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: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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 9 92 1.000 None 1.000 48 91 1995 2020
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: 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: C1370419
Disease: Ovarian Granulosa Cell Tumor
Ovarian Granulosa Cell Tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 23 3 0.340 None 0.750 4 1 2010 2014
CUI: C1332218
Disease: Adult Type Ovarian Granulosa Cell Tumor
Adult Type Ovarian Granulosa Cell Tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 10 1 0.320 None 1.000 2 1 2010 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.310 None 1.000 2 2007 2017
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: 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: C0022548
Disease: Keloid
Keloid 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.300 None 1.000 1 2010 2010
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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2007 2007
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: 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: 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: 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: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.200 None 0.982 57 1993 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.200 None 0.976 42 2 2001 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.200 None 1.000 16 2003 2019
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.200 None 1.000 16 2003 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.100 None 0.978 45 2 2001 2019
CUI: C0018206
Disease: granulosa cell tumor
granulosa cell tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 88 5 0.100 None 0.974 39 1 2007 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.939 33 1 2007 2020
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 323 13 0.100 None 1.000 23 1 2009 2020
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 1.000 19 2001 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.100 None 1.000 11 2003 2019