KDR (kinase insert domain receptor)

Gene

• Entrez ID: 3791
• Gene name: Kinase insert domain receptor
• Gene symbol: KDR
• Synonyms (NCBI Gene): CD309, FLK1, VEGFR, VEGFR2
• Chromosome: 4
• Chromosome location: 4q12
• Summary: Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34231037	A>G	Likely-benign, risk-factor	Missense variant, coding sequence variant
rs121917766	G>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006277	hsa-miR-19b-1-5p	Luciferase reporter assay	22197821
MIRT006442	hsa-miR-200b-3p	Luciferase reporter assay, Western blot	21544626
MIRT006277	hsa-miR-19b-1-5p	Luciferase reporter assay	22197821
MIRT006442	hsa-miR-200b-3p	Luciferase reporter assay, Western blot	21544626
MIRT006277	hsa-miR-19b-1-5p	Luciferase reporter assay	22197821
MIRT006442	hsa-miR-200b-3p	Luciferase reporter assay, Western blot	21544626
MIRT006794	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	21885851
MIRT016978	hsa-miR-335-5p	Microarray	18185580
MIRT052945	hsa-miR-1236-3p	qRT-PCR, Western blot	22223733
MIRT053084	hsa-miR-17-3p	Luciferase reporter assay, qRT-PCR, Western blot	23258273
MIRT006442	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	22499991
MIRT006442	hsa-miR-200b-3p	Luciferase reporter assay, qRT-PCR, Western blot	22499991
MIRT437786	hsa-miR-15b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23688497
MIRT531796	hsa-miR-548aa	PAR-CLIP	22012620
MIRT531795	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT531794	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT531793	hsa-miR-548as-3p	PAR-CLIP	22012620
MIRT531792	hsa-miR-548at-3p	PAR-CLIP	22012620
MIRT531791	hsa-miR-548ay-3p	PAR-CLIP	22012620
MIRT531790	hsa-miR-4799-5p	PAR-CLIP	22012620
MIRT733145	hsa-miR-155-5p	qRT-PCR	31766503
MIRT733148	hsa-miR-34a-5p	qRT-PCR	31766503
MIRT734456	hsa-miR-338-3p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33837886
MIRT531796	hsa-miR-548aa	PAR-CLIP	22012620
MIRT531795	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT531794	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT531793	hsa-miR-548as-3p	PAR-CLIP	22012620
MIRT531792	hsa-miR-548at-3p	PAR-CLIP	22012620
MIRT531791	hsa-miR-548ay-3p	PAR-CLIP	22012620
MIRT531790	hsa-miR-4799-5p	PAR-CLIP	22012620
MIRT756468	hsa-miR-182-5p	qRT-PCR	38796528
MIRT1085014	hsa-miR-1224-3p	CLIP-seq
MIRT1085015	hsa-miR-1260	CLIP-seq
MIRT1085016	hsa-miR-1260b	CLIP-seq
MIRT1085017	hsa-miR-1280	CLIP-seq
MIRT1085018	hsa-miR-1343	CLIP-seq
MIRT1085019	hsa-miR-1909	CLIP-seq
MIRT1085020	hsa-miR-214	CLIP-seq
MIRT1085021	hsa-miR-3140-3p	CLIP-seq
MIRT1085022	hsa-miR-3192	CLIP-seq
MIRT1085023	hsa-miR-328	CLIP-seq
MIRT1085024	hsa-miR-3619-5p	CLIP-seq
MIRT1085025	hsa-miR-3646	CLIP-seq
MIRT1085026	hsa-miR-378g	CLIP-seq
MIRT1085027	hsa-miR-4253	CLIP-seq
MIRT1085028	hsa-miR-4437	CLIP-seq
MIRT1085029	hsa-miR-4674	CLIP-seq
MIRT1085030	hsa-miR-4710	CLIP-seq
MIRT1085031	hsa-miR-4786-5p	CLIP-seq
MIRT1085032	hsa-miR-4792	CLIP-seq
MIRT1085033	hsa-miR-532-3p	CLIP-seq
MIRT1085034	hsa-miR-558	CLIP-seq
MIRT1085035	hsa-miR-583	CLIP-seq
MIRT1085036	hsa-miR-761	CLIP-seq
MIRT1085037	hsa-miR-769-5p	CLIP-seq
MIRT1085014	hsa-miR-1224-3p	CLIP-seq
MIRT1085015	hsa-miR-1260	CLIP-seq
MIRT1085016	hsa-miR-1260b	CLIP-seq
MIRT1085017	hsa-miR-1280	CLIP-seq
MIRT2021635	hsa-miR-1298	CLIP-seq
MIRT1085018	hsa-miR-1343	CLIP-seq
MIRT2021636	hsa-miR-149	CLIP-seq
MIRT2021637	hsa-miR-3064-5p	CLIP-seq
MIRT1085022	hsa-miR-3192	CLIP-seq
MIRT2021638	hsa-miR-3616-5p	CLIP-seq
MIRT2021639	hsa-miR-3647-5p	CLIP-seq
MIRT1085026	hsa-miR-378g	CLIP-seq
MIRT1085028	hsa-miR-4437	CLIP-seq
MIRT1085029	hsa-miR-4674	CLIP-seq
MIRT2021640	hsa-miR-4773	CLIP-seq
MIRT2021641	hsa-miR-4775	CLIP-seq
MIRT2021642	hsa-miR-4794	CLIP-seq
MIRT1085033	hsa-miR-532-3p	CLIP-seq
MIRT1085034	hsa-miR-558	CLIP-seq
MIRT2021643	hsa-miR-573	CLIP-seq
MIRT2021644	hsa-miR-590-3p	CLIP-seq
MIRT2021645	hsa-miR-664	CLIP-seq
MIRT1085014	hsa-miR-1224-3p	CLIP-seq
MIRT1085015	hsa-miR-1260	CLIP-seq
MIRT1085016	hsa-miR-1260b	CLIP-seq
MIRT1085017	hsa-miR-1280	CLIP-seq
MIRT1085018	hsa-miR-1343	CLIP-seq
MIRT2021636	hsa-miR-149	CLIP-seq
MIRT2021637	hsa-miR-3064-5p	CLIP-seq
MIRT1085022	hsa-miR-3192	CLIP-seq
MIRT2253149	hsa-miR-3545-3p	CLIP-seq
MIRT2021638	hsa-miR-3616-5p	CLIP-seq
MIRT2021639	hsa-miR-3647-5p	CLIP-seq
MIRT2253150	hsa-miR-3663-5p	CLIP-seq
MIRT1085026	hsa-miR-378g	CLIP-seq
MIRT2253151	hsa-miR-3942-3p	CLIP-seq
MIRT1085028	hsa-miR-4437	CLIP-seq
MIRT2253152	hsa-miR-4635	CLIP-seq
MIRT1085029	hsa-miR-4674	CLIP-seq
MIRT2253153	hsa-miR-4680-5p	CLIP-seq
MIRT2021640	hsa-miR-4773	CLIP-seq
MIRT2021641	hsa-miR-4775	CLIP-seq
MIRT2021642	hsa-miR-4794	CLIP-seq
MIRT1085033	hsa-miR-532-3p	CLIP-seq
MIRT1085034	hsa-miR-558	CLIP-seq
MIRT2021643	hsa-miR-573	CLIP-seq
MIRT2021644	hsa-miR-590-3p	CLIP-seq
MIRT2253154	hsa-miR-618	CLIP-seq
MIRT2253155	hsa-miR-642b	CLIP-seq
MIRT1085022	hsa-miR-3192	CLIP-seq
MIRT1085034	hsa-miR-558	CLIP-seq
MIRT2452340	hsa-miR-3155	CLIP-seq
MIRT2452341	hsa-miR-3155b	CLIP-seq
MIRT2452342	hsa-miR-3925-3p	CLIP-seq
MIRT2452343	hsa-miR-484	CLIP-seq
MIRT2452344	hsa-miR-586	CLIP-seq
MIRT2465523	hsa-miR-338-5p	CLIP-seq
MIRT2465524	hsa-miR-369-3p	CLIP-seq
MIRT2465525	hsa-miR-374c	CLIP-seq
MIRT2465526	hsa-miR-4666-3p	CLIP-seq
MIRT2465527	hsa-miR-576-3p	CLIP-seq
MIRT2465528	hsa-miR-655	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Unknown	20516113
ESR1	Activation	16574784
HEY1	Repression	16782059;17028039;18694572
NANOG	Activation	21119109
NANOG	Activation	21119109
PTTG1	Activation	16926250
SP1	Repression	16678129
SP3	Activation	16574784
SP3	Repression	16678129
SP4	Activation	16574784
SP4	Repression	16678129

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	TAS	10022831
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IMP	23688497
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	19033661
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IMP	10022831, 11387210
GO:0001944	Process	Vasculature development	IEA
GO:0001945	Process	Lymph vessel development	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002070	Process	Epithelial cell maturation	IEA
GO:0003157	Process	Endocardium development	IEA
GO:0003158	Process	Endothelium development	IEA
GO:0003158	Process	Endothelium development	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	EXP	7999104, 9398617, 10037737, 15962004
GO:0004713	Function	Protein tyrosine kinase activity	IDA	10037737
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	1417831
GO:0005021	Function	Vascular endothelial growth factor receptor activity	IBA
GO:0005021	Function	Vascular endothelial growth factor receptor activity	IDA	1417831, 10022831, 10102632, 11387210, 15215251
GO:0005021	Function	Vascular endothelial growth factor receptor activity	IEA
GO:0005178	Function	Integrin binding	IPI	10022831, 30873824
GO:0005515	Function	Protein binding	IPI	1417831, 12509223, 15985432, 16530705, 16763549, 16966330, 17222790, 17293873, 18377662, 18662404, 18936167, 18997771, 19033661, 20145116, 20224550, 20660291, 21130043, 21596751, 21653826, 21893193, 22789536, 22897854, 23374253, 23529610, 23583373, 24529377, 25187647, 25825981, 2589
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IDA	23262137
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	23529610
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	23262137
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10102632, 23262137, 25825981
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	1656371
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	1417831
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	7929439
GO:0008360	Process	Regulation of cell shape	IDA	7929439
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	10022831
GO:0010629	Process	Negative regulation of gene expression	IDA	26879375
GO:0015026	Function	Coreceptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016239	Process	Positive regulation of macroautophagy	IGI	23798385
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	10037737, 10102632
GO:0019838	Function	Growth factor binding	IBA
GO:0019838	Function	Growth factor binding	IEA
GO:0019838	Function	Growth factor binding	IPI	1417831, 10022831
GO:0030054	Component	Cell junction	IEA
GO:0030054	Component	Cell junction	ISS
GO:0030097	Process	Hemopoiesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0030335	Process	Positive regulation of cell migration	IDA	7929439
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035162	Process	Embryonic hemopoiesis	IEA
GO:0035162	Process	Embryonic hemopoiesis	ISS
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IDA	10102632, 11387210, 19033661, 21885851, 23529610
GO:0036324	Process	Vascular endothelial growth factor receptor-2 signaling pathway	IMP	15215251, 24205206
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IDA	21885851
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IEA
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IMP	10022831, 23688497
GO:0038085	Function	Vascular endothelial growth factor binding	IPI	20660291, 25825981
GO:0042802	Function	Identical protein binding	IPI	17293873, 20080685, 20660291
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043129	Process	Surfactant homeostasis	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043408	Process	Regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	11387210
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IMP	22499991, 23688497, 26879375
GO:0045121	Component	Membrane raft	IDA	23262137
GO:0045165	Process	Cell fate commitment	IEA
GO:0045296	Function	Cadherin binding	IPI	11950700, 25893857
GO:0045446	Process	Endothelial cell differentiation	IBA
GO:0045446	Process	Endothelial cell differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IBA
GO:0045766	Process	Positive regulation of angiogenesis	IDA	23896411
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IMP	26879375, 28637396
GO:0046777	Process	Protein autophosphorylation	IDA	10037737, 10102632, 19033661
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IDA	10102632, 11387210, 21885851
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IMP	23529610
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:0048286	Process	Lung alveolus development	IEA
GO:0048597	Process	Post-embryonic camera-type eye morphogenesis	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:0050927	Process	Positive regulation of positive chemotaxis	IDA	7929439
GO:0051879	Function	Hsp90 protein binding	TAS	19267251
GO:0051894	Process	Positive regulation of focal adhesion assembly	IDA	12820653
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	9804796
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	24863063
GO:0051901	Process	Positive regulation of mitochondrial depolarization	IGI	23798385
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0060562	Process	Epithelial tube morphogenesis	IEA
GO:0060837	Process	Blood vessel endothelial cell differentiation	IEA
GO:0061042	Process	Vascular wound healing	IMP	22499991, 23688497
GO:0070161	Component	Anchoring junction	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	24863063
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	IEA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	IMP	18977327, 24205206
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	ISS
GO:0090141	Process	Positive regulation of mitochondrial fission	IGI	23798385
GO:0097443	Component	Sorting endosome	IEA
GO:0097443	Component	Sorting endosome	ISS
GO:0141150	Process	Positive regulation of nitric oxide-cGMP mediated signal transduction	IDA	10600473
GO:0141150	Process	Positive regulation of nitric oxide-cGMP mediated signal transduction	IMP	9837777
GO:1901532	Process	Regulation of hematopoietic progenitor cell differentiation	IEA
GO:1903010	Process	Regulation of bone development	IEA
GO:1904881	Process	Cellular response to hydrogen sulfide	IDA	26879375
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IDA	9804796
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2001028	Process	Positive regulation of endothelial cell chemotaxis	IDA	21885851
GO:2001214	Process	Positive regulation of vasculogenesis	IEA
GO:2001214	Process	Positive regulation of vasculogenesis	ISS

Other IDs

• MIM: 191306
• HGNC: 6307
• e!Ensembl: ENSG00000128052

Protein

• UniProt ID: P35968
• Protein name: Vascular endothelial growth factor receptor 2 (VEGFR-2) (EC 2.7.10.1) (Fetal liver kinase 1) (FLK-1) (Kinase insert domain receptor) (KDR) (Protein-tyrosine kinase receptor flk-1) (CD antigen CD309)
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation,
• PDB: 1VR2, 1Y6A, 1Y6B, 1YWN, 2M59, 2MET, 2MEU, 2OH4, 2P2H, 2P2I, 2QU5, 2QU6, 2RL5, 2X1W, 2X1X, 2XIR, 3B8Q, 3B8R, 3BE2, 3C7Q, 3CJF, 3CJG, 3CP9, 3CPB, 3CPC, 3DTW, 3EFL, 3EWH, 3KVQ, 3S35, 3S36, 3S37, 3U6J, 3V2A, 3V6B, 3VHE, 3VHK, 3VID, 3VNT, 3VO3, 3WZD, 3WZE, 4AG8, 4AGC, 4AGD, 4ASD, 4ASE, 5EW3, 5OYJ, 6GQO, 6GQP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00047	ig	229 → 321	Immunoglobulin domain	Domain
  PF07679	I-set	333 → 417	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	550 → 646		Domain
  PF07679	I-set	667 → 754	Immunoglobulin I-set domain	Domain
  PF17988	VEGFR-2_TMD	759 → 793	VEGFR-2 Transmembrane domain	Domain
  PF07714	PK_Tyr_Ser-Thr	834 → 1160	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in cornea (at protein level). Widely expressed. {ECO:0000269|PubMed:19668192}.
• Sequence:

  MQSKVLLAVALWLCVETRAASVGLPSVSLDLPRLSIQKDILTIKANTTLQITCRGQRDLD
  WLWPNNQSGSEQRVEVTECSDGLFCKTLTIPKVIGNDTGAYKCFYRETDLASVIYVYVQD
  YRSPFIASVSDQHGVVYITENKNKTVVIPCLGSISNLNVSLCARYPEKRFVPDGNRISWD
  SKKGFTIPSYMISYAGMVFCEAKINDESYQSIMYIVVVVGYRIYDVVLSPSHGIELSVGE
  KLVLNCTARTELNVGIDFNWEYPSSKHQHKKLVNRDLKTQSGSEMKKFLSTLTIDGVTRS
  DQGLYTCAASSGLMTKKNSTFVRVHEKPFVAFGSGMESLVEATVGERVRIPAKYLGYPPP
  EIKWYKNGIPLESNHTIKAGHVLTIMEVSERDTGNYTVILTNPISKEKQSHVVSLVVYVP
  PQIGEKSLISPVDSYQYGTTQTLTCTVYAIPPPHHIHWYWQLEEECANEPSQAVSVTNPY
  PCEEWRSVEDFQGGNKIEVNKNQFALIEGKNKTVSTLVIQAANVSALYKCEAVNKVGRGE
  RVISFHVTRGPEITLQPDMQPTEQESVSLWCTADRSTFENLTWYKLGPQPLPIHVGELPT
  PVCKNLDTLWKLNATMFSNSTNDILIMELKNASLQDQGDYVCLAQDRKTKKRHCVVRQLT
  VLERVAPTITGNLENQTTSIGESIEVSCTASGNPPPQIMWFKDNETLVEDSGIVLKDGNR
  NLTIRRVRKEDEGLYTCQACSVLGCAKVEAFFIIEGAQEKTNLEIIILVGTAVIAMFFWL
  LLVIILRTVKRANGGELKTGYLSIVMDPDELPLDEHCERLPYDASKWEFPRDRLKLGKPL
  GRGAFGQVIEADAFGIDKTATCRTVAVKMLKEGATHSEHRALMSELKILIHIGHHLNVVN
  LLGACTKPGGPLMVIVEFCKFGNLSTYLRSKRNEFVPYKTKGARFRQGKDYVGAIPVDLK
  RRLDSITSSQSSASSGFVEEKSLSDVEEEEAPEDLYKDFLTLEHLICYSFQVAKGMEFLA
  SRKCIHRDLAARNILLSEKNVVKICDFGLARDIYKDPDYVRKGDARLPLKWMAPETIFDR
  VYTIQSDVWSFGVLLWEIFSLGASPYPGVKIDEEFCRRLKEGTRMRAPDYTTPEMYQTML
  DCWHGEPSQRPTFSELVEHLGNLLQANAQQDGKDYIVLPISETLSMEEDSGLSLPTSPVS
  CMEEEEVCDPKFHYDNTAGISQYLQNSKRKSRPVSVKTFEDIPLEEPEVKVIPDDNQTDS
  GMVLASEELKTLEDRTKLSPSFGGMVPSKSRESVASEGSNQTSGYQSGYHSDDTDTTVYS
  SEEAELLKLIEIGVQTGSTAQILQPDSGTTLSSPPV

• Sequence length: 1356

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
VEGF signaling pathway
Focal adhesion
Proteoglycans in cancer
Fluid shear stress and atherosclerosis

Reactome:

Neurophilin interactions with VEGF and VEGFR
VEGF binds to VEGFR leading to receptor dimerization
Integrin cell surface interactions
VEGFA-VEGFR2 Pathway
VEGFR2 mediated cell proliferation
Signaling by membrane-tethered fusions of PDGFRA or PDGFRB

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
Capillary infantile hemangioma	Pathogenic	rs121917766	RCV000013110	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure	Likely pathogenic	rs587778428	RCV001270196	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Likely pathogenic	rs2545277848	RCV003985127	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of colon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOCRINE NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE AGE-RELATED MACULAR DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMANGIOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KDR-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tufted angioma of skin	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	12452857		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	20594997		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	29551453, 30111293		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16085543, 17638851, 30896872		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12094254, 19342098		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28218664		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	17298169		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18609713		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21724587, 22395975, 28060884, 28501090, 30718072, 31301962, 31733011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	21635552		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	11696172, 24850841, 27940520, 28559461, 30008907, 30706337		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	12464871		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	18566614		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	31291025		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	18227724		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	11687953		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	14659975		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	24445728		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16085543, 17638851		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	29952957		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	22129133		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	21853101		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	27365461, 30549248		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	25794107		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	12597922, 20019880, 20471686, 21282580, 23030506, 23559864, 23971975, 24365177, 24522370, 26028346, 29721978, 29769445, 30918816, 31743875		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	16077930		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	23630200		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30576228, 37596325, 39334869	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	33067558	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16410746, 17456229		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	17456229	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	40097075	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	29615459, 30051190, 30874973, 31819530		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	24123039, 25310988		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	36435742	Associate	★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	19120365		★☆☆☆☆ Found in Text Mining only
Angiomatous Meningioma	Angiomatous Meningioma	BEFREE	23651727		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	26988898		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	11824969		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27889393		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	30464514		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	31121870	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	24633336	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic valve disease	Pubtator	14760594	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	29298329		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	30947832		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	39313278	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14553837, 16322069, 23111153, 28189525, 28421362, 30584451, 31614249		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	29052569	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12091877, 29548992		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12823854, 15593185, 17393418, 20727150, 30767867, 31405022, 31876763	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31876763	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	10820274		★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	BEFREE	12592265, 30304094		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	17651148		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11058875, 11908876, 15949234, 26081139, 30615171		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26627848, 33099473	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	14553837, 16322069, 23111153, 28189525, 28421362, 30584451, 31614249		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	14990597, 22855739, 31432097	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16322069		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18221060, 22513453		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28865413	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19120365		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	29854829	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	12368197		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	15107801, 28143503, 31383249		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	16926628, 24123039		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	25502982	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22895549, 23749886, 25284004, 28710377, 30910851		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	28572048		★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	37418975	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	11960378		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15607960, 15949234, 20030644		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	18566614, 30934622		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10634512, 11306513, 12378509, 17550303, 20462514, 20686367, 21731759, 22170730, 22542663, 22641384, 23071298, 23404510, 23832257, 23951172, 25182240, 26080815, 26559373, 26909862, 27041643, 27879272, 28404866, 28533703, 28545358, 28680747, 28787092, 28894382, 29100335, 29221123, 29230610, 29403376, 29628979, 29872538, 30063723, 30207239, 30387014, 30560942, 30641320, 30818220, 31118800, 31541381, 31578580, 31636652, 31848190		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20135347		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	27881867		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	27881867	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10360672, 17912247, 18715621, 18922978, 19919679, 23418605, 23832257, 24138843, 24244672, 25182240, 25377085, 25971960, 26080815, 27629739, 29699375, 30063723, 31578580, 32636303, 33628590, 33673112, 34793664, 36360219, 37445737, 40343434	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	38189813	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	16230500, 25998098		★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	27143427		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20205278, 25895461, 27221921, 28851898, 31578580, 34358255	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	19582519	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12209972, 15616600, 25293577, 28143503		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	22314185, 23418605, 37185612	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	33928395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	17239264	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	35778435	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	18325046	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11115828, 22554292, 23516476, 23552472, 25123269, 25978354, 28350084, 28358369, 29402992, 29739298, 30109780, 33210432, 33223512, 33673041, 35955438, 36140703	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19177438	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36116407	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	32506171, 34453496	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	17239264	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	17695419, 18408656	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22895549, 23749886, 25284004, 28687357, 28710377, 30910851		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	27075652		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23275310, 24374073, 25773840, 26541778, 28693139, 30074936, 31476848		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26783205, 35144591, 37116140, 37320880	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11846206, 17465216, 17605814, 18041056, 22105611, 23192268, 23511629, 24786599, 25217984, 26021863, 26228213, 26528707, 26830973, 27144525, 27244898, 27468719, 27574806, 27837630, 28029648, 28465356, 28754676, 28974261, 29202733, 30401688, 30852945, 31477752, 34358255, 34986355, 35562342, 35677048, 36176934	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35834099	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20036889, 21175993, 22355056, 24244672, 25895461, 27145277, 32993587, 34195851	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	18619649, 29068435		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19240722, 19765808, 20195243, 21782227, 23692381, 25667501, 28179359, 28383032, 28498260, 29904943, 30810838, 7707437		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	30263099		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	24075030		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25805750		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	36435742	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17719840	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	12963640		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12963640, 29742506		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22507619, 29783932, 30892883, 31059085, 31339592		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36875456	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	26881237	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	26881237		★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	35484648	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	28338184		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	29052569	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	BEFREE	21692879, 31679265		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37175644	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	19520980, 26981634, 27462098, 29290003, 29886830, 30315331		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	33942489	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28072723, 28787092, 31236742, 31478352		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28072723, 28787092, 31478352		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16085543, 17638851		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	21853101		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	25794107		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16926628, 19291182, 19319137, 24755544, 28192597		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	20565817, 26014518, 28192597, 30400838	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	31221659, 31240525		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	32011476	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	12213878		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29783932, 30386246		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19965686, 25488616		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	16361360, 18300052, 30542404		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	16361360		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	30409304		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28684188		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	21098094, 25797700		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	12610101	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21098094, 22641384, 25967108, 27490690, 28854900		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25372416, 25967108	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	25532759		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11687953, 12754739, 18086000, 18619649, 19936766, 20143086, 20205278, 21159176, 21692070, 22182247, 23146028, 25471788, 25797700, 26619847, 27999191, 28405526, 28691930, 28900008, 28950290, 29588308, 29924031, 30423986, 30426548, 30476901, 30754629, 30862805, 31117039		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	20346928		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15235888, 17970067, 18790786, 20205278, 20222950, 21407216, 22182247, 23146028, 23651517, 23831629, 23861747, 23905676, 25272957, 25372416, 25817288, 25861837, 25967108, 26072521, 26107817, 26934556, 27999191, 28954991, 30423986, 30476901, 30754629, 31929755, 32705303, 36129915, 36172487, 36746394	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15638384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	20346928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29740162	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	29460088, 31805812		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19342098		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30400838		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11846206, 18041056, 20103629, 20566746, 20814228, 20978198, 21245940, 21882181, 25217984, 25589614, 26021863, 26528707, 27035563, 27248821, 27468719, 28756136, 29451277, 29460635, 29576624, 29667066, 29784193, 29851529, 29930727, 30084668, 30122942, 30199151, 30380460, 30447930, 30498230, 30499413, 30787172, 31075726, 31184937, 31471309, 31477752, 31767020		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	28874077, 30816491		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17707181, 22344734, 25738571, 27175642, 28122380, 30991288, 31432097		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17707181, 18192701, 22344734, 25738571, 27175642, 28122380, 29514830, 31432097		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	18929243	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	22855739, 31432097	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	16139132, 17707181, 18578002, 26726843, 27175642	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17707181, 22344734, 23111153, 25738571, 26726843, 27175642, 28122380, 31432097		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	17707181		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	30991288		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	29952957		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	29952957	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	12610101	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21658307		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21658307	Stimulate	★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	37596325	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	30995112		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	24526692, 26600200		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	26600200		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17393418, 29026147, 31257478		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	37596325	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	29749552		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23164459, 27527872		★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	37943631	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23056421, 24399295, 24903276, 29169872, 29721978, 30549248		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	27645229	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	28817576	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	16139132, 26956185, 30321232	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21764240, 22474430, 24572151, 26726843, 27175642, 35778435, 36875456	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23056421, 24399295, 24903276, 29169872, 29721978, 30549248		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	34267242	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26881237, 26956185, 33942489, 39273385	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29455365, 29774557		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23577111, 25128838, 26881237, 30873661		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	29473788		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	29582815	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32922187, 39273385	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	18630688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21868397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	28554530	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	12597922, 24623964, 24903276, 25221423, 29058688, 29259905, 29434227, 29468369, 29721978		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	24623964, 29058688, 29582815	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	24628546, 28817373		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	22129133, 30423319		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	24863063		★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	23992143	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyschondroplasias	Dyschondroplasias	CTD_human_DG	17954590		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	37350195	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	24508097		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	30886832		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	21177802	Associate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	31980491	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23273598, 28498245, 31322068		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16557278, 31322068, 32902840, 35241527	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	29357824		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17765237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	17765237, 27453397, 8755660	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	19189995, 21055747, 23635398, 27453397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enterocolitis Necrotizing	Enterocolitis	Pubtator	31383782	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	24190638		★☆☆☆☆ Found in Text Mining only
Epilepsy, Benign Psychomotor, Childhood	Epilepsy	CTD_human_DG	17533168		★☆☆☆☆ Found in Text Mining only
Epilepsy, Lateral Temporal	Epilepsy	CTD_human_DG	17533168		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	CTD_human_DG	17533168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30597392		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	30028964		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19240722, 19765808, 20195243, 21782227, 25667501, 28383032		★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	16843105		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	26895097, 30086460, 30245290		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	21472143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	26895097, 30086460, 30245290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32342599	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36921563	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	BEFREE	22849380		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	20019880, 26653034, 28400373, 29400470, 30918816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative retinopathy	Exudative retinopathy	BEFREE	23221067		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24520215		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	22658783, 30668625		★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	BEFREE	28394259		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	26626181		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	27062580		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	31087496		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	16570574		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	16260429, 16570574, 20501673		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	32636303	Stimulate	★☆☆☆☆ Found in Text Mining only
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	BEFREE	19478078		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	31788447		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	34185421	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	22842485		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	26315480		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	31320912		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	21330783	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	17036392	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19139124, 20123583, 22069175, 23551429, 29054076, 30204441		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	32074519	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	25085632, 8760299		★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	26988898	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	26988898	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	26988898		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15313899, 16021678, 17504929, 19637006, 21191630, 21382095, 22654102, 25353068, 25388940, 25501707, 25676691, 25682871, 26339347, 28404866, 28751462, 29599413, 29939339, 30150753, 30214632, 30236892, 30251659, 30718358, 31292802, 31610157, 31706255, 7525492		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17504929, 21191630, 22179774, 22973019, 25501707, 27172220, 27705944, 31991805, 32074192, 33099473, 33727583, 34875133, 34997451, 35173528, 37610648, 38036978	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15313899, 16021678, 19637006, 21191630, 21382095, 22654102, 25353068, 25388940, 25501707, 25676691, 25682871, 26339347, 27705944, 28404866, 28751462, 29599413, 29939339, 30150753, 30214632, 30236892, 30251659, 30718358, 31292802, 31610157, 31706255, 7525492		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10616207, 15160992, 16951188, 17881084, 18343027, 22274884, 22393126, 25682871, 25833462, 26093379, 26513555, 27693218, 28218903, 28352319, 28358414, 28812437, 30214632, 8586468		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17189383, 17504929, 20446891, 24922514, 25758142, 25833462, 27385209, 27613831, 31486713, 32074192, 33099473, 34815785, 35545820, 8774132	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17881084		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	17726104, 20375117		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	20019880, 21282580, 23971975, 24365177, 24522370, 26028346, 29769445		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	35326447	Associate	★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	21041381		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	32074519	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	32074519	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	17393165		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	15475932	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	BEFREE	17393165		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	34313777, 34328347	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	22519984, 27150003, 36435742	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36761158	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Failure Diastolic	Heart failure	Pubtator	34155850	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	8930647		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	11742043, 11807987, 14576053, 16456130, 24704994, 29033564, 29512710, 30132564		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	18931684, 23424651, 29664206	Associate	★☆☆☆☆ Found in Text Mining only
HEMANGIOMA, CAPILLARY INFANTILE	Hemangioma	UNIPROT_DG	11807987, 17344846, 18931684		★☆☆☆☆ Found in Text Mining only
HEMANGIOMA, CAPILLARY INFANTILE	Hemangioma	GENOMICS_ENGLAND_DG	18931684		★☆☆☆☆ Found in Text Mining only
HEMANGIOMA, CAPILLARY INFANTILE	Hemangioma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
HEMANGIOMA, CAPILLARY INFANTILE	Hemangioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	CTD_human_DG	17569031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	BEFREE	19723655, 25231439, 25252913, 25679062, 26422291, 27160228, 28056866, 29855279, 31243333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	Pubtator	20949568, 22314185, 28056866, 29855279, 31243333, 31510873, 32123305, 40474296, 8644848	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	12094254		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	12842710	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	22563920	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	21177802	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	31293107	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhoids	Hemorrhoid	Pubtator	40114371	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	23552472	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23775568	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	26631613		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26902100	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	27365461, 28339557, 30549248		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	27365461, 35977101	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28339557		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32074519	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	23429999, 31614249		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	30991288		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16943230, 24399295, 27645229, 30213479, 31143470		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	20674013, 26934556, 29351188	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	29582815	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	25854700		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	30991288		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	19734318	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20630084, 21882181, 31432097, 35075138	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20630084, 21882181, 24558090, 29161763, 29192185, 30204441, 30568289, 31432097, 31698959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS, CONGENITAL GENERALIZED	HYPERTRICHOSIS	BEFREE	11994537		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	25401697, 29300991		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	25401697	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	34313777	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17273772, 18286204, 27999191	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17406354, 20831794, 23178531, 23788753, 27488544, 28143503, 29351188, 32506171, 33067558, 33215223, 35417854	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19244479	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	16951193, 31786466		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29545367, 30586762		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	16936446	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	32426915	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	16361567, 19834490		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24338641, 28713958		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	23424651, 26957058, 29984822		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36901702	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	15585631		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	25797700		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	29627080		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	28338184, 31096819	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	31096819		★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	16820800	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	29052569	Stimulate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	26014518, 29935812		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	10211994		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	BEFREE	20030644		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	10488101, 10594750, 10873597, 18566614		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	11499563	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21640973, 25810250, 28992340		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	19197998	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	LHGDN	19110567		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	17465216, 32413049, 36176934	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27075652	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17036392	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	25340839, 34321013	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	22170299		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10953026, 17917967, 19342098, 23180012, 25686603, 25837664, 30705592, 31578782		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11877295, 11895790, 12917408, 21535879, 22251800, 23180012, 32782381	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17577783		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16085543, 19463770, 30959925, 9058706	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	16093434		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12094254, 12135675, 12702504, 17107349, 19342098, 19404919, 19463770, 21360050, 23239744, 24240200, 26189107, 29229602, 30148617, 30928630, 31217856, 9058706		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	18987662		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	30323681		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11115828, 11764072, 15809749, 15915456, 17244253, 17663519, 18566614, 18924243, 19177438, 19558547, 21131553, 21220499, 21270061, 21853101, 22554292, 23516476, 24059678, 24445728, 25123269, 25182707, 25333267, 25978354, 26166416, 27221035, 28042950, 28123523, 28134312, 28359326, 28529557, 29029413, 29285275, 29293430, 29402992, 29712569, 29739298, 29928336, 29935812, 30108693, 30109780, 30348638, 30506570, 30598262, 30674871, 30879152, 31378984, 31393257, 31619257, 31638892, 31662827, 31694662		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16786116		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	11115828, 23552472, 33673041	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	18656381		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28684188, 31060904		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	18814928, 23775568	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19177438, 24059678		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	33246355	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	16936446, 31980491	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21712447, 22593690, 26578684, 26681011, 30194450, 32348765, 36459496, 37400960	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	28693139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	14760936		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23111153		★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	BEFREE	11742043		★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	LHGDN	17584927		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	15368324	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	17018613		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	LHGDN	19023980		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25372416, 26014518, 28718364	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	19021062		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19821819, 27365461	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	16790692	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	19701853		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	LHGDN	12607599		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	30423319		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	22919317, 23559864, 26028346, 30696427, 34205419, 35326447	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration	Macular degeneration	Pubtator	35370941	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	14551356		★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	LHGDN	18421240		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18180758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	27527872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	30093598		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	31567367		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	16951188, 19637006, 29444818		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	17393165		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	11493335, 15672872		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	27705913		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10634512, 11106244, 11306513, 12378509, 15082792, 17550303, 20462514, 20686367, 21731759, 22170730, 22542663, 22641384, 23071298, 23404510, 23832257, 23951172, 25182240, 26080815, 26559373, 26909862, 27041643, 27879272, 28404866, 28533703, 28545358, 28680747, 28787092, 28894382, 28942113, 29100335, 29221123, 29230610, 29403376, 29587221, 29628979, 29872538, 30063723, 30207239, 30301881, 30387014, 30641320, 30818220, 31118800, 31541381, 31578580, 31636652, 31848190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20135347		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23273598, 31322068		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	26895097, 30086460, 30245290		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	25273173, 25410406, 25589614		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	18452647, 21853101, 22901163, 30686547		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23275310, 24374073, 25679062, 25773840, 26541778, 28693139, 30074936		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28145862		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23692381, 28179359, 28498260, 29228656, 29904943, 30810838, 7707437, 7835782		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	12385004		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12464871, 16678129, 20927318, 22207048, 23293110, 23422754, 23672538, 27889393, 28218664, 29632710		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12496487, 15107801, 15500293, 17018613, 19908237, 19923922, 21343372, 22705563, 22895549, 25261665, 26337470, 28257340, 29088840, 29174801, 30178447, 31578782, 31598404		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12439912, 15245777, 23605100, 28061477, 28770623, 29572120, 29761299, 29849960, 30126078, 30380970, 30819137, 30899983, 31611999, 31662821, 31749879, 31814734		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25465739, 25789503, 29615459		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22895549, 23749886, 25284004, 28710377, 30910851		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11908876, 14999228, 15949234, 19014781, 20462514, 20824203, 21098094, 21452000, 21515745, 21853101, 21858086, 21983283, 22207048, 22274884, 22395469, 22906006, 23548264, 23718298, 23749886, 23801169, 24738074, 25123269, 25310988, 25351743, 25411163, 25739076, 25797700, 26093379, 26345385, 26541778, 26631613, 26909862, 26916409, 27466356, 27609016, 27705944, 27806094, 27855595, 27863212, 27940419, 28029648, 28098802, 28165839, 28257340, 28291391, 28304102, 28358369, 28411406, 28441382, 28498441, 28505536, 28559461, 28599090, 28695268, 28851898, 28882321, 28925739, 29180757, 29189002, 29198078, 29203143, 29205467, 29397867, 29408327, 29421713, 29446853, 29549743, 29588308, 29609141, 29663896, 29677483, 29770798, 29787262, 29849960, 29978839, 30015973, 30108693, 30108994, 30126078, 30207239, 30214632, 30217739, 30248654, 30251659, 30301864, 30301881, 30343204, 30348638, 30410610, 30557852, 30741292, 30776229, 30826508, 30878834, 30952642, 31026719, 31131561, 31167931, 31182761, 31302791, 31308178, 31322068, 31340156, 31410025, 31440509, 31486270, 31492751, 31565186, 31578580, 31578782, 31786193, 31812261		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	20686603, 28991373		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28072723, 28787092, 31478352		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21098094, 24625025, 25532759, 25967108, 27490690, 28854900		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20135347		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15170218, 15845615, 17550303, 18284215, 23649001, 23951172, 26345385, 28937793, 31848190, 7545433		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15845615, 19023980		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20135347		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20135347		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	21325074, 21422803, 23780998, 28911729		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	17704359, 25794107, 29377550	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	19779861, 25794107		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11121133, 18288398, 19188183, 20004943, 21544800, 26631613, 30791119, 34179721, 35688842, 37160315, 38615585	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11438469, 12684754, 15166498, 17230507, 21159176, 21389833, 23685409, 26631613, 28377484, 30778016, 31668370, 7858416, 8554590		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15166498, 15610528, 15714119		★☆☆☆☆ Found in Text Mining only
Melnick-Needles Syndrome	Melnick-Needles Syndrome	CTD_human_DG	17954590		★☆☆☆☆ Found in Text Mining only
MEND SYNDROME	MEND Syndrome	BEFREE	24120854		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	25100872	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	30519894, 31213381		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27527872		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	11493335		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	19176370		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	22314185	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	20838437, 25514803, 27705913	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	33582655	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	10541969, 28719152		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	21257617		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29921586	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36708576	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	20668498, 23077562	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	23077562, 27462098		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	23077562, 27462098		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	15470196		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	LHGDN	15470196		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	30654760	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	34434074	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	25589620	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CTD_human_DG	17954590		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	14513053, 17927494, 24687381, 29568363		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15618473	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	16870555		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28865413		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28865413	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30711624		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24674452		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	12100142, 25472472	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	15183893		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15591120, 19875757, 22553146, 23180012, 25837664, 26476544		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25128838, 28669772, 29158084, 29450744, 30371196, 31432097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	31432097	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis Ossificans	Myositis	Pubtator	26626181	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28881773, 30608382		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	29068435, 31125264, 31383782		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10490819, 10541167, 11106244, 11274374, 11438469, 11555605, 11679938, 11696172, 11801954, 11846206, 11857038, 12213878, 12388254, 12439912, 12464871, 12496487, 12754739, 12776187, 15107801, 15313899, 15520458, 15592523, 15809749, 15845615, 15915456, 15949234, 16021678, 16361567, 16843105, 16951188, 16951193, 16972762, 17230507, 17393165, 17409396, 17663519, 17938160, 18059178, 18199548, 18221060, 18227724, 18447716, 18566614, 18924243, 19014781, 19050699, 19177438, 19240722, 19242112, 19272767, 19291182, 19412427, 19491268, 19509267, 19520294, 19665480, 19765808, 19773544, 19779861, 19825192, 19837976, 19942948, 20030644, 20032607, 20195243, 20205278, 20219270, 20484434, 20927318, 20978198, 20978347, 21041381, 21046127, 21098094, 21102433, 21159176, 21245940, 21270061, 21360050, 21431419, 21482472, 21515914, 21604194, 21712447, 21724587, 21765912, 21791631, 21853126, 22170730, 22198428, 22291136, 22370181, 22393126, 22654102, 23071298, 23187125, 23239438, 23254951, 23267058, 23404510, 23536763, 23551429, 23712501, 23840389, 23951172, 24030704, 24170768, 24190638, 24193868, 24300896, 24510746, 24525706, 24564183, 24577128, 24625025, 24687381, 24845798, 24856585, 24892449, 25125500, 25182240, 25217984, 25223783, 25333267, 25484066, 25532759, 25641339, 25667501, 25739076, 25797700, 25806599, 25881079, 25948774, 25967108, 26085010, 26139244, 26179332, 26285778, 26404753, 26474454, 26528707, 26541778, 26631613, 26909862, 26950548, 27248821, 27376737, 27466356, 27515281, 27562635, 27572273, 27669225, 27688180, 27791295, 27806094, 27889393, 27922668, 27940520, 27982020, 28056866, 28060884, 28103447, 28123523, 28134312, 28192065, 28192155, 28193911, 28194552, 28315202, 28358188, 28359326, 28394259, 28400300, 28403086, 28405526, 28420432, 28422745, 28425492, 28498441, 28533703, 28552267, 28559461, 28679123, 28691930, 28710377, 28718364, 28751462, 28765707, 28779210, 28812437, 28822888, 28851898, 28881585, 28881773, 28900008, 28903354, 28915721, 28916756, 28919780, 28926106, 29061812, 29080353, 29228087, 29228656, 29258180, 29293430, 29362222, 29444818, 29446853, 29497045, 29588308, 29616369, 29660229, 29706409, 29886786, 29925934, 29926253, 29935812, 29939324, 29939339, 29948972, 29952957, 29957061, 29972342, 29983002, 30051190, 30062609, 30104711, 30132564, 30178447, 30259141, 30283071, 30314524, 30387014, 30423319, 30447930, 30519894, 30590043, 30694269, 30697890, 30700502, 30724452, 30755403, 30810838, 30819137, 30862805, 30874973, 30953637, 31025286, 31142504, 31190866, 31240525, 31288005, 31322068, 31343989, 31440509, 31476848, 31513411, 31562188, 31578782, 31598404, 31825830, 31848190, 31848332, 7535799, 7707437, 8667614, 8930647, 9777955		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	28992340		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	30985306		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	22038228	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	14551356		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	22038228	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	35778435	Associate	★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	31848332		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11815985, 12483647, 14605672, 22804730, 27922668		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11815985, 18178312, 19141404, 21472456	Associate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	19779861		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	31848332		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	20686603	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	31167931		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	18630688		★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	BEFREE	16570574		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Infantile capillary hemangioma	Capillary Hemangioma	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17599955, 19324448, 19435508, 19662677, 21224376, 21712447, 21724587, 22395975, 23117577, 24374073, 24577128, 24625025, 25881079, 25975224, 26179332, 26459253, 26542176, 26701724, 27392029, 27940520, 28088809, 28131635, 28352985, 28367065, 28559461, 29191585, 29390380, 29427623, 29516980, 29549743, 29770798, 30016964, 30774379, 30854085, 31169681, 31586713, 31807016, 31819478		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25630869	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29482944		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	31257478	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	CTD_human_DG	17954590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	28656259, 28837148, 29225166, 30719715		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28837148	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	30919059		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	23692381, 7707437		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39754905	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	22510937		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	21082502, 24851136, 24886133		★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian hyperstimulation syndrome	Pubtator	22587628, 24851136, 24886133	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16835828, 17470361		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16972762, 28179359, 28498260, 29904943, 30810838, 8667614		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15368324, 20334653, 21574104, 28291391, 31200683, 33235818, 33713666, 37116140	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	25794856, 31598404		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11274374, 12464871, 16678129, 20927318, 22207048, 23293110, 23672538, 27889393, 28218664, 29632710		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30062609		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	12385004		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	12464871		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15476280, 20367641, 21263190, 23293110, 24633336, 28218664, 28338114, 33062039, 34274912	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	28218664	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	21074210, 23213094, 27989785		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	16260429, 16570574, 21653734, 22711876, 26680454		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	35800185	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	31291025		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	30373905	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28840516, 29504058		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	26804176		★☆☆☆☆ Found in Text Mining only
Pericardial Effusion	Pericardial effusion	Pubtator	28056866	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	25630869	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31817862		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	20382861	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	27974423		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31167931		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31167931		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	15368324, 22563920	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	23585849	Inhibit	★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	31217199		★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	31462148		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	12368197, 24675699	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	14659975		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	26648523, 30579324		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	20030644, 9255258		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	12213878, 16226108		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	24222652, 27438154, 37803932	Associate	★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	25874616		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	LHGDN	18922344		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	29093528		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	30896872		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	22510937		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	26988898		★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	BEFREE	31653009		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	25221423		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	30289073		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12496487, 15500293, 17018613, 19908237, 19923922, 21343372, 22895549, 25261665, 26337470, 28143503, 28257340, 29088840, 29174801, 30178447, 31578782, 31598404		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic disease	Pubtator	28143503	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	11330643	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	28143503		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	12496487, 12885781		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15500293, 19908237, 25261665, 26337470	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	26274923	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	16682255		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	14962110, 23383198, 25227750		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	15885787, 28489720		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29545367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	31980491	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	15681497, 27163696	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	11254533, 16361360, 25017817, 28291826		★☆☆☆☆ Found in Text Mining only
Pyogenic granuloma	Pyogenic granuloma	BEFREE	31776151		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	23801169, 25532759, 31427042		★☆☆☆☆ Found in Text Mining only
Recurrent depressive disorder	Mental Depression	BEFREE	23164459		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	25273173, 25410406, 25589614		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11846206, 18041056, 20814228, 20978198, 21245940, 25217984, 25589614, 26021863, 27035563, 27248821, 29051029, 29451277, 29460635, 29576624, 29667066, 29784193, 29851529, 29930727, 30084668, 30122942, 30199151, 30447930, 30498230, 30499413, 30787172, 31184937, 31471309		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30386246		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31406128		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	25221423, 28512254, 28740073, 29730824, 29943214, 30944099		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	29058688	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10211121		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	20860824, 22457763, 26619025	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	16565398, 20697002, 23094709		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11824969, 16277668, 17393418, 20727150, 26922678, 29385909, 30503342, 30767867, 31017736, 31405022		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	19741061		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	16101185, 26646755, 27771610, 34939467	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	16951193		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19013896, 22304008, 29527631, 29849960, 31157270, 31305297		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	27077911	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	10594750, 15800227, 22314185, 8644848, 9621077	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	10623771	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	22314185	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21647420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	27484635		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	28117656	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	CTD_human_DG	17954590		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CTD_human_DG	17954590		★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	29236566	Associate	★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	9058706		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	23861747, 28714365, 29228087, 29576426, 29924031, 30073902, 31676953		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	29928359		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28151770		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	24772480	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	27713170	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	16361567		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37390276	Associate	★☆☆☆☆ Found in Text Mining only
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	BEFREE	27143427		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	CTD_human_DG	17954590		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG	17954590		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10616207, 10623663, 11801954, 19834490, 19942948, 20032607, 22395975, 28546756, 28915721		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23392734, 28860804, 30464518		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	15475932, 20032607, 20498643, 22203933, 25612142, 26683928, 27221921, 27681865, 28718364, 32113465, 35220896, 36708576, 37341071	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	26683928		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18566614, 28718364, 31545422		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	16951193, 31786466		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12439912, 15245777, 23605100, 28061477, 28770623, 29572120, 29761299, 29849960, 30126078, 30380970, 30819137, 30899983, 31611999, 31662821, 31749879, 31814734		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12174363, 12439912, 17659711, 22808003, 23364970, 23422754, 27623234, 30087428, 30380970, 32070411, 32964029, 35008821, 35417854, 37591783	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16761623		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28832082	Stimulate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	23424651, 26957058, 29984822		★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32506171	Associate	★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	17204940		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	20668498	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	15178641		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	15693894		★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	33894400	Associate	★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	27930691		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	20551952		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	8760299		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	16456230, 23897578, 30232381		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	30232381, 34328347	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Thrombocytopenia	Pubtator	23620752	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	25123269	Associate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	30634936		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	27791295		★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	25971967	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	20368568	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	16570574, 30678450, 32047817	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25465739, 25789503, 28013235, 29615459		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	29615459	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	17696908	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	16570574		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	16260429, 16570574, 21422803, 25789503		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	29615459, 30272326	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34077013, 35313079	Stimulate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	10914704		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	21082502		★☆☆☆☆ Found in Text Mining only
Trichotillomania	Trichotillomania	BEFREE	29909529		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	20135347, 22170730, 25025175, 30498230, 30800223, 31079851, 31388935, 31636652		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25025175, 31079851	Stimulate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	21767323	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21115119, 28296822		★☆☆☆☆ Found in Text Mining only
Uncinate Epilepsy	Epilepsy	CTD_human_DG	17533168		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18180758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uremia	Uremia	CTD_human_DG	19092814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	16780590, 21529900, 23251617, 30816487, 31665050, 36982218	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	25293577, 31301962		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	21175993, 21424032, 28072723, 34011535, 34544526	Associate	★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	CTD_human_DG	17954590		★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	14760594	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	14760594, 27932624		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	14990597, 24316428	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	20857126, 29058688		★☆☆☆☆ Found in Text Mining only
Vascular Malformation Primary Intraosseous	Vascular malformation	Pubtator	32113465	Associate	★☆☆☆☆ Found in Text Mining only
Vohwinkel Syndrome Variant Form	Vohwinkel syndrome	Pubtator	20236940	Associate	★☆☆☆☆ Found in Text Mining only
Vohwinkel Syndrome, Variant Form	Vohwinkel Syndrome	BEFREE	20236940		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	30413344		★☆☆☆☆ Found in Text Mining only