FOXL2, forkhead box L2, 668

N. diseases: 137; N. variants: 102
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1862261
Disease: BPES type II
BPES type II 		disease Disease or Syndrome 1 0.090 None 1.000 9 2003 2014
CUI: C1879643
Disease: Adult Type Granulosa Cell Tumor
Adult Type Granulosa Cell Tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1 2 0.070 None 1.000 7 1 2010 2017
CUI: C2931135
Disease: Blepharophimosis syndrome type 1
Blepharophimosis syndrome type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 10 0.400 None 1.000 3 10 2005 2011
CUI: C1837008
Disease: PREMATURE OVARIAN FAILURE 3 (disorder)
PREMATURE OVARIAN FAILURE 3 (disorder) 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 1 4 0.700 strong 1.000 2 4 2002 2009
CUI: C0266572
Disease: Congenital anomaly of eyelid
Congenital anomaly of eyelid 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 1 0.010 None 1.000 1 1995 1995
CUI: C1862262
Disease: Bpes With Ovarian Failure
Bpes With Ovarian Failure 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2005 2005
CUI: C1862263
Disease: Bpes Without Ovarian Failure
Bpes Without Ovarian Failure 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2005 2005
CUI: C1862264
Disease: Bpes With Duane Retraction Syndrome
Bpes With Duane Retraction Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2005 2005
CUI: C1970106
Disease: Bpes, Type I, Autosomal Recessive
Bpes, Type I, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2005 2005
CUI: C1854128
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II WITH DUANE RETRACTION SYNDROME
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II WITH DUANE RETRACTION SYNDROME 		disease Finding 1 1 0.100 None 0 1
CUI: C2931136
Disease: Blepharophimosis syndrome type 2
Blepharophimosis syndrome type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 7 0.100 None 0 7
CUI: C3714208
Disease: Blepharophimosis, Ptosis, and Epicanthus Inversus Type II
Blepharophimosis, Ptosis, and Epicanthus Inversus Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4025829
Disease: Abnormality of the breast
Abnormality of the breast 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1862260
Disease: BPES type I
BPES type I 		disease Disease or Syndrome 2 1 0.070 None 1.000 7 1 2003 2014
CUI: C0018413
Disease: Gynandroblastoma
Gynandroblastoma 		disease Neoplasms Neoplastic Process 3 1 0.020 None 1.000 2 1 2015 2018
CUI: C0334401
Disease: Malignant Granulosa Cell Tumor
Malignant Granulosa Cell Tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 3 0.300 None 1.000 1 2009 2009
CUI: C1096543
Disease: Superficial punctate keratopathy
Superficial punctate keratopathy 		disease Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1266118
Disease: Cellular fibroma
Cellular fibroma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2013 2013
CUI: C1882229
Disease: Ovarian Thecoma
Ovarian Thecoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2010 2010
CUI: C0346304
Disease: Gonadotroph adenoma
Gonadotroph adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 5 0.010 None 1.000 1 2012 2012
CUI: C1567257
Disease: Granulosa Cell Cancer
Granulosa Cell Cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 5 0.300 None 1.000 1 2009 2009
CUI: C2239120
Disease: eyelids (symptom)
eyelids (symptom) 		phenotype Sign or Symptom 6 1 0.030 None 1.000 3 1 1999 2011
CUI: C1318541
Disease: Sertoli-Leydig cell tumor of intermediate differentiation
Sertoli-Leydig cell tumor of intermediate differentiation 		disease Neoplasms Neoplastic Process 6 0.020 None 1.000 2 2013 2018
CUI: C3839747
Disease: Uterine tumor resembling ovarian sex cord tumor
Uterine tumor resembling ovarian sex cord tumor 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2016 2016
CUI: C0334403
Disease: Juvenile granulosa cell tumor
Juvenile granulosa cell tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 7 0.020 None 1.000 2 2018 2019