GRN (granulin precursor)

Gene

• Entrez ID: 2896
• Gene name: Granulin precursor
• Gene symbol: GRN
• Synonyms (NCBI Gene): CLN11, FTD2, GEP, GP88, PCDGF, PEPI, PGRN
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs63749801	CAGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs63749817	G>A,C	Likely-pathogenic, pathogenic, not-provided	Splice donor variant
rs63749877	CACT>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs63749905	->A	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs63749908	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs63750077	C>T	Pathogenic, not-provided	Stop gained, coding sequence variant
rs63750331	G>A	Pathogenic, not-provided	Initiator codon variant, missense variant
rs63750411	C>T	Pathogenic	Stop gained, coding sequence variant
rs63750412	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, coding sequence variant
rs63750548	A>G	Pathogenic, not-provided	Splice acceptor variant
rs63750707	G>A	Likely-pathogenic, not-provided	Splice donor variant
rs63751006	T>C	Pathogenic, not-provided	Initiator codon variant, missense variant
rs63751020	A>G,T	Likely-pathogenic, not-provided	Intron variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs63751035	TG>-,TGTG	Pathogenic, not-provided	Stop gained, inframe indel, frameshift variant, coding sequence variant
rs63751073	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs63751074	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs63751085	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs63751100	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs63751166	G>A	Pathogenic, not-provided	Synonymous variant, coding sequence variant
rs63751177	G>A	Pathogenic	Stop gained, coding sequence variant
rs63751180	C>A,G,T	Pathogenic	Synonymous variant, stop gained, missense variant, coding sequence variant
rs63751243	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs63751294	C>T	Pathogenic	Stop gained, coding sequence variant
rs63751296	G>C	Pathogenic, not-provided	Splice acceptor variant
rs193026789	C>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs606231220	->CCTG	Pathogenic	Coding sequence variant, frameshift variant
rs606231221	G>A	Pathogenic	Splice donor variant
rs770058074	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs778599933	TGAG>-	Uncertain-significance, likely-pathogenic	Splice donor variant, intron variant
rs794729669	G>C	Pathogenic	Splice donor variant
rs794729670	T>C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs794729671	->T	Pathogenic	Coding sequence variant, frameshift variant
rs794729672	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1392550887	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555610855	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555611136	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555611154	G>A	Pathogenic	Splice acceptor variant
rs1555611253	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555611256	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555611293	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555611412	A>G	Pathogenic	Splice acceptor variant
rs1555611439	->AACGT	Pathogenic	Frameshift variant, coding sequence variant
rs1567885658	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1567885728	G>A	Likely-pathogenic	Splice donor variant
rs1567886206	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567886445	->TGTGAAGACAGGGTGCACTGCTGTC	Pathogenic	Frameshift variant, coding sequence variant
rs1567886478	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567887004	->CC	Pathogenic	Frameshift variant, coding sequence variant
rs1567887015	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567887496	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567887567	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs1567887777	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1567888461	C>A	Pathogenic	Coding sequence variant, stop gained
rs1598362746	G>A	Pathogenic	Coding sequence variant, stop gained
rs1598363083	G>C	Pathogenic	Splice donor variant
rs1598363490	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1598364296	TCAGGCCAC>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1598364358	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1598364782	C>A	Pathogenic	Coding sequence variant, stop gained
rs1598364961	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004761	hsa-miR-107	Microarray, Western blot	20884628
MIRT004761	hsa-miR-107	Microarray, Western blot	20884628
MIRT004761	hsa-miR-107	Microarray, Western blot	20884628
MIRT000034	hsa-miR-659-3p	Luciferase reporter assay, Western blot	18723524
MIRT000034	hsa-miR-659-3p	Luciferase reporter assay, Western blot	18723524
MIRT005486	hsa-miR-29b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20479936
MIRT005486	hsa-miR-29b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20479936
MIRT005486	hsa-miR-29b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20479936
MIRT005486	hsa-miR-29b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	20479936
MIRT021404	hsa-miR-9-5p	Reporter assay	20479936
MIRT004761	hsa-miR-107	Reporter assay;Western blot;Microarray	20489155
MIRT005486	hsa-miR-29b-3p	Reporter assay;Western blot;Other	20479936
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT627129	hsa-miR-8485	HITS-CLIP	23824327
MIRT627127	hsa-miR-3939	HITS-CLIP	23824327
MIRT627128	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT627126	hsa-miR-5191	HITS-CLIP	23824327
MIRT627125	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT627124	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT627123	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT627121	hsa-miR-8056	HITS-CLIP	23824327
MIRT627122	hsa-miR-4752	HITS-CLIP	23824327
MIRT1035277	hsa-miR-1321	CLIP-seq
MIRT1035278	hsa-miR-2054	CLIP-seq
MIRT1035279	hsa-miR-3119	CLIP-seq
MIRT1035280	hsa-miR-3140-3p	CLIP-seq
MIRT1035281	hsa-miR-3150a-3p	CLIP-seq
MIRT1035282	hsa-miR-3162-5p	CLIP-seq
MIRT1035283	hsa-miR-3175	CLIP-seq
MIRT1035284	hsa-miR-3670	CLIP-seq
MIRT1035285	hsa-miR-3689d	CLIP-seq
MIRT1035286	hsa-miR-4270	CLIP-seq
MIRT1035287	hsa-miR-4278	CLIP-seq
MIRT1035288	hsa-miR-4300	CLIP-seq
MIRT1035289	hsa-miR-4441	CLIP-seq
MIRT1035290	hsa-miR-4474-3p	CLIP-seq
MIRT1035291	hsa-miR-4685-5p	CLIP-seq
MIRT1035292	hsa-miR-4716-3p	CLIP-seq
MIRT1035293	hsa-miR-4723-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035295	hsa-miR-4739	CLIP-seq
MIRT1035296	hsa-miR-4756-5p	CLIP-seq
MIRT1035297	hsa-miR-615-5p	CLIP-seq
MIRT1035298	hsa-miR-659	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT1035300	hsa-miR-920	CLIP-seq
MIRT1035301	hsa-miR-939	CLIP-seq
MIRT1035277	hsa-miR-1321	CLIP-seq
MIRT2006946	hsa-miR-1470	CLIP-seq
MIRT2006947	hsa-miR-2467-3p	CLIP-seq
MIRT1035282	hsa-miR-3162-5p	CLIP-seq
MIRT2006948	hsa-miR-3616-3p	CLIP-seq
MIRT1035285	hsa-miR-3689d	CLIP-seq
MIRT1035287	hsa-miR-4278	CLIP-seq
MIRT2006949	hsa-miR-4468	CLIP-seq
MIRT2006950	hsa-miR-4481	CLIP-seq
MIRT1035292	hsa-miR-4716-3p	CLIP-seq
MIRT1035293	hsa-miR-4723-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035295	hsa-miR-4739	CLIP-seq
MIRT2006951	hsa-miR-4745-5p	CLIP-seq
MIRT1035296	hsa-miR-4756-5p	CLIP-seq
MIRT1035297	hsa-miR-615-5p	CLIP-seq
MIRT1035298	hsa-miR-659	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT2239479	hsa-miR-4701-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT2437502	hsa-miR-1237	CLIP-seq
MIRT1035278	hsa-miR-2054	CLIP-seq
MIRT2437503	hsa-miR-3064-3p	CLIP-seq
MIRT1035279	hsa-miR-3119	CLIP-seq
MIRT2437504	hsa-miR-3127-3p	CLIP-seq
MIRT1035280	hsa-miR-3140-3p	CLIP-seq
MIRT2437505	hsa-miR-3660	CLIP-seq
MIRT2437506	hsa-miR-4256	CLIP-seq
MIRT1035290	hsa-miR-4474-3p	CLIP-seq
MIRT2437507	hsa-miR-4526	CLIP-seq
MIRT2437508	hsa-miR-4640-3p	CLIP-seq
MIRT2437509	hsa-miR-4715-3p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT2437510	hsa-miR-4776-3p	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT2543202	hsa-miR-1224-3p	CLIP-seq
MIRT2437502	hsa-miR-1237	CLIP-seq
MIRT2543203	hsa-miR-1245b-5p	CLIP-seq
MIRT2543204	hsa-miR-1304	CLIP-seq
MIRT1035277	hsa-miR-1321	CLIP-seq
MIRT2006946	hsa-miR-1470	CLIP-seq
MIRT1035278	hsa-miR-2054	CLIP-seq
MIRT2006947	hsa-miR-2467-3p	CLIP-seq
MIRT2437503	hsa-miR-3064-3p	CLIP-seq
MIRT1035279	hsa-miR-3119	CLIP-seq
MIRT2437504	hsa-miR-3127-3p	CLIP-seq
MIRT1035280	hsa-miR-3140-3p	CLIP-seq
MIRT2543205	hsa-miR-3142	CLIP-seq
MIRT1035281	hsa-miR-3150a-3p	CLIP-seq
MIRT2543206	hsa-miR-3158-5p	CLIP-seq
MIRT1035282	hsa-miR-3162-5p	CLIP-seq
MIRT1035283	hsa-miR-3175	CLIP-seq
MIRT2006948	hsa-miR-3616-3p	CLIP-seq
MIRT2437505	hsa-miR-3660	CLIP-seq
MIRT1035284	hsa-miR-3670	CLIP-seq
MIRT2543207	hsa-miR-3678-3p	CLIP-seq
MIRT1035285	hsa-miR-3689d	CLIP-seq
MIRT2437506	hsa-miR-4256	CLIP-seq
MIRT1035286	hsa-miR-4270	CLIP-seq
MIRT1035287	hsa-miR-4278	CLIP-seq
MIRT2543208	hsa-miR-4281	CLIP-seq
MIRT1035288	hsa-miR-4300	CLIP-seq
MIRT1035289	hsa-miR-4441	CLIP-seq
MIRT2543209	hsa-miR-4446-3p	CLIP-seq
MIRT2006949	hsa-miR-4468	CLIP-seq
MIRT1035290	hsa-miR-4474-3p	CLIP-seq
MIRT2006950	hsa-miR-4481	CLIP-seq
MIRT2543210	hsa-miR-4493	CLIP-seq
MIRT2437507	hsa-miR-4526	CLIP-seq
MIRT2437508	hsa-miR-4640-3p	CLIP-seq
MIRT1035291	hsa-miR-4685-5p	CLIP-seq
MIRT2437509	hsa-miR-4715-3p	CLIP-seq
MIRT1035292	hsa-miR-4716-3p	CLIP-seq
MIRT2543211	hsa-miR-4721	CLIP-seq
MIRT1035293	hsa-miR-4723-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035295	hsa-miR-4739	CLIP-seq
MIRT2543212	hsa-miR-4740-3p	CLIP-seq
MIRT2006951	hsa-miR-4745-5p	CLIP-seq
MIRT2543213	hsa-miR-4747-5p	CLIP-seq
MIRT1035296	hsa-miR-4756-5p	CLIP-seq
MIRT2543214	hsa-miR-4758-3p	CLIP-seq
MIRT2543215	hsa-miR-4760-5p	CLIP-seq
MIRT2437510	hsa-miR-4776-3p	CLIP-seq
MIRT1035297	hsa-miR-615-5p	CLIP-seq
MIRT1035298	hsa-miR-659	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT1035300	hsa-miR-920	CLIP-seq
MIRT1035301	hsa-miR-939	CLIP-seq
MIRT2543202	hsa-miR-1224-3p	CLIP-seq
MIRT2437502	hsa-miR-1237	CLIP-seq
MIRT2543203	hsa-miR-1245b-5p	CLIP-seq
MIRT2543204	hsa-miR-1304	CLIP-seq
MIRT1035277	hsa-miR-1321	CLIP-seq
MIRT2006946	hsa-miR-1470	CLIP-seq
MIRT1035278	hsa-miR-2054	CLIP-seq
MIRT2006947	hsa-miR-2467-3p	CLIP-seq
MIRT2437503	hsa-miR-3064-3p	CLIP-seq
MIRT1035279	hsa-miR-3119	CLIP-seq
MIRT2437504	hsa-miR-3127-3p	CLIP-seq
MIRT1035280	hsa-miR-3140-3p	CLIP-seq
MIRT2543205	hsa-miR-3142	CLIP-seq
MIRT1035281	hsa-miR-3150a-3p	CLIP-seq
MIRT2543206	hsa-miR-3158-5p	CLIP-seq
MIRT1035282	hsa-miR-3162-5p	CLIP-seq
MIRT1035283	hsa-miR-3175	CLIP-seq
MIRT2006948	hsa-miR-3616-3p	CLIP-seq
MIRT2437505	hsa-miR-3660	CLIP-seq
MIRT1035284	hsa-miR-3670	CLIP-seq
MIRT2543207	hsa-miR-3678-3p	CLIP-seq
MIRT1035285	hsa-miR-3689d	CLIP-seq
MIRT2437506	hsa-miR-4256	CLIP-seq
MIRT1035286	hsa-miR-4270	CLIP-seq
MIRT1035287	hsa-miR-4278	CLIP-seq
MIRT2543208	hsa-miR-4281	CLIP-seq
MIRT1035288	hsa-miR-4300	CLIP-seq
MIRT1035289	hsa-miR-4441	CLIP-seq
MIRT2543209	hsa-miR-4446-3p	CLIP-seq
MIRT2006949	hsa-miR-4468	CLIP-seq
MIRT1035290	hsa-miR-4474-3p	CLIP-seq
MIRT2006950	hsa-miR-4481	CLIP-seq
MIRT2543210	hsa-miR-4493	CLIP-seq
MIRT2437507	hsa-miR-4526	CLIP-seq
MIRT2437508	hsa-miR-4640-3p	CLIP-seq
MIRT1035291	hsa-miR-4685-5p	CLIP-seq
MIRT2437509	hsa-miR-4715-3p	CLIP-seq
MIRT1035292	hsa-miR-4716-3p	CLIP-seq
MIRT2543211	hsa-miR-4721	CLIP-seq
MIRT1035293	hsa-miR-4723-5p	CLIP-seq
MIRT1035294	hsa-miR-4728-5p	CLIP-seq
MIRT1035295	hsa-miR-4739	CLIP-seq
MIRT2543212	hsa-miR-4740-3p	CLIP-seq
MIRT2006951	hsa-miR-4745-5p	CLIP-seq
MIRT2543213	hsa-miR-4747-5p	CLIP-seq
MIRT1035296	hsa-miR-4756-5p	CLIP-seq
MIRT2543214	hsa-miR-4758-3p	CLIP-seq
MIRT2543215	hsa-miR-4760-5p	CLIP-seq
MIRT2437510	hsa-miR-4776-3p	CLIP-seq
MIRT1035297	hsa-miR-615-5p	CLIP-seq
MIRT1035298	hsa-miR-659	CLIP-seq
MIRT1035299	hsa-miR-885-3p	CLIP-seq
MIRT1035300	hsa-miR-920	CLIP-seq
MIRT1035301	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001834	Process	Trophectodermal cell proliferation	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0002265	Process	Astrocyte activation involved in immune response	IEA
GO:0002265	Process	Astrocyte activation involved in immune response	ISS
GO:0002282	Process	Microglial cell activation involved in immune response	IEA
GO:0002282	Process	Microglial cell activation involved in immune response	ISS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	12526812, 16189514, 21078624, 21092856, 21516116, 21653829, 21988832, 23088713, 23236149, 24070898, 25416956, 25839164, 25910212, 26370502, 27789271, 28453791, 28493053, 28541286, 29892012, 31515488, 32296183, 32814053, 33961781, 35140242
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IDA	21092856, 26370502
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	20479936
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IDA	26370502, 28073925, 28541286, 28743268
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	21092856
GO:0005768	Component	Endosome	IDA
GO:0005770	Component	Late endosome	IDA	26370502
GO:0005783	Component	Endoplasmic reticulum	IDA	26370502, 28073925
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	28073925
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005802	Component	Trans-Golgi network	ISS
GO:0005886	Component	Plasma membrane	IDA	21092856
GO:0007040	Process	Lysosome organization	IEA
GO:0007040	Process	Lysosome organization	ISS
GO:0007041	Process	Lysosomal transport	IEA
GO:0007041	Process	Lysosomal transport	IMP	28541286
GO:0007041	Process	Lysosomal transport	ISS
GO:0007042	Process	Lysosomal lumen acidification	IMP	28073925
GO:0007165	Process	Signal transduction	NAS	1542665
GO:0007566	Process	Embryo implantation	IEA
GO:0008083	Function	Growth factor activity	TAS	1542665
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	ISS
GO:0016020	Component	Membrane	IDA	28073925
GO:0030335	Process	Positive regulation of cell migration	IMP	27571908
GO:0031982	Component	Vesicle	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	18378771
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	ISS
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045824	Process	Negative regulation of innate immune response	IEA
GO:0048680	Process	Positive regulation of axon regeneration	IEA
GO:0048680	Process	Positive regulation of axon regeneration	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	12526812
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050727	Process	Regulation of inflammatory response	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050821	Process	Protein stabilization	IMP	28453791
GO:0051087	Function	Protein-folding chaperone binding	IDA	27789271
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060266	Process	Negative regulation of respiratory burst involved in inflammatory response	IDA	12526812
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0099558	Process	Maintenance of synapse structure	IEA
GO:0106016	Process	Positive regulation of inflammatory response to wounding	IEA
GO:0106016	Process	Positive regulation of inflammatory response to wounding	ISS
GO:0150053	Component	Cerebellar climbing fiber to Purkinje cell synapse	IEA
GO:1900426	Process	Positive regulation of defense response to bacterium	IEA
GO:1900426	Process	Positive regulation of defense response to bacterium	ISS
GO:1902564	Process	Negative regulation of neutrophil activation	IDA	12526812
GO:1903334	Process	Positive regulation of protein folding	IEA
GO:1903334	Process	Positive regulation of protein folding	ISS
GO:1903979	Process	Negative regulation of microglial cell activation	IEA
GO:1903979	Process	Negative regulation of microglial cell activation	ISS
GO:1904075	Process	Positive regulation of trophectodermal cell proliferation	IEA
GO:1905146	Process	Lysosomal protein catabolic process	IEA
GO:1905247	Process	Positive regulation of aspartic-type peptidase activity	IMP	28453791
GO:1905247	Process	Positive regulation of aspartic-type peptidase activity	ISS
GO:1905671	Process	Regulation of lysosome organization	IEA
GO:1905673	Process	Positive regulation of lysosome organization	IDA	28073925
GO:1905673	Process	Positive regulation of lysosome organization	IEA

Other IDs

• MIM: 138945
• HGNC: 4601
• e!Ensembl: ENSG00000030582

Protein

• UniProt ID: P28799
• Protein name: Progranulin (PGRN) (Acrogranin) (Epithelin precursor) (Glycoprotein of 88 Kda) (GP88) (Glycoprotein 88) (Granulin precursor) (PC cell-derived growth factor) (PCDGF) (Proepithelin) (PEPI) [Cleaved into: Paragranulin; Granulin-1 (Granulin G); Granulin-2 (Gr
• Protein function: Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:12526812, PubMed:18378771, PubMed:28073925, PubMed:28453791, PubMed:28541286). Regu
• PDB: 1G26, 2JYE, 2JYT, 2JYU, 2JYV, 6NUG, 8T8R, 8T8S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00396	Granulin	72 → 113	Granulin	Family
  PF00396	Granulin	138 → 179	Granulin	Family
  PF00396	Granulin	220 → 261	Granulin	Family
  PF00396	Granulin	295 → 336	Granulin	Family
  PF00396	Granulin	377 → 417	Granulin	Family
  PF00396	Granulin	455 → 496	Granulin	Family
  PF00396	Granulin	532 → 573	Granulin	Family

• Tissue specificity: TISSUE SPECIFICITY: In myelogenous leukemic cell lines of promonocytic, promyelocytic, and proerythroid lineage, in fibroblasts, and very strongly in epithelial cell lines. Present in inflammatory cells and bone marrow. Highest levels in kidney.
• Sequence:

  MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGP
  CQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNS
  VGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCEDRVHCCPHGAFCDLVHTRCIT
  PTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCC
  SDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQ
  SGAWGCCPFTQAVCCEDHIHCCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQAL
  KRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDHQHCCPQGYTCVAEGQCQRGS
  EIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQH
  CCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQG
  WACCPYRQGVCCADRRHCCPAGFRCAARGTKCLRREAPRWDAPLRDPALRQLL

• Sequence length: 593

Pathways

Reactome:

Neutrophil degranulation

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
Alzheimer disease	Likely pathogenic	rs1567885728	RCV000736249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 10	Pathogenic	rs63751180	RCV002463638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cognitive impairment	Pathogenic	rs794729671	RCV005646874	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia	Pathogenic; Likely pathogenic	rs63751035, rs794729672, rs794729669, rs63749817, rs794729670, rs193026789, rs794729671, rs63749801, rs1567885658, rs1567886206, rs1567886445, rs1567886478, rs1567887015, rs1567887777, rs1567888461	RCV000736250 RCV000185614 RCV000185610 RCV000185615 RCV000185611 RCV000185612 RCV000185613 RCV000736253 RCV000736257 RCV000736256 RCV000736247 RCV000736254 RCV000736248 RCV000736251 RCV000736255 RCV000736252	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GRN-related disorder	Pathogenic; Likely pathogenic	rs2510058230, rs2510054791, rs63749801, rs63751294, rs2048372980, rs1555611293, rs1567885658	RCV004552448 RCV004552460 RCV003478976 RCV004755740 RCV004548868 RCV004553130 RCV004547944	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Pathogenic; Likely pathogenic	rs63750313, rs63751057, rs63749844, rs63751092, rs63751166, rs63750411, rs63750247, rs63749817, rs63750548, rs63751035, rs63751296, rs63751177, rs63750707, rs63750873, rs63751406, rs63749905, rs63750805, rs63751180, rs63749908, rs63751085, rs63750373, rs2048353899, rs777211749, rs2143342203, rs2143325096, rs2143344360, rs2143340416, rs2143337849, rs746037872, rs1191556044, rs2510054676, rs2510054721, rs750312986, rs2510055635, rs63751698, rs2510055566, rs794729672, rs794729670, rs2510058297, rs2510054484, rs2510054566, rs2510057150, rs2510057446, rs2510054302, rs2510056456, rs2044779598, rs2510056360, rs2510055303, rs2510057977, rs2510057451, rs2510054161, rs2510054675, rs2510057852, rs2510054318, rs63750077, rs63751006, rs63750331, rs606231220, rs63749801, rs606231221, rs63751243, rs63751294, rs63749877, rs1141754, rs2510054336, rs2143337085, rs1555611256, rs1555610855, rs1555611136, rs1555611154, rs1555611253, rs1555611293, rs1555611412, rs1392550887, rs1567887496, rs778599933, rs1567885728, rs1567887004, rs1598364961, rs1598362746, rs1598363083, rs1598363490, rs1598364296, rs1598364782, rs2048359069	RCV001089936 RCV004786363 RCV001049316 RCV002281920 RCV000995779 RCV000767861 RCV002514497 RCV001384760 RCV000704513 RCV000995785 RCV000699101 RCV001854477 RCV000697778 RCV005414321 RCV005222751 RCV000017389 RCV001384761 RCV000995559 RCV000989929 RCV000995782 RCV003764781 RCV001389661 RCV001384779 RCV001872638 RCV002037823 RCV001970022 RCV001996070 RCV001953608 RCV002047593 RCV002267555 RCV003064458 RCV003064459 RCV002578950 RCV002512431 RCV003112381 RCV002613498 RCV001852413 RCV000503399 RCV001254078 RCV002695461 RCV002791443 RCV002797068 RCV002842324 RCV002833411 RCV002876284 RCV003032940 RCV003035999 RCV003036084 RCV003783718 RCV003783719 RCV003781416 RCV003789585 RCV003795646 RCV003805373 RCV003805266 RCV000017380 RCV000017381 RCV000017382 RCV000017383 RCV000017384 RCV000017385 RCV000017386 RCV000017387 RCV000017393 RCV004576122 RCV004577092 RCV000022595 RCV000504273 RCV005222987 RCV003766923 RCV003766924 RCV001218285 RCV002527479 RCV000650260 RCV000650259 RCV000690502 RCV000822240 RCV001869013 RCV000989928 RCV002550639 RCV000995778 RCV000995780 RCV000995781 RCV000995783 RCV000995558 RCV001220665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Pathogenic; Likely pathogenic	rs2143337085, rs1567887777	RCV005888648 RCV005897272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis 11	Pathogenic; Likely pathogenic	rs63749844, rs63750411, rs63750247, rs63749817, rs63750548, rs63751296, rs63751177, rs63750707, rs63751406, rs63749905, rs63750805, rs63751180, rs63751085, rs63750373, rs2048353899, rs777211749, rs2143342203, rs2143325096, rs2143344360, rs2143340416, rs2143337849, rs746037872, rs2510054676, rs2510054721, rs750312986, rs63751698, rs2510055566, rs794729672, rs2510058297, rs2510054484, rs2510054566, rs2510057150, rs2510057446, rs2510054302, rs2510056456, rs2044779598, rs2510056360, rs2510055303, rs2510057977, rs2510057451, rs2510054161, rs2510054675, rs2510057852, rs2510054318, rs63751006, rs63749801, rs606231221, rs63751243, rs63751294, rs63749877, rs1555610855, rs1555611136, rs1555611154, rs1555611253, rs1555611293, rs1555611412, rs1392550887, rs1567887496, rs778599933, rs1567885728, rs1567887004, rs1598364961, rs1598363083, rs2048359069	RCV001049316 RCV001291777 RCV002514497 RCV001384760 RCV000704513 RCV000699101 RCV001854477 RCV000697778 RCV005222751 RCV001854478 RCV001384761 RCV001390599 RCV001064002 RCV003764781 RCV001389661 RCV001384779 RCV001872638 RCV002037823 RCV001970022 RCV001996070 RCV001953608 RCV002047593 RCV003064458 RCV003064459 RCV002578950 RCV003112381 RCV002613498 RCV001852413 RCV003765160 RCV002695461 RCV002791443 RCV002797068 RCV002842324 RCV002833411 RCV002876284 RCV003032940 RCV003035999 RCV003036084 RCV003783718 RCV003783719 RCV003781416 RCV003789585 RCV003795646 RCV003805373 RCV003805266 RCV002513073 RCV002513074 RCV002513075 RCV001851887 RCV001039647 RCV000029169 RCV005222987 RCV003766923 RCV003766924 RCV001218285 RCV002527479 RCV000650260 RCV000650259 RCV000690502 RCV000822240 RCV001869013 RCV005414333 RCV002550639 RCV001858821 RCV001220665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinsonian disorder	Pathogenic	rs1003823098	RCV002251715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary progressive aphasia	Pathogenic	rs63750548	RCV001824019	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs63750411	RCV005887702	★★★★☆ 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
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 10	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 11	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLN11 DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA 2	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia and/or amyotrophic lateral sclerosis	Uncertain significance	ClinVar ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic stroke	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID LIPOFUSCINOSIS	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abulia	Abulia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	21177436		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28456055, 29296230		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	21335363		★☆☆☆☆ Found in Text Mining only
Alexia	Alexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18551524, 19158106, 19625741, 19683260, 19776335, 20142524, 20142525, 20197700, 21047645, 21971039, 22312439, 22459598, 23396349, 23543794, 24899141, 27997711, 28286146, 28473694, 29044416, 30482868, 30921613, 31182772, 31810826, 33152005, 34374777, 34854996, 35258170, 35650585, 35752680, 35810449, 36191742, 36504281, 36759259, 37459659, 37525358, 37895139, 40050982, 40055834	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer Disease	Alzheimer disease	Pubtator	21047645, 29559004	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer Disease	Alzheimer disease	Pubtator	31864418	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	19679189		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	25261995, 26820675		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28070672		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17371905, 17383054, 17764635, 18184915, 18759352, 18838661, 19632744, 22105541, 22361451, 22366795, 22477152, 22532172, 23596077, 24011641, 25182743, 25398946, 25578179, 26581300, 26971930, 27819158, 28472860, 28916533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	17371905, 20142524, 22083254, 23596077, 30572951, 36264717	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	18184915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	24387985		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30444070, 30454027		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29230494		★☆☆☆☆ Found in Text Mining only
Anomia	Anomia	BEFREE	18781435		★☆☆☆☆ Found in Text Mining only
Anomia	Anomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28300056, 30010122		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	30010122	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28300056, 30010122		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	18234697, 20713949, 21689671, 23596077, 31448566	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	21689671, 23596077		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia, Progressive	Aphasia	BEFREE	22280948		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	17436289, 27767988		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	31448566, 35790423	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24098801, 28120721, 29863272, 29956285, 30212683		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	12931033		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	20506400, 21393509, 24896343, 27527809, 28011648, 29258611, 29956284		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	23543794	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20506400, 26339140	Associate	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	29258611		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29717106	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31758561		★☆☆☆☆ Found in Text Mining only
Asthma, Occupational	Asthma	BEFREE	29717106		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	24779634, 34130600	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24098801, 28120721, 29863272, 29956285, 30212683		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24098801	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	16983677, 18234697, 19255408, 20045477, 23687363, 24449064, 26507310, 26791154, 26852323, 27003218, 28430294, 31918955, 33112398, 35964197	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	25683866	Stimulate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	18413474	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23543794, 27527809, 28011648, 29475178, 31099551, 31467413		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	23543794, 33152005	Associate	★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	23596077	Associate	★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	17522386, 22366770, 23596077, 23624518, 24022032, 25261445, 27814992, 30704514, 30921613		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	ORPHANET_DG	23392204, 23597030		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	Orphanet			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	22505994, 24499389, 28225367, 28664756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22505994, 24499389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	22505994, 28664756	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	24499389		★☆☆☆☆ Found in Text Mining only
Bipolar II disorder	Bipolar Disorder	BEFREE	24499389		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19237611, 25839164		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17900349	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	22505994		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	20045477, 21753165, 22366795, 25317628, 25683866, 27003218, 29146050		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21753165, 34130600	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	33969679	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10066447, 10760271, 11134521, 12973694, 15117809, 22176685, 25991501, 30323673, 30357709, 30454027		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10760271, 11134521, 21658239, 22176685, 22316048, 24641868, 25033727, 33618683, 40594370	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27501955, 31928925, 34428050	Stimulate	★☆☆☆☆ Found in Text Mining only
Broca Aphasia	Broca Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	22505994		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24009671, 25033727, 31023186, 31895802, 32417448, 33618683	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33411849	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29340960, 30939191		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	21658239, 22316048	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22792281, 25115442, 25885205, 26173068, 26350749, 28601093, 34002672	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19237611, 25839164		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	17159500		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10397269		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	15139056	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37762031	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25033727, 27571908, 32351136, 32372702, 33671013	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12538450, 17203169, 17261172, 19863344, 23878295, 26804165, 31713081		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27332749		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32781905	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	31837341		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	31855245	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	26977398		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	19020205, 20045477, 21753165, 22366795, 25317628, 25683866, 27003218, 29146050		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	19020205		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	23972823, 31640144		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	24005336	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	29370838		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31356182, 31679689		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	26159191		★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 11	Ceroid Lipofuscinosis Neuronal	CLINVAR_DG	16862116, 16950801, 17202431, 17334266, 17439980, 18183624, 20142524, 21482928, 22608501, 22647257, 23338682, 27258413, 28264768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 11	Ceroid Lipofuscinosis Neuronal	ORPHANET_DG	22608501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 11	Ceroid Lipofuscinosis Neuronal	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 11	Ceroid Lipofuscinosis Neuronal	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	26600492, 6093357		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19816559, 29403285		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29499059		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31200555		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	29999528		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	35799292	Associate	★☆☆☆☆ Found in Text Mining only
CLN11 disease	Neuronal Ceroid Lipofuscinosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNS disorder	CNS Disorder	BEFREE	28854563, 30939191		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23390180, 25002573, 25261995, 29096020		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24064467, 24779634, 30482868, 31855245, 38415376	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	19683260, 20142525, 37895139	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	37348248	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25387791		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28412748, 29754471, 29866109, 30193961, 30378010, 31361391		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23748022, 28412748, 29754471, 30378010, 31361391, 34208547	Associate	★☆☆☆☆ Found in Text Mining only
Compulsive hoarding	Compulsive Hoarding	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29403285		★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Myasthenic Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Corticobasal degeneration	Corticobasal Degeneration	BEFREE	18245784, 19683260, 21908872		★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	18322394, 19683260, 19876635, 20142524, 21863316, 26852323, 26961809, 28473694, 29926172, 30921613, 35859258	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	29742186, 30081113, 30500144		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	26853108, 27527809, 28609022, 29258611, 29956284, 30488982		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	16862115, 16950801, 16983677, 17345602, 17417739, 17436289, 17439980, 17458552, 17522386, 17620546, 18183624, 18322394, 18378771, 18723524, 18955727, 19012866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	16983685, 19158106, 20142525, 21047645, 22312439, 23463024, 23759146, 24005336, 25188321, 26961809, 27632209, 27997711, 28189700, 29476165, 30530974, 33112398, 33203472, 35120450, 35859258, 36538154, 37328865, 37330543, 37895139	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	17168647, 17436289, 17522386, 18723524, 19640594, 19683260, 19795409, 20187245, 20387302, 20930271, 21047645, 21346515, 21677378, 22312439, 22348647, 22608501, 23478307, 23724906, 24005336, 24018267, 24993774, 25546130, 26159191, 26682689, 26961809, 27163816, 27997711, 28404863, 29889573, 30510257, 30599136, 30921613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	CTD_human_DG	17436289, 18543312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia, Vascular	Dementia	BEFREE	30954774		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	21613335, 30112957	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	20400120, 20667979, 22895706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	BEFREE	25626394		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	23543794, 27239673, 31091001		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	28166781		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27527809, 28120721		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27527809, 28120721		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19056610	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30118483, 32620998	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31423598		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19056610, 28120721, 30118483, 30333553		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31285425, 31402399		★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	19255408	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28823651, 28854563		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	19056610		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	19056610, 37582372	Associate	★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	BEFREE	27767988		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphonia	Dysphonia	Pubtator	35859258	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	35790423	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	LHGDN	12931033		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	30939191		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33029756	Inhibit	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	21172844	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31227312		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	12538450, 17203169, 23878295, 31713081		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29452214		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29452214		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25015989	Associate	★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	CTD_human_DG	17436289, 18543312		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	25546130, 26852323, 30323673		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28120721, 31591383		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31591383		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	29096020		★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	16862115, 16862116, 16950801, 16983677, 17003069, 17030535, 17071926, 17168647, 17202431, 17278999, 17334266, 17345602, 17353379, 17371905, 17417739, 17436289, 17439980, 17458552, 17522386, 17591968, 17620546, 17659186, 17698705, 17949857, 17953663, 17984093, 18157829, 18183624, 18184915, 18245784, 18314228, 18322394, 18378771, 18442119, 18464284, 18703462, 18723524, 18771956, 18855025, 19012866, 19016491, 19473366, 19618231, 19649643, 19659892, 19776335, 19884572, 20026663, 20028451, 20087814, 20142524, 20154673, 20369906, 20479936, 20711061, 20717853, 20858962, 20930269, 20933034, 20947212, 21047645, 21092856, 21154232, 21343707, 21482928, 21677378, 21753165, 21753175, 21813674, 21863316, 21908872, 22072213, 22083254, 22105541, 22280948, 22355793, 22366770, 22366795, 22411238, 22502998, 22511793, 22623979, 22819134, 23041626, 23063362, 23158232, 23478307, 23813535, 24005336, 24035620, 24040338, 24064467, 24163244, 24246281, 24252750, 24286341, 24309270, 24385136, 24387985, 24442578, 24494724, 24569924, 24619111, 24800652, 24861427, 24898651, 24943344, 24993774, 24998994, 25085782, 25182743, 25317628, 25398946, 25556567, 25580532, 25624003, 25683866, 25765123, 26021560, 26159191, 26555887, 26624524, 26674655, 26682689, 26724960, 26827655, 26971930, 26973102, 27003218, 27082848, 27143419, 27166223, 27258413, 27311648, 27356620, 27358337, 27435172, 27625986, 27760429, 28069809, 28153380, 28268100, 28304311, 28330615, 28379303, 28404863, 28435163, 28438992, 28453791, 28462717, 28594853, 28664756, 28712747, 28720486, 28728022, 28749476, 28888721, 28903038, 28916533, 29020091, 29036611, 29053785, 29146050, 29226876, 29378861, 29382817, 29398357, 29480174, 29511098, 29520145, 29530724, 29555433, 29578490, 29724592, 29889066, 29889573, 29929528, 29956270, 29956271, 29984158, 30010122, 30013506, 30111356, 30112957, 30326935, 30448285, 30475763, 30508042, 30559071, 30582188, 30630176, 30704514, 30739198, 30782973, 30954774, 31019994, 31119452, 31237618, 31262553, 31330099, 31361008, 31600775, 31626287, 31639062, 31701893, 31810826, 31835286		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	16983677, 16983685, 17371905, 17522386, 17591968, 17949857, 18183624, 18322394, 18359860, 18723524, 19158106, 19683260, 19776335, 20012109, 20142524, 20142525, 20711061, 20930269, 21047645, 21220649, 21232819, 21454553, 21753165, 21892619, 21971039, 22083254, 22366795, 22509390, 22623979, 22819134, 23063362, 23596077, 23742080, 23759146, 24005336, 24040338, 24064467, 24163244, 24286341, 24385136, 24709683, 24943344, 25188321, 25239657, 25261445, 25556567, 25580532, 25662776, 25683866, 25765123, 26624524, 26724960, 26836150, 26977398, 27003218, 27082848, 27143419, 27258413, 27581216, 27625986, 27632209, 28264768, 28268100, 28330615, 28460069, 28529873, 28594853, 28664756, 28712747, 28749476, 29020091, 29036611, 29146050, 29172163, 29440230, 29476165, 29555433, 29584904, 29653316, 29845007, 29889066, 30010122, 30094168, 30111356, 30112957, 30292090, 30475763, 30508042, 30704514, 30711674, 30739198, 30847466, 30921613, 31019994, 31330099, 31361008, 31600775, 31636026, 31701893, 31810826, 31835286, 31855245, 31864418, 31914217, 31914226, 31937580, 32171590, 32344399, 32843152, 33112398, 33122395, 33152005, 33221702, 33404617, 33418170, 33421065, 33427744, 33452053, 33857770, 33895632, 33896652, 34130600, 34344473, 34353857, 34374777, 34444269, 34559230, 34561610, 34620513, 34633446, 34664612, 34743360, 34838088, 34918030, 35348856, 35483895, 35584922, 35752680, 35799292, 35810449, 35859258, 35948443, 35950369, 35964197, 36045450, 36264717, 36499048, 36513817, 36799407, 36827976, 36895129, 37003407, 37054899, 37348248, 37476993, 37491327, 38040703, 38203682, 39185427, 39284109, 39321401, 40055834, 40063407, 40183420	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia	Frontotemporal dementia	GENOMICS_ENGLAND_DG	17923627		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia	Frontotemporal dementia	CTD_human_DG	21454553, 22028881		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	23063362	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia	Frontotemporal dementia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	16950801, 17030534, 17030535, 17228326, 17291356, 17334266, 17572900, 17698705, 17764635, 17805587, 17826340, 17917583, 17923627, 17950702, 17953663, 17984093, 18183624, 18192287, 18223198, 18234697, 18328591, 18378771, 18392865, 18479928, 18543312, 18565828, 18593276, 18684309, 18752597, 18768919, 18781435, 18838661, 18855025, 19049508, 19101631, 19139911, 19158106, 19288468, 19446372, 19618231, 19625741, 19640594, 19649643, 19674067, 19683260, 19821908, 19847305, 19858458, 19876635, 19884572, 19940479, 20061636, 20369906, 20387302, 20412296, 20479359, 20522652, 20711061, 20737593, 20930271, 20938042, 20947212, 20975516, 21087763, 21092856, 21154232, 21178100, 21289198, 21311163, 21482928, 21626010, 21645364, 21691802, 21762097, 21800185, 21863316, 21891865, 21891869, 22032330, 22123177, 22338605, 22348647, 22355793, 22366770, 22411238, 22477152, 22527778, 22532172, 22608501, 22623979, 22647257, 22797721, 22818528, 22859297, 22890101, 22986778, 23136129, 23338682, 23396349, 23419701, 23463024, 23609919, 23724906, 24011980, 24018267, 24022032, 24081456, 24139281, 24163244, 24252647, 24286341, 24469240, 24494724, 24503614, 24619111, 24709683, 24861427, 24899141, 25022663, 25024321, 25056957, 25261445, 25261995, 25317628, 25578179, 25624003, 25653292, 26021560, 26370502, 26624524, 26652843, 26811050, 26961809, 27138926, 27435172, 27567822, 27767988, 27814992, 27997711, 28070672, 28073925, 28126008, 28174682, 28285794, 28358904, 28430294, 28541286, 28594853, 28647554, 28728022, 28743268, 28835281, 28890134, 28899992, 28903038, 28915852, 29044416, 29053785, 29149899, 29226876, 29370838, 29382817, 29559004, 29578490, 29614680, 29724592, 29744576, 29855382, 29874572, 29956280, 29956283, 30057241, 30180904, 30382371, 30545478, 30696728, 30862089, 31291241, 31361008, 31448566, 31620075, 31626287, 31707213, 31837909		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	CTD_human_DG	20154673		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	Frontotemporal lobar degeneration with Tdp43 inclusions	CLINVAR_DG	16862116, 16950801, 17202431, 17334266, 17439980, 18183624, 20142524, 21482928, 22608501, 22647257, 23338682, 27258413, 28264768		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	Frontotemporal lobar degeneration with Tdp43 inclusions	UNIPROT_DG	16862116, 16983685, 18183624		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	Frontotemporal lobar degeneration with Tdp43 inclusions	BEFREE	17278999, 17334266, 17353379, 17984093, 18442119, 18543312, 19473366, 20142524		★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	Frontotemporal lobar degeneration with Tdp43 inclusions	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	Frontotemporal lobar degeneration with Tdp43 inclusions	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	21612671		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	21707777	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	BEFREE	30265346		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	23543794	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	33411849	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	27515686, 27789271, 29396296, 30341570, 31358474		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	31358474	Inhibit	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600, 36889696	Associate	★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11161003, 12973694, 19237611, 24793792		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19237611, 39185427	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11161003, 12973694, 24793792		★☆☆☆☆ Found in Text Mining only
Glucagonoma	Glucagonoma	BEFREE	26495792		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	21689671	Associate	★☆☆☆☆ Found in Text Mining only
Grammar-specific speech disorder	Grammar-specific speech disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	20045477	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29323121		★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	30896577	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	25885205	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	29790198, 35836354	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	19237611	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	31928925	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23172908		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	27872232		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	26905068, 31274185		★☆☆☆☆ Found in Text Mining only
Hypersexuality state	Hypersexuality	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27332749, 28120721		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	39653186	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	29475178		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23390180, 24064467, 25002573, 25261995, 29096020, 30482868		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25387791		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	25626394		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	20570822	Stimulate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30118483, 32321883	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	26905068		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	25777988, 29312639, 29992506		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31679689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Islet Cell Tumor	Islet Cell Tumor	BEFREE	26495792		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	25607110, 27367257, 29031143, 30282524		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29499059		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	29249935		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	18234697, 18322394, 22491866, 24064467, 31835286, 36538154, 37348248	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	17159500		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	LHGDN	16533762		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	16533762		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26655501, 27359334	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31895802	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12031912		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21177436, 26817437		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	23478307, 23724906, 31127154		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	28003435, 31996268, 35810449	Associate	★☆☆☆☆ Found in Text Mining only
Limb apraxia	Limb apraxia	BEFREE	18192287, 23338682		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	27497155		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15569995		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16685387, 21701774, 22792281, 25315249, 26879559, 26942873, 28601093, 29956274, 29956275, 30301274		★☆☆☆☆ Found in Text Mining only
Localized scleroderma	Scleroderma	BEFREE	30268392		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27527809		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23702100	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27527809		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23140401, 23702100, 27527809, 31804874		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27527809		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19698928, 28823651, 29340960		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	31012492		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	21613335, 28877758, 34544819	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Carcinoid Syndrome	Carcinoid tumor of intestine	BEFREE	20196864		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29323121		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10066447, 10760271, 11134521, 12359772, 12973694, 15117809, 22176685, 25991501, 30323673, 30357709, 30454027		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29452214		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	19237611		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	19795409, 20682318, 25885205, 26942873, 29956275, 30301274, 30413348		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17261172, 19863344, 23878295, 26804165		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19179604, 25365768, 28433812, 30323673, 31722969		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29039535		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19237611, 25839164		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12973694, 19237611, 19863344, 21691802, 22338605, 22792281, 22859297, 24793792, 25317628, 25885205, 26879559, 26942873, 28120721, 28415822, 28601093, 28651064, 29116422, 29340960, 29403285, 29503819, 29956265, 29956271, 29956272, 29956275, 29956276, 30081113, 30454027, 30530405, 31099551, 31200555, 31491449		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31550712		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12914763, 14652816, 16857791		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29742186, 29752733, 30081113, 30500144, 31491449		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	35475908, 36977840	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Memory Disorders	Memory disorders	Pubtator	19766663	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	20400120, 20667979, 22895706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	27345409		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	36471440	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24035620, 29176029		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24971611, 28120721, 31466863, 31469472, 31533348		★☆☆☆☆ Found in Text Mining only
Microangiopathy, Diabetic	Diabetic cardiomyopathy	BEFREE	28120721		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	19683260, 20142525, 20387302, 26159191, 26682689, 29761124		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	19326058		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	22620863		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	32769115	Associate	★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	18378771		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	16862116, 17360763, 17591968, 18183624, 18184915, 18192287, 20012109, 24861427		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	19884572, 21482928, 25239657	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	27163816		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	26495792		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19125015, 28429092		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22072558, 22620863, 27936757, 29797258		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20463744, 26447062, 28100408, 31467413		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21613335	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	31484947	Associate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	20142524	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	29625085		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10397269, 12538450, 16397272, 16533762, 17159500, 19125015, 20489155, 21681495, 24270974, 24793792, 26495792, 26879559, 27185370, 27704598, 28456055, 29039535, 29915428, 29956272, 29956274, 29956276, 30081113, 30301274, 30357709, 30378010, 30608901, 30992703, 31491449, 31533348, 31550712		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	30271659		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	20142525	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28720486, 29340960, 30382371		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20933034, 24139281, 31626287		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25377796	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17898224, 20142524, 21087763, 21454553, 23396349, 25081482, 25175602, 25377796, 26961809, 27435172, 27903606, 27997711, 28189700, 28473694, 29044416, 30482868, 30690031, 31023186, 31182772, 33087363, 33969679, 34035398, 34344473, 35085262, 35810449, 38415376	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29559004	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16862116, 17030535, 17953663, 18234697, 18328591, 18723524, 19940479, 20142524, 20142525, 20387302, 20479936, 20489155, 21087763, 21358643, 21645364, 21677378, 21691802, 22123177, 22348647, 22818528, 23396349, 23398167, 24018267, 24252750, 24652679, 24800652, 25022663, 25578179, 25943890, 26370502, 26682689, 26811050, 26971930, 27760429, 27997711, 28069809, 28073925, 28126008, 28127696, 28174682, 28379303, 28435163, 28728022, 28835281, 28837568, 28903038, 28915852, 29053785, 29378861, 29724592, 29744576, 29874572, 29956281, 30496365, 30690031, 30696728, 30782973, 30862089, 30922528, 31099551, 31330099, 31398187, 31837909		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16862116		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	15477708, 20049409, 21107762, 25430657, 26495792, 27165966, 27788498, 28203088, 28837143, 30265346, 31466863		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	19125015		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	19125015		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	28100408		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	22608501, 22859297, 24619111, 24779634, 25022663, 26370502, 27166223, 28073925, 28404863, 28541286, 28647554, 28743268, 29036611, 29149899, 29378861, 29744576, 29929528, 30180904, 30382371, 30448285, 30559071, 30696728, 30862089, 30922528, 31291241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropsychiatric Systemic Lupus Erythematosus	Neuropsychiatric Systemic Lupus Erythematosus	BEFREE	30939191		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28120721, 30096951		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28518058, 30357709		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31591383		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	24898651		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12973694, 19056610, 22766892, 24035620, 27941174, 28651064, 29226876, 29499059, 29863272, 30118483, 30229554, 31102282, 31237618, 31469472		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19056610, 30118483, 32620998	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30151059	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	31102282		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	BEFREE	28438992		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	28438992, 31818769		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	21658239		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20506400, 32037864	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29717106, 32037864	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31237618		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31237618		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32827035	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	31713081		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12538450, 17261172		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17261172, 19863344, 23878295, 26804165		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12900424, 15139056, 22176685, 24055910, 36430166	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	29765522		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23508014	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	21335363		★☆☆☆☆ Found in Text Mining only
Parietal Foramina	Parietal foramina	Pubtator	18234697	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17923627, 18479928, 18838661, 19473366, 22647257, 23342160, 23398167, 24064467, 24804730, 25578179, 26303052, 29956281		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	18838661		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21482928, 23342160, 25997059, 29653316, 34130600, 35810449, 36504281, 37328865, 40183420	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	17949857, 19683260, 20142525, 20930269, 21892619, 24064467, 28268100, 28430294, 36216226	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	17030535, 17436289, 17949857, 20142525, 20187245, 22366770, 24064467, 24998994, 26891767, 28268100, 29530724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pediatric Obesity	Childhood obesity	BEFREE	29176029, 30151059		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30187338		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29999528		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	16862116, 16950801, 17003069, 17030535, 17202431, 17345602, 17371905, 17417739, 17436289, 17620546, 17698705, 17949857, 17953663, 18157829, 18183624, 18314228, 18322394, 18723524, 18771956, 18855025, 19012866, 19016491, 19776335, 20028451, 20087814, 20479936, 20711061, 20717853, 20933034, 20947212, 21343707, 21908872, 22072213, 22280948, 22366770, 22366795, 22502998, 23063362, 23478307, 23813535, 24064467, 24286341, 24993774, 25182743, 25556567, 25624003, 26021560, 26555887, 26624524, 26674655, 26724960, 26973102, 27003218, 27258413, 27356620, 27760429, 28153380, 28304311, 28330615, 28379303, 28435163, 28438992, 28453791, 28664756, 28712747, 28720486, 28728022, 29053785, 29146050, 29226876, 29378861, 29398357, 29511098, 29520145, 30112957, 30475763, 30508042, 30559071, 30630176, 31237618, 31262553, 31330099, 31639062, 31701893, 31810826, 31835286		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	26905068		★☆☆☆☆ Found in Text Mining only
Posterior cortical atrophy syndrome	Posterior cortical atrophy	BEFREE	25546130, 26852323		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	17436289, 17522386, 18723524, 19640594, 19795409, 20187245, 20387302, 20930271, 21346515, 21677378, 22312439, 22348647, 22608501, 23478307, 23724906, 24005336, 24018267, 24993774, 25546130, 26159191, 26961809, 27163816, 27997711, 28404863, 29889573, 30510257, 30921613		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	17210807, 17522386, 18245784, 19679189, 19766663, 20400120, 20479359, 20947212, 22072213, 23624518, 24449064, 24814951, 25024321, 25765123, 26791154, 27567822, 30599136, 30921613, 30923936		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	LHGDN	17210807, 17522386		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	BEFREE	17003069, 19020205, 19679189, 19766663, 20400120, 21689671, 22647257, 25024321, 28100023, 30013506, 30057241		★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	ORPHANET_DG	23597030		★☆☆☆☆ Found in Text Mining only
Progressive non-fluent aphasia	Progressive Non-Fluent Aphasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	22818528, 26159191, 26891767, 27163816		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy atypical	Progressive supranuclear palsy	Pubtator	20142524	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19179604, 25365768, 28433812, 30323673, 31722969		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	LHGDN	14977833		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19179604		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	19179604		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19179604, 25365768, 32883962	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28211531, 28433812	Stimulate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	25626394, 27239673, 27527809, 31091001		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	25626394		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	24898651		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	30010122, 39284109	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28273689		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	27830341		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	19237611		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31402399		★☆☆☆☆ Found in Text Mining only
Repetitive compulsive behavior	Repetitive compulsive behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	36216226	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28120721		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	31855245	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25607110, 27830341, 31074725, 31492495		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20087814, 20937952, 22505994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20087814, 22505994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	20937952, 22505994	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	24779634, 31855245	Associate	★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	BEFREE	19679189, 28100023, 30013506		★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	CTD_human_DG	21454553, 22028881		★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	ORPHANET_DG	23597030		★☆☆☆☆ Found in Text Mining only
Semantic dementia	Semantic Dementia	Orphanet			★☆☆☆☆ Found in Text Mining only
Senile Paranoid Dementia	Senile Paranoid Dementia	CTD_human_DG	17436289, 18543312		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	28837568		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	28122643	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31108104		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28300056		★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	31376286	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	28946818	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17159500		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18706200		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25015989		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33545567	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	27571908		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31584775		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28245590		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29039535		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21707777	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35880418	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	35842134	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26245842, 30268392, 31108104		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	24861427, 30545478		★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	30341570		★☆☆☆☆ Found in Text Mining only
Temporal cortical atrophy	Temporal cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	10066447, 10760271		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de pointes	Pubtator	26791154, 40063407	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	19125015		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19237611, 21263192, 32417448, 34359965, 36471440	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33671013	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	24270974		★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	23543794	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	24779634	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	19125015		★☆☆☆☆ Found in Text Mining only