RPTOR (regulatory associated protein of MTOR complex 1)

Gene

• Entrez ID: 57521
• Gene name: Regulatory associated protein of MTOR complex 1
• Gene symbol: RPTOR
• Synonyms (NCBI Gene): KOG1, Mip1
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-b

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050023	hsa-miR-27a-3p	CLASH	23622248
MIRT046186	hsa-miR-27b-3p	CLASH	23622248
MIRT1319074	hsa-miR-1225-3p	CLIP-seq
MIRT1319075	hsa-miR-125a-5p	CLIP-seq
MIRT1319076	hsa-miR-125b	CLIP-seq
MIRT1319077	hsa-miR-129-3p	CLIP-seq
MIRT1319078	hsa-miR-1908	CLIP-seq
MIRT1319079	hsa-miR-2278	CLIP-seq
MIRT1319080	hsa-miR-23a	CLIP-seq
MIRT1319081	hsa-miR-23b	CLIP-seq
MIRT1319082	hsa-miR-23c	CLIP-seq
MIRT1319083	hsa-miR-2861	CLIP-seq
MIRT1319084	hsa-miR-3064-5p	CLIP-seq
MIRT1319085	hsa-miR-3127-3p	CLIP-seq
MIRT1319086	hsa-miR-3144-5p	CLIP-seq
MIRT1319087	hsa-miR-3151	CLIP-seq
MIRT1319088	hsa-miR-3153	CLIP-seq
MIRT1319089	hsa-miR-3180	CLIP-seq
MIRT1319090	hsa-miR-3180-3p	CLIP-seq
MIRT1319091	hsa-miR-3180-5p	CLIP-seq
MIRT1319092	hsa-miR-3186-3p	CLIP-seq
MIRT1319093	hsa-miR-3191	CLIP-seq
MIRT1319094	hsa-miR-3196	CLIP-seq
MIRT1319095	hsa-miR-323-3p	CLIP-seq
MIRT1319096	hsa-miR-3652	CLIP-seq
MIRT1319097	hsa-miR-3937	CLIP-seq
MIRT1319098	hsa-miR-4270	CLIP-seq
MIRT1319099	hsa-miR-4319	CLIP-seq
MIRT1319100	hsa-miR-4417	CLIP-seq
MIRT1319101	hsa-miR-4430	CLIP-seq
MIRT1319102	hsa-miR-4437	CLIP-seq
MIRT1319103	hsa-miR-4441	CLIP-seq
MIRT1319104	hsa-miR-4447	CLIP-seq
MIRT1319105	hsa-miR-4472	CLIP-seq
MIRT1319106	hsa-miR-4488	CLIP-seq
MIRT1319107	hsa-miR-4505	CLIP-seq
MIRT1319108	hsa-miR-4641	CLIP-seq
MIRT1319109	hsa-miR-4651	CLIP-seq
MIRT1319110	hsa-miR-4652-5p	CLIP-seq
MIRT1319111	hsa-miR-4674	CLIP-seq
MIRT1319112	hsa-miR-4685-5p	CLIP-seq
MIRT1319113	hsa-miR-4690-3p	CLIP-seq
MIRT1319114	hsa-miR-4697-5p	CLIP-seq
MIRT1319115	hsa-miR-4731-5p	CLIP-seq
MIRT1319116	hsa-miR-4732-3p	CLIP-seq
MIRT1319117	hsa-miR-4746-3p	CLIP-seq
MIRT1319118	hsa-miR-4747-5p	CLIP-seq
MIRT1319119	hsa-miR-4781-5p	CLIP-seq
MIRT1319120	hsa-miR-4786-3p	CLIP-seq
MIRT1319121	hsa-miR-4786-5p	CLIP-seq
MIRT1319122	hsa-miR-486-3p	CLIP-seq
MIRT1319123	hsa-miR-491-5p	CLIP-seq
MIRT1319124	hsa-miR-520a-5p	CLIP-seq
MIRT1319125	hsa-miR-525-5p	CLIP-seq
MIRT1319126	hsa-miR-541	CLIP-seq
MIRT1319127	hsa-miR-608	CLIP-seq
MIRT1319128	hsa-miR-654-5p	CLIP-seq
MIRT1319129	hsa-miR-662	CLIP-seq
MIRT1319130	hsa-miR-663	CLIP-seq
MIRT1319131	hsa-miR-670	CLIP-seq
MIRT1319132	hsa-miR-671-5p	CLIP-seq
MIRT1319133	hsa-miR-885-3p	CLIP-seq
MIRT1553187	hsa-miR-149	CLIP-seq
MIRT1319120	hsa-miR-4786-3p	CLIP-seq
MIRT1319075	hsa-miR-125a-5p	CLIP-seq
MIRT1319076	hsa-miR-125b	CLIP-seq
MIRT1319080	hsa-miR-23a	CLIP-seq
MIRT1319081	hsa-miR-23b	CLIP-seq
MIRT1319082	hsa-miR-23c	CLIP-seq
MIRT1319083	hsa-miR-2861	CLIP-seq
MIRT1319084	hsa-miR-3064-5p	CLIP-seq
MIRT2094861	hsa-miR-3194-5p	CLIP-seq
MIRT1319096	hsa-miR-3652	CLIP-seq
MIRT1319099	hsa-miR-4319	CLIP-seq
MIRT2094862	hsa-miR-4323	CLIP-seq
MIRT1319101	hsa-miR-4430	CLIP-seq
MIRT2094863	hsa-miR-4449	CLIP-seq
MIRT1319107	hsa-miR-4505	CLIP-seq
MIRT2094864	hsa-miR-452	CLIP-seq
MIRT2094865	hsa-miR-4639-3p	CLIP-seq
MIRT2094866	hsa-miR-4676-3p	CLIP-seq
MIRT2094867	hsa-miR-4693-5p	CLIP-seq
MIRT1319126	hsa-miR-541	CLIP-seq
MIRT2094868	hsa-miR-619	CLIP-seq
MIRT1319128	hsa-miR-654-5p	CLIP-seq
MIRT2094869	hsa-miR-668	CLIP-seq
MIRT1319080	hsa-miR-23a	CLIP-seq
MIRT1319081	hsa-miR-23b	CLIP-seq
MIRT1319082	hsa-miR-23c	CLIP-seq
MIRT2458615	hsa-miR-1912	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU2F1	Unknown	21060808
RARA	Unknown	21060808

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0001558	Process	Regulation of cell growth	IMP	20381137
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0002181	Process	Cytoplasmic translation	IDA	8706699, 34314702
GO:0005515	Function	Protein binding	IPI	12150925, 12150926, 12408816, 17386266, 17461779, 17565979, 18337751, 18955708, 19446321, 19619545, 19875983, 20347422, 20543138, 20562859, 21045808, 21339740, 21471201, 21614075, 22424946, 23027611, 23263282, 23953116, 24036451, 24375676, 25446900, 25657994, 25686248, 25940091, 263
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20381137
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	20381137
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IMP	22424946
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	31601764
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006974	Process	DNA damage response	NAS	17041623
GO:0008361	Process	Regulation of cell size	IMP	12150925
GO:0009267	Process	Cellular response to starvation	IBA
GO:0009410	Process	Response to xenobiotic stimulus	ISS
GO:0010494	Component	Cytoplasmic stress granule	IDA	25940091
GO:0010506	Process	Regulation of autophagy	IBA
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010507	Process	Negative regulation of autophagy	NAS	28283069
GO:0010646	Process	Regulation of cell communication	IEA
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	18439900
GO:0023051	Process	Regulation of signaling	IEA
GO:0030291	Function	Protein serine/threonine kinase inhibitor activity	IDA	12718876
GO:0030295	Function	Protein kinase activator activity	IDA	12150926
GO:0030307	Process	Positive regulation of cell growth	IBA
GO:0030307	Process	Positive regulation of cell growth	IMP	18426977
GO:0030307	Process	Positive regulation of cell growth	NAS	25906254
GO:0030425	Component	Dendrite	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	12150926, 37541260
GO:0031267	Function	Small GTPase binding	IDA	26588989, 37541260
GO:0031669	Process	Cellular response to nutrient levels	IDA	29236692, 29750193, 31601708, 32561715
GO:0031669	Process	Cellular response to nutrient levels	IDA	12150926, 12747827, 32561715
GO:0031669	Process	Cellular response to nutrient levels	IMP	12150925
GO:0031669	Process	Cellular response to nutrient levels	NAS	19299511
GO:0031929	Process	TOR signaling	IDA	20381137
GO:0031929	Process	TOR signaling	IEA
GO:0031931	Component	TORC1 complex	IBA
GO:0031931	Component	TORC1 complex	IDA	12150926, 12718876, 15467718, 24036451, 24403073, 25940091, 26678875, 27909983, 29236692, 31601764
GO:0031931	Component	TORC1 complex	IEA
GO:0031931	Component	TORC1 complex	IPI	26678875
GO:0032008	Process	Positive regulation of TOR signaling	IDA	12150926, 18439900
GO:0035176	Process	Social behavior	ISS
GO:0038202	Process	TORC1 signaling	IBA
GO:0038202	Process	TORC1 signaling	IDA	12087098, 29750193
GO:0038202	Process	TORC1 signaling	IDA	12150926, 12747827, 24403073, 26588989, 30197302, 31112131, 32561715, 35927303
GO:0038202	Process	TORC1 signaling	IEA
GO:0038202	Process	TORC1 signaling	IMP	12718876
GO:0043025	Component	Neuronal cell body	IEA
GO:0044877	Function	Protein-containing complex binding	IPI	19211835
GO:0045672	Process	Positive regulation of osteoclast differentiation	ISS
GO:0045821	Process	Positive regulation of glycolytic process	NAS	20670887
GO:0045945	Process	Positive regulation of transcription by RNA polymerase III	IMP	20233713
GO:0045947	Process	Negative regulation of translational initiation	IDA	22578813
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0046889	Process	Positive regulation of lipid biosynthetic process	NAS	20670887
GO:0061462	Process	Protein localization to lysosome	IDA	31601708
GO:0065008	Process	Regulation of biological quality	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IBA
GO:0071230	Process	Cellular response to amino acid stimulus	IMP	20381137
GO:0071233	Process	Cellular response to L-leucine	IDA	22424946
GO:0071333	Process	Cellular response to glucose stimulus	IDA	37541260
GO:0071456	Process	Cellular response to hypoxia	NAS	17041623
GO:0071470	Process	Cellular response to osmotic stress	NAS	17041623
GO:0071889	Function	14-3-3 protein binding	IDA	18439900
GO:0140767	Function	Enzyme-substrate adaptor activity	IDA	12150926, 12747827, 24403073
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	18426977
GO:1901331	Process	Positive regulation of odontoblast differentiation	ISS
GO:1902554	Component	Serine/threonine protein kinase complex	IDA	26678875
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29236692, 31601708
GO:1905857	Process	Positive regulation of pentose-phosphate shunt	NAS	20670887

Other IDs

• MIM: 607130
• HGNC: 30287
• e!Ensembl: ENSG00000141564

Protein

• UniProt ID: Q8N122
• Protein name: Regulatory-associated protein of mTOR (Raptor) (p150 target of rapamycin (TOR)-scaffold protein)
• Protein function: Component of the mechanistic target of rapamycin complex 1 (mTORC1), an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:
• PDB: 5H64, 6BCU, 6BCX, 6SB0, 6SB2, 6U62, 7OWG, 7PEA, 7PEB, 7PEC, 7UX2, 7UXC, 7UXH, 8ERA, 8RCH, 8RCK, 8RCN, 9F42, 9F43, 9F44, 9F45
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14538	Raptor_N	55 → 206	Raptor N-terminal CASPase like domain	Domain
  PF02985	HEAT	602 → 630	HEAT repeat	Repeat
  PF00400	WD40	1156 → 1194	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in skeletal muscle, and in a lesser extent in brain, lung, small intestine, kidney and placenta. {ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12408816}.; TISSUE SPECIFICITY: [Isoform 3]: Widely expressed, with high
• Sequence:

  MESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSV
  ALVLCLNVGVDPPDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYK
  QSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNGEVWVFNKNYTQYIPLSIY
  DLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNC
  IQLAACEATELLPMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPG
  RLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLLVASLFRNFLLAERIMRSY
  NCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWL
  TMGVENRNPPEQLPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLALSVGIFPYVLKLL
  QSSARELRPLLVFIWAKILAVDSSCQADLVKDNGHKYFLSVLADPYMPAEHRTMTAFILA
  VIVNSYHTGQEACLQGNLIAICLEQLNDPHPLLRQWVAICLGRIWQNFDSARWCGVRDSA
  HEKLYSLLSDPIPEVRCAAVFALGTFVGNSAERTDHSTTIDHNVAMMLAQLVSDGSPMVR
  KELVVALSHLVVQYESNFCTVALQFIEEEKNYALPSPATTEGGSLTPVRDSPCTPRLRSV
  SSYGNIRAVATARSLNKSLQNLSLTEESGGAVAFSPGNLSTSSSASSTLGSPENEEHILS
  FETIDKMRRASSYSSLNSLIGVSFNSVYTQIWRVLLHLAADPYPEVSDVAMKVLNSIAYK
  ATVNARPQRVLDTSSLTQSAPASPTNKGVHIHQAGGSPPASSTSSSSLTNDVAKQPVSRD
  LPSGRPGTTGPAGAQYTPHSHQFPRTRKMFDKGPEQTADDADDAAGHKSFISATVQTGFC
  DWSARYFAQPVMKIPEEHDLESQIRKEREWRFLRNSRVRRQAQQVIQKGITRLDDQIFLN
  RNPGVPSVVKFHPFTPCIAVADKDSICFWDWEKGEKLDYFHNGNPRYTRVTAMEYLNGQD
  CSLLLTATDDGAIRVWKNFADLEKNPEMVTAWQGLSDMLPTTRGAGMVVDWEQETGLLMS
  SGDVRIVRIWDTDREMKVQDIPTGADSCVTSLSCDSHRSLIVAGLGDGSIRVYDRRMALS
  ECRVMTYREHTAWVVKASLQKRPDGHIVSVSVNGDVRIFDPRMPESVNVLQIVKGLTALD
  IHPQADLIACGSVNQFTAIYNSSGELINNIKYYDGFMGQRVGAISCLAFHPHWPHLAVGS
  NDYYISVYSVEKRVR

• Sequence length: 1335

Pathways

KEGG:

Autophagy - other
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Thermogenesis
Insulin signaling pathway
Shigellosis
MicroRNAs in cancer

Reactome:

Macroautophagy
mTOR signalling
mTORC1-mediated signalling
HSF1-dependent transactivation
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
Regulation of PTEN gene transcription
Amino acids regulate mTORC1

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL COORDINATION DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR SKILLS DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	25666752		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	25849663	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	14565645		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27314662, 27577081		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27305912, 27314662, 27577081, 29128895	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27314662	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27314662	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24312415	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35927303	Associate	★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	16368709		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	28686577		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	29882195	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31423233		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21430067, 32000660, 34311674	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	22710188		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	BEFREE	28686577		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	27284727		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	27284727	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17729302		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25867326, 37356726	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	25867326	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31281543	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23524405	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26361958		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26361958	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	32630231	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin Disease	BEFREE	10830743		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	27006450		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28727815		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	28727815	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	38497230	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	25249372		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27006450		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	36029471	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	39682777	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	29389967	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	34948253	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27314662, 27577081		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30997723		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18679422	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28208835		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	20185557		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GWASCAT_DG	29273593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	GWASCAT_DG	29273593		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	14565645		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	33836805	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23898069		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	29973652		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	29973652	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASDB_DG	23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASCAT_DG	23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	23563607, 33315090, 37513594	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	25533680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27211906, 37304865	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30997723		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30997723	Associate	★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural diseases	Pubtator	32365959	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23272152, 23646189, 31995655	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15923274, 24005976		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	16374479	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	30558792		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	11236899		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35896530	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23524405		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33482765	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29344641		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	LHGDN	16914728		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30082707		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19875696	Associate	★☆☆☆☆ Found in Text Mining only