FOXF1 (forkhead box F1)

Gene

• Entrez ID: 2294
• Gene name: Forkhead box F1
• Gene symbol: FOXF1
• Synonyms (NCBI Gene): ACDMPV, FKHL5, FREAC1
• Chromosome: 16
• Chromosome location: 16q24.1
• Summary: This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as we

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909337	T>C	Pathogenic	Terminator codon variant, stop lost
rs397854726	TTT>-,T,TT,TTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTTT	Conflicting-interpretations-of-pathogenicity, benign	3 prime UTR variant
rs672601295	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs752504125	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796420	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1481006723	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1567511932	A>C	Likely-pathogenic	Stop lost, terminator codon variant
rs1597291300	C>A	Pathogenic	Coding sequence variant, missense variant
rs1597291318	T>C	Pathogenic	Coding sequence variant, missense variant
rs1597291380	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597291554	GCGGCGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597291710	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597291719	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597291722	CCCCCTGT>-	Pathogenic	Coding sequence variant, stop gained
rs1597291767	->TGTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1597292524	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597292620	G>C	Pathogenic	Stop lost, terminator codon variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1001640	hsa-miR-3671	CLIP-seq
MIRT1001641	hsa-miR-3941	CLIP-seq
MIRT1001642	hsa-miR-466	CLIP-seq
MIRT1001643	hsa-miR-4672	CLIP-seq
MIRT1001644	hsa-miR-607	CLIP-seq
MIRT1996809	hsa-miR-4685-5p	CLIP-seq
MIRT1996810	hsa-miR-578	CLIP-seq
MIRT1996811	hsa-miR-581	CLIP-seq
MIRT1996809	hsa-miR-4685-5p	CLIP-seq
MIRT1996810	hsa-miR-578	CLIP-seq
MIRT1996811	hsa-miR-581	CLIP-seq
MIRT2429001	hsa-miR-105	CLIP-seq
MIRT2429002	hsa-miR-1251	CLIP-seq
MIRT2429003	hsa-miR-15a	CLIP-seq
MIRT2429004	hsa-miR-15b	CLIP-seq
MIRT2429005	hsa-miR-16	CLIP-seq
MIRT2429006	hsa-miR-195	CLIP-seq
MIRT2429007	hsa-miR-2052	CLIP-seq
MIRT2429008	hsa-miR-3153	CLIP-seq
MIRT2429009	hsa-miR-3162-5p	CLIP-seq
MIRT2429010	hsa-miR-424	CLIP-seq
MIRT2429011	hsa-miR-4524	CLIP-seq
MIRT2429012	hsa-miR-4719	CLIP-seq
MIRT2429013	hsa-miR-4793-3p	CLIP-seq
MIRT2429014	hsa-miR-497	CLIP-seq
MIRT2429015	hsa-miR-503	CLIP-seq
MIRT2429016	hsa-miR-553	CLIP-seq
MIRT2429017	hsa-miR-646	CLIP-seq
MIRT2429018	hsa-miR-765	CLIP-seq
MIRT2437305	hsa-miR-375	CLIP-seq
MIRT2437306	hsa-miR-382	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GLI2	Activation	23034409
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:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP	8626802
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	IEA
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	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	8626802
GO:0001568	Process	Blood vessel development	IMP	19500772
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	IMP	19500772
GO:0001756	Process	Somitogenesis	IEA
GO:0001763	Process	Morphogenesis of a branching structure	IMP	19500772
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0003197	Process	Endocardial cushion development	IMP	19500772
GO:0003214	Process	Cardiac left ventricle morphogenesis	IMP	19500772
GO:0003677	Function	DNA binding	IDA	9769171
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	9769171
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9722567
GO:0005667	Component	Transcription regulator complex	TAS	9722567
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007494	Process	Midgut development	IMP	19500772
GO:0007498	Process	Mesoderm development	IEA
GO:0007507	Process	Heart development	IMP	19500772
GO:0009887	Process	Animal organ morphogenesis	IBA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IEA
GO:0014822	Process	Detection of wounding	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030323	Process	Respiratory tube development	IMP	19500772
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	IMP	19500772
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0031016	Process	Pancreas development	IMP	19500772
GO:0043305	Process	Negative regulation of mast cell degranulation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS	7957066
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	8626802, 9769171
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	8626802
GO:0048286	Process	Lung alveolus development	IEA
GO:0048333	Process	Mesodermal cell differentiation	IEA
GO:0048371	Process	Lateral mesodermal cell differentiation	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IMP	19500772
GO:0048565	Process	Digestive tract development	IMP	19500772
GO:0048566	Process	Embryonic digestive tract development	IEA
GO:0048613	Process	Embryonic ectodermal digestive tract morphogenesis	IMP	19500772
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048731	Process	System development	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060426	Process	Lung vasculature development	IMP	19500772
GO:0060438	Process	Trachea development	IEA
GO:0060438	Process	Trachea development	IMP	19500772
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060461	Process	Right lung morphogenesis	IEA
GO:0060463	Process	Lung lobe morphogenesis	IEA
GO:0060841	Process	Venous blood vessel development	IMP	19500772
GO:0061030	Process	Epithelial cell differentiation involved in mammary gland alveolus development	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0072189	Process	Ureter development	IMP	19500772
GO:0090131	Process	Mesenchyme migration	IEA
GO:0097070	Process	Ductus arteriosus closure	IMP	19500772
GO:0098609	Process	Cell-cell adhesion	IEA

Other IDs

• MIM: 601089
• HGNC: 3809
• e!Ensembl: ENSG00000103241

Protein

• UniProt ID: Q12946
• Protein name: Forkhead box protein F1 (Forkhead-related activator 1) (FREAC-1) (Forkhead-related protein FKHL5) (Forkhead-related transcription factor 1)
• Protein function: Probable transcription activator for a number of lung-specific genes.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00250	Forkhead	47 → 133	Forkhead domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lung and placenta. {ECO:0000269|PubMed:7957066}.
• Sequence:

  MSSAPEKQQPPHGGGGGGGGGGGAAMDPASSGPSKAKKTNAGIRRPEKPPYSYIALIVMA
  IQSSPTKRLTLSEIYQFLQSRFPFFRGSYQGWKNSVRHNLSLNECFIKLPKGLGRPGKGH
  YWTIDPASEFMFEEGSFRRRPRGFRRKCQALKPMYSMMNGLGFNHLPDTYGFQGSAGGLS
  CPPNSLALEGGLGMMNGHLPGNVDGMALPSHSVPHLPSNGGHSYMGGCGGAAAGEYPHHD
  SSVPASPLLPTGAGGVMEPHAVYSGSAAAWPPSASAALNSGASYIKQQPLSPCNPAANPL
  SGSLSTHSLEQPYLHQNSHNAPAELQGIPRYHSQSPSMCDRKEFVFSFNAMASSSMHSAG
  GGSYYHQQVTYQDIKPCVM

• Sequence length: 379

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
Alveolar capillary dysplasia with pulmonary venous misalignment	Pathogenic; Likely pathogenic	rs1393788111, rs2143184846, rs2143184507, rs2143186831, rs2143187004, rs2143187074, rs121909336, rs121909337, rs2143186824, rs2507451617, rs2471967457, rs2507454270, rs1030195503, rs2507450474, rs2507450358, rs2507450502, rs2507451417, rs2507450540, rs1057518868, rs1567511932, rs1597291554, rs376766270, rs1597291206, rs1597291235, rs1597291255, rs1597291300, rs1597291318, rs1481006723, rs1597291710, rs1597291719, rs1597291722, rs1597291767, rs1597292524, rs1597292620, rs1597291380, rs1969548621, rs1969566259, rs1969592103, rs1969550135, rs1969550367, rs1969550532, rs1969566429, rs1969549826, rs1969550671	RCV001331935 RCV001731125 RCV001733841 RCV001733881 RCV001783307 RCV005930170 RCV000008983 RCV000008984 RCV000008985 RCV003143289 RCV003225611 RCV003233461 RCV003335916 RCV003335952 RCV003335980 RCV005250309 RCV004555181 RCV004566540 RCV004566641 RCV001198324 RCV000678975 RCV000853342 RCV000984334 RCV000984345 RCV000984333 RCV000984337 RCV000984339 RCV000984341 RCV000984343 RCV000984340 RCV000984344 RCV000984342 RCV000984335 RCV000984336 RCV000984332 RCV000984338 RCV001007918 RCV001199825 RCV001199826 RCV001172234 RCV001172235 RCV001251453 RCV001251452 RCV001251454 RCV001291933 RCV001291932	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atresia of urethra	Likely pathogenic	rs1057518868	RCV000415110	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal megacystis	Likely pathogenic	rs1057518868	RCV000415110	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FOXF1-related disorder	Pathogenic	rs751560567	RCV003392971	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyloric stenosis, infantile hypertrophic, 5	Likely pathogenic	rs672601295	RCV000119307	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VATER association	Likely pathogenic	rs752504125	RCV000201858	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular septal defect	Likely pathogenic	rs1057518868	RCV000415110	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC AND/OR FAMILIAL PULMONARY ARTERIAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES, OBSTRUCTIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL/VATER ASSOCIATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	30474876		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23103611		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	24121790, 26383589, 28398355		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	BEFREE	19500772, 20425831, 23505205, 25627281, 25899071, 28256047, 31199666		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	ORPHANET_DG	19500772, 23505205		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	19500772, 21315191, 23505205, 26462560, 32036090, 32169823, 32600276, 33832123, 34325731, 37586735, 37865798	Associate	★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	27425595		★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	23023706, 25627281		★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	BEFREE	23407133		★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary vein	Anomalous pulmonary venous return	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	31074124		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32271448, 33008472	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23335808		★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	23023706, 25627281		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	22961001, 24121790, 25447851, 26383589	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	23504527, 24121790, 25447851, 26383589, 26822871		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	33495575	Stimulate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	19220249		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20145151, 20587515, 21964066, 23022474, 26908052, 30189360, 30253191		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20587515, 21964066, 33742056, 34215221	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23103611	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	31233341		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	28797033		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23103611, 33627785	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	20587515	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20233876, 25237908, 27577075, 30189360, 30253191		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34257615	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34257615	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28629226		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	23103611	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21964066, 23103611, 28404937, 30189360, 30253191		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23103611, 24485021, 28404937, 35468741, 37847578	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	19500772	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital alveolar capillary dysplasia	Alveolar capillary dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of gastrointestinal tract	Congenital anomaly of digestive tract	BEFREE	28256047		★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary valve	Congenital Atresia Of Pulmonary Valve	HPO_DG			★☆☆☆☆ 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		★☆☆☆☆ Found in Text Mining only
Congenital hemihypertrophy	Congenital Hemihypertrophy	BEFREE	25627281		★☆☆☆☆ 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 malformation syndrome	Congenital Malformation Syndrome	BEFREE	19500772		★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	BEFREE	19500772, 23407133		★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	25627281		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	21315191, 23034409, 25105258, 26462560, 32169823	Associate	★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	30632303		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	21315191	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	23943206, 27071622, 27145217, 31686214		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29901136		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	20587515		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	BEFREE	31074124		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	19822228		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23504527		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33495575	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	23504527, 26383589		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	26625197		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	26625197		★☆☆☆☆ Found in Text Mining only
Fetal megacystis	Fetal megacystis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrosis, Liver	Liver Fibrosis	BEFREE	30670377		★☆☆☆☆ Found in Text Mining only
Gallbladder, Agenesis Of	Agenesis Of Gallbladder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	26822871		★☆☆☆☆ Found in Text Mining only
Gastrointestinal atresia	Gastrointestinal atresia	BEFREE	23444129		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	19500772	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	30565344		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29431674		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroparesis	Gastroparesis	BEFREE	30565344		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27071622	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	35992538	Associate	★☆☆☆☆ Found in Text Mining only
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	BEFREE	25627281		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28939119		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	Pubtator	36980834	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	28332379, 31686214, 33832123, 37567389, 39542781	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27145217, 31686214		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	BEFREE	19500772, 31074124		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	19500772, 27071622	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25260753		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23335808		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	29901136		★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	20587515		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	21315191, 23943206, 25472632, 26462560, 28405742, 30084155, 31662342		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23034409, 23943206, 26462560, 33739555, 35533956, 37463497	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	25105258, 29569581	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	25105258		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	CTD_human_DG	18421012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	27577075	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	23103611		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23103611	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20145151, 20587515, 21964066, 23022474, 26908052, 30189360, 30253191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20233876, 25237908, 27577075, 30189360, 30253191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19220249		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28398355, 28404937		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19220249, 20145151, 20233876, 23103611, 24186199, 29431674		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26908052		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	CTD_human_DG	18421012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	21641374	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20587515, 21964066, 23103611, 24121790, 25237908, 26625197, 27425595, 29162563, 29293945, 30253191		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22961001	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29104509, 29678578		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34215221	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31498939		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Persistent Fetal Circulation Syndrome	Persistent Fetal Circulation	BEFREE	19500772, 21315191, 22990143, 23034409, 23407133, 23444129, 23505205, 23943206, 24722050, 24842713, 25105258, 25472632, 26462560, 26703872, 27071622, 27145217, 28332379, 28405742, 30084155, 30380203, 31199666, 31436901, 31662342, 31686214		★☆☆☆☆ Found in Text Mining only
Persistent Fetal Circulation Syndrome	Persistent Fetal Circulation	UNIPROT_DG	19500772, 23505205, 27145217		★☆☆☆☆ Found in Text Mining only
Persistent Fetal Circulation Syndrome	Persistent Fetal Circulation	GENOMICS_ENGLAND_DG	27071622, 30058937		★☆☆☆☆ Found in Text Mining only
Persistent Fetal Circulation Syndrome	Persistent Fetal Circulation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19220249		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35902696	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary capillary hemangiomatosis	Pulmonary capillary hemangiomatosis	BEFREE	26462560		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29642003		★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Hypertrophic	Congenital hypertrophic pyloric stenosis	BEFREE	27855150		★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Infantile Hypertrophic, 5	Hypertrophic Pyloric Stenosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Respiratory Failure	Respiratory Failure	BEFREE	25627281, 27095594		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	21271214, 27425595		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33627785	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28398355, 28404937		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28398355, 28404937, 34319035	Associate	★☆☆☆☆ Found in Text Mining only
Surfactant Metabolism Dysfunction Pulmonary 1	Pulmonary surfactant metabolism dysfunction	Pubtator	25105258	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	35533956	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	35533956	Associate	★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	BEFREE	19822228, 21315191		★☆☆☆☆ Found in Text Mining only
VACTERL association	Vacterl association	Pubtator	21315191, 34338422	Associate	★☆☆☆☆ Found in Text Mining only
VATER association	Vacterl association	Pubtator	34338422	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VATER/VACTERL ASSOCIATION	VACTERL ASSOCIATION	CLINVAR_DG	2629409		★☆☆☆☆ Found in Text Mining only
VATER/VACTERL ASSOCIATION	VACTERL ASSOCIATION	BEFREE	26294094		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations