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: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G 		disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C2930835
Disease: Optic Disc Edema
Optic Disc Edema 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0553573
Disease: Primary infertility
Primary infertility 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 1 2015 2015
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		disease Disease or Syndrome 10 8 0.010 None 1.000 1 2016 2016
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 1999 1999
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 16 1 0.120 None 1.000 2 1999 2007
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 16 8 0.010 None 1.000 1 1 2015 2015
CUI: C0376286
Disease: Avitaminosis
Avitaminosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 1 2008 2008
CUI: C1510471
Disease: Vitamin Deficiency
Vitamin Deficiency 		group Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 1 2008 2008
CUI: C0030353
Disease: Papilledema
Papilledema 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 6 0.010 None 1.000 1 2003 2003
CUI: C3164407
Disease: Oligoasthenozoospermia
Oligoasthenozoospermia 		disease Disease or Syndrome 25 6 0.010 None 1.000 1 1 2017 2017
CUI: C3714731
Disease: Early childhood caries
Early childhood caries 		disease Stomatognathic Diseases Disease or Syndrome 30 8 0.010 None 1.000 1 1 2017 2017
CUI: C0002902
Disease: Anencephaly
Anencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 10 0.010 None 1.000 1 1 2015 2015
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 32 13 0.010 None 1.000 1 1 2013 2013
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 36 12 0.460 None 1.000 6 1998 2015
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 6 0.010 None 1.000 1 1 2005 2005
CUI: C0848332
Disease: Spots on skin
Spots on skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 43 0.010 None 1.000 1 2004 2004
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		disease Congenital Abnormality 48 38 0.010 None 1.000 1 1 2018 2018
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 51 15 0.010 None 1.000 1 2011 2011
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 68 8 0.020 None 0.500 2 1 2015 2015
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		disease Otorhinolaryngologic Diseases Disease or Syndrome 68 36 0.010 None 1.000 1 1 2013 2013
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 94 0.010 None 1.000 1 2004 2004
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 72 38 0.010 None 1.000 1 1 2013 2013
CUI: C0038362
Disease: Stomatitis
Stomatitis 		disease Stomatognathic Diseases Disease or Syndrome 82 22 0.010 None 1.000 1 1 2016 2016