FOXE3 (forkhead box E3)

Gene

• Entrez ID: 2301
• Gene name: Forkhead box E3
• Gene symbol: FOXE3
• Synonyms (NCBI Gene): AAT11, ASGD2, CATC3, CTRCT34, FKHL12, FREAC8
• Chromosome: 1
• Chromosome location: 1p33
• Summary: This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens format

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1001627	hsa-miR-122	CLIP-seq
MIRT1001628	hsa-miR-149	CLIP-seq
MIRT1001629	hsa-miR-2115	CLIP-seq
MIRT1001630	hsa-miR-224	CLIP-seq
MIRT1001631	hsa-miR-3064-5p	CLIP-seq
MIRT1001632	hsa-miR-3126-3p	CLIP-seq
MIRT1001633	hsa-miR-4256	CLIP-seq
MIRT1001634	hsa-miR-4294	CLIP-seq
MIRT1001635	hsa-miR-4433	CLIP-seq
MIRT1001636	hsa-miR-4475	CLIP-seq
MIRT1001637	hsa-miR-4794	CLIP-seq
MIRT1001638	hsa-miR-665	CLIP-seq
MIRT1001639	hsa-miR-765	CLIP-seq
MIRT2230752	hsa-miR-1253	CLIP-seq
MIRT1001630	hsa-miR-224	CLIP-seq
MIRT1001633	hsa-miR-4256	CLIP-seq
MIRT1001634	hsa-miR-4294	CLIP-seq
MIRT2230753	hsa-miR-4419a	CLIP-seq
MIRT1001635	hsa-miR-4433	CLIP-seq
MIRT2230754	hsa-miR-4434	CLIP-seq
MIRT2230755	hsa-miR-4457	CLIP-seq
MIRT2230756	hsa-miR-4510	CLIP-seq
MIRT2230757	hsa-miR-4516	CLIP-seq
MIRT2230758	hsa-miR-513b	CLIP-seq
MIRT1001638	hsa-miR-665	CLIP-seq
MIRT1001630	hsa-miR-224	CLIP-seq
MIRT1001633	hsa-miR-4256	CLIP-seq
MIRT1001634	hsa-miR-4294	CLIP-seq
MIRT1001635	hsa-miR-4433	CLIP-seq
MIRT1001638	hsa-miR-665	CLIP-seq
MIRT2534711	hsa-miR-3132	CLIP-seq
MIRT2534712	hsa-miR-4447	CLIP-seq
MIRT2534713	hsa-miR-4472	CLIP-seq
MIRT2534711	hsa-miR-3132	CLIP-seq
MIRT2534712	hsa-miR-4447	CLIP-seq
MIRT2534713	hsa-miR-4472	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	IMP	27218149
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0002088	Process	Lens development in camera-type eye	IMP	27218149
GO:0002088	Process	Lens development in camera-type eye	ISS	17064680
GO:0002930	Process	Trabecular meshwork development	IEA
GO:0002930	Process	Trabecular meshwork development	ISS	17064680
GO:0003677	Function	DNA binding	IDA	25504734
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10652278, 25504734
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8825632
GO:0005634	Component	Nucleus	IDA	25504734
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IDA	10652278
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	10652278
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0030154	Process	Cell differentiation	IBA
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	27218149
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	22527307
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS	11980846
GO:0048468	Process	Cell development	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	22527307
GO:0061072	Process	Iris morphogenesis	IEA
GO:0061072	Process	Iris morphogenesis	ISS	17064680
GO:0061073	Process	Ciliary body morphogenesis	IEA
GO:0061073	Process	Ciliary body morphogenesis	ISS	17064680
GO:0061303	Process	Cornea development in camera-type eye	IEA
GO:0061303	Process	Cornea development in camera-type eye	ISS	17064680
GO:1902747	Process	Negative regulation of lens fiber cell differentiation	IEA
GO:1902747	Process	Negative regulation of lens fiber cell differentiation	ISS	16199865
GO:2001111	Process	Positive regulation of lens epithelial cell proliferation	IEA
GO:2001111	Process	Positive regulation of lens epithelial cell proliferation	IMP	22527307
GO:2001111	Process	Positive regulation of lens epithelial cell proliferation	ISS	16199865

Other IDs

• MIM: 601094
• HGNC: 3808
• e!Ensembl: ENSG00000186790

Protein

• UniProt ID: Q13461
• Protein name: Forkhead box protein E3 (Forkhead-related protein FKHL12) (Forkhead-related transcription factor 8) (FREAC-8)
• Protein function: Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00250	Forkhead	70 → 156	Forkhead domain	Domain

• Sequence:

  MAGRSDMDPPAAFSGFPALPAVAPSGPPPSPLAGAEPGREPEEAAAGRGEAAPTPAPGPG
  RRRRRPLQRGKPPYSYIALIAMALAHAPGRRLTLAAIYRFITERFAFYRDSPRKWQNSIR
  HNLTLNDCFVKVPREPGNPGKGNYWTLDPAAADMFDNGSFLRRRKRFKRAELPAHAAAAP
  GPPLPFPYAPYAPAPGPALLVPPPSAGPGPSPPARLFSVDSLVNLQPELAGLGAPEPPCC
  AAPDAAAAAFPPCAAAASPPLYSQVPDRLVLPATRPGPGPLPAEPLLALAGPAAALGPLS
  PGEAYLRQPGFASGLERYL

• Sequence length: 319

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
Anterior segment dysgenesis	Pathogenic; Likely pathogenic	rs1464817302, rs1035206433, rs958241794, rs2124042660, rs1465921700, rs958293767, rs2521317897, rs80358194, rs1325345116, rs1176723126, rs2521321688, rs1167122307, rs377669670, rs1646883385, rs762006562	RCV003771269 RCV001930870 RCV001958937 RCV001921609 RCV001948196 RCV003005444 RCV003054429 RCV001200038 RCV003785664 RCV003788152 RCV003801268 RCV003812726 RCV001062090 RCV001041075 RCV001203942	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs377669670	RCV004023273	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 34 multiple types	Pathogenic	rs2124045186, rs387906793, rs1057518738	RCV001391241 RCV001391240 RCV000412546	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital primary aphakia	Pathogenic; Likely pathogenic	rs1464817302, rs2124041750, rs2124042297, rs772347736, rs2124043339, rs1035206433, rs958241794, rs2124042660, rs1465921700, rs1646884931, rs958293767, rs2521317897, rs1570406175, rs80358194, rs1325345116, rs1176723126, rs2521321688, rs1167122307, rs2521323759, rs387906793, rs377669670, rs1646883385, rs762006562, rs774505755	RCV001391232 RCV001391233 RCV001391234 RCV001391237 RCV001391235 RCV001930870 RCV001958937 RCV001921609 RCV001948196 RCV002291177 RCV003005444 RCV003054429 RCV000008962 RCV000008963 RCV003785664 RCV003788152 RCV003801268 RCV003812726 RCV004557233 RCV000023071 RCV001062090 RCV001041075 RCV001203942 RCV001267882	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOXE3-related disorder	Likely pathogenic	rs2521318388	RCV003408347	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute aortic dissection	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior segment dysgenesis 1	Benign; Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANTERIOR SEGMENT DYSGENESIS 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic aneurysm, familial thoracic 11, susceptibility to	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, GWAS catalog CTD, ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
APHAKIA, CONGENITAL PRIMARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 34, MULTIPLE TYPE S	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 3	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital aneurysm of ascending aorta	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL APHAKIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSECTION, AORTIC ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar ClinGen, ClinVar, Disgenet, GenCC, Orphanet ClinGen, ClinVar, Disgenet, GenCC, Orphanet ClinGen, ClinVar, Disgenet, GenCC, Orphanet ClinGen, ClinVar, Disgenet, GenCC, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IRIDO-CORNEO-TRABECULAR DYSGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aniridia	Aniridia	BEFREE	20806047		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	20806047, 34046667	Associate	★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	22204637	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	20140963		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	22204637	Associate	★☆☆☆☆ Found in Text Mining only
Anterior segment developmental anomaly	Anterior segment anomalies	Orphanet			★☆☆☆☆ Found in Text Mining only
ANTERIOR SEGMENT DYSGENESIS 1	Segment dysgenesis	GENOMICS_ENGLAND_DG	21150893, 24859618, 3550563		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANTERIOR SEGMENT DYSGENESIS 1	Segment dysgenesis	ORPHANET_DG	21150893		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Anterior segment mesenchymal dysgenesis	Anterior segment dysgenesis	BEFREE	11159941, 27218149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	20664696, 21150893, 32224865, 32976546, 34046667	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior segment mesenchymal dysgenesis	Anterior segment dysgenesis	ORPHANET_DG	21150893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior segment mesenchymal dysgenesis	Anterior segment dysgenesis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior synechiae	Synechiae	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	26854927		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphakia congenital primary	Congenital primary aphakia	Pubtator	20361012	Associate	★☆☆☆☆ Found in Text Mining only
Aphakia, congenital primary	Congenital primary aphakia	UNIPROT_DG	11159941, 11980846, 16826526, 19708017, 25504734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphakia, congenital primary	Congenital primary aphakia	BEFREE	16826526, 17344231, 19708017, 20361012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphakia, congenital primary	Congenital primary aphakia	ORPHANET_DG	16826526		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphakia, congenital primary	Congenital primary aphakia	GENOMICS_ENGLAND_DG	21150893, 27218149, 3550563		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphakia, congenital primary	Congenital primary aphakia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphakia, congenital primary	Congenital primary aphakia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	21150893		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	21150893		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21150893		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	32499604	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	BEFREE	20140963		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	11159941, 20140963, 29713869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	20806047, 34046667, 37203095	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Autosomal Recessive Congenital 3	Cataract	UNIPROT_DG	27218149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Autosomal Recessive Congenital 3	Cataract	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	24829271		★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital aphakia	Congenital aphakia	BEFREE	28805541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital aphakia	Congenital aphakia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	20806047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	24859618		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital primary aphakia	Congenital Primary Aphakia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	34046667	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Descending aortic dissection	Descending aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34046667	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10799560	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	20806047, 34046667	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	32976546, 34046667	Associate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	ORPHANET_DG	26854927		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	26854927		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma	Glaucoma	BEFREE	25504734		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	11159941, 11980846, 19708017, 20140963, 27218149, 29136273		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	11980846, 27218149		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	ORPHANET_DG	27218149		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	32976546	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	24829271		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	19708017, 20140963, 24019743, 29136273, 29878917		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	20664696, 22204637, 24019743, 34046667	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior synechiae	Synechiae	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	BEFREE	24019743, 29878917		★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31831170		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	32976546	Associate	★☆☆☆☆ Found in Text Mining only