ACHE (acetylcholinesterase (Yt blood group))

Gene

• Entrez ID: 43
• Gene name: Acetylcholinesterase (Yt blood group)
• Gene symbol: ACHE
• Synonyms (NCBI Gene): ACEE, ARACHE, N-ACHE, YT
• Chromosome: 7
• Chromosome location: 7q22.1
• Summary: Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood gro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438683	hsa-miR-212-3p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23974008
MIRT438683	hsa-miR-212-3p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23974008
MIRT762670	hsa-miR-186	CLIP-seq
MIRT762671	hsa-miR-193a-3p	CLIP-seq
MIRT762672	hsa-miR-193b	CLIP-seq
MIRT762673	hsa-miR-200b	CLIP-seq
MIRT762674	hsa-miR-200c	CLIP-seq
MIRT762675	hsa-miR-2355-5p	CLIP-seq
MIRT762676	hsa-miR-3119	CLIP-seq
MIRT762677	hsa-miR-3163	CLIP-seq
MIRT762678	hsa-miR-340	CLIP-seq
MIRT762679	hsa-miR-4286	CLIP-seq
MIRT762680	hsa-miR-429	CLIP-seq
MIRT762681	hsa-miR-4775	CLIP-seq
MIRT762682	hsa-miR-587	CLIP-seq
MIRT762683	hsa-miR-590-3p	CLIP-seq
MIRT762684	hsa-miR-892b	CLIP-seq
MIRT1924832	hsa-miR-1247	CLIP-seq
MIRT1924833	hsa-miR-3121-3p	CLIP-seq
MIRT1924834	hsa-miR-3156-3p	CLIP-seq
MIRT1924835	hsa-miR-3679-3p	CLIP-seq
MIRT1924836	hsa-miR-4301	CLIP-seq
MIRT1924837	hsa-miR-4324	CLIP-seq
MIRT1924838	hsa-miR-532-3p	CLIP-seq
MIRT2166042	hsa-miR-185	CLIP-seq
MIRT2166043	hsa-miR-214	CLIP-seq
MIRT762675	hsa-miR-2355-5p	CLIP-seq
MIRT2166044	hsa-miR-3619-5p	CLIP-seq
MIRT762679	hsa-miR-4286	CLIP-seq
MIRT2166045	hsa-miR-4306	CLIP-seq
MIRT1924837	hsa-miR-4324	CLIP-seq
MIRT2166046	hsa-miR-4428	CLIP-seq
MIRT2166047	hsa-miR-4434	CLIP-seq
MIRT2166048	hsa-miR-4476	CLIP-seq
MIRT2166049	hsa-miR-4516	CLIP-seq
MIRT2166050	hsa-miR-4533	CLIP-seq
MIRT2166051	hsa-miR-4644	CLIP-seq
MIRT2166052	hsa-miR-4743	CLIP-seq
MIRT2166053	hsa-miR-761	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	7559515
TFAP2A	Repression	7559515

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001507	Process	Acetylcholine catabolic process in synaptic cleft	NAS	1517212
GO:0001540	Function	Amyloid-beta binding	TAS	11283752
GO:0001919	Process	Regulation of receptor recycling	IEA
GO:0002076	Process	Osteoblast development	IEP	15454088
GO:0003990	Function	Acetylcholinesterase activity	IBA
GO:0003990	Function	Acetylcholinesterase activity	IDA	1517212
GO:0003990	Function	Acetylcholinesterase activity	IEA
GO:0003990	Function	Acetylcholinesterase activity	IMP	1517212
GO:0003990	Function	Acetylcholinesterase activity	TAS
GO:0004104	Function	Cholinesterase activity	IDA	1517212
GO:0004104	Function	Cholinesterase activity	IEA
GO:0005515	Function	Protein binding	IPI	10800960, 15526038, 18194455
GO:0005518	Function	Collagen binding	IDA	12524166
GO:0005576	Component	Extracellular region	IDA	1517212
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	11283752
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	16289501
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005794	Component	Golgi apparatus	IDA	15454088
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006581	Process	Acetylcholine catabolic process	IBA
GO:0006581	Process	Acetylcholine catabolic process	IDA	1517212
GO:0006581	Process	Acetylcholine catabolic process	IEA
GO:0006581	Process	Acetylcholine catabolic process	TAS
GO:0007155	Process	Cell adhesion	IDA	15454088
GO:0007399	Process	Nervous system development	TAS	11283752
GO:0007416	Process	Synapse assembly	TAS	11283752
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IDA	16262697
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IDA	1517212
GO:0016787	Function	Hydrolase activity	IEA
GO:0017171	Function	Serine hydrolase activity	IDA	3954986
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031623	Process	Receptor internalization	IEA
GO:0032223	Process	Negative regulation of synaptic transmission, cholinergic	IC	1517212
GO:0042166	Function	Acetylcholine binding	IDA	8349597
GO:0042166	Function	Acetylcholine binding	NAS	1517212
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	12524166
GO:0042982	Process	Amyloid precursor protein metabolic process	TAS	12769797
GO:0043083	Component	Synaptic cleft	IEA
GO:0043236	Function	Laminin binding	IDA	12524166
GO:0043236	Function	Laminin binding	IEA
GO:0045202	Component	Synapse	IDA	8460160
GO:0045202	Component	Synapse	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	14766237
GO:0050714	Process	Positive regulation of protein secretion	TAS	11283752
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IEA
GO:0098552	Component	Side of membrane	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	17038428

Other IDs

• MIM: 100740
• HGNC: 108
• e!Ensembl: ENSG00000087085

Protein

• UniProt ID: P22303
• Protein name: Acetylcholinesterase (AChE) (EC 3.1.1.7)
• Protein function: Hydrolyzes rapidly the acetylcholine neurotransmitter released into the synaptic cleft allowing to terminate the signal transduction at the neuromuscular junction. Role in neuronal apoptosis. {ECO:0000269|PubMed:11985878, ECO:0000269|PubMed:1517
• PDB: 1B41, 1F8U, 1VZJ, 2X8B, 3LII, 4BDT, 4EY4, 4EY5, 4EY6, 4EY7, 4EY8, 4M0E, 4M0F, 4PQE, 5FOQ, 5FPQ, 5HF5, 5HF6, 5HF8, 5HF9, 5HFA, 5HQ3, 6CQT, 6CQU, 6CQV, 6CQW, 6CQX, 6CQY, 6CQZ, 6F25, 6NEA, 6NTG, 6NTH, 6NTK, 6NTL, 6NTM, 6NTN, 6NTO, 6O4W, 6O4X, 6O50, 6O52, 6O5R, 6O5S, 6O5V, 6O66, 6O69, 6U34, 6U37, 6U3P, 6WUV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00135	COesterase	37 → 563	Carboxylesterase family	Domain
  PF08674	AChE_tetra	578 → 613	Acetylcholinesterase tetramerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform H is highly expressed in erythrocytes. {ECO:0000269|PubMed:2714437}.
• Sequence:

  MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVRGGRLRGIRLKTPGGPV
  SAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVCYQYVDTLYPGFEGTEMWNPN
  RELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDVYDGRFLVQAERTVLVSM
  NYRVGAFGFLALPGSREAPGNVGLLDQRLALQWVQENVAAFGGDPTSVTLFGESAGAASV
  GMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQLAHLVGCPPGGTGGNDTEL
  VACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVVDGDFLSDTPEALINAGDFHGLQVLVG
  VVKDEGSYFLVYGAPGFSKDNESLISRAEFLAGVRVGVPQVSDLAAEAVVLHYTDWLHPE
  DPARLREALSDVVGDHNVVCPVAQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGY
  EIEFIFGIPLDPSRNYTAEEKIFAQRLMRYWANFARTGDPNEPRDPKAPQWPPYTAGAQQ
  YVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATDTLDEAERQWKAEFHRWSSYMVHWKN
  QFDHYSKQDRCSDL

• Sequence length: 614

Pathways

KEGG:

Glycerophospholipid metabolism
Cholinergic synapse

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACHE-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YT BLOOD GROUP POLYMORPHISM	Benign	ClinVar	★★☆☆☆ 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	22944069, 23047022		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	8637218		★☆☆☆☆ Found in Text Mining only
Adult Learning Disorders	Learning Disorders	CTD_human_DG	18533140		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	8299725		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	18599028		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15009666, 17096857, 17653279, 18769671, 19384276, 20221449, 22351782, 24318838, 24359497, 26325402, 28005991, 34714861, 34831318, 36006974	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21691765, 24312390, 27258420, 30914707	Inhibit	★☆☆☆☆ Found in Text Mining only
ALZHEIMER DISEASE 2	Alzheimer disease	BEFREE	8618881		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	22944069, 23047022		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	10599773, 28868119		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	22944069, 23047022		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	28509077, 29562505		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	22944069, 23047022		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	22944069, 23047022		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	26592365, 28097466, 28272324, 28275781, 29370115, 29405440, 30289074, 31301537		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	21621296, 23931440, 28388521, 28501482, 28570763, 28632446, 28787712, 29407958, 29873262, 30031108, 30320383, 30717208, 30784941, 31644927, 31791679, 8608006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	CTD_human_DG	23047022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24455732		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CTD_human_DG	31170385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	BEFREE	28209096		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	15060281, 25744714		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	15060281	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	15060281, 25744714		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	29430663		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23377347, 29939342		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12466963		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31838722	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18555979	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31029750		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30144465		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	31788770		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29464986		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	29644616		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31009110		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	2405380		★☆☆☆☆ Found in Text Mining only
Bradyarrhythmia (disorder)	Bradyarrhythmia	BEFREE	29666099		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12466963		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	12466963		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12000217, 23063927, 28833991, 31302713		★☆☆☆☆ 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, 28077796	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	20193849	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25869328	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31009110		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20883446	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33221754	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31595611		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	23305304		★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	21440438		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	24038971		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20464061, 23305304, 28259857, 28963051, 29706487		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	8299725		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	31124973		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29406992, 30816118		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29234928		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	23028565		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	19941057, 27083141		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	1671469		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	20053170, 27887948, 28619513, 29132093, 29199383, 29587242, 30089885, 30564080, 31302713, 31419500, 31583530, 31736761		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18258603, 18612832		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31004929		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16909200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16909200	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex partial seizures	Seizure	CTD_human_DG	19941057, 27083141		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	BEFREE	29097212		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	2453115	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	9707574		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27852001, 31595611		★☆☆☆☆ 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	21473860		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21473860, 27923158, 31726885		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21473860		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	12038595		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	1380483		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	31299187		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	21576115	Inhibit	★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	27974719, 30431498		★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	31059278		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	12038595, 14512714, 16083515, 20092557, 25408210, 28074409, 28613396, 28678552, 28867709, 28916821, 29143759, 29159197, 29346523, 29406992, 29706487, 29732929, 29734182, 29751080, 29851022, 29974121, 30405413, 31331724, 31434784, 31476160, 31578769, 31679283, 31711264, 31810978		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	31823156	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	39608999	Inhibit	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	27544235, 29088998		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29174946, 29726758, 30638380, 31154274, 31202795		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29127031		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17096857, 28259689, 30081342, 30597223, 31299187, 31442505		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17096857, 28259689, 29579961, 30081342, 30213283, 30597223, 31299187, 31442505		★☆☆☆☆ 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	17096857	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28147885, 28387957, 31174010		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	31788770		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	30802512		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	27842706		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	31067549		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28225493		★☆☆☆☆ Found in Text Mining only
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)	Endplate acetylcholinesterase deficiency	BEFREE	17300939		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30126014, 30743172, 31212050, 31284100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	19941057, 27083141		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	31402621		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	31353610		★☆☆☆☆ Found in Text Mining only
Etat Marbre	Status marmoratus	CTD_human_DG	19628251		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	22944069, 23047022		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	28572006		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	BEFREE	29566057		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	20452812, 21647712		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28018854	Stimulate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	19941057, 27083141		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	19038345		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	31162030		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	31162030	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30743172		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15153340	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40651751	Inhibit	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	26592365		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25956553		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25956553	Associate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	29666099		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27852001, 31595611		★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	1688724, 9516159	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	15759143, 15902901, 18665368, 27755344, 28649946, 28727975, 29212517		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	7820679		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31465772		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28276776, 31156627		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	15219807, 27720901, 28192878		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30875426		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	26879755, 28713915, 9707574		★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Junctional epidermolysis bullosa	Pubtator	34859100	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29167228		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33402146	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	12059039, 20053170, 23257614, 27887948, 28025162, 28259689, 28441890, 28619513, 28678552, 28917975, 29089887, 29132093, 29195794, 29199383, 29406017, 29406992, 29417439, 29559907, 29587242, 29616790, 29684530, 29732929, 30075220, 30085899, 30089885, 30227331, 30564080, 30586550, 30875343, 30877730, 30953774, 31150404, 31177840, 31194017, 31302713, 31419500, 31583530, 31585870, 31587263, 31725927, 31736761		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	31402621		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	37027384	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	23598815		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29127031		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17096857	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30240124		★☆☆☆☆ Found in Text Mining only
Isaacs syndrome	Isaacs Syndrome	BEFREE	18647752		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29706487, 31578769		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	19941057, 27083141		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31302329		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31124973		★☆☆☆☆ 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	31331724		★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	22371845, 30050445		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26002584		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	18533140		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	18533140		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disturbance	Learning Disorders	CTD_human_DG	18533140		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	2394839, 2405380, 2734315, 29934911		★☆☆☆☆ 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
Lewy Body Disease	Lewy Body Disease	BEFREE	28911255, 31331724, 31511061		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25240585, 25869328, 26299326		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	23028565		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	23028565	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25869328		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	25869328	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16429485		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29623856		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1374519		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22511943, 29561824, 29579961		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25956553		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12000217, 23063927, 28833991, 31302713		★☆☆☆☆ 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	22177837, 26763734, 29371671		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	2394839, 2405380		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	20356562		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25220382		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	29644616		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31009110		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25240585, 28809439, 29318034, 29702602		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	23063927		★☆☆☆☆ 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
Manic	Manic Disorder	BEFREE	30535659		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	8299725		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12466963		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	40651751	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	18599028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory Disorders	BEFREE	28213109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory dysfunction	Memory Disorders	BEFREE	28823791, 31225769		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	29042964		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29174946, 29726758, 30638380, 31154274, 31202795		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30813607		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30878813		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28724799, 29491490		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	28018854	Inhibit	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28496430		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	27911294, 28208063, 31422337, 31810978		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	21647712		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CTD_human_DG	19628251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	17222519		★☆☆☆☆ Found in Text Mining only
Multiple pterygium syndrome	Multiple Pterygium Syndrome	BEFREE	24038971		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21691765, 27916909, 29358722	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29358722, 29406017		★☆☆☆☆ 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	10909423, 12554700, 16516310, 17272501, 18545673, 24425145, 27967267, 28985942, 29054956, 29321572, 29428956, 29534488, 29655452, 29718870, 31593530, 31614352, 31831253, 7836911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia gravis	Pubtator	18545673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis, Ocular	Myasthenia Gravis	BEFREE	29730659		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	BEFREE	21952943		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndrome	Myasthenic Syndrome	BEFREE	22371845, 30050445		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	19251977, 22759693, 25557462, 7814634	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	10025421, 11898587, 12508290, 1313543, 14592871, 15248101, 15367858, 16009904, 17452375, 18180250, 21952943, 22088788, 23089045, 24425145, 29405353, 29475025, 30767057, 30898524, 31831253, 7814634, 9758617		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	8637218		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21750701, 27852001		★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	26754003		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	3622573		★☆☆☆☆ Found in Text Mining only
Narcolepsy-Cataplexy Syndrome	Narcolepsy-Cataplexy Syndrome	BEFREE	20576035		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20193849, 2394839, 23974008, 2405380, 25220382, 25240585, 25869328, 26299326, 28076321, 28685687, 29847238, 29974106, 8299725, 8637218		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	BEFREE	28493390		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10890884, 27920150, 28527659, 29169349, 29303784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	22240983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	10869820, 11169626, 11985878, 28411556, 30171934, 30784883, 31655280		★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	31059278		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16516310, 22465999, 23257614, 27920150, 28125001, 28326544, 28685687, 29126727, 29430350, 29522770, 29532756, 29734888, 30289893, 30691196, 31100281, 31150404, 31447207, 31620424, 31726885		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16516310		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	31117372		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30088187		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23974008, 24158730		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30673880		★☆☆☆☆ Found in Text Mining only
Normocytic anemia	Anemia	BEFREE	31170385		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	29273807		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	29491490, 31284100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, Morbid	Obesity	BEFREE	29491490		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30537031		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16832351		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40651751	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15629887, 16819980, 23201480, 27901474, 28100726, 28458525, 29126727, 29337277, 29456161, 29561824, 29579961, 29670547, 30366679, 30607479, 31154274, 31174041, 31365785		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	15629887		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	3164041, 34659588, 36006974	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	16819980, 21647712		★☆☆☆☆ Found in Text Mining only
Persian Gulf Syndrome	Persian Gulf Syndrome	BEFREE	9792201		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	28713279		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	12038595, 16083515, 20092557, 25408210, 28074409, 28613396, 28678552, 28867709, 28916821, 29143759, 29159197, 29346523, 29406992, 29706487, 29732929, 29734182, 29751080, 29851022, 29974121, 30405413, 31331724, 31434784, 31476160, 31578769, 31679283, 31711264, 31810978		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	22944069, 23047022		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	28018854, 30842294		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	20356562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	30673880		★☆☆☆☆ Found in Text Mining only
Pyloric Atresia	Pyloric Atresia	BEFREE	10701857		★☆☆☆☆ 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	29968541, 31248646		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18482720		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	25498892		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30324844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	18647752		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	19038345, 30787102		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28849127, 29230271, 30190086, 30804708		★☆☆☆☆ Found in Text Mining only
Shared Paranoid Disorder	Shared Paranoid Disorder	BEFREE	29464495		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	19941057, 27083141		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	32380702	Inhibit	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	27842706		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	8299725		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	30061431		★☆☆☆☆ 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 the head and neck	Carcinoma Of The Head And Neck	BEFREE	25956553		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28329845, 30384261, 30790623		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25220382		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	20464061	Associate	★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	28941044		★☆☆☆☆ Found in Text Mining only
Subcortical Vascular Dementia	Subcortical Vascular Dementia	BEFREE	28458525		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	27335039		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	31512048		★☆☆☆☆ Found in Text Mining only
Thanatophoric Dysplasia	Thanatophoric Dysplasia	BEFREE	9858601		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	BEFREE	9858601		★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Thymus Hyperplasia	BEFREE	17272501		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	2485081		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	19941057, 27083141		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31643033		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	40651751	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	29377578		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	19941057, 27083141		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	LHGDN	14766237		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	16962996		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	35411132	Associate	★☆☆☆☆ 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
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME	Mental Retardation, X-Linked	BEFREE	30831371		★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	BEFREE	21440438		★☆☆☆☆ Found in Text Mining only