Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5654
Gene name	HtrA serine peptidase 1
Gene symbol	HTRA1
Synonyms (NCBI Gene)	ARMD7CADASIL2CARASILHtrAL56ORF480PRSS11
Chromosome	10
Chromosome location	10q26.13
Summary	This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113993969	G>A	Pathogenic	Missense variant, coding sequence variant
rs113993970	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs113993971	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs149294320	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs373287445	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587776445	G>A	Pathogenic	Coding sequence variant, missense variant
rs587776447	T>C	Pathogenic	Coding sequence variant, missense variant
rs587776449	G>A	Pathogenic	Coding sequence variant, missense variant
rs587776873	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs864622782	C>A	Pathogenic	Coding sequence variant, missense variant
rs864622783	G>A	Pathogenic	Splice acceptor variant
rs1267457680	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554952277	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1554952291	C>T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (70)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021015	hsa-miR-155-5p	Proteomics	18668040
MIRT030211	hsa-miR-26b-5p	Microarray	19088304
MIRT032028	hsa-miR-16-5p	Proteomics	18668040
MIRT646007	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT646006	hsa-miR-635	HITS-CLIP	23824327
MIRT646005	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT646007	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT646006	hsa-miR-635	HITS-CLIP	23824327
MIRT646005	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT1057351	hsa-miR-217	CLIP-seq
MIRT1057352	hsa-miR-376c	CLIP-seq
MIRT2245385	hsa-miR-1267	CLIP-seq
MIRT2245386	hsa-miR-3187-3p	CLIP-seq
MIRT2245387	hsa-miR-4435	CLIP-seq
MIRT2245388	hsa-miR-4701-5p	CLIP-seq
MIRT2245389	hsa-miR-548s	CLIP-seq
MIRT2245390	hsa-miR-588	CLIP-seq
MIRT2548620	hsa-miR-105	CLIP-seq
MIRT2548621	hsa-miR-149	CLIP-seq
MIRT2548622	hsa-miR-31	CLIP-seq
MIRT2548623	hsa-miR-3128	CLIP-seq
MIRT2548624	hsa-miR-3136-3p	CLIP-seq
MIRT2548625	hsa-miR-3150b-3p	CLIP-seq
MIRT2548626	hsa-miR-3173-3p	CLIP-seq
MIRT2548627	hsa-miR-320e	CLIP-seq
MIRT2548628	hsa-miR-451b	CLIP-seq
MIRT2548629	hsa-miR-4728-3p	CLIP-seq
MIRT2548630	hsa-miR-4784	CLIP-seq
MIRT2548631	hsa-miR-4793-5p	CLIP-seq
MIRT2548632	hsa-miR-628-5p	CLIP-seq
MIRT2548633	hsa-miR-765	CLIP-seq
MIRT2548634	hsa-miR-935	CLIP-seq
MIRT2548635	hsa-miR-943	CLIP-seq
MIRT2548620	hsa-miR-105	CLIP-seq
MIRT2245385	hsa-miR-1267	CLIP-seq
MIRT2682494	hsa-miR-1272	CLIP-seq
MIRT2682495	hsa-miR-2052	CLIP-seq
MIRT2682496	hsa-miR-2276	CLIP-seq
MIRT2548622	hsa-miR-31	CLIP-seq
MIRT2548623	hsa-miR-3128	CLIP-seq
MIRT2548624	hsa-miR-3136-3p	CLIP-seq
MIRT2548625	hsa-miR-3150b-3p	CLIP-seq
MIRT2682497	hsa-miR-3152-5p	CLIP-seq
MIRT2682498	hsa-miR-3154	CLIP-seq
MIRT2548626	hsa-miR-3173-3p	CLIP-seq
MIRT2245386	hsa-miR-3187-3p	CLIP-seq
MIRT2548627	hsa-miR-320e	CLIP-seq
MIRT2682499	hsa-miR-323-3p	CLIP-seq
MIRT2682500	hsa-miR-4320	CLIP-seq
MIRT2682501	hsa-miR-4426	CLIP-seq
MIRT2245387	hsa-miR-4435	CLIP-seq
MIRT2682502	hsa-miR-4436b-3p	CLIP-seq
MIRT2548628	hsa-miR-451b	CLIP-seq
MIRT2682503	hsa-miR-4647	CLIP-seq
MIRT2682504	hsa-miR-4652-3p	CLIP-seq
MIRT2682505	hsa-miR-4662b	CLIP-seq
MIRT2245388	hsa-miR-4701-5p	CLIP-seq
MIRT2682506	hsa-miR-4727-5p	CLIP-seq
MIRT2548629	hsa-miR-4728-3p	CLIP-seq
MIRT2682507	hsa-miR-4763-5p	CLIP-seq
MIRT2682508	hsa-miR-4772-3p	CLIP-seq
MIRT2682509	hsa-miR-4774-3p	CLIP-seq
MIRT2682510	hsa-miR-4778-5p	CLIP-seq
MIRT2548630	hsa-miR-4784	CLIP-seq
MIRT2245389	hsa-miR-548s	CLIP-seq
MIRT2245390	hsa-miR-588	CLIP-seq
MIRT2548632	hsa-miR-628-5p	CLIP-seq
MIRT2548633	hsa-miR-765	CLIP-seq
MIRT2548634	hsa-miR-935	CLIP-seq
MIRT2548635	hsa-miR-943	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001890	Process	Placenta development	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	9852107
GO:0005515	Function	Protein binding	IPI	25002585, 26436840, 28726057, 29572155, 35063084
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	TAS	9852107
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	ISS
GO:0012501	Process	Programmed cell death	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019838	Function	Growth factor binding	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380, 28327460
GO:0031012	Component	Extracellular matrix	HDA	23979707, 27068509
GO:0031012	Component	Extracellular matrix	IBA
GO:0042802	Function	Identical protein binding	IPI	21297635, 22578544, 28642151
GO:0043065	Process	Positive regulation of apoptotic process	IBA
GO:0060718	Process	Chorionic trophoblast cell differentiation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0140677	Function	Molecular function activator activity	EXP	21297635

MIM	HGNC	e!Ensembl
602194	9476	ENSG00000166033

Q92743

Protein name

Serine protease HTRA1 (EC 3.4.21.-) (High-temperature requirement A serine peptidase 1) (L56) (Serine protease 11)

Protein function

Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans,

PDB

2JOA , 2YTW , 3NUM , 3NWU , 3NZI , 3TJN , 3TJO , 3TJQ , 6Z0E , 6Z0X , 6Z0Y , 7SJN , 7SJO , 7SJP , 8SDM , 8SDP , 8SE7 , 8SE8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00219	IGFBP	37 → 89	Insulin-like growth factor binding protein	Domain
PF07648	Kazal_2	108 → 155	Kazal-type serine protease inhibitor domain	Domain
PF13365	Trypsin_2	204 → 342		Domain
PF17820	PDZ_6	413 → 464	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with strongest expression in placenta (at protein level). Secreted by synovial fibroblasts. Up-regulated in osteoarthritis and rheumatoid arthritis synovial fluids and cartilage as compared with non-arthritic (at prot

Sequence

MQIPRAALLPLLLLLLAAPASAQLSRAGRSAPLAAGCPDRCEPARCPPQPEHCEGGRARD
ACGCCEVCGAPEGAACGLQEGPCGEGLQCVVPFGVPASATVRRRAQAGLCVCASSEPVCG
SDANTYANLCQLRAASRRSERLHRPPVIVLQRGACGQGQEDPNSLRHKYNFIADVVEKIA
PAVVHIELFRKLPFSKREVPVASGSGFIVSEDGLIVTNAHVVTNKHRVKVELKNGATYEA
KIKDVDEKADIALIKIDHQGKLPVLLLGRSSELRPGEFVVAIGSPFSLQNTVTTGIVSTT
QRGGKELGLRNSDMDYIQTDAIINYGNSGGPLVNLDGEVIGINTLKVTAGISFAIPSDKI
KKFLTESHDRQAKGKAITKKKYIGIRMMSLTSSKAKELKDRHRDFPDVISGAYIIEVIPD
TPAEAGGLKENDVIISINGQSVVSANDVSDVIKRESTLNMVVRRGNEDIMITVIPEEIDP

Sequence length

480

Interactions

View interactions

	Reactome
			Degradation of the extracellular matrix

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)

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Age related macular degeneration 7	Likely pathogenic; Pathogenic	rs1432594571	RCV004066843	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARASIL syndrome	Pathogenic; Likely pathogenic	rs372750076, rs2133449474, rs587776445, rs587776448, rs864622781, rs113993971, rs113993970, rs113993969, rs113993968, rs768243150, rs587776873, rs1554950703, rs2097481554	RCV001802756 RCV001806399 RCV000144147 RCV000157766 RCV005412426 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral arterial disease	Likely pathogenic	rs864622781	RCV005622179	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic; Pathogenic	rs748074236, rs766433250, rs2097494390, rs2133449474, rs1432594571, rs2497622964, rs864622781, rs781563777, rs864622782, rs864622783, rs113993970, rs113993968, rs1554948318, rs1554950655, rs1273355332 View all (3 more)	RCV001542097 RCV004785272 RCV001785356 RCV001810331 RCV002251114 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cognitive impairment	Likely pathogenic; Pathogenic	rs113993970	RCV001003543	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HTRA1-related autosomal dominant cerebral small vessel disease	Pathogenic	rs2097481521	RCV003324043	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HTRA1-related cerebral small vessel disease	Likely pathogenic; Pathogenic	rs766433250, rs113993971, rs768243150	RCV004587176 RCV000779017 RCV004767511	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HTRA1-related disorder	Likely pathogenic; Pathogenic	rs768243150	RCV003959258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Personality changes	Likely pathogenic; Pathogenic	rs113993970	RCV001003543	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs113993970	RCV001003543	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Small vessel cerebrovascular disease	Likely pathogenic; Pathogenic	rs113993970	RCV001003928	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular dementia	Likely pathogenic; Pathogenic	rs766433250	RCV002051728	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (33)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUTTERFLY-SHAPED PIGMENTARY MACULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY-SUBCORTICAL INFARCTS-LEUKOENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL SMALL VESSEL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE AGE-RELATED MACULAR DEGENERATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DEGENERATION, AGE-RELATED, 7	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT PERIPHERAL NERVE SHEATH TUMOR WITH PERINEURIAL DIFFERENTIATION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT TRITON TUMOR	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITELLIFORM MACULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (205)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ablepharon macrostomia syndrome	Ablepharon macrostomia syndrome	Pubtator	31970928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24356998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	17053108, 17053109, 17327825, 17426452, 17438519, 17467263, 17568988, 17659362, 17679948, 17692272, 17884985, 17904186, 18079691, 18097986, 18161619 View all (114 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	17053108, 17053109, 17426452, 17438519, 17568988, 17692272, 17904186, 18079691, 18162041, 18301036, 18427598, 18682812, 19065273, 19187590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	17053108, 20385819, 23326517, 28703135, 29346644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	17053108, 20385819, 23326517, 23577725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	24979214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	21215656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GENOMICS_ENGLAND_DG	26063658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19301262, 26035313, 27379525, 31197037, 34551193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	29954413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	26207300, 31197037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	31197037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16377621, 23982886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	16377621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	16377621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	16377621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23712470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35074002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21708937, 22761798, 23580433		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21708937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22761798, 23580433	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Butterfly-shaped pigmentary macular dystrophy	Macular dystrophy, patterned	BEFREE	22893068		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL	Cadasil	Pubtator	29561953, 32188464, 34951056, 35074002, 36047879	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL Syndrome	CADASIL Syndrome	BEFREE	25929831, 27174004, 29725820, 31212292		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL Syndrome	CADASIL Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASILM	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy and migraine	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32486357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	22761798	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23712470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	14716297, 18241672, 20388781, 30131069, 30223832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19332114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21682878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22487577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	16377621, 39293776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	34946854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	35074002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	GENOMICS_ENGLAND_DG	24357685, 24500651, 26063658		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	UNIPROT_DG	26063658		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	CLINVAR_DG	11889251, 19387015, 21115960, 21482952, 22900900, 24535794, 25770224, 25772074, 25957642, 26063658, 27164673		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	BEFREE	19387015, 21062344, 21215656, 21320870, 23963851, 23983263, 25369932, 25712943, 25772074, 27164673, 28628911, 29483282, 29768431, 29797751, 30031255, 31494012 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	UNIPROT_DG	19387015		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	ORPHANET_DG	19387015, 21115960, 21482952, 22900900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Pubtator	19387015, 23963851, 24535794, 28402226, 33109952, 34510819, 34946904, 34951056	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	GENOMICS_ENGLAND_DG	24357685, 24500651, 26063658		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	23983263, 30859180, 31719132, 33746601, 36300346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28987197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	19387015, 28402226, 28782182, 29561953, 30859180, 31719132, 32239807, 33109952, 33268848, 34510819, 34626176, 34946904, 35074002, 35307828, 36047879, 36261288, 36625892 View all (2 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	21215656, 21320870, 25369932, 26063658, 27164673, 28782182, 29305662, 29561953, 29797751, 30859180		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	GENOMICS_ENGLAND_DG	26063658		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	21058051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	29531354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Occlusion	Cerebrovascular Occlusion	BEFREE	28987197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	19688690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	19796758, 21122828, 21402993, 22699975, 26171855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33268848, 35307828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28586045, 31272364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32218415, 32486357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	24084496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	31197037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	31197037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal neovascularization	Pubtator	18682806, 22247473, 33369641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	30148508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	23712470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16377621, 19657146, 19798546, 24135912, 24907345, 24957638, 26035313, 29695130, 30610922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	GENOMICS_ENGLAND_DG	24500651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	34946904, 36300346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27411924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31497227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	39378104, 40312440	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21067572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	21067572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	17053109, 17327825, 17904186, 21447678, 22247473, 22465519, 25627090, 29269042, 31658355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	34510819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	33535173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16650464, 19424634, 21098697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	16650464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	20940247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20388781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22935172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22935172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22935172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	17426452, 17679948, 17904186, 18079691, 18164066, 18316707, 18362109, 18682812, 18939352, 19065273, 19187590, 19491722, 20456446, 20538655, 21191724 View all (10 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	28703135, 28775256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	28703135, 28775256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	29730901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	22923201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24657443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	17426452, 18682806, 20381870, 21122828, 22247473, 22699975, 22705344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	19688690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	24979214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	24979214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35327982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	17438519, 17679948, 17692272, 18164066, 18206206, 18541031, 18939352, 19187590, 19202148, 19491722, 19933195, 20238042, 20456446, 21682878, 22491416 View all (13 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	18206206, 30795802, 32328755, 32979492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32620106, 36656640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	28987197		★★★★★ ★☆☆☆☆ Found in Text Mining only
HTRA1-related autosomal dominant cerebral small vessel disease	Cerebral Small Vessel Disease	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydatidiform Mole	Hydatidiform Mole	BEFREE	19688690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole, Partial	Hydatidiform Mole	BEFREE	19688690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	32191267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	21682878, 34626176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37949031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25323668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	GENOMICS_ENGLAND_DG	26063658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28586045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	31517621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	19798546, 23778376, 28432852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	22556410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	GENOMICS_ENGLAND_DG	26063658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	31497227		★★★★★ ★☆☆☆☆ Found in Text Mining only
LATE-ONSET RETINAL DEGENERATION (disorder)	RETINAL DEGENERATION	BEFREE	31385385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	31494012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20943460, 25776486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25776486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17094466		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	17094466	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27935865		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17094466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22935172	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	17438519, 17904186, 18162041, 18164066, 18206206, 18207215, 18316707, 18427598, 18682806, 18682812, 18718667, 19027484, 19043567, 19048105, 19065273 View all (72 more)	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular degeneration	Macular Degeneration	BEFREE	20346514		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular Degeneration	Macular degeneration	Pubtator	36903482	Stimulate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular Degeneration, Age-Related, 7	Age-Related Macular Degeneration	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 7	Age-Related Macular Degeneration	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy retinal 1 North Carolina type	Macular dystrophy	Pubtator	29096998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21708937, 22761798, 23580433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16650464, 19424634, 21098697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22935172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27935865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	14716297, 18241672, 30131069, 30223832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30484491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16767218, 25761858, 31088682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23712470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16650464, 22923201, 23079781, 24356998, 24907345, 26035313, 29409460, 29713059, 29863874, 30484491, 31088682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	ORPHANET_DG	27723760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant peripheral nerve sheath tumor	Malignant Peripheral Nerve Sheath Tumor	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23580433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis Cutaneous	Mastocytosis	Pubtator	30148508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	19688690		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12242667, 16650464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	18681782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	23747913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	19680273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29383007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14716297, 16767218, 19424634, 20943460, 21098697, 22761798, 22935172, 23079781, 23580433, 23712470, 23747913, 24356998, 26035313, 29409460, 29713059, 30131069, 30273602 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22535953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22851136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26310622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	ORPHANET_DG	27723760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	19688690		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Age-related macular degeneration	Age-related macular degeneration	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31517621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	16377621, 17968891, 19301262, 21279997, 26035313, 29695130	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	40374042	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	30131069, 30223832		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	14716297, 18241672		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	14716297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16767218	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21387310, 30131069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30484491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30484491	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29163548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22923201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15917099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	24979214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	24979214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	24979214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33535173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent subcortical infarcts	Subcortical Infarcts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	39264086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30273602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	36822266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23982886, 24907345, 30471320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	33743591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	Pubtator	33025139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	BEFREE	30068478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylosis	Spondylosis	Pubtator	19387015, 33109952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23079781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37842043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status cribrosum	Status cribrosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16767218, 25761858, 31088682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	26568477, 37183214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16767218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30611258, 37490912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32106772, 33746601, 34946904, 36300346, 36580209, 36958462	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	23983263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	23712470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28586045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29483282, 29713059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	33369641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HTRA1 (HtrA serine peptidase 1)