COX8A (cytochrome c oxidase subunit 8A)

Gene

• Entrez ID: 1351
• Gene name: Cytochrome c oxidase subunit 8A
• Gene symbol: COX8A
• Synonyms (NCBI Gene): COX, COX8, COX8-2, COX8L, MC4DN15, VIII, VIII-L
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869025575	G>C	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030182	hsa-miR-26b-5p	Microarray	19088304
MIRT042264	hsa-miR-484	CLASH	23622248
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905596	hsa-miR-3144-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905600	hsa-miR-4276	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905610	hsa-miR-4697-3p	CLIP-seq
MIRT905611	hsa-miR-4716-3p	CLIP-seq
MIRT905612	hsa-miR-624	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905600	hsa-miR-4276	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905610	hsa-miR-4697-3p	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905596	hsa-miR-3144-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905600	hsa-miR-4276	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905610	hsa-miR-4697-3p	CLIP-seq
MIRT905611	hsa-miR-4716-3p	CLIP-seq
MIRT905612	hsa-miR-624	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	TAS	2543673
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	2543673
GO:0006119	Process	Oxidative phosphorylation	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	NAS	30030519
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	30030519
GO:0045277	Component	Respiratory chain complex IV	IBA
GO:0045277	Component	Respiratory chain complex IV	IEA
GO:0045333	Process	Cellular respiration	NAS	30030519
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 123870
• HGNC: 2294
• e!Ensembl: ENSG00000176340

Protein

• UniProt ID: P10176
• Protein name: Cytochrome c oxidase subunit 8A, mitochondrial (Cytochrome c oxidase polypeptide VIII-liver/heart) (Cytochrome c oxidase subunit 8-2)
• Protein function: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu
• PDB: 5Z62, 8D4T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02285	COX8	26 → 68	Cytochrome oxidase c subunit VIII	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:26685157}.
• Sequence:

  MSVLTPLLLRGLTGSARRLPVPRAKIHSLPPEGKLGIMELAVGLTSCFVTFLLPAGWILS
  HLETYRRPE

• Sequence length: 69

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

TP53 Regulates Metabolic Genes
Respiratory electron transport

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
Mitochondrial complex IV deficiency, nuclear type 1	Pathogenic	rs869025575	RCV000208577	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COX8A-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex IV deficiency, nuclear type 15	Likely benign; Benign	ClinVar ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	22243966	Associate	★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	19943731, 19951055, 28162791, 28430338, 30197430, 30447465, 31129783		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	10739373, 11414631, 12032428, 12393556, 12520697, 15257714, 15735794, 16015408, 16244763, 18387172, 19560187, 23358198, 30842582, 9134384, 9531040, 9949170		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	6378277		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16521130, 2072137, 29334169		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12950015		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16609906, 27866983		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12950015, 15807932, 19307727		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	15807932, 19205707		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	1671851, 2897431		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16521130, 29334169		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19390242, 21841246, 28448944, 29016679	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	8577761	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18263603		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	10741908		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	10748015		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	10828629		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	9389715	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	6388012		★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	BEFREE	14717970, 18791166, 20352163, 24993948		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28122051, 29093073		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19390242, 30210691		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	19390242	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11122255	Associate	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	11442647, 11869940, 1550105		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15316498, 19390242, 30961940		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	19390242, 30961940	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12414516, 29792187		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15470710	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28122051, 29093073		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29161772		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31367504		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	31022467	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	19943731, 19951055, 21800959, 23776562, 31129783		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	22471974		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	15327529	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	7507641		★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	24065537		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	7507641		★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	7507641		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	29855563		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	20956946		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	10839543, 8326493, 8908511		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	10090934, 10090935, 10586887, 10779424, 1174709, 12010428, 12776156, 12884004, 1544315, 16879218, 18056485, 19710607, 20460353, 23566532, 24014073, 24717090, 24762281, 24994666, 25255241, 27906868, 28056528, 2847347, 28550758, 2903574, 29077262, 30328141, 30612605, 30758840, 30916034, 3100416, 3100417, 7728145, 816157, 9045860, 9607109		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36859289	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	6433619		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15810954, 16480277, 16498361, 18192694, 20878073, 23570558, 25339205, 26275572, 27881013, 27994517, 29620140, 31537812, 9409841		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39742384	Inhibit	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23360921	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28693228, 30128004, 9823297		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33089765	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28817811, 28927148, 30073577, 30222682, 31138322, 7706493		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	20051370		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23978451		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	27578326	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	1412410		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27334522, 28401801, 29890521		★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	29516413		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	19795413		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	28056109		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	21426319, 31793349		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31735164	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	12695749, 15678277, 19560187, 31315603		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11344234		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	11344234		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16521130, 29334169		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35841118	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	28043678		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29212234, 312998		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28611444, 30081388, 312998		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16083281		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17483440, 26893822		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15056097, 28716745, 29577605, 31152347		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coagulation factor deficiency syndrome	Coagulation Factor Deficiency Syndrome	BEFREE	21042672, 21492322, 22586181, 23852824, 9546392		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23852949	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10931458, 16091009, 17219437, 21885812, 8590774		★☆☆☆☆ Found in Text Mining only
Color Blindness, Red-Green	Color blindness	BEFREE	2589319		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12950015, 15075004, 15807932, 17219437, 17981262, 19307727, 20717114, 20815902, 26997150, 28923329, 30626261, 30944670		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32246818	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component 6 Deficiency	Complement Component Deficiency	BEFREE	6811172		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	31505085		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22243966	Associate	★☆☆☆☆ Found in Text Mining only
Congenital aplasia of inner ear	Congenital Aplasia Of Inner Ear	BEFREE	28251330		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	27035170		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	28883741, 8167182		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1w	Congenital Disorder Of Glycosylation	BEFREE	30701557		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation, type 2C	Congenital disorder of glycosylation	BEFREE	31278535		★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	BEFREE	22586181, 22764119		★☆☆☆☆ Found in Text Mining only
Congenital hypofibrinogenemia	Congenital afibrinogenemia	BEFREE	19936648		★☆☆☆☆ Found in Text Mining only
Congenital lactic acidosis	Congenital lactic acidosis	BEFREE	21266382		★☆☆☆☆ Found in Text Mining only
Congenital Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	1828422		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28043678		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	22739343, 2306575		★☆☆☆☆ Found in Text Mining only
Continuous Muscle Fiber Activity Hereditary	Hereditary continuous muscle fiber activity	Pubtator	34681740	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28692117, 31715371		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10760079, 15378115, 21848660, 29107010		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10760079, 15378115, 27995364, 28658301, 31798819		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10760079, 15378115		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	20614575		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	3717207		★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	25418474, 9634511	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	16288875, 18499082, 21266382, 26685157, 9402980		★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	GENOMICS_ENGLAND_DG	26685157		★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	ORPHANET_DG	26685157		★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	10886197, 20959603, 21159708, 22422337, 23080367, 26934731, 29266445, 31521516		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	623105		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	31096308		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28499915		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29127031		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	37658630	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28752370, 30123357		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37512131, 6171128	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37512131	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29373267, 31189519		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17888087		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	27058584, 31139194, 31157682		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29795634		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	15810954		★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia	Dysfibrinogenemia	BEFREE	21301788		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31145709		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	21594996, 2260589, 22739343, 7963684		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10468067, 11445843		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	22805469		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25785782, 26685157		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	11344234		★☆☆☆☆ Found in Text Mining only
Factor 8 deficiency, acquired	Factor VIII deficiency	BEFREE	28262242, 28441921, 29144625, 29381944, 29608457, 30027013, 30653138, 30864964, 30958453, 31448877, 31632887, 31700733		★☆☆☆☆ Found in Text Mining only
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF	Combined deficiency of factor V and factor VIII	BEFREE	10090934, 18056485, 20460353		★☆☆☆☆ Found in Text Mining only
Factor VIII Deficiency	Factor VIII Deficiency	BEFREE	10063999, 10090934, 10688827, 10779424, 19369668, 19432928, 851643		★☆☆☆☆ Found in Text Mining only
Factor X Deficiency	Factor X Deficiency	BEFREE	28388959		★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	BEFREE	31674066		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	7910398		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28611669		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	30097224, 9697871		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31552493		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	16303941		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	12695749		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	29070698		★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	22020132		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	20144242	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Varix	Gastric Varix	BEFREE	30959281		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	15942747		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30938185		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10741908, 24652192, 28718447, 30347301, 31690341		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11302336, 24352766	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11778649, 24652192, 28718447, 30347301, 31690341		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15465602, 28915652, 30761522		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21029244	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease, type IX	Glycogen Storage Disease	BEFREE	17027861		★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar Syndrome	BEFREE	28251330		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	12958288		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome, Familial	Guillain-Barre Syndrome	BEFREE	12958288		★☆☆☆☆ Found in Text Mining only
Harderoporphyria	Harderoporphyria	BEFREE	9454777		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20654727		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	9811342	Associate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	20868443		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	9786357		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30099724		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	22586181, 30210749		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	10400921, 8575815		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	10400921, 8575815		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	10022531, 10028303, 10063999, 10090934, 10192458, 10215942, 10357210, 1036844, 10408784, 10468616, 10469177, 10554831, 10586887, 10606882, 10612839, 10648392, 10688827, 10691849, 10744150, 10779424, 1078707, 10805278, 10864993, 10919409, 1103952, 11102988, 11122098, 11127864, 11136374, 11170992, 11246544, 11380631, 11396323, 11535168, 11547364, 11554929, 11564075, 11673057, 11748850, 11754115, 11786047, 11858487, 11858490, 11933222, 12010419, 12098090, 12242334, 12325022, 12367784, 12373312, 12379365, 12406075, 12428094, 12463593, 1250659, 12553533, 12614565, 12624630, 12624631, 12640562, 12640573, 12738670, 12763932, 12768323, 12781551, 12881300, 12904137, 1357455, 1367761, 14675091, 14750938, 15073030, 15230944, 15233948, 15257713, 15269826, 15269828, 15508114, 15710596, 15837921, 15860568, 16038719, 16088320, 16091456, 16128892, 16173970, 16372314, 1643024, 16507778, 16513526, 16551972, 16585022, 1662412, 1671991, 1676778, 16804830, 16805874, 16823491, 16879218, 16888433, 17181826, 17390380, 17550859, 17569821, 17610558, 17610560, 1768766, 17823971, 17848960, 18024377, 18034765, 18160577, 18363814, 18381091, 18384354, 18387975, 1840568, 18435924, 18449413, 18485084, 18503540, 18574023, 18702107, 1903760, 1904396, 1906179, 1908817, 19127250, 19150994, 19222367, 1923751, 19298384, 19369668, 19404535, 19432928, 19470695, 19509468, 19557401, 19583822, 19595998, 19713458, 19719548, 19740093, 19753526, 19758307, 1979502, 1981181, 19817879, 1982946, 20113902, 20132333, 20193250, 20331753, 20460344, 20491952, 20528906, 20557352, 20626616, 20700109, 20735723, 20864578, 20961391, 21042672, 2104741, 2104766, 2105106, 21057709, 2106024, 2106480, 21070487, 21083457, 21212008, 21217077, 2124499, 21245323, 2125022, 21251204, 2126393, 21264447, 21319868, 2159433, 21696518, 21751985, 21848690, 21883705, 21984752, 21992753, 22057311, 22072947, 22246033, 22270795, 22290460, 22411872, 22452823, 22498747, 22776136, 22906111, 22973456, 22996197, 23088352, 23109404, 23209578, 23223434, 23280990, 23372042, 23372167, 23467620, 23534532, 23696725, 23716558, 23765957, 23809114, 23913812, 23926300, 24014073, 24037092, 24057397, 24170290, 24253479, 24258360, 24354535, 24372689, 24452774, 24602271, 24668665, 24717090, 2473810, 24766411, 24916518, 2499363, 24994666, 2508796, 25126862, 25169114, 25255241, 25315236, 25550078, 25617427, 2564325, 25655313, 2567219, 25911555, 25948085, 26057490, 26063073, 26212079, 26297739, 26345748, 26783323, 26921444, 27094310, 27272962, 27328112, 27367203, 27496751, 27577042, 27730530, 27734034, 27749002, 27758819, 27824209, 27862687, 27928886, 27992112, 28056528, 28056565, 28079788, 28083796, 28111886, 28124406, 28173870, 28220685, 28252515, 2831458, 28326849, 28345288, 28374963, 28387451, 28411016, 28437834, 28440011, 2847347, 28507083, 28529666, 28532239, 28541681, 28550352, 28550758, 28599169, 28601434, 2861360, 28691218, 28691557, 28724345, 28731872, 28756381, 28799202, 28804835, 2882794, 28836262, 28851125, 28895852, 2889753, 28944952, 28978569, 2899053, 2900870, 29025906, 29039750, 29051801, 29051804, 29077262, 29149425, 29178312, 29181141, 29197156, 29212114, 29215814, 29224506, 29225598, 29257899, 29285874, 29305412, 29369801, 29388742, 29405496, 29447219, 29550477, 29554701, 29562772, 29594923, 29656466, 29674503, 29769259, 29845491, 2986011, 29866493, 29869648, 29878652, 2993888, 29981412, 29993342, 30002126, 30004617, 30013766, 30028549, 30036281, 30043332, 30045390, 30071878, 30093246, 3012474, 3013274, 30157389, 30160169, 3017981, 30181842, 30210749, 30216822, 30266735, 30278802, 30328141, 30350119, 3035554, 30399156, 30439768, 30515664, 30567269, 30604312, 30700417, 30722069, 30774319, 30783064, 30793713, 30817066, 30832256, 3087000, 30887655, 30922616, 30962210, 3097553, 30993836, 30999657, 31002742, 3100417, 31044485, 31050134, 31094906, 31115857, 31179744, 31193016, 31203578, 31267011, 31289204, 31329365, 31332444, 31353761, 31354248, 3137981, 3139545, 31435896, 31584736, 31609041, 31648354, 31669933, 31679381, 31688638, 31727959, 31753775, 31846611, 31850352, 410227, 519907, 623105, 6416054, 6417820, 6421151, 6426495, 6430067, 6433504, 6783148, 6791679, 6801807, 6803389, 6812614, 6818857, 7492334, 7504424, 7643361, 7728145, 7781755, 7795145, 7819115, 7862626, 7897307, 7907841, 7910050, 7937051, 7981669, 7984443, 7986726, 808076, 8091736, 8100465, 8307558, 8326493, 8412792, 843619, 846542, 8490618, 8494927, 8500791, 851643, 8573610, 8584995, 8590774, 8594555, 8619399, 8644728, 8747701, 8772209, 8836140, 8903002, 9016520, 9042915, 9071431, 9156121, 9157572, 9157573, 91786, 9192760, 9207400, 9326186, 937252, 9409841, 9427707, 9463799, 9569189, 9576953, 9594277, 9607109, 9607110, 9607112, 9609225, 9609226, 9840909, 9863056, 9873757, 9873794, 9886318, 9918768, 998619		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	2752145, 35123343, 3922454	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	36859289	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	1036844, 11380631, 12463593, 12781551, 16096011, 18550475, 1982946, 22992238, 24762274, 2508796, 25255241, 28895852, 28944952, 29314552, 30210749, 30357762, 30515664, 30924993, 30962210, 31421983, 31669933, 6786095		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	2752145, 3018248	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	10192458, 1036844, 10554831, 1078707, 10864993, 1103952, 11170992, 11547364, 11554929, 11880728, 12010419, 12242334, 12463593, 12624630, 12640562, 12640573, 15269826, 1674433, 18381091, 18449413, 1908817, 19369668, 19595998, 19713458, 19753526, 20113902, 20132333, 20557352, 20700109, 20864578, 21042672, 2106024, 21083457, 22072947, 22411872, 23372042, 24014073, 25315236, 26057490, 26783323, 27094310, 27730530, 27734034, 27928886, 28079788, 28083796, 28220685, 28374963, 28440011, 2847347, 28724345, 28731872, 28804835, 28851125, 29077262, 29212114, 29369801, 29447219, 29550477, 29845491, 29878652, 29993342, 30093246, 30181842, 30722069, 30783064, 30793713, 30962210, 30999657, 31002742, 3100417, 31094906, 31267011, 31329365, 31332444, 31669933, 31679381, 31688638, 31753775, 519907, 623105, 6417820, 6426495, 6433504, 6791679, 6801807, 6803389, 7504424, 7728145, 7781755, 7910050, 8091736, 8326493, 8500791, 8584995, 9156121, 9157573, 91786, 9569189, 9607109, 9840909, 9873794, 998619		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	23468366, 35123343	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic Disorders	BEFREE	30653138		★☆☆☆☆ Found in Text Mining only
Hereditary Factor XI Deficiency	Hereditary Factor XI Deficiency	BEFREE	28388959, 729252		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	BEFREE	29949203		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	BEFREE	30974269		★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	17204142	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	11702218, 14698652, 15056097, 15741801, 17510305, 18055997, 31145709		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20174619, 31145709, 31587572		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	28137735, 31521516		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	9697871		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	7910398		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29468666		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	8494927		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29733497		★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	BEFREE	8600777		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21218092		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29127031		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	37512131	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23087022		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	BEFREE	28720529		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	16644163, 17927806, 27318652, 31735164		★☆☆☆☆ Found in Text Mining only
Isolated cytochrome C oxidase deficiency	Isolated Cytochrome C Oxidase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10760079, 17142210		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	26277839		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29212234, 312998		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23231769		★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	20048104		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	12812953, 15269007, 8781533	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	21266382, 25164807, 31352295, 8781533, 9063742		★☆☆☆☆ Found in Text Mining only
Leigh syndrome French Canadian type	Leigh syndrome	Pubtator	10205264, 30995105	Associate	★☆☆☆☆ Found in Text Mining only
Leigh syndrome , French Canadian type	Leigh syndrome	BEFREE	15139850		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1900089, 2959356, 8968748		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	1900089		★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	BEFREE	7908679		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	30980769		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	29037125		★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	BEFREE	27038534		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18992912, 26961408, 27888359, 28320486, 28404963, 28416360, 28703354, 29204817, 29475614, 29514844, 29691085, 29991125, 30670911, 31011256, 31239763, 31505085		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15056097, 28716745, 29577605, 31152347		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29849801		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	30940853	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28756381, 30940853		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	16230147, 18160589, 20707729, 21561729, 27459142, 28401801, 28804828, 29162399, 30468572, 31195106		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27730530		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27730530		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27730530, 28296238, 31815811		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27730530		★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	BEFREE	29556652		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	23231769		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26612425, 31187468		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29855563		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28409559		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	20654727		★☆☆☆☆ Found in Text Mining only
Malignant hyperthermia susceptibility type 1	Malignant hyperthermia	Pubtator	21841246	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15810954, 16480277, 16498361, 18192694, 20878073, 23570558, 25339205, 26275572, 27881013, 27994517, 29620140, 31537812, 9409841		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	10468067, 11445843		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	29058818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20819067, 28817811, 28927148, 30073577, 30222682, 31138322, 7706493		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29037125		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23978451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12533667, 19431209, 20530583		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16024246, 17680641, 29765153		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of sigmoid colon	Sigmoid Cancer	BEFREE	8590774		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27614952, 29941993, 30386106, 30662635		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11448905, 16337272, 17691999, 19390242, 20392831, 20819067, 21478098, 23624019, 25842298, 26228058, 26566186, 27994517, 28703354, 28900840, 29247872, 30523664, 30844715, 31064095, 893545, 9241704		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	11344234		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16091009, 17219437, 20654727, 21885812, 8590774		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	27306448, 28083796		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	31737529		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25382380, 27105172		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	11850598, 24674659, 37221696	Associate	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	18990125, 22270878		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	19968670		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28499915		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29855563		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	23087022		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	10477264, 11850598, 9037024	Associate	★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	22270878		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	29572002		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31581608		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	24652680, 27494851		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	20819067		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	16154434		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	10205264, 11850598, 28521807, 37468577, 8577761	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22378285	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24277717, 24361111, 9063742, 9837813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	10205264, 19735676	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	22345218		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	31851916, 37468577	Associate	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	10216103		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	18263603		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	26919242	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10216103, 20192986, 26724804		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18286391		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	1525559, 1686773, 1998333, 2879931		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	1900089		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	1900089		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17804043, 27923154		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	21848660, 29107010, 31798819		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	24361111		★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	BEFREE	8600777		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	33354847, 8577761	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	22805469		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28816378, 29901162		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11029496, 11103813, 11313976, 11389060, 11485832, 11698337, 12231546, 12464651, 12533667, 15075004, 15190457, 15942747, 16361563, 16830360, 16928822, 18722548, 18803351, 19278989, 19431209, 19968670, 21610322, 21746895, 23592244, 23624019, 24000138, 24652192, 24950702, 27444836, 28012690, 28430338, 28441375, 28454409, 28881293, 29484455, 29492489, 29572002, 29792187, 30421509, 30897717, 31162584, 31277140, 31384175, 8757190, 9149016, 9872603, 9894772		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	30447465		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	2860491, 3132483		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	BEFREE	2860491, 3132483, 7714087		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	26783323		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	BEFREE	28720529		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	28430338, 28530253, 31582184		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11228100		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29855563		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	15190457, 25113746		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	31221630		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	28839178		★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	BEFREE	20070383, 22505363		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28234943, 29656466		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20400478, 28374895, 28986741, 30637589		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	29685879, 9366297		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	28056109		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20400894, 21797965, 28331932, 30722069		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	31396115		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	29729717, 29792187		★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	16685652	Associate	★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	10869362, 32305257, 34681740	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31524603		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	20484224	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	20454697		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29453810		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	39607761	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	19878741, 31171565		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type VII	Osteogenesis Imperfecta	BEFREE	19878741		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	12695749		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23978451		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19431209		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23360921, 26894380		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	12533667		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16671096, 20530583, 27133426, 27368132	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30661062		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29855563, 30036781		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	17078001		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	22739343, 30903320		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	21594996, 2260589, 22739343		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	20390230		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	29468666		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30964093		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	21539404		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	10650865, 21848660		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	2072137		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	11260073, 28719899		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	15389893		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16024246, 17680641, 29765153		★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	15056097		★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	BEFREE	15713144, 18685435, 28331932, 7545463, 7803790		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	24330353		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29468666		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	17483440	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26038391		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	26038391	Associate	★☆☆☆☆ Found in Text Mining only
Pyelonephritis	Pyelonephritis	BEFREE	12517852		★☆☆☆☆ Found in Text Mining only
RAPP-HODGKIN SYNDROME	RAPP-HODGKIN SYNDROME	BEFREE	31278535		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31715371		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28752370		★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	27545749		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	9918768		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10701683, 29550477		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27712141, 29855563, 30612342		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31022467	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	30694013		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	12517852, 30589495		★☆☆☆☆ Found in Text Mining only
Severe periodontitis	Periodontitis	BEFREE	21594996		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34006632	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	19968670		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 29	Spinocerebellar Ataxia	BEFREE	30429331		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19278989, 28109322		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19264847, 30643929		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30246311		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29656466		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	29324584		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27614952, 28625333, 29941993, 30079321, 30386106, 30662635		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23468366	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	19105233	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	19132238, 29240268		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	10886197, 12032428, 16015408, 16154434, 17669671, 18387172, 19131586, 19398413, 21304226, 27448294, 27459142, 28578446, 28716745, 28877324, 29201071, 29577605, 30093246, 31798819		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11722428, 19105233	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	BEFREE	29737426, 31521516		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	29949121		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29771422		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	1903760		★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	20425236		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	21848660		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30489199		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	30338785		★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	BEFREE	19371457		★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	22533697	Associate	★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	36232299	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	7910398		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	10688827, 1078707, 1080491, 1081404, 1083143, 1086597, 11038326, 11154224, 1250659, 15213842, 1566742, 16977571, 1732004, 18690339, 1918030, 19309248, 19506355, 19563498, 19951969, 21451397, 23238591, 2506947, 25953977, 28388959, 28691218, 29313798, 30036281, 30064913, 30273954, 30515664, 3085499, 3087000, 3100416, 3101732, 31085919, 311651, 31427262, 315519, 3937277, 6416288, 6430067, 6433504, 6774790, 6805535, 6972630, 7833254, 7986726, 9046981, 9690808		★☆☆☆☆ Found in Text Mining only
von Willebrand disease type 2M	Von Willebrand Disorder	BEFREE	16420565		★☆☆☆☆ Found in Text Mining only
Von Willebrand disease, platelet type	von Willebrand disorder	BEFREE	6416054		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 1	von Willebrand disorder	BEFREE	31834934, 6805535, 6972630, 8562925		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2	von Willebrand disorder	BEFREE	6426551		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2A	Von Willebrand Disorder	BEFREE	19951969		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2B	Von Willebrand Disorder	BEFREE	2117853, 24521271, 8376405		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2N	Von Willebrand Disorder	BEFREE	11110718, 22875612, 28581694, 8854570, 9684781, 9692396		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 3	von Willebrand disorder	BEFREE	16276467		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	29729717, 29792187		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	11578640		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	23324327		★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	BEFREE	1686773		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	24352161		★☆☆☆☆ Found in Text Mining only