 27910931, 28091514, 28109886, 28387370, 28407243, 28900035, 29043964, 29092967, 29141869, 29216791, 29245265, 29330303, 29391125, 29861043, 30062673, 30181558, 30451334, 30606247, 30792490, 31447551, 31795176, 31861275, 31888217, 31953922, 32098855, 32560489, 32602775, 32612191, 32949544, 33123960, 33342883, 33542378, 33590433, 33731477, 34182938, 34224312, 34470554, 34487324, 34705895, 35288744, 35754056, 35819518, 36097290, 36301953, 36432036, 36580661, 36581683, 37379724, 37705331, 37853094, 39332406, 39789805, 40156621, 7907586, 8105682, 8461647, 8529127, 8647879, 8973567, 9353306, 9473220, 9653185, 9669701, 9789072, 9811324, 9811348, 9813003	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	16903147, 28131204, 9932941		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	29886532		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10641721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17199135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21716162, 28069826, 35962130	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PrP systemic amyloidosis	PrP Systemic Amyloidosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	30698738	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	27864821		★☆☆☆☆ Found in Text Mining only
Psychomotor Agitation	Psychiatric disorders	Pubtator	19698114	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	16949098		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	27310471	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic mentation	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22044695	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31208977		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31208977		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	3281857		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Roberts Syndrome	Roberts syndrome	Pubtator	24809690	Associate	★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	27684960		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12682740, 21105962		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	12682740, 18188498		★☆☆☆☆ Found in Text Mining only
Schizophrenia Paranoid	Schizophrenia	Pubtator	34965177	Associate	★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	4031633		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	21911696	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	10762506, 10871544, 10953183, 15917101, 1684745, 18233951, 18751990, 23792955, 31808343, 7904883		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	9811324	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	20514992		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	24838726	Associate	★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 31	Spinocerebellar ataxia	Pubtator	29411683	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 31 (disorder)	Spinocerebellar Ataxia	BEFREE	29411683		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	22072678		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	38258626	Associate	★☆☆☆☆ Found in Text Mining only
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	Spongiform Encephalopathy With Neuropsychiatric Features	UNIPROT_DG	12214108, 9266722		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	Spongiform Encephalopathy With Neuropsychiatric Features	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	Spongiform Encephalopathy With Neuropsychiatric Features	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sporadic fatal insomnia	Sporadic Fatal Insomnia	Orphanet			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26718886		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19861202, 28038473, 29802697	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26718886		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15386405, 16914329, 19143835, 23497519, 29052140, 29069734, 30254439		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16582585, 16914329, 17409275		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16582585, 17387271, 19143835, 19210573, 23497519, 24706505	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	17387271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	24047819	Inhibit	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	31847701		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	2895163		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	12200619, 18433435, 24224623, 29458424, 30355631, 31329216		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	29300106, 30487054, 31840415, 31842921		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31238786	Associate	★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	22675855, 23764840, 34224312	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	2564168		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	30513246		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	25401298		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	32664164	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23764840, 24838726, 29092967, 34782343	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	31541597		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	31541597		★☆☆☆☆ Found in Text Mining only