ELANE (elastase, neutrophil expressed)

Gene

• Entrez ID: 1991
• Gene name: Elastase, neutrophil expressed
• Gene symbol: ELANE
• Synonyms (NCBI Gene): ELA2, GE, HLE, HNE, NE, PMN-E, SCN1
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active pr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931611	T>C	Pathogenic	Coding sequence variant, missense variant
rs57246956	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs137854445	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137854446	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137854447	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs137854448	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137854449	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs137854450	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs137854451	G>A	Pathogenic	Coding sequence variant, missense variant
rs140880838	G>A	Pathogenic	Missense variant, coding sequence variant
rs199558534	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs199659114	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201117839	G>A	Pathogenic, uncertain-significance	Splice acceptor variant
rs267606781	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387906553	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs568474579	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs730880095	C>G	Likely-pathogenic	Intron variant
rs745455816	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs754277797	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs797045007	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs797045009	C>A	Pathogenic	Coding sequence variant, stop gained
rs878855315	G>T	Pathogenic	Missense variant, coding sequence variant
rs878855317	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs878855319	T>C	Pathogenic	Missense variant, coding sequence variant
rs878855320	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs878855321	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs879253882	G>A	Likely-pathogenic, pathogenic	Intron variant
rs879255272	AAACTTGCTCAACGACATCGTGAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1057518191	->GG	Pathogenic	Coding sequence variant, splice acceptor variant
rs1057520110	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064793108	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307717	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691882	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1468631555	->CCATAACCTCTC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1555709349	TCCCTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1555709367	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555710005	G>A,C	Pathogenic	Splice donor variant
rs1555710077	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555710089	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599294750	C>A	Pathogenic	Coding sequence variant, stop gained

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Activation	19620402
CEBPA	Unknown	16247445
GFI1	Unknown	18328744
LEF1	Activation	14594802;19620402
MYB	Unknown	16247445
RUNX1	Unknown	16247445
RUNX2	Activation	14594802
SPI1	Unknown	14732495;16247445

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19506020
GO:0001878	Process	Response to yeast	IEA
GO:0002020	Function	Protease binding	IPI	6980881
GO:0002438	Process	Acute inflammatory response to antigenic stimulus	IBA
GO:0002438	Process	Acute inflammatory response to antigenic stimulus	IEA
GO:0002523	Process	Leukocyte migration involved in inflammatory response	IEA
GO:0002812	Process	Biosynthetic process of antibacterial peptides active against Gram-negative bacteria	IDA	20421939
GO:0003714	Function	Transcription corepressor activity	IMP	19506020
GO:0004175	Function	Endopeptidase activity	IDA	6980881, 12887060
GO:0004252	Function	Serine-type endopeptidase activity	EXP	29539421
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	36899106
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	12114510, 12223522, 14688365, 16321984, 19506020, 21979170, 25211214, 33748632
GO:0005576	Component	Extracellular region	NAS	12114510
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	20421939, 25645918
GO:0005737	Component	Cytoplasm	IDA	19506020
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	11907569
GO:0006508	Process	Proteolysis	IDA	20421939
GO:0006508	Process	Proteolysis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	NAS	15140022
GO:0006909	Process	Phagocytosis	IBA
GO:0006909	Process	Phagocytosis	IEA
GO:0008201	Function	Heparin binding	IDA	11907569
GO:0008233	Function	Peptidase activity	IDA	11907569, 20421939
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009411	Process	Response to UV	IDA	11928814
GO:0009986	Component	Cell surface	IDA	12114510
GO:0016787	Function	Hydrolase activity	IEA
GO:0017053	Component	Transcription repressor complex	IDA	19506020
GO:0019955	Function	Cytokine binding	IPI	12393522
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030141	Component	Secretory granule	IDA	11907569
GO:0030163	Process	Protein catabolic process	NAS	12887060
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032682	Process	Negative regulation of chemokine production	IDA	12223522
GO:0032717	Process	Negative regulation of interleukin-8 production	IDA	12223522
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	14730209
GO:0035578	Component	Azurophil granule lumen	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0035580	Component	Specific granule lumen	TAS
GO:0042742	Process	Defense response to bacterium	IDA	14705961
GO:0043406	Process	Positive regulation of MAP kinase activity	NAS	14730209
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IDA	15010259
GO:0050728	Process	Negative regulation of inflammatory response	NAS	15140022
GO:0050778	Process	Positive regulation of immune response	IEA
GO:0050832	Process	Defense response to fungus	IEA
GO:0050900	Process	Leukocyte migration	IEA
GO:0050922	Process	Negative regulation of chemotaxis	NAS	15140022
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070269	Process	Pyroptotic inflammatory response	TAS
GO:0070945	Process	Neutrophil-mediated killing of gram-negative bacterium	IDA	20421939
GO:0070947	Process	Neutrophil-mediated killing of fungus	IEA
GO:1903238	Process	Positive regulation of leukocyte tethering or rolling	IEA

Other IDs

• MIM: 130130
• HGNC: 3309
• e!Ensembl: ENSG00000197561

Protein

• UniProt ID: P08246
• Protein name: Neutrophil elastase (EC 3.4.21.37) (Bone marrow serine protease) (Elastase-2) (Human leukocyte elastase) (HLE) (Medullasin) (PMN elastase)
• Protein function: Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed
• PDB: 1B0F, 1H1B, 1HNE, 1PPF, 1PPG, 2RG3, 2Z7F, 3Q76, 3Q77, 4NZL, 4WVP, 5A09, 5A0A, 5A0B, 5A0C, 5A8X, 5A8Y, 5A8Z, 5ABW, 6E69, 6F5M, 6SMA, 7CBK, 7WHU, 8D4Q, 8D4U, 8D7I, 8D7K, 8G24, 8G25, 8G26, 8QGX, 8VK5, 9ASS, 9ASX, 9ATK, 9ATU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	30 → 242	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Bone marrow cells. Neutrophil (PubMed:10947984). {ECO:0000269|PubMed:10947984}.
• Sequence:

  MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLI
  APNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVI
  LQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLGRNRGIASVLQELNVTVVTSL
  CRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN
  WIDSIIQRSEDNPCPHPRDPDPASRTH

• Sequence length: 267

Pathways

KEGG:

Neutrophil extracellular trap formation
Transcriptional misregulation in cancer
Systemic lupus erythematosus

Reactome:

Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases
Neutrophil degranulation
Antimicrobial peptides
Regulation of Complement cascade

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
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs2145144118, rs2145143911, rs137854447	RCV002264613 RCV002264621 RCV002262567	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cyclical neutropenia	Likely pathogenic; Pathogenic	rs2035673569, rs2035675760, rs2145149815, rs879253882, rs2145149748, rs2145142832, rs762470485, rs1429051935, rs2145144144, rs2145149526, rs200752339, rs730880095, rs2512164486, rs2512164614, rs137854448, rs2512168552, rs797045009, rs2512168691, rs2512165572, rs2512168318, rs2512169449, rs878855319, rs1555710005, rs2035617210, rs2512168653, rs201139487, rs2512169227, rs1442062349, rs2512164490, rs137854445, rs137854446, rs137854447, rs28931611, rs137854451, rs878855320, rs1064793108, rs57246956, rs1599294750, rs1405536870, rs137854449, rs745455816, rs2035616857, rs2035677025	RCV001796439 RCV001796457 RCV001796460 RCV001796472 RCV001796473 RCV001885394 RCV001845041 RCV001874769 RCV002028317 RCV001991511 RCV001896973 RCV000157220 RCV003050505 RCV003050506 RCV003326644 RCV002601841 RCV005222818 RCV002816182 RCV002815954 RCV003140415 RCV003140483 RCV001795378 RCV000018225 RCV002518421 RCV000018226 RCV003783724 RCV003783728 RCV003788031 RCV003807955 RCV003805974 RCV003801390 RCV000018222 RCV000018223 RCV001794455 RCV001794456 RCV002472320 RCV001336413 RCV001865281 RCV001796069 RCV001796160 RCV001796218 RCV000990117 RCV000990119 RCV001796346 RCV001796353 RCV001796350 RCV001796396 RCV001880158	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Decreased total neutrophil count	Likely pathogenic; Pathogenic	rs2512168136, rs879253882	RCV002466859 RCV001003809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ELANE-related disorder	Pathogenic; Likely pathogenic	rs1555710005, rs1131691882, rs1599290793, rs1064793108, rs745455816	RCV003919992 RCV003391363 RCV003416669 RCV003401512 RCV003392305	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neutropenia, severe congenital, 1, autosomal dominant	Likely pathogenic; Pathogenic	rs2035673569, rs2035675760, rs2145149815, rs879253882, rs2145149748, rs1555710089, rs57246956, rs2145148969, rs2145142832, rs762470485, rs1429051935, rs2145144144, rs2145149526, rs200752339, rs2145145135, rs2512164486, rs2512164614, rs137854448, rs2512168552, rs797045009, rs2512168691, rs2512165572, rs878855315, rs878855319, rs1555710005, rs2035617210, rs2512168653, rs201139487, rs2512169227, rs1442062349, rs2512164490, rs137854445, rs137854447, rs28931611, rs137854451, rs878855320, rs1064793108, rs1599294750, rs1405536870, rs137854449, rs745455816, rs2035616857, rs2035677025	RCV001796439 RCV001796457 RCV001796460 RCV001796472 RCV001796473 RCV001732835 RCV001824261 RCV001824553 RCV001885394 RCV003772372 RCV001874769 RCV002028317 RCV001991511 RCV001896973 RCV002260543 RCV003050505 RCV003050506 RCV003064526 RCV002601841 RCV000190507 RCV002816182 RCV002815954 RCV003227729 RCV001795378 RCV001267759 RCV002518421 RCV001795382 RCV003783724 RCV003783728 RCV003788031 RCV003807955 RCV003805974 RCV003801390 RCV001794454 RCV001794455 RCV001794456 RCV000018230 RCV000018232 RCV001865281 RCV001796069 RCV001332066 RCV001796218 RCV001858720 RCV001796346 RCV001796353 RCV001796350 RCV001796396 RCV001880158	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLIC HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLIC NEUTROPENIA	—	CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary angioedema with normal C1Inh	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE CONGENITAL NEUTROPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked severe congenital neutropenia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29200171		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	29200171		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29511434, 30455353, 30690339		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	14636558, 20647568, 26081156, 27499693, 27840989, 28849126		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28814946, 29782949		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	31509954		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22507634		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	27065323		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	21438592, 29020055		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	31842908		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
Alkaptonuria	Alkaptonuria	BEFREE	27454006		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	16002971, 20521180, 2117160, 21498872, 22500781, 22971141, 28408179, 28752452, 28752458, 30633749, 3896239, 6169740, 7820538		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	37118811	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	29163550		★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	26654922	Associate	★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	30957625	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29443371, 31735744		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28858301, 29437605, 30056589		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19706618, 28835277, 28881492		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	28881492, 34270864	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24928093	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15684729, 29212803, 30657578		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	16690986		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	31611883		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	18278188		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28858301, 29437605, 30056589		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	15457464, 37118811	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28192517, 31842908		★☆☆☆☆ Found in Text Mining only
Autosomal dominant severe congenital neutropenia	Congenital Neutropenia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	31509954		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	11456109		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	11456109, 32580239	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	10629570		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	10629570	Associate	★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	10629570		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	37147304	Associate	★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	11710917, 22991566, 24945093, 29025244	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	12483111		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20823156, 22213283, 25195861, 25556440, 27129972, 28468826		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12671709, 22564522, 23105141, 27129972, 28254787, 28468826, 29405541	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	27911604, 29258516, 30917927, 31151955, 31626976		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	32499333	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	10885424		★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	28103932		★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	BEFREE	9030096		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	16617093, 28950234		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23991075	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11948122, 15892999, 16002971, 16971227, 20521180, 22507634, 22915586, 22993338, 28254787, 28347540, 30626182, 30973911		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29581841		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24434637		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17622939, 29437605, 29452783, 30056589, 30065938		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	16639014		★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	29463997		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31355307	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31640144		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	23689279, 28732504		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	29200171		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	25093596	Associate	★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	31555705		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30123081, 31553973		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	20335295		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	15532029, 22993338, 25416382, 28004483, 28103932, 28769553, 28848433, 29722565, 30236095, 30633902, 30733313, 30957625, 31143784, 31362723, 31375557		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	18980523		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	36528664	Associate	★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	29463997		★☆☆☆☆ Found in Text Mining only
Cohen syndrome	Cohen Syndrome	BEFREE	30843084		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	21199654, 31527638, 31772324		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22108198		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27065323		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35836259	Associate	★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	11001877, 11278653, 11543999, 11675333, 11722436, 12091371, 12165204, 12384420, 12468929, 12745650, 12763135, 12778173, 12897784, 12963840, 14556775, 14594802, 14962902, 15059607, 15561677, 15657182, 16079102, 16551967, 16670064, 16737875, 16804117, 16822461, 17053055, 17107353, 17133096, 17202606, 17311988, 17436313, 17454774, 17761833, 17989524, 18028488, 18043239, 18328744, 18513286, 18611981, 19415009, 19620402, 19775295, 19782549, 20582973, 20803142, 21206270, 21425445, 21448199, 21595885, 21618407, 21796505, 22148006, 23206890, 23351987, 23382209, 24352879, 24458273, 24616599, 25162927, 25427142, 26174650, 26193632, 26567890, 26637693, 27270496, 27942017, 28073911, 28754797, 30028820, 30171085, 30615612, 30635825, 31009763, 31176364, 31248972, 31658467		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15008988, 31819159		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31490025		★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	BEFREE	31204543		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17622939		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17622939, 27742581, 30267986		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17622939		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28397705		★☆☆☆☆ Found in Text Mining only
Cyclic Hematopoesis	Hematopoesis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	10581030, 11001877, 11543999, 11957190, 12165204, 12745650, 14962902, 15059607, 17053055, 17436313, 17761833, 18043239, 19397594, 19415009, 20582973, 25427142, 25880377, 25912133, 26567890, 27942017, 29517659, 31574885, 31658467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic Neutropenia	CLINVAR_DG	10581030, 11675333, 14962902, 17391497, 18611981, 19036076, 20049848, 23463630, 24523240, 25427142, 25703294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic Neutropenia	UNIPROT_DG	10581030, 11001877, 14673143, 14962902, 23463630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic Neutropenia	GENOMICS_ENGLAND_DG	10581030, 11675333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic Neutropenia	ORPHANET_DG	10581030, 14673143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic neutropenia	Pubtator	11001877, 14962902, 16551967, 17761833, 19397594, 20582973, 25880377, 26567890, 29517659, 31574885, 35571273, 37138249, 37993852, 39676859	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic Neutropenia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic Neutropenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic Neutropenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Disease Of Lung	Cystic lung disease	Pubtator	29937317	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11313771, 1357002, 1569186, 21193404, 21343449, 22343221, 23316069, 24124190, 24678594, 24940638, 26376365, 26993521, 28068000, 28278205, 29401615, 29545279, 29624923, 29678944, 29903912, 29936069, 29937317, 29960875, 30917927, 31074986, 31501052, 31626976		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	12782302, 1357002, 15661927, 1569186, 16356787, 16917116, 20111696, 21193404, 21263071, 22418019, 23316069, 26221769, 26993521, 32981934, 35202587, 37187291	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	17384080	Stimulate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27587077, 28835277		★☆☆☆☆ Found in Text Mining only
Delusional disorder	Delusional Disorder	BEFREE	29081418		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30267986		★☆☆☆☆ Found in Text Mining only
Dermatitis Herpetiformis	Dermatitis herpetiformis	Pubtator	22991566	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	31842908		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27682362, 30803440, 31612267		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26517273	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27682362, 30803440, 31612267		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	26939803	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26517273, 33464544	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27811985, 28334683, 29723758, 31046673, 31809521		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31612267		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	34137469	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	24675226		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	26654922	Associate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	1541671, 20521180, 2404977, 25098359, 25416382, 30532529	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	31176364		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34555062	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29581841		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28693132		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28693132		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	31509954		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23562077, 30508576		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31472960		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31046673		★☆☆☆☆ Found in Text Mining only
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	Epilepsy With Febrile Seizures Plus	BEFREE	11118488		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	28598286, 30626536		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	LHGDN	17853021		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	31726998	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28073648		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	7952651		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30099546		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31819159		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	9375773		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	9375773	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	1335479, 24811221		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	17053055		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11590195		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	25361058	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	21438592		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30065938, 30355911		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	28137735		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	30984111		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27581620	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	20179351, 24534191		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	30816547		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	31842908		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27470511, 28030785, 30131961		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	27470511		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	8491047		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30503401, 31527638		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	31555705, 31804821		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	24848503, 30056257		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31555705		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12384420, 14594802, 16670064, 18028488, 26081156, 27035679, 27654852, 30569090		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15070688, 17412886, 20175919, 22495388, 23105141, 26081156, 27035679, 35768562, 36129940	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	15070688, 15958635, 18403643, 22495388, 23528871	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12763135, 14962902, 18403643	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	27840989, 31887298	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12384420, 12763135, 14594802, 14962902, 25427142, 27265873, 29200171		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	12763135, 12778173, 12897784, 14673143, 14962902, 15657182, 17053055, 17917547, 18661496, 19506020, 21161286, 21595885, 21618407, 24184683, 25427142, 26193632, 27887960, 27942017, 28144780, 28754797, 28881492, 31176364, 31248972, 31658467		★☆☆☆☆ Found in Text Mining only
Ligneous conjunctivitis	Ligneous Conjunctivitis	BEFREE	10066157		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10470287, 11857019, 12419825, 1335479, 21438592, 22617155, 22656864, 23403953, 25260650, 25823465, 26165647, 27134688, 27838437, 28607447, 30176945, 30808222, 31300048, 31733149		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	1541671	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	34580954	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	11313771, 12771009, 17878334, 24678594, 28278205, 28442313, 28752443, 28752452, 28854829, 29025713, 29401615, 29545279, 29678944, 29960875, 30626182, 30633749, 9030096		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	LHGDN	18211966		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22418019, 26221769, 30633749, 3260245, 32981934	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15892999, 20521180, 28254787	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22507634		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18606005, 32576231, 37118811	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18399311		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18606005		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	8491047		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	39676859	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11590195		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20823156, 22213283, 25195861, 25556440, 27129972, 28468826		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28693132		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27716619		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11948122, 15892999, 16002971, 16971227, 20521180, 22507634, 22915586, 22993338, 28254787, 28347540, 30626182, 30973911		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30610107		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12419825, 15003202, 15008988, 21323792, 25260650, 25598486, 29155217, 30610107, 31656990		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22108198		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28254787	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28350549		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30267986		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29103803		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34761615, 39231316	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	14962902, 16804117		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	14962902, 16804117		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22624626	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	27035679		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17412886, 18565849, 20175919		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	17412886		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17622939, 28222221		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17622939		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	31842908		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	25361058	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	26849431	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	31332978		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19656157, 20109337, 21431960, 2153642, 26838850, 28368206, 29067440, 29764490, 31115494		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12384420, 1335479, 16481065, 2153642, 22213283, 22507634, 22915586, 24513040, 25195861, 26880751, 27129972, 27927741, 28254787, 28830617, 28849126, 29067440, 29155217, 31340676, 31793355		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	8491047		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	14962902	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27789292		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	LHGDN	11846296, 12483111, 12745650, 15059607, 15657182, 16079102, 17436313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	BEFREE	12763135, 12778173, 12897784, 14673143, 14962902, 15657182, 17053055, 17917547, 18661496, 19506020, 21161286, 21595885, 21618407, 24184683, 25427142, 26193632, 27887960, 27942017, 28144780, 28754797, 28881492, 31176364, 31248972, 31658467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	Pubtator	12763135, 14962902, 15657182, 23206890, 23454784, 24184683, 24997149, 26193632, 28754797, 31176364, 31248972, 34580954, 35525891, 37118811, 37795094, 37855057, 37993852, 40358701	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	CTD_human_DG	17436313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	11001877, 11675333, 11722436, 12091371, 12763135, 12778173, 14673143, 14962902, 15657182, 16551967, 17107353, 17202606, 17761833, 18028488, 18513286, 18513342, 18528462, 19036076, 19398129, 19775295, 20220065, 20582973, 20803142, 21796505, 21891829, 22148006, 22624626, 23206890, 23382209, 23454784, 24458273, 24616599, 26193632, 26567890, 26637693, 28754797, 30040071, 30615612, 31176364, 31248972, 33560392, 33961760, 34580954, 35525891, 35571273, 37428870, 37795094, 37993852, 40593888	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	19620402	Inhibit	★☆☆☆☆ Found in Text Mining only
Neutropenia, Severe Congenital, Autosomal Dominant 1	Neutropenia	GENOMICS_ENGLAND_DG	10581030, 11675333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Dominant 1	Neutropenia	CLINVAR_DG	10581030, 11675333, 14962902, 17053055, 17391497, 18611981, 19036076, 20049848, 23463630, 24523240, 25427142, 25703294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Dominant 1	Neutropenia	UNIPROT_DG	11001877, 11675333, 12091371, 14962902, 17436313, 18946670, 19036076, 19415009, 19927291, 20220065, 20803142, 21425445, 23463630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Dominant 1	Neutropenia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Dominant 1	Neutropenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, X-Linked	Neutropenia	BEFREE	19036076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, X-Linked	Neutropenia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutrophilia (disorder)	Neutrophilia	BEFREE	10885424, 24124190, 30733313		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	31611883		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27261776, 31046673		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22993338		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31472960		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	BEFREE	29653565		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	29653565		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23562077, 30056589		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25388404	Associate	★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	34270864	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	28964306		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	30455353, 31727956		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	26174650		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	29525432		★☆☆☆☆ Found in Text Mining only
Papillon-Lefevre Disease	Papillon-Lefevre Disease	BEFREE	28193451		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35342758	Associate	★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	7952651		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	19763368	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	11710917, 24945093	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	10212191	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	21796505, 27807715, 30397915, 30817027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	21796505, 31574885	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pharyngitis	Pharyngitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plasminogen Deficiency, Type I	Plasminogen Deficiency	BEFREE	10066157		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28511643, 28598286		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	31842908		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29339257		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29200171		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30610107		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30610107		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	10629570		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	10629570	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	25917460, 28557008		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30131961		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34181952	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	12495942, 21483784, 24988221, 25416382, 26453303, 27880043, 28588027, 31143784, 32981934	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	10677536, 16773239, 18243764, 19136576, 1967187, 20521180, 2117160, 2117165, 21498872, 22971141, 23975926, 25098359, 25186164, 25416382, 27046438, 27492524, 28103932, 28362108, 29247616, 29339284, 29461896, 29722565, 30532529, 7028785, 9158819		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18243764, 25743626		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28814511		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	8491047		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	28442313		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	27990710, 28187039, 30612210, 31108101		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	20335295		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	32981934	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	22183031, 27495376		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24928093		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29782958		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	37147304	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	22148006, 23206890, 37993852	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	10947984, 31749032, 31764619		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	29618653		★☆☆☆☆ Found in Text Mining only
Specific granule deficiency	Specific Granule Deficiency	BEFREE	12165204		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28693132		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23562077, 30226473, 30508576		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	30816547		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37596368	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30520152		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	34137469	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tooth Diseases	Tooth disease	Pubtator	31574885	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28397705		★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	22148006	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15989693	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30131961		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	7952651		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	19036076		★☆☆☆☆ Found in Text Mining only