AGXT (alanine--glyoxylate aminotransferase)

Gene

• Entrez ID: 189
• Gene name: Alanine--glyoxylate aminotransferase
• Gene symbol: AGXT
• Synonyms (NCBI Gene): AGT, AGT1, AGXT1, PH1, SPAT, SPT, Ser-PyrAT, TLH6
• Chromosome: 2
• Chromosome location: 2q37.3
• Summary: This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34116584	C>A,G,T	Likely-benign, likely-pathogenic, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs61729604	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs111742810	T>A	Pathogenic	Splice donor variant
rs111996685	G>A,C	Pathogenic	Splice donor variant
rs112673831	G>A,C,T	Likely-pathogenic	Splice acceptor variant
rs113681235	T>A,G	Pathogenic	Splice donor variant
rs121908520	T>C	Pathogenic	Coding sequence variant, missense variant
rs121908521	C>G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121908522	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs121908523	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908524	T>A	Pathogenic	Coding sequence variant, missense variant
rs121908525	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908526	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908527	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908528	G>A	Pathogenic	Stop gained, coding sequence variant
rs121908529	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908530	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs138025751	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs138584408	T>C	Pathogenic-likely-pathogenic	Initiator codon variant, missense variant
rs180177155	T>A	Pathogenic	Missense variant, coding sequence variant
rs180177156	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177157	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177158	G>A	Pathogenic	Splice donor variant
rs180177160	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177161	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs180177162	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177163	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177164	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177165	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177166	->CA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177168	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177170	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177171	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177172	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs180177173	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs180177177	G>A	Pathogenic	Splice acceptor variant
rs180177180	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs180177181	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177182	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177183	->TCACACT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177184	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177185	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177186	A>G	Pathogenic	Missense variant, coding sequence variant
rs180177187	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177189	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177190	->GAG	Pathogenic	Inframe insertion, coding sequence variant
rs180177191	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs180177193	->TCCTGGTTG	Pathogenic	Inframe insertion, coding sequence variant
rs180177194	TG>AT	Pathogenic	Missense variant, initiator codon variant
rs180177195	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs180177196	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177197	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177198	G>A	Pathogenic	Stop gained, coding sequence variant
rs180177199	G>T	Pathogenic	Missense variant, coding sequence variant
rs180177200	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177201	CC>-,C,CCC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177202	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs180177203	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs180177207	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs180177208	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177210	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177211	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177213	G>T	Pathogenic	Missense variant, initiator codon variant
rs180177214	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177215	TGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs180177217	G>C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs180177219	A>G	Pathogenic	Splice acceptor variant
rs180177220	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177221	GCTGCTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177222	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177223	T>G	Pathogenic	Missense variant, coding sequence variant
rs180177224	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177225	C>A,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs180177227	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177230	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs180177231	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177232	C>A,G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs180177233	CC>GA	Pathogenic	Missense variant, coding sequence variant
rs180177234	G>A	Pathogenic	Splice acceptor variant
rs180177235	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs180177236	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177237	CATCCC>ATCGGT	Pathogenic	Missense variant, coding sequence variant
rs180177238	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177239	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177240	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177241	C>-,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177243	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177244	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177245	A>G	Pathogenic	Splice acceptor variant
rs180177246	C>A	Pathogenic	Missense variant, coding sequence variant
rs180177247	C>A	Pathogenic	Stop gained, coding sequence variant
rs180177248	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177250	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177251	TCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177252	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177253	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177254	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177255	AAGT>-	Pathogenic	Coding sequence variant, splice donor variant
rs180177256	G>C	Pathogenic	Intron variant
rs180177257	->T	Pathogenic	Frameshift variant, coding sequence variant
rs180177258	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177259	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs180177261	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177262	T>G	Pathogenic	Missense variant, coding sequence variant
rs180177263	G>A	Pathogenic	Stop gained, coding sequence variant
rs180177264	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177265	G>A,C	Pathogenic	Splice donor variant
rs180177267	G>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs180177268	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177269	T>A	Pathogenic	Missense variant, coding sequence variant
rs180177270	CATCA>ACAATCTCAG	Pathogenic	Frameshift variant, coding sequence variant
rs180177271	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177272	A>C	Pathogenic	Missense variant, coding sequence variant
rs180177273	AG>-,AGAG	Pathogenic	Frameshift variant, coding sequence variant
rs180177275	->A	Pathogenic	Frameshift variant, coding sequence variant
rs180177276	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177278	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177279	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177281	G>A,T	Pathogenic	Splice donor variant
rs180177284	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177285	G>C	Likely-pathogenic	Splice acceptor variant
rs180177286	C>A,G,T	Pathogenic	Intron variant
rs180177287	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177288	G>T	Pathogenic	Stop gained, coding sequence variant
rs180177289	GC>CG	Pathogenic	Missense variant, coding sequence variant
rs180177291	GCG>-	Pathogenic	Inframe deletion, coding sequence variant
rs180177292	T>C,G	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs180177293	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177294	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs180177295	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177296	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177297	G>T	Pathogenic	Splice donor variant
rs180177298	G>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs180177299	C>T	Pathogenic	Missense variant, coding sequence variant
rs180177300	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177301	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177302	CTGGCT>-	Pathogenic	Inframe indel, coding sequence variant
rs180177303	A>C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs369664123	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs376844297	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs536352238	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs569643246	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756437332	C>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs767586362	G>A	Pathogenic	Coding sequence variant, missense variant
rs786204545	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs796052057	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs796052058	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052059	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052060	G>T	Pathogenic	Coding sequence variant, missense variant
rs796052061	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052062	G>A	Pathogenic	Coding sequence variant, missense variant
rs796052063	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052064	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs796052065	G>A	Pathogenic	Coding sequence variant, missense variant
rs796052066	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052067	G>T	Pathogenic	Splice donor variant
rs796052068	A>G	Pathogenic	Splice acceptor variant
rs796052069	->A	Pathogenic	Frameshift variant, coding sequence variant
rs796052070	GGAGCCCGAGTGCACCCGATGACCA>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs796052071	CCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs796052072	TG>AA	Pathogenic	Coding sequence variant, missense variant
rs796052073	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs796052074	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052075	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057516896	AAGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553648488	->CTGCA	Pathogenic	Frameshift variant, coding sequence variant
rs1553648493	G>A	Likely-pathogenic	Splice donor variant
rs1553648568	T>A	Likely-pathogenic	Splice donor variant
rs1553648931	CCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGA	Pathogenic	Splice donor variant, intron variant, coding sequence variant, splice acceptor variant
rs1553648979	AGA>-,AGAAGA	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs1553649007	T>G	Likely-pathogenic	Splice donor variant
rs1553649375	AG>-	Likely-pathogenic	Splice acceptor variant
rs1575707182	C>T	Pathogenic	Stop gained, coding sequence variant
rs1575711244	G>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459353	hsa-miR-3926	PAR-CLIP	23592263
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT459352	hsa-miR-548s	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	27292025
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	27292025
MIRT459353	hsa-miR-3926	PAR-CLIP	27292025
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT459352	hsa-miR-548s	PAR-CLIP	27292025
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459353	hsa-miR-3926	PAR-CLIP	23592263
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT459352	hsa-miR-548s	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004760	Function	L-serine-pyruvate transaminase activity	IBA
GO:0004760	Function	L-serine-pyruvate transaminase activity	IDA	10347152
GO:0004760	Function	L-serine-pyruvate transaminase activity	IEA
GO:0005515	Function	Protein binding	IPI	15911627, 22529745, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	1703535, 3709805, 7813517, 9053548, 10960483, 12777626
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	IDA	3418107, 22198249
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006563	Process	L-serine metabolic process	IDA	10347152
GO:0007219	Process	Notch signaling pathway	IEA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IBA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IDA	10960483, 16971151, 17696873, 18492492, 22198249
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IEA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IMP	12777626
GO:0008453	Function	Alanine-glyoxylate transaminase activity	TAS	2363689
GO:0008483	Function	Transaminase activity	IDA	18492492, 20133649
GO:0008483	Function	Transaminase activity	IEA
GO:0009436	Process	Glyoxylate catabolic process	IDA	22198249
GO:0016597	Function	Amino acid binding	IDA	18492492
GO:0016740	Function	Transferase activity	IEA
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IBA
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IDA	22198249
GO:0019448	Process	L-cysteine catabolic process	IDA	18492492
GO:0030170	Function	Pyridoxal phosphate binding	IDA	17696873, 20133649
GO:0030170	Function	Pyridoxal phosphate binding	IMP	15802217
GO:0042802	Function	Identical protein binding	IPI	12899834, 22529745, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	10960483, 12777626, 12899834, 16971151, 20133649
GO:0042853	Process	L-alanine catabolic process	IDA	17696873, 18492492, 22198249
GO:0046487	Process	Glyoxylate metabolic process	IDA	12777626
GO:0046487	Process	Glyoxylate metabolic process	IEA
GO:0046487	Process	Glyoxylate metabolic process	IMP	3709805
GO:0046724	Process	Oxalic acid secretion	IEA

Other IDs

• MIM: 604285
• HGNC: 341
• e!Ensembl: ENSG00000172482

Protein

• UniProt ID: P21549
• Protein name: Alanine--glyoxylate aminotransferase (AGT) (EC 2.6.1.44) (Serine--pyruvate aminotransferase) (SPT) (EC 2.6.1.51)
• Protein function: Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the tr
• PDB: 1H0C, 1J04, 2YOB, 3R9A, 4CBR, 4CBS, 4I8A, 4KXK, 4KYO, 5F9S, 5HHY, 5LUC, 5OFY, 5OG0, 6RV0, 6RV1, 7NS7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00266	Aminotran_5	23 → 376	Aminotransferase class-V	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver.
• Sequence:

  MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEI
  KEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIG
  ARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESSTGVLQPLDGFGELCHRYKCLL
  LVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
  YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHG
  RLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLR
  IGLLGCNATRENVDRVTEALRAALQHCPKKKL

• Sequence length: 392

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs180177207	RCV001814082	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AGXT-related disorder	Pathogenic; Likely pathogenic	rs180177201, rs180177197, rs180177286, rs121908525, rs121908529	RCV003415938 RCV003895168 RCV004755785 RCV004755796 RCV003407286 RCV003407388	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alanine glyoxylate aminotransferase deficiency	Pathogenic	rs180177201	RCV003993816	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac arrhythmia	Likely pathogenic	rs180177272	RCV004539733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperoxaluria	Pathogenic	rs121908530	RCV004798718	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Pathogenic; Likely pathogenic	rs180177227, rs121908523, rs121908525, rs180177161	RCV000662317 RCV000662315 RCV000662316 RCV000662314	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Pathogenic; Likely pathogenic	rs180177227, rs121908523, rs121908525, rs180177161	RCV000662317 RCV000662315 RCV000662316 RCV000662314	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic; Pathogenic	rs2106431706, rs180177201	RCV001849883 RCV001849312	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary hyperoxaluria	Pathogenic; Likely pathogenic	rs180177201, rs180177238, rs180177267, rs180177301, rs180177156, rs138584408, rs34116584, rs180177166, rs180177171, rs180177181, rs180177184, rs180177186, rs180177202, rs796052061, rs180177221, rs180177227, rs180177232, rs180177240, rs180177241, rs180177248, rs111996685, rs180177271, rs180177272, rs180177273, rs180177281, rs180177285, rs180177293, rs121908522, rs121908523, rs121908524, rs121908525, rs121908526, rs121908530, rs2528739362, rs180177239, rs180177185, rs121908529	RCV000779688 RCV003317095 RCV001192774 RCV001194150 RCV001328354 RCV001328117 RCV004700566 RCV001553704 RCV001175458 RCV001174889 RCV004689661 RCV002271450 RCV004700567 RCV003330550 RCV004586609 RCV001192773 RCV003226241 RCV001192775 RCV001824668 RCV001844078 RCV001192772 RCV002307437 RCV003330551 RCV005892154 RCV004525892 RCV000780823 RCV002307438 RCV001269136 RCV004800324 RCV003234894 RCV002509145 RCV000779687 RCV000586265 RCV005237354 RCV002265548 RCV003230866 RCV003324165 RCV005419633 RCV004701090 RCV000589490	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary hyperoxaluria, type I	Pathogenic; Likely pathogenic	rs2106428645, rs1304689724, rs2106430924, rs2106429906, rs113879010, rs767607960, rs180177297, rs180177201, rs180177238, rs2106427288, rs2528749898, rs2106429448, rs2528749663, rs2528740086, rs2528740277, rs2528755991, rs2528740212, rs2528762537, rs180177157, rs180177168, rs180177195, rs180177197, rs180177207, rs180177227, rs180177253, rs180177259, rs786204545, rs180177267, rs180177301, rs180177156, rs1452455390, rs2528766716, rs121908523, rs758493460, rs2528753115, rs138584408, rs180177194, rs180177213, rs180177191, rs34116584, rs180177262, rs180177268, rs180177278, rs180177162, rs180177166, rs180177170, rs180177171, rs180177172, rs180177173, rs180177177, rs180177181, rs180177182, rs796052058, rs796052069, rs180177183, rs180177184, rs180177185, rs180177186, rs796052059, rs180177187, rs180177189, rs180177193, rs180177198, rs796052060, rs180177199, rs180177200, rs180177202, rs180177203, rs796052061, rs180177208, rs138025751, rs796052067, rs113681235, rs796052070, rs180177210, rs180177211, rs180177214, rs180177215, rs180177217, rs180177219, rs180177220, rs180177221, rs180177222, rs180177223, rs180177224, rs180177225, rs180177231, rs180177232, rs180177233, rs180177234, rs180177235, rs180177236, rs180177237, rs180177240, rs180177241, rs180177243, rs180177244, rs796052062, rs180177245, rs180177246, rs536352238, rs180177247, rs180177248, rs180177250, rs180177251, rs180177252, rs180177254, rs111996685, rs111742810, rs180177256, rs1553648931, rs121908527, rs180177257, rs180177258, rs180177261, rs796052072, rs180177263, rs180177264, rs180177265, rs796052068, rs180177269, rs180177270, rs180177271, rs180177272, rs180177273, rs180177276, rs180177279, rs180177281, rs180177286, rs180177285, rs180177287, rs180177288, rs180177292, rs180177293, rs180177294, rs180177295, rs180177296, rs180177298, rs796052063, rs180177299, rs796052074, rs180177300, rs180177302, rs796052064, rs180177303, rs180177155, rs756437332, rs796052065, rs180177158, rs180177160, rs180177161, rs180177163, rs180177164, rs796052066, rs180177255, rs180177289, rs121908520, rs121908521, rs121908522, rs121908524, rs121908525, rs121908526, rs121908528, rs121908530, rs2528744859, rs2528742910, rs2528740066, rs2528766265, rs2528738955, rs2528739939, rs2528739914, rs2528739984, rs2528740306, rs376844297, rs2528742947, rs2528744521, rs2528749754, rs1172393548, rs569680503, rs2528756250, rs1430414907, rs1215010372, rs2528740235, rs2528744408, rs2528766258, rs2528758339, rs2528739107, rs2528756014, rs2528764378, rs2528766345, rs2528766485, rs2528740269, rs2528740471, rs1359760798, rs2528753308, rs1458285200, rs2528738855, rs1171762321, rs1559567942, rs2528740117, rs2528738902, rs1451241481, rs2528742931, rs112910630, rs2528744495, rs1559568801, rs536205988, rs1179823296, rs2528749940, rs2528738978, rs113852309, rs1468909944, rs1575709864, rs750264224, rs1242267009, rs2528753217, rs2528753327, rs112673831, rs2528755914, rs2528756084, rs2528758393, rs2528758415, rs2058978377, rs1057516896, rs121908529, rs1553648568, rs778567956, rs1553649375, rs1553648488, rs1553648493, rs1553649007, rs1553648979, rs2059037657, rs2058986184, rs1400552764, rs2058978388, rs747043550, rs2058986411, rs1193344118	RCV004759721 RCV001785899 RCV001785901 RCV001801326 RCV003470988 RCV004763286 RCV004571733 RCV000128800 RCV000128801 RCV002225245 RCV002308085 RCV002308178 RCV002308247 RCV002309187 RCV002309285 RCV002309366 RCV002307262 RCV002310460 RCV000169102 RCV000169332 RCV000169364 RCV000169219 RCV000169249 RCV000169408 RCV000169046 RCV000169358 RCV000169425 RCV000169258 RCV000169101 RCV000169587 RCV000169365 RCV003465952 RCV003475507 RCV003466000 RCV004572813 RCV002512430 RCV000186271 RCV000186379 RCV000186272 RCV000186274 RCV000186275 RCV000186380 RCV000186276 RCV000186277 RCV000186381 RCV000186278 RCV000186382 RCV000186280 RCV000186383 RCV000186281 RCV000186282 RCV000186370 RCV000186285 RCV000186286 RCV000186287 RCV000186384 RCV000186385 RCV000186288 RCV000186289 RCV000186290 RCV000186291 RCV000186292 RCV000186386 RCV000186293 RCV003445720 RCV000186294 RCV000186295 RCV000186296 RCV000186389 RCV000186297 RCV000186298 RCV000186299 RCV000186300 RCV000186302 RCV000186358 RCV000186359 RCV000186390 RCV000186303 RCV000186304 RCV000186305 RCV000186391 RCV000186306 RCV000186371 RCV000186393 RCV000186392 RCV000186307 RCV000186308 RCV000186394 RCV000186310 RCV000186309 RCV000186311 RCV000186312 RCV000186314 RCV000186315 RCV000186395 RCV000186372 RCV000186316 RCV000186317 RCV000186396 RCV000186397 RCV000186398 RCV000186399 RCV000186318 RCV000186319 RCV000186320 RCV000186373 RCV000186321 RCV000186322 RCV000186323 RCV000186325 RCV000186324 RCV000186326 RCV000186400 RCV000186327 RCV000186328 RCV000186361 RCV000186360 RCV000186362 RCV000186363 RCV000186403 RCV000186329 RCV000186404 RCV000186330 RCV000186405 RCV000186406 RCV000186331 RCV000186332 RCV000186364 RCV000186365 RCV000186374 RCV000186333 RCV000186407 RCV000186334 RCV000186336 RCV000186408 RCV000186410 RCV000186337 RCV000186367 RCV000186366 RCV000186376 RCV000186375 RCV000186339 RCV000186340 RCV000186342 RCV000186343 RCV000186344 RCV000186414 RCV000186345 RCV000186368 RCV000186378 RCV000186377 RCV000186346 RCV000186347 RCV000186415 RCV000186416 RCV000186417 RCV000186348 RCV000186349 RCV000186350 RCV000186351 RCV000186352 RCV000186369 RCV000186353 RCV000186354 RCV000186355 RCV000186419 RCV000186356 RCV000186402 RCV000186412 RCV000005994 RCV000005996 RCV000005997 RCV000005998 RCV000005999 RCV000006000 RCV000006001 RCV000006002 RCV000006003 RCV000006004 RCV003464622 RCV003340894 RCV003445256 RCV003445257 RCV003445259 RCV003445260 RCV003445261 RCV003445264 RCV003445266 RCV003445267 RCV003445269 RCV003445270 RCV003445272 RCV003445273 RCV003445274 RCV003445276 RCV003445278 RCV003467914 RCV003467925 RCV003475609 RCV003476362 RCV003467992 RCV003468000 RCV003468010 RCV003448955 RCV003448956 RCV003448957 RCV003448958 RCV003448959 RCV003448960 RCV003448966 RCV003448967 RCV003448968 RCV003448971 RCV003448972 RCV003468677 RCV003468678 RCV003468680 RCV003468681 RCV003468682 RCV003468683 RCV003468685 RCV003468687 RCV003468688 RCV003468689 RCV003468690 RCV003468691 RCV003468692 RCV003468693 RCV003468694 RCV003468696 RCV003468697 RCV003468698 RCV003468699 RCV003468700 RCV003468701 RCV003468702 RCV003468703 RCV003468704 RCV003468705 RCV003468706 RCV003468707 RCV003468709 RCV003468710 RCV003468711 RCV003468712 RCV003468714 RCV003468717 RCV003468719 RCV004574233 RCV000410991 RCV000032681 RCV000666434 RCV000671808 RCV000669926 RCV000666318 RCV000668336 RCV000674790 RCV000673401 RCV000668762 RCV000674812 RCV000665763 RCV000987078 RCV003145421 RCV002307710 RCV001280544 RCV001263729 RCV001263730 RCV001263731 RCV001263732 RCV001263733 RCV001263734	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPEROXALURIA, PRIMARY, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPEROXALURIA TYPE 1	—	CTD, GenCC, Orphanet CTD, GenCC, Orphanet CTD, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME	Ablepharon macrostomia syndrome	BEFREE	20570668		★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	BEFREE	8961255		★☆☆☆☆ Found in Text Mining only
Acquired angioedema	Angioedema	BEFREE	28818177		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	20361261, 28712073		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	20549134, 31195108		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	17907103		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	24743610, 28270103		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17299068		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31823412		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	7490136		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	21143284, 7792812		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	1381371, 7989494		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	22331379		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	31250582		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	22419722		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	CTD_human_DG	16116425, 17036344		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	UNIPROT_DG	16116425		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	ORPHANET_DG	16116425, 22095942		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	GENOMICS_ENGLAND_DG	24452034		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	BEFREE	25414114		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	15112973, 25594855, 27609653, 31512253		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	31512253		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	31390839		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	28960804, 31181250		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27884212, 29348391	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30215702		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27814735	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30948641		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	16158823		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31490340		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CTD_human_DG	3524928		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	11754397	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	11754397, 30409744		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	37731512	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	CTD_human_DG	17502491		★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	28898997, 29685509		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	11451295	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	11451295	Stimulate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	15131005, 28281389	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	15131005, 16940224		★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	LHGDN	15131005		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	15158002, 31001119		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	20967221	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	15158002, 23892268, 31001119		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	CTD_human_DG	21925196		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	22211965, 23220275, 23967318, 25378412, 25782711, 27045031, 27767064, 27908893, 28062506, 28220880, 28364044, 28500602, 28701309, 29089350, 29794241, 29921611, 30048944, 30614051, 30850299, 31235554, 31583844		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	22588264	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	35602104	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	37822152	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	25767191	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	15694792, 15939823, 17182925, 17579092, 17957103, 18550062, 19580648, 19618151, 20212283, 20472891, 20833395, 22357537, 22570740, 22595380, 22912384, 23087364, 23144462, 23220275, 23446230, 23967318, 24225494, 24358274, 24812324, 24963147, 25024283, 25234817, 25301841, 25349182, 25378412, 25630951, 25876091, 26113112, 26299839, 26318106, 26338301, 26352243, 26974158, 27045031, 27085160, 27363580, 27532120, 27544600, 27634835, 27650558, 27769755, 27815372, 27889204, 27908891, 27956160, 28129470, 28142259, 28179581, 28179583, 28196857, 28357407, 28360209, 28369137, 28420827, 28472123, 28570682, 28683125, 28729364, 28818856, 28860231, 28882868, 28898997, 28935757, 28947615, 28978552, 29047330, 29107003, 29158532, 29166645, 29181036, 29225168, 29234935, 29262630, 29269260, 29290496, 29346401, 29359665, 29396144, 29408196, 29432192, 29437572, 29437576, 29499360, 29658561, 29685509, 29749489, 29777203, 29844152, 29884291, 29943223, 29976759, 30054042, 30074157, 30170221, 30213197, 30302749, 30373483, 30413751, 30417353, 30470363, 30535428, 30535755, 30614051, 30642978, 30686087, 30842407, 30850299, 30864718, 30871334, 30905780, 30935996, 30944205, 30954686, 31071332, 31128093, 31147569, 31189595, 31214845, 31263710, 31445353, 31467666, 31512366, 31534503, 31658493, 31696215, 31699539, 31710686, 31741324		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	CTD_human_DG	16514081, 20937366, 22539767, 25301841		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Ruptured	Aortic Aneurysm	BEFREE	29654907		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	29197606, 29519942		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	21450583		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	31427887	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	35866606	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Rupture	Aortic Rupture	BEFREE	17828285, 26966276, 28450836, 28955046, 29432192, 29777203		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	21316680, 31404429		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	11275936, 19525020, 21316680, 31711153, 8800593		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	22419722		★☆☆☆☆ Found in Text Mining only
Arterial Diseases, Common Carotid	Moyamoya disease	CTD_human_DG	12911327		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	20663844	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10342781, 10532681, 10873620, 11177655, 11486244, 12105167, 12143941, 12767951, 12855411, 14739122, 15123520, 15507206, 15569271, 15662225, 15827742, 15860756, 17004092, 17069818, 17298481, 17336987, 17487826, 17909121, 17984667, 18281370, 19047582, 19129734, 19618151, 19696781, 19762680, 20500895, 20504763, 20945963, 21069739, 21118843, 21292406, 21451528, 21936613, 22287576, 23497386, 23936343, 24614861, 24877885, 24942509, 25360548, 25573199, 26771341, 27168137, 27179719, 27767064, 27881672, 28062506, 28129470, 28207279, 28213977, 28220880, 28283184, 28450836, 28483519, 28646220, 29130930, 29133788, 29166645, 29369845, 29437572, 29484407, 29520165, 29567075, 29590657, 29609002, 29658561, 29705698, 29943232, 30048944, 30170221, 30567480, 30586752, 30776409, 30850299, 30905257, 31050669, 31155290, 31302653, 31390228, 31595199, 9678776		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	16556868	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28653218		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33952303, 34458379	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	31637747		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10200023, 10227270, 15509591, 17103228, 17210045, 17537161, 20068594, 21624492, 28489648, 31062639, 9003211		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22325360, 39380119	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	30383794		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	30383794, 32535722	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	23592774, 28820906, 30715101		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10342781, 10532681, 10873620, 11177655, 11486244, 12143941, 12767951, 12855411, 14739122, 15123520, 15507206, 15569271, 15662225, 15827742, 15860756, 17004092, 17069818, 17298481, 17336987, 17487826, 17909121, 17984667, 18281370, 19047582, 19129734, 19618151, 19696781, 19762680, 20500895, 20504763, 20945963, 21069739, 21118843, 21292406, 21451528, 21936613, 22287576, 23497386, 23936343, 24614861, 24877885, 24942509, 25360548, 25573199, 26771341, 27168137, 27179719, 27767064, 27881672, 28062506, 28129470, 28207279, 28213977, 28220880, 28283184, 28450836, 28483519, 28646220, 29130930, 29133788, 29166645, 29369845, 29437572, 29484407, 29520165, 29567075, 29590657, 29609002, 29658561, 29705698, 29943232, 30048944, 30170221, 30567480, 30586752, 30776409, 30850299, 30905257, 31050669, 31155290, 31302653, 31390228, 31595199, 9678776		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15569271, 16085213, 19592499, 20500895, 20945963, 22796540, 23497386, 23997101, 25573199, 27696667, 28186543, 34292876, 7518396	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17220293		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	CTD_human_DG	21925196, 22539767		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	25250890	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	10851203, 15023884, 18239384, 18322650, 18496132, 19932491, 21436211, 24030498, 24732371, 25172907, 26056004, 26240116, 27179719, 27733466, 28011270, 28639003, 28886992, 28980280, 29507100, 29625277, 30016000, 30241939, 30273558, 30542083, 30636477, 31191333, 31375968, 31408621, 31606204, 31629736, 31700166		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	LHGDN	15023884, 17257983, 18172037, 18496132		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	21436211, 23077077, 25219839, 26240116, 30542083, 35756425	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28323847, 28871102	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31646669		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31646669		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	30719178		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	27082637		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	27082637	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12215901, 20541774, 29052263		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	30088535		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29484407, 30068867		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	14641312		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	7699991		★☆☆☆☆ Found in Text Mining only
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	BEFREE	23748277, 29282632, 29359665		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	31136747		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11027844		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	11027844, 18363708		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	18363708	Associate	★☆☆☆☆ Found in Text Mining only
Bladder neck obstruction	Bladder neck obstruction	BEFREE	29211350		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19190164, 20978160, 24390231		★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	265737, 2724649	Associate	★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	28822966		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	32655579	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18363708	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	15984009, 23933419		★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	27788506	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12010639, 12566298, 15498791, 15802301, 16823505, 16954438, 18395779, 19286759, 21109584, 21638051, 22426690, 22536420, 23092556, 25682288, 28205588, 28807926, 29259013, 30408714, 31142626, 31642813		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21109584, 25077884, 31142626, 31642813, 32663742	Associate	★☆☆☆☆ Found in Text Mining only
Bright Disease	Bright Disease	CTD_human_DG	11459117		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	26172140		★☆☆☆☆ Found in Text Mining only
Bronchospasm	Bronchospasm	BEFREE	21624492		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	23276942	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	27151922	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	22796540	Stimulate	★☆☆☆☆ Found in Text Mining only
Calcinosis cutis	Calcinosis cutis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	27906842		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16600689, 29883780		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25975536, 28430663, 33618227, 35625596, 7961807	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19190164, 20978160, 24390231		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11522624, 14973087, 26376373		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20047954, 29215599, 32144299, 32977573, 38297313	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	23299466, 29121993, 31570446		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30845964		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	12675870, 23943853, 38296564	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	25217633, 35406003, 35726535, 35756425, 36517015, 37488545, 37972803	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	12145768		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28347539, 28588076, 29353218, 30071860, 30359575, 31376367, 31649814, 8869131, 8869132, 9270088		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	35703318	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	35756425	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	12145768		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20945963	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	37822152	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	21047517, 32533462, 35334035, 37445727	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	21163864	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Alcoholic	Cardiomyopathy	CTD_human_DG	22497828		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Alcoholic	Cardiomyopathy	BEFREE	29506687		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	17579251, 29343862, 9270088		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12072425, 28373589, 29240788, 9270088		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	28120210		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	15928721, 9270088		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	10720584		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	CTD_human_DG	25807386		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10097233, 10351920, 10646957, 11106322, 11134677, 11345362, 11463770, 11694220, 11707686, 11773594, 12453540, 12676161, 12743009, 12911327, 12925562, 15496309, 16274774, 16275260, 16492203, 18344243, 19345318, 20433684, 20945963, 21147255, 21490025, 21657802, 21936613, 22429119, 22443458, 22757959, 25225013, 25653183, 26944358, 26987022, 27880950, 27967225, 28108279, 28119074, 28138709, 28261909, 28283184, 28322753, 28384411, 28387887, 28530466, 28708773, 28807582, 28816537, 28847894, 28986948, 29054855, 29101170, 29136335, 29244531, 29369845, 29414040, 29529137, 29609002, 29749551, 29846325, 30036880, 30344664, 30355236, 30409744, 30478747, 30518985, 30654940, 30662355, 30664704, 30719178, 30838022, 30851407, 31079923, 31096810, 31373631, 31607667, 8583476, 9020385, 9657983, 9678776, 9831339		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	11345362, 12938141, 15237001, 15718497, 18403595, 18855268, 18985387, 21449976, 28261909, 28605058, 30719178, 30875817, 31373631, 34292876	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	12669427, 12743009		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	16544732		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26240115	Stimulate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	CTD_human_DG	12911327		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	17298481, 9678776	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	27782101	Stimulate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	10342781, 12911327, 17220293, 17298481, 9678776		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	CTD_human_DG	12911327		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32871819	Associate	★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	CTD_human_DG	1034924		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	27483138	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	28428194		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	25922506		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	17952138, 18446580, 19023100, 29556794		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	LHGDN	17952138		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	17952138, 26352407	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	15472104, 27874975, 30120397		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11754397, 14643574, 17299437, 18363708, 19473121, 20300047, 21124781, 23266545, 24020479, 24732371, 25652270, 25819272, 26588586, 29190633, 30409744, 30521887, 30570091, 30576317, 31127489, 31200003		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	14643574, 17299437		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	11352695, 12743009, 17220293, 21157371, 30048164, 8523390, 9443775		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	17220293	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	27782101	Stimulate	★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	15048132		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22664794, 36158120	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	27989131		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	23352190		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	12767551, 20945963, 28982370, 30341700, 30691552, 31833870		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 3	Kidney Disease	BEFREE	28186543		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10737993, 10916074, 11422735, 11918733, 12187084, 12675870, 12728975, 12950120, 15045574, 16006956, 16105049, 16525944, 19288324, 21163122, 21937979, 22069557, 23065231, 23166630, 25027322, 25660845, 28676854, 30169827, 30343892, 30676254, 9259580, 9291178		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	10916074, 11544438, 16006956, 16396964, 16672053, 16830877, 18550651, 19158350, 19274077, 21640098, 22068875, 22918624, 23535586, 23584256, 24257694, 24907556, 25772015, 26064882, 26090382, 26482465, 27496805, 27826732, 27904154, 27916702, 27982687, 28146117, 28148966, 28358246, 28395289, 28598381, 28747358, 28802945, 28873219, 28878222, 29140821, 29296205, 29425281, 29531290, 29561187, 29873514, 29889834, 30168046, 30403908, 30610209, 30786856, 30898450, 30948820, 30992195, 31010001, 31096810, 31474705, 31498767, 31521117, 31573641, 9259580, 9428470		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	16672053		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28298371, 29775776		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	19236533		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	24257694		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	24257694	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	12414515, 18785976, 19373235, 25398788, 25807386		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15743363, 15941661, 30179652		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	16771832		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	31356784		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	22982863		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	10916074, 19274077	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27271344, 28160390		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29034589		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18704460, 23036011, 25138435, 27965461, 28660748, 31062847, 31478086, 31642377, 9858658		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18181094, 22868256, 23036011, 25428203, 34285715, 34473751	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	16771832		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28169115, 30975293		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31632083		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	15017542		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital posterior urethral valves	Congenital Posterior Urethral Valves	BEFREE	16006956		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10097225, 11056094, 12767551, 1414889, 14769437, 15284191, 15569271, 16475467, 17145981, 17430683, 18279468, 18594050, 18612202, 18641516, 19091790, 20549134, 20945963, 21130950, 21147120, 22939879, 23154270, 23337087, 24145329, 24572548, 24789662, 25036270, 25869724, 26588586, 26699387, 26864319, 26874752, 27000754, 27579618, 27912890, 28139517, 28233239, 28244243, 28283551, 28295363, 28337024, 28371822, 28428194, 28440487, 28475616, 28484118, 28489648, 28587583, 28652105, 28679681, 28862020, 28873219, 28982370, 29038209, 29081650, 29154427, 29244531, 29266804, 29343862, 29369824, 29593122, 29684507, 29744294, 29795262, 29872396, 30103979, 30156128, 30210678, 30256890, 30341700, 30355236, 30369577, 30387679, 30472713, 30481494, 30484834, 30576317, 30626897, 30670148, 30687708, 30691552, 30819382, 30835055, 30881303, 30924021, 31087629, 31186538, 31218508, 31265743, 31430751, 31490340, 31496651, 31498767, 31498903, 31505499, 31521437, 31564129, 31708787, 31718444, 31755934, 31785110, 31833870, 31836539, 8835867, 8872858, 8957547, 9302352, 9486084		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	12025466, 1330361, 20811386		★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	1352575, 16715648, 21143284, 31125081, 7883831, 7980610, 9024263		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	24285684, 25172908, 28872133, 30124805, 31125081, 7980610		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20047954, 7490136		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	30782069		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	30719178		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	30719178	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10097233, 10488958, 10683876, 10862638, 11345362, 12040348, 15599691, 15763077, 16045904, 17846284, 18300856, 18409009, 18653189, 19327134, 19861351, 20547537, 22791700, 22842872, 22986786, 23137822, 23572029, 23666149, 24614861, 24938229, 25955575, 27162064, 27283338, 28382073, 30045724, 30225928, 30912862, 30917708, 7783537, 7850980, 9034401, 9034402, 9254851, 9313606, 9665229, 9822117, 9857918		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10097233, 10488958, 10488959, 10615414, 10683876, 10862638, 11345362, 11393670, 11507973, 12040348, 12574792, 12925562, 15320825, 15563875, 15599691, 16045904, 17336987, 17846284, 18300856, 18409009, 18637188, 18653189, 19327134, 19861351, 20223792, 20529973, 20547537, 20663844, 20854100, 21157371, 21769789, 22791700, 22842872, 23137822, 23497386, 23666149, 24385301, 24614861, 25955575, 26102248, 26588586, 26670794, 27162064, 27283338, 28828324, 30045724, 30225928, 30912862, 30917708, 7783537, 8925576, 9034401, 9034402, 9254851, 9313606, 9665229, 9822117, 9857918, 9893731		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	18409009		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20663844, 23497386, 23943853, 24722536, 27432541, 30912862, 34275374, 36360218, 36421822	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	11345362, 19327134, 22388798, 9034401	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	16088850	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10097233, 10488958, 10615414, 10683876, 10862638, 11082147, 11345362, 12040348, 12925562, 14502296, 15599691, 16045904, 16088850, 17846284, 18300856, 18409009, 18575631, 18653189, 19327134, 19861351, 22791700, 22842872, 23137822, 23666149, 24385301, 24614861, 24965144, 25955575, 27162064, 27283338, 27584680, 30045724, 30225928, 30912862, 30917708, 7783537, 8869131, 9020385, 9034401, 9034402, 9254851, 9313606, 9665229, 9822117, 9857918, 9893731		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	16088850, 18300856, 18575631		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	11849656, 12205735, 28196432, 32093874, 34065198, 36360218	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	20663844		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	20663844, 27432541	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30068867		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	32655579	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17047091, 27014752, 31258663		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	17047091	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	27014752	Inhibit	★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	30480750, 7490136		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	30480750	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	23132846	Associate	★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	29021226		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	29021226		★☆☆☆☆ Found in Text Mining only
Cystinuria	Cystinuria	BEFREE	30342472		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	19376777	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28714028		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	30601161		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29081697		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	16603315, 19550366		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	LHGDN	16603315		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	15949885, 17499413, 18628677		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	15949885, 17499413, 18628677, 24016839, 25131447		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	30633850		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	31195782		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10352194, 10608470, 11938025, 12511525, 12663475, 15516153, 15827742, 15830186, 17004092, 17342175, 19502258, 20304070, 20580725, 20717043, 21487074, 24284398, 24737640, 24910532, 25723521, 26482465, 27168137, 27574914, 28072557, 28468961, 29032706, 29136335, 29258218, 29290979, 29378484, 29390444, 29794446, 29884907, 30126320, 30898450, 30939192, 30978131, 9049480, 9120002, 9950302		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	16520412	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	39397405	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10352194, 10608470, 11938025, 12511525, 12663475, 15516153, 15827742, 15830186, 17004092, 17342175, 19502258, 20304070, 20580725, 20717043, 21487074, 21657802, 23594830, 24284398, 24737640, 24910532, 25723521, 26482465, 27168137, 27574914, 27967225, 28072557, 28378551, 28468961, 28816537, 28862933, 28867244, 29032706, 29038209, 29136335, 29155121, 29258218, 29290979, 29378484, 29390444, 29402797, 29679628, 29794446, 29884907, 30126320, 30190172, 30212681, 30466736, 30898450, 30939192, 30978131, 31682172, 9049480, 9120002, 9950302		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	11422735, 12205735, 16520412, 16556868, 19421330, 20717043, 20814220, 23594830, 24549414, 24737640, 25567748, 34292876, 34669152, 37693342	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24284398	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	18413222, 23657857	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19243623, 19327134, 20592051, 23358739, 23497386, 26682227, 27483138, 27782101, 28488548, 33668947, 8840299	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10499884, 10862638, 14569094, 15983321, 18413222, 19820429, 28324005, 29321380, 29775675, 8593944, 8621207, 8877296, 8918618, 9120002, 9461232, 9950302		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10352194, 10364706, 10383081, 10608470, 11096141, 11717948, 11776100, 12449516, 12728975, 15364166, 16290123, 16492203, 18413162, 18849600, 19243623, 19327134, 20580725, 21421655, 21500980, 22739771, 23300827, 23497386, 25430897, 26682227, 26782563, 26973293, 27483138, 28296280, 28300676, 28337024, 28378551, 28446809, 28488548, 28596160, 28797632, 28923834, 28938442, 29038209, 29378484, 29514038, 29642146, 29773093, 30048164, 30197501, 30664212, 30793466, 30903169, 30921791, 30992195, 31027433, 31089754, 31501493, 31761419, 8596493, 8918618, 9218178, 9258285, 9535411		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12716844		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	LHGDN	16520412		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	21704391, 29290979, 29353218		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	CTD_human_DG	29353218		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	11961304, 17487826, 17653210, 19034303, 19864304, 20606419, 21421655, 21500980, 24284398, 24737640, 26412030, 28488548, 32370637, 33668947	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	12969130, 20712135	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10352194, 10364706, 10499884, 10907125, 11181802, 11717948, 11776100, 12081578, 12270765, 12663475, 12682618, 12716812, 12728975, 14569094, 15031673, 15606719, 16728425, 17143591, 17487826, 17653210, 18413162, 18849600, 19034303, 19783860, 21406182, 21421655, 21500980, 21607620, 22026967, 22113528, 22318421, 22791320, 23081748, 24284398, 24910532, 25003613, 25148511, 25791940, 26619914, 27358275, 28177279, 28468961, 28488548, 29053707, 29185789, 29514038, 29775675, 29884907, 30185469, 30190172, 30275283, 30287151, 30466736, 30798724, 30961500, 30970225, 31115705, 8593944, 8596493, 8772723, 8877296, 8918618, 8989734, 9049480, 9258285, 9461232, 9535411, 9648845		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	17890855, 20383342		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	10862638, 28189547, 28363842, 28403787, 29378484, 29484134, 29488353		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	LHGDN	12716844		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	CTD_human_DG	15387897		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	8814748	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	17487825, 23199721	Stimulate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	CTD_human_DG	17502491		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	22912384, 23685554, 27329825, 28167124, 29197606, 29589594, 30948641		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	30088535		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	21657802, 27819152, 31641998		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	32356512, 40717713	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	26782563, 30071860		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	12417054, 12859402, 16059745, 17563539, 18645251, 18698203, 19308748, 21234519, 21436209, 22881375, 9378138		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30028905		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15741767, 25231075, 27349856, 30105775		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	15741767	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19524223, 31759042		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29303211	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	25638412		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	18363708		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	16771832		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30845964		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	30484894		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10024331, 10082497, 10373210, 10404948, 10459872, 10585308, 11037339, 11181811, 11191642, 11230286, 11325075, 11336183, 11345362, 11593574, 11731937, 11863259, 11997278, 12032593, 12037699, 12118911, 12145290, 12164881, 12169209, 12417054, 12611423, 12661912, 14597849, 14688807, 15042429, 15201544, 15201545, 15386947, 15624175, 15630592, 15640279, 15811183, 15854165, 16210856, 16222898, 16303336, 16714246, 16940224, 17083073, 17161775, 17190732, 17242300, 17475670, 17823594, 17952138, 18227406, 18250562, 18475146, 18830250, 19243623, 19365726, 19536167, 19770777, 20060896, 20087216, 20216084, 20223791, 20662730, 21234654, 21312059, 21779803, 22148914, 22156763, 22371359, 22407378, 22570327, 22710764, 22799745, 22974788, 23716723, 24131669, 24192120, 24452034, 24490766, 24860821, 25143324, 26125750, 26305278, 26335431, 26391364, 26502817, 26505451, 26607294, 27054529, 27214656, 2737726, 27398822, 28251313, 28440441, 28598381, 28807582, 28862020, 28865157, 30066953, 30307755, 30542083, 31102703, 3351294, 7567973, 7635961, 7649545, 7700003, 7708716, 7744780, 7798251, 7850980, 7852920, 7932516, 7987036, 7988084, 7990085, 8132767, 8177268, 8267622, 8513325, 8593944, 8621207, 8728297, 8772723, 8847959, 8856207, 8952609, 8957547, 9120024, 9126885, 9170000, 9170002, 9199566, 9218179, 9314411, 9314412, 9403548, 9403549, 9421481, 9495253, 9524045, 9607178, 9607382, 9663923, 9740601, 9831339, 9886871		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	10652033, 11325075, 11345362, 12145290, 12169209, 12417054, 12611423, 12661912, 15077204, 15811183, 17190732, 17448297, 17475670, 17546276, 17952138, 18404605, 18855268, 19243623, 19770777, 20216084, 20662730, 21629041, 22148914, 22371359, 22570327, 22799745, 22974788, 23943853, 24015270, 24452034, 24490766, 24860821, 25143324, 25366732, 2554039, 26283679, 26305278, 26391364, 27398822, 30542083, 31337952, 32338289, 32555714, 34758666, 39512695, 7635961, 7649545, 7744780, 8132767, 8177268, 9120024, 9199566, 9421481, 9607178	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	GENOMICS_ENGLAND_DG	24452034		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	33275245	Stimulate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	9199566	Associate	★☆☆☆☆ Found in Text Mining only
External Carotid Artery Diseases	Carotid artery disease	CTD_human_DG	12911327		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	24020479		★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	30982037		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	30666827		★☆☆☆☆ Found in Text Mining only
Familial sick sinus syndrome	Sick Sinus Syndrome	BEFREE	22242192		★☆☆☆☆ Found in Text Mining only
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	BEFREE	28143738		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31604805		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29515450, 30919112		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	14642613, 19628656, 20372825, 26385087, 27502441, 28798388, 31348596		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	15613622		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	11045652, 14610337, 21839714, 9853248		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	LHGDN	14610337		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	19858406		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	9853248		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25663464		★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	17389608		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	17389608		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	16771832		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	17044667, 28840514		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	15914614		★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	15914614		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	14997208, 18676759		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32133779	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	14997208, 18676759		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	10432384, 11422735, 16687628, 17519558, 29733413		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	10432384, 11422735	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	CTD_human_DG	11459117		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	18421480	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	12164881, 12911556, 15458433, 21670416, 25523477, 38154557	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	18421480, 20615910	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	12969126, 30414341	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	10922970, 16828231, 17494887, 17665974, 18408475, 19034303, 28130181, 28202497, 28419296, 30005635, 9582107, 9607405, 9886895		★☆☆☆☆ Found in Text Mining only
Glucocorticoid-remediable aldosteronism	Hyperaldosteronism	BEFREE	7567973, 8127035, 8297539		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	20615910, 31880583	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	21936613		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	38130930	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28653423		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	12431442		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	14643574, 20157054, 28096047, 28941256, 30703374, 9794357		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	19373235		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20549134	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26452457, 27696667, 32655579	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10097225, 1414889, 14769437, 15284191, 15569271, 17145981, 17430683, 18279468, 18594050, 18612202, 18641516, 20549134, 20945963, 21147120, 22939879, 23154270, 23337087, 24145329, 24572548, 24789662, 25036270, 25869724, 26864319, 26874752, 27579618, 27912890, 28139517, 28233239, 28244243, 28283551, 28295363, 28337024, 28371822, 28428194, 28440487, 28475616, 28484118, 28587583, 28652105, 28679681, 28862020, 28873219, 29038209, 29081650, 29154427, 29266804, 29343862, 29369824, 29593122, 29684507, 29744294, 29795262, 29872396, 30103979, 30156128, 30210678, 30256890, 30355236, 30369577, 30387679, 30484834, 30576317, 30670148, 30687708, 30819382, 30835055, 30881303, 30924021, 31087629, 31186538, 31218508, 31265743, 31490340, 31496651, 31498767, 31498903, 31521437, 31564129, 31718444, 31755934, 31785110, 31836539, 8835867, 8872858, 9302352, 9486084		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	12025466, 1330361, 20811386		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	12453539, 15569271, 18279468, 20549134, 20945963, 22939879, 32638886, 33926172, 35886041, 7682566	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35886041	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Failure Systolic	Heart failure	Pubtator	31560448	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	BEFREE	19185300		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	12025466, 1330361, 20811386		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	31307846		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	21436211	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	20870476		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	2224129, 23132846	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	27910864	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	27982687		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	16521052, 23151617, 25350836		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	1707127, 27028410		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	19376777, 20920666, 21618344, 25567748, 26681808, 34059824	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	BEFREE	12417569, 30778062		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	21393362, 27732943		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	2183888, 32235718	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28596754, 29901077		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	19858406		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	11791020, 18848600, 24297486, 25036270, 28289182, 2990765, 30865228		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	2554039	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	33796077	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	15475831, 17852837, 18409009, 23281427, 23321401, 29081697, 29437576, 9822117		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	LHGDN	18409009		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	15662225, 18300856		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	LHGDN	18300856		★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	CTD_human_DG	15815331		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	12107734, 12960000, 27733369, 28283950, 30126320, 30254714, 31682172		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	19225232	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	22912384, 29296021		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	16713443, 30101377, 8740916		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	14502296, 28003648		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	26340459		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	15662225, 18300856		★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	BEFREE	10737993, 11699734, 15021200, 21119625, 22529745, 27915025, 28217701, 29777253, 30905219		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperoxaluria	Hyperoxaluria	Pubtator	18951670, 24934730	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperoxaluria	Hyperoxaluria	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperoxaluria	Hyperoxaluria	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperoxaluria Primary	Hyperoxaluria	Pubtator	15840016, 18782763, 21612638, 25644115, 32221050, 35612621, 35661454, 36151119, 40225159	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	30865228		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	26254182		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	16272779	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	10412879, 10487325, 10586529, 11153734, 11325075, 11409653, 11675943, 12145290, 12164881, 12169209, 12661912, 12675870, 12911556, 12938141, 12939534, 12950120, 15049387, 15077204, 15492926, 15569271, 15811183, 16369102, 16532385, 16556868, 16876684, 17334527, 18248681, 18403595, 18404605, 18562701, 18647135, 18698212, 18758497, 18923060, 19220742, 19421330, 19770777, 20047954, 20216084, 20223792, 20549134, 20592457, 20717043, 20927107, 21248783, 21594893, 21628354, 21629041, 21670416, 21845073, 22012329, 22148914, 22419662, 22791701, 23036011, 23497386, 23529640, 23648704, 23907112, 23943853, 24015270, 24452034, 24722130, 24860821, 25143324, 25262176, 25961019, 28105631, 28467442, 29040610, 30875817, 31345003, 31373631, 31524252, 31781716, 32475043, 32871819, 33668947, 33792450, 33885378, 33973418, 34758666, 35548940, 37154169, 37445727, 37693342, 38573093, 40352208, 40717713, 7518396, 7635961, 7744780, 7883995, 8621667, 9034402, 9199566, 9728481	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	11964369	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26092580, 26945075, 31237175	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26352407	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	12933702, 15326089		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10024331, 10100088, 10332930, 10342781, 10404948, 10405780, 10446934, 10453099, 10459872, 10482871, 10487325, 10489389, 10509542, 10523360, 10528248, 10585308, 10586529, 10608470, 10720583, 10775574, 10829100, 10856280, 10862638, 10865821, 10880382, 10948091, 10981040, 10981059, 10994750, 11012877, 11015555, 11128865, 11134677, 11191642, 11230286, 11330874, 11378837, 11409653, 11411763, 11422818, 11434422, 11435347, 11463720, 11463770, 11544438, 11566928, 11675943, 11687736, 11727501, 11751698, 11773594, 11791034, 11803527, 11926202, 11964369, 11966404, 12040348, 12051013, 12081721, 12113411, 12145290, 12169209, 12195118, 12234811, 12234952, 12270765, 12417054, 12444540, 12456049, 12511523, 12511525, 12511529, 12654713, 12661912, 12675870, 12805070, 12855411, 12911327, 12925562, 12933702, 12938141, 12950120, 1350793, 1394429, 14508190, 14530292, 14597849, 14597852, 14610337, 14643574, 14970360, 15017542, 15042429, 15055256, 15075192, 15080371, 15106801, 15106809, 15117826, 15134799, 15194475, 15201545, 15361768, 15386947, 15480097, 15507206, 15569271, 15599691, 15614025, 15624175, 15640279, 15642127, 15753233, 1575943, 15811183, 15827742, 15854165, 15939810, 16052407, 16094317, 16133423, 16172434, 16182110, 16210856, 16230485, 16286570, 16303336, 16352906, 16392768, 16396964, 16556868, 16672145, 16685579, 16755155, 16790149, 16876684, 16971959, 17161775, 17261659, 17339535, 17448297, 17519130, 17641732, 17689084, 17903690, 17909121, 17921333, 17977523, 17998241, 18049108, 18195161, 18227406, 18281370, 18300856, 18408475, 18413162, 18446580, 18475146, 18497458, 18515325, 18562701, 18575631, 18653189, 18698203, 18726831, 18757827, 18758497, 18832165, 18847324, 18957799, 19126660, 1916996, 19341158, 19365726, 19379721, 19584721, 19597039, 19681973, 19696781, 19729965, 19770777, 19822800, 19927151, 19948988, 20040866, 20047954, 20086047, 20088829, 20150548, 20216084, 20223792, 20300047, 20361261, 20429690, 20433684, 20549134, 20577123, 20592457, 20678153, 20717043, 20724906, 20836698, 20945963, 20978123, 21030904, 21106959, 21147255, 21157371, 21292406, 21312059, 21444836, 21490026, 21518968, 21544083, 21558448, 21628354, 21629041, 21640098, 21657802, 21881578, 21952934, 22068875, 22107792, 22148914, 22216295, 22443458, 22456346, 22526255, 22720713, 22791701, 22918624, 23006735, 23036011, 23109673, 23110194, 23122314, 23152498, 23281427, 23324949, 23467347, 23497386, 23584256, 23598646, 23648704, 23712358, 23716723, 23892268, 23894329, 23894370, 23907112, 24014829, 24015270, 24053613, 24335996, 24356540, 24452034, 24622918, 24790136, 24798563, 24877626, 24978482, 25031294, 25035152, 25093805, 25421983, 25474089, 25534858, 25568318, 25673364, 25723521, 25809578, 25945342, 25961019, 25990648, 26502817, 26607294, 26661173, 26663185, 26787451, 26818744, 26873938, 26873967, 26887819, 26944358, 26975704, 27078860, 27098341, 27122543, 27214656, 27245461, 27298316, 27480094, 27535556, 27596834, 27613724, 27620875, 27653031, 27660286, 27663860, 27812915, 27819152, 27871858, 27874975, 27882355, 27889641, 27895190, 27906749, 27910955, 27988209, 27993561, 28011746, 28034583, 28052870, 28062568, 28063062, 28066146, 28082452, 28105631, 28129470, 28138709, 28148841, 28189816, 28190037, 28213404, 28223469, 28266578, 28276483, 28277742, 28287886, 28295976, 28298457, 28320851, 28321001, 28330785, 28330983, 28336948, 28337024, 28371822, 28384411, 28387384, 28400080, 28404593, 28405625, 28411317, 28416584, 28428194, 28430615, 28436023, 28438904, 28444983, 28446517, 28446809, 28447738, 28461606, 28467442, 28490219, 28493376, 28498854, 28509722, 28509726, 28528561, 28537660, 28552746, 28560786, 28567090, 28572913, 28588076, 28607130, 28625505, 28637815, 28646220, 28648738, 28652105, 28659344, 28659507, 28664509, 28672944, 28679951, 28684630, 28692311, 28711865, 28716988, 28716990, 28720877, 28733135, 28760945, 28802945, 28840514, 28842434, 28847894, 28849629, 28877076, 28877878, 28878301, 28939023, 28947615, 28974499, 28974571, 28985347, 28993503, 29036612, 29042424, 29046315, 29054855, 29061720, 29069584, 29081697, 29098905, 29107003, 29115432, 29118017, 29120957, 29126194, 29130930, 29133788, 29145252, 29192185, 29196088, 29212850, 29222949, 29228345, 29232407, 29244531, 29248973, 29258218, 29268201, 29277328, 29297736, 29310811, 29329002, 29331388, 29331564, 29342227, 29364261, 29373045, 29378857, 29382024, 29408668, 29416330, 29420088, 29425281, 29432515, 29437833, 29452567, 29459637, 29490666, 29500668, 29501845, 29514257, 29545582, 29556794, 29566148, 29570510, 29590257, 29609002, 29668324, 29686000, 29691064, 29706566, 29714061, 29729633, 29731021, 29800237, 29860395, 29863758, 29867592, 29874111, 29884291, 29884907, 29884931, 29897266, 29908131, 29923768, 29938618, 29944948, 29959137, 29967665, 29986878, 29995907, 30027478, 30036880, 30078019, 30080282, 30102356, 30118322, 30118343, 30120397, 30137655, 30192915, 30197501, 30207169, 30208601, 30212210, 30217371, 30229842, 30256890, 30264913, 30273558, 30291325, 30291560, 30332317, 30334256, 30355236, 30358805, 30359991, 30371217, 30386989, 30397212, 30402961, 30414380, 30423454, 30442942, 30444137, 30478747, 30524295, 30531843, 30546906, 30551445, 30567227, 30572753, 30572760, 30576317, 30580687, 30582370, 30608177, 30612527, 3065505, 30658013, 30658099, 30664704, 30695999, 30707954, 30710617, 30712424, 30734469, 30761305, 30764697, 30776409, 30784931, 30793936, 30798697, 30804791, 30827511, 30830950, 30839510, 30842613, 30849009, 30875817, 30881303, 30894041, 30894678, 30907023, 30917708, 30921791, 30924217, 30929512, 30943815, 30958350, 30964905, 30977419, 30978131, 30991833, 30998981, 31037948, 31042060, 31051181, 31063551, 31069778, 31098697, 31099612, 31104564, 31125601, 31150271, 31162138, 31167823, 31175066, 31183001, 31183668, 31189433, 31191333, 31201268, 31214554, 31217886, 31235844, 31241170, 31265839, 31273339, 31286941, 31302653, 31307846, 31340575, 31343412, 31356784, 31373631, 31379247, 31425690, 31429865, 31430751, 31468385, 31487266, 31498767, 31513814, 31527830, 31599538, 31602467, 31655853, 31668507, 31672933, 31673025, 31677381, 31682172, 31726177, 31727850, 31746626, 31752639, 31755934, 31761419, 31786987, 31787052, 31790054, 31836539, 6397530, 7478115, 7549432, 7567973, 7584914, 7594434, 7600049, 7622852, 7635961, 7700002, 7700003, 7764464, 7783537, 7798251, 7820539, 7852920, 7883995, 7946168, 7960018, 7987036, 7988084, 8096533, 8127035, 8205458, 8206611, 8297539, 8523390, 8583476, 8593944, 8621207, 8621667, 8723984, 8728297, 8740916, 8772723, 8847959, 8856207, 8869131, 8869132, 8901843, 8918618, 8952598, 8952609, 8986904, 8989734, 9034402, 9040449, 9049480, 9095087, 9140797, 9146984, 9149668, 9149669, 9170002, 9170394, 9194517, 9199566, 9218178, 9257079, 9296068, 9314411, 9330590, 9403549, 9421481, 9433518, 9533415, 9544872, 9554807, 9607382, 9607391, 9609996, 9665229, 9694433, 9740601, 9794717, 9797175, 9814618, 9815152, 9831339, 9848775, 9931135		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	10400907, 10526905, 11459117, 11501062, 12084390, 12121858, 12414515, 12600921, 12676074, 1394429, 1432030, 14751847, 15243307, 15302986, 15699457, 15833808, 15851630, 16618834, 16788141, 16868307, 17272743, 17537837, 17989111, 18420994, 1849535, 1860718, 18679781, 1875449, 18768397, 18785976, 18847324, 19109942, 19133994, 19373235, 19770776, 19858406, 20231528, 20429690, 20713914, 20811386, 20837116, 20937366, 21289285, 21393355, 21420289, 21501650, 22214961, 22452651, 22753205, 22982863, 24342267, 24347665, 24935938, 24965170, 25139994, 25259750, 25398788, 25874449, 26564064, 26781276, 27225954, 27678262, 27798352, 27889505, 2831029, 2835134, 31016362, 31098697, 3158602, 43064, 6742791, 7323490, 8021468, 8109997, 8505092, 9024144, 9260993		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	12145290, 12173461, 12450315, 12476421, 12511523, 12536339, 12559679, 12597535, 12669427, 12670743, 14597849, 14610337, 14767903, 14970360, 15642127, 15914769, 16210856, 16940224, 17190732, 17416596, 17448297, 17569300, 17823594, 17952138, 17998241, 18250562, 18446580, 18475146, 18698203, 18758497		★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	BEFREE	20606419, 23584256, 23803592, 28244896, 28808068, 28928136, 30304543, 31086184		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	31396276, 31579950		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11171784, 11751703, 15640279, 20560006, 21163864, 24204726, 28120210, 29358191, 30714521, 9023164, 9444881, 9822439		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11171784, 11751703, 15640279, 21163864, 24204726, 29358191, 30714521, 9023164		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	15049387, 19074594, 24823657, 36952519	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	32533462, 34854353, 35334035, 35703318, 35756425, 36517015, 38296564, 7929089	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	10440164, 12675870, 15049387, 9822439	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	23529640	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	15941661		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	11278795		★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	18773126	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	31396276, 31579950		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	32293282	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25573199	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29215599, 30560688	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	30915766		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	30541470, 30760236		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	12692750, 29903860, 30466619, 31204528, 31509349		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	16844946, 18508830, 23715995		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	16844946		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	16844946, 18508830, 23715995	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	12692750		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	11053482, 11354780, 12164881, 12911556, 14638911, 14648325, 15031629, 15153745, 15202611, 15458433, 15504143, 18421480, 19443277, 19729965, 21150220, 21163122, 21974877, 24157068, 24344785, 26588355, 31606236, 7485124, 9259580		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	12911556, 14648325, 18421480		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	CTD_human_DG	9259580		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	32655579	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31319451		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27916702, 30120397, 30301188, 30958350		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	12777626		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	20870476, 28376078		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	25228068		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17047091, 19686419, 20717043, 24378596, 28160390, 30725290		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	20717043, 35232999	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	20830311		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	18052686, 21306748, 23036011, 24722130	Associate	★☆☆☆☆ Found in Text Mining only
Insulin-Like Growth Factor I Deficiency	Insulin-Like Growth Factor I Deficiency	BEFREE	28295976		★☆☆☆☆ Found in Text Mining only
Internal Carotid Artery Diseases	Carotid artery disease	CTD_human_DG	12911327		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36123994	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	29359522		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	21106959, 24799613, 25596186		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	31511561		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	33969695	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	29570216		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	17689084, 18551012, 19473121, 19759335, 22800767, 23790236, 24020479, 25944852, 28566152, 28760411, 29500223, 30219484, 30409744, 30521887		★☆☆☆☆ Found in Text Mining only
Isovaleryl-CoA dehydrogenase deficiency	Isovaleryl-CoA dehydrogenase deficiency	BEFREE	20413984		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	16771832		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	11699734, 27568336, 27644547, 27915025, 28217701		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10081615, 10100088, 10383081, 10499884, 11096141, 11200871, 11245776, 12164881, 12728975, 12950120, 14610337, 15983321, 16336578, 17143591, 17890857, 18206321, 18413162, 18413189, 19108684, 20478903, 20853144, 21150220, 21421655, 21500980, 22739771, 22792351, 22822941, 23397215, 24154707, 24241364, 24737640, 27380400, 28589652, 28618426, 28619367, 28816537, 28862933, 28923834, 28993503, 30005635, 30412432, 30576317, 30793466, 30958891, 30978131, 30992195, 31264479, 31425690, 31649546, 7485124, 8593944, 8596493, 8621207, 8772723, 9049480, 9120002, 9257079, 9259580, 9428470, 9535411, 9853248, 9858117, 9886895		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	11961304, 12164881, 12950120, 16598193, 18206321, 19225232, 19327134, 20615910, 20702504, 21421655, 21612638, 21670416, 22529745, 24241364, 24284398, 24737640, 25271252, 26092580, 27151922, 28807596, 31237175, 31611175, 33785019, 34448643, 35830169	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	12414515, 15213268, 17989111, 21896938, 31098697		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18421480, 26943326	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	11773594, 12832734, 12950120, 16312263, 18397721, 19641301, 20977670, 21119625, 25534858, 27568336		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	CTD_human_DG	9259580		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	10916074, 11422735, 11918733, 12675870, 12950120, 15253729, 16105049, 24977181, 24988064, 32569165, 33668947, 37874369, 9259580	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26412030	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	11793101, 27982687, 28406186, 28569136, 29077618, 29225804, 29509568, 29665445, 30224346, 30633770, 30929579, 31361800		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10737993, 10916074, 11422735, 11544438, 11918733, 12187084, 12675870, 12728975, 12950120, 15045574, 16006956, 16105049, 16525944, 16830877, 19288324, 21163122, 21937979, 22069557, 23065231, 23166630, 25027322, 25660845, 25772015, 28676854, 30169827, 30343892, 30676254, 9259580, 9291178, 9428470		★☆☆☆☆ Found in Text Mining only
LAURIN-SANDROW SYNDROME	Laurin-Sandrow syndrome	BEFREE	28862573		★☆☆☆☆ Found in Text Mining only
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	BEFREE	18397721		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	10440164, 10646957, 10880382, 11275936, 11688760, 11737220, 11751703, 11910301, 12022239, 12640257, 12675870, 1380616, 14620933, 16280278, 17145981, 19094982, 19471099, 27722772, 29196088, 29796842, 30267750, 31016362, 31051181, 31186521, 31217886, 7820539, 8582095, 8583476, 8800593, 9433518, 9444881, 9822439		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	10805403, 14644620, 14751847, 18679781, 20837116, 24688123, 31016362		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	16280278		★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	18702968, 20549134, 25036270		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	12025466, 1330361, 20811386		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10595741	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	1515646, 1985699, 2046206, 2328318, 265177, 3465378, 6451143, 6574794, 6972238, 8204887	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	1683797	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	3478105	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	1054612, 1067875, 1985690, 2581635, 265737, 2678002, 2930840, 3478106	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	7049266	Stimulate	★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle Syndrome	BEFREE	7567973		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	18630525		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10738214, 10856831, 15095302, 16007211, 16650523, 17004092, 19318581, 20538734, 23649769, 24391821, 26225830, 2824952, 29163965, 29631561, 29710494, 29883780, 30712649, 31367864, 31771612, 8191284, 8895534, 9266849, 9931090		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	15613622		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15743363, 15941661, 16911698, 30179652, 30231858		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	16911698, 18797412		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28798388	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	33223956	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	10960483	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	17004092, 26225830, 2824952, 9266849, 9931090		★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	BEFREE	24355923		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	18364271	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29559844, 29709898		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16612594	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12215901, 15789057, 27956582, 28530466, 29457309, 30094750		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	15789057, 16047641, 31264479		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	16474096		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18059164	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	11027844		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	11027844		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	11027844		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	11027844		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	11027844		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	11027844		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	11027844		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	31230885		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	28871813, 29457309		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28653423		★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	BEFREE	10855732, 17921816, 20724906, 24368192, 28071761, 9504863, 9797175		★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	LHGDN	17921816		★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	CTD_human_DG	2493837, 27428043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12010639, 12566298, 15498791, 15802301, 16823505, 16954438, 18395779, 19286759, 21109584, 21638051, 22426690, 22536420, 23092556, 25682288, 28205588, 28807926, 29259013, 30408714, 31142626, 31642813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	25231075, 27349856, 30105775		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	25663464		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	31062847		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11522624, 14973087, 26376373		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	18630525		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15375532, 21602736, 28429090		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16369744, 17440964, 18181094, 18184167, 18288685, 19996275, 28529582, 29568400		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	2064725		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17389608, 18059164, 21584499, 22114933, 31062847		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19190164, 20978160, 24390231		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15375532, 16385589, 18181094, 18630525, 20438364, 20458733, 22188725, 22536420, 23333075, 23846033, 25223295, 28601126, 29259013, 29413755, 29534876, 29552215, 29807023, 30105775, 30215702, 30509084, 30528285, 30845964, 31642813, 9893668		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29034589		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	23036011	Associate	★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	28646220, 28779634		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22536420		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	19635970, 28347539, 29371244, 29433732, 31272746		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	31936351	Associate	★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	BEFREE	10482871, 10586529, 10694185, 12536339, 14638622, 14719182, 15042429, 16052401, 16369102		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19771429, 28905299, 29558744, 29674000, 30478450		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	24157068, 30414341		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15949885, 17499413, 18628677		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	15949885, 17499413, 18628677, 24016839, 25131447		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28641333, 28758591		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24834011, 24991574, 28712073, 29257219, 29800106, 30787879		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25567748, 32356512	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	11213892, 15869758, 17339535, 21330420, 22209668, 24385301, 24819472, 28096436, 29081698, 29695972, 30172001, 31420755		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	15644278, 19178574, 25819272		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	19178574		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	1703535	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26943326	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitral valve dysplasia	Mitral Valve Dysplasia	BEFREE	25814644		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	17379330, 18794618, 22965982		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	18363708		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	26516175		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	29937423, 35421271	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	28262744, 30719178	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	30719178		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	2183888	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17715340, 20541774, 21320707, 27000216, 31828731		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18562510		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28127518	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	31404091		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	24551095		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	31404091		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	3478106	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	1054612, 278632	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	12145768		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	12025466, 1330361, 20811386		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10097233, 10488956, 10488958, 10615414, 11106322, 11137090, 11330506, 11352695, 11393670, 11531970, 11904535, 12102452, 12444540, 12453540, 14502296, 14643574, 15599691, 15662226, 16940224, 17299437, 17336987, 17579251, 20529973, 20945963, 21163865, 22081025, 23283822, 23283824, 23666149, 23933419, 25966146, 26588586, 26874752, 27586550, 28222221, 28266578, 28501115, 28982370, 29040151, 29486470, 29556794, 29795262, 29943849, 30050588, 30068867, 30130974, 30146700, 30210678, 31077347, 31127792, 31147455, 31371116, 7549432, 7622852, 7700002, 7737732, 7764464, 8583476, 8793580, 8869131, 9034401, 9254851, 9831339, 9857918		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	16413583, 1668233		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17299437		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	20663844, 23283822, 23497386, 24806378, 27329205, 31147455, 9034401	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	11352695, 12743009, 12805070, 14500990, 15496309, 15763077, 16019571, 19779330, 20537563, 20945963, 22986786, 23572029, 28382073, 28889965, 9443775		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	LHGDN	12130713		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16775501		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	19706169, 20945963, 40717713	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	30563389		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19687742, 28205588		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11844605, 12390341, 14760087, 16434990, 16600689, 16650523, 19318581, 21813469, 23333075, 25663464, 25682288, 28205588, 29115494, 29763886, 30208943, 30914029, 31053748, 31642813, 31660067, 31771612, 7883831, 7926462, 7980610, 8033127, 8895534, 9850030		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	26098644		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	10916074, 12969126	Associate	★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	10916074		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	10916074		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	27915025		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Nephrocalcinosis	CLINVAR_DG	28893421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	BEFREE	11699734, 27568336, 27644547, 27915025, 28217701		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG	28893421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	24257694		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	BEFREE	8989734		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	CTD_human_DG	2046802		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	20478903, 23681285	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	14610337		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	15031629, 16525944		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	33785019	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nervous System Diseases	Nervous system disease	Pubtator	20308030	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30293142		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22253825	Inhibit	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	8584237		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25645462	Associate	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	20541774		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	17890855, 20383342		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	BEFREE	26973293		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Essential hypertension	Essential Hypertension	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	14642613, 18445359, 31827504		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21769437		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	11819093		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	30256681		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10642320, 10933310, 12030600, 12597535, 12915696, 15912101, 16713443, 17624939, 20045538, 20057360, 21657802, 21779803, 23497386, 28337615, 28467442, 28783954, 30404738, 31015582, 31084908, 31186446, 31197649, 31638856, 8728297, 9140797, 9654602		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	10933310	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	15044674, 15231849, 20216084, 22648117, 22880127, 23497386, 32356512, 34292876, 39464190	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1A	Oculocutaneous albinism	BEFREE	27788506		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	30125396		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27866912	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	34073132	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	30043596		★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	10975922	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	23975234, 28181652, 30066953		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	18256306, 18847324, 23975234, 27389089		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	21845073	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	22785482		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	BEFREE	22785482		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29115494		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	18491423		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	23615648		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16434990, 38527595	Associate	★☆☆☆☆ Found in Text Mining only
Oxalosis	Hyperoxaluria	BEFREE	30852714		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15375532, 21602736, 28429090		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11334891	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	24743610	Associate	★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	BEFREE	15158002		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	15108186		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	17900533, 25645462	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27613758, 29665408, 30315936		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	27733466		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	27759448	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	18026817, 19816747, 20118823, 30219798		★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	21936613		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	30238580		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	17389608		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	19236532, 30066953		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	22092770	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	19782519	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	19782519		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	14632699, 19782519		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	28601126		★☆☆☆☆ Found in Text Mining only
Peroxisomal Disorders	Peroxisomal disorder	Pubtator	24990153	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	1381371, 7989494		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	12586176, 30523033		★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	BEFREE	24068433		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	12950120, 26092580	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	30909873		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	11142763, 12950120, 16234607, 26482465, 28332417, 28747358, 9291178		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	16275260, 19524223, 23564192		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	16275260		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34480296	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	9410909	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	16372584		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	12449516		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	15743363, 29470765		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29081697		★☆☆☆☆ Found in Text Mining only
Primary Hyperoxaluria	Hyperoxaluria	CLINVAR_DG	10960483, 12777626, 15327387, 15365967, 15802217, 1703535, 17460142, 20713123, 22529745, 22844106, 24934730, 24988064, 24990153, 25644115, 26252291, 28202121, 28619084		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Hyperoxaluria	Hyperoxaluria	BEFREE	11562405, 15849465, 16912707, 17110443, 17460142, 1961759, 20797690, 21612638, 24957194, 26946417, 27568336, 30169827, 31585197		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Hyperoxaluria	Hyperoxaluria	LHGDN	15365967, 16912707, 17460142		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Hyperoxaluria	Hyperoxaluria	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	10960483, 2925788	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	15253729, 15840016, 15849465, 16957746, 1703535, 17696873, 18782763, 18951670, 20056599, 20133649, 20150937, 20208150, 20564000, 22529745, 22923379, 23589421, 2443389, 24934730, 24988064, 24990153, 25427081, 27644547, 28161266, 28619084, 28906061, 28969594, 30541997, 31151050, 31715429, 32569165, 33721035, 34082749, 35306035, 35830169, 36557898, 37874369, 38243391, 8101040, 8245128, 9192270	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type 1	Hyperoxaluria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria, type I	Hyperoxaluria	CLINVAR_DG	10394939, 10453743, 10541294, 10862087, 10960483, 11562405, 11708860, 12559847, 12768081, 12777626, 12899834, 1301173, 1349575, 15110324, 15253729, 15327387, 15356974, 15365967, 15464418, 15802217, 15849466, 15961945, 15961946, 15963748, 16208537, 16850020, 16912707, 16971151, 1703535, 17460142, 17495019, 17696873, 18282470, 18448374, 18782763, 1879825, 18810341, 19479957, 20016466, 20133649, 2039493, 20544097, 20573805, 21488232, 21705122, 22018727, 22685354, 22844106, 22923379, 23229545, 23430879, 23439734, 23551880, 23589421, 23810941, 23861508, 24012869, 24055001, 24385516, 24718375, 24934730, 24988064, 25363903, 25629080, 25644115, 27659337, 27915025, 27935012, 8101040, 9002528, 9192270, 9578076, 9604803		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary hyperoxaluria, type I	Hyperoxaluria	UNIPROT_DG	10394939, 10453743, 10541294, 10862087, 10960483, 12559847, 12777626, 1301173, 1349575, 15253729, 15849466, 15961946, 15963748, 16971151, 1703535, 17495019, 2039493, 23229545, 24055001, 24934730, 26149463, 8101040, 9192270, 9604803		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary hyperoxaluria, type I	Hyperoxaluria	BEFREE	10453743, 11699734, 11708860, 12432429, 12559847, 12768081, 12777626, 1349575, 15110324, 15253729, 15327387, 15365967, 15464418, 16931222, 16957746, 1703535, 17460142, 17495019, 18282470, 19479957, 20016466, 20133649, 20150937, 2039493, 20549407, 20977670, 21119625, 22018727, 22201765, 22529745, 22821680, 23229545, 23956997, 24012869, 24205397, 24934730, 24988064, 25620715, 26161999, 26383609, 26689264, 27432743, 27915025, 27935012, 28217701, 28619084, 28969594, 29110180, 29244539, 30215702, 30341509, 30539697, 30541997, 30635080, 30676254, 30787879, 31402115, 31715429, 7559790, 8592623, 9002528, 9365788, 9578076, 9604804		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary hyperoxaluria, type I	Hyperoxaluria	GENOMICS_ENGLAND_DG	19479957, 25363903, 4701948, 8101040		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary hyperoxaluria, type I	Hyperoxaluria	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary hyperoxaluria, type I	Hyperoxaluria	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	12586176		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16369744, 17440964, 18181094, 18184167, 18288685, 19996275, 28529582, 29568400		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18314486	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	12969130, 17622313, 9259580	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	16133423		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	11194890, 29772435		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	33416099	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30466619, 31204528		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	36289015, 38573093	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	21393362, 22156739	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28207279		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	17630322, 21487074, 23715995, 29084974, 29486589		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	28960804, 31181250		★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	BEFREE	10567188		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20047954, 24978482, 7490136		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	10432384, 18509316, 19535569, 20385187, 21228800, 22068875, 25148511, 25945342, 28064215, 28433566, 28465484, 28808068, 29179208, 29277328, 30929858, 30958891, 30996242, 31356816, 31385893, 31811859		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	21493813, 21839714, 28202497, 28807596, 9120002		★☆☆☆☆ Found in Text Mining only
Renal hypertension	Renal Hypertension	BEFREE	28778706, 29329358		★☆☆☆☆ Found in Text Mining only
Renal hypertension	Renal Hypertension	CTD_human_DG	8763405		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	12832734, 14648325, 16396964, 16525944, 19327134, 24284398, 28416584, 30524295, 31086184, 31430751, 31505499, 31641998		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	CTD_human_DG	9259580		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular dysgenesis of genetic origin	Renal Tubular Dysgenesis Of Genetic Origin	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal Tubular Dysgenesis With Choanal Atresia And Athelia	Renal Tubular Dysgenesis With Choanal Atresia And Athelia	ORPHANET_DG	16116425, 22095942		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	17107992, 22005825, 24127120, 29206762, 30784605		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	26172140		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	10499884, 15983321, 29378484, 29499566, 31425690, 31636038, 8587251, 9258285		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	35133402	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30536303		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	30536303	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	CTD_human_DG	15387897		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	26172140, 28337307		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29122658		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	25594855	Associate	★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	BEFREE	31307846		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	10351920		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	22781098	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	10207944, 9713444		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	18363708, 28605058	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29032706, 30045724		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	26261061		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	29760662		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	28882562		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29077618		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	19453650		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	22242192	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	29511803		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome 1 Autosomal Recessive	Sick sinus syndrome	Pubtator	22242192	Associate	★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	16771832		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	38128705	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	16085213	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	16085213		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	16085213	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	LHGDN	12670743		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30176965, 31836883		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	29269260		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15048132, 2064725		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18630525, 29240723, 33513805	Associate	★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	21657802, 22475523		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	17032401, 17295176, 18445359, 31604805		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17389608, 18059164, 21584499, 22114933, 31062847		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17389608		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18059164, 22563200, 33495829	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	30125396		★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	20870476, 28376078		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	11754397, 18363708	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	25596186, 31749137		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	14730619, 16614523, 30546906, 30954335, 31746507		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	LHGDN	17416596		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	31637747		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	29222139		★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	20717043	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	20592457, 20717043	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	32758871, 36845669	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	16771832		★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	29545754		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	6594170	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31258663		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	28186543		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	Pubtator	28186543	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19190164, 34898568, 37455529	Associate	★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	21119625, 31402115		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	Pubtator	24934730	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	30633850		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23231583	Inhibit	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	22796540	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	10880382, 17065400, 17586781, 21118843, 24614861, 28105751, 28344559, 30850299, 30879014, 31425690		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	14644777, 15005273, 16520412, 19462315, 23943853, 26101159, 26452457, 37154169	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	24486907	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	31373631	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	33647858	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	16272779	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	32027625	Stimulate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	26098644		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	10615414, 18414380, 28941256, 30075281, 30586752		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	10440164, 20549134	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	21248783	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	19471099		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	23283822	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	10233502, 15045574		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	10233502, 12478352, 15045574, 19288324		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	16771832		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	30413751		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	16532385	Associate	★☆☆☆☆ Found in Text Mining only
XX males	XX Males	BEFREE	29097367		★☆☆☆☆ Found in Text Mining only