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: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.900 strong 1.000 34 1 2005 2019
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.720 None 1.000 2 2003 2012
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 10 0.700 limited 1.000 10 2003 2020
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 80 8 0.400 None 1.000 14 2005 2020
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 26 4 0.200 None 1.000 10 2007 2020
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 79 5 0.180 None 1.000 8 2005 2019
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 97 19 0.120 None 1.000 2 2008 2019
CUI: C0013592
Disease: Ectropion
Ectropion 		disease Eye Diseases Disease or Syndrome 6 1 0.110 None 1.000 1 2016 2016
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 544 18 0.030 None 1.000 3 2005 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1998 271 0.020 None 1.000 2 2008 2013
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1995 266 0.020 None 1.000 2 2008 2013
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 338 243 0.010 None 1.000 1 2005 2005
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355 0.010 None 1.000 1 2020 2020
CUI: C0473583
Disease: Nevus elasticus
Nevus elasticus 		disease Neoplasms Neoplastic Process 37 5 0.010 None 1.000 1 2005 2005
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1214 109 0.010 None 1.000 1 2016 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73 0.010 None 1.000 1 2014 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2006 2006
CUI: C0423773
Disease: Scaly skin
Scaly skin 		phenotype Sign or Symptom 4 4 0.010 None 1.000 1 2014 2014
CUI: C0339295
Disease: Exposure keratoconjunctivitis
Exposure keratoconjunctivitis 		disease Eye Diseases; Nervous System Diseases; Wounds and Injuries Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2014 2014
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2021 320 0.010 None 1.000 1 2020 2020
CUI: C0265987
Disease: Nevus comedonicus
Nevus comedonicus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 4 0.010 None 1.000 1 2018 2018
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 21 4 0.010 None 1.000 1 2018 2018
CUI: C0155196
Disease: Cicatricial ectropion
Cicatricial ectropion 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 599 54 0.010 None 1.000 1 2006 2006