EGF (epidermal growth factor)

Gene

• Entrez ID: 1950
• Gene name: Epidermal growth factor
• Gene symbol: EGF
• Synonyms (NCBI Gene): HOMG4, URG
• Chromosome: 4
• Chromosome location: 4q25
• Summary: This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an importan

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4444903	A>C,G	Benign, drug-response	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs121434567	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT460845	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT460844	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT460843	hsa-miR-940	PAR-CLIP	21572407
MIRT460842	hsa-miR-4459	PAR-CLIP	21572407
MIRT460841	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT460840	hsa-miR-665	PAR-CLIP	21572407
MIRT460839	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT460837	hsa-miR-1225-3p	PAR-CLIP	21572407
MIRT460836	hsa-miR-1233-3p	PAR-CLIP	21572407
MIRT460835	hsa-miR-1827	PAR-CLIP	21572407
MIRT460834	hsa-miR-3975	PAR-CLIP	21572407
MIRT460833	hsa-miR-2467-5p	PAR-CLIP	21572407
MIRT460832	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT460831	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT460830	hsa-miR-3188	PAR-CLIP	21572407
MIRT460829	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT460828	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT460827	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT460826	hsa-miR-6765-5p	PAR-CLIP	21572407
MIRT460825	hsa-miR-1273e	PAR-CLIP	21572407
MIRT460824	hsa-miR-1304-5p	PAR-CLIP	21572407
MIRT460845	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT460844	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT460843	hsa-miR-940	PAR-CLIP	23592263
MIRT460842	hsa-miR-4459	PAR-CLIP	23592263
MIRT460841	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT460840	hsa-miR-665	PAR-CLIP	23592263
MIRT460839	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT460838	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT460837	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT460836	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT460835	hsa-miR-1827	PAR-CLIP	23592263
MIRT460834	hsa-miR-3975	PAR-CLIP	23592263
MIRT460833	hsa-miR-2467-5p	PAR-CLIP	23592263
MIRT460832	hsa-miR-485-5p	PAR-CLIP	23592263
MIRT460831	hsa-miR-6884-5p	PAR-CLIP	23592263
MIRT460830	hsa-miR-3188	PAR-CLIP	23592263
MIRT460829	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT460828	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT460827	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT460826	hsa-miR-6765-5p	PAR-CLIP	23592263
MIRT460825	hsa-miR-1273e	PAR-CLIP	23592263
MIRT460824	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT734480	hsa-miR-199a-3p	Flow cytometry, Immunofluorescence, Microarray, Western blotting	32867783
MIRT734480	hsa-miR-199a-3p	Flow cytometry, Immunofluorescence, Microarray, Western blotting	32867783
MIRT734480	hsa-miR-199a-3p	Flow cytometry, Immunofluorescence, Microarray, Western blotting	32867783
MIRT460845	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT460844	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT460843	hsa-miR-940	PAR-CLIP	21572407
MIRT460842	hsa-miR-4459	PAR-CLIP	21572407
MIRT460841	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT460840	hsa-miR-665	PAR-CLIP	21572407
MIRT460839	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT460837	hsa-miR-1225-3p	PAR-CLIP	21572407
MIRT460836	hsa-miR-1233-3p	PAR-CLIP	21572407
MIRT460835	hsa-miR-1827	PAR-CLIP	21572407
MIRT460834	hsa-miR-3975	PAR-CLIP	21572407
MIRT460833	hsa-miR-2467-5p	PAR-CLIP	21572407
MIRT460832	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT460831	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT460830	hsa-miR-3188	PAR-CLIP	21572407
MIRT460829	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT460828	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT460827	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT460826	hsa-miR-6765-5p	PAR-CLIP	21572407
MIRT460825	hsa-miR-1273e	PAR-CLIP	21572407
MIRT460824	hsa-miR-1304-5p	PAR-CLIP	21572407
MIRT460845	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT460844	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT460843	hsa-miR-940	PAR-CLIP	23592263
MIRT460842	hsa-miR-4459	PAR-CLIP	23592263
MIRT460841	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT460840	hsa-miR-665	PAR-CLIP	23592263
MIRT460839	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT460838	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT460837	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT460836	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT460835	hsa-miR-1827	PAR-CLIP	23592263
MIRT460834	hsa-miR-3975	PAR-CLIP	23592263
MIRT460833	hsa-miR-2467-5p	PAR-CLIP	23592263
MIRT460832	hsa-miR-485-5p	PAR-CLIP	23592263
MIRT460831	hsa-miR-6884-5p	PAR-CLIP	23592263
MIRT460830	hsa-miR-3188	PAR-CLIP	23592263
MIRT460829	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT460828	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT460827	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT460826	hsa-miR-6765-5p	PAR-CLIP	23592263
MIRT460825	hsa-miR-1273e	PAR-CLIP	23592263
MIRT460824	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT954695	hsa-miR-1233	CLIP-seq
MIRT954696	hsa-miR-1304	CLIP-seq
MIRT954697	hsa-miR-3200-3p	CLIP-seq
MIRT954698	hsa-miR-3940-5p	CLIP-seq
MIRT954699	hsa-miR-4263	CLIP-seq
MIRT954700	hsa-miR-4433	CLIP-seq
MIRT954701	hsa-miR-4507	CLIP-seq
MIRT954702	hsa-miR-576-5p	CLIP-seq
MIRT954703	hsa-miR-629	CLIP-seq
MIRT1982744	hsa-miR-1285	CLIP-seq
MIRT1982745	hsa-miR-1298	CLIP-seq
MIRT1982746	hsa-miR-2964a-5p	CLIP-seq
MIRT1982747	hsa-miR-3124-3p	CLIP-seq
MIRT1982748	hsa-miR-3187-5p	CLIP-seq
MIRT1982749	hsa-miR-4502	CLIP-seq
MIRT1982750	hsa-miR-4659a-3p	CLIP-seq
MIRT1982751	hsa-miR-4659b-3p	CLIP-seq
MIRT1982752	hsa-miR-4762-3p	CLIP-seq
MIRT1982753	hsa-miR-4778-3p	CLIP-seq
MIRT1982754	hsa-miR-4778-5p	CLIP-seq
MIRT1982755	hsa-miR-526b	CLIP-seq
MIRT1982756	hsa-miR-612	CLIP-seq
MIRT1982757	hsa-miR-654-3p	CLIP-seq
MIRT954695	hsa-miR-1233	CLIP-seq
MIRT1982744	hsa-miR-1285	CLIP-seq
MIRT954696	hsa-miR-1304	CLIP-seq
MIRT2217625	hsa-miR-1914	CLIP-seq
MIRT1982748	hsa-miR-3187-5p	CLIP-seq
MIRT954697	hsa-miR-3200-3p	CLIP-seq
MIRT2217626	hsa-miR-3929	CLIP-seq
MIRT2217627	hsa-miR-4269	CLIP-seq
MIRT2217628	hsa-miR-4289	CLIP-seq
MIRT2217629	hsa-miR-4419b	CLIP-seq
MIRT954700	hsa-miR-4433	CLIP-seq
MIRT2217630	hsa-miR-4478	CLIP-seq
MIRT2217631	hsa-miR-4514	CLIP-seq
MIRT2217632	hsa-miR-4692	CLIP-seq
MIRT2217633	hsa-miR-4742-5p	CLIP-seq
MIRT2217634	hsa-miR-4793-3p	CLIP-seq
MIRT2217635	hsa-miR-550a	CLIP-seq
MIRT1982756	hsa-miR-612	CLIP-seq
MIRT2217636	hsa-miR-661	CLIP-seq
MIRT2436921	hsa-miR-1256	CLIP-seq
MIRT2436922	hsa-miR-3120-5p	CLIP-seq
MIRT2436923	hsa-miR-3925-3p	CLIP-seq
MIRT2436924	hsa-miR-4645-5p	CLIP-seq
MIRT2436925	hsa-miR-4673	CLIP-seq
MIRT2436926	hsa-miR-766	CLIP-seq
MIRT2436921	hsa-miR-1256	CLIP-seq
MIRT2436922	hsa-miR-3120-5p	CLIP-seq
MIRT2436923	hsa-miR-3925-3p	CLIP-seq
MIRT2436924	hsa-miR-4645-5p	CLIP-seq
MIRT2436925	hsa-miR-4673	CLIP-seq
MIRT2436926	hsa-miR-766	CLIP-seq
MIRT954695	hsa-miR-1233	CLIP-seq
MIRT954696	hsa-miR-1304	CLIP-seq
MIRT954700	hsa-miR-4433	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	2833511

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IDA	15611079
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	31915155
GO:0002092	Process	Positive regulation of receptor internalization	IDA	22732145
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20353436
GO:0005154	Function	Epidermal growth factor receptor binding	IEA
GO:0005154	Function	Epidermal growth factor receptor binding	TAS	9712850, 15611079
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2790960, 9135143, 12297050, 12620237, 17697999, 21439278, 21822280, 23597562, 25241761, 26280537, 28988771, 30082873, 30083275, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IDA	11336639
GO:0005615	Component	Extracellular space	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	3491360
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IBA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	8663461, 12435727, 24854121
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	15611079, 18567582, 20353436, 31915155
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IMP	8253073
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IMP	22732145
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IDA	7736574, 15611079
GO:0008083	Function	Growth factor activity	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	7736574
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	15611079, 20388803
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18722344
GO:0010595	Process	Positive regulation of endothelial cell migration	IDA	31915155
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	25678558
GO:0010800	Process	Positive regulation of peptidyl-threonine phosphorylation	IDA	16314496
GO:0016020	Component	Membrane	IEA
GO:0021930	Process	Cerebellar granule cell precursor proliferation	IEA
GO:0021940	Process	Positive regulation of cerebellar granule cell precursor proliferation	IEA
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	IDA	11336639, 15611079
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	IEA
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	TAS	9712850
GO:0030335	Process	Positive regulation of cell migration	IDA	25678558
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0038134	Process	ERBB2-EGFR signaling pathway	IDA	11336639
GO:0038134	Process	ERBB2-EGFR signaling pathway	IEA
GO:0042327	Process	Positive regulation of phosphorylation	IDA	15611079
GO:0043388	Process	Positive regulation of DNA binding	ISS
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	15611079, 18567582, 31915155
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	18722344
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	15611079
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16314496
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	ISS
GO:0048018	Function	Receptor ligand activity	IDA	11336639
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048731	Process	System development	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051048	Process	Negative regulation of secretion	IDA	10559227
GO:0051049	Process	Regulation of transport	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	31915155
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	31915155
GO:0060749	Process	Mammary gland alveolus development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0070371	Process	ERK1 and ERK2 cascade	IDA	16314496
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	20302655
GO:0090279	Process	Regulation of calcium ion import	IDA	19996314
GO:0090370	Process	Negative regulation of cholesterol efflux	IEA
GO:1900127	Process	Positive regulation of hyaluronan biosynthetic process	IDA	17324121
GO:1902966	Process	Positive regulation of protein localization to early endosome	IDA	22298428
GO:1905278	Process	Positive regulation of epithelial tube formation	IDA	31915155
GO:2000008	Process	Regulation of protein localization to cell surface	IDA	19996314
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IEA

Other IDs

• MIM: 131530
• HGNC: 3229
• e!Ensembl: ENSG00000138798

Protein

• UniProt ID: P01133
• Protein name: Pro-epidermal growth factor (EGF) [Cleaved into: Epidermal growth factor (Urogastrone)]
• Protein function: EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagemen
• PDB: 1IVO, 1JL9, 1NQL, 1P9J, 2KV4, 3NJP, 7OM4, 7SYD, 7SYE, 7SZ0, 7SZ1, 8HGO, 8HGS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07645	EGF_CA	356 → 395	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	524 → 564	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	567 → 607	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	610 → 651	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	654 → 694	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	745 → 780		Domain
  PF07645	EGF_CA	870 → 910	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	912 → 948	Calcium-binding EGF domain	Domain
  PF00008	EGF	976 → 1011	EGF-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney, salivary gland, cerebrum and prostate. {ECO:0000269|PubMed:17671655}.
• Sequence:

  MLLTLIILLPVVSKFSFVSLSAPQHWSCPEGTLAGNGNSTCVGPAPFLIFSHGNSIFRID
  TEGTNYEQLVVDAGVSVIMDFHYNEKRIYWVDLERQLLQRVFLNGSRQERVCNIEKNVSG
  MAINWINEEVIWSNQQEGIITVTDMKGNNSHILLSALKYPANVAVDPVERFIFWSSEVAG
  SLYRADLDGVGVKALLETSEKITAVSLDVLDKRLFWIQYNREGSNSLICSCDYDGGSVHI
  SKHPTQHNLFAMSLFGDRIFYSTWKMKTIWIANKHTGKDMVRINLHSSFVPLGELKVVHP
  LAQPKAEDDTWEPEQKLCKLRKGNCSSTVCGQDLQSHLCMCAEGYALSRDRKYCEDVNEC
  AFWNHGCTLGCKNTPGSYYCTCPVGFVLLPDGKRCHQLVSCPRNVSECSHDCVLTSEGPL
  CFCPEGSVLERDGKTCSGCSSPDNGGCSQLCVPLSPVSWECDCFPGYDLQLDEKSCAASG
  PQPFLLFANSQDIRHMHFDGTDYGTLLSQQMGMVYALDHDPVENKIYFAHTALKWIERAN
  MDGSQRERLIEEGVDVPEGLAVDWIGRRFYWTDRGKSLIGRSDLNGKRSKIITKENISQP
  RGIAVHPMAKRLFWTDTGINPRIESSSLQGLGRLVIASSDLIWPSGITIDFLTDKLYWCD
  AKQSVIEMANLDGSKRRRLTQNDVGHPFAVAVFEDYVWFSDWAMPSVMRVNKRTGKDRVR
  LQGSMLKPSSLVVVHPLAKPGADPCLYQNGGCEHICKKRLGTAWCSCREGFMKASDGKTC
  LALDGHQLLAGGEVDLKNQVTPLDILSKTRVSEDNITESQHMLVAEIMVSDQDDCAPVGC
  SMYARCISEGEDATCQCLKGFAGDGKLCSDIDECEMGVPVCPPASSKCINTEGGYVCRCS
  EGYQGDGIHCLDIDECQLGEHSCGENASCTNTEGGYTCMCAGRLSEPGLICPDSTPPPHL
  REDDHHYSVRNSDSECPLSHDGYCLHDGVCMYIEALDKYACNCVVGYIGERCQYRDLKWW
  ELRHAGHGQQQKVIVVAVCVVVLVMLLLLSLWGAHYYRTQKLLSKNPKNPYEESSRDVRS
  RRPADTEDGMSSCPQPWFVVIKEHQDLKNGGQPVAGEDGQAADGSMQPTSWRQEPQLCGM
  GTEQGCWIPVSSDKGSCPQVMERSFHMPSYGTQTLEGGVEKPHSLLSANPLWQQRALDPP
  HQMELTQ

• Sequence length: 1207

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Phospholipase D signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
JAK-STAT signaling pathway
Regulation of actin cytoskeleton
Hepatitis C
Human papillomavirus infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Melanoma
Bladder cancer
Non-small cell lung cancer
Breast cancer
Gastric cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer

Reactome:

Platelet degranulation
Signaling by ERBB2
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PIP3 activates AKT signaling
Signaling by EGFR
GRB2 events in EGFR signaling
GAB1 signalosome
SHC1 events in EGFR signaling
EGFR downregulation
PI3K events in ERBB2 signaling
EGFR interacts with phospholipase C-gamma
Constitutive Signaling by Aberrant PI3K in Cancer
Constitutive Signaling by EGFRvIII
Inhibition of Signaling by Overexpressed EGFR
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Downregulation of ERBB2 signaling
Extra-nuclear estrogen signaling
NOTCH3 Activation and Transmission of Signal to the Nucleus
Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 ECD mutants
Signaling by ERBB2 TMD/JMD mutants

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
Renal hypomagnesemia 4	Pathogenic	rs121434567	RCV000018089	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF MAGNESIUM METABOLISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EGF-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Hypomagnesemia, Recessive	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	18199957, 21178801		★☆☆☆☆ Found in Text Mining only
Acromicric Dysplasia	Acromicric Dysplasia	BEFREE	30887145		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	31075867		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28282218, 3464613		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	17685929		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	20127414		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	14597771		★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	BEFREE	25488668		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	BEFREE	25488668		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11585739, 11590324, 12600830, 12749846, 1325950, 16585174, 16774944, 16956694, 17227303, 17851837, 18704599, 18799374, 21187519, 21274378, 2202801, 2285597, 26625757, 27259812, 27381270, 28144970, 28832323, 29301782, 29501977, 29960043, 3096922, 3668732, 9060993		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18483390		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	23064031		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	8785711		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	18483390, 19520791, 20101173, 22089954, 22129558, 26844548		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	22923609, 24270601		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	15856467, 18441512, 18706736, 19570984, 2018357, 21617857, 22272264, 22317760, 23243218, 24063894, 24233154, 25174397, 25596245, 26620497, 26625757, 27734950, 28160565, 28732076, 29228636, 29455656, 29463039, 29805772, 29934389, 30552364, 30972766, 9659582		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	16678855		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	10398277		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	23064031		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	23064031		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	23064031		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11414477, 15138601, 25375362, 29149105, 30150441, 8636285, 8669884		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	28157706, 29149105		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	11152283, 11288140, 27267807		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	12697691, 16394175, 19996587		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	ORPHANET_DG	21440548		★☆☆☆☆ Found in Text Mining only
Adult hepatocellular carcinoma	Liver carcinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28706234		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	28357665		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22031286		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	27764813		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	19780835		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29693180		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	29948307		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	17266442		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19395124	Stimulate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	25099616, 32879156	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16902995, 30883949		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	15386373, 1697567, 18704599, 26434585, 30198788, 3390372		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	8262681		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	25773758		★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	12844226		★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	16192644, 17685929		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	29162348		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	10891365, 17096356, 24048788, 24096486, 24567526, 26279302		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	33849116	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	22330337, 28339009		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	22155408		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	27764813		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	22537155		★☆☆☆☆ Found in Text Mining only
AROMATASE EXCESS SYNDROME	Aromatase Excess Syndrome	BEFREE	11897504		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10198059, 29152651, 29325640		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	17204151	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11229455, 17204151, 31178673, 37445932	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	17204151		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16424381, 22247333, 26057128		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	25624129	Stimulate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10987838, 11058875, 11113870, 11814314, 11939722, 12127399, 15048678, 15290895, 16185155, 16357147, 1675468, 1902475, 19127042, 19559020, 20467333, 2994648, 9863009		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	11939722, 1902475, 19127042	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	23608378	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	10489901		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	11080496	Inhibit	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10198059, 29152651, 29325640		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28751869		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36320054	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18179900, 27862943, 28751869		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	17626784, 28070266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17626784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	28070266	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23190644		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	8240367		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	1303248, 7785704, 8071964, 8266997, 8940274		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger Syndrome, Type 1	Axenfeld anomaly	BEFREE	8940275		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28849123, 29201227, 29538305, 30304036		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	BEFREE	8443952		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	1452065, 18483390	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	18483390, 22129558, 7847825, 8438848, 8443952		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	23625463		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	23625463	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	2713242, 29695553		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10579352, 8698313, 8973690		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	24126820, 26379158		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	34392560	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	25217982	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	26462502	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10811126, 10995035, 11507076, 12050554, 16685269, 20956946, 22922989, 23698120, 24126741, 31584195		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	34342048	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	22537155		★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	11005785	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	23608378	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	23608378	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10626807, 11700018, 14519080, 1567659, 1671751, 17616668, 20303009, 23533263, 25412762, 28532151, 2981413, 30298963, 30697076		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	18292095, 19622585, 32883221	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	10786684, 1637682, 20727996		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10228944, 10597254, 10606181, 10634512, 10717621, 10810301, 10828888, 10903426, 10926802, 11030146, 11212228, 11710837, 11821958, 12127860, 12140767, 12375030, 12386818, 12514568, 12527919, 12554767, 12643853, 12670921, 12908818, 14584041, 14617784, 14756541, 15084247, 15093813, 15302578, 15383325, 15389572, 15466203, 15528389, 15562024, 15607537, 15703820, 15976008, 16024613, 16166289, 16185155, 1637682, 1660689, 16624551, 16721044, 1673338, 1675999, 16847054, 1685017, 17106250, 1715580, 1716909, 17172846, 17363586, 17374991, 17537730, 17881501, 17892419, 17940864, 18023415, 18271972, 18316615, 18320059, 18418701, 18463975, 18587642, 18690849, 19070659, 1918178, 19388850, 19418218, 19483462, 19491269, 19530702, 19760033, 19786658, 19894109, 20080707, 20374025, 20407013, 20514023, 20727996, 20978191, 2103505, 21241485, 21258408, 21278610, 21315418, 21390186, 21787862, 21951604, 2206558, 22192147, 22296186, 22445895, 22472120, 22476347, 22761403, 22860018, 23338610, 23532252, 23621182, 2364377, 23649631, 23653350, 23686416, 23720051, 23747719, 23911287, 24241683, 24615340, 24947784, 25119636, 25209720, 2521857, 25269647, 2537620, 2564657, 25666946, 25711523, 25783158, 25799492, 2612733, 26179713, 26215578, 26391397, 26531758, 26950360, 26996666, 27087131, 27256378, 27555661, 27564112, 27816751, 27826664, 27862996, 28223691, 28243121, 28301261, 28412725, 28436008, 28454358, 28498520, 28509606, 28606050, 28799567, 28810691, 29025596, 29051317, 29122663, 29164418, 29452913, 2962582, 29749454, 29763460, 29786482, 29805641, 29806596, 2986629, 29880014, 30131927, 30221739, 30226569, 30366624, 30384581, 30411431, 30514153, 30541042, 30667505, 30754719, 31038406, 31171012, 31240310, 31247884, 31319941, 31408676, 31430760, 31532771, 31620166, 31766464, 31842789, 3260816, 3261981, 3494191, 3495272, 3496959, 3502607, 7526884, 7612898, 7672450, 7834453, 7881101, 8094290, 8390290, 8561865, 8617201, 9010238, 9066618, 9070230, 9191980, 9270011, 9419415, 9849427		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16175315, 21942447, 23064031		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10364198, 10903426, 12138200, 15084247, 15607537, 15798095, 15951439, 1616857, 16253990, 16684880, 16847054, 17142811, 17311928, 17363586, 17537730, 17591970, 18467441, 18820370, 18990689, 1922031, 19386091, 19514121, 20080707, 20219074, 20223837, 20889718, 21209853, 21241485, 21258408, 21390186, 21704603, 21850275, 21861179, 22476347, 22860018, 22927910, 22992742, 23083134, 23532252, 23686416, 23747719, 23912956, 23981902, 24196838, 24241683, 2465187, 2521857, 2537620, 25799492, 26005723, 26215578, 26647977, 27485121, 27564112, 27760283, 27829223, 28106823, 28412963, 28629477, 29452913, 29880014, 29953877, 3005320, 3017397, 30514153, 3126185, 31428691, 31605603, 31766464, 32350443, 32377695, 33322037, 33755016, 33832505, 34076564, 34289100, 35502895, 37747031, 39242688, 39780215, 40430050, 6259217, 7526884, 8180021, 8595162, 8774153, 9270011, 9370349, 9627341, 9813039	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19400944, 26915319	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	15937810, 28104586		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	31450770		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	1703031, 30953469		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	16107360, 19043263, 21616505, 25098330, 27881154, 30032161, 37295172	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	12136071, 12482954, 16107360, 16730748, 20038773, 22373597, 25096610, 25098330		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	29727865		★☆☆☆☆ Found in Text Mining only
Cancer of Head	Neoplasm of head	BEFREE	21187523		★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	17908353, 29551087		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	2478180	Inhibit	★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	31758045		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	1452065, 17316357, 17433039, 19403524, 20487573, 22782629, 23790025, 25117311, 25701553, 27835592, 29039605, 29884818, 32881389, 34358255, 7819044	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20080707, 21640721	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	16424381	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10534770, 11359909, 12027461, 1282800, 15642791, 1594497, 16377102, 16804520, 17291450, 1746909, 1938601, 19591825, 20033794, 20679487, 2098274, 2108945, 21220318, 2157713, 2298497, 2354442, 23577150, 2511181, 25244542, 2697181, 28501600, 29556616, 2984254, 2998607, 2998610, 30008917, 30150441, 7508078, 7558411, 8166440, 8407551, 8491760, 8669884, 8976875, 9648926		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	23496982	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	27301516	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	23083134	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	14716823, 15040022, 19411282, 20080086, 20856226, 21440548, 22701712, 23419149, 23464434, 23790025, 24268047, 24616922, 24703510, 24716919, 25504078, 25605193, 25707355, 26035355, 26290635, 26854475, 28713927, 29449645, 3040466, 30912093, 30971297, 32379058, 32711431, 33099927, 36246403, 6265908	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10811126, 10995035, 11507076, 12050554, 16685269, 1868471, 22922989, 23698120, 24126741, 2606569, 31584195		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10022881, 12867060, 14519080, 14612408, 15539955, 15663953, 15864435, 15911247, 16766261, 16819504, 17459062, 17986122, 18687633, 18692155, 18706736, 19903771, 20068176, 20388507, 21497567, 21712056, 21777670, 22272264, 22302097, 22523180, 22844075, 22971028, 23071030, 23307186, 23344263, 23344264, 23520446, 23542356, 24019492, 24063894, 24308656, 24357739, 24386407, 24608429, 24658031, 24795011, 25046405, 25124796, 25404012, 25439778, 25468140, 25653196, 26663872, 27164304, 27424979, 27807951, 27873490, 28092674, 28117344, 2830015, 28351036, 28680284, 29140689, 29238696, 29455656, 29662194, 29960043, 29976202, 30127783, 3032412, 30775029, 30783937, 30868964, 30890751, 31132309, 31594212, 31786944, 8785711, 9727626		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23889749, 25533808	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	12377812, 18505086, 20430737, 24048788, 24567526, 31731384, 32696951, 34163029	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20089566, 24914205, 25909813, 31348324, 31850854, 31939627, 31950034, 34358255, 35655917, 37563650, 8127013, 8886918	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	1503897, 1701695, 18507008, 19203995, 1936256, 20621058, 21769085, 22592160, 23383347, 2544220, 26464646, 36504325, 6271744, 7040412, 8638090	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	3490853	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30173251, 8315111		★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	23064031		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	23064031		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	16507913		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10067810, 10811499, 10926791, 11753986, 14639658, 15921680, 16000575, 17045920, 18171982, 18423824, 18559505, 18852147, 19144868, 19864325, 22037316, 22315226, 22544349, 23889749, 25533808, 25576358, 26122654, 26378042, 26572150, 27913862, 28668900, 31062668, 7954262, 9605408		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	3668732		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	26254334		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	26254334	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10440257		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	23966426		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	35409031	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20691195		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17316357, 17894388, 21358296, 21946890, 22009535, 23936413, 28498437, 29777148		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17316357, 17894388, 21358296, 21946890, 23936413, 24567178, 28498437, 29777148		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28706234		★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	30235384, 31741361		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	1355757, 18023415, 19954816, 30504933, 31754244		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24574749, 31754244, 33639651, 34798470	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholecystolithiasis	Cholecystolithiasis	BEFREE	18571008		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	18571008		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	15481560, 24311896, 33627146	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	28498080, 7680089, 7976315		★☆☆☆☆ Found in Text Mining only
Cholesteatoma Middle Ear	Middle ear cholesteatoma	Pubtator	15481560	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	32533822, 34127734	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10779323, 11301061, 14709841, 7488231, 7540549, 7685239, 7988452, 8070393, 9027325		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29581578, 29872287, 31239465		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	15081423		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	18167406, 19840254, 21186997, 22236006, 24677197, 25504078, 26854475		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	26398511	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	19307027		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	28906376	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	21520231	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	19395124, 37686198	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	22772467, 23333074, 29904166		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23825635	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10362109, 15138601, 15353309, 15832373, 16139803, 16619503, 17222808, 19492417, 19781065, 21639915, 21642355, 21646361, 21653642, 22621366, 22956286, 23457600, 23827854, 24792576, 25212605, 27730672, 2912554, 29137335, 29515334, 30226622, 30596555, 31088266, 31717527, 7750206, 8335403, 9335455, 9525476, 9703869, 9816209		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	1639855, 2072905, 25987127, 27273097, 8514777	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	1974861, 22975375, 3282475, 7558411		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10463611, 11839557, 15623600, 16401477, 16788380, 17851837, 18154448, 19011936, 19124237, 19921131, 20420953, 21553007, 21567271, 21745016, 21924350, 21965749, 22117530, 22173329, 22467075, 22553926, 22694907, 23374602, 23403233, 23511561, 23560377, 23633456, 23729478, 23741067, 23825635, 24171795, 24180698, 24626880, 24815445, 24893630, 25117311, 25197077, 25365190, 25644309, 26027741, 26071484, 26242620, 26462154, 26852686, 27178450, 27648936, 28169239, 28418176, 28535417, 28539619, 28672935, 28716720, 29149105, 29361822, 29549923, 30068339, 30130797, 30252132, 30633190, 30650638, 30671888, 30720135, 30863492, 30931980, 31053624, 31060243, 31281520, 31358848, 31492766		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10362109, 14966913, 17260007, 19799648, 21639915, 21646361, 21791631, 22117530, 22363134, 22547830, 22553926, 23511561, 23638973, 23825635, 24069372, 24180698, 25122478, 26037168, 26110767, 26657850, 26852686, 26879318, 29361822, 30068339, 30127519, 30633190, 30720135, 30770752, 31053624, 31358848, 31717527, 32468032, 34133521, 36591314, 36982429, 37202390, 37544925, 38556263	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	16585174, 1715580, 23857061, 8302592		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17851837		★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	11261834		★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	22684234		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	16902995		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	24126820, 26379158		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	30943495, 3239571		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	14714133		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	17072672		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	14714133, 28351036		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15492822, 1596891, 17206887, 1973362, 20203692, 22475688, 22736024, 2294252, 2354442, 24192126, 25909813, 27453294, 28128743, 29928482, 8600053, 8886918, 9143403, 9187911, 9664910		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	23482085		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11922634, 27835972, 30773943, 31794514		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	11922634		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27835972, 34565095	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	35866783	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11922634		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	26930482	Associate	★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	19035362		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	22404332		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	1985035		★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	30583465		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	14520709, 16691190, 25537294, 30569717		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	12189163		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	30471113, 8942836		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	18757521		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	18757521	Associate	★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	8636651		★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	19193608, 19628257	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15449424		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	27460346		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	21520231	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	12482954		★☆☆☆☆ Found in Text Mining only
Denys-Drash Syndrome	Denys-Drash Syndrome	BEFREE	9291179		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28501736		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	27755861	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	12819035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	CTD_human_DG	27206134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	Pubtator	27206134	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	BEFREE	24337738, 29862299, 30093649		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	2080118, 29386833, 29632822		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30552892		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	20144210	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21099256, 24708156, 36996194	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30552892		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21099256, 37543256	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11064106, 24989997, 28760408, 29959129		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25300688, 28840653		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	30221384		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	32812896	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32778679, 35991124, 37988198, 38013385, 38027201, 40312440	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	39510044	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	16105029, 17475821, 19452424, 29636387, 29959129, 30241508, 30357416, 9067916		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30221384		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30953469		★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	28339009		★☆☆☆☆ Found in Text Mining only
Dissection Ascending Aorta	Dissection of aorta	Pubtator	7762551	Associate	★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	28514870, 29055789		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	34474479	Associate	★☆☆☆☆ Found in Text Mining only
Donohue Syndrome	Leprechaunism syndrome	BEFREE	2808704, 6286709		★☆☆☆☆ Found in Text Mining only
Donohue Syndrome	Donohue syndrome	Pubtator	2808704	Associate	★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	25365709		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	30552892		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	36499565	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	9066618		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	17707220		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal ulcer	Pubtator	9176072	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren Contracture	LHGDN	15622242		★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren Contracture	BEFREE	7722248		★☆☆☆☆ Found in Text Mining only
Early onset schizophrenia	Schizophrenia	BEFREE	15614591		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	12401248, 24754849		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	8647934		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	8647934		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	8647934		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	8647934		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	BEFREE	10229672, 24768550		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia lentis	Pubtator	10229672	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	24337738, 29862299, 30093649		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10572182, 1616874, 16525671, 16826583, 16962163, 17403429, 19319135, 20579378, 23262208, 23529353, 26614428, 30510261, 8615644, 8776733, 9713283		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16826583, 19319135, 19604315, 20579378, 24077349, 30510261, 35169075, 38225862, 8314534, 8641991	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	18987482		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	17852426, 18987482, 22619359, 25222228, 29558202		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32762950	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	22675459, 27314851, 28315470	Inhibit	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	21658447, 8636651		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	10067810, 10926791, 18171982, 18559505, 22037316, 22544349, 23889749, 25533808, 25576358, 31062668		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	24945379, 28509606, 7529189		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	30333254		★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	30333254	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	28688571		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10763823, 15520175, 17912028, 18369180, 18773861, 2004373, 20413216, 23403233, 31190084, 8128479, 8491760		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	10908564, 17912028, 19090015, 32103875, 36092955, 8128479	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15520175, 17912028, 18369180, 18773861, 20413216, 22129558, 23403233, 31190084		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	17912028, 18773861		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20502940, 24945674, 28459198, 37248653	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	35564692	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	8443952		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29539615		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	33153894	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	31634339, 31800535		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	24574749		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	29191924		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	21151603	Associate	★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor VII Deficiency	BEFREE	10937801, 9680360		★☆☆☆☆ Found in Text Mining only
Factor X Deficiency	Factor x deficiency	Pubtator	12028042	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	24296312		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18483390, 19520791, 22089954		★☆☆☆☆ Found in Text Mining only
Familial primary hypomagnesemia with normocalciuria and normocalcemia	Hypomagnesemia With Normocalciuria And Normocalcemia	ORPHANET_DG	17671655		★☆☆☆☆ Found in Text Mining only
Familial primary hypomagnesemia with normocalciuria and normocalcemia	Hypomagnesemia With Normocalciuria And Normocalcemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	15536154, 1936340, 21821245, 28875276, 29729689		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	15536154		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	10369712		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	22122913, 22330337, 24303948, 28864379		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	31664084		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	15735020, 17397984, 22280229		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	18571008		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	LHGDN	18571008		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	CTD_human_DG	9324159, 9479624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrinoma	Gastrinoma	BEFREE	12114431		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	33957136	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	11859273		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	18483390, 19520791, 35564692, 36092955	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	18483390, 19520791		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	15386373, 22129558, 25468140		★☆☆☆☆ Found in Text Mining only
Geleophysic dysplasia	Geleophysic Dysplasia	BEFREE	30887145		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	9119881	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	16598420		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	BEFREE	9370234		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	22034878		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10411339, 10541432, 10576656, 10666371, 10725459, 11087732, 11454673, 11515790, 12014630, 12532415, 12702570, 1374522, 14624623, 14973082, 15700833, 16697959, 16885506, 1693434, 1701094, 17175377, 17473192, 19602687, 20197289, 20199106, 20392929, 20404701, 20446891, 20565806, 20830604, 20872274, 21503828, 2168866, 21896743, 22085529, 22086906, 22151431, 22203985, 22316604, 22729867, 22745588, 22891331, 22966858, 23284962, 23440206, 23533263, 23770238, 23857604, 23864165, 24012640, 24045955, 24077285, 24330732, 24436148, 24740103, 25053824, 25347738, 27121290, 28368403, 28434940, 28934307, 29029486, 29117939, 30528229, 31284441, 31386654, 31438847, 31532058, 31698752, 3263568, 3380099, 8036013, 8864278, 9161727, 9334810, 9370234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	16598420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	17473192, 19018263, 19602687, 20197289, 20392929, 20487573, 21309478, 22481252, 23206951, 24045955, 24771221, 27132626, 27888226, 29559295, 29953622, 30514230, 31438847, 31698752, 32051553, 33762574, 33824275, 36292985	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	29117939	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	10077162, 10411339, 10427128, 10541432, 10576656, 10725459, 11515790, 12014630, 12532415, 12702570, 1374522, 14624623, 14973082, 15700833, 16885506, 1693434, 1701094, 17175377, 17473192, 19855928, 20197289, 20199106, 20392929, 20404701, 20446891, 20565806, 20830604, 20872274, 21503828, 2168866, 21896743, 22085529, 22086906, 22151431, 22203985, 22316604, 22729867, 22745588, 22891331, 22966858, 23284962, 23857604, 23877363, 24012640, 24045955, 24077285, 24436148, 24740103, 25053824, 25347738, 27121290, 27888226, 28368403, 28434940, 28615958, 28934307, 29029486, 29117939, 30514230, 30528229, 30864699, 31114250, 31386654, 31438847, 31532058, 31698752, 3263568, 3380099, 7760096, 8847560, 8864278		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	16598420		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10595738, 11245272, 11535237, 12036929, 12430714, 1374522, 15279711, 15308179, 1567659, 17473192, 17541939, 19169273, 19192961, 19215724, 19378758, 19634110, 20033794, 20108217, 20199106, 20207214, 20446891, 20487573, 20938717, 21123997, 21309478, 21506118, 22106858, 22114076, 22219380, 22481252, 22662167, 22782629, 22829952, 23645212, 23963773, 24740103, 24841514, 26722408, 28388894		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	10595738, 15279711, 16623952, 17473192, 17855624, 19634110, 20487573, 21309478, 21506118, 22114076, 22481252, 22782629, 22829952, 24362532, 27888226, 39780215, 7566395	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17473192		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	10666371		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	10547607		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	36978098	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	8943482	Inhibit	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	34706519	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	27506295	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	30425334, 35816039	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	37279855	Inhibit	★☆☆☆☆ Found in Text Mining only
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	BEFREE	3239571		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	21151603	Associate	★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	28705113, 8636285		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	12375030		★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	20586780		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	3487976		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	1408194, 23444227, 23576557, 25797258, 2807884, 3581091		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	17453000		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33916908	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	12871416	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	10381508, 12105230, 12871416, 15219198, 2014182, 2306516, 2762170, 2821070, 3262389	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	12871416, 2306516, 2875754, 3262389, 9259588		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	34474479	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	22236006, 23790025	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	26854475	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	22568915, 27910913		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	27910913	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	18929421		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18505086, 1939154	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	12753359		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	23757299		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	26242620		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	24141626	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	21769085	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31104296, 9331174		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	11737472	Associate	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	7685239		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	7685239		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29342116		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	LHGDN	14614718		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	23461995		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	19001363, 19224862, 20599862, 25414277, 7635482, 7989866		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30930073		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	15100232, 19001363, 19224862, 7989866	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	19001363, 19224862, 20599862, 25414277, 7635482, 7989866		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	25294851		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	11701445, 21505178	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	27709733, 36867212	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	34706519	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	29845760, 35674115	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12009575, 12896876, 19850946, 22005303, 24558090		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	19945766		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	8831628		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 4, Renal	Renal Hypomagnesemia	GENOMICS_ENGLAND_DG	17671655		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 4, Renal	Renal Hypomagnesemia	UNIPROT_DG	17671655		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 4, Renal	Renal Hypomagnesemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	36599283	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16399861, 26800359, 28330951, 29845760	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20920536, 24180698, 24914205, 25122487, 35674115	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	29394136, 9458358		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	33208564	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	19850946, 30753867		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	20067420, 21132379		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37099633	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	31606236, 8943482		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	16361567, 29237808		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21520231, 24757111, 27558235, 27788676		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22772467, 26787018, 31184526		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	10606181, 20133255, 25520077, 2563719, 26821068, 28426875, 30942462		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	12819035, 23604962		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32651353	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	8456283		★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	LHGDN	16837648		★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	29240250		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	27075568	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	29472497		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	35643225	Associate	★☆☆☆☆ Found in Text Mining only
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	BEFREE	28561256		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	29416688		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	23677487		★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	1532884	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10886563, 25311535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	19139726, 21354048, 29567951, 31165727, 31906817, 8943482	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	CTD_human_DG	21865292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	31906817	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28873373		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	17943082		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	2720695		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31672701, 39780215	Associate	★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	BEFREE	12072393		★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	15864435		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	25008564	Associate	★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	17660513		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	17660513	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	1936340, 21821245	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	16681772	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	29729689		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	20308328		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10725459		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32587297	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12163055		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17685929, 23933272, 26462154		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30614013		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	22252571, 22718294, 23778523, 25229239, 29843953, 30598264, 30668428, 31401066		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	18430964		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	18430964	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10664247, 11916239, 12395320, 1281991, 12944988, 16331686, 16959361, 17145871, 17323377, 18167406, 18199534, 18395097, 19840254, 19900104, 20385424, 20860815, 21186997, 21440548, 21737648, 21990321, 22293333, 22329800, 22403631, 22549912, 22701712, 22852842, 22967907, 23419149, 23464434, 23633480, 23696034, 23790025, 24268047, 24677197, 24703510, 24716919, 24815445, 24841514, 25422324, 2544452, 25504078, 25854398, 25872475, 25927412, 26542361, 26854475, 27108677, 27519414, 28649002, 28844984, 28881749, 28915658, 28954551, 28968425, 29315755, 29387234, 29970668, 3005205, 30129142, 3040466, 30537288, 7958694, 8396816, 9066649, 9279516		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12667326, 18167406		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	9029167		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18167406, 19840254, 19900104, 21186997, 22236006, 24677197, 25504078, 26854475		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	18167406		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	21212030, 22236006	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11916239, 1281991, 19840254, 21864510, 22701712, 24703510, 25422324, 2544452, 3040466, 30504933, 8396816, 9279516		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	32711431	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16900664		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	24819665	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	24819665	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	24819665		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	14612408, 1503897, 16825508, 21546410, 25439778, 25680408, 27807951, 27873490, 28088176, 30022688, 30127783, 31104010, 32881389, 36504325	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15802268, 17453000, 17673689, 17986122		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15867348, 24346967, 2537147, 29769722, 3668732		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32240782	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	24606538, 25699271		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17316357, 20430735, 20430737, 31053624	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18505086	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	20472833, 21805036		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	34406330	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	22031286		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22504456, 30583255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	22504456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	15154665		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	11535237, 14973082, 15048678, 20213100, 22481252, 24330607, 27121290, 27165742, 2824025, 3001490, 30298963, 7760096		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	1408194, 23444227, 23576557, 25797258, 3581091		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	2787682		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	17062665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	11700018, 20303009, 28532151		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10228944, 10597254, 10606181, 10634512, 10810301, 10828888, 10903426, 10926802, 10989985, 11030146, 11212228, 11250711, 11710837, 11821958, 11824879, 12127860, 12140767, 12375030, 12386818, 12514568, 12527919, 12554767, 12643853, 12670921, 12908818, 1359153, 14617784, 14756541, 15084247, 15093813, 15302578, 15383325, 15389572, 15466203, 15528389, 15562024, 15607537, 15703820, 15976008, 16024613, 16166289, 16185155, 16721044, 1673338, 1674411, 1675999, 16847054, 1685017, 17001676, 17108131, 17172846, 17363586, 17374991, 17579068, 17881501, 17892419, 17940864, 18023415, 18271972, 18316615, 18320059, 18418701, 18463975, 18587642, 18690849, 19070659, 1918178, 19388850, 19418218, 19483462, 19491269, 19530702, 19760033, 19786658, 19894109, 20080707, 20374025, 20514023, 20727996, 20978191, 2103505, 21042418, 21241485, 21258408, 21278610, 21315418, 21368274, 21390186, 21787862, 21951604, 2206558, 22192147, 22296186, 22445895, 22472120, 22476347, 22761403, 22860018, 23338610, 23532252, 2364377, 23649631, 23653350, 23665199, 23686416, 23720051, 23747719, 23864327, 24120661, 24241683, 24615340, 24947784, 25119636, 25209720, 2521857, 25269647, 2537620, 2564657, 25666946, 25711523, 25783158, 25799492, 2612733, 26179713, 26215578, 26391397, 26531758, 26950360, 26996666, 27087131, 27213582, 27256378, 27555661, 27564112, 27816751, 27826664, 28223691, 28243121, 28301261, 28412725, 28436008, 28454358, 28498520, 28509606, 28606050, 28799567, 28810691, 29025596, 29051317, 29122663, 29164418, 29309250, 29452913, 29549861, 2962582, 29749454, 29763460, 29786482, 29805641, 29806596, 2986629, 29880014, 30221739, 30226569, 30366624, 30384581, 30411431, 30514153, 30541042, 30667505, 30754719, 31038406, 31171012, 31240310, 31247884, 31319941, 31408676, 31430760, 31532771, 31620166, 31766464, 31842789, 3260816, 3261981, 3494191, 3502607, 7526884, 7612898, 7672450, 7834453, 7881101, 8390290, 8561865, 8617201, 9010238, 9066618, 9191980, 9270011, 9298807, 9419415, 9849427		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16175315, 21942447, 23064031		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	1616874, 16826583, 16962163, 19319135, 20579378, 23262208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15520175, 17912028, 18369180, 18773861, 20413216, 23403233, 2459070, 31190084		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	18571008		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	21805036, 23403233, 28477738		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	22122913, 25299191, 25872475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12867060, 14612408, 14739033, 15329413, 15539955, 15663953, 15911247, 16087880, 16705038, 16766261, 16819504, 17459062, 17986122, 18441512, 18692155, 18706736, 1971522, 19903771, 20068176, 20388507, 21497567, 21712056, 21777670, 22272264, 22302097, 22523180, 22773810, 22844075, 22956644, 22971028, 23071030, 23178117, 23307186, 23344263, 23344264, 23470965, 23520446, 23542356, 23872583, 24019492, 24063894, 24308656, 24357739, 24386407, 24608429, 24658031, 24795011, 25046405, 25124796, 2537147, 25404012, 25439778, 25468140, 25653196, 25757687, 26572169, 26663872, 27164304, 27381270, 27424979, 27807951, 27873490, 28092674, 28117344, 2830015, 28351036, 28680284, 29140689, 29238696, 29455656, 29662194, 29960043, 29976202, 30127783, 3032412, 30775029, 30783937, 30868964, 30890751, 31132309, 31594212, 31786944, 8785711, 9727626		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	22252571, 22718294, 2752531, 29843953, 30598264, 30668428, 31401066		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	17908353, 29551087		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10811499, 14639658, 1500387, 15921680, 16000575, 17045920, 1746909, 18423824, 18852147, 19144868, 19864325, 22315226, 22544349, 2285597, 26122654, 26378042, 26572150, 2697181, 27913862, 28668900, 31062668, 7954262, 9605408		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11469683, 1401070, 14599602, 15365564, 16171565, 16340751, 21729304, 21967400, 22761868, 22990108, 23376846, 23426533, 23469969, 24096486, 25483102, 25686822, 26109002, 26262587, 26709750, 27035876, 28604742, 29072694, 29125273, 3014534, 30464258, 30968148, 31013436, 31492766, 8980184		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	BEFREE	23517177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10398277, 10579352, 10881027, 11668495, 11710837, 12746839, 12841683, 14617787, 14734484, 15452555, 15455380, 15754342, 16018936, 16238095, 16541421, 16954433, 17108114, 17163422, 17912451, 18023415, 18253818, 18519765, 19320436, 19356736, 19488063, 19491261, 19787273, 20538380, 20687230, 21571867, 21784672, 21878636, 22110740, 22461520, 22974583, 23661635, 23757299, 23824605, 24126741, 24296312, 24435707, 24796332, 25000999, 25123845, 25130271, 25618241, 26071255, 26786102, 27447901, 27474750, 28085790, 28382154, 30078221, 31190084, 8263129, 8290389, 8698313, 8973690, 9254895, 9518259		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16340751		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11920609, 12618892, 15860930, 16214932, 17433039, 18799374, 19337254, 20033794, 20871033, 21274378, 22127425, 22977193, 23403233, 23995782, 24718752, 24728052, 25111897, 25592989, 25964549, 27259812, 27821098, 28681313, 29151694, 29270876, 29379775, 31749879, 7889468, 9175212		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	31218705		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	15707585, 16940797, 24973511, 31443247		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	24346284, 25677871		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10811126, 10995035, 11507076, 12050554, 16685269, 1681040, 22922989, 23698120, 24126741, 31584195		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10198059, 10725459, 10810374, 10989985, 11255078, 11676861, 11710837, 11737891, 11890870, 11916239, 11955611, 12188912, 12437479, 12849999, 14639658, 15087376, 15154665, 15281090, 15383325, 15663953, 15746676, 15857289, 15870435, 15993840, 16061662, 16185155, 16214932, 16428382, 1657191, 1685773, 17001676, 17031562, 1718591, 17374733, 17404027, 17418864, 17473192, 17636266, 17670948, 17701904, 17909010, 17940864, 18020911, 18023415, 18221038, 18369180, 18575766, 18690849, 18790770, 18799374, 18849352, 19082487, 19124237, 19192961, 19236065, 19319135, 19403524, 19444920, 19823871, 1983869, 19900104, 20033794, 20108217, 20190463, 20203692, 20207214, 20364069, 20404484, 20404701, 20487573, 20587521, 21592959, 21642355, 21725367, 21931851, 21965749, 21976708, 22009535, 22070650, 22086906, 22179434, 22199345, 22203985, 22307599, 22315226, 22457050, 22475688, 22734003, 22761403, 22772467, 22782629, 22825581, 22829952, 22922989, 23083134, 23125191, 23207070, 23284962, 23481102, 23492369, 23548265, 23644655, 23932319, 23963773, 24192126, 24240702, 24241683, 24260469, 24268047, 24295852, 24346967, 24685520, 24705809, 24740103, 24743239, 24746824, 24771221, 24789258, 24945379, 25124796, 25410594, 25510664, 25596749, 25757687, 26209696, 26295963, 26398511, 26531758, 26774845, 26892017, 27234159, 27267999, 27797381, 2787842, 27910913, 27926487, 27935858, 27959571, 28112359, 28178204, 2837611, 28482566, 28705384, 28791656, 29018892, 29135000, 29277356, 29410730, 29420611, 29501977, 29574771, 29661145, 29665393, 29695553, 29702367, 29843953, 29876540, 30035369, 30068575, 30096806, 30152597, 30471113, 30544639, 30575377, 30636671, 30671888, 30680959, 30783937, 30794990, 30799684, 30866419, 30867817, 30868964, 30941306, 31060243, 31088266, 31323001, 31554859, 31723153, 31829747, 7954262, 8094290, 8133992, 8562334, 8726462, 8968087, 8973690, 9187911, 9252679, 9458358		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	10791998, 17558420, 18650488, 18927496		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	1685773, 22687945		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17316357, 17894388, 21358296, 21946890, 23936413, 28498437, 29777148		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10362109, 15138601, 15353309, 15832373, 16139803, 16619503, 17222808, 19492417, 19781065, 21639915, 21642355, 21646361, 21653642, 22621366, 22956286, 23547110, 23827854, 24792576, 25212605, 27730672, 2912554, 29137335, 29515334, 30226622, 30596555, 31088266, 31717527, 7750206, 9703869, 9816209		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16175315, 21942447, 23064031		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	BEFREE	3017397		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10717621, 10882298, 11356703, 11796827, 12781365, 19070659, 2103505, 21390186, 22697792, 2364377, 23689072, 23911287, 2435565, 26215578, 26215677, 27632571, 29382783, 31404982, 31695034, 31766464, 7545416, 9014756, 9038618		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12531699, 14676838, 15272014, 15798095, 17612563, 17940864, 18271972, 18467441, 18990689		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16175315, 21942447, 23064031		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16175315, 21942447, 23064031		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	25808869		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	10486319, 11278305, 1569206, 7762551, 8116614, 8406497, 8653794, 8863159	Associate	★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	10766875, 1301946, 1569206, 15776436, 18379569, 22772377, 8040326, 8406497, 8653794, 8894692		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	30541042		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	3017397		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	18756447, 23231950, 23766359		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25052069, 32818841	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28706234		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11416160, 11844511, 15087376, 15373781, 16691190, 17409413, 19003995, 2056188, 21602881, 2293915, 22951722, 22951723, 23201894, 23239741, 23242808, 24366194, 25537294, 25749811, 28219779, 28349327, 29221137, 30061268, 30569717, 30718742, 8471834		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15373781, 16691190, 16847433, 19624835, 22456166, 22951722, 25749811, 26035829, 26967478, 27702651, 33916908, 37944197	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34697202	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	16691190	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	1828169, 21227570, 28367377, 29948766, 7754837, 8133992, 8687119		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28501736		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	22504456, 28501736		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	30499112, 30501113, 7947089		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	12612292	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	23188829		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	Minicore myopathy with external ophthalmoplegia	BEFREE	27460346		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	15788397	Stimulate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	28392427		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23778523, 25229239, 8286215	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	23778523		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	26499313		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11971193, 15735670, 16732320, 30621731		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16732320, 34592762	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31100693		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	29034878		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	3464613		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12375030		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	27835972	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30773943, 31794514		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36230978	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	18202785, 27285994		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	27285994, 27393708	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	17458518, 17908353, 18202777, 18722874, 19588483, 29551087, 29740251, 31665243		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29551087	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	1698031	Stimulate	★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	14765365, 29636182, 30771819		★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	LHGDN	15183666		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	14765365, 16472592, 20920709, 27314851, 28315470, 28953531, 29636182, 30771819		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10029453, 10063240, 10067810, 10070255, 10523688, 10606181, 10610727, 10673534, 10717621, 10786684, 10797285, 10881027, 10882298, 10882299, 11001946, 11053991, 11083073, 11173124, 11255078, 11359909, 11459457, 11485826, 11763417, 11891317, 11920609, 12097286, 12114431, 12120231, 12127860, 12375030, 12833133, 12841683, 12850474, 12967482, 1374522, 1380804, 1444575, 14520709, 14612509, 14660794, 14735165, 14973082, 15068392, 15084247, 15093813, 15095293, 15097858, 15289334, 15308179, 15329413, 15373782, 15386373, 15389583, 15520165, 15528389, 15531726, 15564150, 15707585, 15735564, 15754342, 15860930, 1594497, 1596891, 16010410, 16076471, 16168116, 16205632, 16207795, 16462207, 16487928, 16507913, 1657798, 1660689, 16630129, 16697959, 1671751, 1675468, 16788982, 16825508, 16890381, 1701094, 17108114, 17316357, 1733967, 17418864, 1746909, 17537730, 17588166, 17597605, 17685929, 17912028, 17962208, 18154448, 18245533, 1828169, 18384514, 18441512, 18506556, 18519753, 18571008, 18773861, 18813355, 19082487, 19116006, 19236065, 19378758, 19444920, 19515085, 19602687, 19622585, 1971522, 19900104, 19903771, 20039326, 20080707, 20101173, 20175032, 20190463, 20303009, 20388509, 20404701, 20407013, 20459769, 20538380, 20563247, 20628392, 20694527, 20925961, 21087933, 21094134, 2115198, 21354147, 21465472, 21565925, 21639915, 21688263, 21746895, 21766299, 21766499, 21882253, 21896743, 21971700, 22009535, 22127425, 22170383, 22296186, 22329800, 22362419, 22490227, 22552292, 22594891, 22891331, 22901561, 22951723, 22952421, 23028903, 23097626, 23136193, 23207070, 23284962, 23333074, 23344264, 23371860, 23374602, 23405260, 23493311, 2354442, 23560377, 2364377, 23689072, 23728339, 23802848, 23857061, 24389815, 24425785, 24718752, 24789258, 2497975, 2498085, 25046405, 25068296, 25184905, 25230579, 25249545, 2537147, 25429076, 25629371, 2564657, 25653196, 25677871, 25686822, 25796091, 25803810, 26005723, 26027741, 2605216, 26429962, 26543230, 26572150, 26620497, 26673416, 26821068, 26892017, 2697181, 26990359, 27127175, 2713242, 27164304, 27165742, 27507810, 27764813, 2787842, 28049295, 28098905, 28128743, 28193671, 28243121, 2834047, 28454283, 28498437, 28535417, 28638474, 28706234, 28717399, 28791656, 28828496, 28844984, 28991362, 2908290, 29155210, 29162693, 29268862, 29315755, 29382784, 29502423, 29556616, 29624182, 29695553, 29729689, 2981413, 29904166, 2992090, 2995289, 29956719, 2998607, 2998610, 3001641, 30017980, 30026329, 30033447, 30129142, 3017397, 30221739, 30226622, 30404182, 3049629, 30514247, 30736768, 30779072, 31004648, 31066673, 31075975, 31088266, 31104010, 31159758, 31268623, 31273954, 31404982, 31584195, 31706737, 31717527, 31822629, 3380099, 3426916, 3486977, 3494689, 3500513, 7529189, 7683573, 7723282, 7766308, 7814146, 7881101, 7889468, 7901229, 7954262, 7956924, 7988452, 8077059, 8094290, 8099529, 8181854, 8262681, 8294454, 8357601, 8390290, 8491760, 8522726, 8562334, 8574972, 8636285, 8834768, 9060958, 9187911, 9191980, 9253031, 9254895, 9335455, 9397949, 9446590, 9605408, 9641888, 9642680, 9652737, 9659582, 9683296, 9815602, 9815714, 9816055, 9839451, 9849427		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	17361117	Associate	★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	8648906	Inhibit	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	10547607		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	20303009		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	16462207, 17558420, 29948766		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10737605, 15492265, 15605081, 15930297, 24003223, 2464605, 30964607		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10737605, 12358735, 21833997, 23144874, 35563171	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	16872636		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31104296		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	23577150, 7860139		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	17558420, 1828169, 18650488		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	17558420, 18650488		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	10791998, 17031562, 18927496		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	1828169		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	17558420, 18650488, 18927496	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28436077		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31063974		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11710837, 12850190, 14704124, 15153803, 15870435, 16185155, 16505275, 16633328, 1690210, 16956694, 17082181, 17296816, 17597605, 18020911, 18243402, 18303439, 18347147, 18379349, 18687633, 18692155, 18849352, 19102716, 19124237, 19305428, 20388507, 20522446, 20628392, 20701442, 20802349, 20942630, 21273181, 21658788, 21777670, 22457050, 22552292, 22753918, 22821179, 22859339, 22863020, 22894673, 23037767, 23136193, 23229345, 23249107, 23334845, 23382048, 23469969, 23492369, 23617344, 23686837, 23748694, 23771370, 23794705, 23883584, 23894143, 23932319, 23979919, 24023334, 24065731, 24088065, 24108744, 24134422, 24134423, 24192124, 24471765, 24496038, 24501009, 24662916, 24705809, 24750242, 24754585, 24789032, 24982409, 25028095, 25114510, 25257143, 25272226, 25341405, 25572790, 25629371, 25653196, 25675121, 26043215, 26149460, 26260811, 26295963, 26314834, 26497899, 26625757, 26627242, 27268079, 27477696, 27935858, 28144730, 28153500, 28256196, 2830015, 28341875, 28460483, 28534470, 28554854, 28600491, 28656237, 28713976, 28749535, 28777825, 28787156, 28819306, 28822887, 28832323, 28881820, 28891180, 29031620, 29071523, 29275314, 29455656, 29545853, 29661145, 29689709, 29749533, 29751136, 29843041, 29934325, 29936901, 29983578, 30017980, 30176786, 30318082, 30555330, 30724772, 30738830, 30868964, 30959819, 31028739, 31132355, 31218108, 31492766, 31495334, 31497071, 31516572, 31586902, 31754402, 31786944, 31829747, 9815714		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	11356684, 1673338		★☆☆☆☆ Found in Text Mining only
Nongerminomatous Germ Cell Tumor	Nongerminomatous Tumor	BEFREE	29483210		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11922634, 24116709, 26787627, 28840653, 31063974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	36996194	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	11517301		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	10748057, 11001946		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	28045958, 30322002		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	31467541		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	31720992		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	23608378		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32620113, 36451445, 40496565	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	11955611, 12544770, 16516410, 16683887, 25987128, 29018288, 29363485, 29617357, 29628496, 29751634, 30008917, 30622805, 30723510		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	19670450, 29617357, 29751634, 32665038	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	10811499, 26572150		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	25060396		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	16394028, 32762950	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12879019		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	14639658, 15921680, 16000575, 17045920, 17475671, 18423824, 18852147, 19144868, 19864325, 22315226, 26122654, 26378042, 26572150, 27913862, 28668900, 31062668, 7954262, 9605408		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10081495, 10811499, 1325950, 17322388, 19144868, 19608641, 20412119, 21643014, 22315226, 22430797, 22479527, 23172893, 24721622, 25533808, 26476080, 26489763, 28627617, 36324187, 36828346, 7669570	Associate	★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	31720992		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11469683, 11590324, 1401070, 14519080, 14599602, 15365564, 16171565, 16340751, 21729304, 21967400, 22761868, 22990108, 23376846, 23426533, 23469969, 24096486, 25483102, 25686822, 26109002, 26709750, 26796281, 27035876, 28604742, 29072694, 29125273, 3014534, 30464258, 30968148, 31013436, 31492766, 3571280, 8575229, 8980184		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	10891365, 16678855, 17096356, 22975375, 26279302, 27797376		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	1401070, 17875687, 25217521		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17950068, 19110611		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12910515, 14521721, 15801978, 17452424, 21573184, 21729304, 22087246, 23426533, 25118635, 27035876, 31182586, 32696951, 35197444, 37503752, 8260363, 8751604	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	10891365, 29125273		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	31348324		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12213214, 15735020, 8097390		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	10969784		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	17592548	Associate	★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic Syndromes	BEFREE	2191051		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	18216322, 25294851		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21520231, 24757111		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21520231, 40405084	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	29695553, 30903320		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28207941, 31784929		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34592884	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nerve Sheath Neoplasm	Peripheral Nerve Sheath Neoplasm	BEFREE	17558420		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28436077		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	11152283, 11288140		★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	20404701		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	31191457		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	30587833		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	25695223		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	16797938, 31488014, 36914219	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	20519437, 31488014		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	11245774, 1739078, 22570239, 2475661, 28077374, 8280123		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15878924, 26416764, 26908109, 29977916, 9856409		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26908109, 31251011, 34107718, 34480296, 37125425, 8654631	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia primary familial and congenital	Polycythemia, primary familial and congenital	Pubtator	24533580	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	20131286		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	27161247	Associate	★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	15988409, 17724219, 20332668, 29975931, 31605630		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10398277, 10579352, 10881027, 11668495, 11710837, 12643788, 12746839, 12841683, 14617787, 14734484, 15452555, 15455380, 16018936, 16238095, 16541421, 16804520, 16954433, 17108114, 17163422, 17912451, 18023415, 18253818, 18519765, 19320436, 19356736, 19488063, 19787273, 20538380, 20687230, 21571867, 21784672, 21878636, 22110740, 22461520, 22974583, 23661635, 23757299, 23824605, 24126741, 24296312, 24435707, 2468269, 24796332, 25000999, 25123845, 25130271, 25618241, 26071255, 26786102, 27447901, 27474750, 28085790, 28382154, 30078221, 31190084, 8263129, 8290389, 8698313, 8973690, 9254895, 9518259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Diseases	Prostatic Diseases	BEFREE	10579352		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	LHGDN	16820871		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10360641, 11330643, 12841683, 15720812, 16728406, 16847055, 1739613, 17977648, 18036246, 18645679, 19143022, 19296525, 19544333, 20628053, 21640721, 21784672, 22249256, 23188829, 23637932, 23824605, 24885093, 27474750, 30078221, 31345230, 31995655, 32660355, 34696665, 36361790, 36623397, 39780215	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14662770, 15886816, 16728406, 16820871, 16847055, 18036246, 18511414, 18519765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	14991862, 1692888, 17003496, 19152342, 19794963, 8077059, 8290389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16238095, 20687230	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16340751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	12835543, 17221218, 17244028, 2191051, 2794219, 28621164, 29843550, 7636313, 8980296		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	17204151, 33153894	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	12835543		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	12547714		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28345955	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	17172260		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	17266442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29118928, 29474926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Raynaud Phenomenon	Raynaud Phenomenon	BEFREE	29044628		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	11506951, 21673069		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	1718587		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15492822, 1596891, 1718587, 17206887, 1973362, 20203692, 22736024, 2294252, 2354442, 24192126, 25909813, 27453294, 28128743, 8600053, 8886918, 9143403, 9187911, 9664910, 9820173		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31676723		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30537946		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	19010984		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	17050278, 29191924		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10775529		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	35816039	Associate	★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	Pubtator	33601057	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	11267936		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	11267936	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	15481063, 8752155		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12444174, 19680656, 25089940, 29998825		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	33626956	Inhibit	★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	BEFREE	1303248, 7785704, 8071964, 8266997, 8940274		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	22170793		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	19174819	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	11641969	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	18506556, 23431153, 28193671, 29552283, 9458358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	18506556	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	15129177, 15614591, 15663953, 15729146, 16115648, 16979250, 20218926, 24389010, 28579429, 31097747		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	20161799, 26462502	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	12794834		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	31178673	Associate	★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	15937810, 28104586		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	18154448, 22467075, 23325582, 23560377, 23922111, 24701697, 25520391, 26220150, 28539619, 28649886, 31358848		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27465753, 28078348, 28086962, 31747882		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	28468787		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	26644074, 29683361, 29862299, 30093649		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	10943841, 18177484		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	23430747	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	35491659	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	25028172		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10770635, 1317257, 16361567, 2830015, 28891180, 3032412, 3096922		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37215577, 39353908	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 15 autosomal recessive	Spastic paraplegia	Pubtator	30081747	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	17204151	Associate	★☆☆☆☆ Found in Text Mining only
Spondylo-ocular syndrome	Spondyloocular Syndrome	BEFREE	27427915		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	26499313		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10969784, 11536950, 12384986, 15238218, 1624295, 1733967, 18497965, 18507008, 18607838, 18773861, 19673887, 20121928, 20181947, 20586780, 20621058, 2179534, 22296186, 22349826, 2285597, 22944050, 23018838, 23207070, 23383347, 24116709, 2458359, 2477267, 2497975, 2713242, 2824387, 2870269, 28892050, 2984254, 29843953, 2995289, 2998610, 30026329, 3015849, 30197274, 30226622, 3096922, 31075867, 31601953, 31794546, 3260374, 3283124, 3668732, 6296169, 7575678, 8005561, 8111720, 8307175, 8315111, 8612508, 9022753, 9247974, 9398658, 9513602, 9930679		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	12851697, 17195908, 17912028, 19172394, 19823871, 20502940, 21429221, 24945674, 26760981, 28243112, 28498434		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18594017, 20429940, 20621058, 23047035, 23405260, 25024430, 25229239, 25622907, 27797381, 27888616, 30017201, 30414263, 31601953, 31794546, 32069320, 35054968, 37679666	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19484147	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	22592160, 8315111		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15476268, 19236065, 19484147, 19828002, 20856931, 21355076, 23213056, 23405260, 23576557, 23723125, 23730900, 24379084, 24941990, 25622907, 25797258, 27035284, 27797381, 28596235, 29297949, 30226622, 30845713		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	24346284, 29845251		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	27942854, 29473663		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	29394136, 9458358		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12618892, 15860930, 16214932, 17433039, 18799374, 20033794, 20871033, 21274378, 22127425, 22977193, 23403233, 23995782, 24718752, 24728052, 25085584, 25111897, 25592989, 25964549, 27259812, 27821098, 28681313, 29151694, 29270876, 31749879, 7889468, 9175212		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	29379775		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12618892, 15647181, 17433039, 20164030, 20430735, 2108945, 21274378, 2168868, 23028903, 23511561, 23613900, 23840737, 24068402, 24728052, 24887009, 25085584, 2511181, 25779663, 26830684, 27821098, 28275299, 30787271, 32881844, 37904473, 7819044, 9422527	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	19020743		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	28045958, 30322002		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29342116		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	22537155		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11083269, 12794834, 29044628, 30536805, 30866419		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	19780835		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	Pubtator	34275420	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	3390372	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15707585, 16940797, 2175702, 24973511, 25773758, 31443247, 7860139		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25742642, 29236027	Associate	★☆☆☆☆ Found in Text Mining only
THYROID CARCINOMA, SPORADIC MEDULLARY	Thyroid Carcinoma	BEFREE	9247102		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	12414513, 15707585, 16940797, 24973511, 31443247		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	17397984, 18813355		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	12733712, 17158762, 36094870	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	12733712	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	8493451	Stimulate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	2808704, 3487976		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	19150933, 23921085, 26840086, 34718348, 38052106	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22472120, 22926263, 23689072, 23921085, 24337110, 24634415, 24725360, 25175149, 25344583, 25779666, 26950360, 26976794, 27816751, 27817751, 28088463, 28189497, 28356948, 29041905, 29140689, 29344641, 29438695, 29502423, 29805641, 29963110, 30146351, 30226569, 31190337, 31706737		★☆☆☆☆ Found in Text Mining only
Troyer syndrome	Troyer Syndrome	BEFREE	17332501		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	16192644, 24606538	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	18958173, 31488014		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30425334		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	31838197		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	22504456, 30583255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	22504456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	1939154	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15583696, 22922989, 23300058, 30413194, 3316242, 9683296	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	25596749		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	26880792	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	7544060		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	11461094, 12967482, 17316357, 23284982, 23936413, 25124631, 29777148, 32319576, 36594087, 8618825	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	15536154, 1936340, 21821245, 26702771, 28875276, 29729689, 8575689		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	20061986, 23849826, 30702560		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	32957329	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	27873479		★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	24741602	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	11922634		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	15734884, 8432873	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	29724728		★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous insufficiency	Pubtator	24741602	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	28191787		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	28191787		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	21921047	Inhibit	★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	24041696		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30664180	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group G	Xeroderma pigmentosum	Pubtator	26149386	Associate	★☆☆☆☆ Found in Text Mining only