FOXL2 (forkhead box L2)

Gene

• Entrez ID: 668
• Gene name: Forkhead box L2
• Gene symbol: FOXL2
• Synonyms (NCBI Gene): BPES, BPES1, PFRK, PINTO, POF3
• Chromosome: 3
• Chromosome location: 3q22.3
• Summary: This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepha

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438580	hsa-miR-133b	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	23810756
MIRT438580	hsa-miR-133b	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	23810756
MIRT438580	hsa-miR-133b	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	23810756
MIRT438580	hsa-miR-133b	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	23810756
MIRT458211	hsa-miR-8084	PAR-CLIP	23592263
MIRT458210	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT458209	hsa-miR-141-5p	PAR-CLIP	23592263
MIRT458208	hsa-miR-1253	PAR-CLIP	23592263
MIRT458207	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT458206	hsa-miR-520a-5p	PAR-CLIP	23592263
MIRT458205	hsa-miR-525-5p	PAR-CLIP	23592263
MIRT458204	hsa-miR-3915	PAR-CLIP	23592263
MIRT458203	hsa-miR-3180-5p	PAR-CLIP	23592263
MIRT458211	hsa-miR-8084	PAR-CLIP	23592263
MIRT458210	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT458209	hsa-miR-141-5p	PAR-CLIP	23592263
MIRT458208	hsa-miR-1253	PAR-CLIP	23592263
MIRT458207	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT458206	hsa-miR-520a-5p	PAR-CLIP	23592263
MIRT458205	hsa-miR-525-5p	PAR-CLIP	23592263
MIRT458204	hsa-miR-3915	PAR-CLIP	23592263
MIRT458203	hsa-miR-3180-5p	PAR-CLIP	23592263
MIRT1002469	hsa-miR-1538	CLIP-seq
MIRT1002470	hsa-miR-23a	CLIP-seq
MIRT1002471	hsa-miR-23b	CLIP-seq
MIRT1002472	hsa-miR-23c	CLIP-seq
MIRT1002473	hsa-miR-3194-5p	CLIP-seq
MIRT1002474	hsa-miR-3667-3p	CLIP-seq
MIRT1002475	hsa-miR-4279	CLIP-seq
MIRT1002476	hsa-miR-4455	CLIP-seq
MIRT1002477	hsa-miR-4662a-5p	CLIP-seq
MIRT1002478	hsa-miR-4676-5p	CLIP-seq
MIRT1002479	hsa-miR-4745-3p	CLIP-seq
MIRT1002480	hsa-miR-4761-5p	CLIP-seq
MIRT1002481	hsa-miR-575	CLIP-seq
MIRT2230952	hsa-miR-665	CLIP-seq

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: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	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001541	Process	Ovarian follicle development	IMP	12161610
GO:0001541	Process	Ovarian follicle development	ISS
GO:0001555	Process	Oocyte growth	IEA
GO:0002074	Process	Extraocular skeletal muscle development	IMP	12630957
GO:0003677	Function	DNA binding	IDA	16720712
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	11175783
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	NAS	11175783, 12471206
GO:0005515	Function	Protein binding	IPI	16153597
GO:0005634	Component	Nucleus	IDA	12471206
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006309	Process	Apoptotic DNA fragmentation	IMP	16153597
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007338	Process	Single fertilization	IEA
GO:0008585	Process	Female gonad development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0019101	Process	Female somatic sex determination	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	NAS	12471206
GO:0030331	Function	Nuclear estrogen receptor binding	IEA
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IPI	19744555
GO:0033686	Process	Positive regulation of luteinizing hormone secretion	IEA
GO:0043028	Function	Cysteine-type endopeptidase regulator activity involved in apoptotic process	IMP	16153597
GO:0043065	Process	Positive regulation of apoptotic process	IGI	16153597
GO:0043065	Process	Positive regulation of apoptotic process	IMP	16153597
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	19744555
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046881	Process	Positive regulation of follicle-stimulating hormone secretion	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEA
GO:0060014	Process	Granulosa cell differentiation	IEA
GO:0060065	Process	Uterus development	IEA
GO:0090543	Component	Flemming body	IDA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 605597
• HGNC: 1092
• e!Ensembl: ENSG00000183770

Protein

• UniProt ID: P58012
• Protein name: Forkhead box protein L2
• Protein function: Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional rep
• PDB: 7VOU, 7VOV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00250	Forkhead	53 → 139	Forkhead domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: In addition to its expression in the developing eyelid, it is transcribed very early in somatic cells of the developing gonad (before sex determination) and its expression persists in the follicular cells of the adult ovary.
• Sequence:

  MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYV
  ALIAMAIRESAEKRLTLSGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGG
  GERKGNYWTLDPACEDMFEKGNYRRRRRMKRPFRPPPAHFQPGKGLFGAGGAAGGCGVAG
  AGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCQMAAAAAAAAAAAAAAGPGSPG
  AAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLH
  AAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSY
  WDHDSKTGALHSRLDL

• Sequence length: 376

Pathways

Reactome:

SUMOylation of transcription factors

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
Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic; Pathogenic	rs201840174, rs2107743541, rs1057516159, rs2473812496, rs2473815062, rs672601358, rs672601359, rs672601357, rs797044529, rs797044531, rs797044527, rs104893741, rs387906321, rs863225452, rs797044528, rs797044532, rs104893738, rs387906322, rs104893739, rs2473811785, rs2473815051, rs2473812186, rs2473814801, rs1057516185, rs1057516184, rs1057516183, rs1057516182, rs1057516181, rs1057516179, rs1057516180, rs1057516178, rs1057516176, rs1057516175, rs1057516174, rs1057516173, rs1057516172, rs764243782, rs1057516170, rs1057516166, rs1057516168, rs1057516167, rs1057516165, rs1057516164, rs1057516163, rs1057516161, rs1553752890, rs1057516158, rs1057516157, rs1057516156, rs1057516153, rs1057516151, rs1057516150, rs1057516149, rs387906920, rs1057516145, rs1057516144, rs1057516142, rs1057516141, rs1057516140, rs1057516139, rs1553752945, rs1060499717, rs1553752849, rs1559921677, rs1559921797, rs1559921800, rs1576469579, rs1559921849, rs1559921874, rs1559921944, rs1559921973, rs1559922013, rs1559922026, rs1559922033, rs1559922136, rs1559922257, rs1559922261, rs1559922308, rs1559922381, rs1559922462, rs1559922470, rs1559922472, rs1559922473, rs1559922476, rs1559922498, rs1559922528, rs1226344391, rs1559922558, rs1559922577, rs1559922621, rs1315073489, rs1559922628, rs1559922634, rs1559922647, rs1559922657, rs759236439, rs1559922782, rs1559922829	RCV005409620 RCV002251230 RCV002273098 RCV002283805 RCV002283948 RCV000149461 RCV000149462 RCV000149460 RCV000192037 RCV000192039 RCV000192032 RCV000192033 RCV000408801 RCV000785831 RCV000192036 RCV000192041 RCV002496265 RCV002490318 RCV000005141 RCV000192040 RCV003314082 RCV003984388 RCV003991932 RCV004555293 RCV000408792 RCV000408893 RCV000408828 RCV000408783 RCV000408867 RCV000408869 RCV000408840 RCV000408820 RCV000408862 RCV000408754 RCV000408856 RCV000408791 RCV000408895 RCV000408845 RCV000408883 RCV000408843 RCV000408822 RCV000408786 RCV000408870 RCV000408781 RCV000408864 RCV000408815 RCV000408857 RCV000408885 RCV000408861 RCV000408795 RCV000408897 RCV000408833 RCV000408824 RCV000408814 RCV000408774 RCV000408873 RCV000408818 RCV000408759 RCV000408860 RCV000408770 RCV000408854 RCV000408789 RCV000408892 RCV000504566 RCV000449613 RCV000677693 RCV000785840 RCV000785839 RCV000785859 RCV000785862 RCV000785861 RCV000785860 RCV000785858 RCV000785857 RCV000785856 RCV000785855 RCV000785853 RCV000785852 RCV000785851 RCV000785850 RCV000785849 RCV000785848 RCV000785847 RCV000785846 RCV000785845 RCV000785844 RCV000785843 RCV000785838 RCV000785837 RCV000785836 RCV000785835 RCV000785834 RCV000785833 RCV000785832 RCV000785829 RCV000785830 RCV000785828 RCV000785827 RCV000785826 RCV000785825 RCV000785842 RCV000785841 RCV001029899	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	Pathogenic	rs104893741, rs863225450, rs863225451, rs797044528, rs104893737, rs104893738, rs28937884, rs121908358, rs797044532, rs863225453, rs387906322	RCV000005126 RCV000005129 RCV000005130 RCV000005133 RCV000005135 RCV000005136 RCV000005139 RCV000005140 RCV000005142 RCV000005143 RCV000005146	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II	Pathogenic; Likely pathogenic	rs387906321, rs863225452, rs797044528, rs797044532, rs104893738, rs387906322, rs387906920	RCV000005127 RCV000005131 RCV000005132 RCV000005134 RCV000005137 RCV000005138 RCV000023464	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome	Pathogenic	rs387906321	RCV000005128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FOXL2-related disorder	Likely pathogenic; Pathogenic	rs672601359, rs28937884, rs1057516168	RCV003415986 RCV003894790 RCV003392224	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic non-acquired premature ovarian failure	Likely pathogenic; Pathogenic	rs2107743526, rs1373284153, rs2107743381, rs201840174	RCV001661755 RCV001661781 RCV001663371 RCV001657762	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 3	Likely pathogenic; Pathogenic	rs201840174, rs2107743381, rs672601359, rs104893741, rs797044528, rs104893738, rs387906322, rs764243782, rs1553752779, rs1553752894	RCV005409620 RCV002290263 RCV003398794 RCV004795376 RCV004795377 RCV002496265 RCV002490318 RCV000005144 RCV000596083 RCV000625747	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BLEPHAROPHIMOSIS EPICANTHUS INVERSUS PTOSIS SYNDROME PLUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS SYNDROME TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS SYNDROME TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME PLUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME WITHOUT PREMATURE OVARIAN FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BPES TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BPES WITH DUANE RETRACTION SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane retraction syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MALIGNANT GRANULOSA CELL TUMOR OF THE OVARY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	BEFREE	11175783		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21640373		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21478824		★☆☆☆☆ Found in Text Mining only
Adult Type Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	20098707, 21293260		★☆☆☆☆ Found in Text Mining only
Adult Type Ovarian Granulosa Cell Tumor	Ovarian Tumor	CGI_DG			★☆☆☆☆ Found in Text Mining only
Amblyopia	Amblyopia	Pubtator	22312189	Associate	★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	36793102	Associate	★☆☆☆☆ Found in Text Mining only
Anisometropia	Anisometropia	Pubtator	37932670	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29505555		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	BEFREE	10191085, 10720572, 10798354, 11175772, 11960581, 12567411, 14986827, 15081106, 15257268, 15450400, 15459170, 16131596, 16208278, 16283882, 16394030, 16481406, 16647286, 17277738, 19106105, 19371227, 19429596, 19592504, 19819892, 19929410, 19969293, 20184535, 21068205, 21204233, 21321671, 21325395, 21862621, 22544055, 22926839, 24030029, 24240106, 24458743, 24725350, 24817949, 25192944, 26134413, 26323275, 27252187, 27283035, 28677787, 28849110, 29339661, 30029625, 31048069, 8256811, 8800926, 9266197		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	LHGDN	11910558, 11960581, 12529855, 15962237, 16086270, 16283882, 17089161, 18642388		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis Ptosis and Epicanthus Inversus	Blepharophimosis-ptosis-epicanthus inversus syndrome	Pubtator	12529855, 15257268, 17277738, 17360647, 18642388, 19543368, 19969293, 20222838, 21321671, 21862621, 22312189, 23441113, 24817949, 25086333, 26323275, 27414805, 29339661, 29378385, 30029625, 31221094, 31366388, 31823134, 35574016, 36338666, 36793102, 37932670, 37938073, 40102860	Associate	★☆☆☆☆ Found in Text Mining only
Blepharophimosis Ptosis and Epicanthus Inversus	Blepharophimosis-ptosis-epicanthus inversus syndrome	Pubtator	23516377	Inhibit	★☆☆☆☆ Found in Text Mining only
Blepharophimosis syndrome type 1	Blepharophimosis, ptosis, and epicanthus inversus syndrome	CTD_human_DG	16219626, 20429427, 21889601		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis syndrome type 1	Blepharophimosis syndrome	Pubtator	19969293	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis syndrome type 1	Blepharophimosis, ptosis, and epicanthus inversus syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis syndrome type 2	Blepharophimosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	UNIPROT_DG	11175783, 11468277, 12400065, 12529855, 12630957, 12938087, 15257268, 16454982, 17089161, 18372316, 18484667, 18642388		★☆☆☆☆ Found in Text Mining only
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	BEFREE	11910558, 12529855, 12938087, 15300845, 15962237, 17089161, 18155828, 18372316, 18484667, 18642388, 18726931, 19010791, 19429596, 19543368, 19819892, 20184535, 20222838, 20232352, 21146150, 21325395, 22171663, 22248822, 22312189, 22926839, 23441113, 23513057, 24030029, 24240106, 24265544, 24565867, 25032695, 25086333, 26100530, 27604691, 30198434, 31048069, 31077882, 31366388, 31823134, 7795600		★☆☆☆☆ Found in Text Mining only
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GENOMICS_ENGLAND_DG	12529855, 19429596		★☆☆☆☆ Found in Text Mining only
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis, Ptosis, and Epicanthus Inversus Type II	Blepharophimosis, ptosis, and epicanthus inversus syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis-ptosis-epicanthus inversus syndrome plus	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	BEFREE	14986827, 15450400, 16131596, 16208278, 16394030, 17277738, 19106105, 19371227, 19929410, 21321671, 21862621, 24030029, 26323275, 27252187, 27283035, 31048069		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bpes With Duane Retraction Syndrome	Blepharophimosis, ptosis, and epicanthus inversus syndrome with Duane Retraction syndrome	CTD_human_DG	16283882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bpes With Ovarian Failure	Blepharophimosis, ptosis, and epicanthus inversus syndrome With Ovarian Failure	CTD_human_DG	16283882		★☆☆☆☆ Found in Text Mining only
Bpes Without Ovarian Failure	Blepharophimosis, ptosis, and epicanthus inversus syndrome Without Ovarian Failure	CTD_human_DG	16283882		★☆☆☆☆ Found in Text Mining only
Bpes, Type I, Autosomal Recessive	Blepharophimosis, ptosis, and epicanthus inversus syndrome	CTD_human_DG	16283882		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	34473308	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28377632	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	37932670	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	31366388	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24817949		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24817949		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17892325		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28377632		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17892325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	22200085		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	BEFREE	11960581, 12630957, 14986827, 15450400, 16208278, 16394030, 17277738, 19106105, 19371227, 21321671, 21862621, 24030029, 24725350, 25032695, 26323275, 27252187, 27283035, 28677787, 31048069		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	17050282		★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	BEFREE	16131596		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	11175772, 18726931, 20232352		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	39285472	Associate	★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	16283882		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Duane Retraction Syndrome	Duane Retraction Syndrome	LHGDN	16283882		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dysgerminoma	Dysgerminoma	BEFREE	21682576		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	31366388	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	29937308		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32555395	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	21293260, 24138090		★☆☆☆☆ Found in Text Mining only
Eyelid Diseases	Eyelid disease	Pubtator	12529855, 27414805, 34473308	Associate	★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	BEFREE	17430735		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	BEFREE	23774170, 25581731		★☆☆☆☆ Found in Text Mining only
Follicle stimulating hormone deficiency	Follicle Stimulating Hormone Deficiency	BEFREE	29800110		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28377632		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	34856571	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	BEFREE	18241061		★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	BEFREE	19513096, 21682576, 25860218		★☆☆☆☆ Found in Text Mining only
Granulosa Cell Cancer	Granulosa Cell Tumor	ORPHANET_DG	19516027		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	17430735, 19956657, 19996294, 20198651, 20693978, 21051974, 21119601, 21188138, 21293260, 21378549, 21623383, 21640373, 22200085, 22544055, 22742556, 23372819, 23523567, 23567549, 23774170, 23875665, 24134930, 24157616, 24240106, 24257635, 24342437, 24416423, 24689977, 25297715, 25581731, 25871347, 26598979, 26791928, 27431680, 27810330, 28276867, 28319575, 28347324, 28700438, 31745296		★☆☆☆☆ Found in Text Mining only
Gynandroblastoma	Gynandroblastoma	BEFREE	26428316, 29660837		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	29505555	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	17430735	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	20395670		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	36793102	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	19969293	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	29339661, 31823134	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21204216, 9266197		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	37875354	Associate	★☆☆☆☆ Found in Text Mining only
Maligant granulosa cell tumor of the ovary	Maligant Granulosa Cell Tumor Of The Ovary	Orphanet			★☆☆☆☆ Found in Text Mining only
Malignant Granulosa Cell Tumor	Maligant granulosa cell tumor of ovary	ORPHANET_DG	19516027		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28377632		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26791928		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28119367		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19956657, 20198651, 22200085, 24049064, 24342437, 24557434, 24817949, 27604691, 29950560		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24817949		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	9266197		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24725350, 8256811		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcystic stromal tumor	Microcystic Stromal Tumor	BEFREE	27830327		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	10798354		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	19513096	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	26200099		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37932670	Associate	★☆☆☆☆ Found in Text Mining only
Myopia Degenerative	Myopia	Pubtator	37932670	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17430735, 19956657, 20098707, 20198651, 20395670, 20693978, 21623383, 21640373, 21682576, 22200085, 22296244, 22797072, 23051594, 23699387, 23875665, 24257635, 24342437, 25297715, 25581731, 25871347, 26200099, 27585489, 27810330, 28319575, 28700438, 29275930, 30166312, 30304016, 30676431, 30950114, 30986800, 31464709, 31745296		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	BEFREE	16131596		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	34845303	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	11468277, 12149404, 12529855, 15081106, 15181179, 15300845, 15450400, 16131596, 16208278, 16481406, 16647286, 16719785, 17360647, 18028747, 18372316, 18689850, 18726931, 19010791, 19106105, 19429596, 19515849, 19819892, 19969293, 20222838, 21068205, 21119601, 21505076, 21862621, 24030029, 24817949, 25032695, 25988799, 26100530, 26134413, 26323275, 27252187, 27283035, 28677787, 28924383, 29339661, 29378385, 29471425, 29916099, 31366388		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	LHGDN	12149404, 12161610, 15181179, 15300845, 18028747		★☆☆☆☆ Found in Text Mining only
Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	20098707, 20198651, 21293260, 24689977		★☆☆☆☆ Found in Text Mining only
Ovarian Granulosa Cell Tumor	Ovarian Tumor	CGI_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24689977		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17430735, 19956657, 19969293, 20098707, 24416423, 24817949, 25884336, 26428316, 26893359, 29882921, 30066910, 30166312, 30304016, 31464709, 34238613, 36793102, 36881092	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Thecoma	Ovarian Thecoma	BEFREE	20198651		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	21478824	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	37938073	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	11468277, 12149404, 12529855, 15081106, 15181179, 15300845, 15450400, 16131596, 16208278, 16481406, 16647286, 16719785, 17360647, 18028747, 18372316, 18689850, 18726931, 19010791, 19106105, 19429596, 19515849, 19819892, 19969293, 20222838, 21068205, 21119601, 21862621, 24030029, 24817949, 25032695, 25988799, 26100530, 26134413, 26323275, 27252187, 27283035, 28677787, 28924383, 29339661, 29378385, 29471425, 31366388		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 3 (disorder)	Premature Ovarian Failure	UNIPROT_DG	12149404, 19429596		★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 3 (disorder)	Premature Ovarian Failure	GENOMICS_ENGLAND_DG	19429596		★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 3 (disorder)	Premature Ovarian Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 3 (disorder)	Premature Ovarian Failure	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	19969293		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	BEFREE	15459170		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	14986827, 15450400, 16131596, 16208278, 16394030, 17277738, 19106105, 19371227, 19929410, 21321671, 21862621, 24030029, 26323275, 27252187, 27283035, 31048069		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	31745296		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22779686		★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sertoli-Leydig Cell Tumor	Sertoli-Leydig Cell Tumor	BEFREE	21378549, 24134930, 24157616, 26598979, 29660837, 30986800		★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	21293260, 21378549, 24134930, 24157616, 24257635, 28700438, 31162286		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	11175783, 27801941		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	29471425	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	27504996		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28377632		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28119367		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29060929	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	22171663, 31048069		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24817949	Associate	★☆☆☆☆ Found in Text Mining only
XX males	XX Males	BEFREE	15300845		★☆☆☆☆ Found in Text Mining only