HTRA2 (HtrA serine peptidase 2)

Gene

• Entrez ID: 27429
• Gene name: HtrA serine peptidase 2
• Gene symbol: HTRA2
• Synonyms (NCBI Gene): MGCA8, OMI, PARK13, PRSS25
• Chromosome: 2
• Chromosome location: 2p13.1
• Summary: This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037592	hsa-miR-744-5p	CLASH	23622248
MIRT1057353	hsa-miR-4652-3p	CLIP-seq
MIRT1057354	hsa-miR-4677-3p	CLIP-seq
MIRT1057355	hsa-miR-4679	CLIP-seq
MIRT1057356	hsa-miR-548t	CLIP-seq
MIRT1057357	hsa-miR-1193	CLIP-seq
MIRT1057358	hsa-miR-2392	CLIP-seq
MIRT1057359	hsa-miR-3925-3p	CLIP-seq
MIRT1057360	hsa-miR-4266	CLIP-seq
MIRT1057361	hsa-miR-4426	CLIP-seq
MIRT1057362	hsa-miR-4647	CLIP-seq
MIRT1057363	hsa-miR-4660	CLIP-seq
MIRT1057364	hsa-miR-4662b	CLIP-seq
MIRT1057365	hsa-miR-4695-5p	CLIP-seq
MIRT1057366	hsa-miR-4712-5p	CLIP-seq
MIRT1057367	hsa-miR-4779	CLIP-seq
MIRT1057368	hsa-miR-633	CLIP-seq
MIRT1057369	hsa-miR-646	CLIP-seq
MIRT1057370	hsa-miR-770-5p	CLIP-seq
MIRT1057371	hsa-miR-885-3p	CLIP-seq
MIRT1057355	hsa-miR-4679	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Activation	21486948

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	24798695
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	11602612, 17297443, 25118933
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IMP	10971580, 11967569
GO:0004252	Function	Serine-type endopeptidase activity	TAS	10644717, 10873535
GO:0005515	Function	Protein binding	IPI	10971580, 11583623, 11602612, 11604410, 11801603, 15200957, 17266347, 17297443, 19502560, 20125124, 23479728, 24698088, 25118933, 28642151, 31470122, 31617661, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	10971580, 24798695
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	11583623, 11602612
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	11604410
GO:0005739	Component	Mitochondrion	TAS	18309324
GO:0005758	Component	Mitochondrial intermembrane space	IDA	15044455
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	10995577
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	10644717
GO:0005829	Component	Cytosol	IDA	11583623, 11602612, 11604410, 24798695
GO:0005856	Component	Cytoskeleton	IDA	24798695
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	10971580, 11967569, 24709290
GO:0006508	Process	Proteolysis	TAS	10873535
GO:0006672	Process	Ceramide metabolic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IMP	25118933
GO:0007628	Process	Adult walking behavior	IEA
GO:0008233	Function	Peptidase activity	IDA	11604410, 17266347, 20125124
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	IMP	24709290
GO:0008236	Function	Serine-type peptidase activity	IDA	11583623
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	18309324
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IMP	11602612
GO:0009635	Process	Response to herbicide	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0012501	Process	Programmed cell death	IBA
GO:0016020	Component	Membrane	IDA	24798695
GO:0016020	Component	Membrane	IEA
GO:0016540	Process	Protein autoprocessing	TAS	11602612
GO:0016787	Function	Hydrolase activity	IEA
GO:0019742	Process	Pentacyclic triterpenoid metabolic process	IEA
GO:0030163	Process	Protein catabolic process	IDA	17297443
GO:0030291	Function	Protein serine/threonine kinase inhibitor activity	IDA	25118933
GO:0030900	Process	Forebrain development	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	24709290
GO:0034599	Process	Cellular response to oxidative stress	NAS	24522549
GO:0034605	Process	Cellular response to heat	IDA	10971580
GO:0035458	Process	Cellular response to interferon-beta	IDA	17297443
GO:0035556	Process	Intracellular signal transduction	IDA	25118933
GO:0035631	Component	CD40 receptor complex	IEA
GO:0035631	Component	CD40 receptor complex	ISS
GO:0035694	Process	Mitochondrial protein catabolic process	TAS
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0042802	Function	Identical protein binding	IPI	11967569
GO:0043065	Process	Positive regulation of apoptotic process	IBA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	11583623, 11604410
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	11967569, 20125124
GO:0043065	Process	Positive regulation of apoptotic process	TAS	18309324
GO:0043524	Process	Negative regulation of neuron apoptotic process	TAS	18221368
GO:0045786	Process	Negative regulation of cell cycle	TAS	18309324
GO:0048666	Process	Neuron development	IEA
GO:0051082	Function	Unfolded protein binding	NAS	10644717
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0071300	Process	Cellular response to retinoic acid	IDA	17297443
GO:0071363	Process	Cellular response to growth factor stimulus	IMP	20125124
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0097194	Process	Execution phase of apoptosis	TAS	18309324
GO:1900119	Process	Positive regulation of execution phase of apoptosis	IDA	17297443
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	NAS	18221368
GO:1903146	Process	Regulation of autophagy of mitochondrion	IEA
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	24522549
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810
GO:1905090	Process	Negative regulation of type 2 mitophagy	IEA
GO:1905370	Component	Serine-type endopeptidase complex	IMP	11967569
GO:1990948	Function	Ubiquitin ligase inhibitor activity	IDA	11602612
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	20125124

Other IDs

• MIM: 606441
• HGNC: 14348
• e!Ensembl: ENSG00000115317

Protein

• UniProt ID: O43464
• Protein name: Serine protease HTRA2, mitochondrial (EC 3.4.21.108) (High temperature requirement protein A2) (HtrA2) (Omi stress-regulated endoprotease) (Serine protease 25) (Serine proteinase OMI)
• Protein function: [Isoform 1]: Serine protease that shows proteolytic activity against a non-specific substrate beta-casein (PubMed:10873535). Promotes apoptosis by either relieving the inhibition of BIRC proteins on caspases, leading to an increase in caspase ac
• PDB: 1LCY, 2PZD, 5FHT, 5M3N, 5M3O, 5TNY, 5TNZ, 5TO0, 5TO1, 5WYN, 7VGE, 8AUK, 8E2K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13365	Trypsin_2	182 → 320		Domain
  PF17820	PDZ_6	392 → 443	PDZ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed. {ECO:0000269|PubMed:10644717}.
• Sequence:

  MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWAR
  LSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLL
  LWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPIS
  NGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPL
  PTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAA
  IDFGNSGGPLVNLDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRR
  YIGVMMLTLSPSILAELQLREPSFPDVQHGVLIHKVILGSPAHRAGLRPGDVILAIGEQM
  VQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE

• Sequence length: 458

Pathways

KEGG:

Apoptosis
Apoptosis - multiple species
Parkinson disease
Pathways of neurodegeneration - multiple diseases

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
3-methylglutaconic aciduria type 8	Likely pathogenic; Pathogenic	rs1675617353, rs1407675367, rs2104369249, rs767006508, rs1057519080, rs1057519081, rs1057519082	RCV001844358 RCV004799677 RCV003146409 RCV000412669 RCV000412533 RCV000412614 RCV000412483	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HTRA2-Related Disorders	Pathogenic	rs1675486182	RCV005406203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Breast ductal adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HTRA2-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 13	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease 13, autosomal dominant, susceptibility to	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT ISCHEMIC ATTACK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOUNG-ONSET PARKINSON DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal male sexual function	Abnormal Male Sexual Function	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16968707, 21163861, 30361890	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27324898		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20202124		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37287073	Stimulate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31349020		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	26558463		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	26558463		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	26558463		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21908615		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	22923201		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	17207090		★☆☆☆☆ Found in Text Mining only
Brain Stem Ischemia, Transient	Cerebral Ischemia	CTD_human_DG	15306124		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29133591, 31208996		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31356194, 32486357	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29620624	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39528670	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17922292	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18241672		★☆☆☆☆ Found in Text Mining only
Carotid Circulation Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	15306124		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	15306124		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30412062		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19037821, 31356194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	19037821, 31356194		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31019191		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18606591		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32486357	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28602551		★☆☆☆☆ Found in Text Mining only
Crescendo Transient Ischemic Attacks	Transient Ischemic Attack	CTD_human_DG	15306124		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	30148508		★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	30034773, 30271531		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	19424634, 25884434		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25884434	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	25422467, 27881096		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	25422467, 27881096, 32196977	Associate	★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	26558463		★☆☆☆☆ Found in Text Mining only
Familial Tremor	Tremor	BEFREE	25422467		★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31547195		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18662332		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30286467		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	30114719		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30412062		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	18800009		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23581228, 29620624		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31547195		★☆☆☆☆ Found in Text Mining only
Male sexual dysfunction	Male sexual dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29133591, 31208996		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	19424634, 25884434		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18241672		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28656219		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17207090		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14612497, 21194520, 22923201, 25086674		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19037821, 31356194		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16806840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	19383853	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	Pubtator	26254420	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26254420	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	16968707	Inhibit	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21701785, 25422467, 27696117	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29241219	Stimulate	★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	24709290, 25422467, 30068699, 31547195		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	19023330		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	14645012	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14612497, 18241672, 19037821, 21447598, 29620624		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	28927158		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25288153		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21163861, 22851136	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17906618, 18174901, 18800009, 25288153, 26965693, 27208207		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	24709290		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	GENOMICS_ENGLAND_DG	27696117		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	27696117	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25086674		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18241672		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25628093	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	29168038		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28656219		★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15961413, 17680806, 17906618, 18174901, 18364387, 18401856, 18790661, 18800009, 19076428, 20036034, 20887867, 21120708, 21163861, 21338583, 21701785, 22246992, 22265821, 23024178, 24337630, 24798695, 25422467, 26604148, 27717584, 27848260, 27966490, 28243480, 29022916, 29050400, 29177768, 29855523, 30034773, 30271531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	18364387, 18401856, 19076428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	18364387, 19763263, 20036034, 21163861, 21701785, 25422467, 28429747, 34148545	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	26558463		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	30788857	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	15961413, 26604148		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	26558463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	29050400, 30788857		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	26558463		★☆☆☆☆ Found in Text Mining only
Posterior Circulation Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	15306124		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	22976834, 23242108, 24709290, 30574416		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	30574416		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17207090		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20651226	Associate	★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	LHGDN	17043678		★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	26558463		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17922292		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	26254420	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27696117	Associate	★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	11153908, 14520560		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28534645, 28602551, 31683713		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34708890	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	37287073	Stimulate	★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	CTD_human_DG	15306124		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	15306124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Ischemic Attack, Anterior Circulation	Transient Ischemic Attack	CTD_human_DG	15306124		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack, Vertebrobasilar Circulation	Transient Ischemic Attack	CTD_human_DG	15306124		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31356194	Associate	★☆☆☆☆ Found in Text Mining only
Young-onset Parkinson disease	Parkinson disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations