CST3 (cystatin C)

Gene

• Entrez ID: 1471
• Gene name: Cystatin C
• Gene symbol: CST3
• Synonyms (NCBI Gene): ADLDWA, ARMD11, HEL-S-2
• Chromosome: 20
• Chromosome location: 20p11.21
• Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1064039	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs28939068	A>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019152	hsa-miR-335-5p	Microarray	18185580
MIRT030271	hsa-miR-26b-5p	Microarray	19088304
MIRT618226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618224	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618223	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618222	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618221	hsa-miR-4303	HITS-CLIP	23824327
MIRT618220	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT618219	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT618218	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT618217	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT618216	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT618226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618224	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618223	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618222	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618221	hsa-miR-4303	HITS-CLIP	23824327
MIRT618220	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT618219	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT618218	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT618217	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT618216	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT618226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618224	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618223	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618222	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618221	hsa-miR-4303	HITS-CLIP	23824327
MIRT618220	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT618219	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT618218	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT618217	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT618216	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT618226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618224	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618223	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618222	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618221	hsa-miR-4303	HITS-CLIP	23824327
MIRT618220	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT618219	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT618218	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT618217	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT618216	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT618226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618224	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618223	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618222	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618221	hsa-miR-4303	HITS-CLIP	23824327
MIRT618220	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT618219	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT618218	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT618217	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT618216	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT618226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618224	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618223	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618222	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT618221	hsa-miR-4303	HITS-CLIP	23824327
MIRT618220	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT618219	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT618218	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT618217	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT618216	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT913298	hsa-miR-1207-5p	CLIP-seq
MIRT913299	hsa-miR-1286	CLIP-seq
MIRT913300	hsa-miR-137	CLIP-seq
MIRT913301	hsa-miR-1909	CLIP-seq
MIRT913302	hsa-miR-1972	CLIP-seq
MIRT913303	hsa-miR-1976	CLIP-seq
MIRT913304	hsa-miR-2355-5p	CLIP-seq
MIRT913305	hsa-miR-25	CLIP-seq
MIRT913306	hsa-miR-3120-5p	CLIP-seq
MIRT913307	hsa-miR-3150a-3p	CLIP-seq
MIRT913308	hsa-miR-3175	CLIP-seq
MIRT913309	hsa-miR-3194-5p	CLIP-seq
MIRT913310	hsa-miR-32	CLIP-seq
MIRT913311	hsa-miR-3622a-5p	CLIP-seq
MIRT913312	hsa-miR-363	CLIP-seq
MIRT913313	hsa-miR-367	CLIP-seq
MIRT913314	hsa-miR-3689a-3p	CLIP-seq
MIRT913315	hsa-miR-3689c	CLIP-seq
MIRT913316	hsa-miR-3689d	CLIP-seq
MIRT913317	hsa-miR-3714	CLIP-seq
MIRT913318	hsa-miR-3940-3p	CLIP-seq
MIRT913319	hsa-miR-4269	CLIP-seq
MIRT913320	hsa-miR-4423-3p	CLIP-seq
MIRT913321	hsa-miR-4447	CLIP-seq
MIRT913322	hsa-miR-4459	CLIP-seq
MIRT913323	hsa-miR-4472	CLIP-seq
MIRT913324	hsa-miR-4489	CLIP-seq
MIRT913325	hsa-miR-4508	CLIP-seq
MIRT913326	hsa-miR-455-3p	CLIP-seq
MIRT913327	hsa-miR-4651	CLIP-seq
MIRT913328	hsa-miR-4655-5p	CLIP-seq
MIRT913329	hsa-miR-4685-5p	CLIP-seq
MIRT913330	hsa-miR-4717-3p	CLIP-seq
MIRT913331	hsa-miR-4722-5p	CLIP-seq
MIRT913332	hsa-miR-4728-5p	CLIP-seq
MIRT913333	hsa-miR-4763-3p	CLIP-seq
MIRT913334	hsa-miR-501-3p	CLIP-seq
MIRT913335	hsa-miR-502-3p	CLIP-seq
MIRT913336	hsa-miR-548q	CLIP-seq
MIRT913337	hsa-miR-608	CLIP-seq
MIRT913338	hsa-miR-769-5p	CLIP-seq
MIRT913339	hsa-miR-92a	CLIP-seq
MIRT913340	hsa-miR-92b	CLIP-seq
MIRT913341	hsa-miR-939	CLIP-seq
MIRT913342	hsa-miR-940	CLIP-seq
MIRT913303	hsa-miR-1976	CLIP-seq
MIRT913306	hsa-miR-3120-5p	CLIP-seq
MIRT1970861	hsa-miR-370	CLIP-seq
MIRT1970862	hsa-miR-4297	CLIP-seq
MIRT1970863	hsa-miR-942	CLIP-seq
MIRT913298	hsa-miR-1207-5p	CLIP-seq
MIRT913299	hsa-miR-1286	CLIP-seq
MIRT913300	hsa-miR-137	CLIP-seq
MIRT913301	hsa-miR-1909	CLIP-seq
MIRT913303	hsa-miR-1976	CLIP-seq
MIRT913304	hsa-miR-2355-5p	CLIP-seq
MIRT913305	hsa-miR-25	CLIP-seq
MIRT913306	hsa-miR-3120-5p	CLIP-seq
MIRT913307	hsa-miR-3150a-3p	CLIP-seq
MIRT913308	hsa-miR-3175	CLIP-seq
MIRT913310	hsa-miR-32	CLIP-seq
MIRT913312	hsa-miR-363	CLIP-seq
MIRT913313	hsa-miR-367	CLIP-seq
MIRT913316	hsa-miR-3689d	CLIP-seq
MIRT913317	hsa-miR-3714	CLIP-seq
MIRT913319	hsa-miR-4269	CLIP-seq
MIRT1970862	hsa-miR-4297	CLIP-seq
MIRT913321	hsa-miR-4447	CLIP-seq
MIRT913322	hsa-miR-4459	CLIP-seq
MIRT913323	hsa-miR-4472	CLIP-seq
MIRT913324	hsa-miR-4489	CLIP-seq
MIRT913325	hsa-miR-4508	CLIP-seq
MIRT913326	hsa-miR-455-3p	CLIP-seq
MIRT913328	hsa-miR-4655-5p	CLIP-seq
MIRT2206618	hsa-miR-4712-3p	CLIP-seq
MIRT913330	hsa-miR-4717-3p	CLIP-seq
MIRT913331	hsa-miR-4722-5p	CLIP-seq
MIRT913332	hsa-miR-4728-5p	CLIP-seq
MIRT913333	hsa-miR-4763-3p	CLIP-seq
MIRT913334	hsa-miR-501-3p	CLIP-seq
MIRT913335	hsa-miR-502-3p	CLIP-seq
MIRT913336	hsa-miR-548q	CLIP-seq
MIRT913338	hsa-miR-769-5p	CLIP-seq
MIRT913339	hsa-miR-92a	CLIP-seq
MIRT913340	hsa-miR-92b	CLIP-seq
MIRT913341	hsa-miR-939	CLIP-seq
MIRT913342	hsa-miR-940	CLIP-seq
MIRT1970863	hsa-miR-942	CLIP-seq
MIRT913314	hsa-miR-3689a-3p	CLIP-seq
MIRT913315	hsa-miR-3689c	CLIP-seq
MIRT913316	hsa-miR-3689d	CLIP-seq
MIRT913327	hsa-miR-4651	CLIP-seq
MIRT913329	hsa-miR-4685-5p	CLIP-seq
MIRT913332	hsa-miR-4728-5p	CLIP-seq
MIRT913337	hsa-miR-608	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IPI	18026102
GO:0002020	Function	Protease binding	IPI	6203523, 7890620
GO:0004866	Function	Endopeptidase inhibitor activity	IDA	15127951
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IBA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IDA	3488317, 6203523, 7890620, 8999869
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	15127951, 17462596, 25630877, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IMP	18026102
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	3488317, 18613859, 28904096
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	TAS	28904096
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	15212960
GO:0005886	Component	Plasma membrane	IDA	22365146
GO:0006952	Process	Defense response	IDA	6203523
GO:0006955	Process	Immune response	TAS	18256700
GO:0010711	Process	Negative regulation of collagen catabolic process	IMP	10545518
GO:0010716	Process	Negative regulation of extracellular matrix disassembly	IDA	7890620
GO:0010716	Process	Negative regulation of extracellular matrix disassembly	IMP	10545518
GO:0030414	Function	Peptidase inhibitor activity	IDA	18256700
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031982	Component	Vesicle	IBA
GO:0034103	Process	Regulation of tissue remodeling	IMP	10545518
GO:0042802	Function	Identical protein binding	IPI	25479090, 26865059
GO:0045861	Process	Negative regulation of proteolysis	IDA	3488317, 6203523
GO:0060311	Process	Negative regulation of elastin catabolic process	IMP	10545518
GO:0060313	Process	Negative regulation of blood vessel remodeling	IMP	10545518
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0097435	Process	Supramolecular fiber organization	IMP	18026102
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 604312
• HGNC: 2475
• e!Ensembl: ENSG00000101439

Protein

• UniProt ID: P01034
• Protein name: Cystatin-C (Cystatin-3) (Gamma-trace) (Neuroendocrine basic polypeptide) (Post-gamma-globulin)
• Protein function: As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.
• PDB: 1G96, 1R4C, 1TIJ, 3GAX, 3NX0, 3PS8, 3QRD, 3S67, 3SVA, 6ROA, 6RPV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00031	Cystatin	37 → 132	Cystatin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in various body fluids, such as the cerebrospinal fluid and plasma. Expressed in highest levels in the epididymis, vas deferens, b
• Sequence:

  MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASVEEEGVRRALDFAVGEY
  NKASNDMYHSRALQVVRARKQIVAGVNYFLDVELGRTTCTKTQPNLDNCPFHDQPHLKRK
  AFCSFQIYAVPWQGTMTLSKSTCQDA

• Sequence length: 146

Pathways

KEGG:

Salivary secretion

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
Amyloid fiber formation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hereditary cerebral amyloid angiopathy, Icelandic type	Pathogenic	rs28939068	RCV000005988	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACYS AMYLOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Age related macular degeneration 11	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CST3-related Leukodystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 11	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOSAL FIBROSIS, INCLUDING OF TONGUE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOUS FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	27910111, 30543877		★☆☆☆☆ Found in Text Mining only
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	17192785, 18026100		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	24952865, 28143410, 29339356, 29343076, 30371283, 30871390		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	GWASCAT_DG	24952865		★☆☆☆☆ Found in Text Mining only
Acute Inflammatory Demyelinating Polyneuropathy	Inflammatory Demyelinating Polyneuropathy	BEFREE	29904402		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	22005293, 28885000		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16029452		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30581500, 31366007		★☆☆☆☆ Found in Text Mining only
ACys amyloidosis	Hereditary Cerebral Amyloid Angiopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Age related macular degeneration	Age-related macular degeneration	BEFREE	11815350, 21106043, 25893795, 30655567		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	11815350		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Age-Related Macular Degeneration type 11	Age-Related Macular Degeneration	UNIPROT_DG	11815350, 19838169, 2764935		★☆☆☆☆ Found in Text Mining only
Age-Related Macular Degeneration type 11	Age-Related Macular Degeneration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Age-Related Macular Degeneration type 11	Age-Related Macular Degeneration	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	7873876		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11549598, 12016588, 12787072, 19917302, 23735279, 25893795, 26409164, 26845025, 27845782, 28554490, 29046353, 34551193, 36899848	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15907478, 34551193	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18824671, 19584436	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	17192785, 18026100		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	8361651		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	10993992, 11074789, 14672279, 16213753, 17310123, 19293566, 19382231		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	17192785, 18026100		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	17192785, 18026100		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	17192785, 18026100		★☆☆☆☆ Found in Text Mining only
Amyloid angiopathy	Amyloid angiopathy	Pubtator	15028721	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	10193512, 14533778, 17552057, 17963746, 18026102, 18408364, 21256848, 23273574, 2541223, 28487367, 29046353, 8108423, 8866434, 9860845		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	2541223, 29455155, 3495457, 3517880, 3707586	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis Familial	Amyloidosis	Pubtator	11849445, 29455155	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	BEFREE	11849445, 19225789		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	16313519	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16443201, 20583124, 20849835, 22252998, 27016404, 28632899, 29249381, 29282717, 29989057, 30016754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	16481598		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	20583124, 21151566	Inhibit	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	28632899		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30465328, 31490754		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	38353026	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	27582023		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	14716800	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	15882666		★☆☆☆☆ Found in Text Mining only
Angioblastic Meningioma	Angioblastic Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Angiomatous Meningioma	Angiomatous Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	30994369		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	31096818		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	14716800, 17322367, 18155003, 22804761, 24833013	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	14716800, 14726415, 20472891, 24833013, 30262158		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	36226463	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	31637257		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14726415, 15860739, 17552057, 20417681, 27582023, 28505377, 28535187, 28914371, 28922364, 28978867, 29090609, 29193529, 29453992		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	35033099	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29777230		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22057131		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	14726415, 15860739, 17552057, 20417681, 27582023, 28505377, 28535187, 28914371, 28922364, 28978867, 29090609, 29453992		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	20690093, 27353608, 29090609	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28108549, 29022500, 30158135, 30675144		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	10411341, 10935432, 12146803, 14533778, 15537517, 15876981, 16612983, 18508448, 7482672, 9063500		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29315460, 29355583		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	31011584		★☆☆☆☆ Found in Text Mining only
Benign Meningioma	Benign Meningioma	BEFREE	15832773		★☆☆☆☆ Found in Text Mining only
Benign Meningioma	Benign Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	28812020		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29749360		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	25213770	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	21415918	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15792117, 22898924, 26757339, 29088746, 30344712		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26757339	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27592448, 33172965	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	27981896		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26757339	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	7665147		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31115549	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38134103	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29749360		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15138478		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30257338	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37841237	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	14726415, 18940290, 19151417, 21986502, 23932088, 25589536, 26938304, 27561768, 27856090, 27876431, 28168796, 28484878, 28579260, 28735291, 28749732, 28978867, 29090609, 29254149, 29442538, 30675144, 31130557, 31313057, 31317040, 31700174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	18940290, 19151417, 21415918, 23932088, 24392614, 26057752, 27353608, 27561768, 29090609, 34774109	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	21356263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37817071	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	30278805		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	10636160, 16612983, 18508448, 23973860, 28067897, 7482672, 9063500		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	LHGDN	16612983		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	28067897, 31330077	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy Familial	Cerebral amyloid angiopathy	Pubtator	1979681, 2541223, 28067897, 28487367, 33758187, 3495457, 3517880, 8108423, 9445375	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Genetic	Cerebral Amyloid Angiopathy	CTD_human_DG	18566660		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Hereditary	Cerebral Amyloid Angiopathy	BEFREE	11202179, 2436360, 2541223, 3517880, 3707586, 6886625, 7482672, 8085435, 9565605		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Hereditary	Cerebral Amyloid Angiopathy	CTD_human_DG	18566660		★☆☆☆☆ Found in Text Mining only
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	BEFREE	12146803, 19225789		★☆☆☆☆ Found in Text Mining only
Cerebral artery stenosis	Cerebral artery stenosis	BEFREE	28978025		★☆☆☆☆ Found in Text Mining only
Cerebral Convexity Meningioma	Cerebral Convexity Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	2541223, 28067897, 31330077	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type	Cerebral Amyloid Angiopathy	BEFREE	9063500		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30805744, 31313057		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37944982	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	27727072, 29930507		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11202179, 16612983, 2541223, 27999137, 28526765, 29722001, 30398035, 30519802, 31603990, 31719258, 8579098		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	18511756, 29149834		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	27339445, 27814282, 28682890, 29190922, 29343076, 30830654, 31190296		★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	25367815		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	30820184		★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	BEFREE	28187233		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 2	Kidney Disease	BEFREE	30729347		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11592445, 27894952, 28417217, 28535187, 28648303, 29974312, 30035656, 31139603, 31185945		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	18522750, 18940290, 19430482, 20383146, 23932088, 25465167, 27125433, 27177318, 27542858, 27726176, 27856090, 27981896, 28147348, 28151912, 28182761, 28206617, 28273641, 28296256, 28320132, 28407629, 28484878, 28578261, 28579260, 28693441, 28787218, 28833355, 28873129, 28901886, 29016597, 29069842, 29281176, 29332011, 29482502, 29483105, 29513723, 29536424, 29735307, 29757410, 29762739, 29779032, 29794781, 29912597, 29948865, 29992019, 30359254, 30427947, 30563479, 30601335, 30890591, 30940115, 31084924, 31122413, 31256154, 31311014, 31313333, 31561432, 31665726, 31793519		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	20383146		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	23900981, 30481791, 30584402, 30773817		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27435243, 28787218, 29392554, 30830657		★☆☆☆☆ Found in Text Mining only
Clear Cell Meningioma	Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	18508448		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25609760	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30504006		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27190304		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30648340		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39940785	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30830657		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19307473, 22252998		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	19808324		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	31203159		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	28681080		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19808324, 27561768, 27881568, 28515118, 28735291, 28756070, 29478109, 29482026, 29771963, 29896315, 30371283, 30427997, 30773798, 30820184, 31238302, 31339668		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28586363, 30257338		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	14726415, 15860739, 21986502, 28599259, 28978867, 29595358, 30643006		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	14726415, 15860739, 21986502, 27441467, 27910111, 28168796, 28321013, 28599259, 28749732, 28978867, 29595358, 30643006		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	14726415, 17660266		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20690093, 22978689, 26057752, 28189145, 32481372	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37817071	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	19816865, 32481372, 35800677	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	14726415, 15860739, 21986502, 28585121, 28599259, 28978867, 29595358, 29771963, 30398035, 30643006, 31605509		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	32184430	Stimulate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28826934		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27190304		★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	32481372	Stimulate	★☆☆☆☆ Found in Text Mining only
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	16601865		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	20157249, 28735291, 29357793, 30504006, 8579098, 8866434		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	31330077, 33758187, 8579098	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia, familial Danish	Dementia	BEFREE	12146803, 14533778		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	14672279, 28223934		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	LHGDN	14672279		★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	27876501, 30601335		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30400830		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	27232630	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15715685, 18650481, 18940290, 19151417, 23136988, 26347889, 26592151, 27190348, 27218257, 28666182, 29090609, 29777230, 30033802, 31369621		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15715685, 18650481, 18940290, 19151417, 23136988, 26347889, 26592151, 27190348, 27218257, 28337877, 28666182, 29090609, 29331592, 29777230, 30033802, 30723243, 31096818, 31369621		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27809845, 32306911, 37002266	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37452735	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19151417, 29090609, 32306911, 37002266	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26347889, 28666182, 29357443		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17130480, 19151417, 26347889, 27339449, 28352324, 28666182, 28701152, 28922364, 29090609, 29331592, 29339356, 29432710, 29453992, 30398035, 30967435, 31227289, 31572465, 31636737		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33811534, 34964177, 36482996	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	12938144		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	26337659, 28147348, 28494191, 28513288, 28701152, 30227659, 31402864, 31473080, 31636737		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30398035		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	37002266	Stimulate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	30382554		★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	25213770	Stimulate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	28554490	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	30176349		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	31011584		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	31054924		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30497286, 31793519		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	35945262	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	26092112	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	21617716, 26617717, 28423738, 28435284		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	21617716, 28423738, 28435284		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26617717, 28423738	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	32481372	Stimulate	★☆☆☆☆ Found in Text Mining only
Extravasation of Diagnostic and Therapeutic Materials	Extravasation of diagnostic and therapeutic materials	Pubtator	34260518	Stimulate	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	11815350, 15479453		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	40420032	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	17192785, 18026100		★☆☆☆☆ Found in Text Mining only
Familial Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	CTD_human_DG	18566660		★☆☆☆☆ Found in Text Mining only
Familial Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	23273574		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	24088505	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	15037657		★☆☆☆☆ Found in Text Mining only
Fibrous Meningioma	Fibrous Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	30292090	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	19674067		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	38263244	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	LHGDN	18454664		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30994369		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12483523		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	12483523		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12483523		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12483523		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	28147348, 28206617, 30166111		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	15479453	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	12519404, 39617478	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	20926009		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	20926009	Stimulate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	29904402		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19808324, 27561768, 27881568, 28515118, 28735291, 28756070, 29482026, 29771963, 29896315, 30371283, 30427997, 30773798, 31339668		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	22117908, 27561768, 34774109, 35945262, 37798313	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure Systolic	Heart failure	Pubtator	22117908	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastic Meningioma	Hemangioblastic Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Hemangiopericytic Meningioma	Hemangiopericytic Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	22947524	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	20926009		★☆☆☆☆ Found in Text Mining only
Hepatorenal Syndrome	Hepatorenal Syndrome	BEFREE	28910501, 30601335		★☆☆☆☆ Found in Text Mining only
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type	Hereditary Cerebral Amyloid Angiopathy	BEFREE	10524281, 11299325, 16612983, 17963746, 23273574, 8361651, 9565605		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type	Hereditary Cerebral Amyloid Angiopathy	UNIPROT_DG	1352269, 2541223		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type	Hereditary Cerebral Amyloid Angiopathy	CTD_human_DG	18566660		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type	Hereditary Cerebral Amyloid Angiopathy	ORPHANET_DG	2541223		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type	Hereditary Cerebral Amyloid Angiopathy	GENOMICS_ENGLAND_DG	3495457, 7482672		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type	Hereditary Cerebral Amyloid Angiopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydronephrosis	Hydronephrosis	BEFREE	31801142		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18940290	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	27876431, 32481372, 32857720	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	14714581		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15715685, 23479071, 26717388, 27876431, 28034583, 28382567, 28914371, 30024915, 30033802, 30116366, 30232663, 30497286, 30967435		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	20926009, 30543877		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	20926009	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	28382567		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	27856930, 29392554		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16080536	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29518524		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30428849		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	31513306		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28320132, 28491896, 28865325, 30504006, 31719258		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	12787072		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	LHGDN	12787072		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	28652204	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	15028721, 8576118	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Intraorbital Meningioma	Intraorbital Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Intraventricular Meningioma	Intraventricular Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29778943, 31313057, 31488376, 31719258		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17082243, 19151417, 23677244, 27177318, 27582023, 28108166, 28187233, 28326825, 28474735, 28693441, 29198989, 29240709, 29412950, 29483105, 29486722, 29499889, 29883532, 29946947, 30069827, 30158836, 30267308, 30398035, 30704890, 31084924		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	LHGDN	18280806, 18703370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	20233980, 22978689, 25213770, 27010456, 31959411, 34260518, 34938273, 35945262, 36565177, 37586323	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	CTD_human_DG	22525860, 24863737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	28257169, 28693441, 29082894, 30610366		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	22005293, 28885000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	23673775, 27743042, 27862029, 28112204, 28142264, 28255805, 28258496, 28332367, 28372541, 28372557, 28535124, 28552392, 28573544, 28652590, 28685413, 28756070, 28759707, 28792535, 28941301, 28962501, 29312646, 29369449, 29445029, 29464581, 29508862, 29627485, 29632296, 29775220, 29784944, 29786454, 29870981, 29907141, 29944687, 30062791, 30179848, 30227813, 30445971, 30552306, 30581335, 30581500, 30639197, 30700793, 30713050, 30727972, 30736871, 30976980, 30997877, 31296157, 31313333, 31366007, 31591120, 31599006, 31601879, 31654803, 31662004		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	11592445, 27894952, 28417217, 28535187, 28648303, 29974312, 30035656, 31139603, 31185945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	20383146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lafora Disease	Lafora Disease	BEFREE	29249935		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	19808324, 23479071		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26716897	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16029452		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	8085435		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	20157249		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	26627638	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30005446, 31115549		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27435243, 27680763, 28545169, 28787218, 28910501, 29392554, 30601335, 30830657		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	22947524	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28206617, 28914371, 29482604, 29792017, 31801580		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29451067, 31801580		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	24606172		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	11815350, 15479453, 19917302, 25893795, 26865059, 32049341, 36899848	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Meningioma	Malignant Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15792117, 22898924, 26757339, 29088746, 30344712		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	21617716, 28423738, 28435284		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23629651		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29749360		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11008214, 12483523, 15037657, 19747051, 23629651, 27218257, 29209836, 29749360, 30257338, 30344712, 30416134, 30610366		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17728092, 18949742		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28630039, 29722001		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28630039	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33837649	Inhibit	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	27179439		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	15832773, 19747051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	LHGDN	15832773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	15832773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	CTD_human_DG	19747051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningiomas, Multiple	Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	27542858		★☆☆☆☆ Found in Text Mining only
Meningothelial meningioma	Meningothelial Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30400830		★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	29082894		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	26592151		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	21415918, 27218257	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27138369, 27218257, 28272253, 28914371, 29022500, 29024496, 30145854, 31317040		★☆☆☆☆ Found in Text Mining only
Microcystic meningioma	Microcystic Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	16213753, 18511756, 20555147, 20930303, 31307855, 31489777		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	27016404, 29249381, 30016754		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37522196	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16900522, 29917152		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	19602050, 35049167	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	21496199		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	22664813, 27353608	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24952865, 27441467, 28453865, 30068867		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	20889561		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	12787072	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	29331592		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12483523, 15138478, 16365041, 19747051, 21617716, 22898924, 26617717, 28482048, 29749360, 29789781, 30344712, 7665147		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	28206617, 29482604		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	31338588		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	BEFREE	30694385		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30694385		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	20849835, 31107181		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20800088		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20889561, 28569795, 29315460, 29664049, 30504006		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	29603501		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19360013, 20417681, 26592151, 30035656		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19360013	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21577020, 35945262	Associate	★☆☆☆☆ Found in Text Mining only
Olfactory Groove Meningioma	Olfactory Groove Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	12101112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral Submucous Fibrosis	CTD_human_DG	16311067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	28120569, 30820184		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	17728092		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28123560, 29200862, 29464358, 30775381		★☆☆☆☆ Found in Text Mining only
Papillary Meningioma	Papillary Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Paralysis	Paralysis	Pubtator	33758187	Associate	★☆☆☆☆ Found in Text Mining only
Parasagittal Meningioma	Parasagittal Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20849835, 28569795, 29664049, 31054924, 31828903		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26367713, 34528139	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	29574085		★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	25367815		★☆☆☆☆ Found in Text Mining only
Pelvic Inflammatory Disease	Pelvic inflammatory disease	Pubtator	18314113	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	18687758	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28923990, 28992939, 31215249		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31011584		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31011584		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	31215249		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	32170118	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	28346513		★☆☆☆☆ Found in Text Mining only
Porphyria Acute Hepatic	Porphyria	Pubtator	35876129	Associate	★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	27435243		★☆☆☆☆ Found in Text Mining only
Posterior Fossa Meningioma	Fossa Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	17192785, 18026100		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20157249, 28735291, 29357793, 30504006, 8579098		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	30994369		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	28493068, 29574085		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23629651		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	28812020		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17728092		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19956729	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23629651	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	28812020		★☆☆☆☆ Found in Text Mining only
Psammomatous Meningioma	Psammomatous Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	26962819		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	23900981	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	40640242	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29518524, 29724997		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28586363, 7665147		★☆☆☆☆ Found in Text Mining only
Renal cysts and diabetes syndrome	Renal cysts and diabetes syndrome	Pubtator	19151417	Associate	★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29653105		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	28187233, 31725919		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	21762013, 23136988, 27435243, 28298190, 28514315, 28545169, 28614196, 28681080, 28693441, 28778467, 28835187, 28914371, 28979697, 29082894, 29209836, 29482026, 29595358, 30145854, 30398035, 30571388, 30610366, 30775381, 30830657, 30949507, 31011584, 31216546		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	29786454		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29786454		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	29786454		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28337877		★☆☆☆☆ Found in Text Mining only
RETINOSCHISIS 1, X-LINKED, JUVENILE	Retinoschisis, X-Linked	BEFREE	31388973		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17552057, 30321524		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17552057		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28974776		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28974776, 37060872	Associate	★☆☆☆☆ Found in Text Mining only
Secretory meningioma	Secretory Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	8866434		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28332367, 28840836, 29921462		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	29777230		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	29946947, 30736871, 31473914		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	29664049		★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	29664049		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29103151		★☆☆☆☆ Found in Text Mining only
Sphenoid Wing Meningioma	Sphenoid Wing Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Spinal Meningioma	Spinal Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Sporadic Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	10636160		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	15138478	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15138478		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28298190, 29891036, 30639197, 30907012, 31369621		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	2541223, 27353608, 31330077, 33462484, 8579098	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	25367815		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	20849835		★☆☆☆☆ Found in Text Mining only
Transitional Meningioma	Transitional Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	31368437		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	30416134		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	19273215	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16131730		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	39617478	Stimulate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	15028721	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatous Meningioma	Xanthomatous Meningioma	CTD_human_DG	19747051		★☆☆☆☆ Found in Text Mining only