BCHE (butyrylcholinesterase)

Gene

• Entrez ID: 590
• Gene name: Butyrylcholinesterase
• Gene symbol: BCHE
• Synonyms (NCBI Gene): BCHED, CHE1, CHE2, E1
• Chromosome: 3
• Chromosome location: 3q26.1
• Summary: This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799807	T>C	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs3732880	G>A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs28933389	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs28933390	C>A,G,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs104893684	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs114706984	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs115129687	C>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs115624085	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121918556	T>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918557	A>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121918558	T>A,C,G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs140080572	C>A	Likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs199660374	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201820739	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs398124632	A>CT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs527843566	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs568724445	C>A,T	Likely-pathogenic	Non coding transcript variant, stop gained, missense variant, intron variant, coding sequence variant
rs745364489	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs746209182	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs747196387	C>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs747983616	AG>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs750309713	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs751910853	A>G	Drug-response	Non coding transcript variant, initiator codon variant, intron variant, missense variant
rs754214624	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs760182781	G>A,C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained, intron variant
rs760485585	A>T	Conflicting-interpretations-of-pathogenicity	Stop gained, non coding transcript variant, coding sequence variant
rs762189020	C>-	Likely-pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs762341786	G>C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained, intron variant
rs772259613	TTTC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs778568717	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs779366544	T>C	Likely-pathogenic	Splice acceptor variant
rs990121358	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant, stop gained
rs1057516450	->A	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057516482	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516496	C>A,T	Likely-pathogenic	Splice donor variant
rs1057516707	C>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057516784	AA>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057517144	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517208	G>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057517218	C>A	Likely-pathogenic	Intron variant, splice donor variant
rs1057517221	C>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057517265	G>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057517288	G>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057517439	T>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1278095773	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1553778017	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs1553778044	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778114	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs1553778179	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778185	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778198	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778291	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018332	hsa-miR-335-5p	Microarray	18185580
MIRT029814	hsa-miR-26b-5p	Microarray	19088304
MIRT818001	hsa-miR-1275	CLIP-seq
MIRT818002	hsa-miR-1279	CLIP-seq
MIRT818003	hsa-miR-181a	CLIP-seq
MIRT818004	hsa-miR-181b	CLIP-seq
MIRT818005	hsa-miR-181c	CLIP-seq
MIRT818006	hsa-miR-181d	CLIP-seq
MIRT818007	hsa-miR-3146	CLIP-seq
MIRT818008	hsa-miR-3148	CLIP-seq
MIRT818009	hsa-miR-4260	CLIP-seq
MIRT818010	hsa-miR-4262	CLIP-seq
MIRT818011	hsa-miR-4665-5p	CLIP-seq
MIRT818012	hsa-miR-4668-5p	CLIP-seq
MIRT818013	hsa-miR-4775	CLIP-seq
MIRT818014	hsa-miR-489	CLIP-seq
MIRT818015	hsa-miR-548ae	CLIP-seq
MIRT818016	hsa-miR-548aj	CLIP-seq
MIRT818017	hsa-miR-548am	CLIP-seq
MIRT818018	hsa-miR-548x	CLIP-seq
MIRT818019	hsa-miR-590-3p	CLIP-seq
MIRT818020	hsa-miR-625	CLIP-seq
MIRT818013	hsa-miR-4775	CLIP-seq
MIRT818019	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	NAS	11569538
GO:0003824	Function	Catalytic activity	NAS	11569538
GO:0003990	Function	Acetylcholinesterase activity	IBA
GO:0003990	Function	Acetylcholinesterase activity	IEA
GO:0003990	Function	Acetylcholinesterase activity	ISS
GO:0004104	Function	Cholinesterase activity	IDA	19452557
GO:0004104	Function	Cholinesterase activity	IEA
GO:0004104	Function	Cholinesterase activity	TAS	2339692
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005641	Component	Nuclear envelope lumen	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006581	Process	Acetylcholine catabolic process	IBA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0007584	Process	Response to nutrient	IEA
GO:0007612	Process	Learning	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0014016	Process	Neuroblast differentiation	IEA
GO:0016486	Process	Peptide hormone processing	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	TAS
GO:0019695	Process	Choline metabolic process	IBA
GO:0019695	Process	Choline metabolic process	IEA
GO:0019899	Function	Enzyme binding	NAS	11569538
GO:0033265	Function	Choline binding	IEA
GO:0042802	Function	Identical protein binding	IPI	17660298, 20883446, 21059932, 22726956
GO:0043279	Process	Response to alkaloid	IEA
GO:0050783	Process	Cocaine metabolic process	TAS	8622553
GO:0050805	Process	Negative regulation of synaptic transmission	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051593	Process	Response to folic acid	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 177400
• HGNC: 983
• e!Ensembl: ENSG00000114200

Protein

• UniProt ID: P06276
• Protein name: Cholinesterase (EC 3.1.1.8) (Acylcholine acylhydrolase) (Butyrylcholine esterase) (Choline esterase II) (Pseudocholinesterase)
• Protein function: Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.
• PDB: 1P0I, 1P0M, 1P0P, 1P0Q, 1XLU, 1XLV, 1XLW, 2J4C, 2PM8, 2WID, 2WIF, 2WIG, 2WIJ, 2WIK, 2WIL, 2WSL, 2XMB, 2XMC, 2XMD, 2XMG, 2XQF, 2XQG, 2XQI, 2XQJ, 2XQK, 2Y1K, 3DJY, 3DKK, 3O9M, 4AQD, 4AXB, 4B0O, 4B0P, 4BBZ, 4BDS, 4TPK, 4XII, 5DYT, 5DYW, 5DYY, 5K5E, 5LKR, 5NN0, 6EMI, 6EP4, 6EQP, 6EQQ, 6ESJ, 6ESY, 6EYF, 6EZ2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00135	COesterase	30 → 550	Carboxylesterase family	Domain
  PF08674	AChE_tetra	565 → 601	Acetylcholinesterase tetramerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood plasma (at protein level). Present in most cells except erythrocytes. {ECO:0000269|PubMed:19368529, ECO:0000269|PubMed:19542320}.
• Sequence:

  MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIP
  YAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDC
  LYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKFLARVERVIVVSMNYRVGALG
  FLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPG
  SHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEI
  LLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVY
  GAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILFHYTDWVDDQRPENYREALGDV
  VGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLER
  RDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMT
  KLRAQQCRFWTSFFPKVLEMTGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCV
  GL

• Sequence length: 602

Pathways

Reactome:

Neurotransmitter clearance
Synthesis of PC
Synthesis, secretion, and deacylation of Ghrelin

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
BCHE, H variant	Likely pathogenic	rs527843566	RCV000014110	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BCHE-related disorder	Likely pathogenic; Pathogenic	rs530517316, rs781368801, rs745364489	RCV004756293 RCV003408171 RCV003420176	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type	Likely pathogenic; Pathogenic	rs121918557	RCV000014130	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of butyrylcholinesterase	Likely pathogenic; Pathogenic	rs767469658, rs2108235127, rs530517316, rs534912670, rs781368801, rs115129687, rs2473425708, rs759643427, rs759679732, rs398124632, rs121918557, rs121918558, rs104893684, rs2473426112, rs201820739, rs779366544, rs1057516496, rs1057517144, rs1057516482, rs1057517218, rs762341786, rs1057517288, rs1057517221, rs1057516450, rs754214624, rs1057517265, rs747196387, rs778568717, rs140080572, rs747983616, rs1057517208, rs772259613, rs1057516707, rs760182781, rs1057516784, rs1057517439, rs1553778017, rs1553778044, rs745364489, rs1553778179, rs568724445, rs1553778198, rs3732880, rs990121358, rs760485585, rs1278095773, rs1553778114, rs1553778185, rs762189020, rs1553778291, rs750309713	RCV001780677 RCV001780679 RCV001781075 RCV001781079 RCV002223054 RCV000490265 RCV003140925 RCV003141031 RCV003226803 RCV000014106 RCV000665725 RCV000014131 RCV000014132 RCV003479791 RCV000371428 RCV000412448 RCV000410863 RCV000411256 RCV000409949 RCV000410375 RCV000409122 RCV000411420 RCV000409809 RCV000410462 RCV000411348 RCV000412007 RCV000409335 RCV000410837 RCV000411278 RCV000410506 RCV000412077 RCV000409931 RCV000410237 RCV000409468 RCV000409316 RCV000412019 RCV000670753 RCV000664778 RCV000666275 RCV000670091 RCV000671697 RCV000674333 RCV000667827 RCV000668197 RCV000671148 RCV000667116 RCV000666287 RCV000664937 RCV000665059 RCV000666225 RCV001784360	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APNEA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BCHE, flouride 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BCHE, fluoride 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BCHE, J variant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase activity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUTYRYLCHOLINESTERASE DEFICIENCY	—	CTD, Disgenet, GenCC, HPO CTD, Disgenet, GenCC, HPO CTD, Disgenet, GenCC, HPO CTD, Disgenet, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY RESTENOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TONIC-CLONIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARALYSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARESIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, SECONDARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Postanesthetic apnea	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudocholinesterase deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA SYNDROMES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Suxamethonium response - slow metabolism	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONIC-CLONIC EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRISMUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	23022600		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17192624		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	7896186		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26879013		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30478965		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10699053, 11015454, 15834019, 17096857, 19199870, 19383604, 19384276, 19617863, 23419831, 25624079, 26293308, 27911294, 30914707, 9863603	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24359497	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	23022600		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	28278615, 9696068		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	10206226, 10482954, 10699053, 10830913, 29247294, 30914707, 31601022, 9682830, 9696068, 9836756		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	23022600		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	23022600		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	23022600		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30021372, 31301537		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	15802910, 19481150, 20060816, 25931333, 27737765, 27951490, 28729192, 29268129, 29332586, 31791679		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31053163		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	29777378		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26642910, 28451780, 28458069, 29350336, 31553920		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26642910, 28451780, 28458069, 29350336, 31553920		★☆☆☆☆ Found in Text Mining only
Apnea	Apnea	Pubtator	1349196, 1769657, 25054547, 29631548, 7069741, 7205429, 7435932	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asphyxia	Asphyxia	Pubtator	30593143	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerotic Parkinsonism	Atherosclerotic Parkinsonism	CTD_human_DG	30410011		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28274560		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	19617863	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28188819		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	24041656, 28188819		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	9836756		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31595719	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18555979	Associate	★☆☆☆☆ Found in Text Mining only
Bamforth syndrome	Bamforth-Lazarus syndrome	CTD_human_DG	16884476		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	4053343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	4053343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Brain ischemia	Pubtator	31564827	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12000217, 23063927, 27012205, 28643762		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20193849, 23063927	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase deficiency	Butyrylcholinesterase Deficiency	CLINVAR_DG	10404729, 10446378, 11163024, 11575530, 12417112, 12724618, 12881446, 13437188, 1415224, 15563885, 15731589, 15781196, 16434405, 17166756, 18075469, 18165570, 18300943, 20879632, 21029050, 21228368, 21637541, 22053728, 22378569, 2253336, 23123771, 25054547, 25448037, 25525159, 27109752, 27551784, 2915989, 7618741, 7634491, 8554068, 8680411, 9047329, 9058093, 9110359, 9191541, 9388484		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase deficiency	Butyrylcholinesterase Deficiency	UNIPROT_DG	10404729, 11928765, 12881446, 1306123, 1349196, 1415224, 15563885, 15781196, 1611188, 16788378, 17700357, 18075469, 18300943, 25054547, 25264279, 2915989, 7634491, 8554068, 8680411, 9110359, 9191541, 9388484, 9543549, 9694584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase deficiency	Butyrylcholinesterase Deficiency	CTD_human_DG	12881446, 16788378, 18075469, 25054547, 9110359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase deficiency	Butyrylcholinesterase Deficiency	BEFREE	17194517, 18056867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase deficiency	Butyrylcholinesterase Deficiency	ORPHANET_DG	25054547, 25448037		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase deficiency	Butyrylcholinesterase deficiency	Pubtator	25054547, 29631548, 39814397	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase deficiency	Butyrylcholinesterase deficiency	Pubtator	25054547, 29631548, 7760318	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase deficiency	Butyrylcholinesterase Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type	Butyrylcholinesterase Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinogenesis	Carcinogenesis	Pubtator	20193849	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10853020, 12847090, 9187134		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35236335	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20883446	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28350120		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21862451, 37708555	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25589728		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	30522902		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	9836756		★☆☆☆☆ Found in Text Mining only
Cerebral Hypoxia-Ischemia	Cerebral Hypoxia-Ischemia	BEFREE	27885575		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20464061		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	25589728		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30737542		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30737542		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22120020		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28507582, 29234928, 30372705, 30997486		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11781614, 29906588		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	18597747, 20971807, 8667461		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	12003252, 20513442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	BEFREE	15654502, 15802910, 30118774, 30204076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	15834019, 19617863, 28603409	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognitive Dysfunction	Cognition disorder	Pubtator	19617863, 28603409	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12847090		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16909200, 30711999		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16909200		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16909200	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	18597747, 20971807, 8667461		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	29768882		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	23404334		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	12074828, 12387587, 17852836, 19685167, 21473860, 27923158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	12074828, 12387587, 16298355, 17852836, 19685167, 21473860, 27923158		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	12074828, 17852836		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	12074828, 12387587, 17852836, 19685167, 21473860, 27923158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Restenosis	Coronary restenosis	Pubtator	26497592	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticobasal degeneration	Corticobasal Degeneration	BEFREE	28453492		★☆☆☆☆ Found in Text Mining only
Cryptogenic Tonic-Clonic Epilepsy	Cryptogenic Tonic-Clonic Epilepsy	CTD_human_DG	15121994		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	30513520		★☆☆☆☆ Found in Text Mining only
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	25805165		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	21576115, 35802656	Associate	★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	29952000, 30093245, 30431498, 30511428		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	29350336		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10206226, 12668920, 15802910, 15853480, 16083515, 18640242, 26757188, 27302127, 27825402, 28102474, 28103749, 28138912, 28222815, 28416036, 28453492, 28752503, 28840123, 29255847, 29393203, 29486820, 29850777, 30066795, 30204076, 30346974, 30372705, 30511428, 30633043, 30771226, 30807982, 30907450, 30924818, 31173395, 31178327, 31190251, 31309528, 31476707, 31596509, 31842821, 9302273		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	15219807, 31201687		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	24417530, 29472646, 30037778, 31202795		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	24417530	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17096857, 17852836, 19685167, 21862451, 28655740, 30081342, 30121555, 31442505		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12387587, 17096857, 17275003, 17852836, 19685167, 20414550, 21862451, 28655740, 29579961, 30081342, 30121555, 31442505		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	16429499		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17096857	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	16150144, 17096857, 20807286	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11793025, 15258737, 16150144, 17096857, 17852836, 20807286, 29365333, 30622011, 31121457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	28376867		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	139357, 159860, 29486820		★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	30706652		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30392460		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35915658	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30668376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Tonic-Clonic, Familial	Epilepsy	CTD_human_DG	15121994		★☆☆☆☆ Found in Text Mining only
Epilepsy, Tonic-Clonic, Symptomatic	Epilepsy	CTD_human_DG	15121994		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	18597747, 20971807, 8667461		★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	BEFREE	28743491, 29043000		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	23022600		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29906588, 30392460		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	20058037, 25059437, 28103749		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	18597747, 20971807, 8667461		★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	6314838		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	6314838	Associate	★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	6314838		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	2317787		★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27798943, 30924818		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	2317787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	2317787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	2317787		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	2317787		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	30025106	Stimulate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	11781614		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	30392460		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	32532356	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	32532356	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	22331678, 32532356	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	22919248	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	36551217	Associate	★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	25805165		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	139958		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	21163235		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	24001779	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28121480, 31482050		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	19359103		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28529331		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	15219807		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	8507926	Associate	★☆☆☆☆ Found in Text Mining only
Hypersomnia with Periodic Respiration	Hypersomnia With Periodic Respiration	CTD_human_DG	18555211		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12387587, 26643357, 28359849		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	23000450, 24001779	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	31586958		★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	BEFREE	31586958		★☆☆☆☆ Found in Text Mining only
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate	Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate	CTD_human_DG	16884476		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30997486		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	30997486	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	12668920, 15585443, 15654502, 15802910, 15834019, 15853480, 17691220, 19359103, 19481150, 19617863, 26757188, 28089695, 28535697, 28544619, 28783948, 29867734, 30037778, 30050286, 30118774, 30204076, 30227331, 30386819, 30783428, 31309528, 31442505, 31499090		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17096857	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	159860		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29631548	Associate	★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	18597747, 20971807, 8667461		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30429582		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	20883446		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	20883446	Associate	★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	31201687		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	5070165	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	528104		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12000217, 2394839, 2734315, 7999987		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2734315	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	8637218		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	8637218		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	31053163		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	15802910, 15853480, 16935943, 18751929, 26757188, 28103749, 28236784, 28504037, 29393203, 29510692, 30680679, 30783428, 31527695, 31571887		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28197686, 28249358		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11781614, 29906588, 30392460		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	1611188	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	33180817	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	23028565	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	31294523		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	28274560, 31628693		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28837649	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	1374519		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1374519, 24399815, 30025818		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	16190146		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	31053163		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29561824, 29579961		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12000217, 23063927, 27012205, 28643762		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29371671		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	2394839, 28350120		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29777378		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29966864, 30446461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31555950		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20193849, 24417530, 27012205, 29232376, 30737542		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30737542		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29600410, 30128921, 30737542, 31161211, 726855		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20193849		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	23063927		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	24417530, 29472646, 30037778, 31202795		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	139357		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	159860		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	16150144, 18541229, 20807286, 21493754	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15843232, 16150144, 16574762, 20414550, 20797821, 20807286, 21493754, 29393817, 29780825		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	12668920, 18334913, 19617863, 22402324, 27911294, 28103749, 28603409, 29081417, 29254094, 30253809, 30633043, 30651152, 31424411, 31842821		★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	30729450		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	25835709	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27012205		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	20122907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	25835709, 27916909, 29358722	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	20122907		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	CTD_human_DG	22906800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	BEFREE	21397501, 22981737, 29277489, 29534488, 30025818, 30130259, 30924818, 31393614, 31586958, 31614352		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	19064877, 20458068, 22987706		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	8637218		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29509260		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	37708555	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10492640, 12000217, 20193849, 20708154, 2394839, 24449147, 27598949, 28375942, 29146692, 29177431, 30737542		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29169349, 30096489, 30924818, 31258059		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	2317787		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	7083614		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	2317787, 27984078, 28375942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	2317787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25835709, 31217489, 33137939	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15510242, 18751929, 19359103, 28576432, 28737687, 28861918, 28986116, 29438888, 29734888, 30289893, 31217489, 31536753, 31702488		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28576432		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	31053163		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	28328690		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31555950		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28741230		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	17852836		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18452903, 19416087, 21862451, 23000450, 24001779, 27300766, 28497838, 28655305, 28973869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	18452903, 23000450, 23073171, 27163854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	21862451, 23000450, 24001779, 26424297, 28658346, 31504106	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	30782115		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27012205		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28350120, 7896186		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29777378		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Paralysis	Paralysis	Pubtator	27025119	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	11015454, 21968025, 28103749, 28144826, 28458525, 28545383, 28741230, 28840123, 29392081, 29537978, 29561824, 29579961, 30410011, 30783428, 31365785, 31675664		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	11015454, 30410011, 33137089	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28840123		★☆☆☆☆ Found in Text Mining only
Parkinson Disease, Secondary Vascular	Parkinson Disease	CTD_human_DG	30410011		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28418778		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30022504		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28576432		★☆☆☆☆ Found in Text Mining only
Persian Gulf Syndrome	Persian Gulf Syndrome	BEFREE	9792201		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	28103749		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28991135		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	12668920, 15802910, 15853480, 16083515, 18640242, 27302127, 27825402, 28102474, 28103749, 28138912, 28222815, 28416036, 28752503, 28840123, 29255847, 29393203, 29486820, 29850777, 30066795, 30204076, 30346974, 30372705, 30511428, 30633043, 30771226, 30807982, 30907450, 30924818, 31173395, 31178327, 31190251, 31309528, 31476707, 31596509, 31842821, 9302273		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	23022600		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29966864, 30446461		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28035996	Associate	★☆☆☆☆ Found in Text Mining only
Pseudocholinesterase deficiency	Pseudocholinesterase Deficiency	CTD_human_DG	12881446, 16788378, 18075469, 25054547, 9110359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudocholinesterase deficiency	Pseudocholinesterase Deficiency	BEFREE	29630557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	28741230		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30997486, 38046983	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	8637218		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	8637218		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20883446		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	31175885		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25179377, 30506510		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15585443		★☆☆☆☆ Found in Text Mining only
Secondary Parkinson Disease	Parkinson disease	CTD_human_DG	30410011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senile Plaques	Senile Plaques	BEFREE	10830913, 16973370, 30052110		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28249358, 29853783, 30161257, 30804708, 30825787, 31035187		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	18597747, 20971807, 8667461		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	32380702	Inhibit	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	CTD_human_DG	18555211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Mixed Central and Obstructive	Sleep Apnea	CTD_human_DG	18555211		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28236784		★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	CTD_human_DG	18555211		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	20193849, 23063927		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25956553	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	9187134		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31555950		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	31053163		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	29962259		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	20464061	Associate	★☆☆☆☆ Found in Text Mining only
Subcortical Vascular Dementia	Subcortical Vascular Dementia	BEFREE	28458525		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	18597747, 20971807, 8667461		★☆☆☆☆ Found in Text Mining only
Tonic-Clonic Epilepsy	Tonic-Clonic Epilepsy	CTD_human_DG	15121994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trismus	Trismus	CTD_human_DG	7378868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37632832	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	29177431		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	18597747, 20971807, 8667461		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	16962996		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	16962996		★☆☆☆☆ Found in Text Mining only