Source: BEFREE ×
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: C4284040
Disease: FIGO Stage III Ovarian Cancer
FIGO Stage III Ovarian Cancer 		disease Neoplastic Process 3 0.010 None 1.000 1 1999 1999
CUI: C0563211
Disease: Carcinoma of anal canal
Carcinoma of anal canal 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.020 None 1.000 2 1999 2000
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 4 0.010 None 1.000 1 2009 2009
CUI: C0598790
Disease: lung sarcoma
lung sarcoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.010 None 1.000 1 1993 1993
CUI: C0206720
Disease: Squamous Cell Neoplasms
Squamous Cell Neoplasms 		group Neoplasms Neoplastic Process 8 0.010 None < 0.001 1 1993 1993
CUI: C0684516
Disease: Benign bone neoplasm
Benign bone neoplasm 		group Neoplasms; Musculoskeletal Diseases Neoplastic Process 8 0.010 None 1.000 1 1995 1995
CUI: C0851135
Disease: In situ cancer
In situ cancer 		phenotype Neoplastic Process 8 0.010 None 1.000 1 1999 1999
CUI: C1334407
Disease: Localized Carcinoma
Localized Carcinoma 		disease Neoplasms Neoplastic Process 8 1 0.010 None 1.000 1 1996 1996
CUI: C0278687
Disease: Ovarian cancer stage III
Ovarian cancer stage III 		disease Neoplastic Process 9 0.010 None 1.000 1 1999 1999
CUI: C0012243
Disease: Digestive System Neoplasms
Digestive System Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 10 2 0.020 None 1.000 1 2008 2016
CUI: C0684830
Disease: Secondary malignant neoplasm of axilla
Secondary malignant neoplasm of axilla 		disease Neoplastic Process 10 0.010 None 1.000 1 2001 2001
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		disease Disease or Syndrome 12 1 0.010 None 1.000 1 2017 2017
CUI: C0279681
Disease: Bladder Squamous Cell Carcinoma
Bladder Squamous Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 13 0.010 None 1.000 1 2007 2007
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 14 7 0.010 None 1.000 1 2013 2013
CUI: C0346993
Disease: Secondary malignant neoplasm of female breast
Secondary malignant neoplasm of female breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 14 1 0.010 None 1.000 1 2004 2004
CUI: C1266089
Disease: Metaplastic carcinoma
Metaplastic carcinoma 		disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 1997 1997
CUI: C1096666
Disease: Thyroid cancer metastatic
Thyroid cancer metastatic 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 15 0.010 None < 0.001 1 1994 1994
CUI: C2960725
Disease: Invasive pituitary adenoma
Invasive pituitary adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 15 0.010 None 1.000 1 2020 2020
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 16 3 0.010 None 1.000 1 2017 2017
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 16 1 0.010 None 1.000 1 2019 2019
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		group Neoplasms; Eye Diseases Neoplastic Process 17 0.010 None 1.000 1 1997 1997
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 17 11 0.010 None 1.000 1 2013 2013
CUI: C0280252
Disease: stage, colon cancer
stage, colon cancer 		phenotype Digestive System Diseases; Neoplasms Neoplastic Process 18 2 0.010 None 1.000 1 2018 2018
CUI: C0241880
Disease: Endometriosis of pelvis
Endometriosis of pelvis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 20 0.010 None 1.000 1 1998 1998
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 6 0.010 None 1.000 1 2014 2014