LONP1 (lon peptidase 1, mitochondrial)

Gene

• Entrez ID: 9361
• Gene name: Lon peptidase 1, mitochondrial
• Gene symbol: LONP1
• Synonyms (NCBI Gene): CODASS, LON, LONP, LonHS, PIM1, PRSS15, hLON
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730880293	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs745742429	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs879255247	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs879255248	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs879255249	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1057521679	C>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs1555708276	TGCCCATGGCCAGGGACAGCAGGGCC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555713236	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555713731	C>T	Likely-pathogenic	Splice donor variant
rs1599475959	CGGGAGC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029135	hsa-miR-26b-5p	Microarray	19088304
MIRT051178	hsa-miR-16-5p	CLASH	23622248
MIRT038977	hsa-miR-20a-3p	CLASH	23622248
MIRT1114563	hsa-miR-3654	CLIP-seq
MIRT1114564	hsa-miR-558	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001018	Function	Mitochondrial promoter sequence-specific DNA binding	IDA	9485316
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	IEP	17418790
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003727	Function	Single-stranded RNA binding	IDA	14739292
GO:0004176	Function	ATP-dependent peptidase activity	IBA
GO:0004176	Function	ATP-dependent peptidase activity	IDA	8248235, 17420247, 37327776
GO:0004176	Function	ATP-dependent peptidase activity	IEA
GO:0004176	Function	ATP-dependent peptidase activity	IMP	14739292
GO:0004176	Function	ATP-dependent peptidase activity	TAS
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	14739292, 24520911, 33961781
GO:0005524	Function	ATP binding	IDA	14739292
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	8248235
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	IMP	12198491
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IBA
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IEA
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IMP	15683722
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0010044	Process	Response to aluminum ion	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030163	Process	Protein catabolic process	IDA	37327776
GO:0030163	Process	Protein catabolic process	IEA
GO:0032042	Process	Mitochondrial DNA metabolic process	NAS	14739292
GO:0034599	Process	Cellular response to oxidative stress	IC	12198491
GO:0034599	Process	Cellular response to oxidative stress	IDA	17420247
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035694	Process	Mitochondrial protein catabolic process	TAS
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0042731	Function	PH domain binding	IEA
GO:0042802	Function	Identical protein binding	IPI	14739292, 25574826
GO:0043531	Function	ADP binding	IDA	14739292
GO:0043560	Function	Insulin receptor substrate binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	14739292
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IEA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IEA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IDA	8248235, 17420247
GO:0051880	Function	G-quadruplex DNA binding	IDA	18174225
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0070182	Function	DNA polymerase binding	IPI	14739292
GO:0070407	Process	Oxidation-dependent protein catabolic process	IEA
GO:0070407	Process	Oxidation-dependent protein catabolic process	IMP	12198491

Other IDs

• MIM: 605490
• HGNC: 9479
• e!Ensembl: ENSG00000196365

Protein

• UniProt ID: P36776
• Protein name: Lon protease homolog, mitochondrial (EC 3.4.21.53) (LONHs) (Lon protease-like protein) (LONP) (Mitochondrial ATP-dependent protease Lon) (Serine protease 15)
• Protein function: ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix (PubMed:12198491, PubMed:15870080,
• PDB: 2X36, 6WYS, 6WZV, 6X1M, 6X27, 7KRZ, 7KSL, 7KSM, 7NFY, 7NG4, 7NG5, 7NGC, 7NGF, 7NGL, 7NGP, 7NGQ, 7OXO, 7P09, 7P0B, 7P0M, 8OJL, 8OKA, 8OM7, 8OVF, 8OVG, 9CC0, 9CC3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02190	LON_substr_bdg	123 → 368	ATP-dependent protease La (LON) substrate-binding domain	Family
  PF00004	AAA	519 → 661	ATPase family associated with various cellular activities (AAA)	Domain
  PF05362	Lon_C	736 → 949	Lon protease (S16) C-terminal proteolytic domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Duodenum, heart, lung and liver, but not thymus. {ECO:0000269|PubMed:8248235}.
• Sequence:

  MAASTGYVRLWGAARCWVLRRPMLAAAGGRVPTAAGAWLLRGQRTCDASPPWALWGRGPA
  IGGQWRGFWEASSRGGGAFSGGEDASEGGAEEGAGGAGGSAGAGEGPVITALTPMTIPDV
  FPHLPLIAITRNPVFPRFIKIIEVKNKKLVELLRRKVRLAQPYVGVFLKRDDSNESDVVE
  SLDEIYHTGTFAQIHEMQDLGDKLRMIVMGHRRVHISRQLEVEPEEPEAENKHKPRRKSK
  RGKKEAEDELSARHPAELAMEPTPELPAEVLMVEVENVVHEDFQVTEEVKALTAEIVKTI
  RDIIALNPLYRESVLQMMQAGQRVVDNPIYLSDMGAALTGAESHELQDVLEETNIPKRLY
  KALSLLKKEFELSKLQQRLGREVEEKIKQTHRKYLLQEQLKIIKKELGLEKDDKDAIEEK
  FRERLKELVVPKHVMDVVDEELSKLGLLDNHSSEFNVTRNYLDWLTSIPWGKYSNENLDL
  ARAQAVLEEDHYGMEDVKKRILEFIAVSQLRGSTQGKILCFYGPPGVGKTSIARSIARAL
  NREYFRFSVGGMTDVAEIKGHRRTYVGAMPGKIIQCLKKTKTENPLILIDEVDKIGRGYQ
  GDPSSALLELLDPEQNANFLDHYLDVPVDLSKVLFICTANVTDTIPEPLRDRMEMINVSG
  YVAQEKLAIAERYLVPQARALCGLDESKAKLSSDVLTLLIKQYCRESGVRNLQKQVEKVL
  RKSAYKIVSGEAESVEVTPENLQDFVGKPVFTVERMYDVTPPGVVMGLAWTAMGGSTLFV
  ETSLRRPQDKDAKGDKDGSLEVTGQLGEVMKESARIAYTFARAFLMQHAPANDYLVTSHI
  HLHVPEGATPKDGPSAGCTIVTALLSLAMGRPVRQNLAMTGEVSLTGKILPVGGIKEKTI
  AAKRAGVTCIVLPAENKKDFYDLAAFITEGLEVHFVEHYREIFDIAFPDEQAEALAVER

• Sequence length: 959

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
CODAS syndrome	Pathogenic; Likely pathogenic	rs730880293, rs879255248, rs879255249, rs1599439595	RCV000157620 RCV000157622 RCV000157623 RCV001027666	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LONP1-related disorder	Pathogenic; Likely pathogenic	rs2512386646, rs2512415167, rs2512409407	RCV003388195 RCV003388196 RCV004528645	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DIAPHRAGMATIC HERNIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental cataract	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL ENCEPHALOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL ENCEPHALOMYOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	29518248	Associate	★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	31072293		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24009772		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	21802138		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18708761		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30583073		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	29467592		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	30038898		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24009772		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	22722314, 27556513		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	16614247, 28698206		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	26813676		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	25551195, 29399171		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	3297908		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35699875	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31072331		★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	16266891		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23760491, 31822343		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	25551195, 29399171		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30753680	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	27088547		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	27088547	Stimulate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	36260562	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25096571		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	25096571	Associate	★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	30154155		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16418334, 21937691, 29399171, 9204986		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17476282		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	17908456, 19003546, 24274399		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	27440267		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31923470	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23142699, 25104088, 27775705, 30989585, 31496730, 31570853		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24909179, 27590579, 27604488, 30989585, 32307917, 34193159, 34666190, 40708207	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	12680209, 25553374, 26643319, 27641442		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	27641442	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17643117, 21143989, 23788038, 25121590, 25342548, 25551195, 32430337, 33762119, 34679086, 34818069	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	18708761	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18715779, 20515470, 24792014		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	25551195, 28228352	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28387905, 29093516	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18818206, 20521180, 25342548, 26916442		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	18708761, 21262926	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37943821	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26472029, 35285410	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30349298		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	21474815		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24401608	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26622071, 37511188	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	22986532	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	30304514		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	30304514	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	35699875	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	24009772		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19734450, 24659821, 29444501, 29665227		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	26472029, 31725895		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28214201		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CODAS syndrome	CODAS Syndrome	GENOMICS_ENGLAND_DG	1887855, 25574826, 25808063, 28148925, 30304514		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CODAS syndrome	CODAS Syndrome	BEFREE	25574826, 25808063, 26598328, 27102849, 28148925, 29408517, 29518248, 31547314		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CODAS syndrome	CODAS Syndrome	UNIPROT_DG	25574826, 25808063		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CODAS syndrome	CODAS Syndrome	ORPHANET_DG	25574826		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CODAS syndrome	CODAS Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CODAS syndrome	Codas syndrome	Pubtator	26598328, 29518248	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CODAS syndrome	CODAS Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CODAS syndrome	CODAS Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colitis	Colitis	BEFREE	29551611		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21690566, 23814490, 29084916		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25017063, 29516572, 29575334, 30038898, 31309477		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19638618, 22465712, 24116137, 26314956, 29516572, 37621144	Associate	★☆☆☆☆ Found in Text Mining only
Complement component 5 deficiency	Complement component deficiency	Pubtator	37730436	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CTD_human_DG	25812446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	CTD_human_DG	25812446		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Morgagni	Morgagni diaphragmatic hernia	CTD_human_DG	25812446		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22841153, 31239537		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29221116, 29472550		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28442264		★☆☆☆☆ Found in Text Mining only
COWCHOCK SYNDROME	Cowchock Syndrome	BEFREE	27102849		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	16033404		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29518248		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29518248	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21474815		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21474815		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	21474815, 29544221		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	11460166, 15808862, 22722314, 26757737, 27030389, 27556513, 31483572		★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	30264871		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	27983525		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	27983525		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	27983525	Associate	★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	16531799		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	30464610, 30666556		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	23724780		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22544323, 30718520	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23724780, 30389373, 30718520		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	23724780		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23724780, 30389373, 30718520		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	23724780		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27764809	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	19568408		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	19568408	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29544221		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33225891	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22841153, 31239537		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	24044948	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	20145274, 23576269, 24474669, 27901106, 28008178, 30624936, 31725895		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	2682662, 34679086	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	19147983, 20919829, 2682662		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	29854306		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	33762119	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	27590579, 35937947	Associate	★☆☆☆☆ Found in Text Mining only
hereditary paraganglioma	Hereditary Paraganglioma	BEFREE	24414418		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	16614247, 2210688, 26643319, 28698206		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	37910143	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29179437, 31639451		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	32504181	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18708761, 19483729	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26387536, 26990493	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	21761156, 29179437, 31066078		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30119248		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28246889		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22078270, 29551611		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27102849		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30304514	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	29518248	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18077363, 26375673, 2682662, 2837645, 30185437, 31671637, 37730436	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19703513, 21474815, 22955922, 23565217, 23974202, 25071334, 26375673, 2682662, 27641442, 27826617, 28228352, 28851457, 29635214, 29927999, 30017192, 30154155, 30185437, 30389373, 30895980, 31671637, 9204986		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19734423, 21802138, 23036488, 27054578, 28851457, 31434952, 3458216, 34679086	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21802138, 23974202, 23982740, 24659821, 24975213, 25006129, 25744718, 2644612, 27965317, 28851457, 29339551, 31434952		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	26813676, 3021636		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating 4	Hypomyelinating leukodystrophy	Pubtator	26598328	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	25553374		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	20168207		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	31923470	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25834102, 28387905, 28570979, 29093516, 29854306, 31651086		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37647804	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	37647804	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	30938885		★☆☆☆☆ Found in Text Mining only
Lumbar scoliosis	Lumbar scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18695914		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20521180, 21077998, 26916442	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25342548		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25342548	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37072752	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30791224		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30791224		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20032391, 25342548	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23119061	Associate	★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	8847898		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	14592832, 16418334, 22323447, 24970810, 30227305, 31671637, 33202420, 33581493, 34325497, 34448823, 34818069, 36881367, 37475138, 37657032, 37730436, 37975847	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17289214, 20515470, 21859846, 22451912, 23565217, 25553374, 3021636, 30895980, 31671637, 31725895, 8847898		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	35030632, 36994552	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	18180034		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	26643319		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15808862, 26643319		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	15808862, 26643319		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	20133897		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	37705050	Associate	★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	18467333		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	28197633		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23142699, 25104088, 27604488, 27775705, 30989585, 31496730, 31570853		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	27983525		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	30464610, 30666556		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26376677		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18818206, 20521180, 25342548, 26916442		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	25553374		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30349298		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18708761, 19528349, 24799066, 27596051, 31091208, 31211245		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11518967, 13679438, 14981536, 15264249, 17908456, 18708761, 19003546, 19147983, 20145274, 20191609, 20515470, 20647331, 21860423, 22193779, 22261337, 22584579, 22986532, 23565217, 23585456, 24274399, 24771642, 25451079, 25505253, 25553374, 28123608, 28599438, 30045021, 30247545, 31572520, 31730483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21993851, 26352175, 28742204		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15264249, 17908456, 18708761, 18715779, 19528349, 19568408, 20145274, 20515470, 20670681, 20919829, 21690566, 21743487, 22385334, 22722314, 23142699, 23565217, 23576269, 23755147, 24260536, 24274399, 24737044, 24799066, 24975213, 25006129, 25167922, 25238262, 25342548, 25551195, 25553374, 25834102, 26993775, 27596051, 27826617, 27901106, 27965317, 29084916, 29108877, 29219298, 29246854, 29399171, 29472550, 29496663, 30020405, 30038898, 30102806, 30154155, 30464610, 30802730, 30954777, 31362693, 31406245, 31725895, 31730483, 31836451		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29084916		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23142699, 27775705		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	12472567		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25017063, 27448973, 31160710		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	35699875	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	27102849		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	26820394, 28197633		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	33955505	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33955505	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	30304514	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31923470	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19439239, 24401608, 28940366, 29518248, 34050165, 37647804	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27102849, 29518248, 31756517		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28170315	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	31923470	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23788038, 35296653	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	17197434		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	22267603, 27564460, 35108359	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22983447, 28008178, 29327347, 30312729		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	25238262		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	31068472		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27908351, 28323876		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28323876, 28442264		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	36254306	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22840454	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30809095		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10378698, 15958052, 16546353, 17487358, 18695914, 19147983, 19528349, 19878356, 20544717, 20919829, 21993851, 22193779, 22273698, 22451912, 22700982, 23565217, 23576269, 24737044, 24799066, 25017063, 25834102, 26406598, 26643319, 27448973, 27775705, 27901106, 28050866, 28698206, 28938604, 29045385, 29084916, 29399171, 29516572, 29763603, 30102806, 30190422, 3021636, 30327305, 30349298, 30389373, 30464610, 30583073, 30948493, 31114247, 31836451, 3475233, 9204986		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	30304514	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29440296, 31310053, 31349016, 31780656		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36907773	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30304514, 31072331, 37647804	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	27102849		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18695914, 23119061, 25342548, 30583073, 31114247		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28487013		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	19439239	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26687194, 30103304, 32963582	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27826617, 28050866, 30103304		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30349298		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25080901	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	20191609		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18708761, 19528349, 24799066, 27596051, 31091208, 31211245		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	18708761, 31822343		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18708761	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23760491, 26387536, 27596051, 37943821	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	15308563	Stimulate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	27632940	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31072331		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31072331	Associate	★☆☆☆☆ Found in Text Mining only
Partial Paralysis (Paresis) Vocal Cords	Partial Paralysis Vocal Cords	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	26387536		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	25386922		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	34448823	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	26491227	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30658101, 9204986		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	19965690, 28415816		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	24970810, 30227305		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11518967, 13679438, 14981536, 15264249, 16299799, 17908456, 18708761, 19003546, 19147983, 20145274, 20191609, 20515470, 20647331, 21860423, 22140532, 22193779, 22584579, 22986532, 23565217, 23585456, 24274399, 24771642, 25451079, 25505253, 25553374, 28123608, 28599438, 30045021, 30247545, 31572520, 31730483		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	15264249, 24274399		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	LHGDN	15264249		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	CTD_human_DG	23565217		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11518967, 18056989, 18426800, 22080570, 22193779, 22261337, 22986532, 25451079, 26990493, 31730483, 32873828, 33398037, 33932111, 34679086, 34697370, 37042842	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	13679438, 14981536, 16186805, 17448597, 18056989		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	14678956, 23565217, 24771642, 27901106		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29179437, 31066078		★☆☆☆☆ Found in Text Mining only
Pyelonephritis	Pyelonephritis	BEFREE	23565217		★☆☆☆☆ Found in Text Mining only
Pyelonephritis	Pyelonephritis	CTD_human_DG	23565217		★☆☆☆☆ Found in Text Mining only
Pyelonephritis acute necrotizing	Necrotizing Pyelonephritis	CTD_human_DG	23565217		★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	BEFREE	30304514		★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	ORPHANET_DG	30304514		★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase E1 Alpha Deficiency	Pyruvate Dehydrogenase Deficiency	ORPHANET_DG	30304514		★☆☆☆☆ Found in Text Mining only
Pyruvate dehydrogenase E1-alpha deficiency	Pyruvate Dehydrogenase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29221116		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	27775705		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 9	Retinitis Pigmentosa	BEFREE	18334927		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30204915		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	37032379, 37730436	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31923470	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34261974	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	25017063		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	32504181	Stimulate	★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	29444501		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	19878356		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	27102849		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16546353, 17487358		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17487358		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20544717		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31387295		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21993851, 26352175, 28742204		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20032391, 26352175, 28742204, 29879757, 37493631	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	12441685, 22451912, 30020405, 3458216, 3475233		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	39258697	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33383107	Associate	★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	27775705		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27775704, 28668293, 28721678, 31496730		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32976598	Associate	★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	30264871		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21143989, 25526030	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24260536, 32914663	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29179437		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only