FOXC2 (forkhead box C2)

Gene

• Entrez ID: 2303
• Gene name: Forkhead box C2
• Gene symbol: FOXC2
• Synonyms (NCBI Gene): FKHL14, LD, MFH-1, MFH1
• Chromosome: 16
• Chromosome location: 16q24.1
• Summary: This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchy

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736033	hsa-miR-548c-5p	Luciferase reporter assay, Immunoprecipitaion (IP)	31531679

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Repression	22120723
GATA3	Repression	22120723
GLI2	Unknown	19360354

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	20956529
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	20956529
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001216	Function	DNA-binding transcription activator activity	IDA	9169153
GO:0001216	Function	DNA-binding transcription activator activity	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	20956529
GO:0001501	Process	Skeletal system development	IEA
GO:0001503	Process	Ossification	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001656	Process	Metanephros development	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001945	Process	Lymph vessel development	IEA
GO:0001946	Process	Lymphangiogenesis	IMP	12114478
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003275	Process	Apoptotic process involved in outflow tract morphogenesis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IC	9169153
GO:0005634	Component	Nucleus	IDA	11562355, 16081467
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007498	Process	Mesoderm development	NAS	8674414
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	21457232
GO:0008283	Process	Cell population proliferation	IEA
GO:0008286	Process	Insulin receptor signaling pathway	IDA	16456100
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009725	Process	Response to hormone	IDA	16456100
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	ISS
GO:0014032	Process	Neural crest cell development	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IBA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	16456100
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	ISS
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035470	Process	Positive regulation of vascular wound healing	IEA
GO:0035470	Process	Positive regulation of vascular wound healing	ISS
GO:0042802	Function	Identical protein binding	IPI	25609649
GO:0043010	Process	Camera-type eye development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	16081467
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9169153, 16081467
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20956529
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046620	Process	Regulation of organ growth	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IEA
GO:0048341	Process	Paraxial mesoderm formation	IEA
GO:0048343	Process	Paraxial mesodermal cell fate commitment	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048703	Process	Embryonic viscerocranium morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048844	Process	Artery morphogenesis	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0072011	Process	Glomerular endothelium development	IEA
GO:0072112	Process	Podocyte differentiation	IEA
GO:0072144	Process	Glomerular mesangial cell development	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	ISS
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IMP	11551504
GO:1902257	Process	Negative regulation of apoptotic process involved in outflow tract morphogenesis	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	ISS

Other IDs

• MIM: 602402
• HGNC: 3801
• e!Ensembl: ENSG00000176692

Protein

• UniProt ID: Q99958
• Protein name: Forkhead box protein C2 (Forkhead-related protein FKHL14) (Mesenchyme fork head protein 1) (MFH-1 protein) (Transcription factor FKH-14)
• Protein function: Transcriptional activator.
• PDB: 1D5V, 6AKO, 6AKP, 6LBM, 6O3T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00250	Forkhead	71 → 157	Forkhead domain	Domain

• Sequence:

  MQARYSVSDPNALGVVPYLSEQNYYRAAGSYGGMASPMGVYSGHPEQYSAGMGRSYAPYH
  HHQPAAPKDLVKPPYSYIALITMAIQNAPEKKITLNGIYQFIMDRFPFYRENKQGWQNSI
  RHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDVSKEKEER
  AHLKEPPPAASKGAPATPHLADAPKEAEKKVVIKSEAASPALPVITKVETLSPESALQGS
  PRSAASTPAGSPDGSLPEHHAAAPNGLPGFSVENIMTLRTSPPGGELSPGAGRAGLVVPP
  LALPYAAAPPAAYGQPCAQGLEAGAAGGYQCSMRAMSLYTGAERPAHMCVPPALDEALSD
  HPSGPTSPLSALNLAAGQEGALAATGHHHQHHGHHHPQAPPPPPAPQPQPTPQPGAAAAQ
  AASWYLNHSGDLNHLPGHTFAAQQQTFPNVREMFNSHRLGIENSTLGESQVSGNASCQLP
  YRSTPPLYRHAAPYSYDCTKY

• Sequence length: 501

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
Distichiasis-lymphedema syndrome	Pathogenic; Likely pathogenic	rs1974229664, rs2144018707, rs2144019324, rs2144020781, rs104894516, rs1567571702, rs1567571141, rs1597403198, rs1567571075, rs1567571065, rs1567571345, rs1567571276, rs1567571564, rs1567571360, rs121909106, rs121909107, rs2507945608, rs2507946080, rs1567571184, rs1043354227, rs1567571823, rs1567571863, rs1597402936, rs1974216738, rs1974220729, rs1974224118	RCV001334377 RCV001783306 RCV006269530 RCV002250893 RCV000007671 RCV000007672 RCV000007673 RCV000007674 RCV000007675 RCV000007676 RCV000007677 RCV000007678 RCV000007679 RCV000007681 RCV000007682 RCV000007683 RCV003335925 RCV004555159 RCV000735835 RCV000735836 RCV000735837 RCV000735838 RCV000853361 RCV001172315 RCV001269288 RCV001289547	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOXC2-related disorder	Likely pathogenic; Pathogenic	rs2507945813, rs2507945700, rs2507945808, rs2507945223	RCV003406070 RCV003416962 RCV003896623 RCV003982659	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS	Pathogenic	rs1567571636	RCV000007680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs1223233551, rs1567571564	RCV001376048 RCV005357091	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BLEPHAROPTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULOSKELETAL ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYELID DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHEDEMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHEDEMA DISTICHIASIS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHEDEMA-DISTICHIASIS SYNDROME	—	ClinGen, GWAS catalog, HPO, Orphanet ClinGen, GWAS catalog, HPO, Orphanet ClinGen, GWAS catalog, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory kidney	Accessory Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26758745		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	26125751		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	BEFREE	20425831		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	19935708		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26733175		★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cysts	Pubtator	20535019, 26545093	Associate	★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	BEFREE	24278289, 30673833		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32271448	Associate	★☆☆☆☆ Found in Text Mining only
Axenfeld anomaly (disorder)	Axenfeld anomaly	BEFREE	10767326		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	20450314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	22374725, 23378344, 27064522, 27292262, 28894844		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25053741, 25486430, 26210254, 27064522, 29216867	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29562954	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25289898, 29801468, 39344752	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	25413006	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22410781, 30720176		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	32222147	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26733175	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27031776, 27283491	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	25413006	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28693215		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	26125751		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24700112, 27336949		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	11078474	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Abnormalities	Cardiovascular Abnormalities	CTD_human_DG	9409679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19185813		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24641373, 29151910		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24641373, 29151910		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	23919841	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	29465790		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	24608096	Associate	★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	27283491		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35436926	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25069037, 25381815		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29202800, 36961205	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32513911	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	28544699		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	16678147		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CTD_human_DG	27663689		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	20425831, 28675425		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	CTD_human_DG	27663689		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Morgagni	Morgagni diaphragmatic hernia	CTD_human_DG	27663689		★☆☆☆☆ Found in Text Mining only
Congenital musculoskeletal anomalies	Congenital Musculoskeletal Anomalies	CTD_human_DG	9106663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	37406974	Associate	★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	28253399		★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	35436926	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	BEFREE	31710307		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35532201	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15523639		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11551504, 12540636, 14530861, 15597109, 21283750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	BEFREE	14530861, 15601967		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	LHGDN	15601967		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	15601967	Associate	★☆☆☆☆ Found in Text Mining only
Ectopic pupil	Ectopic Pupil	BEFREE	28253399		★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	16419129, 25252123	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	26125751		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26125751		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	20803080		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	20803080		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32925786	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32341351, 32925786	Associate	★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23919841		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33336729	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	17372167	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	10767326		★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	30657791	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24406047		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24406047		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25605149		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25605149	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	17372167, 24608096	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	25006132		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	25006132		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	29465790		★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	30657791		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG	11078474		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	19394045, 30253460		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	25252123	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	BEFREE	19500772		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	14569043	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	15198934, 15601967, 35532201	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35436926	Associate	★☆☆☆☆ Found in Text Mining only
Interrupted aortic arch	Interrupted aortic arch	BEFREE	9409679		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	26824865		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15523639		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25289898, 29131008, 29801468		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29801468		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29801468	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	25413006	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30720176	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23919841, 32925786	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	26125751		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	11078474, 17372167, 18564920, 22351697, 23613720, 25252123, 34656527	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema distichiasis syndrome	Lymphedema-Distichiasis Syndrome	BEFREE	11078474, 11371511, 12383817, 12543715, 12719382, 15523639, 16081467, 16419129, 19013876, 19760751, 20218083, 20450314, 20535019, 20552815, 24278289, 27346194, 28675425, 29406328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema distichiasis syndrome	Lymphedema-Distichiasis Syndrome	CTD_human_DG	11078474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema distichiasis syndrome	Lymphedema-Distichiasis Syndrome	UNIPROT_DG	11078474, 11371511, 11499682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema distichiasis syndrome	Lymphedema-Distichiasis Syndrome	GENOMICS_ENGLAND_DG	11078474, 15523639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema distichiasis syndrome	Lymphedema	Pubtator	11078474, 11694548, 12114478, 12740761, 15744037, 16419129, 17372167, 20535019, 27346194, 27570485, 33925370, 35227307, 40073585	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema distichiasis syndrome	Lymphedema-Distichiasis Syndrome	ORPHANET_DG	12383817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema distichiasis syndrome	Lymphedema-Distichiasis Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema-distichiasis syndrome	Lymphedema-Distichiasis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus	Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus	GENOMICS_ENGLAND_DG	15523639		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus	Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	12810255		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17537911, 22374725, 23378344, 27064522, 27292262, 28894844		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	20803080		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22410781, 30720176		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24700112, 27336949		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26804168, 28302679, 31379747		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25216525		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20060810, 24641373, 24647631, 24700685, 25289898, 25573594, 26733175, 26804168, 29055713, 29087350, 29341903, 29577543, 29801468, 30279969, 31659103		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24641373, 29151910		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17537911		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23378344, 25677742, 25990538		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31659103		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	22407726		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	22407726	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	12453913		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	22407726	Associate	★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	11078474, 16081467, 18519967, 18564920, 19760751, 21918810, 22768468, 27276711		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31082401		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25896630, 28433696		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	BEFREE	20450314		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20060810, 20803080, 22374725, 24700685, 25381815, 25573594, 25605149, 25677742, 26758745, 26804168, 29131008, 29801468, 31659103		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20460685, 26758745, 30302523, 31396359		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11551504, 15198934, 15597109, 15601967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	15198934, 15601967, 33193083, 34890032	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	28323030, 29562954		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29562954, 32249539, 33193083	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24700112, 27336949		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27562816, 35392966	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	26733175		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26733175	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	25677742		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	20186799		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26804168, 28302679, 31379747		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31464093	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	20450314		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	21918810		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	20218083		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24647631		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20803080		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24647631, 25573594	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	28693215		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	25573594		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25216525		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	20218083		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	11694548, 25093829	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	CTD_human_DG	25093829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26210254, 27064522, 29216867		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26210254	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	12485195		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24641373	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	12114478, 15744037, 17372167, 26808710	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	24608096, 34212977	Stimulate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	15744037, 22664280, 24608096, 26420053, 26808710, 31801629		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	17372167	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only