FLT4 (fms related receptor tyrosine kinase 4)

Gene

• Entrez ID: 2324
• Gene name: Fms related receptor tyrosine kinase 4
• Gene symbol: FLT4
• Synonyms (NCBI Gene): CHTD7, FLT-4, FLT41, LMPH1A, LMPHM1, PCL, VEGFR-3, VEGFR3
• Chromosome: 5
• Chromosome location: 5q35.3
• Summary: This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34255532	G>A,C	Pathogenic, uncertain-significance, benign	Non coding transcript variant, coding sequence variant, missense variant
rs121909650	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909651	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909652	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909653	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909654	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909655	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909656	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909657	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs267606818	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587776833	AGA>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs755445139	G>-,GG	Pathogenic	Frameshift variant, non coding transcript variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1451816005	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554109707	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554115894	A>G	Drug-response	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs1581616817	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1581655293	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043539	hsa-miR-331-3p	CLASH	23622248
MIRT053184	hsa-miR-1236-3p	Luciferase reporter assay, pSILAC, qRT-PCR, Western blot	22223733
MIRT053184	hsa-miR-1236-3p	Luciferase reporter assay, pSILAC, qRT-PCR, Western blot	22223733
MIRT999075	hsa-miR-1184	CLIP-seq
MIRT999076	hsa-miR-1205	CLIP-seq
MIRT999077	hsa-miR-1266	CLIP-seq
MIRT999078	hsa-miR-1293	CLIP-seq
MIRT999079	hsa-miR-2467-3p	CLIP-seq
MIRT999080	hsa-miR-3132	CLIP-seq
MIRT999081	hsa-miR-3150b-3p	CLIP-seq
MIRT999082	hsa-miR-3158-5p	CLIP-seq
MIRT999083	hsa-miR-3174	CLIP-seq
MIRT999084	hsa-miR-3184	CLIP-seq
MIRT999085	hsa-miR-3664-3p	CLIP-seq
MIRT999086	hsa-miR-3678-3p	CLIP-seq
MIRT999087	hsa-miR-3925-3p	CLIP-seq
MIRT999088	hsa-miR-423-5p	CLIP-seq
MIRT999089	hsa-miR-4257	CLIP-seq
MIRT999090	hsa-miR-4483	CLIP-seq
MIRT999091	hsa-miR-4512	CLIP-seq
MIRT999092	hsa-miR-4518	CLIP-seq
MIRT999093	hsa-miR-4646-5p	CLIP-seq
MIRT999094	hsa-miR-4689	CLIP-seq
MIRT999095	hsa-miR-4716-3p	CLIP-seq
MIRT999096	hsa-miR-4723-5p	CLIP-seq
MIRT999097	hsa-miR-4728-5p	CLIP-seq
MIRT999098	hsa-miR-4731-5p	CLIP-seq
MIRT999099	hsa-miR-4747-5p	CLIP-seq
MIRT999100	hsa-miR-4755-3p	CLIP-seq
MIRT999101	hsa-miR-4783-5p	CLIP-seq
MIRT999102	hsa-miR-4784	CLIP-seq
MIRT999103	hsa-miR-486-3p	CLIP-seq
MIRT999104	hsa-miR-512-3p	CLIP-seq
MIRT999105	hsa-miR-515-5p	CLIP-seq
MIRT999106	hsa-miR-520a-5p	CLIP-seq
MIRT999107	hsa-miR-525-5p	CLIP-seq
MIRT999108	hsa-miR-665	CLIP-seq
MIRT999109	hsa-miR-766	CLIP-seq
MIRT999110	hsa-miR-921	CLIP-seq
MIRT1996052	hsa-miR-1908	CLIP-seq
MIRT1996053	hsa-miR-3180	CLIP-seq
MIRT1996054	hsa-miR-3180-3p	CLIP-seq
MIRT1996055	hsa-miR-3196	CLIP-seq
MIRT1996056	hsa-miR-4787-5p	CLIP-seq
MIRT1996057	hsa-miR-663	CLIP-seq
MIRT1996058	hsa-miR-759	CLIP-seq
MIRT999077	hsa-miR-1266	CLIP-seq
MIRT2388022	hsa-miR-1275	CLIP-seq
MIRT999084	hsa-miR-3184	CLIP-seq
MIRT999085	hsa-miR-3664-3p	CLIP-seq
MIRT999088	hsa-miR-423-5p	CLIP-seq
MIRT2388023	hsa-miR-4254	CLIP-seq
MIRT2388024	hsa-miR-4260	CLIP-seq
MIRT999092	hsa-miR-4518	CLIP-seq
MIRT2388025	hsa-miR-4665-5p	CLIP-seq
MIRT999095	hsa-miR-4716-3p	CLIP-seq
MIRT999096	hsa-miR-4723-5p	CLIP-seq
MIRT999097	hsa-miR-4728-5p	CLIP-seq
MIRT999103	hsa-miR-486-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	19901262
RELA	Activation	19901262

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	19779139
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IMP	11532940
GO:0001944	Process	Vasculature development	IEA
GO:0001944	Process	Vasculature development	ISS
GO:0001945	Process	Lymph vessel development	IEA
GO:0001945	Process	Lymph vessel development	ISS
GO:0001946	Process	Lymphangiogenesis	IEA
GO:0001946	Process	Lymphangiogenesis	IMP	19779139
GO:0001946	Process	Lymphangiogenesis	ISS
GO:0002040	Process	Sprouting angiogenesis	IBA
GO:0002040	Process	Sprouting angiogenesis	IEA
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0003016	Process	Respiratory system process	IEA
GO:0004672	Function	Protein kinase activity	IEA
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	IMP	7898938
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	8386825
GO:0005021	Function	Vascular endothelial growth factor receptor activity	IBA
GO:0005021	Function	Vascular endothelial growth factor receptor activity	IDA	9012504, 23878260
GO:0005021	Function	Vascular endothelial growth factor receptor activity	IEA
GO:0005021	Function	Vascular endothelial growth factor receptor activity	IMP	11532940, 19779139
GO:0005021	Function	Vascular endothelial growth factor receptor activity	TAS	10835628
GO:0005515	Function	Protein binding	IPI	16530705, 20224550, 21130043, 22939624, 23878260, 27991863, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	7898938
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8386825
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	10835628
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	7675451, 19779139
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IMP	19779139
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	11532940
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	7898938
GO:0019838	Function	Growth factor binding	IBA
GO:0019838	Function	Growth factor binding	IPI	9435229
GO:0019903	Function	Protein phosphatase binding	IPI	20826270
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IDA	9435229
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IMP	19779139
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IDA	23878260
GO:0042803	Function	Protein homodimerization activity	IDA	23878260
GO:0043066	Process	Negative regulation of apoptotic process	IMP	11532940
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	19779139
GO:0046330	Process	Positive regulation of JNK cascade	IMP	16076871
GO:0046777	Process	Protein autophosphorylation	IDA	7675451, 9435229, 23878260
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IBA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IDA	9012504
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IMP	11532940, 19779139
GO:0048286	Process	Lung alveolus development	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0048514	Process	Blood vessel morphogenesis	ISS
GO:0060312	Process	Regulation of blood vessel remodeling	IEA
GO:0060312	Process	Regulation of blood vessel remodeling	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	11532940

Other IDs

• MIM: 136352
• HGNC: 3767
• e!Ensembl: ENSG00000037280

Protein

• UniProt ID: P35916
• Protein name: Vascular endothelial growth factor receptor 3 (VEGFR-3) (EC 2.7.10.1) (Fms-like tyrosine kinase 4) (FLT-4) (Tyrosine-protein kinase receptor FLT4)
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. P
• PDB: 4BSJ, 4BSK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13927	Ig_3	231 → 314		Domain
  PF13927	Ig_3	559 → 657		Domain
  PF07679	I-set	678 → 765	Immunoglobulin I-set domain	Domain
  PF17988	VEGFR-2_TMD	770 → 804	VEGFR-2 Transmembrane domain	Domain
  PF07714	PK_Tyr_Ser-Thr	845 → 1169	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in endothelial cells (at protein level). Widely expressed. Detected in fetal spleen, lung and brain. Detected in adult liver, muscle, thymus, placenta, lung, testis, ovary, prostate, heart, and kidney. {ECO:0000269|PubMed:1327
• Sequence:

  MQRGAALCLRLWLCLGLLDGLVSGYSMTPPTLNITEESHVIDTGDSLSISCRGQHPLEWA
  WPGAQEAPATGDKDSEDTGVVRDCEGTDARPYCKVLLLHEVHANDTGSYVCYYKYIKARI
  EGTTAASSYVFVRDFEQPFINKPDTLLVNRKDAMWVPCLVSIPGLNVTLRSQSSVLWPDG
  QEVVWDDRRGMLVSTPLLHDALYLQCETTWGDQDFLSNPFLVHITGNELYDIQLLPRKSL
  ELLVGEKLVLNCTVWAEFNSGVTFDWDYPGKQAERGKWVPERRSQQTHTELSSILTIHNV
  SQHDLGSYVCKANNGIQRFRESTEVIVHENPFISVEWLKGPILEATAGDELVKLPVKLAA
  YPPPEFQWYKDGKALSGRHSPHALVLKEVTEASTGTYTLALWNSAAGLRRNISLELVVNV
  PPQIHEKEASSPSIYSRHSRQALTCTAYGVPLPLSIQWHWRPWTPCKMFAQRSLRRRQQQ
  DLMPQCRDWRAVTTQDAVNPIESLDTWTEFVEGKNKTVSKLVIQNANVSAMYKCVVSNKV
  GQDERLIYFYVTTIPDGFTIESKPSEELLEGQPVLLSCQADSYKYEHLRWYRLNLSTLHD
  AHGNPLLLDCKNVHLFATPLAASLEEVAPGARHATLSLSIPRVAPEHEGHYVCEVQDRRS
  HDKHCHKKYLSVQALEAPRLTQNLTDLLVNVSDSLEMQCLVAGAHAPSIVWYKDERLLEE
  KSGVDLADSNQKLSIQRVREEDAGRYLCSVCNAKGCVNSSASVAVEGSEDKGSMEIVILV
  GTGVIAVFFWVLLLLIFCNMRRPAHADIKTGYLSIIMDPGEVPLEEQCEYLSYDASQWEF
  PRERLHLGRVLGYGAFGKVVEASAFGIHKGSSCDTVAVKMLKEGATASEHRALMSELKIL
  IHIGNHLNVVNLLGACTKPQGPLMVIVEFCKYGNLSNFLRAKRDAFSPCAEKSPEQRGRF
  RAMVELARLDRRRPGSSDRVLFARFSKTEGGARRASPDQEAEDLWLSPLTMEDLVCYSFQ
  VARGMEFLASRKCIHRDLAARNILLSESDVVKICDFGLARDIYKDPDYVRKGSARLPLKW
  MAPESIFDKVYTTQSDVWSFGVLLWEIFSLGASPYPGVQINEEFCQRLRDGTRMRAPELA
  TPAIRRIMLNCWSGDPKARPAFSELVEILGDLLQGRGLQEEEEVCMAPRSSQSSEEGSFS
  QVSTMALHIAQADAEDSPPSLQRHSLAARYYNWVSFPGCLARGAETRGSSRMKTFEEFPM
  TPTTYKGSVDNQTDSGMVLASEEFEQIESRHRQESGFSCKGPGQNVAVTRAHPDSQGRRR
  RPERGARGGQVFYNSEYGELSEPSEEDHCSPSARVTFFTDNSY

• Sequence length: 1363

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Pathways in cancer
Breast cancer

Reactome:

VEGF binds to VEGFR leading to receptor dimerization

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	Likely pathogenic	rs1762335528	RCV004796370	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart defects, multiple types, 7	Pathogenic; Likely pathogenic	rs2127839096, rs146006663, rs1415338572, rs2480880177, rs2480983963, rs1764039505, rs1422886839, rs755445139, rs1581616817, rs1581655293, rs1762335528	RCV001533291 RCV001706754 RCV002470578 RCV003986017 RCV004515783 RCV004555197 RCV001003426 RCV001003427 RCV001003429 RCV001003430 RCV004796370	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FLT4-related disorder	Pathogenic; Likely pathogenic	rs2480883778, rs2480933426, rs2480922403, rs2127787560, rs2480869226, rs121909650, rs121909655, rs1451816005, rs1762335528	RCV003402389 RCV003421183 RCV003397862 RCV003392950 RCV003410866 RCV004751213 RCV003398529 RCV004751756 RCV003393877	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary lymphedema type I	Likely pathogenic; Pathogenic	rs1761973773, rs121909650, rs2480842959, rs2480886920, rs2480884226, rs2480865554, rs267606818, rs121909651, rs121909652, rs121909653, rs121909654, rs121909655, rs121909656, rs587776833, rs1451816005, rs1762335528	RCV001331922 RCV003340475 RCV003154635 RCV003445406 RCV003445409 RCV003445410 RCV000017647 RCV000017648 RCV000017649 RCV000017650 RCV000017651 RCV000017653 RCV000017654 RCV000017655 RCV000017656 RCV000853321 RCV001199191	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs1451816005	RCV005359605	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Carcinoma of colon	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR-CELL METASTATIC RENAL CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC MALFORMATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC MALFORMATION 1	—	ClinGen, ClinVar, HPO ClinGen, ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Regorafenib response	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	1327515		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31769777		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10728593, 16344322, 21635552, 23030255, 26525902		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12168824, 16116610		★☆☆☆☆ 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	17970036, 29048623		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12754739		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	22210714		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	11687953		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31769777		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	12597922		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31332262	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36680854, 36905877	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	23490417		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31333122		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	17516770, 18669994, 20850185, 24796343, 26721900, 27255235, 27715314, 28092055, 28287840, 28594208, 28594218, 28741393, 29120846, 29172600, 29294686, 29366397, 29407724, 29469581, 29545126, 29633199, 29946511, 30216843, 30355022, 30650005, 30887147, 31104203, 31274196, 31488769, 31649591, 31661520		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	17516770, 29204908, 30774783		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	17516770, 29204908, 30774783		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14553837		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	14553837		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	14990597	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	31190818		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	28991257	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30579126		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	34681005	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17926187		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	34918882	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	15107801		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	25446376	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	31757960		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18292935, 19556880, 22542663, 23682680, 24379135, 29578215, 29976154, 30063723, 30618899		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10329591, 15901129, 25971960, 28791841, 30063723, 30947698, 34793664, 37779428	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22330345, 29137038	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19556880		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	21423152	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23737988, 28400300	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	14648657		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	15841074	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18292935, 21804602, 25003617, 26148594, 28506066, 29089761, 30178279		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33213062	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23462807, 26821530, 27837630, 28754676, 30385613, 33668731	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12518370, 27666723	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20865022, 23692381, 24862760		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	14648657, 31478352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	31478352		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31769777		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19291182, 28566645		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	20565817, 21492330, 30123080	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	16959214		★☆☆☆☆ Found in Text Mining only
Chylothorax	Chylothorax	Pubtator	16419129	Associate	★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	23462807		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	CTD_human_DG	25239121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	31332262	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27313177		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12851706, 21804602		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11687953, 12660643, 12754739, 18292935, 19956902, 25543087, 25605009, 25754161, 26543080, 27639612, 30305215, 31239267, 31297348		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23580180, 26917449, 27639612, 29162097, 36520636	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	25754161		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	22193390		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	28487195		★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	11516238		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	36789878	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25239121, 28754676		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29557990	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	29557990	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11824968, 30144298, 31326243		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28581335, 28699144, 28843870, 29343229, 29805783, 30711869, 30774783, 30988893, 31033745, 31158781		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	21364190		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	23490417		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30102256		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30102256		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30833548		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	12597922		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12960217, 15689446, 19002718, 23074044, 24167460, 9817924		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	23490417		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23614535, 24845798, 31333122		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29348629	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	26798047, 31297012		★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	24384851		★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29069758		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	26739507		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	22804730		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	23030255		★☆☆☆☆ Found in Text Mining only
Gastrointestinal carcinoma	Gastrointestinal carcinoma	BEFREE	19755510		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	19755510	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	21179485	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	21972089		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28782783		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16523449, 28901480		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22179774	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28901480		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28240249, 28977853		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30278527	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28991257, 36205932, 36496429	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29204908		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32037394	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	34328347	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	11807987, 22961441		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
HEMANGIOMA, CAPILLARY INFANTILE	Hemangioma	GENOMICS_ENGLAND_DG	11807987		★☆☆☆☆ Found in Text Mining only
HEMANGIOMA, CAPILLARY INFANTILE	Hemangioma	UNIPROT_DG	11807987		★☆☆☆☆ Found in Text Mining only
HEMANGIOMA, CAPILLARY INFANTILE	Hemangioma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	20459536, 20949568	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	20949568, 22532251, 24384851, 26735859, 27160228		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	19701853		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	16965327, 19394045		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG	16965327		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31112795		★☆☆☆☆ Found in Text Mining only
Hypoplasia of lymphatic vessels	Hypoplasia of lymphatic vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23788753	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28356442, 30586762		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29310365		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	21364190		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30123080		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	10068212, 10488101, 10594750, 15536152, 19260835		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	7504515		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	25340839	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11877295, 22251800	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17917967, 22251800, 7687867		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11877295, 36763100	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	9264375		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17539024, 23737988, 26237499, 29273278, 30033270		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17539024		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	17539024		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16755294, 17686546		★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	BEFREE	11742043, 31013538		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	12610509, 15107801, 16755294, 17970036, 18756043, 19589137, 19628565, 21912471, 22366442, 22502683, 23539643, 23737988, 24520214, 25446376, 26197772, 27666723	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	14760756, 24040410, 27639612, 29137038, 30123080	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	15880525, 22502683, 26543080, 27527412, 28629427, 29409810, 30901976		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	10856194, 12740761, 16419129, 17458866, 18564920, 22351697, 22529953, 29896974, 30483911, 30582441, 34103024, 34681005	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lymphedema	Lymphedema	Pubtator	30431105	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lymphoma	Lymphoma	BEFREE	22251800, 28096093, 29310365		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	19701853		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	19701853		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	19701853		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	22946664		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11106244, 19556880, 22542663, 23682680, 24379135, 29578215, 30063723		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23614535, 31333122		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17539024, 31352936		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25003617, 26148594, 28506066, 29089761, 30178279		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20865022, 23692381, 24862760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15107801, 15880525, 17062674, 19436293, 24858271, 27487149		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	27901498		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16344322, 21805024, 25521742, 28939099		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thymus	Malignant Neoplasm Of Thymus	BEFREE	26254278		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16525637, 17174733, 19779139, 19956902, 21515745, 23344023, 25003617, 27901498, 28506066, 28601755, 28658220, 29578215, 30123080, 30663422, 30890226, 30901976, 31069961, 31239267, 31263371, 31843751		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31478352		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12851706		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27270209, 29976154, 31263371		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	21325074, 23780998, 24754736		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11891198	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20004943, 32618346	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25486195, 28658220, 29627747		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32618346	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28581335, 28699144, 28843870, 29805783, 30711869, 30774783, 30988893, 31033745, 31158781		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28594207, 28948699		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	12594815		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	18008346	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	10835628, 10856194, 11175851, 11427983, 11592985, 12543715, 12543720, 12740761, 15102829, 15689446, 15693535, 15904433, 16419129, 16924388, 16965327, 17458866, 17945164, 19002718, 19289394, 20555004, 22768468, 23074044, 23410910, 24744435, 25109169, 26091405, 26714373, 29447908, 29800868, 29896974, 30071673, 30941160		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	UNIPROT_DG	10835628, 10856194, 12881528, 15102829, 16924388, 16965327, 17458866, 19289394, 26091405, 9817924		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	GENOMICS_ENGLAND_DG	16924388, 16965327, 23074044		★☆☆☆☆ Found in Text Mining only
Milroy disease	Milroy Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	BEFREE	28782783		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28948699, 29193294		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	30875671		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12960217, 15689446, 19002718, 23074044, 24167460, 9817924		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11524732, 28038447, 7681918		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	16959214		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30420641		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22366442	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	BEFREE	10880369		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10068212, 11106244, 11151407, 11291931, 11306510, 11718224, 12048269, 12754739, 12963694, 15107801, 15536152, 15880525, 16061674, 16523449, 16525637, 17539024, 17549374, 17948123, 17970036, 19253004, 19291182, 19556880, 19779139, 19956902, 20197464, 20225197, 20308006, 21361311, 21972089, 22548308, 22562155, 22946664, 23065847, 23239404, 23995616, 24014887, 24582554, 24754736, 24845798, 24858271, 24862760, 25003617, 25009010, 25486195, 25543087, 25641339, 26148594, 27270209, 27487149, 27745792, 28056899, 28098871, 28240249, 28400300, 28506066, 28601755, 28607365, 28629427, 28718364, 28915719, 28939099, 29042665, 29048623, 29095068, 29162097, 29375705, 29409810, 30063723, 30081302, 30123080, 30178279, 30278527, 30311803, 31007611, 31024552, 31239267, 31297348, 31333122, 31691601, 31769777		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22804730, 23065847		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30651923		★☆☆☆☆ 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	16755294, 29427623		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34890032	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	28782783		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	38050610	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	18440723		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	18440723		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	21751203	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	23692381		★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	30483911		★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian hyperstimulation syndrome	Pubtator	30483911	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20865022, 24862760		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12610509, 15368324, 21574104, 26197772, 31200683	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	16077915		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20367641, 33213062	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	38193541	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	30471477		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	29310365		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	12610509, 29896974	Associate	★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	21740802		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	26100613, 26709579, 26751724, 27043048, 27605231, 27785533, 27893032, 27983759, 28129752, 28262136, 28314138, 28348720, 28437216, 28475593, 28494804, 28581276, 28589140, 28594207, 28624761, 28626208, 28645017, 28685258, 28765135, 28905129, 28948699, 28961597, 29069251, 29081489, 29085091, 29183285, 29193294, 29250928, 29280387, 29330769, 29343229, 29357779, 29395872, 29435200, 29441152, 29475105, 29510795, 29517690, 29554536, 29627700, 29630411, 29677606, 29685117, 29736219, 29757262, 29787532, 29896918, 30091801, 30102064, 30113182, 30269201, 30288087, 30326460, 30354698, 30375881, 30386291, 30470649, 30489096, 30529244, 30543451, 30551022, 30555358, 30579176, 30597679, 30618899, 30641341, 30660830, 30693070, 30774783, 30849715, 30878218, 30897529, 30934818, 30988893, 31033745, 31146712, 31158781, 31291223, 31401290, 31404354, 31508823, 31543835, 31646748, 31655035, 31679445, 31708812, 31821960		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	18829111		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	29310365		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15880525, 17062674, 19436293, 24858271, 27487149		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	15701844		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	11330643	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15107801, 16267000		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15297417, 15880525		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16491267, 19436293, 24858271	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	18094729		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29957828		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28356442		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	11516238, 28113083		★☆☆☆☆ Found in Text Mining only
Pyogenic granuloma	Pyogenic granuloma	BEFREE	22955520		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27554585		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30816473		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31129274		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11824968, 29679159		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	31670896		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22304008		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	26739507	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	10594750, 19260835, 37740179	Associate	★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	31612234	Associate	★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	9264375		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	26828975	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	9708800		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	31071606		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22502683		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29218108		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22502683, 24040410, 25612142, 27666723, 28718364, 38050610	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lip	Carcinoma of Lip	BEFREE	27745792		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28718364, 30416855		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	27666723, 28602571		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31297012		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16344322, 19010837, 21805024, 25521742, 28939099		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	14760756		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14760756, 17659711, 18756043, 19068081, 23539643	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21912471	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22791956	Inhibit	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	25889955	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	30940304		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31817940		★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	BEFREE	16965327		★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	23897578, 28991257, 30232381, 30582441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	GENOMICS_ENGLAND_DG	28991257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	CTD_human_DG	28991257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	28991257, 30232381, 30582441, 34328347	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10728593		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28607365		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28607365, 36835014	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	21767323	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	26798047		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33238953	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19589137, 32899940	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasospasm Intracranial	Intracranial vasospasm	Pubtator	25082408	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	39375631	Associate	★☆☆☆☆ Found in Text Mining only