KL (klotho)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 9365
• Gene name: Klotho
• Gene symbol: KL
• Synonyms (NCBI Gene): HFTC3, KLA
• Chromosome: 13
• Chromosome location: 13q13.1
• Summary: This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908423	A>G	Likely-pathogenic, pathogenic	Intron variant, missense variant, coding sequence variant

miRNA Show/Hide all (36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019099	hsa-miR-335-5p	Microarray	18185580
MIRT053233	hsa-miR-199a-5p	SGC-7901	24655788
MIRT053233	hsa-miR-199a-5p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24655788
MIRT053233	hsa-miR-199a-5p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24655788
MIRT445349	hsa-miR-3163	PAR-CLIP	22100165
MIRT736849	hsa-miR-34a-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR	33438362
MIRT445349	hsa-miR-3163	PAR-CLIP	22100165
MIRT1095476	hsa-miR-105	CLIP-seq
MIRT1095477	hsa-miR-298	CLIP-seq
MIRT1095478	hsa-miR-3613-3p	CLIP-seq
MIRT1095479	hsa-miR-3655	CLIP-seq
MIRT1095480	hsa-miR-371b-5p	CLIP-seq
MIRT1095481	hsa-miR-3973	CLIP-seq
MIRT1095482	hsa-miR-4307	CLIP-seq
MIRT1095483	hsa-miR-4700-3p	CLIP-seq
MIRT1095484	hsa-miR-4777-5p	CLIP-seq
MIRT1095485	hsa-miR-518d-5p	CLIP-seq
MIRT1095486	hsa-miR-519b-5p	CLIP-seq
MIRT1095487	hsa-miR-519c-5p	CLIP-seq
MIRT1095488	hsa-miR-520c-5p	CLIP-seq
MIRT1095489	hsa-miR-520g	CLIP-seq
MIRT1095490	hsa-miR-520h	CLIP-seq
MIRT1095491	hsa-miR-526a	CLIP-seq
MIRT1095492	hsa-miR-548c-3p	CLIP-seq
MIRT1095493	hsa-miR-629	CLIP-seq
MIRT1095476	hsa-miR-105	CLIP-seq
MIRT2025653	hsa-miR-3684	CLIP-seq
MIRT2025654	hsa-miR-3919	CLIP-seq
MIRT1095482	hsa-miR-4307	CLIP-seq
MIRT2025655	hsa-miR-4756-3p	CLIP-seq
MIRT1095484	hsa-miR-4777-5p	CLIP-seq
MIRT1095485	hsa-miR-518d-5p	CLIP-seq
MIRT1095486	hsa-miR-519b-5p	CLIP-seq
MIRT1095487	hsa-miR-519c-5p	CLIP-seq
MIRT1095488	hsa-miR-520c-5p	CLIP-seq
MIRT1095491	hsa-miR-526a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HMGA1	Activation	15378028

Gene ontology (GO) Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003085	Process	Negative regulation of systemic arterial blood pressure	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004566	Function	Beta-glucuronidase activity	IEA
GO:0005104	Function	Fibroblast growth factor receptor binding	IBA
GO:0005104	Function	Fibroblast growth factor receptor binding	IEA
GO:0005179	Function	Hormone activity	IEA
GO:0005499	Function	Vitamin D binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	TAS	11792841
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9464267
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006112	Process	Energy reserve metabolic process	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008422	Function	Beta-glucosidase activity	TAS	9363890
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0014823	Process	Response to activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	11792841
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0017134	Function	Fibroblast growth factor binding	IBA
GO:0017134	Function	Fibroblast growth factor binding	IEA
GO:0017134	Function	Fibroblast growth factor binding	IPI	18829467
GO:0030501	Process	Positive regulation of bone mineralization	IMP	12110410
GO:0033280	Process	Response to vitamin D	IEA
GO:0042421	Process	Norepinephrine biosynthetic process	IEA
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071774	Process	Response to fibroblast growth factor	IEA
GO:0090080	Process	Positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA
GO:1990776	Process	Response to angiotensin	IEA

Other IDs

• MIM: 604824
• HGNC: 6344
• e!Ensembl: ENSG00000133116

Protein

• UniProt ID: Q9UEF7
• Protein name: Klotho (EC 3.2.1.31) [Cleaved into: Klotho peptide]
• Protein function: May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calci
• PDB: 5W21 , 7YSH , 7YSU , 7YSW , 8TOH , 8UF8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00232	Glyco_hydro_1	57 → 381	Glycosyl hydrolase family 1	Domain
  PF00232	Glyco_hydro_1	515 → 953	Glycosyl hydrolase family 1	Domain
  PF00232	Glyco_hydro_1	378 → 506	Glycosyl hydrolase family 1	Domain

• Tissue specificity: TISSUE SPECIFICITY: Present in cortical renal tubules (at protein level). Soluble peptide is present in serum and cerebrospinal fluid. Expressed in kidney, placenta, small intestine and prostate. Down-regulated in renal cell carcinomas, hepatocellular car
• Sequence:

  MPASAPPRRPRPPPPSLSLLLVLLGLGGRRLRAEPGDGAQTWARFSRPPAPEAAGLFQGT
  FPDGFLWAVGSAAYQTEGGWQQHGKGASIWDTFTHHPLAPPGDSRNASLPLGAPSPLQPA
  TGDVASDSYNNVFRDTEALRELGVTHYRFSISWARVLPNGSAGVPNREGLRYYRRLLERL
  RELGVQPVVTLYHWDLPQRLQDAYGGWANRALADHFRDYAELCFRHFGGQVKYWITIDNP
  YVVAWHGYATGRLAPGIRGSPRLGYLVAHNLLLAHAKVWHLYNTSFRPTQGGQVSIALSS
  HWINPRRMTDHSIKECQKSLDFVLGWFAKPVFIDGDYPESMKNNLSSILPDFTESEKKFI
  KGTADFFALCFGPTLSFQLLDPHMKFRQLESPNLRQLLSWIDLEFNHPQIFIVENGWFVS
  GTTKRDDAKYMYYLKKFIMETLKAIKLDGVDVIGYTAWSLMDGFEWHRGYSIRRGLFYVD
  FLSQDKMLLPKSSALFYQKLIEKNGFPPLPENQPLEGTFPCDFAWGVVDNYIQVDTTLSQ
  FTDLNVYLWDVHHSKRLIKVDGVVTKKRKSYCVDFAAIQPQIALLQEMHVTHFRFSLDWA
  LILPLGNQSQVNHTILQYYRCMASELVRVNITPVVALWQPMAPNQGLPRLLARQGAWENP
  YTALAFAEYARLCFQELGHHVKLWITMNEPYTRNMTYSAGHNLLKAHALAWHVYNEKFRH
  AQNGKISIALQADWIEPACPFSQKDKEVAERVLEFDIGWLAEPIFGSGDYPWVMRDWLNQ
  RNNFLLPYFTEDEKKLIQGTFDFLALSHYTTILVDSEKEDPIKYNDYLEVQEMTDITWLN
  SPSQVAVVPWGLRKVLNWLKFKYGDLPMYIISNGIDDGLHAEDDQLRVYYMQNYINEALK
  AHILDGINLCGYFAYSFNDRTAPRFGLYRYAADQFEPKASMKHYRKIIDSNGFPGPETLE
  RFCPEEFTVCTECSFFHTRKSLLAFIAFLFFASIISLSLIFYYSKKGRRSYK

• Sequence length: 1012

Pathways

KEGG Pathway	Reactome Pathway
Pentose and glucuronate interconversions	PI3K Cascade
Ascorbate and aldarate metabolism	PIP3 activates AKT signaling
Metabolic pathways	FGFR1c and Klotho ligand binding and activation
Longevity regulating pathway	Constitutive Signaling by Aberrant PI3K in Cancer
Parathyroid hormone synthesis, secretion and action	Phospholipase C-mediated cascade: FGFR1
Endocrine and other factor-regulated calcium reabsorption	Downstream signaling of activated FGFR1
	SHC-mediated cascade:FGFR1
	PI-3K cascade:FGFR1
	FRS-mediated FGFR1 signaling
	Negative regulation of FGFR1 signaling
	RAF/MAP kinase cascade
	PI5P, PP2A and IER3 Regulate PI3K/AKT 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)

Unknown / Other Associations Show/Hide Unknown Diseases (42)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Amenorrhea	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	9363890	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	17710231	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL EMBOLISM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD	12669274	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	28869590	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	26305897	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMPHYSEMA	—	CTD	9363890	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	Uncertain significance	ClinVar Orphanet	17710231, 22142751	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA	—	CTD, Disgenet CTD, Disgenet	17710231	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA, IDIOPATHIC, OF INFANCY	—	CTD	20394945	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA, INFANTILE, 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIC TUMORAL CALCINOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCIURIA, CHILDHOOD IDIOPATHIC	—	CTD, Disgenet CTD, Disgenet	20394945	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY	—	CTD	9363890	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL EMBOLISM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	23665422	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KL-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	25309793	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	25309793, 25550330	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	9363890	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	9363890	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tumoral calcinosis, hyperphosphatemic, familial, 1	Conflicting classifications of pathogenicity; Benign	ClinVar GWAS catalog	17710231, 22142751	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tumoral calcinosis, hyperphosphatemic, familial, 3	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, GWAS catalog, HPO ClinVar, GWAS catalog, HPO	17710231	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	28869590, 30054458, 30297969, 32499647, 32514122, 32541925, 34594039, 34737425, 35551307, 38374256, 38685053, 39024449, 39379762	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (366)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	Pubtator	22452701	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	23648743, 30818110		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31312351, 31737221		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26209729		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	21571866		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18682507, 24939736		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	28153033		★☆☆☆☆ Found in Text Mining only
Adult Learning Disorders	Learning Disorders	CTD_human_DG	25309793		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	25309793, 25550330		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24211693, 27714549, 29352444, 30867273, 31745181, 32347987, 33427737, 34697589, 35617280, 36314202, 36413367, 37107675	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32282020, 34158479, 40112321	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	29768278		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	28837861		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	35617280	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31250273		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32347987	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29179433, 29250136		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	15638863, 15784727	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	15638863, 16567954		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24745611		★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	22248532, 29581213		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11016890, 12669274, 16579981, 16979405, 19119257, 19121771, 19246844, 19367378, 20005218, 20345435, 22045427, 23147162, 23993164, 27576165, 28264799, 28407763, 28657902, 28963437, 29274997, 30010839, 30064142, 31055648, 31773386, 31801144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	Pubtator	12669274, 19119257	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	CTD_human_DG	9363890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	Pubtator	30299251	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20738421	Inhibit	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	12669274, 19246844, 21769735, 22045427, 26289053, 26538295, 28407763, 35590090, 37274332, 39182114	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16579981, 16979405, 19121771, 19246844, 19367378, 20345435, 22045427, 23147162, 23993164, 27576165, 28264799, 28407763, 28963437, 29274997, 30010839, 30064142, 31055648, 31773386, 31801144		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16979405		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23431388, 34354161	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30138898		★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	22042362		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37580799	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31039387		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	30109514		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	30109514		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	27576165, 28806578		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29731962		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	12369777, 32236867, 33272153	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	18756295, 27838783, 29558205		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	12369777, 18465812, 27910102, 30887870, 33272153	Associate	★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	29846497		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19802015, 21529984, 21571866, 22042362, 22212556, 26113466, 26152288, 26531219, 29344186, 31507133		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12819009, 21523445, 22212556, 22647880, 25725373	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26152288, 31507133	Inhibit	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	18982401, 19246844, 19865099, 27164190, 33219692	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	20482749, 32897222	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	26152288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23516476	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34787087	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29731962		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20642846, 22922788, 23437382, 29142604, 29675106, 29948618		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	39199335	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23433103, 37726833, 37919459	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28596300	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36355420	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18259951, 19802015, 22212556, 25827069, 28259911		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28115282, 28131398, 29849175		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	29849175	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28982613, 31422095		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16957409, 16979405, 21565945, 21629994, 23993164, 26538295, 27215557, 27576165, 28131398, 28535521, 28651327, 28795324, 29313136, 29394451, 29506503, 29604296, 30004089, 30059845, 30367019, 30633899, 30671457, 30934737, 31025926, 31185930		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21565945, 26538295, 30595559, 31520610, 31760884, 33225726	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23431388, 27696667, 31542779, 33458837, 34354161	Inhibit	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	37274332	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	20345435		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	29846497		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31070492		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	31398214		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27576165, 28076518, 30048945, 30595559, 31070492, 31344366		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	19119257, 30791885	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	30791885		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20482749, 21523445, 26209729		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	20482749, 21523445, 22710352, 26209729		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	23533570	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 2	Kidney Disease	BEFREE	27125746, 28115282, 30348110		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 3	Kidney Disease	BEFREE	30689182		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23298834, 23993164, 24224012, 25766835, 27766038, 28157067, 29313136, 29851418, 30537427, 30689182, 9731228		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19626341, 20150940, 20606417, 21115613, 21496980, 21629994, 21778753, 21859400, 21985788, 22338084, 22660551, 23611556, 23634661, 23652554, 24224012, 24466013, 25498378, 25766835, 26880455, 27125746, 27215557, 27226196, 27450645, 27692562, 27760772, 27766038, 27838783, 28115282, 28131398, 28157067, 28232146, 28264799, 28315683, 28396120, 28416226, 28535521, 28771600, 29061648, 29190606, 29197521, 29250136, 29313136, 29352444, 29425318, 29425341, 29481636, 29506503, 29800324, 29843135, 29851201, 29851418, 29866645, 29948444, 29959497, 30010839, 30079760, 30159331, 30208590, 30348110, 30367019, 30396210, 30396700, 30581063, 30592280, 30801205, 30943913, 31071222, 31185930, 31207307, 31275449, 31430745, 31505229, 31519772, 31520610, 31575945, 31708378, 31709849, 31793871, 9731228		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26385922, 29748308, 30686068		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30860544		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	16262891		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24211693, 26297657, 26405063, 26732817, 32282020, 33427737, 34158479, 34219715, 35617280, 37107675	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	24813892, 25673831, 27125744, 29163135, 30851437		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	26197428	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23634661		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21523445, 29884183		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25388238, 34790819	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21523445, 24852431, 26261651, 29884183, 30232408, 31545552		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21523445, 29884183	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24852431, 25388238, 26261651, 30612312, 31545552, 32897222, 36807774	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	30232408		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29849175, 30773798		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29928482, 29940774		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	12669274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	12669274, 15677572, 16579981, 16979405, 23993164, 24165855, 26538295, 28076518, 30048945, 30547758, 30671457, 30773798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	12669274, 15677572, 16262891, 16579981, 16979405, 19246844, 22045427, 23993164, 24165855, 26538295, 28076518, 30048945, 30547758, 30671457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	12669274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	12669274, 15677572, 19246844, 22045427, 26538295, 30547758, 33303310	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	12669274, 15677572, 16579981, 16979405, 23993164, 24165855, 26538295, 28076518, 30048945, 30547758, 30671457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Stenosis	Coronary stenosis	Pubtator	19246844	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	19246844		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	32927759	Inhibit	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17270470, 18465812, 19442276, 29920476		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	17270470		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28539162, 29154273		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	29768278		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	27125744, 29352444		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	29352444, 32347987	Associate	★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	BEFREE	31693974		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27576165, 29274997, 29978424, 30121652, 31055648, 31760473		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30481165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	9363890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	21593200, 23945089, 26538295, 28651327, 28657902, 28993191, 29247834, 29541926, 29866645, 30048945, 30620382, 31185930		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36325267	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21593200, 23945089, 26538295, 28651327, 28657902, 28993191, 29247834, 29541926, 29866645, 30048945, 30620382, 31185930		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	26538295, 29247834, 33225726, 35992154	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29247834, 32435919	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23711492, 36140700	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28194484, 29247834, 30620382		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16753056, 23945089, 27916483, 29866645, 30042059, 30048945, 30987161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	28869590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	31422095		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic Foot	BEFREE	30987161		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30762931	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36942605	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22217880, 26586006, 26813039, 28411025, 28929120, 29308676, 29541926, 29623952, 29866645, 29890551, 30396700, 30605400, 30668400, 30784349, 31207271, 31208912		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	29247834, 33225726	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	31197979	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31197979		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28153033		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31350855		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	30872092		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	32517728	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	30130550		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34697589	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	23634661	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	18259951, 25827069		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	20005218, 27215557		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	34145100	Associate	★☆☆☆☆ Found in Text Mining only
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome	Hyperphosphatemic Tumoral Calcinosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	28501532		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	34110636	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	34839623	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	23840612	Associate	★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	26531219		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31228703		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39796185	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	29693450		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	30887870	Associate	★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	23648743		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19119257, 27696667, 29849175	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30934737		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30773798		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28656297		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	19890272	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	31520610	Inhibit	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	19690404, 31647290		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19690404, 31647290		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	16775459, 22285620, 29977226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	CTD_human_DG	17710231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia, Idiopathic, of Infancy	Hypercalcemia	CTD_human_DG	20394945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalciuria, childhood idiopathic	Hypercalciuria	CTD_human_DG	20394945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	23945089, 28982613		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	36140700	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	11016890, 26806457, 30084918		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	28387374, 31135568		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	33272153	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	19890272, 23552627	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	18682507, 29056164, 31309599		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	LHGDN	18682507		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	19890272, 30594298		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	12771308, 15930998, 16775459, 18308935, 19626341, 19952276, 21346722, 21406293, 21496980, 22285620, 23298834, 25165185, 25498378, 27837149, 28515153, 28795324, 29190606, 29780355, 29993278, 30133162, 31013726		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	CTD_human_DG	17710231		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26634510, 30547758, 30595559, 31992575	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10892340, 20345435, 26634510, 26880028, 26972301, 27620389, 27693241, 28651327, 28993502, 30354813, 30547758, 31094281, 31295336, 31446221, 31630227, 9731228		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	26880028	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	26681731	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	29195509		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	19952276		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29380911		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31042083		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	23147162, 27951565		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24813892, 26405063, 26732817, 27125744, 27687042, 28837861, 29154273, 29163135, 29195509, 29274997, 30633899, 30716541, 30791885, 30851437, 31055648		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21672148, 36325267	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	28993191		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	26152288		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	16973281, 21093413, 23993164, 29403373, 31070492		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	21422754, 23756195		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	20606417, 23611556, 23945089, 25504369, 27692562, 28315683, 28993191, 30551370, 30718148, 31273547, 31772699		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	21852584, 24459137, 29046474, 29767399, 32571212, 34110636	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	CTD_human_DG	23665422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	18308935, 28183805, 29697410		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	19419323, 20466664, 21859400, 22452701, 25200959	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	24224012	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	19745103, 20861825, 21116272, 22660551, 26280899, 27759760, 27760772, 28131398, 28157067, 28347910, 28848432, 29497318, 29550818, 29608890, 30239382, 30358003, 30516423, 30606408, 31039387, 31309036, 31315593, 31411071, 31680971		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	12771308, 16358222, 23298834, 23993164, 24224012, 25766835, 27766038, 28157067, 29313136, 29851418, 30537427, 9731228		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	12771308		★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	BEFREE	31360195		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	25309793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	25309793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disturbance	Learning Disorders	CTD_human_DG	25309793		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	21985788, 28294047, 28651327, 28900153, 28993502, 29313136, 29621747, 29977226, 30671457, 31187426, 31309036, 31758962		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25759982	Associate	★☆☆☆☆ Found in Text Mining only
Lipoid nephrosis	Lipoid Nephrosis	BEFREE	22217880		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	30441794		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	30441794		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23123137, 23248036, 23516476, 26237271		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	23516476, 30860544		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	23516476	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	36371078	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23516476, 26237271		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20642846	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29948618, 34016959	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37213666	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30316188		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	37213666	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	35543385	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	26843110, 27576165, 29274997, 29978424, 31693974		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19802015, 21529984, 21571866, 22042362, 22212556, 26113466, 26152288, 26531219, 29344186, 31507133		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	29928482, 31228703		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26499380		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20642846, 22922788, 23437382, 29142604, 29675106, 29948618		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18259951, 19802015, 22212556, 28259911		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21571866, 22212556, 30014891		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25120167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26531219, 30699231		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29731962		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18259951, 19802015, 21209102, 21523445, 22212556, 22660551, 22710352, 23248036, 23437382, 23818104, 23828695, 25038521, 25120167, 25827069, 26113466, 26209729, 26237271, 27125743, 28232477, 28259911, 28303350, 28656297, 28709936, 29142604, 29352444, 29372030, 29731962, 29775618, 29948618, 30232408, 30860544, 31127658, 31507133		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20482749, 21523445, 26209729		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21523445, 29884183		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	25080854, 26280899		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18762812		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22042362, 26152288, 27766889		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	28806578		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20955350, 27779100, 28232477		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	25309793, 25550330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory disorders	Pubtator	30595559, 34158479	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory dysfunction	Memory Disorders	BEFREE	30574980		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27576165, 29274997, 29978424, 30121652, 31055648, 31760473		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	10892340, 28501532, 28901272, 30537427		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	23711492, 34839623	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26880028, 30872092, 35053218	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21376714, 26880028, 30943913		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	26197428, 30445127		★☆☆☆☆ Found in Text Mining only
Milk-Alkali Syndrome	Milk-Alkali Syndrome	CTD_human_DG	17710231		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	25944690		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	28806578, 29274997, 31055648		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25944690		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22924505, 27125744, 28991703, 29352444, 29542092		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29352444, 32347987	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28991703		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	27154199		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	27154199, 29040534		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28076518		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	28076518, 32444684	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	16579981, 30773798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	BEFREE	29040534		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	20466664	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11043382, 18259951, 19802015, 20482749, 20642846, 21075474, 21523445, 21529984, 21571866, 22042362, 22212556, 22237753, 22710352, 22922788, 23123137, 23248036, 23516476, 23828695, 24124751, 24745611, 24852431, 25827069, 25988292, 26113466, 26152288, 26209729, 26237271, 26499380, 27125743, 27576165, 27779100, 28153033, 28259911, 28656297, 28709936, 29344186, 29731962, 29884183, 29948618, 30232408, 30441794, 30699231, 31228703, 31507133		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	21422754, 23756195		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis Calcium Oxalate	Nephrolithiasis	Pubtator	28116736	Associate	★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	BEFREE	23756195		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30130550		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23634661, 29352444, 32347987, 36314202	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25673831, 27125744, 27859240, 29352444, 30062646		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29675106, 31707148		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22641000, 29648999, 30483154		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23711492, 35053218	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	35053218	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17270470, 18465812	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	18465812	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	18465812		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	LHGDN	18465812		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	10892339, 12110410, 16358222, 18465812, 26022923, 28387374, 29665846, 30189026		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	10892339, 12110410, 15536520, 27576165, 28232146, 29665846, 30671592, 31135568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	21769735, 32444684, 33272153, 38294754	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	29712948	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	CTD_human_DG	9363890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	9363890		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	9363890		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	33153705	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31310795		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18259951, 19802015, 22212556, 28259911		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21571866, 30014891		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	18682507		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	29618612		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29107062		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32347987	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28628270, 30868770		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	31116709		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	31116709	Inhibit	★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	BEFREE	25618772, 28515153, 30209259		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	29767399	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	22193235, 27450645, 27733443		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28673204		★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	30250850		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	9363890		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30872092		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30773798		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	14528024, 16179415, 16731043, 16957409, 19444937, 19626341, 20482749, 21346722, 22248532, 22660551, 23516476, 27292223, 28673754, 28806578, 29195509, 29493420, 31228703		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	CTD_human_DG	25550330, 9363890		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31310795		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28539162, 29154273		★☆☆☆☆ Found in Text Mining only
Priapism	Priapism	BEFREE	15638863, 17408468		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	24172191		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25120167		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29380911		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26100223, 30686068, 37065635	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38110986	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	10615062, 11016890, 9363890		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28428174, 30870716		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29940774		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	21209102, 22200425, 22338084, 26444031, 27125746, 27510836, 27796696, 27951565, 27979597, 28285987, 28411025, 28709936, 28848432, 29187373, 29590173, 29928482, 30090949, 30158531, 30251773, 30483154, 30806715, 30853453		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	23665422, 24459137, 29497318		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28347910		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29247834, 31197979		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17202338, 19442276, 31025926		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	21346722		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	21769735, 32444684	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28673754, 30896269		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	28540270, 28831601		★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	29590173	Inhibit	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30134544, 30239382, 30516423, 30860544, 31309036		★☆☆☆☆ Found in Text Mining only
Severe depression	Mental Depression	BEFREE	29274997		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31094281		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	30872092		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	21529984, 29142604		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	27693241		★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	23634661	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26209729, 28303350		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29142604		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28812223, 30863149		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18158559, 24655788, 33499704, 37915566	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	15677572, 30595559, 32444684	Associate	★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	CTD_human_DG	9363890		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28183357, 28540270, 28831601, 28912623		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	28656297		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	19119257	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	26531219		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26531219, 30699231		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26531219, 30699231		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26556877		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	BEFREE	17710231		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	17710231		★☆☆☆☆ Found in Text Mining only
Tumoral Calcinosis Hyperphosphatemic Familial	Tumoral calcinosis	Pubtator	18982401, 19865099, 26418500, 27164190, 30015621	Associate	★☆☆☆☆ Found in Text Mining only
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	Tumoral calcinosis	ORPHANET_DG	17710231, 22142751		★☆☆☆☆ Found in Text Mining only
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	Tumoral calcinosis	BEFREE	25656441, 27164190, 30015621, 30226830		★☆☆☆☆ Found in Text Mining only
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1	Tumoral calcinosis	ORPHANET_DG	17710231, 22142751		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1	Tumoral calcinosis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3	Tumoral calcinosis	CLINVAR_DG	17710231		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3	Tumoral calcinosis	UNIPROT_DG	17710231		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3	Tumoral calcinosis	GENOMICS_ENGLAND_DG	17710231		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Turner Syndrome	Turner syndrome	Pubtator	30887870	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	26843110, 27576165, 29274997, 29978424		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	22237753, 28701312, 29056164		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	26597587, 30633899		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	20482749	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	23431388	Inhibit	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	26418500, 30791885, 33219692	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	15784727, 19119257, 27034587, 32435919	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16973281, 27125746, 31070492, 31546756		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	28407763	Inhibit	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	19119257, 26538295	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	21346722		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	19952276, 27306296, 28501532		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FGF23 4 shared diseasesCalcinosis, Hyperphosphatemic tumoral calcinosis, Hypercalcemic tumoral calcinosis, Tumoral calcinosis 13 shared pathwaysParathyroid hormone synthesis, secretion and action, PIP3 activates AKT signaling, RAF/MAP kinase cascade, Constitutive Signaling by Aberrant PI3K in Cancer, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, FRS-mediated FGFR1 signaling, PI3K Cascade, PI-3K cascade:FGFR1, Negative regulation of FGFR1 signaling, Phospholipase C-mediated cascade: FGFR1, Downstream signaling of activated FGFR1, SHC-mediated cascade:FGFR1 +1 more 6 shared evidence sourcesCTD (Calcinosis), Orphanet (Hyperphosphatemic tumoral calcinosis), Disgenet (Hypercalcemic tumoral calcinosis), GWAS catalog (Tumoral calcinosis), ClinVar (Tumoral calcinosis), HPO (Tumoral calcinosis) Related via 13 shared pathways including Parathyroid hormone synthesis, secretion and action, PIP3 activates AKT signaling — evidence mostly CTD. GALNT3 5 shared diseasesCalcinosis, Hyperphosphatemic tumoral calcinosis, Hypercalcemic tumoral calcinosis, Osteoporosis, Tumoral calcinosis 6 shared evidence sourcesCTD (Calcinosis), Orphanet (Hyperphosphatemic tumoral calcinosis), Disgenet (Hypercalcemic tumoral calcinosis), GWAS catalog (Tumoral calcinosis), ClinVar (Tumoral calcinosis), HPO (Tumoral calcinosis) Related via 5 shared diseases including Calcinosis, Hyperphosphatemic tumoral calcinosis — evidence mostly CTD. CYP24A1 5 shared diseasesDiabetic neuropathy, Hypercalciuria, Hypercalcemia, Idiopathic infantile hypercalcemia, Osteoporosis 1 shared pathwayParathyroid hormone synthesis, secretion and action 8 shared evidence sourcesGWAS catalog (Diabetic neuropathy), CTD (Hypercalcemia), Disgenet (Hypercalcemia), CTD (Idiopathic infantile hypercalcemia), Disgenet (Idiopathic infantile hypercalcemia), CTD (Hypercalciuria), Disgenet (Osteoporosis), CTD (Osteoporosis) Related via 5 shared diseases including Diabetic neuropathy, Hypercalciuria — evidence mostly CTD. IRS1 2 shared diseasesIschemic heart disease, Diabetes mellitus 6 shared pathwaysLongevity regulating pathway, PIP3 activates AKT signaling, RAF/MAP kinase cascade, Constitutive Signaling by Aberrant PI3K in Cancer, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, PI3K Cascade 5 shared evidence sourcesDisgenet (Ischemic heart disease), Disgenet (Coronary artery disease), CTD (Coronary artery disease), Disgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2) Related via 6 shared pathways including Longevity regulating pathway, PIP3 activates AKT signaling — evidence mostly Disgenet. PTH 3 shared diseasesHypercalciuria, Hypercalcemia, Osteoporosis 2 shared pathwaysParathyroid hormone synthesis, secretion and action, Endocrine and other factor-regulated calcium reabsorption 6 shared evidence sourcesDisgenet (Diabetes mellitus type 2), CTD (Hypercalcemia), Disgenet (Hypercalcemia), CTD (Hypercalciuria), Disgenet (Osteoporosis), CTD (Osteoporosis) Related via 3 shared diseases including Hypercalciuria, Hypercalcemia — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FGF23	4	["Calcinosis","Hyperphosphatemic tumoral calcinosis","Hypercalcemic tumoral calcinosis","Tumoral calcinosis"]	13	["Parathyroid hormone synthesis, secretion and action","PIP3 activates AKT signaling","RAF\/MAP kinase cascade","Constitutive Signaling by Aberrant PI3K in Cancer","PI5P, PP2A and IER3 Regulate PI3K\/AKT Signaling","FRS-mediated FGFR1 signaling","PI3K Cascade","PI-3K cascade:FGFR1","Negative regulation of FGFR1 signaling","Phospholipase C-mediated cascade: FGFR1","Downstream signaling of activated FGFR1","SHC-mediated cascade:FGFR1"]	6	["CTD (Calcinosis)","Orphanet (Hyperphosphatemic tumoral calcinosis)","Disgenet (Hypercalcemic tumoral calcinosis)","GWAS catalog (Tumoral calcinosis)","ClinVar (Tumoral calcinosis)","HPO (Tumoral calcinosis)"]
GALNT3	5	["Calcinosis","Hyperphosphatemic tumoral calcinosis","Hypercalcemic tumoral calcinosis","Osteoporosis","Tumoral calcinosis"]	0	[]	6	["CTD (Calcinosis)","Orphanet (Hyperphosphatemic tumoral calcinosis)","Disgenet (Hypercalcemic tumoral calcinosis)","GWAS catalog (Tumoral calcinosis)","ClinVar (Tumoral calcinosis)","HPO (Tumoral calcinosis)"]
CYP24A1	5	["Diabetic neuropathy","Hypercalciuria","Hypercalcemia","Idiopathic infantile hypercalcemia","Osteoporosis"]	1	["Parathyroid hormone synthesis, secretion and action"]	8	["GWAS catalog (Diabetic neuropathy)","CTD (Hypercalcemia)","Disgenet (Hypercalcemia)","CTD (Idiopathic infantile hypercalcemia)","Disgenet (Idiopathic infantile hypercalcemia)","CTD (Hypercalciuria)","Disgenet (Osteoporosis)","CTD (Osteoporosis)"]
IRS1	2	["Ischemic heart disease","Diabetes mellitus"]	6	["Longevity regulating pathway","PIP3 activates AKT signaling","RAF\/MAP kinase cascade","Constitutive Signaling by Aberrant PI3K in Cancer","PI5P, PP2A and IER3 Regulate PI3K\/AKT Signaling","PI3K Cascade"]	5	["Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)","Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)"]
PTH	3	["Hypercalciuria","Hypercalcemia","Osteoporosis"]	2	["Parathyroid hormone synthesis, secretion and action","Endocrine and other factor-regulated calcium reabsorption"]	6	["Disgenet (Diabetes mellitus type 2)","CTD (Hypercalcemia)","Disgenet (Hypercalcemia)","CTD (Hypercalciuria)","Disgenet (Osteoporosis)","CTD (Osteoporosis)"]

Diseases Linked via Similar Genes

Scoliosis Linked via 2 of 5 related genesFGF23, IRS1 Attention deficit hyperactivity disorder Linked via 2 of 5 related genesGALNT3, CYP24A1 Autism Linked via 2 of 5 related genesGALNT3, CYP24A1 Colorectal cancer Linked via 2 of 5 related genesGALNT3, CYP24A1 Prostatic neoplasms Linked via 2 of 5 related genesGALNT3, IRS1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Scoliosis	2	["FGF23","IRS1"]
Attention deficit hyperactivity disorder	2	["GALNT3","CYP24A1"]
Autism	2	["GALNT3","CYP24A1"]
Colorectal cancer	2	["GALNT3","CYP24A1"]
Prostatic neoplasms	2	["GALNT3","IRS1"]