GH1 (growth hormone 1)

Gene

• Entrez ID: 2688
• Gene name: Growth hormone 1
• Gene symbol: GH1
• Synonyms (NCBI Gene): GH, GH-N, GHB5, GHN, IGHD1A, IGHD1B, IGHD2, hGH-N
• Chromosome: 17
• Chromosome location: 17q23.3
• Summary: The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111957225	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs137853219	C>T	Pathogenic	Coding sequence variant, stop gained
rs140576665	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1018380	hsa-miR-3150a-3p	CLIP-seq
MIRT1018381	hsa-miR-3175	CLIP-seq
MIRT1018382	hsa-miR-4640-5p	CLIP-seq
MIRT1018383	hsa-miR-4667-5p	CLIP-seq
MIRT1018384	hsa-miR-4700-5p	CLIP-seq
MIRT1018385	hsa-miR-4726-5p	CLIP-seq
MIRT1018386	hsa-miR-4728-5p	CLIP-seq
MIRT1018387	hsa-miR-4768-3p	CLIP-seq
MIRT1018388	hsa-miR-665	CLIP-seq
MIRT1018389	hsa-miR-939	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Repression	17991764
POU1F1	Activation	16061841;7529501
POU1F1	Unknown	11081207;11874696;15998782;17456792;7608249;7877625;9207961

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002092	Process	Positive regulation of receptor internalization	IDA	9360546
GO:0005125	Function	Cytokine activity	IDA	7782332
GO:0005131	Function	Growth hormone receptor binding	IBA
GO:0005131	Function	Growth hormone receptor binding	IDA	6303755, 8063815
GO:0005131	Function	Growth hormone receptor binding	IEA
GO:0005131	Function	Growth hormone receptor binding	IPI	1549776, 2825030, 8943276, 9571026
GO:0005148	Function	Prolactin receptor binding	IDA	10890569
GO:0005148	Function	Prolactin receptor binding	IPI	7984244
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	8943276, 9353194, 31279174
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	5810834
GO:0005615	Component	Extracellular space	IDA	11549663
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	8063815
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IDA	1549776
GO:0008083	Function	Growth factor activity	IPI	9360546
GO:0010828	Process	Positive regulation of D-glucose transmembrane transport	IDA	9144201
GO:0012505	Component	Endomembrane system	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	7782332
GO:0031012	Component	Extracellular matrix	HDA	28327460
GO:0031667	Process	Response to nutrient levels	IBA
GO:0031904	Component	Endosome lumen	TAS
GO:0031982	Component	Vesicle	IEA
GO:0032355	Process	Response to estradiol	IDA	12552091
GO:0040018	Process	Positive regulation of multicellular organism growth	IDA	7565946, 20110402
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	8496314
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	21980433
GO:0043410	Process	Positive regulation of MAPK cascade	TAS	8063815
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	IDA	7565946
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	8923468
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	7782332
GO:0060396	Process	Growth hormone receptor signaling pathway	IBA
GO:0060396	Process	Growth hormone receptor signaling pathway	IDA	2825030
GO:0060396	Process	Growth hormone receptor signaling pathway	IDA	1549776, 8063815
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IDA	15690087
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IDA	12552091
GO:0060400	Process	Negative regulation of growth hormone receptor signaling pathway	IDA	21980433
GO:0070186	Function	Growth hormone activity	IDA	1549776, 8063815, 8943276
GO:0070195	Component	Growth hormone receptor complex	IDA	1549776, 8943276, 9571026
GO:0070977	Process	Bone maturation	IDA	20110402
GO:0097696	Process	Cell surface receptor signaling pathway via STAT	IDA	12552091

Other IDs

• MIM: 139250
• HGNC: 4261
• e!Ensembl: ENSG00000259384

Protein

• UniProt ID: P01241
• Protein name: Somatotropin (Growth hormone) (GH) (GH-N) (Growth hormone 1) (Pituitary growth hormone)
• Protein function: Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino aci
• PDB: 1A22, 1AXI, 1BP3, 1HGU, 1HUW, 1HWG, 1HWH, 1KF9, 3HHR, 6QIO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00103	Hormone_1	9 → 215	Somatotropin hormone family	Domain

• Sequence:

  MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFEEA
  YIPKEQKYSFLQNPQTSLCFSESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLR
  SVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDD
  ALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF

• Sequence length: 217

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Hormone signaling
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Growth hormone synthesis, secretion and action

Reactome:

Prolactin receptor signaling
Synthesis, secretion, and deacylation of Ghrelin
Growth hormone receptor signaling

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
Ateleiotic dwarfism	Likely pathogenic; Pathogenic	rs1907478805, rs1907472729, rs137853219, rs2509253023, rs71640277	RCV005860212 RCV000017332 RCV000017333 RCV000017335 RCV002504799	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant isolated somatotropin deficiency	Likely pathogenic; Pathogenic	rs1567803095, rs2509250234, rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs2509250570, rs137853223, rs2144739380, rs2144739391, rs754126557	RCV002279179 RCV003455852 RCV000017338 RCV000017340 RCV000017341 RCV000017342 RCV000017343 RCV000017345 RCV000017347 RCV000017349 RCV000017350 RCV000017352 RCV000017353 RCV000017354 RCV000017355 RCV001293731	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GH1-related disorder	Likely pathogenic; Pathogenic	rs2144739391	RCV003894809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic growth hormone deficiency	Pathogenic; Likely pathogenic	rs863223307, rs2509251319	RCV004700243 RCV003988556	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated growth hormone deficiency type IB	Pathogenic	rs797044449, rs71640277, rs863223308	RCV000017337 RCV002504799 RCV000017346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature due to growth hormone qualitative anomaly	Pathogenic	rs137853220, rs71640277, rs137853221, rs137853222	RCV000017339 RCV002504799 RCV000017344 RCV000017351	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONNEVIE-ULLRICH SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL IGHD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased response to growth hormone stimulation test	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH HORMONE-SECRETING PITUITARY ADENOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated congenital growth hormone deficiency	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TURNER SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aarskog syndrome	Aarskog Syndrome	BEFREE	14594174		★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	BEFREE	10102070, 10509364, 10971105, 14671399, 15780958, 28808977, 30706088, 8374657, 9539301		★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	12733711, 16618986, 27147792	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	10701527, 11298082, 12744370, 15473133, 16262568, 16572267, 16832583, 17573420, 17671221, 17916996, 18349058, 20234189, 20956999, 21519236, 21550080, 22200909, 22364960, 22370764, 23648743, 25238988, 25329702, 25470569, 25774503, 26087292, 26610414, 26873451, 26966026, 27125739, 27226307, 27492731, 27509071, 27568329, 27586499, 27631335, 27770388, 27812777, 27858572, 27913611, 27974387, 28077497, 28150161, 28168377, 28217888, 28260207, 28341329, 28611056, 28670222, 28808855, 28862548, 28879646, 28881863, 28913667, 28945897, 28951345, 29222208, 29266696, 29267504, 29269039, 29274063, 29327300, 29374071, 29388045, 29395968, 29479042, 29555234, 29590371, 29604339, 29605877, 29754168, 29971605, 30120907, 30141524, 30203120, 30260174, 30343638, 30394899, 30415402, 30482010, 30506213, 30531696, 30543877, 30619084, 30685760, 30742299, 30775002, 30851160, 30986651, 31096183, 31189769, 31219586, 31372169, 31396153, 31417493, 31511328, 31561638, 31574507, 31741320, 31766255, 31821453, 634558, 7522207, 7573249, 7593431, 8416728, 9348176		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	11404775, 26863932, 27503591, 28002537, 29266696, 30742299, 30843342, 31771524, 33019423, 34027406, 34282806	Stimulate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	15761655, 16126556, 17242703, 18840925, 19293545, 19637311, 2118540, 23640965, 23648743, 25470569, 27070751, 27403655, 27982199, 31189769, 32079542, 32786367, 34081617, 34334589, 34530798, 36497102, 38003353, 6243140	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	CTD_human_DG	1682667, 18381583, 18388193, 3059976, 6237480, 7440347, 9186818		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	29678528		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10873296		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	9598152		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31091214		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	31666193		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	1525063		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	27226307		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10492035, 10498342, 11048804, 11081198, 11189233, 11231991, 11264647, 11298082, 11422110, 11796836, 11964015, 12008749, 12379758, 12665652, 12788890, 1424206, 14739526, 15604292, 15891957, 15994756, 16146821, 16322327, 16391867, 16601360, 16603725, 16631471, 17047391, 17914118, 18367633, 19136928, 19164866, 19302186, 19318494, 19407505, 2004472, 20111911, 20309720, 2121537, 22213031, 22580984, 23045325, 2338572, 23648743, 23652674, 24939736, 25238988, 25527509, 25774503, 26578364, 26797872, 26812771, 27226307, 27267119, 27509071, 27586499, 27655724, 27742789, 28396686, 28427982, 28472827, 28486603, 28591390, 28865461, 28913667, 28994039, 29165661, 29170844, 29267504, 29395172, 29466872, 29532430, 29790934, 29858852, 29902603, 30018744, 30084836, 30196178, 30397189, 30867789, 30880207, 31079182, 31376772, 31477080, 31484850, 31604330, 7698721, 7969790, 8098847, 8102338, 8246449, 8339229, 8434650, 8528360, 8834538, 9176381, 9532003, 9589667		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	20580999		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	8339229		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	25721834, 30583130, 30862574		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	28095038		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	28126912	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	17162714, 21863341, 27872046, 29329447, 2998186		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	25470569	Stimulate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	9598152		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	28987837, 29029108, 29230635, 29975580, 30139824, 30653131		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28187225		★☆☆☆☆ Found in Text Mining only
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Xia-Gibbs syndrome	BEFREE	30729726		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	1442893		★☆☆☆☆ Found in Text Mining only
Alstrom Syndrome	Alstrom Syndrome	BEFREE	14646408		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	12014527		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29310723, 8690157		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25655275, 29149058		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	14599122	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	11563770		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	36950683	Inhibit	★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	19960895		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	12008745		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29137319		★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	31502034		★☆☆☆☆ Found in Text Mining only
AROMATASE EXCESS SYNDROME	Aromatase Excess Syndrome	BEFREE	30530883		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16522693, 28477727, 28611056, 30225826		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29887869		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	26108478	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	19626507, 19898915		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16522693, 28477727, 28611056, 29144802, 30225826		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	29310723		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	12898583		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	12898583	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28216655, 31075085, 7488816		★☆☆☆☆ Found in Text Mining only
Azotemia	Azotemia	CTD_human_DG	14728886		★☆☆☆☆ Found in Text Mining only
Balkan Nephropathy	Balkan Nephropathy	BEFREE	24126075		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	1605173, 22707176		★☆☆☆☆ Found in Text Mining only
Basal encephalocele	Basal encephalocele	BEFREE	19169473		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	30326162		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	28808855, 30843180		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	21536370		★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	BEFREE	29204067		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	35986174	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	21995288	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	31139603, 31842575		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	37525886	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	29905027		★☆☆☆☆ Found in Text Mining only
Bonnevie-Ullrich Syndrome	Turner syndrome	CTD_human_DG	15151564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	26377682, 28516751, 29373545		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28746941	Associate	★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	28746941		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	19472088		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12082019, 12431808, 15241820, 16214911, 16284391, 16322325, 16322331, 16606630, 18497055, 18974274, 19208747, 19543094, 19622619, 22442272, 23782942, 23851143, 24464925, 25085903, 26225688, 28379395, 29022487, 30467667, 31468986, 7794815		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11290538, 11297545, 11994274, 15241820, 15353581, 15845533, 23782942, 26225688	Associate	★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	9202662		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	19679066		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	30915029		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	7678796		★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	1730091	Associate	★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	29469136	Associate	★☆☆☆☆ Found in Text Mining only
Cantu syndrome	Hypertrichotic osteochondrodysplasia	BEFREE	29327300		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11404775	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30786680	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	7738169, 9389738		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28617312	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	9245699		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21897749	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23421922, 29574794, 31115196		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34757052, 34896604	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10525494		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	11042020		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	14671411, 28068655, 28511669, 28611056, 28786951, 29065852, 29346331, 29375617, 31396153, 31689713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	14998943, 15591764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	17324600		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	39354608	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carney Complex	Carney Complex	BEFREE	15135786, 15761658, 16411062, 17001464, 17047380, 20507346, 27509071, 27535175		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney complex	Pubtator	15761655, 27535175, 38626285	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	15780958		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	30581325		★☆☆☆☆ Found in Text Mining only
Caudal Regression Syndrome	Caudal regression sequence	BEFREE	28124993		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	26043316		★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	BEFREE	17162714, 18174732, 26302767, 2634610, 30400062, 30865544, 31316460, 9485179, 9588494, 9632165		★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	BEFREE	28631895		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	29310723		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30049813		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11735233, 16572267, 26762506, 27815769, 29222208, 29636425		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18832799		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	9598152		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27770281		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36098712	Associate	★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	28902430		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	8144621		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	19960895		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	15194259		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	15194259, 21540481, 24463190, 28376076, 29974043, 30394899, 30442108, 31197263, 31334210, 31352157		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	21540481		★☆☆☆☆ Found in Text Mining only
Chronic metabolic acidosis	Metabolic Acidosis	BEFREE	10955915		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30781849		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	33852720	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	12044524		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial dysplasia	Pubtator	30468148	Inhibit	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	26755826	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	22419608, 22995099		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27852283	Inhibit	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30081594	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	30372675	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	16012947, 17148664, 28486400, 28538694, 28946616		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16012947, 27226307, 28622965		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	27226307		★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	20580999	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11904318, 15481327, 15736405, 17764692, 19064544, 20168335, 24464925, 24788673, 31578582		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	11904318		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18255351, 19064544	Associate	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	17162714, 28332357	Inhibit	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	34440302, 35029852, 35456463	Associate	★☆☆☆☆ Found in Text Mining only
Compensated hypothyroidism	Compensated hypothyroidism	BEFREE	11335753		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	21123951	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33615449	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	28126912, 28225306		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	14594172		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	22832081		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	31712112		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	31479030		★☆☆☆☆ Found in Text Mining only
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	BEFREE	15112913		★☆☆☆☆ Found in Text Mining only
Congenital hypoparathyroidism	Congenital hypoparathyroidism	BEFREE	10830039		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	BEFREE	22333897		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	17336732, 21274339		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10525494, 11799079, 15081312, 16406300, 22370764, 28095492, 28695463, 29137319, 29153202, 29468912, 30266359, 31079696, 31696666, 31712112		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30862574		★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	28588001		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25977383		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	28987837, 29029108, 29230635, 29532430, 29858852, 29975580, 30139824, 30653131		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28124993		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17148664, 18341091, 29329430, 30149380		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	LHGDN	12566947		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	16789617, 30150346		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	1687684, 29098662, 31006073, 31679733		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30805948		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	20821386		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	10465356, 8951963, 9673456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	30773449, 30929221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	BEFREE	27898492, 28168533		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30513923		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11527082, 14671410, 15248828, 22370764, 28194444, 28323955, 28324032, 29395968, 29602470, 30225826, 30297647, 30394899, 30690790, 30775002, 30819016, 8895392		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	31689713	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	BEFREE	27165294, 29395172, 30694793, 31011258		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11527082, 12529387, 14671410, 15248828, 22370764, 25977383, 28150161, 28194444, 28323955, 28324032, 28516752, 28588004, 28748185, 28988225, 29113856, 29395968, 29602470, 29679919, 29767287, 30225826, 30297647, 30394899, 30690790, 30775002, 30792694, 30819016, 31347550, 31574933, 31829160, 634558, 8895392		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	14998943		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29351335, 33795655, 36549505	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	11725827	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	1128640, 11725827, 25740786, 28482269, 29249623, 29656861, 29989677, 9440474, 9667787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10778862, 10909980, 11782864, 1442893, 14671410, 15761241, 17211558, 27592119, 28854950, 30049813, 30289304, 30299891, 30773997, 31189758, 31578582, 31599132, 31689713, 8093122		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	15112913		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	11527082, 20682777, 25740786, 28748185, 31511328, 8895392		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	15248828, 29452885, 634558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	20101668		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	10084571, 10102074, 10549302, 10549304, 11042020, 11916628, 12082019, 12116237, 12655557, 14515015, 14525947, 14767497, 15001589, 15214014, 15351087, 15358277, 1548338, 15780958, 16133065, 16522693, 16770808, 1687684, 17172669, 17301034, 17347571, 17389811, 17462934, 18341091, 18404972, 18434272, 18556960, 18614544, 19169473, 19189700, 19407500, 19550387, 19627167, 19850687, 19926713, 19960895, 20374725, 20679995, 20852587, 21138478, 21232999, 21438134, 21540481, 21846964, 21912148, 21912164, 22117696, 22205208, 22419608, 22707176, 22768656, 22798484, 23009903, 23921484, 24356109, 24463190, 24559069, 25044170, 26437621, 26510874, 26529521, 26540763, 2707163, 27252485, 27457999, 27688483, 28011067, 28253502, 28324032, 28425851, 28452585, 28502327, 28525353, 28877703, 28921500, 29103133, 29259130, 29280742, 29397377, 29537382, 29547045, 29653683, 29669803, 29687007, 29724795, 29748515, 29769040, 29844444, 29863767, 29905027, 29925064, 29940653, 29992743, 30017534, 30110706, 30130251, 30139820, 30197657, 30237229, 30273774, 30334813, 30343148, 30378787, 30419879, 30460459, 30468148, 30517079, 30625464, 30678423, 30721549, 30765323, 30836360, 30988753, 31073528, 31119649, 31133697, 31185471, 31197263, 31199775, 31301056, 31444966, 31514194, 31616374, 6432628, 7328612, 7565946, 7572093, 7775649, 7957420, 8093122, 8137822, 8144848, 8670892, 8840279, 8895326, 8895372, 9044309, 9050774, 9207075, 9255230, 9276733, 9348176, 9371826, 9388817, 9535288, 9554469, 9799079, 9855700		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	10794594, 14599122, 20158889, 24398869, 26719670, 28780521, 28872989, 29537382, 31079043, 33578586, 34412613, 36960394, 37010587, 40198521, 5480844, 8818955	Inhibit	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	10943739, 11509865, 17178704, 2325087, 25920498, 26108478, 26444854, 27651465, 28067847, 28332357, 30678423, 31835104, 32338337, 32652002, 32936763, 33762520, 34440302, 35029852, 36714562, 6286724, 8151648, 9152628	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	37611564	Stimulate	★☆☆☆☆ Found in Text Mining only
Dysbiosis	Dysbiosis	Pubtator	31959989	Associate	★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	22798484		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28306672, 28729704, 28854950, 30081594		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	10698589, 10830039, 12008745, 19844116, 31604330, 31782896		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	15351087		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	17616759, 29179911		★☆☆☆☆ Found in Text Mining only
Empty Sella Syndrome	Empty Sella Syndrome	BEFREE	31199775, 3660403, 3950729, 9826209		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	10890176	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	11335753, 27803030, 30233002		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	27585662		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20668024, 21567106, 21849525		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	16564564		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	16564564		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	18684444		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	29571594		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	28500244		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	19463895		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	LHGDN	14671660		★☆☆☆☆ Found in Text Mining only
Erythroid hyperplasia	Erythroid hyperplasia	BEFREE	29222208		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	27770281		★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	BEFREE	9667787		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	25433523	Associate	★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	8820990		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	19773212, 30974062		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	19540305		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	18716735, 28502327, 29708397		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18716735, 28502327, 29708397		★☆☆☆☆ Found in Text Mining only
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	7659197		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28500244, 30130150, 31275240		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	30206761	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28678199, 30206761		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	7573249		★☆☆☆☆ Found in Text Mining only
Floating-harbor syndrome	Floating-Harbor Syndrome	BEFREE	22570979		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	31771524		★☆☆☆☆ Found in Text Mining only
Follicle stimulating hormone deficiency	Follicle Stimulating Hormone Deficiency	BEFREE	17162714, 18174732		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	29708397		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	1513281		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	24302194		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	15334699	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	28260048		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	27621150		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	27425121		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	10534168		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	28085675		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	15723912, 21073120, 29427215		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11472074, 28631895		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26096762		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	10844600, 31771524, 8895392, 9003027		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	31771524	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	BEFREE	22269647		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	28085675		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 45,X	Gonadal Dysgenesis	CTD_human_DG	15151564		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 45,X	Gonadal Dysgenesis	BEFREE	463942		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, Mixed	Gonadal Dysgenesis	BEFREE	26529521		★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	12008745, 14714754, 2998186		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	8944430	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	34412613	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	10943739, 19189700, 20013551, 22333897, 28768959, 29469136, 29687007, 31566922, 31835104, 32132170, 32338337, 32652002, 33686842, 34740356, 35029852, 36597844, 36714562, 36952491, 37476877, 37605180, 39341815, 9076339, 9276733	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	17241478, 27125300, 29197219, 30017534, 30468148, 31883394, 34922359, 35764954, 36635911, 36734391, 40487758	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	10487694, 10651751, 11298081, 11699555, 12807513, 1424206, 15473133, 16216913, 16603725, 2004472, 23648743, 25774503, 27455094, 27900635, 28602880, 28994039, 30210447, 30643415, 31189769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	CTD_human_DG	1611713, 2042694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30816300		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	30786680	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34757052	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10525494, 11799079, 15081312, 16406300, 22370764, 29137319, 29153202, 30266359, 31079696, 31696666		★☆☆☆☆ Found in Text Mining only
Heart Neoplasm	Cardiac Neoplasms	BEFREE	27535175		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22798484		★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	BEFREE	21744088		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	36597844	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	30349200, 8239704		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	30349200, 8239704		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22333897	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28187225, 9598152		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19845749		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	6285301		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	6285301		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	18247421		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	LHGDN	12240900		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	18840925	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28826566		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	1201152		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10909980, 20543213, 25295535, 26510874, 28822091, 30685760, 30738804, 646240, 7596677		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	11904616, 1442893, 15536017, 19955767, 22442376, 25295535, 28316059, 28475811, 29355723, 30227383, 31071497		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	15339744	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	19625744	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28156155, 6808452		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	26797872	Associate	★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	1594625, 16411062, 17001464, 1923946, 28780516, 30109498, 3143542		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	8069405	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16572267, 28156155, 28988225, 29113856, 29975581, 30225826, 30258404, 31655776, 31663986		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	16572267, 17211256		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29599748, 30543877, 31302655		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis Terminalis Generalized with or without Gingival Hyperplasia	Hypertrichosis	Pubtator	33686842	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	212575	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	29785038, 30583130		★☆☆☆☆ Found in Text Mining only
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	10102069, 29739731, 8374657		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	1078755, 11585376, 17229322, 20061274, 21035823, 22232309, 23426831, 25263215, 27217489, 27585961, 27701682, 28110155, 28420673, 29032494, 29157780, 29233536, 29796992, 30910968, 31366244, 31448886, 31455689, 31465295, 3917947, 604492, 7658270, 8516423		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	31448886, 3917947	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	10830039, 11344229, 12008745, 28508601, 2998186, 30159242		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	17588847	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33565750	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	14714754, 20061274, 27165294, 29458121, 7328612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	19773212		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	15674949, 28130634, 30974062, 9323282		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	1404301, 34440302	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypopituitarism	Hypopituitarism	BEFREE	15930161, 2569392, 26886902, 27165294, 27809356, 27815769, 28477733, 28923784, 29030774, 29406008, 29521487, 29575874, 29678528, 29895033, 2998186, 30240112, 30653105, 30653131, 31011258, 31275240, 31447781, 31776295, 8929724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	BEFREE	10461026, 11335753, 17162714, 18174732, 21316014, 26302767, 2634610, 6808452, 8637440, 9485179, 9588494, 9632165		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	35029852, 9675567	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32111982	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	29863263		★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	24015757		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	27484773, 28590503		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	7527197		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	14525947, 17172669, 28477736		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22419608, 22995099, 28382595, 31073904		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	29443755		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	16012947, 28486400, 28946616, 29343614, 9037234		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	27898492		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	15339744	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	18840925, 30325658, 36549505	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin-Like Growth Factor I Deficiency	Insulin-Like Growth Factor I Deficiency	BEFREE	10698589, 16998539, 17986822, 18073295, 19627167, 20543555, 21274339, 24296660, 25085903, 26510874, 26703237, 27030147, 27982500, 28695822, 29242356, 29375617, 30197657, 31115572, 31527400, 31791247		★☆☆☆☆ Found in Text Mining only
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	BEFREE	29395968		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12008745		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	31078722		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	15081312		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	7658270, 8416728		★☆☆☆☆ Found in Text Mining only
Isolated growth hormone deficiency type IA	Isolated Growth Hormone Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Isolated growth hormone deficiency type IB	Isolated Growth Hormone Deficiency	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated growth hormone deficiency type II	Isolated Growth Hormone Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type IB	Isolated Growth Hormone Deficiency	UNIPROT_DG	12655557		★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type IB	Isolated Growth Hormone Deficiency	ORPHANET_DG	19762173, 22139958		★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type IB	Isolated Growth Hormone Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type IB	Isolated Growth Hormone Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type II	Isolated Growth Hormone Deficiency	UNIPROT_DG	11502836, 9152628		★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type II	Isolated Growth Hormone Deficiency	BEFREE	12720086, 17038549, 18586677, 31436800, 8923859		★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type II	Isolated Growth Hormone Deficiency	ORPHANET_DG	19762173, 22139958		★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type II	Isolated Growth Hormone Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type II	Isolated Growth Hormone Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type II	Isolated Growth Hormone Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	Isolated Growth Hormone Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V	Isolated Growth Hormone Deficiency	ORPHANET_DG	19762173, 22139958		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	10392355, 10698589, 10910189, 11042020, 11216706, 11358674, 11502836, 11691648, 12083945, 12450581, 14614229, 15108211, 15194259, 15358277, 15536017, 15780958, 15891957, 1603635, 16291702, 16355809, 16368751, 16424673, 16582564, 16818119, 17038549, 17178704, 17371461, 17372760, 17547682, 17573420, 17951089, 17957148, 17965963, 17986824, 18247421, 18556960, 19036620, 19050057, 19169473, 19337183, 19407500, 19610268, 1980158, 19849699, 20050859, 20603861, 20679995, 20852587, 20855935, 20960275, 21073120, 21253827, 21535007, 21546299, 21933221, 22016154, 22026923, 2233903, 22456308, 22549341, 22707176, 22776023, 23009903, 23027770, 23182825, 23380306, 23426831, 23567489, 23736291, 23921484, 24015757, 24127307, 24398869, 24905066, 25153028, 26096762, 26199111, 26276451, 26363846, 26522453, 26607998, 27114065, 27252485, 27416976, 27484773, 27489211, 27651465, 27730472, 27736009, 27756091, 27770281, 27789066, 27803031, 27932411, 28067847, 28068655, 28095492, 28150584, 28196799, 28201598, 28245459, 28332357, 28422341, 28477727, 28477728, 28477731, 28477733, 28477736, 28500244, 28511077, 28516748, 28566441, 28595133, 28606615, 28746436, 28786951, 28826566, 28863921, 28910730, 28921500, 28923784, 28936199, 28938456, 28984256, 28988225, 29030774, 29040069, 29099758, 29206809, 29228199, 29274063, 29278515, 29310723, 29317355, 29465564, 29488103, 29521487, 29527190, 29546874, 29553045, 29562611, 29575874, 29579637, 29615058, 29649340, 29652668, 29658834, 29671202, 29855605, 29959763, 29973375, 29975109, 29976785, 30014342, 30053742, 30081594, 30117531, 30133980, 30197657, 30199857, 30227383, 3024485, 30250451, 30251164, 30266359, 30297647, 30542372, 30581325, 30625464, 30678118, 30712287, 30773449, 30836359, 30884465, 30929221, 30970583, 31079043, 31100717, 31199775, 31279174, 31284701, 31370860, 31379735, 31396160, 31417499, 31461713, 31493626, 31502034, 31514194, 31576764, 31641350, 31658340, 31700044, 31835104, 3923425, 6286724, 6539375, 7957420, 8104861, 8193484, 8333769, 8825869, 8895326, 8923859, 9050774, 9152628, 9255231, 9432120, 9578959, 9698799		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	LHGDN	16109534		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	22205208, 28343613, 29029101		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	30556359		★☆☆☆☆ Found in Text Mining only
Kabuki syndrome	Kabuki syndrome	Pubtator	30556359, 34607328	Associate	★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	9667787		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	22123209, 25740786, 30394899, 31352157, 8932997		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31771524	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	15194259		★☆☆☆☆ Found in Text Mining only
Kowarski syndrome	Kowarski syndrome	ORPHANET_DG	15713716, 8552145, 9276733		★☆☆☆☆ Found in Text Mining only
Kowarski syndrome	Kowarski syndrome	UNIPROT_DG	17519310, 8552145, 9276733		★☆☆☆☆ Found in Text Mining only
Kowarski syndrome	Kowarski syndrome	BEFREE	9554469		★☆☆☆☆ Found in Text Mining only
Kowarski syndrome	Kowarski syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kowarski syndrome	Kowarski syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Langer Mesomelic Dysplasia Syndrome	Langer Mesomelic Dysplasia Syndrome	BEFREE	19850687		★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	BEFREE	10698588, 10698589, 11013443, 12083945, 12199334, 12511849, 1284474, 14594180, 17030597, 17320443, 17405847, 17596857, 17728167, 17849745, 17986822, 18556960, 20583548, 22117696, 2233903, 26276451, 26510874, 26703237, 2779634, 2813379, 29208357, 29339473, 29395968, 29459441, 7775649, 7868073, 7949596, 8137822, 8333769, 8450064, 8521189, 8626815, 8977385, 9024234, 9030971, 9207075, 9255228, 9255230, 9371826, 9388817, 9723864		★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	LHGDN	18462969		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28156155		★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	29137319		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	29459441		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	14599122	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22287738, 28516752		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	28190647		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	28403619, 28477736, 28977588		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	10854539		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10772770, 10963047, 11916628, 20572587, 21793836, 31272083, 7556880		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12044524, 28922679		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	36973824	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10772770, 11916628, 31272083, 7556880		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	2145655	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	27803128		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	31685880	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11216706		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	30333823		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	28190287		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	28007843		★☆☆☆☆ Found in Text Mining only
Macroprolactinoma	Macroprolactinoma	BEFREE	12008749		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	15955844		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	28187225		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	31452114		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12082019, 12431808, 15241820, 16214911, 16284391, 16322325, 16322331, 16606630, 18497055, 19208747, 19543094, 19622619, 22442272, 23782942, 24464925, 25085903, 26225688, 28379395, 29022487, 30467667, 31468986, 7794815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	14607744, 30389231		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	9245699		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11597555, 15196705, 15870705, 19540305, 23238889, 28444169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28689597		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10534168, 12032660, 16214911, 17101287, 17102589, 19566830, 19626507, 20130947, 20956999, 23434537, 23737970, 23940366, 24134847, 24464925, 26377682, 26510874, 26886902, 27090428, 27226307, 28187225, 28223541, 28316059, 28477727, 28477731, 28617312, 28621564, 28938477, 28967904, 29109092, 29228199, 29395968, 29493126, 29756419, 29905027, 30049813, 30299891, 30378787, 30500870, 30775002, 8538654, 9373460		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27226307, 28622965		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	10404796, 23940039, 23980167, 27712965, 28729704, 29433861, 30923555, 31347485, 7958620, 8793418		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	36973824	Inhibit	★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	37251684	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	BEFREE	15845533		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	1446049, 25085903		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16322331, 17082888		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	1594625, 16720661, 20197676, 27535175, 28007843, 29672904, 29984378, 30150346, 31801917		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	20653854		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10470136, 24134847, 28223541, 31547367		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	30137467		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	10465356, 8951963, 9673456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	30773449, 30929221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	12008745		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	12428212		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	25923102, 28420717, 30227383		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27070751, 39354608	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	29266696	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	12119665, 24995855, 27689944, 28306672, 29144802, 30206761, 30294284, 31578582		★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	30352406		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	1442893		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	31781044		★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	17951089		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	15666312		★☆☆☆☆ Found in Text Mining only
mosaic variegated aneuploidy	Mosaic Variegated Aneuploidy	BEFREE	12116237		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	LHGDN	17116217		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	15761658, 17047380, 18300794, 7598693, 8551667, 8644767		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27982500		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28460598		★☆☆☆☆ Found in Text Mining only
MUNGAN SYNDROME	MUNGAN SYNDROME	BEFREE	19169473		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	7350201		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30326162, 31188496, 3524231, 8533838		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	2741928		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	31747806		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10525494, 10831629, 11735233, 15081312, 27839834, 9229233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	604492		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	1142379, 8516423		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	1142379		★☆☆☆☆ Found in Text Mining only
Myxoma of heart	Myxoma Of Heart	BEFREE	27535175		★☆☆☆☆ Found in Text Mining only
Myxoma of the Endocardium	Myxoma Of The Endocardium	BEFREE	27535175		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	31599135		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	BEFREE	23426831		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10097256, 10432933, 10611309, 10651751, 11189233, 11231991, 11443154, 11472074, 11579678, 11678840, 11904318, 11972303, 12008749, 12788890, 1446784, 15761658, 15891957, 17001464, 17047380, 17671221, 18174729, 18300794, 18832799, 19407505, 19626507, 20029239, 2004472, 21849525, 2213163, 22614013, 2338572, 24307807, 24662816, 25085903, 25527509, 25839904, 25977170, 26070963, 26377682, 27226307, 27267119, 27509071, 27535175, 27585662, 27586499, 27778296, 27779153, 27858572, 28170483, 28223541, 28232376, 28323918, 28516751, 28622965, 28631895, 28642181, 28746941, 28766078, 28849339, 28865461, 29228199, 29238923, 29360584, 29390316, 29440248, 29545227, 29604339, 29678528, 29906579, 29925553, 30192191, 30215558, 30531694, 30531696, 30610567, 30639490, 30742299, 30843342, 30867789, 30944618, 31035466, 31368083, 31541405, 31574507, 31604330, 31766255, 3950729, 3993857, 7598693, 7794815, 7964988, 8396223, 8766942, 8769403, 9284826, 9609310, 9666339, 9678473, 9851782		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	27809640		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14741405, 20821386		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29149058, 29310723		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	27770281		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30531696, 30650942		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	18297205	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	18614544, 2491782, 28631895, 2896630, 31189769, 8989459		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	18462969, 24716226, 28125073, 28678199, 28902430, 29341046, 29724029, 29975946, 30389231		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	27770012, 28825138, 29910227, 29975580, 30049813, 30299891, 31035466, 31776295		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28678199		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30460884		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	LHGDN	15004410		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	15956085, 15985475, 17598979, 18174700, 20029235, 20029236, 20029237, 20029238, 20029239, 22329457, 22777296, 26377682, 28746941, 30378787, 30664951, 30939478, 31115197, 31132774		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	2001114, 22524084, 22777296, 26444854, 28746941, 34757052, 34858328	Associate	★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	27125300	Inhibit	★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	BEFREE	22419608, 26096762		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10333553, 11022201, 12714788, 14726450, 17211558, 18462969, 21047921, 21386804, 23341784, 23428692, 24443368, 25085903, 25900037, 26680478, 26732027, 27654882, 28244645, 28640444, 28671425, 28933734, 29459441, 29679919, 29763375, 30139824, 30159242, 30206761, 30294284, 30576246, 30587244, 31527400, 6122854, 6808452, 8374676, 8769133, 8770900, 9207075, 9645676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	18567561, 22518832, 23529462	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	20150954, 20580999, 23015655, 26680478, 26774404, 31698873, 35876725, 40147358	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	8923850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Abdominal	Obesity	Pubtator	26774404	Associate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	24443368, 9537324		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	19773212		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	19773212	Associate	★☆☆☆☆ Found in Text Mining only
Optic Nerve Glioma	Optic Nerve Glioma	BEFREE	28631895		★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	BEFREE	29672904		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	26791357, 27030147		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	34010451	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	15883639, 15990661, 21670757, 25530967		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	12568401	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	15472182, 21322098, 28475811, 29343614, 31297094, 31831786, 7876328		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	15472182		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	17708142, 19773212, 20712799, 22316390		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	19773212	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32846772	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	29030774, 7876328		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	BEFREE	29030774		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	11325513, 21619704, 24489959, 29905027, 8123049, 9010346, 9390018		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	31485887		★☆☆☆☆ Found in Text Mining only
Pallister-Hall syndrome	Pallister-Hall Syndrome	BEFREE	11241471		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	8416728		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	9420436	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35313971	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Acute Necrotizing	Necrotizing pancreatitis	BEFREE	11484917		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	11081182, 15339237, 17162714, 17526949, 18059085, 18174732, 20431169, 23831233, 27114065, 27756091, 28332357, 28925898, 30765453, 31022740, 3950729, 8805025, 9462743, 9588494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25329702		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	BEFREE	28780516		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	30503129	Associate	★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	BEFREE	20158889		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	16824679		★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	11358674		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	30352406		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29797719		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	BEFREE	18540256		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	19463895		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	11836449, 20507346, 23940366, 27267848, 27655724, 27756664, 27987061, 28602880, 28705113, 28849339, 29155347, 29466872, 29902603, 29906579, 30843342, 30862574, 31372169, 9609310		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	CTD_human_DG	19420816		★☆☆☆☆ Found in Text Mining only
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)	Pituitary adenoma	BEFREE	30447469		★☆☆☆☆ Found in Text Mining only
Pituitary carcinoma	Pituitary carcinoma	CTD_human_DG	19420816		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	10221164, 11335753, 15266617, 16603725, 18614544, 23940366, 2502012, 2574416, 26268531, 28285384, 28332357, 28993146, 29796992, 29887137, 29934855, 30171531, 30230184, 30555419, 8473291, 8825869, 9799079, 9828108		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	10392355, 10469016, 11502836, 11916628, 12457450, 15339237, 1548341, 1603635, 16368751, 16424673, 17132747, 17178704, 17371461, 17372760, 17965963, 18554279, 1967179, 20603861, 20852587, 20855935, 21232999, 21274317, 21933221, 21995288, 22016154, 2233903, 23182825, 2347891, 23736291, 25153028, 26363846, 27114065, 27252485, 27484773, 27756091, 28332357, 2840669, 28456063, 28511077, 28910730, 28925898, 29353264, 29797719, 29905027, 3024485, 30678118, 31279174, 31835104, 3660403, 3923425, 6286724, 7957420, 7962317, 8104861, 8333769, 8923859, 9152628, 9432120, 9578959, 9698799, 9814493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary dwarfism	Pituitary dwarfism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary dwarfism 1	Pituitary dwarfism	Pubtator	34470639, 8151648	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	Pituitary dwarfism	ORPHANET_DG	19762173, 22139958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	Pituitary dwarfism	BEFREE	23295298, 7509217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	Pituitary dwarfism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	Pituitary dwarfism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	Pituitary dwarfism	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Hormone Deficiency Combined 1	Pituitary hormone deficiency	Pubtator	40141050	Inhibit	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	11836449, 15070915, 15118275, 16622555, 17242703, 18445999, 19637311, 20507346, 21208107, 21744088, 23648743, 24077272, 26037177, 27779153, 28705113, 30684245, 31189769, 32079542, 32111982, 33281746, 33752302, 34530798, 35202564, 36435867, 37104368, 37800955, 40415137, 8157764, 8528360, 9284826	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	12590639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	1521511, 1922020, 1977758, 25774503, 27974387, 29123133, 30843342, 31578227, 3524338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	15761655, 16505278, 18840925, 19293545, 27503591, 29266696, 9420436	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Neoplasms	Pituitary Neoplasms	CTD_human_DG	19420816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	25322266, 25402377		★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	25044170		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	21744088	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	28202165		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	28104302		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	15950665		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	18840925, 33287836	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31529097		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	CTD_human_DG	15161484		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	BEFREE	29222208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	20580999		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	12714788, 15112913, 15194259, 15198290, 16770808, 17550213, 19267411, 19665940, 20061428, 20651469, 21540481, 22052808, 22585665, 22948460, 23696513, 24443368, 24515997, 27606906, 27689944, 28516752, 29273483, 29390364, 29418016, 30209801, 30788853, 30973645, 31257692, 31271556, 31313492, 31454785, 31479030, 31698873, 31782896, 9018447, 9625361		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	10353939, 17021578, 18489744, 30569567, 30693027, 31079043		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31100717		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20821386		★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	BEFREE	30865544		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	15135774		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	26108478, 26268531	Associate	★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	1590260, 17642424		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	25470569	Stimulate	★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	35202564, 40684399	Associate	★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	11298082, 14739526, 15070915, 16216913, 16391867, 18367633, 19318494, 22580984, 27267119, 27756606, 28825138, 29165661, 29532430, 29790934, 30476659, 31061247, 7969790, 8339229		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	19463895		★☆☆☆☆ Found in Text Mining only
Proprotein Convertase 1 3 Deficiency	Proprotein Convertase 1/3 Deficiency	BEFREE	28588004		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11597555, 15196705, 15870705, 19540305, 23238889, 28444169		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	33795655	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	2031618		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	25464124, 27425121, 34740356	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	24127307, 25464124, 27425121		★☆☆☆☆ Found in Text Mining only
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	BEFREE	2031618		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	9347796		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30460884		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	31685880	Inhibit	★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	BEFREE	20357177, 9007336		★☆☆☆☆ Found in Text Mining only
Rabson-Mendenhall Syndrome	Rabson-Mendenhall Syndrome	BEFREE	17560154		★☆☆☆☆ Found in Text Mining only
Reifenstein Syndrome	Reifenstein Syndrome	BEFREE	21535007		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30862574		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	30394899		★☆☆☆☆ Found in Text Mining only
Resistance to Insulin-Like Growth Factor I	IGF-I RESISTANCE	BEFREE	31114545		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	19463895		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	8932997		★☆☆☆☆ Found in Text Mining only
Retrognathia	Retrognathia	Pubtator	31685880	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	23432975		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	16406300		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16406300, 20346234		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	29478008		★☆☆☆☆ Found in Text Mining only
Rickets Hypophosphatemic	Hypophosphatemic rickets	Pubtator	19773212	Inhibit	★☆☆☆☆ Found in Text Mining only
Robinow Syndrome	Robinow Syndrome	BEFREE	9826209		★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	23432975		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	14760276, 27585961, 28806298, 30622515, 9733042		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22287738		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17044098, 29518740		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	16770808, 19665940, 28877703, 29273483		★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	9202662		★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	BEFREE	14614227, 16879162, 17162714, 17526949, 18174732, 26062517, 26302767, 2634610, 30931510, 31811804, 9485179, 9588494, 9632165		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	10534168		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	16757526, 21249393		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	19536455, 28115288		★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	12457450		★☆☆☆☆ Found in Text Mining only
Short stature due to growth hormone qualitative anomaly	Kowarski syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES	Short Stature With Nonspecific Skeletal Abnormalities	BEFREE	29155992		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	BEFREE	12217488, 31185471		★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	11669356		★☆☆☆☆ Found in Text Mining only
Sialuria	Sialuria	BEFREE	11669356		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	26791357, 27030147		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	18468308	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	23490203	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	15351087, 28384333		★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	18468308		★☆☆☆☆ Found in Text Mining only
Slipped Capital Femoral Epiphyses	Slipped Capital Femoral Epiphyses	BEFREE	17088401		★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	15138811, 15351087		★☆☆☆☆ Found in Text Mining only
Somatotrophinoma, Familial	Somatotroph adenoma	CTD_human_DG	1611713, 2042694		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	11042025, 11691648, 12083945, 12657568, 12915652, 15194259, 15358277, 15780958, 16023877, 16291702, 16582564, 17038549, 17371461, 17462934, 17957148, 17986824, 18174708, 19169473, 19337183, 19610268, 1980158, 19849699, 21073120, 21232999, 21540481, 22456308, 22549341, 23009903, 23027770, 23380306, 23567489, 23921484, 24127307, 24398869, 24905066, 26096762, 26199111, 27114065, 27416976, 27484773, 27651465, 27730472, 27736009, 27756091, 27789066, 27803031, 27932411, 27982500, 28067847, 28068655, 28150584, 28161880, 28196799, 28201598, 28422341, 28477727, 28477731, 28477736, 28516748, 28516749, 28566441, 28746436, 28760908, 28902629, 28921500, 28923784, 28925898, 28926833, 28938456, 28947559, 28984256, 28988225, 29030774, 29070768, 29206809, 29219047, 29228199, 29353264, 29465564, 29478008, 29488103, 29527190, 29536433, 29546874, 29553045, 29562611, 29575874, 29579637, 29605215, 29615058, 29618660, 29649340, 29652668, 29656861, 29658834, 29671202, 29886481, 29910227, 29959763, 29973375, 29975109, 30053742, 30117531, 30130795, 30133980, 30197657, 3024485, 30251164, 30332395, 30346875, 30352393, 30581325, 30619080, 30678118, 30691498, 30804998, 30836359, 30884465, 30973645, 30988753, 31087421, 31100717, 31199775, 31301056, 31370860, 31379735, 31417499, 31423546, 31493626, 31502034, 31514194, 31576764, 31639023, 31641350, 31676901, 31696446, 31700044, 31829160, 31849835, 3923425, 6539375, 8193484		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Spondyloenchondrodysplasia	Spondyloenchondrodysplasia	BEFREE	28740483		★☆☆☆☆ Found in Text Mining only
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION	Spondyloenchondrodysplasia With Immune Dysregulation	BEFREE	28740483		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia congenita	Spondyloepiphyseal dysplasia	Pubtator	39953747	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28500244, 30130150, 31275240		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	11404775, 15069712	Associate	★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet syndrome	Pubtator	39354608	Associate	★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	29940586		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	29209767		★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	BEFREE	15889416		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	30352406		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	29699389		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30786680	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28689597		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	11725827, 29274063, 31477080		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	1910478, 2116665		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	25464124	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	27425121		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	1594625, 8339229		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	31477080		★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	15723912, 21073120, 29427215		★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	32462855	Inhibit	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	10698588, 27124035, 30625464		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	BEFREE	15723912, 21073120, 29427215		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	15723912, 21073120, 29427215		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	10084580, 10419243, 10665663, 10703533, 12053087, 14986122, 15194259, 15367813, 15695313, 15723912, 15784709, 16351583, 16757526, 17088401, 1740496, 17540594, 17666093, 18354336, 19188742, 19681916, 19850687, 20653854, 20733274, 21073120, 21540481, 22456308, 22847945, 22921912, 22946279, 22946287, 23426831, 23567489, 24905066, 26182480, 26824976, 27651465, 28236628, 28522645, 28902629, 29427215, 29541059, 29652668, 29739732, 30088853, 30378785, 30658614, 30811776, 30836359, 30930850, 31009056, 31075085, 31213699, 31227282, 31684688, 31685880, 31696446, 463942, 7734902, 7830217, 8223783, 8777919, 8989459, 9030970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turner Syndrome	Turner syndrome	Pubtator	12905513, 2168659, 23539612, 25826153, 27651465, 29699389, 31685880, 34858328	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turner Syndrome	Turner Syndrome	CTD_human_DG	15151564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turner Syndrome	Turner syndrome	Pubtator	20733274, 30786680, 36734391, 37476877	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	28946616		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	18832799		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	7573249		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	28993395		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	17300770		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	29478008, 29762475, 30885216		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	15674949, 28130634, 29058153, 30974062, 9323282		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	35876725	Inhibit	★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	BEFREE	15108211		★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	12197892, 17082603, 19189700		★☆☆☆☆ Found in Text Mining only