PTRH2 (peptidyl-tRNA hydrolase 2)

Gene

• Entrez ID: 51651
• Gene name: Peptidyl-tRNA hydrolase 2
• Gene symbol: PTRH2
• Synonyms (NCBI Gene): BIT1, CFAP37, CGI-147, IMNEPD, PTH, PTH 2, PTH2
• Chromosome: 17
• Chromosome location: 17q23.1
• Summary: The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to releas

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882234	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs762093483	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs786201017	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1268684924	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555609200	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028870	hsa-miR-26b-5p	Microarray	19088304
MIRT041641	hsa-miR-484	CLASH	23622248
MIRT041234	hsa-miR-193b-3p	CLASH	23622248
MIRT678297	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT678296	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT678295	hsa-miR-940	HITS-CLIP	23824327
MIRT678294	hsa-miR-3929	HITS-CLIP	23824327
MIRT678293	hsa-miR-4419b	HITS-CLIP	23824327
MIRT678292	hsa-miR-4478	HITS-CLIP	23824327
MIRT678291	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT678290	hsa-miR-3937	HITS-CLIP	23824327
MIRT678289	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT678288	hsa-miR-1827	HITS-CLIP	23824327
MIRT678287	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT678286	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT678285	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT678284	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT678283	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT678282	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT678281	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT678280	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT678279	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT678278	hsa-miR-7977	HITS-CLIP	23824327
MIRT678277	hsa-miR-1273e	HITS-CLIP	23824327
MIRT678276	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT678275	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT678274	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT678273	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT678272	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT678271	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT678270	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT678269	hsa-miR-3689c	HITS-CLIP	23824327
MIRT678268	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT678267	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT678266	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT678265	hsa-miR-3122	HITS-CLIP	23824327
MIRT678264	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT678263	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT678262	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT678261	hsa-miR-665	HITS-CLIP	23824327
MIRT678297	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT678296	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT678295	hsa-miR-940	HITS-CLIP	23824327
MIRT678294	hsa-miR-3929	HITS-CLIP	23824327
MIRT678293	hsa-miR-4419b	HITS-CLIP	23824327
MIRT678292	hsa-miR-4478	HITS-CLIP	23824327
MIRT678291	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT678290	hsa-miR-3937	HITS-CLIP	23824327
MIRT678289	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT678288	hsa-miR-1827	HITS-CLIP	23824327
MIRT678287	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT678286	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT678285	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT678284	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT678283	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT678282	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT678281	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT678280	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT678279	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT678278	hsa-miR-7977	HITS-CLIP	23824327
MIRT678277	hsa-miR-1273e	HITS-CLIP	23824327
MIRT678276	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT678275	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT678274	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT678273	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT678272	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT678271	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT678270	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT678269	hsa-miR-3689c	HITS-CLIP	23824327
MIRT678268	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT678267	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT678266	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT678265	hsa-miR-3122	HITS-CLIP	23824327
MIRT678264	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT678263	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT678262	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT678261	hsa-miR-665	HITS-CLIP	23824327
MIRT1276694	hsa-miR-3134	CLIP-seq
MIRT1276695	hsa-miR-3660	CLIP-seq
MIRT1276696	hsa-miR-4438	CLIP-seq
MIRT1276697	hsa-miR-4464	CLIP-seq
MIRT1276698	hsa-miR-4526	CLIP-seq
MIRT1276699	hsa-miR-4534	CLIP-seq
MIRT1276700	hsa-miR-4748	CLIP-seq
MIRT1276701	hsa-miR-4773	CLIP-seq
MIRT1276702	hsa-miR-4802-5p	CLIP-seq
MIRT739873	hsa-miR-513c	CLIP-seq
MIRT739874	hsa-miR-514b-5p	CLIP-seq
MIRT2081355	hsa-miR-1262	CLIP-seq
MIRT2081356	hsa-miR-3140-3p	CLIP-seq
MIRT2081357	hsa-miR-3185	CLIP-seq
MIRT2081358	hsa-miR-382	CLIP-seq
MIRT2081359	hsa-miR-4259	CLIP-seq
MIRT1276697	hsa-miR-4464	CLIP-seq
MIRT2081360	hsa-miR-4701-3p	CLIP-seq
MIRT1276700	hsa-miR-4748	CLIP-seq
MIRT739873	hsa-miR-513c	CLIP-seq
MIRT739874	hsa-miR-514b-5p	CLIP-seq
MIRT1276694	hsa-miR-3134	CLIP-seq
MIRT2081356	hsa-miR-3140-3p	CLIP-seq
MIRT1276695	hsa-miR-3660	CLIP-seq
MIRT1276696	hsa-miR-4438	CLIP-seq
MIRT1276698	hsa-miR-4526	CLIP-seq
MIRT1276699	hsa-miR-4534	CLIP-seq
MIRT1276702	hsa-miR-4802-5p	CLIP-seq
MIRT1276694	hsa-miR-3134	CLIP-seq
MIRT1276696	hsa-miR-4438	CLIP-seq
MIRT1276699	hsa-miR-4534	CLIP-seq
MIRT1276702	hsa-miR-4802-5p	CLIP-seq
MIRT1276694	hsa-miR-3134	CLIP-seq
MIRT1276696	hsa-miR-4438	CLIP-seq
MIRT1276699	hsa-miR-4534	CLIP-seq
MIRT1276702	hsa-miR-4802-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IBA
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IEA
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IMP	14660562
GO:0005515	Function	Protein binding	IPI	15006356, 21383007, 22952044, 28514442, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	15006356
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	22952044
GO:0005741	Component	Mitochondrial outer membrane	IDA	27184847
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IMP	15006356, 22952044
GO:0006915	Process	Apoptotic process	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	15006356
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:2000210	Process	Positive regulation of anoikis	IBA
GO:2000210	Process	Positive regulation of anoikis	IMP	15006356, 22952044
GO:2000811	Process	Negative regulation of anoikis	IBA
GO:2000811	Process	Negative regulation of anoikis	IMP	21383007

Other IDs

• MIM: 608625
• HGNC: 24265
• e!Ensembl: ENSG00000141378

Protein

• UniProt ID: Q9Y3E5
• Protein name: Peptidyl-tRNA hydrolase 2, mitochondrial (PTH 2) (EC 3.1.1.29) (Bcl-2 inhibitor of transcription 1)
• Protein function: Peptidyl-tRNA hydrolase which releases tRNAs from the ribosome during protein synthesis (PubMed:14660562). Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1. {ECO:0000269|PubMed:146
• PDB: 1Q7S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01981	PTH2	65 → 179	Peptidyl-tRNA hydrolase PTH2	Family

• Sequence:

  MPSKSLVMEYLAHPSTLGLAVGVACGMCLGWSLRVCFGMLPKSKTSKTHTDTESEASILG
  DSGEYKMILVVRNDLKMGKGKVAAQCSHAAVSAYKQIQRRNPEMLKQWEYCGQPKVVVKA
  PDEETLIALLAHAKMLGLTVSLIQDAGRTQIAPGSQTVLGIGPGPADLIDKVTGHLKLY

• Sequence length: 179

Pathways

Reactome:

Ub-specific processing proteases

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
Cerebellar ataxia	Pathogenic	rs730882234	RCV000162156	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs730882234	RCV000162156	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Pathogenic	rs730882234	RCV000162156	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	Pathogenic; Likely pathogenic	rs730882234, rs2033474535	RCV000162247 RCV001293457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Likely pathogenic; Pathogenic	rs777064652, rs730882234, rs1268684924	RCV001799762 RCV001799627 RCV001799712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTRH2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	17466614, 22634226, 29104492		★☆☆☆☆ Found in Text Mining only
Acrodysostosis	Acrodysostosis	BEFREE	22723333, 27908835		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	28407138		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	29128315		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	24961464		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30778006		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	28488526		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25003198		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	1455310, 14715818, 18682507, 22767050, 23660642, 27302092, 27611607, 27696726, 28506410, 29174770, 29360693, 29508264, 30123260, 30139819, 31699571, 8798358, 9329389, 9426434		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	6870447		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	180058, 29435763, 30654108		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	2544261, 29794791, 8099324, 8380405		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	24025564, 28602960		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CTD_human_DG	15354979, 19578808		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	27760419, 28416186, 29767854, 31776782		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	20443870, 32714069	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	29428552		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29995219		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	39519162	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	28593655		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29400142		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	35409134	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	23798203	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	23798203	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27495829, 28714271, 28864535, 29088221, 30605777, 31444033		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37849009, 37858254	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	28634697, 31751311		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25150870		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	37239392, 39766776	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17190908, 29088221	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27495829, 28714271, 28864535, 29088221, 30605777, 31444033		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29441748, 31303477		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	8653876		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31514566		★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	12733714, 14519094, 19063686, 22789683, 24297799, 25967373, 27334330		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	28948825		★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypocalcemia	Hypocalcemia	BEFREE	12733714, 14519094, 16608894, 17039419, 21135065, 23856264, 25506941, 25766501, 26818911, 27334330		★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypophosphatemic rickets	Hypophosphatemic Rickets	BEFREE	11409890, 28324013		★☆☆☆☆ Found in Text Mining only
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	BEFREE	20213538, 30827034		★☆☆☆☆ Found in Text Mining only
Barakat syndrome	Hypoparathyroidism-deafness-renal disease syndrome	BEFREE	25917456		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	30180151		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	12241879		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CTD_human_DG	24803734		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	30599794		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	1672845		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	2011400		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	30044347		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	27086085	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	11277262, 12438453, 22736772, 27927781, 28495797, 28643486, 28781957, 29050900, 29190607, 29192005, 29229501, 29423207, 29501417, 29556454, 29781225, 30109232, 30138402, 30290781, 30302919, 31240395, 31696357		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	11277262, 11315999, 27927781, 28152049	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	24849536, 28493902, 34440663	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	35140213	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	23186957	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	34440663	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Endocrine	Bone Disease	CTD_human_DG	18635661		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	27859596	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	28389324		★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	11204437	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	11092390, 39267114	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	11600516, 22723333, 30390819, 30581325, 30914275, 9600732		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11108243, 11996903, 12438453, 17804209, 21312071, 21886829, 22952044, 28878134, 29559791, 30261597, 30529760, 7556886, 7599071, 9390035		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22952044, 8491763, 9101366	Associate	★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	12410354		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	35409134	Associate	★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium Metabolism Disorders	BEFREE	31379460		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	28109821, 29338885		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25003198, 2541161, 3290897, 9492037		★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	15794681	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28488526	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30214507		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	12753279	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21682758, 27862247, 27865973, 27981393, 28341375, 28585333, 28726185, 28834128, 28840128, 29056965, 29434762, 29445837, 29478201, 29597237, 29599854, 29707916, 30627221, 30764690, 31008771, 31185930, 31310319, 31434350		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26880460	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	29088221	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	29088221		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	30445682		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	31886927	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	37239392	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	28145154, 28720522		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	28720522	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	31830923		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28042627, 28115793		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	17183364		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia blomstrand type	Chondrodysplasia	Pubtator	9649554	Associate	★☆☆☆☆ Found in Text Mining only
Chondrodysplasia, blomstrand type	Chondrodysplasia Punctata	BEFREE	10523019, 17164305		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	25365173		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	25365173	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome 2q37 deletion syndrome	2q37 Deletion Syndrome	BEFREE	30357083		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 2	Kidney Disease	BEFREE	31823044		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 3	Kidney Disease	BEFREE	26136118, 28838895, 30183664, 30575924		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10322647, 11012879, 12753279, 12848777, 15781990, 15887856, 21756942, 27790808, 28104108, 28243964, 28914984, 28990414, 29063504, 29193813, 29458003, 29707907, 29713798, 30041207, 30223287, 30691427, 30991406, 31668375, 31728605, 9740163		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	10322647, 12753279, 14730505, 14871409, 15781990, 15887856, 17565271, 17635819, 19770516, 20150940, 20303786, 21236342, 23611556, 23652554, 25883412, 27510531, 27582099, 27746210, 28094278, 28107527, 28183082, 28290186, 28318623, 28367447, 28414058, 28429545, 28429550, 28429558, 28445401, 28573386, 28585333, 28643486, 28741985, 28781957, 28838895, 28867373, 28914984, 28926112, 28964571, 28964572, 29044707, 29050900, 29128188, 29181658, 29189197, 29193813, 29423205, 29423206, 29434762, 29464358, 29467330, 29478201, 29491268, 29497805, 29507005, 29529595, 29547405, 29554879, 29581235, 29597237, 29655960, 29707916, 29779023, 29781225, 29783873, 29902198, 30067789, 30103389, 30109232, 30138402, 30183664, 30189026, 30223287, 30288267, 30302919, 30348535, 30396210, 30513912, 30535953, 30627584, 30656752, 30691427, 30692566, 30820015, 30862350, 30976408, 31069439, 31205198, 31238301, 31240395, 31293181, 31299384, 31313380, 31398464, 31474705, 31475182, 31619668, 31620773, 31631422, 31664706, 31667620, 31734146, 31804923, 31823044, 31832725		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	15781990		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30236113, 31811311		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	35818799	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15928800, 29943736		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	6315288		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27415614	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15951855, 28385776, 8768840		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21703311	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	23845990	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25124570, 30639585		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34887626	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	1672845, 17514620		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	12014387		★☆☆☆☆ Found in Text Mining only
Congenital hypoparathyroidism	Congenital hypoparathyroidism	BEFREE	29804071		★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	30973495		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	28175314		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	17162251		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27738907, 28230891, 28451454, 28954706, 28990414, 29084522, 29260292, 29359982, 29520133, 29599854, 30425104, 31760429		★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	30865228, 31698477		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	30482008, 30865228, 31698477		★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	12014387		★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL HEART MALFORMATIONS (disorder)	Conotruncal heart defect	BEFREE	8653876		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	32759398	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	27739473, 31310319		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17374704, 25533807, 27739473, 28642975, 28892641, 31310319		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	12207101		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27739473, 28882871, 31310319		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	11874419		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	28737140		★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	31177550		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11315999, 16257278, 28043938, 29039525, 29251375, 29357491, 31298308, 9167618, 9744821		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	32759398	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28768841		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	17190908	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	31770681		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27086558, 31423747		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	34667146	Inhibit	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29764626		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30674755	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22777106, 23485859, 27190348, 27450396, 28385153, 29190676, 31423747, 31715372		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10940742, 22777106, 23485859, 27190348, 27450396, 28341375, 28385153, 29134617, 29190676, 31423747, 31482253, 31715372, 9833939		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37239392	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21604269, 31301073, 31823791		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	1587533, 22349862, 27862247, 28475987, 28808745, 28840128, 28985731, 29144812, 29190676, 29658832, 31548248, 31848464, 9740163		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21732369, 22777106, 29386413		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	17142213		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31167584		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	18344713	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27495829		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	11450852, 22723333, 23425300, 30390819, 30581325, 8579896, 8703170, 8823526, 9039954		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	BEFREE	10963138		★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	30134801		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	1063406, 11955450, 15217342, 15284851, 15858577, 16618797, 16982422, 18762582, 19348700, 19854944, 20206336, 22511880, 22831640, 23911319, 24234437, 24253303, 24870542, 26822784, 28135719, 29100083, 8375651, 9147638, 9671304		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	21642377	Stimulate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	27846313	Associate	★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	29293548		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29764626		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	10963138		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	29943736		★☆☆☆☆ Found in Text Mining only
Endocrine Gland Neoplasms	Endocrine Gland Neoplasms	BEFREE	25722013		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	22300135, 28914984, 29330338, 30289185, 30979723, 31207657		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36798668	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23849849, 29197669, 31756600		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	25783848		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23955799, 28488526	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	30865228		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	BEFREE	28250248		★☆☆☆☆ Found in Text Mining only
Familial benign hypercalcemia	Hypocalciuric hypercalcemia	BEFREE	12519831, 14602739, 1710622, 18787045, 19423559, 19562279, 1997510, 2028833, 233692, 23856264, 2889790, 31391146, 31797261, 3450451, 6244324, 6253580, 6478633, 6699136, 8445032, 8813042		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	1184724, 19808223, 24246249, 2753981, 28914984, 31801907, 8823528		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	180058, 27922245, 36795755	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	19952464	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	BEFREE	7903311		★☆☆☆☆ Found in Text Mining only
Familial isolated hypoparathyroidism due to impaired PTH secretion	Hypoparathyroidism	Orphanet			★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	31619748	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	36973348	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	30180151		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	11092390, 12970263, 16099856, 17405843, 18182455, 21274302, 21274345, 22300135, 28648505, 28711660		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	30558554, 31305454		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	31305454	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32897363	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11086825		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30581325		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLYCOGEN STORAGE DISEASE Ic	Glycogen Storage Disease	BEFREE	4038714		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VI	Glycogen Storage Disease	BEFREE	26650250		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	28121960		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	34022862	Stimulate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	39267114	Associate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	31807302		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	28948825		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	23585664	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	12570952	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	17162251		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	25468653	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27738907, 28230891, 28451454, 28954706, 28990414, 29084522, 29260292, 29359982, 29599854, 30425104, 31760429		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	17162251		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	25711313		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	35409134	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31841590		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	10211896	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	14871409, 17190908, 19890272	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	33884041	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	10211896		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12046039, 15083922, 28990414, 29301445, 30183664, 31210004		★☆☆☆☆ Found in Text Mining only
Humoral hypercalcemia of malignancy (disorder)	Humoral Hypercalcemia Of Malignancy	BEFREE	10912527, 12438453, 14586791, 15200153, 1525053, 15331405, 16263810, 16956653, 1935171, 20605729, 2249778, 2288637, 2318820, 2331805, 2454953, 2544261, 2693318, 2777759, 2829195, 28331027, 28371408, 28843052, 29278884, 31476292, 31826272, 31841590, 7495499, 7690760, 7692947, 7768974, 8179578, 9362423, 9390035		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	12046039, 15083922, 28990414, 29301445, 30183664, 31210004		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	24191286	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	30865228		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	10395246, 10468915, 10487664, 11033758, 11033842, 11454510, 11522087, 11587555, 12412774, 12469911, 12519831, 12703546, 1315263, 14602739, 14616876, 15292296, 15579740, 15588433, 15606372, 16077176, 16183034, 16649980, 17183364, 1742725, 17710231, 18574574, 18729310, 18996820, 19193909, 19423559, 19562279, 1997510, 21175100, 21414629, 21449769, 21566074, 21642377, 2167460, 21785908, 22291434, 22349862, 22736772, 2288637, 23001465, 233692, 23612447, 23616356, 24235083, 24384877, 24731012, 24754691, 25320261, 2541161, 2544261, 25446019, 2548521, 25959515, 25993639, 26650250, 26675490, 26729423, 2691879, 27194212, 27325797, 27394135, 27410178, 27418061, 27588937, 27613721, 27726929, 27745835, 27829503, 27866715, 28109821, 28157158, 28222409, 28277104, 28378123, 28515208, 2854715, 28678063, 28732535, 28843052, 28857066, 28885621, 28914984, 28923463, 28949121, 28992983, 29036000, 29076656, 29115694, 29134314, 29181374, 29384931, 29599408, 29659895, 29727008, 29735505, 29755405, 29788189, 29878129, 29951343, 29959532, 29995768, 30042914, 30055219, 30082316, 30123263, 30198369, 30243992, 30289185, 30290590, 30300686, 30407919, 30420089, 30423445, 30449543, 30449545, 30459009, 30477753, 30477754, 30539882, 30641526, 30656752, 30674496, 30694792, 30771863, 30800541, 30834899, 30963668, 30979723, 31019019, 31074404, 31088386, 31142320, 31167584, 31176307, 31305864, 31391146, 31423747, 31466957, 31606193, 31641565, 31641801, 31648774, 31666255, 31675257, 31729682, 31764770, 31797261, 31826272, 31841590, 3737302, 449657, 6087533, 6244324, 6284831, 6478633, 6699136, 7593409, 7684395, 7798277, 8052367, 8060769, 8099324, 8380405, 8445032, 8462259, 8579896, 8703170, 8748130, 8816783, 8823526, 8855805, 9101368, 9112382, 9217223, 9253359, 9447281, 9447837, 9709976, 9772906		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	CTD_human_DG	10638776, 12399635, 17164314, 4004906, 7891547, 9382671		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	15794681, 24849536, 25959515, 28324001, 29115694, 29788189, 32761341, 33094630, 33499837, 34721296, 36284286	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	18729310, 19661269, 35296318, 36798668	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia Infantile	Idiopathic infantile hypercalcemia	Pubtator	34125233	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	22387237	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalciuria Absorptive 2	Hypercalciuria	Pubtator	22387237	Associate	★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	22343335		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25448744, 28475987		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	11016797	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	31841747		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	21611962		★☆☆☆☆ Found in Text Mining only
Hypermagnesemia	Hypermagnesemia	BEFREE	29241212, 31292178		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	CTD_human_DG	25289773		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	10460513, 10478142, 10843188, 14696768, 14717945, 15009006, 15292296, 15606374, 16263810, 18044981, 19184636, 19389927, 19808223, 22349862, 23979948, 24468228, 25320261, 27547867, 27619822, 27756092, 27796535, 28367447, 28378123, 28421466, 28429550, 2867104, 28678063, 28730419, 28741985, 28823005, 29046115, 29127344, 29234569, 29417303, 29437827, 29508264, 29562766, 29581916, 29659895, 29724589, 29725779, 29794776, 30105919, 30123263, 30181648, 30302919, 30396209, 30411503, 30656752, 30691427, 30759249, 30916761, 30975497, 31305864, 31621051, 31668332, 3947916, 6106649, 6113439, 7491535, 7593409, 8467173, 8798358, 8849576, 9379113, 9736402		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	11703583, 12753259, 35902104	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	12854833, 21881376, 36173907, 4847251	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Neonatal Severe Primary	Hyperparathyroidism	Pubtator	25828954, 31778168, 9507199	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	12081237, 16491288, 21642377, 21698093, 26973719, 33472651, 34556169, 36173907, 37065752, 37807045	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	12469911, 17227961, 18492387, 21593105, 23418495, 24849536, 25319874, 25959515, 26068297, 26865585, 27745835, 27760455, 29108698, 32843465, 33094630, 35902104, 37103067, 37191193	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	11012879, 11703583, 15882268, 19839774, 23186957, 27468225, 27739473, 27927781, 33991027, 34058078, 35140213, 9844148	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	19890272, 20150940, 27846800, 27876426, 30927339, 35289573	Stimulate	★☆☆☆☆ Found in Text Mining only
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	BEFREE	12412774, 15579740, 19562279, 25828954, 9253359		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	10441653, 10468923, 10704427, 11014383, 11589681, 12412774, 12444900, 12469911, 14616876, 15026366, 15207766, 15588433, 15606372, 16356097, 17018660, 17227961, 17514620, 17656570, 18230835, 18682507, 18787045, 18996820, 19193909, 19250271, 1997510, 20175455, 2028833, 20833339, 21455204, 21521328, 21642377, 21698093, 22085136, 22185226, 23081733, 23093699, 233692, 23418495, 23547958, 23660642, 24595969, 24731012, 24969991, 25279501, 25959515, 26068297, 2703801, 27071708, 27194212, 27302092, 27515539, 27545973, 27601015, 27682354, 27712879, 27734082, 27745835, 27760455, 27847113, 27979480, 27989606, 28192245, 28277104, 28315908, 28318329, 28362510, 28388724, 28445401, 28476229, 28488734, 28506410, 28687737, 28808443, 28816531, 28834128, 28850730, 28864535, 28882718, 2889790, 28914984, 28923463, 28992983, 29049872, 29095277, 29124877, 29128188, 29130559, 29134314, 29209851, 29235733, 29317405, 29330338, 29357735, 29441335, 29446693, 29727008, 29982334, 29995768, 30037429, 30048169, 30105919, 30289185, 30289298, 30289299, 30357494, 30396209, 30399207, 30406488, 30410012, 30449543, 30459009, 30463775, 30475215, 30477754, 30479056, 30528454, 30622514, 30641527, 30720335, 30720353, 30759249, 30778006, 30796757, 30834899, 30847526, 30888479, 30905030, 30916761, 30916764, 30975497, 30979723, 31081903, 31255197, 31305864, 31311003, 31360183, 31511943, 31621051, 31635835, 31699571, 31773224, 31797261, 6244324, 6253580, 6699136, 6783229, 8060769, 8077382, 8445032, 8678959, 8798358, 8855805, 9661591, 9709976, 9772906, 9777749, 9854589		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	11012879, 11033758, 11380488, 11703583, 1184724, 12046039, 12167586, 12520524, 12911549, 15083922, 15864123, 19037254, 19194773, 19219003, 19770516, 19770518, 19890272, 20150940, 20303786, 20424473, 21164021, 22736772, 25180713, 25284246, 25294851, 25324357, 25556167, 27067446, 27116295, 27467536, 27600827, 27738907, 27739473, 27876426, 27914693, 27927781, 27988213, 28044233, 28073343, 28094278, 28183082, 28298326, 28348181, 28429545, 28445401, 28573386, 28619127, 28695313, 28730419, 28843775, 28846459, 28867373, 28921422, 28963816, 28964572, 28980761, 29038882, 29193813, 29235126, 29423205, 29439405, 29478201, 29534286, 29597237, 29606543, 29633272, 29763933, 29767854, 29806069, 29879701, 29912988, 29955908, 29992701, 30043092, 30223287, 30328270, 30342948, 30411503, 30423548, 30513912, 30627584, 30668264, 30706095, 30712039, 30737534, 30804890, 30859218, 30878213, 31008771, 31065919, 31069832, 31198545, 31273631, 31311533, 31370694, 31430042, 31475182, 31486206, 31520697, 31522253, 31542783, 31602011, 31675257, 31698477, 31758855, 31770758, 31807302, 9217223, 9844148		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	CTD_human_DG	21350317, 22118402, 22373954		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	BEFREE	19562279		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	11033761, 11238537, 11294659, 11836550, 12374764, 12749064, 14561710, 14671404, 15711092, 15728199, 17317779, 1740484, 17710231, 18712808, 19057839, 19188744, 19808223, 20427744, 20538864, 20807523, 21062889, 21274302, 21823526, 22031097, 22300135, 22378814, 24127307, 24384877, 25219572, 25403028, 26387561, 26479409, 27415614, 27467896, 27929669, 27995443, 28084650, 28094278, 28130860, 28194446, 28422826, 29047366, 29295646, 29417303, 29783873, 29993278, 30123263, 30189026, 30261328, 30390815, 30390817, 30390819, 30395692, 30641528, 30841470, 31292178, 31305454, 31696357, 31730449, 31823044, 8052367, 8698326, 9751745		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	CTD_human_DG	12399635		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	9893121	Associate	★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	LHGDN	18283239		★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	31667176		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20886000, 27927781	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24849536	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	1612792, 27865973, 28115793, 28864535, 28926360, 29176783, 29252600, 29596813, 30348535, 30406357, 30410012, 30806331, 30865228		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	1930854		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	27756092, 31641565		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	29116560, 31839746		★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	31466957		★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	11294659, 14561710, 30674755, 31705387, 33180333, 9751745	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	18344713, 19915295, 25403028, 26479409, 27334330, 31305454, 33247854, 34477200, 36795755	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	33677588, 35846276	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypocalcemia Autosomal Dominant with Bartter Syndrome	Hypocalcemia	Pubtator	31063613	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia	Hypocalciuric Hypercalcemia	BEFREE	1524075, 19250271, 19423460, 2028833, 7635467		★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia familial type 1	Hypocalciuric hypercalcemia	Pubtator	10811290	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia familial type 1	Hypocalciuric hypercalcemia	Pubtator	12469911, 16491288, 16882283, 25292184, 33094630, 36536367, 36638628	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	10811290, 11763315, 12412774, 12469911, 12519831, 14602739, 14696768, 1710622, 17473068, 18787045, 19250271, 19423559, 19467900, 19562279, 1997510, 21175100, 21785908, 23081733, 233692, 23764372, 23856264, 24517148, 25104082, 26963950, 31391146, 31797261, 6244324, 6284831, 6478633, 6699136, 6874959, 871127, 8813042, 9217223, 9253359		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	10478142, 12014387, 12619926, 12733714, 12843157, 14671404, 15740648, 15824853, 16983178, 17220063, 18490837, 18583467, 19057839, 19063686, 20538864, 21865375, 22722080, 23128574, 24297799, 25891861, 25993639, 26384470, 26780986, 27577725, 27734257, 27757772, 27866715, 27913036, 28244684, 28332412, 28362393, 2843457, 28444561, 28444664, 28822059, 28857066, 28898923, 28926829, 28942334, 29049872, 29099939, 29099947, 29344330, 29511787, 29594052, 29726397, 29794776, 29804071, 29878514, 29972871, 3005800, 30088838, 30093637, 3014148, 30197157, 30243992, 30350311, 30390810, 30390815, 30390821, 30407919, 30449546, 30470382, 30551988, 30604214, 30637454, 30641520, 30641528, 30641529, 31116878, 31207657, 31267306, 31291476, 31620890, 31720712, 31750351, 3223496, 6874959, 8478012, 8961678, 9066883		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	12619926, 18344713, 2212001, 29804071, 30137364, 3014148, 31433868, 35165722, 36054621	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	LHGDN	15472173		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	16983178, 18250541, 20119591, 20538864, 24042516, 31705387, 32627016	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism - autosomal dominant	Hypoparathyroidism	BEFREE	20463099, 24823460, 8813042		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	BEFREE	10523031, 15728199, 1740484, 2212001, 28938448, 3005800, 7829495, 9152631		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	UNIPROT_DG	10523031, 18056632, 2212001		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	GENOMICS_ENGLAND_DG	3005800		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	33827627	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	24246249, 2753981, 28914984, 31801907, 8823528		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets with Hypercalciuria Hereditary	Hypophosphatemic rickets	Pubtator	22387237	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	10460513, 180058, 19808223, 8964881		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	25403028, 27170606, 28648505		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	37239392	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	BEFREE	12970263, 16099856, 17405843, 18182455, 21274302, 21274345, 22300135, 28648505, 28711660		★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	29039525		★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	10800759, 6087533		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypoparathyroidism	Hypoparathyroidism	BEFREE	15472173, 25891861, 27813708, 29489687, 3014148, 8478012		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	31218132		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	8653876		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27415614, 28768841, 31621051, 31770681		★☆☆☆☆ Found in Text Mining only
Infantile multisystem neurologic-endocrine-pancreatic disease	Multisystem Neurologic, Endocrine And Pancreatic Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30581325		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	29442158, 29956812, 30038820		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	36501135	Associate	★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	28331027		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	25843330		★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal chondrodysplasia	Pubtator	27410178	Inhibit	★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	BEFREE	7701349, 8579896		★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal chondrodysplasia	Pubtator	8703170	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	17142213		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	15240651, 17062884, 21340156, 24235083, 24246249, 25279501, 27394135, 27819765, 28711370, 28857066, 29124877, 29569213, 29969593, 30109410, 30665547, 30665550, 31188746, 31236621, 31542783, 6143828		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10322647, 26214117, 27823902, 27863776, 28348181, 28573386, 28840128, 29423206, 29507005, 30976410, 31273631, 31807302		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18091430, 36226529, 37065752, 5276283	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	11544565, 12444900, 19113910, 21164021, 22166649, 25245883, 28368891, 29273178, 29929906, 30037429, 30183664, 30243992, 30826567, 31079351, 31791247, 3332571		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	11012879, 1972968, 34058078	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	18945829	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	10322647, 28706103, 29465577		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10322647, 10504487, 11012879, 12753279, 12848777, 15781990, 15887856, 18583400, 21756942, 27790808, 28104108, 28243964, 28704404, 28914984, 29063504, 29193813, 29458003, 29483398, 29707907, 29713798, 30041207, 30119977, 30691427, 30991406, 31668375, 31728605, 9740163		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	30973495		★☆☆☆☆ Found in Text Mining only
Lactose Intolerance, Adult Type	Lactose Intolerance	BEFREE	22233423		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	15472168		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	12601259, 28834128, 29977226, 30325973, 30806331, 31651370		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	17162251		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24162813		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	8099324, 8380405		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28419846		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	2200621		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29278884, 31243715		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15928800, 29943736		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27129381, 37239392	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31243715		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27655370	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	2885845, 29170133	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	23955799		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23955799, 27841128	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	29794791		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	180058, 28926829		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11108243, 11996903, 12438453, 16885353, 17804209, 21312071, 21886829, 22952044, 28878134, 29559791, 30261597, 30529760, 7556886, 7599071		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25003198, 2541161, 29170133, 9492037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	20035059, 28419846		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15257098		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14729578, 25970319, 26568368		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17199135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28894263		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25722013, 29100453, 29120026		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1319105, 16077176, 16263810, 1742725, 19578750, 20051478, 21886829, 23248118, 23748283, 27859596, 28525934, 28843052, 28878134, 29170133, 30529760, 30539882, 30551989, 31641565, 7684395, 8299880, 8748130, 8816783, 9738509		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15951855		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	17804209, 28174354, 28416186, 29935964		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	33884041	Stimulate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	3659909		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	16053382, 30865531		★☆☆☆☆ Found in Text Mining only
Medullary nephrocalcinosis	Medullary nephrocalcinosis	BEFREE	22806288		★☆☆☆☆ Found in Text Mining only
Melanoma, Amelanotic	Melanoma	BEFREE	11003603		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	26666357		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27086558, 31423747		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	17227961		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	12520524, 18996820, 29437827, 30665550		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28476229, 28901272, 29411069, 30411503, 6870447		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	35684100	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28177729, 28384340, 28864535, 29149839, 29348466, 30406357, 30975093		★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	BEFREE	10487664, 11021773, 31693237, 8703170, 9178745		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	Pubtator	35818799	Associate	★☆☆☆☆ Found in Text Mining only
Milk-Alkali Syndrome	Milk-Alkali Syndrome	CTD_human_DG	10638776, 12399635, 17164314, 4004906, 7891547, 9382671		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	1063406, 11955450, 15217342, 15284851, 15858577, 16618797, 16982422, 18762582, 19348700, 19854944, 20206336, 22511880, 22831640, 23911319, 24234437, 24253303, 24870542, 26822784, 28135719, 29100083, 8375651, 9147638, 9671304		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	16785360, 28251020, 6870447		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	10989951, 15026366, 16001330, 1639936, 19562279, 2723071, 7635467, 9681845		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29381784, 29556454		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28095044, 28887146		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	30134801		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28175314, 30716510		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	29794791	Associate	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	19389927		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	24162813		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	17162251		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25533807, 29763933, 30764690, 30994964		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28175314, 31177550		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	22349862, 30963668		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11846729, 11874419, 12408343, 12438453, 14715818, 1474331, 15831570, 15951855, 16077176, 16263810, 1684885, 17003089, 1997510, 21886829, 22291434, 23248118, 23955799, 2454953, 25003198, 25365173, 2541161, 2548521, 2550179, 2569472, 25970319, 26163537, 26333203, 2691879, 2693318, 27001435, 2723071, 27696726, 2777759, 2829195, 2854715, 2867104, 28878134, 29069783, 29170133, 29225207, 29497805, 30104706, 30123260, 30261597, 30373905, 30383698, 30641523, 30641526, 31088386, 31111352, 31535356, 31668332, 31727048, 7684395, 7692947, 7903311, 8179578, 8445032, 8626826, 8768840, 9112382, 9855464		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	2991119		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	15503623, 16391491, 19063686, 2167460, 23001465, 25050900, 28857066, 30109410, 30243992, 31514490		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	BEFREE	28139295		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	15240651, 17062884, 21340156, 24235083, 24246249, 25279501, 27394135, 27819765, 28711370, 28857066, 29124877, 29569213, 29969593, 30109410, 30665547, 30665550, 31188746, 31236621, 31542783, 6143828		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30092157		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	39766776	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	29079596	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32707690	Associate	★☆☆☆☆ Found in Text Mining only
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET	Multisystem Neurologic, Endocrine And Pancreatic Disease	GENOMICS_ENGLAND_DG	25558065, 27129381		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET	Multisystem Neurologic, Endocrine And Pancreatic Disease	UNIPROT_DG	25558065, 25574476		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET	Multisystem Neurologic, Endocrine And Pancreatic Disease	ORPHANET_DG	25574476		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET	Multisystem Neurologic, Endocrine And Pancreatic Disease	BEFREE	27129381		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET	Multisystem Neurologic, Endocrine And Pancreatic Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET	Multisystem Neurologic, Endocrine And Pancreatic Disease	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nevus comedonicus	Nevus comedonicus	BEFREE	31511943		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25003198, 29170133		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	29039525		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	11092390, 21508136, 25517289, 29693731	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25517289, 28124221, 28177726, 28257332, 28384340, 28730419, 29168114, 29235126, 29710852, 29764626, 29959430, 30082519, 30581325, 31164629, 31830529		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34013709	Stimulate	★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	12195069		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	14997007		★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	BEFREE	14730505, 2548521		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	11315999	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29357491		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	23392091		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	24731012		★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	32759398	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	BEFREE	180058, 29435763, 30654108		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	10523015, 14717945, 16355284, 17500070, 20808842, 21604269, 21787293, 26244796, 27704638, 27998642, 28273524, 28386879, 28935557, 29046115, 29104492, 29127344, 29190676, 29362267, 29442158, 29467330, 29470611, 29475373, 29482068, 29757436, 30189026, 30211230, 30399207, 30460589, 30639440, 30685820, 30716510, 31021851, 31112135, 31301073, 31475182, 31581477, 31825817, 8914043, 9833939		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	2683780		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	10024376, 11068867, 12014700, 12520524, 12893275, 15170564, 15292799, 15744035, 16884395, 18463811, 18799088, 19415543, 19679186, 21604269, 21607813, 22085136, 23300521, 23500550, 25783848, 26194148, 26244796, 26339419, 26598522, 26825660, 27468899, 27706266, 27756092, 27835763, 27905067, 27908723, 27930873, 28121926, 28124221, 28238166, 28298326, 28303448, 28325144, 28388910, 28389324, 28394900, 28424452, 28438150, 28495495, 28495797, 28521692, 28637206, 28721611, 28732226, 28758904, 28836858, 28850775, 28878134, 28898923, 28914969, 28982328, 29030560, 29038066, 29049872, 29064243, 29069147, 29115187, 29180199, 29190676, 29229501, 29239351, 29358318, 29392472, 29420158, 29470611, 29476877, 29498910, 29531334, 29548300, 29559791, 29671936, 29757436, 29926970, 29952553, 29956812, 29960821, 29973435, 30032480, 30060226, 30088838, 30157832, 30181433, 30231085, 30305826, 30343014, 30366683, 30400376, 30442659, 30449543, 30455434, 30461654, 30467731, 30477754, 30539271, 30576321, 30587048, 30641527, 30660035, 30689744, 30729318, 30834778, 30902975, 30958709, 31009612, 31038646, 31181662, 31278103, 31291372, 31309239, 31332508, 31409530, 31420700, 31504411, 9379113, 9556070		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	15710971, 17317460, 17882678, 19578808, 21306167, 30639440		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	15744035, 20425087, 26339419, 32080087, 33931080, 34977236, 35818799, 36553538, 40496565	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	19450716	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34440663, 36973348, 39949270	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	BEFREE	16790443		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	15710971, 17317460, 17882678, 19578808, 21306167, 30639440		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	18096456, 22312238, 28225309, 29091308, 29113980, 29365099, 30088838, 30461654, 30644138, 31309239		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	CTD_human_DG	20567999		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	BEFREE	10366042		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	15710971, 17317460, 17882678, 19578808, 21306167, 30639440		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10375199, 12782945, 15956342, 1651438, 1654784, 17410535, 18202147, 19679186, 20640570, 21834878, 25043296, 27859596, 29121993, 31536386, 9927325		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	20222016	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	21062889		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	16956653		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	28935272		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	14997007		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15257098		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	27129381		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	30778006		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	37239392	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	30778006		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12410354, 27609904, 31311533, 31620890, 31664535		★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic Syndromes	BEFREE	2829195		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	10048455, 10323401, 10704427, 10713061, 10718832, 11846729, 12444900, 1455310, 14699620, 15657585, 1682919, 17003089, 18682507, 2011400, 20641034, 20974637, 2199477, 23660642, 26068297, 2723071, 27696726, 28033216, 28683236, 29233774, 29235733, 29360693, 29508264, 29516131, 29951343, 29982334, 29995768, 30004132, 30123260, 30239472, 30289305, 30383698, 30702621, 30720353, 30834899, 31751311, 3216862, 3344017, 8077382, 8626826, 8798358, 9329389, 9661591, 9709976, 9934834		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	1744796, 19350316, 20051478, 21521290, 22538754, 22767050, 25511968, 27001435, 27744598, 28157158, 28362510, 28362521, 28525934, 2867104, 29047366, 29108698, 30198445, 30290620, 30300686, 30551989, 30567092, 30641523, 31185342, 31767140, 31826272, 9497883		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	11703583, 12444900, 12911549, 14730505, 15225829, 15781990, 17121534, 18826852, 20303786, 21164021, 21521328, 26163537, 28378123, 28429545, 28980761, 29047366, 29198075, 29618612, 30239472, 30832348, 31088386		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	10201002, 1483873, 1682919, 18492387, 20641034, 21521290, 26011350, 26865585, 2723071, 27760455, 30290620, 30567092, 32609827, 32833315, 35856247, 36284286, 36777354, 37065733, 37191193, 38509667	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	10718832, 1131005, 1455310, 14570746, 25319874, 2569472, 25722013, 27611607, 27760455, 28217943, 28914984, 29095277, 29225207, 29724878, 30300686, 30690792, 31119524, 7593409, 9661591		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	32967944	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31205938		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28152049, 29386308, 31185931		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	31164629		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28732226, 29249017, 29544500		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28328138		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28328138		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	30201326		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	6870447		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	BEFREE	18660671, 18775977, 24902942, 28130860, 28246304, 29435763, 31619748		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	30042914		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	15327388, 30665565	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	27733443, 30665565, 30665572, 31002123		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	21082232, 21637951, 22233423, 27122244, 27895088, 27933387		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	24423332, 30381479, 30470382		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	15710971, 17317460, 17882678, 19578808, 21306167, 30639440		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31430042		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28768841		★☆☆☆☆ Found in Text Mining only
Primary Hyperthyroidism	Hyperthyroidism	BEFREE	9426425		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	11836550		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	19389927		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14729578, 26568368		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17199135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Proteinuria	Pubtator	39378116	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	25997889	Stimulate	★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	26479409, 34477200	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	40490796	Inhibit	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	10698594, 10852457, 11095461, 11443172, 11546929, 11598374, 11600516, 11720871, 12119276, 12147228, 12619926, 12621129, 12970262, 14671404, 15579741, 15711092, 16789630, 17405843, 18372789, 18490837, 18663313, 19858129, 19863504, 20008020, 20075145, 20538864, 21062889, 21274345, 21351142, 21816789, 21823526, 219790, 22300135, 2298446, 23076042, 23281139, 23392091, 24878042, 24914079, 25005734, 25502941, 25802348, 25843330, 26488942, 27109785, 27338644, 28648114, 28648505, 29087612, 29125274, 29240265, 29280743, 29959430, 3001127, 30390814, 30390819, 30418563, 30589959, 30616679, 30641531, 31555217, 3223496, 3404168, 6870447, 8185370, 8444241, 8453149, 8636385, 8675577, 9138150, 9295077, 9723884		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	14561710, 18250541, 19858129, 20008020, 20061437, 20444925, 20508384, 21274302, 21274345, 21351142, 21713996, 22679513, 23087324, 24423294, 24438374, 25403028, 26479409, 27922245, 29693731, 31886927, 34477200, 35104666, 36465610, 38017366, 39267114, 9751745	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	24945424, 27922245, 28084650, 30060753, 32481259, 33180333, 33663571, 35666115, 39894498	Inhibit	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	25464124, 27425121, 37906994, 40251565, 6286295	Stimulate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	BEFREE	11238537, 22736772, 23144470, 23649963, 25710380, 26628282, 27170606, 27415614, 27859596, 29240265, 29417303, 29445425, 9100569		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	Pubtator	12619926, 27170606	Inhibit	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	Pubtator	27415614, 29417303, 29445425, 40490796	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	Pubtator	27859596, 33677588	Stimulate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1C	Pseudohypoparathyroidism	BEFREE	29280743, 30581325		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	10566660, 10698594, 10971097, 11029463, 11033761, 11095461, 11294659, 11450852, 11598374, 11600515, 11600516, 11720871, 11926205, 12119276, 12541184, 12619926, 12621129, 12624854, 12843141, 12970307, 14561710, 14671404, 15331575, 15711092, 15817905, 1621772, 16789630, 16828410, 17317779, 17405843, 17595244, 17803690, 17962410, 18182455, 18626245, 18663313, 19856255, 19863504, 20061437, 20965295, 21274302, 22300135, 22674477, 22679513, 23144470, 23412865, 24423294, 24945424, 25219572, 25464124, 25502941, 25710380, 25843330, 25997889, 26479409, 27338644, 28084650, 28323910, 28889026, 29280743, 30060753, 30357083, 30430658, 30581325, 30674755, 31041856, 31546270, 31555217, 31696922, 6090498, 8072545, 8557265, 8675577, 9506735, 9600732		★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	BEFREE	10698594, 10971097, 11029463, 11033761, 11067869, 12119276, 12843141, 12970307, 14561710, 15579741, 15629959, 17317779, 18617581, 20444925, 21062889, 2168431, 22378814, 22679513, 22736772, 23087324, 24438374, 25403028, 25710380, 25843330, 25891861, 25997889, 26479409, 27170606, 28084650, 2848415, 28711660, 28902630, 29417303, 7745008, 7883858, 8675577, 9751745		★☆☆☆☆ Found in Text Mining only
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	BEFREE	11095461, 11600516, 11720871, 12119276, 12541184, 19856255, 8185370, 8444241, 8636385, 9138150		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	16040407, 29436626	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29436626		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22556020	Associate	★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	BEFREE	18302508		★☆☆☆☆ Found in Text Mining only
Rachitic rosary	Rachitic rosary	BEFREE	30827034		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	3290897		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	3290897, 7690760		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28741985		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	11544565, 19113910, 20471507, 21164021, 27545973, 28368891, 29273178, 29437827, 29599408, 29851532, 30037429, 30243992, 3332571		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	21637127		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	16077176		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11443200, 12846052, 28634697, 29338885, 31557191		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	CTD_human_DG	10375030		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	18304585, 18398421, 21346722, 23026218, 23186954, 28145154, 29113459, 29149839, 29445220, 29940979, 30012355, 30654108, 30737534, 31654223		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	11033842		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	37552420	Associate	★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	BEFREE	28593655		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	28328138		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30133162, 30134544, 31791247		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	23392091		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	28894263		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30082519		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	2541161		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	25843330		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28488526		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23955799, 28488526, 29391892		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23625795		★☆☆☆☆ Found in Text Mining only
Squamous Cell Neoplasms	Neoplasm	BEFREE	1682919		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	30465456		★☆☆☆☆ Found in Text Mining only
Testotoxicosis	Testotoxicosis	BEFREE	8072545		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	9066883		★☆☆☆☆ Found in Text Mining only
Thanatophoric Dysplasia	Thanatophoric Dysplasia	BEFREE	22634226		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	BEFREE	22634226		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	8077382		★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	19952463, 27841128, 4847251	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25722013, 29100453, 29120026		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	27841128	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	11029463, 25464124, 27922245, 35846276	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	11092390, 12970263, 16099856, 17405843, 18182455, 21274302, 21274345, 22300135, 28648505, 28711660		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	24423294, 27415614	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	40490796	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25722013, 29100453, 29120026, 7738719		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	29146231		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	31074401		★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	30092793		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	1935171, 2249778, 2318820, 2777759, 6699136, 7495499, 7690760		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	27609904		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	BEFREE	3379139		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	36798668	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	12050253		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	10633457, 14871409, 17565271, 27138227, 29291826, 29372301		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	CTD_human_DG	2051637		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	Pubtator	39799338	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Overactive	Overactive bladder	Pubtator	25604159	Associate	★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	25959515, 28816531, 30632117, 31542783, 9934834		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	Pubtator	25959515	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	10426571		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	18945829, 35172689	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	39799338	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	23585664	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	12854833, 16762954, 18304585, 18398421, 21346722, 23026218, 23186954, 24517148, 25695075, 25883412, 26339419, 26800885, 26824280, 27086558, 27914693, 28130180, 28323910, 28378123, 28429558, 28475987, 28680352, 28838895, 28926360, 28948825, 28954706, 29044707, 29100453, 29113459, 29149839, 29317405, 29437827, 29445220, 29562938, 29599854, 29940979, 30012355, 30169726, 30180151, 30302919, 30305067, 30379301, 30465456, 30595565, 30634857, 30668264, 30697626, 30723655, 30737534, 30914275, 30916764, 31273631, 31303477, 31370694, 31484162		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	23877860	Stimulate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	25695075, 26339419	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D-dependent rickets, type 1	Vitamin D-Dependent Rickets	BEFREE	25284246, 27353739		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	10460513, 1184724, 180058, 19808223, 2753981, 2994910, 4038714, 8964881		★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	30599794		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	30030744	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	27468899		★☆☆☆☆ Found in Text Mining only