GSN (gelsolin)

Gene

• Entrez ID: 2934
• Gene name: Gelsolin
• Gene symbol: GSN
• Synonyms (NCBI Gene): ADF, AGEL, AMYLD4
• Chromosome: 9
• Chromosome location: 9q33.2
• Summary: The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909715	G>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, upstream transcript variant, missense variant
rs1554821138	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002639	hsa-miR-124-3p	Microarray	15685193
MIRT018068	hsa-miR-335-5p	Microarray	18185580
MIRT002639	hsa-miR-124-3p	Microarray	18668037
MIRT002639	hsa-miR-124-3p	Microarray	15685193
MIRT629489	hsa-miR-8485	HITS-CLIP	23313552
MIRT629488	hsa-miR-603	HITS-CLIP	23313552
MIRT629487	hsa-miR-103b	HITS-CLIP	23313552
MIRT002639	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT688021	hsa-miR-548an	HITS-CLIP	23313552
MIRT688020	hsa-miR-8080	HITS-CLIP	23313552
MIRT688019	hsa-miR-9500	HITS-CLIP	23313552
MIRT688018	hsa-miR-584-3p	HITS-CLIP	23313552
MIRT688017	hsa-miR-3126-5p	HITS-CLIP	23313552
MIRT688016	hsa-miR-6875-5p	HITS-CLIP	23313552
MIRT688015	hsa-miR-4419a	HITS-CLIP	23313552
MIRT688014	hsa-miR-4510	HITS-CLIP	23313552
MIRT688013	hsa-miR-6127	HITS-CLIP	23313552
MIRT688012	hsa-miR-6129	HITS-CLIP	23313552
MIRT688011	hsa-miR-6130	HITS-CLIP	23313552
MIRT688010	hsa-miR-6133	HITS-CLIP	23313552
MIRT688009	hsa-miR-4533	HITS-CLIP	23313552
MIRT688008	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT688007	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT688006	hsa-miR-6834-5p	HITS-CLIP	23313552
MIRT688005	hsa-miR-1226-5p	HITS-CLIP	23313552
MIRT688004	hsa-miR-6734-5p	HITS-CLIP	23313552
MIRT688003	hsa-miR-1304-5p	HITS-CLIP	23313552
MIRT629489	hsa-miR-8485	HITS-CLIP	23824327
MIRT629488	hsa-miR-603	HITS-CLIP	23824327
MIRT629487	hsa-miR-103b	HITS-CLIP	23824327
MIRT629486	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT629485	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT629484	hsa-miR-558	HITS-CLIP	23824327
MIRT629483	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT629482	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT629481	hsa-miR-5691	HITS-CLIP	23824327
MIRT629480	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT737455	hsa-miR-141-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), RNA-seq, qRT-PCR	31996784
MIRT629489	hsa-miR-8485	HITS-CLIP	23313552
MIRT629488	hsa-miR-603	HITS-CLIP	23313552
MIRT629487	hsa-miR-103b	HITS-CLIP	23313552
MIRT002639	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT688021	hsa-miR-548an	HITS-CLIP	23313552
MIRT688020	hsa-miR-8080	HITS-CLIP	23313552
MIRT688019	hsa-miR-9500	HITS-CLIP	23313552
MIRT688018	hsa-miR-584-3p	HITS-CLIP	23313552
MIRT688017	hsa-miR-3126-5p	HITS-CLIP	23313552
MIRT688016	hsa-miR-6875-5p	HITS-CLIP	23313552
MIRT688015	hsa-miR-4419a	HITS-CLIP	23313552
MIRT688014	hsa-miR-4510	HITS-CLIP	23313552
MIRT688013	hsa-miR-6127	HITS-CLIP	23313552
MIRT688012	hsa-miR-6129	HITS-CLIP	23313552
MIRT688011	hsa-miR-6130	HITS-CLIP	23313552
MIRT688010	hsa-miR-6133	HITS-CLIP	23313552
MIRT688009	hsa-miR-4533	HITS-CLIP	23313552
MIRT688008	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT688007	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT688006	hsa-miR-6834-5p	HITS-CLIP	23313552
MIRT688005	hsa-miR-1226-5p	HITS-CLIP	23313552
MIRT688004	hsa-miR-6734-5p	HITS-CLIP	23313552
MIRT688003	hsa-miR-1304-5p	HITS-CLIP	23313552
MIRT629489	hsa-miR-8485	HITS-CLIP	23824327
MIRT629488	hsa-miR-603	HITS-CLIP	23824327
MIRT629487	hsa-miR-103b	HITS-CLIP	23824327
MIRT629486	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT629485	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT629484	hsa-miR-558	HITS-CLIP	23824327
MIRT629483	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT629482	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT629481	hsa-miR-5691	HITS-CLIP	23824327
MIRT629480	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT1036115	hsa-miR-1183	CLIP-seq
MIRT1036116	hsa-miR-124	CLIP-seq
MIRT1036117	hsa-miR-1261	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT1036119	hsa-miR-1304	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT1036121	hsa-miR-3607-3p	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036124	hsa-miR-4521	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT1036129	hsa-miR-4753-5p	CLIP-seq
MIRT1036130	hsa-miR-4757-5p	CLIP-seq
MIRT1036131	hsa-miR-506	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT2007213	hsa-miR-141	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT2007214	hsa-miR-200a	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT2007213	hsa-miR-141	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT2007214	hsa-miR-200a	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT2239780	hsa-miR-4775	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq
MIRT1036115	hsa-miR-1183	CLIP-seq
MIRT1036117	hsa-miR-1261	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT1036121	hsa-miR-3607-3p	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002102	Component	Podosome	IDA
GO:0003779	Function	Actin binding	IDA	18266911
GO:0003779	Function	Actin binding	IEA
GO:0005509	Function	Calcium ion binding	IMP	14596804
GO:0005509	Function	Calcium ion binding	TAS	1321812
GO:0005515	Function	Protein binding	IPI	10793131, 16531231, 17470807, 17620599, 18689676, 19015515, 19574450, 19666512, 23325791, 29961565, 32814053
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	3020431
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	14596804, 19549824, 22952982
GO:0005634	Component	Nucleus	IDA	23729654
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23575248
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	3020431
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	23575248
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IEA
GO:0006911	Process	Phagocytosis, engulfment	IEA
GO:0006911	Process	Phagocytosis, engulfment	ISS
GO:0007015	Process	Actin filament organization	IGI	23575248
GO:0007417	Process	Central nervous system development	IBA
GO:0008154	Process	Actin polymerization or depolymerization	IBA
GO:0010628	Process	Positive regulation of gene expression	IMP	22952982
GO:0014891	Process	Striated muscle atrophy	IMP	19549824
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	TAS	1321812
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016528	Component	Sarcoplasm	IDA	19549824
GO:0022617	Process	Extracellular matrix disassembly	IMP
GO:0030027	Component	Lamellipodium	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030031	Process	Cell projection assembly	IBA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030041	Process	Actin filament polymerization	IDA	3020431
GO:0030041	Process	Actin filament polymerization	IEA
GO:0030041	Process	Actin filament polymerization	IMP	23729654
GO:0030042	Process	Actin filament depolymerization	IDA	30568254
GO:0030042	Process	Actin filament depolymerization	IEA
GO:0030478	Component	Actin cap	IDA	23575248
GO:0030864	Component	Cortical actin cytoskeleton	IDA	23575248
GO:0030864	Component	Cortical actin cytoskeleton	IDA
GO:0031648	Process	Protein destabilization	IMP	19549824
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035994	Process	Response to muscle stretch	IEA
GO:0035994	Process	Response to muscle stretch	ISS	30568254
GO:0036313	Function	Phosphatidylinositol 3-kinase catalytic subunit binding	IEA
GO:0036313	Function	Phosphatidylinositol 3-kinase catalytic subunit binding	IPI	30568254
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0045159	Function	Myosin II binding	IPI	23325791
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0046597	Process	Host-mediated suppression of symbiont invasion	IMP	23575248
GO:0046872	Function	Metal ion binding	IEA
GO:0051014	Process	Actin filament severing	IBA
GO:0051014	Process	Actin filament severing	IDA	3020431
GO:0051014	Process	Actin filament severing	IEA
GO:0051014	Process	Actin filament severing	IMP	23575248
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051016	Process	Barbed-end actin filament capping	IBA
GO:0051016	Process	Barbed-end actin filament capping	TAS	1321812
GO:0051127	Process	Positive regulation of actin nucleation	IEA
GO:0051127	Process	Positive regulation of actin nucleation	IMP	19666531
GO:0051693	Process	Actin filament capping	IEA
GO:0051693	Process	Actin filament capping	IMP	19666531
GO:0051693	Process	Actin filament capping	ISS
GO:0055119	Process	Relaxation of cardiac muscle	IEA
GO:0055119	Process	Relaxation of cardiac muscle	ISS	30568254
GO:0060271	Process	Cilium assembly	IMP	20393563
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 21362503, 23533145
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0071801	Process	Regulation of podosome assembly	IMP
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0086003	Process	Cardiac muscle cell contraction	IEA
GO:0086003	Process	Cardiac muscle cell contraction	ISS	30568254
GO:0097017	Process	Renal protein absorption	IMP	24601799
GO:0097284	Process	Hepatocyte apoptotic process	IMP	22952982
GO:1902174	Process	Positive regulation of keratinocyte apoptotic process	IMP	23729654
GO:1903903	Process	Regulation of establishment of T cell polarity	IMP	23575248
GO:1903906	Process	Regulation of plasma membrane raft polarization	IMP	23575248
GO:1903909	Process	Regulation of receptor clustering	IMP	23575248
GO:1903923	Process	Positive regulation of protein processing in phagocytic vesicle	IEA
GO:1903923	Process	Positive regulation of protein processing in phagocytic vesicle	ISS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS
GO:1990000	Process	Amyloid fibril formation	IMP	19904968, 24601799

Other IDs

• MIM: 137350
• HGNC: 4620
• e!Ensembl: ENSG00000148180

Protein

• UniProt ID: P06396
• Protein name: Gelsolin (AGEL) (Actin-depolymerizing factor) (ADF) (Brevin)
• Protein function: Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as wel
• PDB: 1C0F, 1C0G, 1D4X, 1DEJ, 1EQY, 1ESV, 1H1V, 1KCQ, 1MDU, 1NLV, 1NM1, 1NMD, 1P8X, 1P8Z, 1SOL, 1T44, 1YAG, 1YVN, 2FF3, 2FF6, 2FH1, 2FH2, 2FH3, 2FH4, 3A5L, 3A5M, 3A5N, 3A5O, 3CI5, 3CIP, 3CJB, 3CJC, 3FFK, 3FFN, 3TU5, 4PKG, 4PKH, 4PKI, 4S10, 4Z94, 5FAE, 5FAF, 5H3M, 5H3N, 5O2Z, 5UBO, 5ZZ0, 6H1F, 6JCO, 6JEG, 6JEH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00626	Gelsolin	75 → 158	Gelsolin repeat	Domain
  PF00626	Gelsolin	196 → 271	Gelsolin repeat	Domain
  PF00626	Gelsolin	313 → 390	Gelsolin repeat	Domain
  PF00626	Gelsolin	454 → 536	Gelsolin repeat	Domain
  PF00626	Gelsolin	574 → 642	Gelsolin repeat	Domain
  PF00626	Gelsolin	679 → 757	Gelsolin repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.
• Sequence:

  MAPHRPAPALLCALSLALCALSLPVRAATASRGASQAGAPQGRVPEARPNSMVVEHPEFL
  KAGKEPGLQIWRVEKFDLVPVPTNLYGDFFTGDAYVILKTVQLRNGNLQYDLHYWLGNEC
  SQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGYFKSGLKYKKGGVASGFKHVV
  PNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSNSNRYERLKA
  TQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKEDAANRKLAKL
  YKVSNGAGTMSVSLVADENPFAQGALKSEDCFILDHGKDGKIFVWKGKQANTEERKAALK
  TASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDPDQTDGLGLSYLSSHIANVERV
  PFDAATLHTSTAMAAQHGMDDDGTGQKQIWRIEGSNKVPVDPATYGQFYGGDSYIILYNY
  RHGGRQGQIIYNWQGAQSTQDEVAASAILTAQLDEELGGTPVQSRVVQGKEPAHLMSLFG
  GKPMIIYKGGTSREGGQTAPASTRLFQVRANSAGATRAVEVLPKAGALNSNDAFVLKTPS
  AAYLWVGTGASEAEKTGAQELLRVLRAQPVQVAEGSEPDGFWEALGGKAAYRTSPRLKDK
  KMDAHPPRLFACSNKIGRFVIEEVPGELMQEDLATDDVMLLDTWDQVFVWVGKDSQEEEK
  TEALTSAKRYIETDPANRDRRTPITVVKQGFEPPSFVGWFLGWDDDYWSVDPLDRAMAEL
  AA

• Sequence length: 782

Pathways

KEGG:

Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Viral carcinogenesis

Reactome:

Caspase-mediated cleavage of cytoskeletal proteins
Neutrophil degranulation
Amyloid fiber formation

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
Finnish type amyloidosis	Pathogenic; Likely pathogenic	rs2133433678, rs1564564688, rs2059635206, rs121909715	RCV005042601 RCV003138161 RCV003158015 RCV000017564 RCV000017565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Uncertain significance; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYLOIDOSIS, FINNISH TYPE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GSN-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AA amyloidosis	AA amyloidosis	BEFREE	19701715		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	CTD_human_DG	21751358		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18584046, 18656242		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	22552326, 27798885		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22684020, 28404947		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18656242		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18656242		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	8293178, 8737931		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	30796880		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	8208343		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	2999237		★☆☆☆☆ Found in Text Mining only
AGel amyloidosis	Amyloid Cranial Neuropathy With Lattice Corneal Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24756957, 36650038	Associate	★☆☆☆☆ Found in Text Mining only
Amyloid nephropathy	Amyloid Nephropathy	BEFREE	22938848, 24601799, 27633054		★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	BEFREE	1322359, 14639586, 16870032, 1848334, 8293178		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	10729296, 10970804, 1652889, 20740538, 24601799, 29069428, 29167514, 29455155, 31243148, 33499149, 33908214, 9109384	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyloidosis	Amyloidosis	BEFREE	10744159, 10767822, 12071640, 1311922, 14640038, 15336957, 15727635, 16258946, 16475811, 1652889, 17453628, 1848334, 19440061, 19607917, 19701715, 20937937, 21545139, 21617468, 21743312, 2176481, 22360545, 22512621, 22938848, 23356404, 23931809, 24601799, 25601851, 25828388, 26339870, 26805765, 26915616, 27137880, 27879149, 28139293, 28334940, 29167514, 29637772, 30093168, 30417985, 30848402, 31122115, 31243148, 31416615, 31814469, 31829761, 8176895, 8395367, 9354764, 9547007, 9629841		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyloidosis	Amyloidosis	LHGDN	17720986		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyloidosis	Amyloidosis	GENOMICS_ENGLAND_DG	2176164		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyloidosis Familial	Amyloidosis	Pubtator	10729296, 10767822, 11849445, 1319113, 1652889, 1849145, 2175344, 2176164, 2176481, 22068858, 26915616, 28039894, 29455155, 31243148, 32368002, 36379630, 36650038, 8243656	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis familial visceral	Visceral amyloidosis	Pubtator	20951486, 24601799, 27633054	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	BEFREE	10463954, 10767822, 11226240, 11849445, 1311149, 1319113, 14596804, 14640038, 1652889, 16870032, 1848334, 1849145, 2175344, 2176164, 2176550, 22360545, 22622774, 24601799, 28039894, 29068915, 8176895, 9354764		★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	LHGDN	14596804		★☆☆☆☆ Found in Text Mining only
Amyloidosis, familial visceral	Amyloidosis	GENOMICS_ENGLAND_DG	6975851		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	20937937, 8293178, 8737931		★☆☆☆☆ Found in Text Mining only
Amyloidosis, Primary Cutaneous	Amyloidosis	BEFREE	9109384		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	29929532	Stimulate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30976201		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	33499149	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28242648		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23418544, 27997897, 30662913, 33660820	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16100010		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	17201177, 19143767		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27923400		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	10935432, 12146803, 14533778, 15537517, 15876981		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	8639174		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	LHGDN	15310273		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10505859, 12187264, 15300799, 16815626, 23536558, 9443412		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	12613021, 17982131		★☆☆☆☆ Found in Text Mining only
Blepharochalasis	Blepharochalasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	10744159		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	28343311	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17900349	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24607942	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10481945, 12027462, 18204200, 23324580, 26061043, 26408687, 26482896, 29756217, 8895730		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23324580, 26061043, 26482896	Associate	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bulbar Palsy Progressive	Bulbar palsy	Pubtator	28039894	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10362141, 10505859, 8895730		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24614035, 28440466, 36192574	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10505859, 12187264, 15300799, 16815626, 23536558, 9443412		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12592377, 27685836, 29989053, 9443412		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	18584046	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19752005	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28599499, 31700155		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	30568254		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31002695		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Gsn-Related	Cerebral Amyloid Angiopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	BEFREE	12146803		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29545349		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21035170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	21035170		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	30796880		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	8208343		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	19440061		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28331304		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36650038	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18656242, 27573444, 30854138		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22288069, 35444189	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	27573444	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	37365287	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15213223, 22927998, 29476593, 30148861	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17130841		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	22927998		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27391159	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	25800974		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19246681, 30568254		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	25393621	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26398833		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	33499149	Associate	★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	24801599, 29068915		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy epithelial basement membrane	Corneal dystrophy	Pubtator	19710953	Associate	★☆☆☆☆ Found in Text Mining only
Corneal dystrophy, Lattice type 3	Corneal Dystrophy	BEFREE	24801599, 31829761		★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal Ulcer	BEFREE	21617468		★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	29274870		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	19701715, 27879149, 31814469		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis laxa	Pubtator	24601799	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia, familial Danish	Dementia	BEFREE	12146803, 14533778		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31280237		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25478578		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25478578		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36899335	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24096133		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19701715, 25478578		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	30180843		★☆☆☆☆ Found in Text Mining only
Diffuse skin atrophy	Diffuse skin atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal peripheral sensory neuropathy	Distal peripheral sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	19561443	Stimulate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	20847428		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	1985454	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	1985454		★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	BEFREE	2317008		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	21936896		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25600697, 8637728		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	25600697, 8637728		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25600697	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	BEFREE	21617468		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Type IV	Amyloid Polyneuropathy	ORPHANET_DG	16258946, 22068858, 22622774		★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Type IV	Amyloid Polyneuropathy	BEFREE	2176550, 8388189		★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Type V	Amyloid Polyneuropathy	BEFREE	1319113, 21743312, 29637772, 31829761		★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Type V	Amyloid Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26404905, 30097534		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	16049284	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	29114038		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10455409, 17699103, 18171980, 20528917, 26079827, 29513714		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29513714	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10455409, 17699103, 18171980, 20528917, 26079827, 29340013, 29513714		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11916500, 7519632		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11916500	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	27997897	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	28208683	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	21389683	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30568254		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19246681, 30568254		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	20606740	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22952982	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	16718746		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28077579		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	40133696	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	29466895		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	24047347		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	15198127, 24047347		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	16083875		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27633054	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	8395367		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	19440061		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29427164		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	19440061		★☆☆☆☆ Found in Text Mining only
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	BEFREE	1319113		★☆☆☆☆ Found in Text Mining only
Lattice corneal dystrophy Type II	Lattice corneal dystrophy	BEFREE	10072044, 10322122, 10389096, 10744159, 10995458, 1338910, 14640038, 1849145, 21545139, 2157434, 2162627, 2176481, 2176550, 31243148, 7550233, 7868127, 7881424, 8243656, 8383491, 8388189, 8872462, 9109384		★☆☆☆☆ Found in Text Mining only
Lattice corneal dystrophy Type II	Lattice corneal dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11568009, 30796880		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23167427	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20711619, 30796880		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	31527695		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	36881074	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21801713, 25661391, 26149653, 26823700, 28440466, 28977922		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	20606740	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28977922		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	22952982	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	20606740, 28025641	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12592377		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33660820	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31504936		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18584046	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10362141, 10481945, 12027462, 18204200, 23324580, 26061043, 26408687, 26482896, 29756217, 8895730		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25600697, 8637728		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12592377, 27685836, 29989053, 9443412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28599499, 31700155		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18584046, 18848913		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15947099, 25581609, 27924630, 29100377		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10438588, 10505859, 12187264, 15300799, 16815626, 23374291, 23536558, 9443412		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10438588, 10481945, 10505859, 12027462, 22886630, 25246592, 26662962, 26823700, 26848502, 27391159, 29340013, 30698126, 31700155		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21035170		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18656242, 30854138		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12027462, 18204200		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19544972		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	8208343		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	12459641		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12459641, 17699103, 22552326		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35444189	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31280237		★☆☆☆☆ Found in Text Mining only
Meretoja syndrome	Meretoja Syndrome	UNIPROT_DG	1338910, 2176481		★☆☆☆☆ Found in Text Mining only
Meretoja syndrome	Meretoja Syndrome	GENOMICS_ENGLAND_DG	2176164, 22938848, 6610849, 8388189		★☆☆☆☆ Found in Text Mining only
Meretoja syndrome	Meretoja Syndrome	BEFREE	8088963		★☆☆☆☆ Found in Text Mining only
Meretoja syndrome	Meretoja Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Meretoja syndrome	Meretoja Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	CTD_human_DG	15920167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma Malignant	Mesothelioma	Pubtator	15920167	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28431142, 34203775	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27633054	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28377587		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33660820, 37406976	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	35802752	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32992584	Inhibit	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19246681, 31002695		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	15198127		★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	7825584		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28107202	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10362141, 10481945, 10505859, 11196307, 12027462, 12187264, 15300799, 15364130, 16530936, 22927998, 23324580, 23940300, 26408687, 26662962, 27573444, 27798885, 28835422, 30118659, 30185973, 31369706, 8208343, 8895730, 9443412		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	24601799		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	24601799	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28039894	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20740538	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	14596804		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	25581609		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	17453628, 28039894		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15364130, 29989053, 9443412		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	10481945		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26408687		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	27153759, 37874452	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	29787615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26662962		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34440306	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28599499, 31700155		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25246592, 31700155, 38216951	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	25246592, 28599499		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18584046, 18848913		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18584046, 18848913		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16847067, 22316387, 27461278	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18584046	Inhibit	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29355489		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	CTD_human_DG	22633222		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	28673451	Stimulate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	12071640, 19701715, 22512621		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Primary amyloidosis	Amyloidosis	BEFREE	19701715		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15947099, 25581609, 27924630, 29100377		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	24601799	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28331304	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	BEFREE	31002695		★☆☆☆☆ Found in Text Mining only
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	19701715		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	30339635		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	17720986		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28814713		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18822171		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15542240, 17223013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15542240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	20937937		★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27823961, 28872708, 29320362, 30796880		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	33660820	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	10767822	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	10389096		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	10389096, 16564219		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12592377, 15364130, 26848502		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30118659, 34144901	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30118659		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26434839, 27058427	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	29545349	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	37158852	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15300799, 17982131, 37958747	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	18206169		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23925487	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	10767822, 2176481	Associate	★☆☆☆☆ Found in Text Mining only