SERPINA1 (serpin family A member 1)

Gene

• Entrez ID: 5265
• Gene name: Serpin family A member 1
• Gene symbol: SERPINA1
• Synonyms (NCBI Gene): A1A, A1AT, AAT, PI, PI1, PRO2275, alpha1AT, nNIF
• Chromosome: 14
• Chromosome location: 14q32.13
• Summary: The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17580	T>A	Pathogenic, risk-factor, other	Coding sequence variant, missense variant
rs1802959	C>G,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs11558261	C>T	Pathogenic, other	Coding sequence variant, missense variant
rs28929470	G>A,T	Other, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28929474	C>G,T	Other, pathogenic	Coding sequence variant, missense variant
rs28931568	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs28931569	A>G	Other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28931570	G>A	Pathogenic-likely-pathogenic, other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28931572	A>T	Other, pathogenic	Coding sequence variant, missense variant
rs55819880	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs56388024	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs61761869	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72552401	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs112030253	C>A,T	Conflicting-interpretations-of-pathogenicity, other, uncertain-significance	Missense variant, coding sequence variant
rs112661131	A>G	Likely-pathogenic	Splice donor variant
rs113817720	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121912712	C>T	Benign, conflicting-interpretations-of-pathogenicity, other	Missense variant, coding sequence variant
rs121912713	A>C	Pathogenic	Missense variant, coding sequence variant
rs121912714	T>A	Conflicting-interpretations-of-pathogenicity, other	Missense variant, coding sequence variant
rs138611390	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs139964603	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141620200	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs143920236	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146596574	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147283849	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150784949	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs199422209	G>A,C,T	Other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199422210	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs199422211	T>A	Other, likely-pathogenic	Coding sequence variant, stop gained
rs199422213	G>A	Other, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs267606950	G>-	Other, pathogenic	Coding sequence variant, stop gained
rs370038282	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs550592374	A>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs746155701	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs751235320	C>A	Likely-pathogenic	Splice donor variant
rs753313462	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs756773408	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs762321137	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs763023697	A>-,AA	Pathogenic	Stop gained, frameshift variant, coding sequence variant
rs764220898	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs764325655	G>-,GG	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs766128806	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs773222881	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs775982338	AGA>-	Other, pathogenic	Inframe deletion, coding sequence variant
rs864622043	GCAGCTTC>TGTTTTT	Pathogenic	Coding sequence variant, frameshift variant
rs864622051	G>A,C	Pathogenic-likely-pathogenic, likely-benign	Coding sequence variant, stop gained, missense variant
rs1057516212	AGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057516448	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516555	T>C	Likely-pathogenic	Initiator codon variant, missense variant
rs1057516929	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519610	AG>-	Other, pathogenic	Frameshift variant, coding sequence variant
rs1445192595	C>A,T	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1457464431	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1488213352	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555367891	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555367892	TG>-	Pathogenic	Stop gained, coding sequence variant
rs1555367896	GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCG	Pathogenic	Splice donor variant, splice acceptor variant, stop gained, coding sequence variant, intron variant, inframe indel
rs1555367897	C>A	Likely-pathogenic	Splice acceptor variant
rs1555368557	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555368758	C>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1555368976	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555369128	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1555369172	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555369198	G>T	Pathogenic	Coding sequence variant, missense variant
rs1555369299	T>-	Pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant
rs1566753480	A>G	Pathogenic	Coding sequence variant, missense variant
rs1566756379	AA>T	Pathogenic	Coding sequence variant, frameshift variant
rs1566759056	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016814	hsa-miR-335-5p	Microarray	18185580
MIRT1338589	hsa-miR-3165	CLIP-seq
MIRT1338590	hsa-miR-615-5p	CLIP-seq
MIRT1338591	hsa-miR-661	CLIP-seq
MIRT1338592	hsa-miR-3180-5p	CLIP-seq
MIRT1338593	hsa-miR-4264	CLIP-seq
MIRT1338594	hsa-miR-4704-3p	CLIP-seq
MIRT1338595	hsa-miR-515-3p	CLIP-seq
MIRT1338596	hsa-miR-519e	CLIP-seq
MIRT1338597	hsa-miR-520a-5p	CLIP-seq
MIRT1338598	hsa-miR-525-5p	CLIP-seq
MIRT1338599	hsa-miR-3174	CLIP-seq
MIRT1338600	hsa-miR-3925-5p	CLIP-seq
MIRT1338601	hsa-miR-4276	CLIP-seq
MIRT1338602	hsa-miR-4534	CLIP-seq
MIRT1338603	hsa-miR-4640-5p	CLIP-seq
MIRT1338604	hsa-miR-4697-3p	CLIP-seq
MIRT1338605	hsa-miR-4720-3p	CLIP-seq
MIRT1338606	hsa-miR-4726-5p	CLIP-seq
MIRT1338607	hsa-miR-4728-5p	CLIP-seq
MIRT1338608	hsa-miR-4773	CLIP-seq
MIRT1338609	hsa-miR-4802-5p	CLIP-seq
MIRT2100113	hsa-miR-2861	CLIP-seq
MIRT2100114	hsa-miR-3182	CLIP-seq
MIRT2100115	hsa-miR-370	CLIP-seq
MIRT2100116	hsa-miR-4314	CLIP-seq
MIRT2100117	hsa-miR-4667-5p	CLIP-seq
MIRT2100118	hsa-miR-4700-5p	CLIP-seq
MIRT2100119	hsa-miR-4731-5p	CLIP-seq
MIRT2100120	hsa-miR-637	CLIP-seq
MIRT2620505	hsa-miR-1321	CLIP-seq
MIRT2620506	hsa-miR-134	CLIP-seq
MIRT2620507	hsa-miR-3118	CLIP-seq
MIRT2620508	hsa-miR-3150b-3p	CLIP-seq
MIRT2620509	hsa-miR-3154	CLIP-seq
MIRT2620510	hsa-miR-3162-5p	CLIP-seq
MIRT2620511	hsa-miR-3164	CLIP-seq
MIRT2620512	hsa-miR-4434	CLIP-seq
MIRT2620513	hsa-miR-4501	CLIP-seq
MIRT2620514	hsa-miR-4516	CLIP-seq
MIRT2620515	hsa-miR-4739	CLIP-seq
MIRT2620516	hsa-miR-4756-5p	CLIP-seq
MIRT2620517	hsa-miR-4784	CLIP-seq
MIRT2620518	hsa-miR-765	CLIP-seq
MIRT2620505	hsa-miR-1321	CLIP-seq
MIRT2620506	hsa-miR-134	CLIP-seq
MIRT2620507	hsa-miR-3118	CLIP-seq
MIRT2620508	hsa-miR-3150b-3p	CLIP-seq
MIRT2620509	hsa-miR-3154	CLIP-seq
MIRT2620510	hsa-miR-3162-5p	CLIP-seq
MIRT2620511	hsa-miR-3164	CLIP-seq
MIRT2620512	hsa-miR-4434	CLIP-seq
MIRT2620513	hsa-miR-4501	CLIP-seq
MIRT2620514	hsa-miR-4516	CLIP-seq
MIRT2620515	hsa-miR-4739	CLIP-seq
MIRT2620516	hsa-miR-4756-5p	CLIP-seq
MIRT2620517	hsa-miR-4784	CLIP-seq
MIRT2620518	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	15853774
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	15795238
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	NAS	12878203
GO:0005515	Function	Protein binding	IPI	11057674, 12860985, 12878203, 15271889, 15845869, 16192646, 16321984, 17380188, 20477988, 22115549, 23826168, 31142615, 31358993, 32814053, 33741941
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 23580065
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	6980881, 25645918
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	16192646
GO:0005783	Component	Endoplasmic reticulum	IDA	20477988, 23826168
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	20477988
GO:0006953	Process	Acute-phase response	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0042802	Function	Identical protein binding	IPI	11057674, 18923394, 21909074, 22405009
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 107400
• HGNC: 8941
• e!Ensembl: ENSG00000197249

Protein

• UniProt ID: P01009
• Protein name: Alpha-1-antitrypsin (Alpha-1 protease inhibitor) (Alpha-1-antiproteinase) (Serpin A1) [Cleaved into: Short peptide from AAT (SPAAT)]
• Protein function: Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO syn
• PDB: 1ATU, 1D5S, 1EZX, 1HP7, 1IZ2, 1KCT, 1OO8, 1OPH, 1PSI, 1QLP, 1QMB, 2D26, 2QUG, 3CWL, 3CWM, 3DRM, 3DRU, 3NDD, 3NDF, 3NE4, 3T1P, 4PYW, 5IO1, 5NBU, 5NBV, 6HX4, 6I4V, 6I7U, 6IAY, 6ROD, 7AEL, 7API, 7NPK, 7NPL, 8API, 8P4J, 8P4U, 8PI2, 8QZ5, 8R13, 8R21, 9API
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00079	Serpin	52 → 415	Serpin (serine protease inhibitor)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Expressed in leukocytes and plasma. {ECO:0000269|PubMed:23826168}.
• Sequence:

  MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFS
  LYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGF
  QELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQ
  INDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTV
  KVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFL
  ENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKA
  VLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK

• Sequence length: 418

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Platelet degranulation
COPII-mediated vesicle transport
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo concentration in the ER
Neutrophil degranulation
Post-translational protein phosphorylation

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
Alpha-1-antitrypsin deficiency	Likely pathogenic; Pathogenic	rs199422209, rs2139665561, rs2139691603, rs72555374, rs1200349975, rs28929474, rs11558264, rs764325655, rs764220898, rs751235320, rs199422210, rs775786225, rs2504784138, rs1480528329, rs2504728206, rs2504778008, rs1566753359, rs864622043, rs864622051, rs61761869, rs2504780722, rs2504760831, rs2504778973, rs944607375, rs2504776767, rs2504781328, rs2504726611, rs2504775604, rs2504776911, rs2504775350, rs1897040319, rs775982338, rs28931568, rs17580, rs28931569, rs28931570, rs121912714, rs267606950, rs199422211, rs1057519610, rs121912713, rs11558261, rs28931572, rs55819880, rs1389973852, rs1897046798, rs2504758932, rs1057516212, rs1057516929, rs1057516448, rs112661131, rs762321137, rs370038282, rs1057516555, rs1488213352, rs1555368557, rs1555368758, rs1555367891, rs1555367892, rs1555367896, rs756773408, rs1555369172, rs1457464431, rs1555369299, rs763023697, rs1555367897, rs1445192595, rs138070585, rs1566756379, rs113817720, rs921982028, rs746155701, rs760917668	RCV001377892 RCV001388619 RCV001388184 RCV001956095 RCV001951534 RCV001984018 RCV002310455 RCV000169195 RCV000169405 RCV000169461 RCV000169206 RCV003064236 RCV003090674 RCV002598958 RCV002786692 RCV002810077 RCV002947641 RCV000204775 RCV000204423 RCV000336993 RCV003384315 RCV003472651 RCV003472652 RCV003472653 RCV003472654 RCV003472655 RCV003472656 RCV003472657 RCV003472658 RCV003486404 RCV003829321 RCV000262058 RCV000409001 RCV000201855 RCV000148878 RCV000201848 RCV000148875 RCV000148876 RCV000019579 RCV000169162 RCV000201857 RCV000201860 RCV000512622 RCV000201851 RCV000169508 RCV004573570 RCV004573571 RCV004573572 RCV000408906 RCV000411305 RCV000410206 RCV000411387 RCV000409474 RCV000411794 RCV000411735 RCV000508902 RCV000508966 RCV000508923 RCV000512620 RCV000512630 RCV000512623 RCV000512617 RCV000512625 RCV000512628 RCV000512624 RCV000512614 RCV000668239 RCV000667719 RCV000666593 RCV000671556 RCV000768542 RCV000768537 RCV000779150 RCV000853412 RCV001065386	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholangiocarcinoma	Pathogenic	rs17580	RCV005887574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic obstructive pulmonary disease	Pathogenic	rs17580	RCV000762932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs17580	RCV005887571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic fibrosis	Pathogenic	rs17580	RCV000991136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic	rs17580	RCV005887573	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	Pathogenic	rs121912713	RCV000019591	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs751235320, rs17580	RCV005889647 RCV005887568	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs17580	RCV005887569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 21	Pathogenic	rs121912714	RCV005861023	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs17580	RCV005887570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI I	Likely pathogenic; Pathogenic	rs28931570	RCV000019575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI M(HEERLEN)	Pathogenic	rs199422209	RCV000019565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI M(MALTON)	Pathogenic	rs775982338	RCV000019568	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI M(MINERAL SPRINGS)	Pathogenic	rs28931568	RCV000019566	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI M(PROCIDA)	Likely pathogenic; Pathogenic	rs28931569	RCV000019571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI NULL(BELLINGHAM)	Pathogenic	rs199422211	RCV000019581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI NULL(BOLTON)	Likely pathogenic; Pathogenic	rs764325655	RCV000019589	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI NULL(CARDIFF)	Pathogenic	rs121912714	RCV000019577	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI NULL(DEVON)	Pathogenic	rs11558261	RCV000019597	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI NULL(HONG KONG 1)	Pathogenic	rs1057519610	RCV000019587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI NULL(LUDWIGSHAFEN)	Pathogenic	rs28931572	RCV000019601	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI NULL(NEWPORT)	Pathogenic	rs11558261	RCV000019599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI NULL(WEST)	Likely pathogenic; Pathogenic	rs751235320	RCV000019606	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI P(DUARTE)	Pathogenic	rs121912714	RCV000019605	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI P(LOWELL)	Pathogenic	rs121912714	RCV000019576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI Q0(BELLINGHAM)	Pathogenic	rs199422211	RCV000019582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI Q0(BOLTON)	Likely pathogenic; Pathogenic	rs764325655	RCV000019590	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI Q0(CARDIFF)	Pathogenic	rs121912714	RCV000019578	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI Q0(DEVON)	Pathogenic	rs11558261	RCV000019598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI Q0(GRANITE FALLS)	Pathogenic	rs267606950	RCV000019580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI Q0(HONG KONG 1)	Pathogenic	rs1057519610	RCV000019588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI Q0(LUDWIGSHAFEN)	Pathogenic	rs28931572	RCV000019602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI Q0(NEWPORT)	Pathogenic	rs11558261	RCV000019600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI S	Pathogenic	rs17580	RCV000019569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI S(IIYAMA)	Pathogenic	rs55819880	RCV000019608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs17580	RCV005887572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SERPINA1-related disorder	Likely pathogenic; Pathogenic	rs61761869, rs1275309068, rs775982338, rs199422209, rs17580, rs28931570, rs121912714, rs1488213352, rs1555368557	RCV003409418 RCV003402971 RCV003417992 RCV003944831 RCV003415722 RCV003390693 RCV003415723 RCV004748795 RCV003409721	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Susceptibility to severe coronavirus disease (COVID-19)	Pathogenic	rs17580	RCV002466248	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs17580	RCV005887575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALPHA 1-ANTITRYPSIN DEFICIENCY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASBESTOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BERIBERI	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHIECTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMPHYSEMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRAXE	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRO-ENTEROPANCREATIC NEUROENDOCRINE TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary angioedema with normal C1Inh	Uncertain significance; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANNICULITIS, NODULAR NONSUPPURATIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI CHRISTCHURCH	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI F	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI KALSHEKER-POLLER	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI M1-ALA213	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI M2	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI M3	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI M4	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI NULL(MATTAWA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI P(ST. ALBANS)	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI V(MUNICH)	Benign; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI W(BETHESDA)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI X	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI Z	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI Z(AUGSBURG)	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI Z(BRISTOL)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI Z(TUN)	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI Z(WREXHAM)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI, M1A	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PI, M1V	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THIAMINE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	24157973		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	24157973		★☆☆☆☆ Found in Text Mining only
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	12452840		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	28885000		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	26634430, 30747826		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28440399		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28368395, 28440399		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	12488200		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adrenogenital Syndrome	Adrenogenital Syndrome	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	28328804		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	24828575		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	6973622		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	15307138		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	17241866		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	CLINVAR_DG	10194472, 10234508, 10954248, 11214903, 11334395, 11474657, 12034572, 12220457, 14522813, 14767073, 14985567, 1504305, 15454649, 15486938, 15744045, 15949707, 15978931, 1608473, 1730596, 17906067, 17964515, 18024524, 18340647, 18353624, 18515255, 1889260, 1905728, 19083091, 19437508, 19444872, 19654085, 1967187, 19738092, 20981092, 21067581, 21228398, 21457231, 21474916, 21637600, 21752289, 21960536, 22016686, 2227940, 22291048, 2240842, 22426792, 2254451, 22723858, 22735536, 22912357, 22912729, 22933512, 22971141, 22975760, 2339709, 23632999, 23837941, 23858502, 24055113, 24082139, 24183282, 24328305, 24428606, 24518491, 24713750, 2481421, 24969923, 25181470, 25391508, 2539391, 25425243, 25454901, 2567291, 2606478, 26141072, 26243289, 26304913, 26321041, 2642408, 26604020, 26672964, 26831755, 26987331, 2700304, 27296815, 2784123, 2786335, 2787118, 2788166, 2904702, 2989709, 3040726, 3257351, 3262617, 3264419, 3484754, 3491442, 3496639, 3500183, 6306478, 6600898, 7045697, 7977369, 7980208, 8340361, 8358043, 8364536, 8520784, 8970361, 9070606, 9195389, 9569237, 9635295		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	10579117, 10588615, 10811231, 11844968, 12007022, 14654440, 14760160, 15187777, 15301559, 15668502, 15994391, 16088434, 1618466, 16971227, 17654345, 17906067, 17937578, 18187064, 18433707, 18565211, 18722101, 18931508, 19021233, 19124355, 1937480, 1940268, 1967187, 1975477, 20054436, 20298391, 20521180, 20811907, 20812844, 21060150, 2117165, 21173712, 21367592, 21474916, 21498872, 21609134, 21652608, 21702661, 21727732, 21752289, 21993621, 22076419, 22330941, 22331720, 22356581, 22365503, 22426792, 22500781, 22621770, 22697347, 22836616, 22971141, 23235492, 23251618, 23273231, 23355203, 2338230, 23660934, 23864712, 2390072, 24019185, 24177906, 24191907, 24328305, 24355919, 24673984, 24713750, 24969923, 25025052, 25027067, 25287719, 25363251, 25425243, 2567291, 25979955, 26005342, 26006201, 26091018, 26141072, 26141700, 26174136, 26321041, 26341117, 26413996, 2696185, 27279429, 27296815, 27465791, 27514595, 27543976, 28120746, 28137880, 28178162, 28234047, 28328804, 28362108, 28504839, 28558837, 28668972, 28752442, 28752443, 28752445, 28752452, 28752454, 28887821, 28889108, 28915894, 28929906, 29032169, 29072333, 29206626, 29206641, 29232161, 29420065, 29430176, 29453277, 29500128, 29505478, 29572094, 29592975, 29597895, 29616482, 29641323, 29707779, 29769092, 29794204, 29795336, 29882371, 29996870, 30138687, 30194601, 30338221, 30473034, 30579752, 30633749, 30673724, 30796179, 308324, 30914495, 30929319, 30965011, 31017014, 31028847, 31097772, 31116417, 31179525, 31268521, 31293581, 31307431, 31430439, 31467115, 31661293, 31737347, 31754242, 31817705, 31819391, 3289387, 3896239, 6169740, 6189643, 6978775, 7028785, 8090762, 8302013, 8520784, 8970361, 9279535, 9447774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	CTD_human_DG	17559149, 3485249		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	GENOMICS_ENGLAND_DG	22544422, 24750955, 27296815, 30589493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alpha-1-antitrypsin deficiency	Alpha 1-Antitrypsin Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alveolitis, Fibrosing	Alveolitis	BEFREE	72955		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	72955		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31957347, 35805926	Associate	★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	BEFREE	30333144		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	30333144		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28808785		★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	28808785	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	17604188		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	36320441	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	29163550		★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	3484755, 3484756	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	31059041, 3492856, 3498603		★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	6983354		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	16870258, 17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	17659342		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	21843957	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	21843957, 7964438		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	CTD_human_DG	12692006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	28265093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	BEFREE	1974162, 19866480, 21345239, 28242648, 28835277, 30194599		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	334801	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	27382189	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	3487595	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	2784307, 32473759, 3488034	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	3492856		★☆☆☆☆ Found in Text Mining only
Asbestosis	Asbestosis	BEFREE	12368052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asbestosis	Asbestosis	LHGDN	12368052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asbestosis	Asbestosis	CTD_human_DG	12368052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	16476537, 20298391, 20609134, 2203615, 2241445, 30410723, 31298815, 7682483, 7913005, 9126209		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	16476537, 25425243, 28947017, 30530896, 33192056, 37236906, 39276924, 40508213	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	18725338		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	29470411	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	24838285, 25025052, 29795336, 30673724		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27616885, 28265093	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28265093		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	21477074		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	21477074		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16776571, 21345239, 23333354, 25523449, 29899745, 30194599		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	33542414	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	32580239	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	34559910	Associate	★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	1312055		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	BEFREE	24518491		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16870258, 17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	25487697		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	25487697	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30742181, 3499374		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	1569192, 3880873, 6604220, 8790154		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	19483159, 2191958	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	18264947		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	19844196		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	32383346	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23028511	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26158350		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15498560, 17127214, 19782370, 26158350, 32305991, 32618109, 34183495	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	2203615		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	10669684, 12452840, 17237579, 19747908, 26005342, 28668972, 30517339, 31293581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	Pubtator	17237579, 26005342, 3038256, 33192056	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	CTD_human_DG	7785020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchitis	Bronchitis	Pubtator	309951, 40508213	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis Chronic	Bronchitis	Pubtator	25425243, 32427833	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	BEFREE	6334642, 8290311		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	25474412	Inhibit	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	23276942	Associate	★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan Disease	BEFREE	18264947		★☆☆☆☆ Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease	Carbamoyl Phosphate Synthase Deficiency	BEFREE	10341883, 26243289		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26015410, 32362107, 32533048	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15498560, 1718986, 19961268, 2160076, 23935864, 24607627, 2555792, 2823229, 28561948, 31698564, 32076459, 34638908, 6326791	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21639939	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30742181, 3499374		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11899243, 16501672, 19608585, 20521180, 21173712, 22331720, 22507634, 22993338, 26287318, 28368395, 31180588, 31446980, 31487965, 3485586		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19709441, 22960333, 30917846	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15953868	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30607583	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28672746		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	29540862	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24039863, 29212317, 33469137, 40508213	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29432934, 31338581		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	34270864	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	6969683		★☆☆☆☆ Found in Text Mining only
Centriacinar Emphysema	Pulmonary Emphysema	CTD_human_DG	3485249		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18438953		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	28328804		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22126489	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28618946		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28618946, 37371133	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholecystolithiasis	Cholecystolithiasis	BEFREE	29163550, 30325047		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	29163550, 30325047, 30504769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	17241866	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	20683201, 9360432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CTD_human_DG	4117022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	17241866	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	17241866		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	6151045		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	9279535		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	20335295, 22697349, 3038256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	10588615, 11148177, 11713419, 11848724, 1349285, 15532029, 15820782, 15994391, 16278826, 16476537, 17690329, 18024524, 18044683, 18515255, 18722101, 1900677, 19300482, 19450958, 1969347, 19747908, 1980238, 19933216, 20119870, 20226649, 20298391, 20716026, 21335450, 21367592, 21574874, 21652608, 21727732, 21763297, 22075288, 22161163, 22291048, 22617718, 22621770, 22697349, 22993338, 23090857, 24177906, 24592811, 24621683, 2475424, 24763308, 24969923, 25003824, 25027067, 25416382, 2596778, 26341117, 26480348, 26915270, 26987331, 27465791, 27492524, 27614859, 27812629, 28170284, 28331304, 28380308, 28416015, 28769553, 28929906, 29049242, 29432934, 29521291, 29592975, 29616482, 29804144, 29949718, 29953442, 30160349, 30194599, 30827477, 30929319, 31467115, 31727530, 31849461, 3289388, 3485034, 3876967, 6257988, 6610506, 6972557, 72955, 7952657, 9126209, 9350828, 9434101, 9447774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	15820782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CTD_human_DG	16278826, 25579632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CLINVAR_DG	1967187, 2227940, 2254451, 2606478, 2786335, 2787118, 2989709, 3262617, 8358043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic sinusitis	Sinusitis	BEFREE	20109307		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15787598, 16088434, 17562108, 19164889, 19245336, 21624056, 21909074, 21925577, 24019185, 28178162, 28633871, 29032169, 29427759, 29572094, 29573137, 29968976, 30739910, 31517326, 6333440, 767197, 9447774		★☆☆☆☆ Found in Text Mining only
Cirrhosis, Cryptogenic	Cirrhosis	BEFREE	6354808, 6969850		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	17659342		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36496391	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33646276, 34850851	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10690536, 23300952, 24886427, 26015410, 31183614		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16755300, 19853488, 23300952, 24886427, 26015410, 31183614, 31560832, 34315829, 37950156, 39940785	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37207473	Inhibit	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	12452840, 30747770		★☆☆☆☆ Found in Text Mining only
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	Complement Component Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	15307138		★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	11583570	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	12626422, 18024528, 27214821		★☆☆☆☆ Found in Text Mining only
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	BEFREE	3498603		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29256048, 31644575, 31782085		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28004973		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	40141310	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29634656		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23188791	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	28432659		★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	19180336, 25425243	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	18258845		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18258845, 6969207, 8408656	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18340647, 6969207		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	22386972, 8091333		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis laxa	Pubtator	8091333	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Disease Of Lung	Cystic lung disease	Pubtator	10195072	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10195072, 11083501, 11112133, 11120905, 11313771, 11899243, 12124743, 12372062, 15668502, 1621744, 18264947, 19738092, 2017680, 22642257, 22697345, 23837941, 24603877, 30577776, 30739910, 7970905, 8290311, 8600939		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic Fibrosis	Cystic Fibrosis	LHGDN	16617455		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic Fibrosis	Cystic fibrosis	Pubtator	22035905	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic Fibrosis	Cystic fibrosis	Pubtator	30739910, 33946490, 40508213, 9623690	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic Fibrosis	Cystic Fibrosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	CTD_human_DG	17659342		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Spinal Cord	Degenerative Diseases, Central Nervous System	CTD_human_DG	17659342		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	12023831		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	15787598, 19245336		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	17324522, 22392975, 23144969, 35805926	Associate	★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	29115597		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	3879576		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	18565211		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23552726, 24722487		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	14766207		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23552726, 24722487		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31504048, 33542414	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	24527714, 29473705, 31957347, 33542414	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22536212	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11796176, 14712302, 16776571, 30194599, 30236025, 31795482		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28323045, 30592146, 31046673		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	21345239		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	22536212	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29778740		★☆☆☆☆ Found in Text Mining only
Diffuse alveolar hemorrhage	Diffuse alveolar hemorrhage	BEFREE	31470606		★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	37511325	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	15820772		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	19709897		★☆☆☆☆ Found in Text Mining only
Diverticulitis	Diverticulitis	BEFREE	30767045		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	135662, 6446238, 6460570, 6461441		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	22678011, 6157025, 6446238	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	2250759, 3260879, 8280835		★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	18264947		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	21835044	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	3879576		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	18353624, 1967187, 20521180, 21067581, 23055718, 23696881, 25098359, 25418171, 25425243, 25635861, 2588214, 26005342, 26141700, 27115949, 27246852, 28362108, 28380308, 28486562, 28504839, 3040726, 30517339, 32427833, 3257351, 32862719, 33192056, 34010739, 34762809, 3484754, 36797151, 40508213, 6967489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emphysema	Emphysema	Pubtator	28486562, 35146988	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	30194596		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	10935704, 17519511		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21305022	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25667209		★☆☆☆☆ Found in Text Mining only
Eosinophilia, Tropical	Eosinophilia	BEFREE	21808138, 8339638		★☆☆☆☆ Found in Text Mining only
Esophageal and Gastric Varices	Esophageal And Gastric Varices	LHGDN	18089349		★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	BEFREE	30739910		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	8089226	Associate	★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	BEFREE	21624056		★☆☆☆☆ Found in Text Mining only
Familial encephalopathy with neuroserpin inclusion bodies	Encephalopathy With Neuroserpin Inclusion Bodies	BEFREE	21624056		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	17444595	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	LHGDN	16819398		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	26634430, 28633871, 28712697, 29324588, 31530849		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	31941930	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	24518491, 26634430, 31597010		★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	10723113, 16531799		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	20511674, 25579632, 3485248		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	21421920, 21683248, 24355919, 27279429, 28752452, 29500128, 31517326, 31717526, 31817705, 6333440		★☆☆☆☆ Found in Text Mining only
Focal Emphysema	Emphysema	CTD_human_DG	3485249		★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	31957347	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	15378737		★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	CTD_human_DG	29915428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	29573789		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27990624, 29309973		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27990624, 29309973		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	21821620		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	28406696	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	28158993	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	24828575		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	38203593	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28458623, 28759053		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	16088434, 20827781, 24854378, 25172939, 29460271, 7964431, 8889441		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	LHGDN	16859601		★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	20827781, 23744167, 8315946	Associate	★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	72955		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	37324256, 37455914	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31452775		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18331966, 31644575	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29256048, 31644575, 31782085		★☆☆☆☆ Found in Text Mining only
Hematoma	Hematoma	Pubtator	27468101	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine familial type 1	Hemiplegic migraine	Pubtator	15795222, 28573794	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	7615285		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	7615285	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	16802007		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	2298753, 27468101, 412531	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	Hemorrhagic Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	412531	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	21639939	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	37651384	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	21639939	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	26409215, 31028847		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	1618466, 18164971		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	10690536		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	19657220		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	32235718, 8966716	Associate	★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	6335371		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	23552726, 31530849		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26772976, 32019243, 35216073	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29573789		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	32575434	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	28523968, 31711823		★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	9732941		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	CTD_human_DG	17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28122020, 72955		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	32362107, 9493678	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	17444595		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	14551891		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	10935704, 2117160		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	17855650, 31281523		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	LHGDN	17855650		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	16629899, 21832065, 36499685	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	27977553		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	32725203	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	15528457, 8622151		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	17241866		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	34559910	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron Overload	BEFREE	31717526		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	20505532, 23306084		★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	BEFREE	3878294		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	16900211		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	16900211		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	38096952	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	22621770	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	24848503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	28885000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	9279535		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	2387127		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	17761554		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	35805926	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11052993, 1312055, 14684378, 1530934, 15668502, 17519511, 18164971, 19961268, 20890217, 21683248, 21925577, 2211587, 221549, 28328804, 28927525, 29968976, 3005953, 30067827, 6171495, 6258829, 6327681, 6801664, 7615285, 7686528, 9626974		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15498560, 18164971		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284, 6258829		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15787598, 16088434, 17562108, 19164889, 19245336, 19961268, 21624056, 21909074, 21925577, 22425623, 23235492, 24019185, 27246852, 28178162, 28328804, 28633871, 28927525, 29032169, 29427759, 29572094, 29573137, 29968976, 30103740, 30739910, 30929319, 31251477, 31517326, 6257988, 6306478, 6333440, 767197, 7820538, 8168837, 9447774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	LHGDN	16802007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	16802007, 19961268, 20855577, 25418171, 27246852, 314754, 31517326, 31597010, 32427833, 34638908, 36107773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	20511674, 25579632, 3485248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	1512005		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	1083909, 11577132, 11582965, 1960220, 19961268, 20170533, 23251618, 23935864, 25287719, 2553776, 25843048, 26005342, 26141700, 2822074, 28504839, 28947017, 29232161, 29879455, 30739910, 31116417, 31644575, 31832977, 32699193, 32887613, 33311470, 34261618, 34398915, 34662507, 3484754, 36109566, 36768808, 37133851, 37569847, 37651384, 7024322, 8090762, 8662752	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	BEFREE	22697349, 31597010		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	23161303, 32887613, 34526035, 56137, 8090762, 8662752	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	29592975	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1530934, 2211587, 6327681, 6801664		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	28808785, 37511325	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	10030842, 10195072, 10619801, 11202478, 1427021, 15187777, 15271689, 15820772, 15888825, 17519511, 17654345, 17659342, 17906067, 18031952, 19783716, 20054436, 20170533, 20716026, 21060150, 21498872, 21702661, 22697345, 2379586, 24328305, 24969485, 25363251, 25961288, 26091018, 26446624, 26768576, 27465791, 28234047, 28752441, 28752442, 28752443, 28752452, 28752463, 28915894, 29430176, 29538751, 29597895, 2984979, 29984428, 30337619, 30338221, 30517339, 30965011, 31293581, 31298815, 3878294, 6151045, 6334642, 6600673, 6610506, 7046673, 7820538, 8290311		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	LHGDN	16137891, 17654345, 18725338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	CTD_human_DG	17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	20054436	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	20170533, 21060150, 25418171, 25425243, 25938284, 26091018, 26842628, 30517339, 30633749, 306869, 32308050, 32427833, 34217893, 34441020, 34526035, 36077263, 37097606, 37501182, 38087060, 40508213, 9623690	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases Interstitial	Lung disease	Pubtator	28425234, 40508213	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Obstructive	Lung disease	Pubtator	32482783	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	10542979, 10619801, 19747908, 21702661, 27492524, 29641323		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16117833	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17902193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	18504338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	19608585	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	20521180, 32533048, 36097589, 36287252	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	22507634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30547047		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	30170966, 30777133, 34646335	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30547047		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30170966, 30194599, 30547047, 3258268		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30547047		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25211665	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26015410	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	2387127, 6982905		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	6982905	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24828575	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33595494	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	29309973		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31452775		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	7519451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26158350		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28004973		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27102560, 28328804		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16501672, 19608585, 20521180, 21173712, 22331720, 22507634, 22993338, 26287318, 28368395, 31180588, 31446980, 31487965, 3485586		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17902193		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28672746		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18218118, 26546433, 3872237		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20643827, 27617337		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25211665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26609053		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30742181, 3499374		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15003202, 17855650, 21925577, 2208167, 24177906, 25211665, 27617337, 28440399, 29232830, 30260937, 31180588		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	11468249, 20170533, 2696185, 2787825, 6257988, 9853931		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18766166		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	17659342		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	17659342		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27617337		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	23111736	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29115597		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	18024528, 28364818, 29879989, 31530849		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	22904171, 36476855	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26174136	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26174136, 28883796		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	12527722	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	10024348, 12527722, 29470411	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	304773		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	23973714		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	15389208, 2226554, 27877030, 6333440		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	16870258, 29611101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	16870258, 17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	CLINVAR_DG	15115878, 18682522, 23632999, 26310624, 6306478, 9041988		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	12955420		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	12955420		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	40141310	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	34200496	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15389208, 2226554, 27877030, 30367882, 6333440, 7639071		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21752289, 24391723, 27877030, 306869, 32482783, 37133851	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	34638908	Inhibit	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29634656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	39377095	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12390341, 12488200, 1525759, 16900211, 19073710, 19118014, 22507634, 24045656, 25186079, 25211665, 25644184, 26097614, 27990624, 28368395, 28440399, 29859298, 30607583, 31183614, 31487965		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	28158993	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	33674298	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	15728267		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31957347, 35805926	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	CTD_human_DG	17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29573789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nodular Goiter	Nodular Goiter	BEFREE	21470421		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	17006922, 27261776, 27279429, 29324588, 31046673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21173712, 22993338, 23613495, 31487965		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23562077, 31530849		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36831252	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Albinism type 1	Ocular albinism	Pubtator	3040726	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	23973714		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic neuritis	Pubtator	24391723	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	2787142, 34270864	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	27802778, 28332697		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27802778, 28332697, 30194601, 31448632		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	31448632	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35349660	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29760609	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	28672746		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	3265332, 34997982, 6161137	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	27617337		★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	29573789		★☆☆☆☆ Found in Text Mining only
Panacinar Emphysema	Panacinar emphysema	BEFREE	12672469, 14694355, 24191907, 3896239, 6169740		★☆☆☆☆ Found in Text Mining only
Panacinar Emphysema	Panacinar emphysema	CTD_human_DG	3485249		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18218118, 26546433, 3872237		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26546433	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36712921	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	16954950, 1885078, 26634430, 6980154		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	1885078	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis Chronic	Pancreatitis	Pubtator	1885078	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	11916201, 16954950, 52776		★☆☆☆☆ Found in Text Mining only
Pancreatoblastoma	Pancreatoblastoma	BEFREE	1525759		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	BEFREE	15389208, 28098440, 29707779, 3260076		★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	Pubtator	28652721, 29592975	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis, Nodular Nonsuppurative	Nodular non-suppurative panniculitis	CTD_human_DG	3259592, 6982619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panniculitis, Nodular Nonsuppurative	Nodular non-suppurative panniculitis	BEFREE	6600598, 6982619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21470421, 27779685		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23144969, 28256260, 37219663	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29454662		★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	16088434, 20827781, 7964431, 8889441		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	19763368	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	23437119		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	305385	Associate	★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	3260879		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34183495, 36072904	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	28673451	Associate	★☆☆☆☆ Found in Text Mining only
Peyronie Disease	Peyronie Disease	BEFREE	15474273		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22904171, 29050673, 30946770, 37181037	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	8781910		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	20453271, 30739910		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	15787598, 19245336		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	1080923		★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	BEFREE	28387812		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	31957347	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20643827, 27617337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16581345, 18766166		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20643827, 22740474	Associate	★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	1569192, 7706910		★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	BEFREE	28263087, 28432659, 28541008, 28849396, 28879464		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	32019243	Associate	★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	29573789		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	3489666, 6155027, 6333440		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	10885432, 14624669, 16476537, 21067581, 21077973, 22161163, 22791992, 23226015, 23990791, 24177906, 24299514, 24975928, 25186548, 26480348, 26620975, 26771213, 28138235, 28331304, 28380308, 28416015, 29049242, 29521291, 29949718, 30068317, 30134983, 30254761, 3038256, 30517339, 30889153, 31661293, 31892136, 32089881, 32427833, 32547005, 33061344, 33106845, 33116457, 33311470, 33858475, 33909500, 34010739, 34674978, 34762809, 34784346, 36097589, 36107773, 36320441, 36422500, 37422806, 38031954, 40508213, 9350828, 9434101, 9623690	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	10572206, 10677536, 11202478, 11332931, 11468249, 11896901, 12023831, 12753532, 1320328, 15187777, 15464658, 15674733, 15905697, 16088434, 1612154, 16476537, 17251342, 17291167, 1749216, 17562108, 18263681, 18353624, 18577911, 1893597, 19515129, 19648523, 1967187, 1975477, 19840955, 20226649, 20228200, 20436173, 20521180, 20811907, 2117165, 21426261, 21477074, 21498872, 21505264, 21574874, 21752289, 21909074, 21966212, 22365503, 22386972, 22697349, 22971141, 23251618, 2338230, 23975926, 25027067, 25098359, 25218041, 25287719, 2539391, 25416382, 2553776, 2588214, 26005342, 26141700, 2624766, 26287318, 26341117, 2688991, 26915270, 26947874, 2696185, 26987331, 27246852, 27296815, 2788166, 28183045, 28362108, 28380308, 28504839, 28652721, 28668972, 28712697, 28769553, 2879934, 28929906, 2904702, 29232161, 29420065, 29430176, 29607607, 29641323, 30103740, 30194596, 30510411, 30819163, 30914495, 30956923, 30965011, 31000475, 31017014, 31091192, 31251477, 31293581, 314754, 31583408, 31661293, 3257351, 3259232, 3289385, 3289386, 3289387, 3500183, 3502102, 3880873, 4123485, 6600673, 6602621, 6972557, 6976926, 7028785, 7046673, 767197, 781898, 8168837, 8290311, 8520784, 8949968, 9070606, 9360432, 9363132, 9638392		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	LHGDN	14639110		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	CLINVAR_DG	1967187, 2227940, 2254451, 2606478, 2786335, 2787118, 2989709, 3262617, 8358043		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	CTD_human_DG	3485249		★☆☆☆☆ Found in Text Mining only
Pulmonary Eosinophilia	Pulmonary Eosinophilia	BEFREE	21808138		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	1983194, 22697347, 3487321		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	72955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reactive hypoglycemia	Reactive hypoglycemia	CTD_human_DG	17659342		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	28004973		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	21474916, 26413996, 31661293		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29096562, 31347410		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	20335295		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	21474916, 2487374, 26413996, 31661293		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	30244532	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	31338581		★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Rheumatic fever	Pubtator	334801	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	1294360, 1974162, 1983194, 19866480, 21345239, 2786461, 28409899, 3264137, 3487321, 3488034, 3492856, 58261, 6610507, 6988116, 72955		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	40508213	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25487697, 3873393		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	25487697, 28974776	Associate	★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	31023710		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	20425789	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	20425789		★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	30333144		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	30873161, 6969058	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30873161		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	36833193	Stimulate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	31957347	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	30244532	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	29619129	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	11717352, 17020933	Associate	★☆☆☆☆ Found in Text Mining only
Spontaneous pneumothorax	Spontaneous pneumothorax	BEFREE	10771802		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26552850, 31253657	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36580011	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	16971227		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	31253657		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	30607583		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26310624, 26634430, 28633871, 28712697, 29324588, 31530849		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25211665		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12923326, 24404153, 25211665, 25677901	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	15378696		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Surfactant Dysfunction	Pulmonary surfactant metabolism dysfunction	Pubtator	33526882	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	30517339	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	3487321		★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	6300070		★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine Deficiency	CTD_human_DG	17659342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thromboembolism	Thromboembolism	Pubtator	26005342	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	30633749	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	35263815	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27779685, 30214625, 34522174, 37324256, 37455914, 38131284	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26609053		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26609053		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26985959, 38131284, 38165228	Associate	★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	1569192, 19483159, 27468101	Associate	★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	27068327		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30260937, 30942417		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30260937	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30942417	Inhibit	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10579117, 18340647, 6610589		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25387487	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	3873251		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33120861	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	15820772, 6972700		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	LHGDN	15820772		★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	3261993	Associate	★☆☆☆☆ Found in Text Mining only
Variegate Porphyria	Variegate Porphyria	BEFREE	3261272		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	26772976	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	12685871, 12879958, 28029757, 37004177	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	BEFREE	16088434, 25405820, 25523449, 28652721, 29460271, 7474674, 7964431, 8315946, 8671812, 9279535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	CTD_human_DG	1684994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	34662507, 35263815, 37537391, 37762110	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	28004973		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2N	Von Willebrand Disorder	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	20425789		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	20425789	Associate	★☆☆☆☆ Found in Text Mining only